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	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
ARHGEF16	27237	broad.mit.edu	37	1	3394482	3394482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:3394482G>C	uc001akg.3	+	11	1765	c.1517G>C	c.(1516-1518)GGA>GCA	p.G506A	ARHGEF16_uc001aki.2_Missense_Mutation_p.G218A|ARHGEF16_uc001akj.2_Missense_Mutation_p.G218A|ARHGEF16_uc010nzh.1_Missense_Mutation_p.G210A	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	506	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGCGCGGAGAGCTGTTC	0.592		NaN											0	0	0	1	0	25	46				
ERRFI1	54206	broad.mit.edu	37	1	8073944	8073944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8073944G>C	uc001aoz.2	-	4	964	c.715C>G	c.(715-717)CCA>GCA	p.P239A	ERRFI1_uc001apa.1_Missense_Mutation_p.P164A	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	239					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			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;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)		GTCTGAGGTGGAGGAGGATTT	0.468		NaN											0	0	0	1	0	6	44				
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:8617577C>G	uc001ape.2	-	6	1338	c.528G>C	c.(526-528)AAG>AAC	p.K176N	RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	176	BAH.				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			ovary(1)|central_nervous_system(1)	2	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)		GATGGTCCCTCTTACTCTGAA	0.438		NaN											0	0	0	1	0	23	59				
CTNNBIP1	56998	broad.mit.edu	37	1	9931317	9931317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:9931317C>G	uc001aqk.1	-	5	422	c.115G>C	c.(115-117)GAG>CAG	p.E39Q	CTNNBIP1_uc001aql.1_Missense_Mutation_p.E39Q	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	39					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding				0		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGCAGGAACTCCTCCTCGCTG	0.652		NaN											0	0	0	1	0	2	2				
C1orf127	148345	broad.mit.edu	37	1	11008292	11008292	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11008292T>C	uc010oao.1	-	8	1458	c.1453A>G	c.(1453-1455)AGG>GGG	p.R485G	C1orf127_uc001arr.1_Missense_Mutation_p.R467G|C1orf127_uc001ars.1_Missense_Mutation_p.R459G	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	485										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCCCCCTCCCTGGGGAGACCA	0.637		NaN											0	0	0	1	0	21	76				
TARDBP	23435	broad.mit.edu	37	1	11082329	11082329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082329G>A	uc001art.2	+	6	997	c.863G>A	c.(862-864)GGA>GAA	p.G288E	TARDBP_uc010oap.1_Missense_Mutation_p.G172E	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	288	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AATCAGGGTGGATTTGGTAAT	0.453		NaN											0	0	0	1	0	14	73				
TARDBP	23435	broad.mit.edu	37	1	11082344	11082344	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11082344G>C	uc001art.2	+	6	1012	c.878G>C	c.(877-879)AGA>ACA	p.R293T	TARDBP_uc010oap.1_Missense_Mutation_p.R177T	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	293	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGTAATAGCAGAGGGGGTGGA	0.483		NaN											0	0	0	1	0	11	71				
CLCN6	1185	broad.mit.edu	37	1	11900229	11900229	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:11900229C>T	uc001ate.3	+	23	2672	c.2559C>T	c.(2557-2559)CTC>CTT	p.L853L	CLCN6_uc010oat.1_Silent_p.L569L|CLCN6_uc010oau.1_Silent_p.L831L|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	853	CBS 2.|Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	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)		GGCACAACCTCACCTATGAAT	0.587		NaN											0	0	0	1	0	39	88				
VPS13D	55187	broad.mit.edu	37	1	12446370	12446370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12446370G>A	uc001atv.2	+	60	11752	c.11611G>A	c.(11611-11613)GAA>AAA	p.E3871K	VPS13D_uc001atw.2_Missense_Mutation_p.E3846K|VPS13D_uc001atx.2_Missense_Mutation_p.E3058K|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3870					protein localization					ovary(4)|pancreas(1)	5	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)		TCACATGCTTGAACTCAGCAT	0.428		NaN											0	0	0	1	0	46	93				
PRAMEF12	390999	broad.mit.edu	37	1	12836179	12836179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12836179C>T	uc001aui.2	+	2	808	c.781C>T	c.(781-783)CAG>TAG	p.Q261*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	261										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCACCTCTCAGTTCCTCAA	0.507		NaN											0	0	0	1	0	51	127				
PRAMEF11	440560	broad.mit.edu	37	1	12885303	12885303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:12885303C>T	uc001auk.2	-	4	1004	c.808G>A	c.(808-810)GAC>AAC	p.D270N		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	PRAME family member 11	270	LRR 3.										0						TGCTTCAAGTCTGATTCCAAA	0.468		NaN											0	0	0	1	0	114	300				
EPHA2	1969	broad.mit.edu	37	1	16459790	16459790	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16459790C>G	uc001aya.1	-	11	2075	c.1938G>C	c.(1936-1938)AAG>AAC	p.K646N		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	646	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).	ATP (By similarity).			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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	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;0.0181)|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)	CTTTCAGCGTCTTGATGGCCA	0.607		NaN											0	0	0	1	0	9	84				
FBXO42	54455	broad.mit.edu	37	1	16641900	16641900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:16641900G>A	uc001ayg.2	-	2	230	c.14C>T	c.(13-15)TCA>TTA	p.S5L	FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S5L	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	F-box protein 42	5										upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTCACTGTCCGAGGAGCTGGC	0.458		NaN											0	0	0	1	0	8	55				
KLHDC7A	127707	broad.mit.edu	37	1	18808297	18808297	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:18808297C>T	uc001bax.2	+	1	874	c.822C>T	c.(820-822)TTC>TTT	p.F274F	KLHDC7A_uc009vpg.2_Silent_p.F56F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	274						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		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)		AGGAGCATTTCATACAGAAGG	0.592		NaN											0	0	0	1	0	21	133				
SH2D5	400745	broad.mit.edu	37	1	21048338	21048338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:21048338G>A	uc001bdt.1	-	9	1592	c.967C>T	c.(967-969)CTC>TTC	p.L323F	SH2D5_uc009vpy.1_Missense_Mutation_p.L407F|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	323											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGGCCGGAGAGTCCGGGGC	0.701		NaN											0	0	0	1	0	5	22				
HSPG2	3339	broad.mit.edu	37	1	22157765	22157765	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22157765G>A	uc001bfj.2	-	84	11545	c.11505C>T	c.(11503-11505)CTC>CTT	p.L3835L	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.L3836L	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3835	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		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)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGTGAGGTTGAGGTCATGGA	0.687		NaN											0	0	0	1	0	11	73				
CELA3A	10136	broad.mit.edu	37	1	22333440	22333440	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:22333440C>A	uc001bfl.2	+	5	451	c.432C>A	c.(430-432)CTC>CTA	p.L144L		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	144	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						TCGCCTCACTCCCTCCCGCTG	0.617		NaN											1	0	0.00185496	1	0.00189251	14	95				
LUZP1	7798	broad.mit.edu	37	1	23418777	23418777	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:23418777C>T	uc001bgk.2	-	4	2362	c.1978G>A	c.(1978-1980)GAT>AAT	p.D660N	LUZP1_uc010odv.1_Missense_Mutation_p.D660N|LUZP1_uc001bgl.2_Missense_Mutation_p.D660N|LUZP1_uc001bgm.1_Missense_Mutation_p.D660N	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	660						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AAGTCATCATCTGAGTCTGGC	0.478		NaN											0	0	0	1	0	79	157				
CNR2	1269	broad.mit.edu	37	1	24201129	24201129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:24201129C>A	uc001bif.2	-	2	1106	c.979G>T	c.(979-981)GAG>TAG	p.E327*		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	327	Cytoplasmic (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		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)	Nabilone(DB00486)	TCTTTTGCCTCTGACCCAAGG	0.552		NaN											1	0	0.000308642	1	0.0003185	9	105				
RHCE	6006	broad.mit.edu	37	1	25717274	25717274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25717274G>A	uc001bkf.2	-	5	853	c.767C>T	c.(766-768)TCA>TTA	p.S256L	RHCE_uc001bkg.2_Missense_Mutation_p.S256L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.S240L	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	256	Helical; (Potential).					integral to plasma membrane					0		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGGATGACCCTGAGAT	0.527		NaN											0	0	0	1	0	21	141				
MAN1C1	57134	broad.mit.edu	37	1	25944772	25944772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:25944772G>A	uc001bkm.2	+	1	814	c.484G>A	c.(484-486)GAT>AAT	p.D162N	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	162	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		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)		AACGAGGGCCGATGAGAGTCA	0.652		NaN											0	0	0	1	0	5	15				
CNKSR1	10256	broad.mit.edu	37	1	26507029	26507029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26507029C>T	uc001bln.3	+	2	196	c.138C>T	c.(136-138)CTC>CTT	p.L46L	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.L46L|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	46	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAAGCCTCGAGGCTCTGG	0.622		NaN											0	0	0	1	0	28	66				
AIM1L	55057	broad.mit.edu	37	1	26650797	26650797	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:26650797C>A	uc001bmd.3	-	17	1878	c.1448G>T	c.(1447-1449)CGG>CTG	p.R483L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	483							sugar binding			pancreas(1)	1		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)		GAAATAAACCCGGCGCTGGTG	0.637		NaN											1	0	0.00909568	1	0.00919788	4	25				
PTAFR	5724	broad.mit.edu	37	1	28477356	28477356	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:28477356G>A	uc001bpl.2	-	2	304	c.177C>T	c.(175-177)CTC>CTT	p.L59L	PTAFR_uc001bpm.3_Silent_p.L59L|PTAFR_uc009vte.2_Silent_p.L59L	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	59	Helical; Name=2; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCATGGTGAGGTTCACCA	0.498		NaN											0	0	0	1	0	5	59				
MECR	51102	broad.mit.edu	37	1	29528545	29528545	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:29528545C>A	uc001brq.1	-	6	702	c.666G>T	c.(664-666)CAG>CAT	p.Q222H	MECR_uc001brp.1_Missense_Mutation_p.Q146H|MECR_uc001brr.1_Missense_Mutation_p.Q146H|MECR_uc001brs.1_RNA|MECR_uc001brt.1_Missense_Mutation_p.Q146H|MECR_uc010ofz.1_Missense_Mutation_p.Q222H	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	222					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		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)		CACTCAGCTTCTGGATATCAG	0.512		NaN											1	0	3.66258e-25	1	4.23381e-25	78	217				
TXLNA	200081	broad.mit.edu	37	1	32660659	32660659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:32660659G>A	uc001bui.2	+	11	1569	c.1504G>A	c.(1504-1506)GAG>AAG	p.E502K	TXLNA_uc001buj.2_Missense_Mutation_p.E502K	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	502					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGTGGCCCTGAGAGGAGGCC	0.642		NaN											0	0	0	1	0	23	26				
YARS	8565	broad.mit.edu	37	1	33245727	33245727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:33245727C>A	uc001bvy.1	-	11	2081	c.1293G>T	c.(1291-1293)ATG>ATT	p.M431I	YARS_uc001bvw.1_Missense_Mutation_p.M91I|YARS_uc001bvx.1_Missense_Mutation_p.M82I	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	431	tRNA-binding.				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			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CGACTCCTCTCATCTTCTGGG	0.577		NaN											1	0	0.00152264	1	0.00155472	22	140				
CSMD2	114784	broad.mit.edu	37	1	34034982	34034982	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:34034982C>G	uc001bxn.1	-	53	8158	c.8129G>C	c.(8128-8130)CGC>CCC	p.R2710P	CSMD2_uc001bxm.1_Missense_Mutation_p.R2708P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2710	Sushi 17.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCAAGGCAGCGGACTTCAGA	0.522		NaN											0	0	0	1	0	11	44				
ZMYM1	79830	broad.mit.edu	37	1	35579630	35579630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:35579630C>G	uc001bym.2	+	11	2347	c.2199C>G	c.(2197-2199)TTC>TTG	p.F733L	ZMYM1_uc001byn.2_Missense_Mutation_p.F733L|ZMYM1_uc010ohu.1_Missense_Mutation_p.F714L|ZMYM1_uc001byo.2_Missense_Mutation_p.F373L|ZMYM1_uc009vut.2_Missense_Mutation_p.F658L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	733						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAGAATTCAAGAAAGAAG	0.318		NaN											0	0	0	1	0	15	51				
TEKT2	27285	broad.mit.edu	37	1	36550615	36550615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36550615G>C	uc001bzr.2	+	2	220	c.93G>C	c.(91-93)CAG>CAC	p.Q31H	TEKT2_uc001bzs.2_5'UTR	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	tektin 2	31					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCAGCTGCAGCGAGATGCTT	0.617		NaN											0	0	0	1	0	9	64				
THRAP3	9967	broad.mit.edu	37	1	36766618	36766618	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36766618C>G	uc001cae.3	+	10	2659	c.2435C>G	c.(2434-2436)TCA>TGA	p.S812*	THRAP3_uc001caf.3_Nonsense_Mutation_p.S812*	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	812					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTGACAAATCAAGACTGGGG	0.517		NaN	T	USP6	aneurysmal bone cysts								0	0	0	1	0	5	46				
CSF3R	1441	broad.mit.edu	37	1	36933439	36933439	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:36933439C>T	uc001caw.1	-	14	2026	c.1848G>A	c.(1846-1848)CTG>CTA	p.L616L	CSF3R_uc001cat.1_Silent_p.L179L|CSF3R_uc009vvc.1_Silent_p.L145L|CSF3R_uc001cau.1_Silent_p.L16L|CSF3R_uc001cav.1_Silent_p.L616L|CSF3R_uc001cax.1_Silent_p.L616L|CSF3R_uc001cay.1_Silent_p.L616L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	616	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCAAGGTCATCAGGGTGAGGA	0.602		NaN											0	0	0	1	0	20	81				
GNL2	29889	broad.mit.edu	37	1	38040350	38040350	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040350G>T	uc001cbk.2	-	11	1381	c.1218C>A	c.(1216-1218)ATC>ATA	p.I406I		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	406					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				ATGTTTTGCTGATATATTCTG	0.413		NaN											1	0	0.000673444	1	0.000690993	9	46				
GNL2	29889	broad.mit.edu	37	1	38040358	38040358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:38040358C>A	uc001cbk.2	-	11	1373	c.1210G>T	c.(1210-1212)GAA>TAA	p.E404*		NM_013285	NP_037417	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2	404					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(586;0.0393)				CTGATATATTCTGGCTTTGCT	0.403		NaN											1	0	1.58986e-06	1	1.6848e-06	9	51				
RHBDL2	54933	broad.mit.edu	37	1	39384788	39384788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39384788C>T	uc001ccu.1	-	2	325	c.97G>A	c.(97-99)GAT>AAT	p.D33N	RHBDL2_uc010oin.1_Missense_Mutation_p.D33N|RHBDL2_uc010oio.1_Missense_Mutation_p.D113N|RHBDL2_uc001ccv.2_Missense_Mutation_p.D33N	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	33					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCTCCCCCATCCTCTCTCATT	0.483		NaN											0	0	0	1	0	26	109				
KIAA0754	643314	broad.mit.edu	37	1	39876688	39876688	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:39876688G>A	uc009vvt.1	+	1	1513	c.751G>A	c.(751-753)GAA>AAA	p.E251K	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	115											0	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)			TGTAATGCAGGAATCCAGATT	0.502		NaN									OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	37				
HPCAL4	51440	broad.mit.edu	37	1	40149690	40149690	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40149690C>T	uc001cdr.2	-	3	417	c.297G>A	c.(295-297)CAG>CAA	p.Q99Q	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	99	EF-hand 3.				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	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)			AGTTGAGCTTCTGCTCGAAGC	0.657		NaN											0	0	0	1	0	13	47				
TRIT1	54802	broad.mit.edu	37	1	40323037	40323037	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:40323037C>G	uc010oiz.1	-	2	241	c.227G>C	c.(226-228)AGA>ACA	p.R76T	TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	76					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	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)			CCGGCAGATTCTCTGCTCTTG	0.448		NaN											0	0	0	1	0	6	28				
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:42922574C>T	uc001chl.2	+	1	402	c.338C>T	c.(337-339)TCG>TTG	p.S113L	ZMYND12_uc001chj.2_5'Flank|ZMYND12_uc010ojt.1_5'Flank|PPCS_uc001chk.2_Intron	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase isoform	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647		NaN											0	0	0	1	0	20	87				
KIAA0467	23334	broad.mit.edu	37	1	43908528	43908528	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:43908528G>C	uc001cjk.1	+	44	5955	c.5493G>C	c.(5491-5493)GAG>GAC	p.E1831D		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2730						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGAAGTGGAGACCCTCATCC	0.612		NaN											0	0	0	1	0	25	112				
TMEM53	79639	broad.mit.edu	37	1	45140082	45140082	+	Translation_Start_Site	SNP	G	G	T	rs114472931	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:45140082G>T	uc001cmc.2	-	1	18	c.-18C>A	c.(-20--16)CTCTG>CTATG		TMEM53_uc001cmb.1_Translation_Start_Site|TMEM53_uc001cmd.2_Translation_Start_Site|TMEM53_uc009vxh.1_5'Flank|C1orf228_uc001cmf.2_5'Flank	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53							integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					CGCCGGCCCAGAGCACGGGTC	0.682		NaN											1	0	0.00909568	1	0.00919788	4	20				
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46159475G>T	uc001cor.1	+	3	838	c.642G>T	c.(640-642)CTG>CTT	p.L214L		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368		NaN											1	0	3.51602e-12	1	3.95199e-12	20	71				
C1orf190	541468	broad.mit.edu	37	1	46669164	46669164	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46669164G>C	uc010oma.1	+	1	159	c.66G>C	c.(64-66)AAG>AAC	p.K22N	POMGNT1_uc001cpg.2_Intron|POMGNT1_uc001cpf.2_Intron	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	22					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					TGGGCAGGAAGACCCCTGAAG	0.692		NaN											0	0	0	1	0	7	46				
LRRC41	10489	broad.mit.edu	37	1	46768814	46768814	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:46768814G>A	uc001cpn.2	-	1	225	c.181C>T	c.(181-183)CTG>TTG	p.L61L	LRRC41_uc010omb.1_Silent_p.L61L|LRRC41_uc001cpo.1_Silent_p.L61L|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	61										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCGCTCTCCAGAACCCCCATA	0.567		NaN											0	0	0	1	0	3	3				
CYP4B1	1580	broad.mit.edu	37	1	47284418	47284418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:47284418C>T	uc001cqm.3	+	12	1552	c.1468C>T	c.(1468-1470)CTT>TTT	p.L490F	CYP4B1_uc001cqn.3_Missense_Mutation_p.L491F|CYP4B1_uc009vym.2_Missense_Mutation_p.L476F|CYP4B1_uc010omk.1_Missense_Mutation_p.L327F	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	490					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					GATGCCCCAGCTTGTCCTGCG	0.577		NaN											0	0	0	1	0	27	96				
EPS15	2060	broad.mit.edu	37	1	51934202	51934202	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:51934202C>T	uc001csq.1	-	5	344	c.252G>A	c.(250-252)CAG>CAA	p.Q84Q	EPS15_uc009vyz.1_Silent_p.Q84Q	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	84	EH 1.				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			lung(1)|kidney(1)	2						CCAATCCATTCTGGGCACATG	0.358		NaN	T	MLL	ALL								0	0	0	1	0	9	53				
ZCCHC11	23318	broad.mit.edu	37	1	52940569	52940569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940569C>A	uc001ctx.2	-	13	2896	c.2662G>T	c.(2662-2664)GAT>TAT	p.D888Y	ZCCHC11_uc001cty.2_Missense_Mutation_p.D888Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D888Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.D888Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.D647Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.D888Y	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	888					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AGGTTATCATCATCATTAAGG	0.378		NaN											1	0	1.7881e-09	1	1.96769e-09	29	45				
ZCCHC11	23318	broad.mit.edu	37	1	52940929	52940929	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52940929C>T	uc001ctx.2	-	13	2536	c.2302G>A	c.(2302-2304)GAA>AAA	p.E768K	ZCCHC11_uc001cty.2_Missense_Mutation_p.E768K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E768K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E768K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E527K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E768K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	768					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAGTCCATTTCATCACATTGA	0.388		NaN											0	0	0	1	0	45	102				
ZCCHC11	23318	broad.mit.edu	37	1	52941053	52941053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941053C>G	uc001ctx.2	-	13	2412	c.2178G>C	c.(2176-2178)GAG>GAC	p.E726D	ZCCHC11_uc001cty.2_Missense_Mutation_p.E726D|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E726D|ZCCHC11_uc009vze.1_Missense_Mutation_p.E726D|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E485D|ZCCHC11_uc001cub.2_Missense_Mutation_p.E726D	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	726					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TTTTCCCCTTCTCTCTTTTCT	0.398		NaN											0	0	0	1	0	40	116				
ZCCHC11	23318	broad.mit.edu	37	1	52941062	52941062	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:52941062C>T	uc001ctx.2	-	13	2403	c.2169G>A	c.(2167-2169)AAG>AAA	p.K723K	ZCCHC11_uc001cty.2_Silent_p.K723K|ZCCHC11_uc001ctz.2_Silent_p.K723K|ZCCHC11_uc009vze.1_Silent_p.K723K|ZCCHC11_uc009vzf.1_Silent_p.K482K|ZCCHC11_uc001cub.2_Silent_p.K723K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	723					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						TCTCTCTTTTCTTGAAATCCA	0.403		NaN											0	0	0	1	0	39	110				
YIPF1	54432	broad.mit.edu	37	1	54348950	54348950	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54348950C>T	uc001cvu.2	-	4	369	c.32_splice	c.e4-1	p.E11_splice	YIPF1_uc001cvv.2_Splice_Site|YIPF1_uc001cvw.2_Intron|YIPF1_uc001cvx.2_Splice_Site|YIPF1_uc001cvy.2_Splice_Site	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1							integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						TTGCCAAATTCTGAAATCAAT	0.453		NaN											0	0	0	1	0	7	34				
DIO1	1733	broad.mit.edu	37	1	54359913	54359913	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:54359913G>A	uc010onx.1	+	1	53	c.30G>A	c.(28-30)CTG>CTA	p.L10L	DIO1_uc010onw.1_Silent_p.L10L|DIO1_uc009vzl.2_Silent_p.L10L|DIO1_uc001cwb.2_Silent_p.L10L|DIO1_uc010ony.1_Silent_p.L10L|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	NM_000792	NP_000783	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I isoform a	10					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity				0						GGCTGTGGCTGAAGAGGCTCT	0.587		NaN											0	0	0	1	0	12	48				
TTC22	55001	broad.mit.edu	37	1	55266753	55266753	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:55266753C>T	uc009vzt.1	-	1	189	c.84G>A	c.(82-84)GAG>GAA	p.E28E	TTC22_uc001cxz.3_Silent_p.E28E	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	28							binding				0						TCAACTGCATCTCCAGGTGAA	0.687		NaN											0	0	0	1	0	9	25				
JUN	3725	broad.mit.edu	37	1	59248200	59248200	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:59248200C>T	uc001cze.2	-	1	1586	c.543G>A	c.(541-543)CTG>CTA	p.L181L	uc001czf.2_5'Flank|uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	jun oncogene	181					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding				0	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	CGCCGCTGCTCAGCGCGCCTG	0.746		NaN	A		sarcoma								0	0	0	1	0	3	5				
DOCK7	85440	broad.mit.edu	37	1	63003725	63003725	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:63003725G>A	uc001daq.2	-	28	3342	c.3308C>T	c.(3307-3309)TCA>TTA	p.S1103L	DOCK7_uc001dan.2_Missense_Mutation_p.S964L|DOCK7_uc001dao.2_Missense_Mutation_p.S964L|DOCK7_uc001dap.2_Missense_Mutation_p.S1072L|DOCK7_uc001dam.2_Missense_Mutation_p.S283L|DOCK7_uc010oov.1_5'Flank	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1103					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			ovary(2)	2						GTAAAGCTTTGAAGACACCTT	0.348		NaN											0	0	0	1	0	11	83				
DEPDC1	55635	broad.mit.edu	37	1	68948008	68948008	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:68948008C>T	uc001dem.3	-	8	1600	c.1483G>A	c.(1483-1485)GAG>AAG	p.E495K	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	495					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACAACTCCTCTTGGTCTTGA	0.368		NaN											0	0	0	1	0	19	74				
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:74492542C>T	uc001dfy.3	-	8	2022	c.1830G>A	c.(1828-1830)GTG>GTA	p.V610V	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610	Potential.									ovary(2)	2						AATTTGTTTTCACAATTGCTA	0.284		NaN											0	0	0	1	0	6	41				
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75065508C>T	uc001dgg.2	-	11	1816	c.1597G>A	c.(1597-1599)GAT>AAT	p.D533N	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D327N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	533	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						TCTTTTTTATCATCCAAAGGT	0.398		NaN											0	0	0	1	0	58	115				
TYW3	127253	broad.mit.edu	37	1	75198988	75198988	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:75198988C>T	uc001dgn.2	+	1	149	c.60C>T	c.(58-60)CTC>CTT	p.L20L	CRYZ_uc001dgk.2_5'UTR|CRYZ_uc001dgj.2_5'UTR|CRYZ_uc001dgl.2_5'UTR|CRYZ_uc001dgm.2_5'UTR|TYW3_uc010oqw.1_Silent_p.L20L|TYW3_uc010oqx.1_Silent_p.L20L|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	20					tRNA processing		methyltransferase activity			ovary(2)	2						AAGCGGACCTCAGCCGGAAGG	0.572		NaN											0	0	0	1	0	11	27				
DDAH1	23576	broad.mit.edu	37	1	85787136	85787136	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:85787136C>G	uc001dlb.2	-	6	1018	c.857G>C	c.(856-858)TGA>TCA	p.*286S	DDAH1_uc001dlc.2_Nonstop_Mutation_p.*183S|uc001dla.1_Intron|DDAH1_uc010osb.1_Nonstop_Mutation_p.*186S|DDAH1_uc009wco.2_Nonstop_Mutation_p.*183S	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	286					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTCTGCAGCTCAGGAGTCTAC	0.532		NaN											0	0	0	1	0	12	43				
LMO4	8543	broad.mit.edu	37	1	87797934	87797934	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:87797934G>C	uc001dmi.2	+	2	1016	c.236G>C	c.(235-237)AGG>ACG	p.R79T	LMO4_uc001dmj.2_Missense_Mutation_p.R79T	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	79	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GACTACATTAGGTAAGACTTT	0.537		NaN											0	0	0	1	0	18	19				
ABCA4	24	broad.mit.edu	37	1	94496677	94496677	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:94496677C>G	uc001dqh.2	-	28	4233	c.4129_splice	c.e28-1	p.I1377_splice		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		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)		GGAGCACGATCTGTGGGAGAA	0.473		NaN											0	0	0	1	0	9	25				
HIAT1	64645	broad.mit.edu	37	1	100533744	100533744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:100533744C>G	uc001dst.2	+	6	698	c.698C>G	c.(697-699)CCT>CGT	p.P233R		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	233	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAAGCTGACCCTTTTGCGGTA	0.413		NaN											0	0	0	1	0	6	34				
COL11A1	1301	broad.mit.edu	37	1	103540254	103540254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:103540254C>T	uc001dul.2	-	4	889	c.571G>A	c.(571-573)GAT>AAT	p.D191N	COL11A1_uc001dum.2_Missense_Mutation_p.D191N|COL11A1_uc001dun.2_Missense_Mutation_p.D191N|COL11A1_uc009weh.2_Missense_Mutation_p.D191N	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	191	TSP N-terminal.				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			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		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)		TCACTTCTATCAAGTGGTTTC	0.368		NaN											0	0	0	1	0	21	37				
FAM102B	284611	broad.mit.edu	37	1	109103119	109103119	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109103119C>T	uc010ouy.1	+	1	149	c.69C>T	c.(67-69)TTC>TTT	p.F23F		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	23										large_intestine(1)	1		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)		CAGTGCCCTTCGTCAATGGGG	0.607		NaN											0	0	0	1	0	8	33				
TAF13	6884	broad.mit.edu	37	1	109617651	109617651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:109617651C>A	uc001dwm.1	-	2	119	c.64G>T	c.(64-66)GAA>TAA	p.E22*		NM_005645	NP_005636	Q15543	TAF13_HUMAN	TBP-associated factor 13	22					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity				0		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCCACCTTCTGCACCTCCT	0.294		NaN											1	0	9.39024e-22	1	1.08151e-21	41	239				
MAGI3	260425	broad.mit.edu	37	1	114226264	114226264	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114226264C>G	uc001edk.2	+	21	4255	c.4074C>G	c.(4072-4074)ATC>ATG	p.I1358M	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1383					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAAAAATCAAAAGAATGG	0.368		NaN											0	0	0	1	0	4	22				
DCLRE1B	64858	broad.mit.edu	37	1	114454730	114454730	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:114454730C>T	uc001eeg.2	+	4	1687	c.1516C>T	c.(1516-1518)CTG>TTG	p.L506L	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Silent_p.L380L	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	506	TBM.			L->A: Abolishes interaction with TERF2.	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				0	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)		CAAATATCTTCTGACTCCAGT	0.498		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	1	0	26	129				
CASQ2	845	broad.mit.edu	37	1	116260464	116260464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:116260464G>A	uc001efx.3	-	8	1099	c.835C>T	c.(835-837)CCA>TCA	p.P279S	CASQ2_uc010owu.1_Missense_Mutation_p.P208S	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	279					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTACCTGGATCACTCTTC	0.453		NaN											0	0	0	1	0	18	110				
CD101	9398	broad.mit.edu	37	1	117564240	117564240	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:117564240C>A	uc010oxb.1	+	7	2121	c.2063C>A	c.(2062-2064)TCC>TAC	p.S688Y	CD101_uc009whd.2_Missense_Mutation_p.S688Y|CD101_uc010oxc.1_Missense_Mutation_p.S688Y|CD101_uc010oxd.1_Missense_Mutation_p.S626Y	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	688	Ig-like C2-type 6.|Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAAGAGCTCTCCATCAACTCC	0.343		NaN											1	0	0.184627	1	0.184921	5	32				
HSD3B1	3283	broad.mit.edu	37	1	120054248	120054248	+	Missense_Mutation	SNP	G	G	A	rs6684974	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:120054248G>A	uc001ehv.1	+	3	413	c.268G>A	c.(268-270)GGT>AGT	p.G90S	HSD3B1_uc001ehw.2_Missense_Mutation_p.G92S	NM_000862	NP_000853	P14060	3BHS1_HUMAN	3 beta-hydroxysteroid dehydrogenase 1	90					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGATGTCTTCGGTGTCACTCA	0.502		NaN											0	0	0	1	0	20	95				
PDE4DIP	9659	broad.mit.edu	37	1	144882612	144882612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:144882612G>A	uc001elw.3	-	24	3698	c.3407C>T	c.(3406-3408)CCA>CTA	p.P1136L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.P143L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1136					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGAGCTCTGGAGTAAGTTT	0.463		NaN	T	PDGFRB	MPD								0	0	0	1	0	53	312				
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:149871751G>T	uc001etf.2	+	2	260	c.139G>T	c.(139-141)GAG>TAG	p.E47*		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	47						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677		NaN											1	0	1.12685e-05	1	1.18122e-05	8	59				
C1orf51	148523	broad.mit.edu	37	1	150259019	150259019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259019C>T	uc001euh.2	+	6	947	c.811C>T	c.(811-813)CTC>TTC	p.L271F	C1orf51_uc001eui.2_Missense_Mutation_p.L183F|C1orf51_uc001euj.2_Missense_Mutation_p.L271F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	271											0	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)			CAACCCCCCTCTCAGCTCCCC	0.522		NaN											0	0	0	1	0	21	180				
C1orf51	148523	broad.mit.edu	37	1	150259021	150259021	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150259021C>T	uc001euh.2	+	6	949	c.813C>T	c.(811-813)CTC>CTT	p.L271L	C1orf51_uc001eui.2_Silent_p.L183L|C1orf51_uc001euj.2_Silent_p.L271L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	271											0	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)			ACCCCCCTCTCAGCTCCCCAG	0.527		NaN											0	0	0	1	0	16	185				
TARS2	80222	broad.mit.edu	37	1	150463082	150463082	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150463082C>G	uc001euq.2	+	4	400	c.393C>G	c.(391-393)TTC>TTG	p.F131L	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.F131L|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.F131L	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	131					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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)	CCCAGGTGTTCTGGCACTCCA	0.488		NaN											0	0	0	1	0	22	125				
HORMAD1	84072	broad.mit.edu	37	1	150676602	150676602	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150676602G>C	uc001evk.1	-	12	1046	c.940C>G	c.(940-942)CAT>GAT	p.H314D	HORMAD1_uc001evl.1_Missense_Mutation_p.H307D|HORMAD1_uc001evm.1_Missense_Mutation_p.H234D	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	314					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				ovary(2)|central_nervous_system(1)	3	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)			ACCTGAGAATGAGAAATAGAA	0.308		NaN											0	0	0	1	0	13	10				
SETDB1	9869	broad.mit.edu	37	1	150936790	150936790	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:150936790G>C	uc001evu.2	+	22	4016	c.3826G>C	c.(3826-3828)GAG>CAG	p.E1276Q	SETDB1_uc001evv.2_Missense_Mutation_p.E1275Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1276	Post-SET.				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			ovary(2)|upper_aerodigestive_tract(1)	3	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)			GGAAGGCAAGGAGCTACTCTG	0.507		NaN											0	0	0	1	0	10	60				
PIP5K1A	8394	broad.mit.edu	37	1	151214948	151214948	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151214948G>C	uc001exj.2	+	14	1997	c.1545G>C	c.(1543-1545)CAG>CAC	p.Q515H	PIP5K1A_uc001exi.2_Missense_Mutation_p.Q502H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.Q475H|PIP5K1A_uc001exk.2_Missense_Mutation_p.Q453H|PIP5K1A_uc010pcv.1_Intron	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	515					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			TTTTACCTCAGACTCCACCTT	0.458		NaN											0	0	0	1	0	37	132				
ZNF687	57592	broad.mit.edu	37	1	151259814	151259814	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151259814C>T	uc001exq.2	+	2	1145	c.1047C>T	c.(1045-1047)GTC>GTT	p.V349V	ZNF687_uc001exp.1_Silent_p.V358V|ZNF687_uc009wmo.2_Silent_p.V349V|ZNF687_uc009wmp.2_Silent_p.V349V	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	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)			TAACTCAGGTCCCCTCAGATC	0.562		NaN											0	0	0	1	0	39	60				
LINGO4	339398	broad.mit.edu	37	1	151773919	151773919	+	Missense_Mutation	SNP	C	C	T	rs143154971		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:151773919C>T	uc001ezf.1	-	2	1452	c.1262G>A	c.(1261-1263)CGA>CAA	p.R421Q		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	421	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATGACCCATCGAGGCCCCGA	0.607		NaN											0	0	0	1	0	13	126				
TCHH	7062	broad.mit.edu	37	1	152083292	152083292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152083292C>A	uc001ezp.2	-	2	2401	c.2401G>T	c.(2401-2403)GAG>TAG	p.E801*	TCHH_uc009wne.1_Nonsense_Mutation_p.E801*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	801					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCGCTCCTCGGCCCTCAGC	0.682		NaN											1	0	2.23348e-06	1	2.36288e-06	16	95				
FLG	2312	broad.mit.edu	37	1	152279889	152279889	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:152279889A>C	uc001ezu.1	-	3	7509	c.7473T>G	c.(7471-7473)CAT>CAG	p.H2491Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGAGACCCTG	0.542		NaN							Ichthyosis				0	0	0	1	0	186	609				
NUP210L	91181	broad.mit.edu	37	1	154076593	154076593	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154076593G>A	uc001fdw.2	-	13	1786	c.1714C>T	c.(1714-1716)CAC>TAC	p.H572Y	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.H572Y	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	572						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	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)			TTATTTATGTGATACATTGCA	0.388		NaN											0	0	0	1	0	20	126				
ADAR	103	broad.mit.edu	37	1	154573729	154573729	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:154573729C>T	uc001ffh.2	-	2	1589	c.1389G>A	c.(1387-1389)TTG>TTA	p.L463L	ADAR_uc001ffj.2_Silent_p.L463L|ADAR_uc001ffi.2_Silent_p.L463L|ADAR_uc001ffk.2_Silent_p.L168L|ADAR_uc001ffl.1_Silent_p.L168L	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	463					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGATACTATTCAAGTCATCTG	0.498		NaN											0	0	0	1	0	8	68				
TRIM46	80128	broad.mit.edu	37	1	155149435	155149435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155149435G>A	uc001fhs.1	+	4	780	c.697G>A	c.(697-699)GAG>AAG	p.E233K	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E220K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E233K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E107K|TRIM46_uc001fhu.1_Missense_Mutation_p.E210K|TRIM46_uc009wpg.1_Missense_Mutation_p.E220K|TRIM46_uc001fhv.3_Missense_Mutation_p.E220K|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	233	B box-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAAGGAAGAGGTGACCCA	0.557		NaN									OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	50	93				
RUSC1	23623	broad.mit.edu	37	1	155294700	155294700	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:155294700G>A	uc001fkj.2	+	3	1651	c.1422G>A	c.(1420-1422)CAG>CAA	p.Q474Q	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Silent_p.Q474Q|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Silent_p.Q5Q|RUSC1_uc001fkl.2_Silent_p.Q64Q|RUSC1_uc001fkp.2_Silent_p.Q5Q|RUSC1_uc001fkq.2_Silent_p.Q5Q|RUSC1_uc010pgb.1_Silent_p.Q5Q|RUSC1_uc009wqp.1_5'UTR|RUSC1_uc001fkn.2_Intron|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkr.2_Silent_p.Q5Q|RUSC1_uc001fks.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	474						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGAAGCCCAGAGTGGGACTG	0.642		NaN									OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	34	122				
FCRL2	79368	broad.mit.edu	37	1	157738293	157738293	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:157738293A>G	uc001fre.2	-	5	853	c.794T>C	c.(793-795)GTG>GCG	p.V265A	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V265A|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	265	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCTTTCACAGCTGGGAT	0.507		NaN											0	0	0	1	0	56	247				
CD1B	910	broad.mit.edu	37	1	158299235	158299235	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158299235C>A	uc001frx.2	-	4	919	c.811G>T	c.(811-813)GAT>TAT	p.D271Y	CD1B_uc001frw.2_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	271	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					GCCTCCCCATCTGCCACATCC	0.592		NaN											1	0	3.27435e-08	1	3.53832e-08	12	235				
SPTA1	6708	broad.mit.edu	37	1	158607885	158607885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158607885C>G	uc001fst.1	-	36	5326	c.5127G>C	c.(5125-5127)TTG>TTC	p.L1709F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1709	Spectrin 16.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGGCCTCTTTCAATTTTTCGT	0.423		NaN											0	0	0	1	0	16	186				
OR6N2	81442	broad.mit.edu	37	1	158746673	158746673	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:158746673G>A	uc010pir.1	-	1	753	c.753C>T	c.(751-753)TTC>TTT	p.F251F		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					TGCTCCCAAAGAAGATGAGGA	0.458		NaN											0	0	0	1	0	9	115				
KCNJ9	3765	broad.mit.edu	37	1	160054012	160054012	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:160054012C>T	uc001fuy.1	+	2	434	c.192C>T	c.(190-192)TTC>TTT	p.F64F		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	64	Helical; Name=M1; (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGTTCTTCGTCCTGGCCT	0.657		NaN											0	0	0	1	0	7	46				
PPOX	5498	broad.mit.edu	37	1	161138284	161138284	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161138284C>T	uc001fyj.2	+	6	824	c.534C>T	c.(532-534)CTC>CTT	p.L178L	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Silent_p.L178L|PPOX_uc001fyl.2_Silent_p.L144L|PPOX_uc001fym.2_Intron|PPOX_uc001fyk.2_Silent_p.L16L|PPOX_uc001fyh.2_Silent_p.L16L|PPOX_uc010pkg.1_Silent_p.L16L|PPOX_uc009wuc.1_Silent_p.L16L|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Silent_p.L16L	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	178					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCGTGAGCTCAGCATCAGGT	0.542		NaN							Porphyria_Variegata				0	0	0	1	0	17	232				
PPOX	5498	broad.mit.edu	37	1	161139803	161139803	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161139803C>G	uc001fyj.2	+	9	1266	c.976C>G	c.(976-978)CTG>GTG	p.L326V	PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.L326V|PPOX_uc001fyl.2_Missense_Mutation_p.L292V|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L164V|PPOX_uc001fyh.2_Missense_Mutation_p.L164V|PPOX_uc010pkg.1_Missense_Mutation_p.L164V|PPOX_uc009wuc.1_Missense_Mutation_p.L164V|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.L164V	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	326					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGAGCCCATCTGCCTGTCCA	0.383		NaN							Porphyria_Variegata				0	0	0	1	0	10	58				
PPOX	5498	broad.mit.edu	37	1	161140823	161140823	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161140823G>C	uc001fyj.2	+	13	1582	c.1292_splice	c.e13-1	p.E431_splice	PPOX_uc001fyn.2_Splice_Site_p.E139_splice|PPOX_uc001fyg.2_Splice_Site_p.E431_splice|PPOX_uc001fyl.2_Splice_Site_p.E397_splice|PPOX_uc001fym.2_Splice_Site|PPOX_uc001fyk.2_Splice_Site_p.E269_splice|PPOX_uc001fyh.2_Splice_Site_p.E269_splice|PPOX_uc010pkg.1_Splice_Site_p.E269_splice|PPOX_uc009wuc.1_Splice_Site_p.E232_splice|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTCCTTCCAGAGTCAGCTAG	0.517		NaN							Porphyria_Variegata				0	0	0	1	0	35	350				
SDHC	6391	broad.mit.edu	37	1	161298268	161298268	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:161298268C>A	uc001gag.2	+	3	190	c.160C>A	c.(160-162)CCC>ACC	p.P54T	SDHC_uc001gai.2_Missense_Mutation_p.P54T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	54	Mitochondrial matrix (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TCCTCTGTCTCCCCACATTAC	0.443		NaN	Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome				1	0	3.35115e-56	1	3.90244e-56	122	75				
ADCY10	55811	broad.mit.edu	37	1	167815465	167815465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:167815465G>A	uc001ger.2	-	20	2772	c.2474C>T	c.(2473-2475)TCC>TTC	p.S825F	ADCY10_uc009wvk.2_Missense_Mutation_p.S733F|ADCY10_uc010plj.1_Missense_Mutation_p.S672F|ADCY10_uc009wvl.2_Missense_Mutation_p.S824F	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	825					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CATTTGGTGGGAAAGTCTCAT	0.418		NaN											0	0	0	1	0	32	278				
PRDX6	9588	broad.mit.edu	37	1	173454569	173454569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173454569C>T	uc001giy.1	+	3	373	c.322C>T	c.(322-324)CGG>TGG	p.R108W		NM_004905	NP_004896	P30041	PRDX6_HUMAN	peroxiredoxin 6	108	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			central_nervous_system(1)	1						TGATAGGAATCGGGAGCTTGC	0.448		NaN											0	0	0	1	0	25	66				
SLC9A11	284525	broad.mit.edu	37	1	173486775	173486775	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:173486775C>A	uc001giz.2	-	23	3231	c.2808G>T	c.(2806-2808)ATG>ATT	p.M936I	SLC9A11_uc009wwe.2_Missense_Mutation_p.M494I	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	936	cNMP.				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						ACTCTGTAAACATGTCTCTGG	0.403		NaN											1	0	3.27435e-08	1	3.53832e-08	15	123				
CEP350	9857	broad.mit.edu	37	1	179989239	179989239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989239C>G	uc001gnt.2	+	12	2713	c.2330C>G	c.(2329-2331)TCT>TGT	p.S777C	CEP350_uc009wxl.2_Missense_Mutation_p.S776C|CEP350_uc001gnu.2_Missense_Mutation_p.S611C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	777						centrosome|nucleus|spindle				ovary(4)	4						GATTTTGAATCTATTTTACCA	0.408		NaN											0	0	0	1	0	12	109				
CEP350	9857	broad.mit.edu	37	1	179989832	179989832	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:179989832C>G	uc001gnt.2	+	12	3306	c.2923C>G	c.(2923-2925)CTT>GTT	p.L975V	CEP350_uc009wxl.2_Missense_Mutation_p.L974V|CEP350_uc001gnu.2_Missense_Mutation_p.L809V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	975						centrosome|nucleus|spindle				ovary(4)	4						CAAAATATCTCTTGGTTCCAG	0.473		NaN											0	0	0	1	0	23	145				
RGS16	6004	broad.mit.edu	37	1	182572430	182572430	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:182572430G>A	uc001gpl.3	-	2	243	c.89C>T	c.(88-90)TCA>TTA	p.S30L	RGS16_uc010pnv.1_Missense_Mutation_p.S30L	NM_002928	NP_002919	O15492	RGS16_HUMAN	regulator of G-protein signalling 16	30					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(1)	1						GCCCAGCTCTGATTTGTGAAG	0.488		NaN											0	0	0	1	0	49	63				
LAMC1	3915	broad.mit.edu	37	1	183086694	183086694	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:183086694G>C	uc001gpy.3	+	10	1970	c.1713G>C	c.(1711-1713)TTG>TTC	p.L571F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	571	Laminin IV type A.				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			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCAGGTGTTGAGTTATGGTC	0.502		NaN											0	0	0	1	0	12	68				
HMCN1	83872	broad.mit.edu	37	1	186151338	186151338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:186151338G>A	uc001grq.1	+	105	16562	c.16333G>A	c.(16333-16335)GAG>AAG	p.E5445K	HMCN1_uc001grs.1_Missense_Mutation_p.E897K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5445	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTGCCAGCATGAGTGTAAGAA	0.423		NaN											0	0	0	1	0	41	81				
CFHR1	3078	broad.mit.edu	37	1	196797300	196797300	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196797300G>A	uc001gtn.2	+	4	645	c.531G>A	c.(529-531)AGG>AGA	p.R177R	CFHR1_uc001gtm.2_Silent_p.R81R	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	177	Sushi 3.				complement activation	extracellular space					0						ATGAATGTAGGAGCCCTTATG	0.393		NaN											0	0	0	1	0	19	31				
CFHR4	10877	broad.mit.edu	37	1	196883726	196883726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:196883726G>T	uc001gto.2	+	4	610	c.541G>T	c.(541-543)GAA>TAA	p.E181*	CFHR4_uc009wyy.2_Nonsense_Mutation_p.E427*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E428*	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	181	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						CGATGGATATGAAATCAGTTA	0.388		NaN											1	0	1.02788e-11	1	1.15021e-11	16	60				
KIF14	9928	broad.mit.edu	37	1	200587334	200587334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587334G>C	uc010ppk.1	-	2	957	c.518C>G	c.(517-519)TCT>TGT	p.S173C	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	173	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						GGCAACAAAAGAGTTTTTAGC	0.358		NaN											0	0	0	1	0	37	75				
KIF14	9928	broad.mit.edu	37	1	200587382	200587382	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200587382G>C	uc010ppk.1	-	2	909	c.470C>G	c.(469-471)TCT>TGT	p.S157C	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	157	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						ACTTTCCTTAGAAACACCATT	0.353		NaN											0	0	0	1	0	24	61				
CAMSAP1L1	23271	broad.mit.edu	37	1	200819297	200819297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200819297G>A	uc001gvl.2	+	12	3703	c.3433G>A	c.(3433-3435)GAT>AAT	p.D1145N	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.D1134N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.D1118N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1145						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGAAAAATATGATGGAGAAAG	0.373		NaN											0	0	0	1	0	26	110				
KIF21B	23046	broad.mit.edu	37	1	200954093	200954093	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:200954093C>T	uc001gvs.1	-	27	4014	c.3697G>A	c.(3697-3699)GAT>AAT	p.D1233N	KIF21B_uc001gvr.1_Missense_Mutation_p.D1233N|KIF21B_uc009wzl.1_Missense_Mutation_p.D1233N|KIF21B_uc010ppn.1_Missense_Mutation_p.D1233N	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1233					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						AATCCCACATCTGTGGACCTG	0.612		NaN											0	0	0	1	0	8	40				
CACNA1S	779	broad.mit.edu	37	1	201030512	201030512	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201030512G>A	uc001gvv.2	-	25	3365	c.3138C>T	c.(3136-3138)ATC>ATT	p.I1046I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1046	III.|Helical; Name=S6 of repeat III; (Potential).|Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGATGTAGATGATGAAGAAGA	0.517		NaN											0	0	0	1	0	13	54				
CACNA1S	779	broad.mit.edu	37	1	201035414	201035414	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:201035414C>T	uc001gvv.2	-	21	2915	c.2688G>A	c.(2686-2688)CTG>CTA	p.L896L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	896	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGCACCCTCAGGATCTTCA	0.662		NaN											0	0	0	1	0	12	65				
LGR6	59352	broad.mit.edu	37	1	202272426	202272426	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202272426G>T	uc001gxu.2	+	10	949	c.949G>T	c.(949-951)GAC>TAC	p.D317Y	LGR6_uc001gxv.2_Missense_Mutation_p.D265Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D178Y|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	317	LRR 10.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGGTGCCATGGACATCCAGGA	0.502		NaN											1	0	5.35267e-07	1	5.71072e-07	17	62				
LGR6	59352	broad.mit.edu	37	1	202273726	202273726	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202273726G>C	uc001gxu.2	+	11	1038	c.1038G>C	c.(1036-1038)GGG>GGC	p.G346G	LGR6_uc001gxv.2_Silent_p.G294G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G207G|LGR6_uc009xac.1_RNA	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	346	LRR 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TCCCATCGGGGATGTGCCAAC	0.632		NaN											0	0	0	1	0	6	40				
LGR6	59352	broad.mit.edu	37	1	202278242	202278242	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202278242G>A	uc001gxu.2	+	15	1344	c.1344G>A	c.(1342-1344)CTG>CTA	p.L448L	LGR6_uc001gxv.2_Silent_p.L396L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.L309L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	448	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TGATGCATCTGAAGCTCAAAG	0.567		NaN											0	0	0	1	0	5	51				
LGR6	59352	broad.mit.edu	37	1	202283965	202283965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:202283965G>T	uc001gxu.2	+	17	1603	c.1603G>T	c.(1603-1605)GAG>TAG	p.E535*	LGR6_uc001gxv.2_Nonsense_Mutation_p.E483*|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Nonsense_Mutation_p.E396*	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	535	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						GCTGGAGATGGAGGACTCAAA	0.572		NaN											1	0	0.00198382	1	0.0020207	7	30				
CDK18	5129	broad.mit.edu	37	1	205492313	205492313	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:205492313G>T	uc001hcr.2	+	2	237	c.18G>T	c.(16-18)ATG>ATT	p.M6I	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_Intron|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.M6I|CDK18_uc001hcq.2_Missense_Mutation_p.M6I|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	4							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						TGAACAAGATGAAGAACTTTA	0.517		NaN											1	0	0.0477658	1	0.0481479	8	53				
CD46	4179	broad.mit.edu	37	1	207940986	207940986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:207940986G>C	uc001hgc.2	+	7	1047	c.891G>C	c.(889-891)TTG>TTC	p.L297F	CD46_uc001hgd.2_Intron|CD46_uc001hge.2_Intron|CD46_uc001hgf.2_Intron|CD46_uc001hgg.2_Intron|CD46_uc001hgh.2_Intron|CD46_uc001hgi.2_Intron|CD46_uc001hgj.2_Missense_Mutation_p.L297F|CD46_uc001hgk.2_Missense_Mutation_p.L297F|CD46_uc001hgl.2_Intron|CD46_uc001hgm.2_Intron|CD46_uc001hgn.2_Intron|CD46_uc001hgo.2_Missense_Mutation_p.L297F|CD46_uc001hgp.2_Intron	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	297	Extracellular (Potential).				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						CTCCAGCTTTGAGTCATTCAG	0.368		NaN											0	0	0	1	0	21	102				
IRF6	3664	broad.mit.edu	37	1	209964141	209964141	+	Silent	SNP	A	A	G	rs41303263	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:209964141A>G	uc001hhq.1	-	7	1022	c.759T>C	c.(757-759)TAT>TAC	p.Y253Y	IRF6_uc010psm.1_Silent_p.Y158Y|IRF6_uc009xct.1_Silent_p.Y253Y	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	253					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			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCAGGTCCCCATAGAAGAGTC	0.567		NaN								HNSCC(57;0.16)			0	0	0	1	0	6	74				
TATDN3	128387	broad.mit.edu	37	1	212965324	212965324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:212965324G>C	uc001hjo.2	+	1	155	c.61G>C	c.(61-63)GAC>CAC	p.D21H	NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D21H|TATDN3_uc010ptk.1_Missense_Mutation_p.D21H|TATDN3_uc001hjp.2_Missense_Mutation_p.D21H|TATDN3_uc010ptl.1_Missense_Mutation_p.D21H	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	21						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CCCGGACTTTGACCGCGTATG	0.657		NaN											0	0	0	1	0	6	18				
CENPF	1063	broad.mit.edu	37	1	214813365	214813365	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214813365G>C	uc001hkm.2	+	12	1858	c.1684G>C	c.(1684-1686)GAT>CAT	p.D562H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	562	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGCTGTGGCTGATCTGGAAAA	0.363		NaN											0	0	0	1	0	39	146				
CENPF	1063	broad.mit.edu	37	1	214826227	214826227	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:214826227C>A	uc001hkm.2	+	16	8391	c.8217C>A	c.(8215-8217)CTC>CTA	p.L2739L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2835	Potential.|Sufficient for self-association.|Sufficient for centromere localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAATGTCTCAGTTCACAGA	0.328		NaN											1	0	8.00594e-06	1	8.41325e-06	17	72				
TP53BP2	7159	broad.mit.edu	37	1	223983917	223983917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983917G>T	uc010pvb.1	-	13	2616	c.2324C>A	c.(2323-2325)TCA>TAA	p.S775*	TP53BP2_uc001hod.2_Nonsense_Mutation_p.S646*|TP53BP2_uc010puz.1_Nonsense_Mutation_p.S8*|TP53BP2_uc010pva.1_Nonsense_Mutation_p.S414*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	769					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GGATGGGTATGATGGGACAGA	0.478		NaN											1	0	6.12954e-19	1	7.0211e-19	25	126				
TP53BP2	7159	broad.mit.edu	37	1	223983926	223983926	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:223983926G>C	uc010pvb.1	-	13	2607	c.2315C>G	c.(2314-2316)TCT>TGT	p.S772C	TP53BP2_uc001hod.2_Missense_Mutation_p.S643C|TP53BP2_uc010puz.1_Missense_Mutation_p.S5C|TP53BP2_uc010pva.1_Missense_Mutation_p.S411C	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	766					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TGATGGGACAGAGATGGTCTC	0.468		NaN											0	0	0	1	0	25	115				
OBSCN	84033	broad.mit.edu	37	1	228495976	228495976	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:228495976G>T	uc009xez.1	+	47	12675	c.12631G>T	c.(12631-12633)GAT>TAT	p.D4211Y	OBSCN_uc001hsn.2_Missense_Mutation_p.D4211Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4211	Ig-like 43.				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			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGCTGTGCGGGATGGCCGCAT	0.632		NaN											1	0	4.36969e-10	1	4.83815e-10	13	16				
EXOC8	149371	broad.mit.edu	37	1	231472148	231472148	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231472148G>A	uc001huq.2	-	1	1431	c.1344C>T	c.(1342-1344)ATC>ATT	p.I448I		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	448					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGGCACCTTCGATGCGAAGCT	0.488		NaN											0	0	0	1	0	15	67				
EXOC8	149371	broad.mit.edu	37	1	231473029	231473029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:231473029C>T	uc001huq.2	-	1	550	c.463G>A	c.(463-465)GAG>AAG	p.E155K		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	155					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTTCCTTCCTCGCCTGGACCG	0.677		NaN											0	0	0	1	0	12	19				
HEATR1	55127	broad.mit.edu	37	1	236744562	236744562	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:236744562C>T	uc001hyd.1	-	20	2840	c.2715G>A	c.(2713-2715)AAG>AAA	p.K905K	HEATR1_uc009xgh.1_Silent_p.K148K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	905					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACACTGTGTCTTCTGAGAAG	0.408		NaN											0	0	0	1	0	25	107				
RYR2	6262	broad.mit.edu	37	1	237872849	237872849	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr1:237872849C>T	uc001hyl.1	+	70	10332	c.10212C>T	c.(10210-10212)ATC>ATT	p.I3404I	RYR2_uc010pxz.1_Silent_p.I359I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3404					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AAGTGTTTATCTACTGGTCGA	0.453		NaN											0	0	0	1	0	5	13				
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:4877927C>G	uc001ihi.2	+	4	500	c.385C>G	c.(385-387)CGA>GGA	p.R129G	AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Missense_Mutation_p.R90G|AKR1E2_uc001ihh.1_Missense_Mutation_p.R129G|AKR1E2_uc009xhw.2_Missense_Mutation_p.R129G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.R129G	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity				0						CTCACATCCTCGAGTGCAGGA	0.517		NaN											0	0	0	1	0	18	59				
PRKCQ	5588	broad.mit.edu	37	10	6540507	6540507	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:6540507C>A	uc001ijj.1	-	5	468	c.393G>T	c.(391-393)ATG>ATT	p.M131I	PRKCQ_uc009xim.1_Missense_Mutation_p.M131I|PRKCQ_uc001iji.1_Missense_Mutation_p.M164I|PRKCQ_uc009xin.1_Missense_Mutation_p.M95I|PRKCQ_uc010qax.1_Missense_Mutation_p.M6I	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	131					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			ovary(3)|lung(2)|large_intestine(1)	6						CAAATTCATTCATGTCCTTTG	0.527		NaN											1	0	3.52763e-06	1	3.72263e-06	18	30				
BEND7	222389	broad.mit.edu	37	10	13534731	13534731	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:13534731C>G	uc001imm.2	-	5	858	c.561G>C	c.(559-561)GAG>GAC	p.E187D	BEND7_uc001imo.3_Missense_Mutation_p.E200D	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	239							protein binding			ovary(1)|breast(1)	2						TTTTCTCCATCTCTGACCCAC	0.532		NaN											0	0	0	1	0	24	186				
CACNB2	783	broad.mit.edu	37	10	18690931	18690931	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:18690931G>C	uc001ipr.2	+	3	352	c.292G>C	c.(292-294)GAA>CAA	p.E98Q	CACNB2_uc009xjz.1_Missense_Mutation_p.E98Q|CACNB2_uc001ips.2_Missense_Mutation_p.E98Q|CACNB2_uc001ipt.2_Missense_Mutation_p.E98Q|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.E70Q|CACNB2_uc001ipv.2_Missense_Mutation_p.E70Q|CACNB2_uc009xka.1_Missense_Mutation_p.E70Q|CACNB2_uc001ipw.2_Missense_Mutation_p.E43Q|CACNB2_uc001ipx.2_Missense_Mutation_p.E43Q|CACNB2_uc009xkb.1_Missense_Mutation_p.E44Q|CACNB2_uc010qcm.1_Missense_Mutation_p.E44Q|CACNB2_uc001ipz.2_Missense_Mutation_p.E44Q|CACNB2_uc001ipy.2_Missense_Mutation_p.E44Q|CACNB2_uc010qcn.1_Missense_Mutation_p.E50Q|CACNB2_uc010qco.1_Missense_Mutation_p.E50Q|CACNB2_uc001iqa.2_Missense_Mutation_p.E50Q	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	98					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCGCAGAGAAGCGGAGCG	0.542		NaN											0	0	0	1	0	6	71				
ANKRD26	22852	broad.mit.edu	37	10	27318254	27318254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:27318254G>C	uc001ith.2	-	26	4008	c.3836C>G	c.(3835-3837)GCT>GGT	p.A1279G	ANKRD26_uc001itg.2_Missense_Mutation_p.A966G|ANKRD26_uc009xku.1_Missense_Mutation_p.A1280G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1279	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						ACATCTGACAGCTTCTGTATG	0.308		NaN											0	0	0	1	0	10	27				
SYT15	83849	broad.mit.edu	37	10	46963916	46963916	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:46963916G>A	uc001jea.2	-	7	1200	c.1047C>T	c.(1045-1047)TTC>TTT	p.F349F	SYT15_uc001jdz.2_Silent_p.F349F|SYT15_uc001jeb.2_Silent_p.F227F|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	349	Cytoplasmic (Potential).|C2 2.					integral to membrane|plasma membrane					0						CCTTGAAGCTGAAGGTCTCAT	0.532		NaN											0	0	0	1	0	6	48				
GDF10	2662	broad.mit.edu	37	10	48429210	48429210	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:48429210C>A	uc001jfb.2	-	2	1132	c.676G>T	c.(676-678)GAT>TAT	p.D226Y	GDF10_uc009xnp.2_Missense_Mutation_p.D225Y|GDF10_uc009xnq.1_Missense_Mutation_p.D226Y	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	226					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						TCCTCAGAATCCAGCTGGGCG	0.697		NaN											1	0	1	1	1	3	12				
JMJD1C	221037	broad.mit.edu	37	10	64937590	64937590	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:64937590C>T	uc001jmn.2	-	23	7411	c.7111G>A	c.(7111-7113)GAT>AAT	p.D2371N	JMJD1C_uc001jml.2_Missense_Mutation_p.D2134N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D2083N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D2189N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D2189N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmk.2_5'Flank|JMJD1C_uc001jmo.2_Missense_Mutation_p.D278N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2371	JmjC.				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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCATCCAAATCTTCTTCCTCA	0.363		NaN											0	0	0	1	0	5	16				
SIRT1	23411	broad.mit.edu	37	10	69672284	69672284	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:69672284C>T	uc001jnd.2	+	8	1464	c.1411C>T	c.(1411-1413)CAT>TAT	p.H471Y	SIRT1_uc010qis.1_Missense_Mutation_p.H176Y|SIRT1_uc009xpp.2_Missense_Mutation_p.H279Y|SIRT1_uc001jne.2_Missense_Mutation_p.H168Y	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	471	Deacetylase sirtuin-type.				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				0						ACCTTTGCCTCATCTGCATTT	0.378		NaN											0	0	0	1	0	30	33				
DDX50	79009	broad.mit.edu	37	10	70670973	70670973	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:70670973G>C	uc001jou.2	+	4	717	c.610G>C	c.(610-612)GAA>CAA	p.E204Q	DDX50_uc001jot.2_Missense_Mutation_p.E204Q|DDX50_uc010qjc.1_Missense_Mutation_p.E204Q	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	204	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						AAGAAATCAAGAAACAATTAA	0.368		NaN											0	0	0	1	0	17	83				
PPP3CB	5532	broad.mit.edu	37	10	75239090	75239090	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:75239090C>G	uc001jue.2	-	2	406	c.271G>C	c.(271-273)GAA>CAA	p.E91Q	PPP3CB_uc001juf.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E91Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E91Q|PPP3CB_uc001juh.2_Missense_Mutation_p.E5Q	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	91	Catalytic.									skin(1)	1	Prostate(51;0.0119)					ATTGGAGCTTCTACTTCTATC	0.368		NaN											0	0	0	1	0	40	134				
POLR3A	11128	broad.mit.edu	37	10	79781696	79781696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:79781696C>G	uc001jzn.2	-	7	1064	c.970G>C	c.(970-972)GAG>CAG	p.E324Q		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	324					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCGAGAGCTCACTGTTAATG	0.542		NaN											0	0	0	1	0	5	47				
LIPJ	142910	broad.mit.edu	37	10	90356673	90356673	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:90356673G>T	uc001kff.2	+	8	1017	c.703G>T	c.(703-705)GAC>TAC	p.D235Y		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	lipase, family member J	235					lipid catabolic process		hydrolase activity			ovary(1)	1		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)		GTTTGGATATGACCCAAAAAA	0.274		NaN											1	0	1.15088e-07	1	1.23835e-07	17	81				
PANK1	53354	broad.mit.edu	37	10	91353615	91353615	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:91353615C>T	uc001kgp.1	-	4	1598	c.1442G>A	c.(1441-1443)GGA>GAA	p.G481E	PANK1_uc001kgn.1_Missense_Mutation_p.G256E|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Missense_Mutation_p.G283E|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	481					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TTCATAGTCTCCTCCGTAAAT	0.463		NaN											0	0	0	1	0	72	159				
CEP55	55165	broad.mit.edu	37	10	95266787	95266787	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:95266787C>G	uc009xug.2	+	4	684	c.502C>G	c.(502-504)CAT>GAT	p.H168D	CEP55_uc001kiq.3_Missense_Mutation_p.H168D	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	168	Interaction with PDCD6IP.|Potential.|Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody					0		Colorectal(252;0.207)				AAATAATATTCATGAAATGGA	0.318		NaN											0	0	0	1	0	13	46				
RRP12	23223	broad.mit.edu	37	10	99125901	99125901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:99125901C>T	uc001knf.2	-	29	3620	c.3481G>A	c.(3481-3483)GAC>AAC	p.D1161N	RRP12_uc001kne.2_Missense_Mutation_p.D176N|RRP12_uc009xvl.2_Missense_Mutation_p.D278N|RRP12_uc009xvm.2_Missense_Mutation_p.D879N|RRP12_uc010qou.1_Missense_Mutation_p.D1100N|RRP12_uc009xvn.2_Missense_Mutation_p.D1061N	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1161						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGTTGCCGTCTGCCTCCTCC	0.597		NaN											0	0	0	1	0	27	74				
BLOC1S2	282991	broad.mit.edu	37	10	102045915	102045915	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:102045915G>A	uc001kqw.1	-	2	134	c.111C>T	c.(109-111)ATC>ATT	p.I37I	BLOC1S2_uc001kqv.1_5'UTR	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosome-related organelles	37					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		AGAGCTCAGTGATGTCAGCTT	0.602		NaN											0	0	0	1	0	17	62				
GBF1	8729	broad.mit.edu	37	10	104129979	104129979	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:104129979G>C	uc001kux.1	+	27	3625	c.3385G>C	c.(3385-3387)GAG>CAG	p.E1129Q	GBF1_uc001kuy.1_Missense_Mutation_p.E1129Q|GBF1_uc001kuz.1_Missense_Mutation_p.E1130Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1129					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			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTCCAGCTGGAGTCACTACA	0.463		NaN											0	0	0	1	0	94	114				
CALHM2	51063	broad.mit.edu	37	10	105207100	105207100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:105207100C>T	uc001kwz.2	-	3	1167	c.781G>A	c.(781-783)GAG>AAG	p.E261K	CALHM2_uc001kxa.2_Missense_Mutation_p.E261K|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.E261K	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	261						integral to membrane				skin(1)	1						ATCAGTTCCTCATCATCCTTG	0.607		NaN											0	0	0	1	0	13	67				
C10orf82	143379	broad.mit.edu	37	10	118425186	118425186	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:118425186G>C	uc001lcr.2	-	3	262	c.207C>G	c.(205-207)GTC>GTG	p.V69V	C10orf82_uc001lcs.1_Silent_p.V69V	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	69											0				all cancers(201;0.0143)		CCTCGGAGTTGACAGGTTTCA	0.567		NaN											0	0	0	1	0	9	42				
WDR11	55717	broad.mit.edu	37	10	122622425	122622425	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:122622425G>A	uc010qtf.1	+	5	943	c.705G>A	c.(703-705)GAG>GAA	p.E235E	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	235						integral to membrane					0						TCACTCAAGAGAAACCTAGGT	0.368		NaN											0	0	0	1	0	25	39				
C10orf90	118611	broad.mit.edu	37	10	128193522	128193522	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:128193522G>T	uc001ljq.2	-	3	368	c.247C>A	c.(247-249)CAC>AAC	p.H83N	C10orf90_uc001ljp.2_Missense_Mutation_p.H36N|C10orf90_uc010qum.1_Missense_Mutation_p.H180N|C10orf90_uc009yao.2_Missense_Mutation_p.H180N|C10orf90_uc001ljs.1_Missense_Mutation_p.H36N	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	83										ovary(1)|skin(1)	2		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)		TGCTTGGCGTGATGTGCACGA	0.517		NaN											1	0	5.60225e-13	1	6.33079e-13	28	81				
MKI67	4288	broad.mit.edu	37	10	129913840	129913840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:129913840C>G	uc001lke.2	-	7	1027	c.832G>C	c.(832-834)GAT>CAT	p.D278H	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	278					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		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)				TGTAAACCATCAGCACTTTCT	0.448		NaN											0	0	0	1	0	17	32				
GPR123	84435	broad.mit.edu	37	10	134942263	134942263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr10:134942263G>A	uc001llx.3	+	7	1367	c.931G>A	c.(931-933)GAG>AAG	p.E311K	GPR123_uc001llw.2_Missense_Mutation_p.E1030K	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		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)		CGCCAAGCGTGAGGACGTGTG	0.692		NaN											0	0	0	1	0	9	18				
RNH1	6050	broad.mit.edu	37	11	498609	498609	+	Silent	SNP	G	G	A	rs139771148	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:498609G>A	uc001lpk.1	-	6	2212	c.804C>T	c.(802-804)ATC>ATT	p.I268I	RNH1_uc001lpl.1_Silent_p.I268I|RNH1_uc001lpm.1_Silent_p.I268I|RNH1_uc001lpn.1_Silent_p.I268I|RNH1_uc001lpo.1_Silent_p.I268I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.I268I|RNH1_uc001lpt.1_Silent_p.I25I|RNH1_uc001lpq.1_Silent_p.I268I|RNH1_uc001lpr.1_Silent_p.I268I|RNH1_uc001lps.1_Silent_p.I268I	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	268	LRR 9.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGGCAGTGATGCCACACT	0.647		NaN											0	0	0	1	0	34	45				
MUC6	4588	broad.mit.edu	37	11	1028259	1028259	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1028259C>G	uc001lsw.2	-	14	1771	c.1720G>C	c.(1720-1722)GAG>CAG	p.E574Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	574	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		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)		GGGTCAGTCTCACGCTCCAGA	0.662		NaN											0	0	0	1	0	4	7				
CTSD	1509	broad.mit.edu	37	11	1775286	1775286	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1775286G>C	uc001luc.1	-	7	1043	c.910C>G	c.(910-912)CCG>GCG	p.P304A	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	304					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		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 Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATCCACCGGGCCCACCATG	0.602		NaN											0	0	0	1	0	6	22				
TNNI2	7136	broad.mit.edu	37	11	1862395	1862395	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:1862395G>C	uc010qxe.1	+	5	433	c.411G>C	c.(409-411)CTG>CTC	p.L137L	TNNI2_uc010qxc.1_Silent_p.L135L|TNNI2_uc010qxd.1_Silent_p.L135L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	137					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCATGGACCTGAGGGCCAACC	0.652		NaN											0	0	0	1	0	16	24				
TRPM5	29850	broad.mit.edu	37	11	2432724	2432724	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:2432724C>A	uc001lwm.3	-	18	2649	c.2640G>T	c.(2638-2640)CTG>CTT	p.L880L	TRPM5_uc010qxl.1_Silent_p.L880L|TRPM5_uc009ydn.2_Silent_p.L882L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	880	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCACACGCTCAGAAAGAAGA	0.672		NaN											1	0	0.000566183	1	0.000583312	15	68				
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:5221178G>A	uc010qyz.1	-	1	753	c.753C>T	c.(751-753)ATC>ATT	p.I251I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGGGAGATGCAGGTCT	0.483		NaN											0	0	0	1	0	22	52				
ZNF214	7761	broad.mit.edu	37	11	7021665	7021665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:7021665C>G	uc001mfa.2	-	3	1552	c.1249G>C	c.(1249-1251)GAA>CAA	p.E417Q	ZNF214_uc010ray.1_Missense_Mutation_p.E417Q|ZNF214_uc009yfh.1_Missense_Mutation_p.E417Q	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	417	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACAGTCTTCACATTTATAA	0.398		NaN											0	0	0	1	0	54	79				
ADM	133	broad.mit.edu	37	11	10327968	10327968	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:10327968G>A	uc001mik.1	+	3	955	c.338G>A	c.(337-339)GGG>GAG	p.G113E	ADM_uc001mil.1_Missense_Mutation_p.G113E|ADM_uc001mim.1_Missense_Mutation_p.G66E	NM_001124	NP_001115	P35318	ADML_HUMAN	adrenomedullin precursor	113					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)	1				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TGCCGCTTCGGGACGTGCACG	0.632		NaN											0	0	0	1	0	10	33				
PIK3C2A	5286	broad.mit.edu	37	11	17139154	17139154	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:17139154G>C	uc001mmq.3	-	18	3166	c.3100C>G	c.(3100-3102)CTC>GTC	p.L1034V	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.L654V|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1034					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			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	ACTGACAGGAGAGCACCCAAA	0.413		NaN											0	0	0	1	0	14	61				
ANO3	63982	broad.mit.edu	37	11	26463525	26463525	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:26463525C>T	uc001mqt.3	+	2	252	c.107C>T	c.(106-108)TCC>TTC	p.S36F	ANO3_uc010rdr.1_Missense_Mutation_p.S20F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	36	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TCTCGGAGATCCCTGCCTTGC	0.438		NaN											0	0	0	1	0	29	127				
CCDC34	91057	broad.mit.edu	37	11	27378991	27378991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:27378991C>T	uc001mrh.1	-	2	511	c.457G>A	c.(457-459)GAA>AAA	p.E153K	CCDC34_uc001mri.1_Missense_Mutation_p.E153K	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	153	Potential.										0						TCTTCTTTTTCTTTGCCAATA	0.433		NaN											0	0	0	1	0	16	92				
ABTB2	25841	broad.mit.edu	37	11	34189480	34189480	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:34189480C>A	uc001mvl.1	-	6	1295	c.1065G>T	c.(1063-1065)CTG>CTT	p.L355L		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	355							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGCATCAATCAACATCTGGA	0.562		NaN											1	0	0.004672	1	0.00473971	3	16				
LDLRAD3	143458	broad.mit.edu	37	11	36248961	36248961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:36248961G>T	uc001mwk.1	+	5	818	c.781G>T	c.(781-783)GAG>TAG	p.E261*	LDLRAD3_uc010rey.1_Nonsense_Mutation_p.E212*|LDLRAD3_uc010rez.1_Nonsense_Mutation_p.E140*|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	261	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CTCCTACTCCGAGGCCTTGCT	0.577		NaN											1	0	0.000442599	1	0.000456363	10	97				
OR4X1	390113	broad.mit.edu	37	11	48285748	48285748	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:48285748C>G	uc010rht.1	+	1	336	c.336C>G	c.(334-336)CTC>CTG	p.L112L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						AGGCCTTTCTCCTGATGGTGA	0.493		NaN											0	0	0	1	0	9	56				
OR5D18	219438	broad.mit.edu	37	11	55587800	55587800	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55587800T>C	uc010rin.1	+	1	695	c.695T>C	c.(694-696)GTC>GCC	p.V232A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				ATGCGTTCAGTCAGTGGGCGC	0.498		NaN											0	0	0	1	0	16	105				
OR5AS1	219447	broad.mit.edu	37	11	55798344	55798344	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:55798344C>T	uc010riw.1	+	1	450	c.450C>T	c.(448-450)TTC>TTT	p.F150F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TGGCATATTTCAGTGGAAGTA	0.453		NaN											0	0	0	1	0	17	235				
OR5M10	390167	broad.mit.edu	37	11	56345151	56345152	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:56345151_56345152CC>TT	uc001niz.1	-	1	46_47	c.46_47GG>AA	c.(46-48)GGA>AAA	p.G16K		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GTCTGTCAGTCCTAAGAGAATG	0.455		NaN											0	0	0	1	0	29	74				
SSRP1	6749	broad.mit.edu	37	11	57099862	57099862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:57099862C>T	uc001njt.2	-	7	1134	c.867G>A	c.(865-867)ATG>ATA	p.M289I		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	289					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			ovary(2)	2						CTCACTCGTTCATGTTCAGAG	0.522		NaN											0	0	0	1	0	26	129				
CNTF	1270	broad.mit.edu	37	11	58391557	58391557	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391557G>A	uc001nna.3	+	2	245	c.165G>A	c.(163-165)GGG>GGA	p.G55G	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	55					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCGGATGGGATGCCAGTGG	0.527		NaN											0	0	0	1	0	11	75				
CNTF	1270	broad.mit.edu	37	11	58391595	58391595	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:58391595C>A	uc001nna.3	+	2	283	c.203C>A	c.(202-204)ACC>AAC	p.T68N	ZFP91-CNTF_uc010rkm.1_RNA	NM_000614	NP_000605	P26441	CNTF_HUMAN	ciliary neurotrophic factor	68					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGTGAGCTGACCGAGGCAGAG	0.537		NaN											1	0	2.27111e-07	1	2.43748e-07	13	68				
OR5AN1	390195	broad.mit.edu	37	11	59132261	59132261	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59132261G>C	uc010rks.1	+	1	330	c.330G>C	c.(328-330)CTG>CTC	p.L110L		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CGATGGGACTGAGTGAGTCTT	0.443		NaN											0	0	0	1	0	19	194				
OR5A1	219982	broad.mit.edu	37	11	59211279	59211279	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:59211279C>T	uc001nnx.1	+	1	638	c.638C>T	c.(637-639)TCG>TTG	p.S213L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GGAGGAACATCGTTCCTCCAA	0.542		NaN											0	0	0	1	0	39	215				
PGA5	5222	broad.mit.edu	37	11	61017253	61017253	+	Missense_Mutation	SNP	G	G	T	rs139795742		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61017253G>T	uc001nqz.2	+	7	916	c.886G>T	c.(886-888)GAC>TAC	p.D296Y		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	296					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						CATCCAGAGCGACATCGGAGC	0.612		NaN											1	0	6.48837e-15	1	7.37181e-15	41	196				
C11orf9	745	broad.mit.edu	37	11	61548506	61548506	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61548506C>G	uc001nsc.1	+	20	2657	c.2561C>G	c.(2560-2562)TCT>TGT	p.S854C	C11orf9_uc001nse.1_Missense_Mutation_p.S819C|C11orf9_uc010rll.1_Missense_Mutation_p.S245C	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	854					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ATACAGCCCTCTTTGCTGCTG	0.617		NaN											0	0	0	1	0	10	44				
FADS2	9415	broad.mit.edu	37	11	61624491	61624491	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61624491G>C	uc001nsl.1	+	6	903	c.753G>C	c.(751-753)AAG>AAC	p.K251N	FADS2_uc001nsj.2_Missense_Mutation_p.K229N|FADS2_uc010rlo.1_Missense_Mutation_p.K220N|FADS2_uc001nsk.2_Missense_Mutation_p.K251N	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	251	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	AGTACGGCAAGAAGAAGCTGA	0.577		NaN											0	0	0	1	0	13	71				
FADS3	3995	broad.mit.edu	37	11	61646279	61646279	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:61646279G>C	uc001nsm.2	-	4	716	c.563C>G	c.(562-564)TCC>TGC	p.S188C	FADS3_uc001nsn.2_Missense_Mutation_p.S64C	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	188	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						CTTGAAGATGGAGGCATGGCC	0.642		NaN											0	0	0	1	0	7	44				
GANAB	23193	broad.mit.edu	37	11	62402467	62402467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62402467G>C	uc001nub.2	-	5	419	c.386C>G	c.(385-387)TCT>TGT	p.S129C	GANAB_uc001nua.2_Missense_Mutation_p.S129C|GANAB_uc001nuc.2_Missense_Mutation_p.S32C|GANAB_uc010rma.1_Missense_Mutation_p.S15C|GANAB_uc010rmb.1_Missense_Mutation_p.S15C	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	129					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						ACCAGAGACAGAAAGCCTGGG	0.463		NaN											0	0	0	1	0	16	76				
SLC22A8	9376	broad.mit.edu	37	11	62763271	62763271	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:62763271C>T	uc001nwo.2	-	7	1042	c.906G>A	c.(904-906)CAG>CAA	p.Q302Q	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.Q302Q|SLC22A8_uc009yom.2_Silent_p.Q179Q|SLC22A8_uc010rmm.1_Silent_p.Q211Q|SLC22A8_uc009yon.2_Silent_p.Q302Q	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	302	Cytoplasmic (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						AGATCTCCTTCTGCAGGTTGA	0.587		NaN											0	0	0	1	0	22	84				
RTN3	10313	broad.mit.edu	37	11	63520106	63520106	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63520106G>C	uc001nxq.2	+	5	3053	c.2866G>C	c.(2866-2868)GAC>CAC	p.D956H	RTN3_uc001nxo.2_Missense_Mutation_p.D160H|RTN3_uc001nxm.2_Missense_Mutation_p.D179H|RTN3_uc001nxn.2_Missense_Mutation_p.D937H|RTN3_uc001nxp.2_Missense_Mutation_p.D160H|RTN3_uc009yov.2_Missense_Mutation_p.D844H|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	956	Helical; (Potential).|Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						AGATCTGGTTGACTCCTTGAA	0.413		NaN											0	0	0	1	0	36	144				
C11orf84	144097	broad.mit.edu	37	11	63594565	63594565	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:63594565C>A	uc001nxt.2	+	6	1336	c.1100C>A	c.(1099-1101)TCC>TAC	p.S367Y	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	367											0						CTGTCAGAATCCAGCACCACT	0.612		NaN											1	0	0.000157383	1	0.00016281	8	33				
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64033997C>T	uc001nzb.2	+	29	3387	c.3387C>T	c.(3385-3387)ATC>ATT	p.I1129I	PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1129					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GTCGGCACATCACTGAGTCAG	0.632		NaN											0	0	0	1	0	16	36				
MEN1	4221	broad.mit.edu	37	11	64573830	64573830	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:64573830G>A	uc001obj.2	-	7	1011	c.938C>T	c.(937-939)TCA>TTA	p.S313L	MEN1_uc001obk.2_Missense_Mutation_p.S313L|MEN1_uc001obl.2_Missense_Mutation_p.S273L|MEN1_uc001obm.2_Missense_Mutation_p.S308L|MEN1_uc001obn.2_Missense_Mutation_p.S313L|MEN1_uc001obo.2_Missense_Mutation_p.S313L|MEN1_uc001obp.2_Missense_Mutation_p.S308L|MEN1_uc001obq.2_Missense_Mutation_p.S313L|MEN1_uc001obr.2_Missense_Mutation_p.S313L	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	313	Interaction with FANCD2.				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			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GGTCTTGGCTGAGGCAATGCC	0.622		NaN	D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	0	1	0	42	78				
LTBP3	4054	broad.mit.edu	37	11	65325173	65325173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65325173C>G	uc001oej.2	-	1	527	c.258G>C	c.(256-258)CAG>CAC	p.Q86H	LTBP3_uc010roi.1_5'UTR|LTBP3_uc001oei.2_Missense_Mutation_p.Q86H|LTBP3_uc010roj.1_Missense_Mutation_p.Q72H|LTBP3_uc010rok.1_5'UTR	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	86	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGTTGGAGCCCTGCTGACAAC	0.647		NaN											0	0	0	1	0	6	71				
PACS1	55690	broad.mit.edu	37	11	65998061	65998061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:65998061C>G	uc001oha.1	+	12	1551	c.1417C>G	c.(1417-1419)CTG>GTG	p.L473V	PACS1_uc010rou.1_Missense_Mutation_p.L9V	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	473					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						CAGCACGAGTCTGGTTGTGCC	0.542		NaN											0	0	0	1	0	9	52				
RBM4B	83759	broad.mit.edu	37	11	66444533	66444533	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66444533G>A	uc001oja.2	-	1	687	c.18C>T	c.(16-18)ATC>ATT	p.I6I	RBM4B_uc001ojb.2_Silent_p.I6I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	6	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GAAGGTTTCCGATGAACAGCT	0.502		NaN											0	0	0	1	0	21	139				
SPTBN2	6712	broad.mit.edu	37	11	66466202	66466202	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66466202C>T	uc001ojd.2	-	19	3994	c.3922G>A	c.(3922-3924)GAG>AAG	p.E1308K		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1308	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TTGCGGGCCTCGTCATAGGAC	0.562		NaN											0	0	0	1	0	12	69				
LRFN4	78999	broad.mit.edu	37	11	66627177	66627177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627177C>A	uc001ojr.2	+	2	1759	c.1419C>A	c.(1417-1419)TGC>TGA	p.C473*	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	473	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0						ATGACCTCTGCCTGCTGGCCT	0.687		NaN											1	0	1.12685e-05	1	1.18122e-05	8	20				
LRFN4	78999	broad.mit.edu	37	11	66627252	66627252	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627252C>A	uc001ojr.2	+	2	1834	c.1494C>A	c.(1492-1494)TCC>TCA	p.S498S	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	498	Extracellular (Potential).					integral to membrane					0						CCCATTTCTCCACGCTGCCGG	0.716		NaN											1	0	0.00116845	1	0.00119403	6	12				
LRFN4	78999	broad.mit.edu	37	11	66627354	66627354	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627354C>G	uc001ojr.2	+	2	1936	c.1596C>G	c.(1594-1596)GTC>GTG	p.V532V	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	532	Helical; (Potential).					integral to membrane					0						CCTTACTGGTCTTCACTGTGG	0.721		NaN											0	0	0	1	0	9	25				
LRFN4	78999	broad.mit.edu	37	11	66627411	66627411	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:66627411C>G	uc001ojr.2	+	2	1993	c.1653C>G	c.(1651-1653)CTC>CTG	p.L551L	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	551	Cytoplasmic (Potential).					integral to membrane					0						GCCTCCCCCTCAAGCTCAGCC	0.587		NaN											0	0	0	1	0	10	19				
NDUFV1	4723	broad.mit.edu	37	11	67377958	67377958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:67377958G>C	uc001omj.2	+	5	770	c.617G>C	c.(616-618)TGT>TCT	p.C206S	NDUFV1_uc010rpv.1_Missense_Mutation_p.C105S|NDUFV1_uc001oml.2_Missense_Mutation_p.C199S|NDUFV1_uc001omk.3_Missense_Mutation_p.C197S|NDUFV1_uc009yrz.1_Missense_Mutation_p.C105S|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	206	FMN (By similarity).				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GCCTACATCTGTGGAGAGGAG	0.602		NaN											0	0	0	1	0	44	106				
KRTAP5-7	440050	broad.mit.edu	37	11	71238672	71238672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71238672C>G	uc001oqq.1	+	1	360	c.326C>G	c.(325-327)TCA>TGA	p.S109*		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	109	7 X 4 AA repeats of C-C-X-P.					keratin filament					0						ggctgtgggtcatcctgctgc	0.139		NaN											0	0	0	1	0	71	198				
NUMA1	4926	broad.mit.edu	37	11	71726869	71726869	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:71726869C>G	uc001orl.1	-	15	1852	c.1680G>C	c.(1678-1680)CTG>CTC	p.L560L	NUMA1_uc009ysw.1_Silent_p.L123L|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L560L|NUMA1_uc001orn.2_Silent_p.L123L|NUMA1_uc009ysx.1_Silent_p.L560L|NUMA1_uc001oro.1_Silent_p.L560L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	560	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CCTTCTGCTTCAGGCTACTGC	0.612		NaN	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	150				
STARD10	10809	broad.mit.edu	37	11	72466776	72466776	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:72466776C>T	uc001osy.2	-	6	891	c.600G>A	c.(598-600)GTG>GTA	p.V200V	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.V200V|STARD10_uc001ota.2_Silent_p.V154V|STARD10_uc001otb.2_Silent_p.V200V	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	200	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			AAGATTTATTCACCACCCACT	0.592		NaN											0	0	0	1	0	13	35				
UCP2	7351	broad.mit.edu	37	11	73686631	73686631	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:73686631C>T	uc001oup.1	-	7	1100	c.720G>A	c.(718-720)ACG>ACA	p.T240T	UCP2_uc001ouq.1_Intron	NM_003355	NP_003346	P55851	UCP2_HUMAN	uncoupling protein 2	240	Solcar 3.				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)					TCATGTATCTCGTCTTGACCA	0.592		NaN											0	0	0	1	0	31	101				
CAPN5	726	broad.mit.edu	37	11	76825378	76825378	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76825378G>C	uc001oxx.2	+	5	782	c.597G>C	c.(595-597)CTG>CTC	p.L199L	CAPN5_uc009yup.2_Silent_p.L239L|CAPN5_uc009yuq.2_Silent_p.L235L|CAPN5_uc001oxy.2_Silent_p.L239L	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	199	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CCATCGACCTGACCGAGGGTG	0.582		NaN									OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	44	309				
MYO7A	4647	broad.mit.edu	37	11	76869381	76869381	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:76869381C>T	uc001oyb.2	+	9	1180	c.908C>T	c.(907-909)TCC>TTC	p.S303F	MYO7A_uc010rsl.1_Missense_Mutation_p.S303F|MYO7A_uc010rsm.1_Missense_Mutation_p.S292F|MYO7A_uc001oyc.2_Missense_Mutation_p.S303F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	303	Myosin head-like.				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			ovary(3)|breast(1)	4						AACATCCGCTCCGCCATGAAG	0.607		NaN											0	0	0	1	0	12	33				
AQP11	282679	broad.mit.edu	37	11	77301476	77301476	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:77301476C>T	uc001oyj.2	+	1	797	c.439C>T	c.(439-441)CAC>TAC	p.H147Y	AQP11_uc009yuu.2_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	147						cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GACCCAGTATCACGTCAGCGA	0.592		NaN											0	0	0	1	0	30	54				
NARS2	79731	broad.mit.edu	37	11	78270590	78270590	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78270590G>C	uc001ozi.2	-	5	965	c.589C>G	c.(589-591)CTT>GTT	p.L197V	NARS2_uc010rsq.1_5'UTR	NM_024678	NP_078954	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial	197					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			ovary(2)	2	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CTTACTTCAAGTTGAAAAAGT	0.353		NaN											0	0	0	1	0	26	142				
ODZ4	26011	broad.mit.edu	37	11	78433937	78433937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:78433937C>G	uc001ozl.3	-	24	4039	c.3576G>C	c.(3574-3576)GAG>GAC	p.E1192D		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1192	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CAAACTGGTTCTCCCCATTCC	0.552		NaN											0	0	0	1	0	24	33				
NAALAD2	10003	broad.mit.edu	37	11	89885637	89885637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:89885637G>A	uc001pdf.3	+	6	890	c.781G>A	c.(781-783)GGC>AGC	p.G261S	NAALAD2_uc009yvx.2_Missense_Mutation_p.G261S|NAALAD2_uc009yvy.2_Missense_Mutation_p.G261S|NAALAD2_uc001pdd.2_Missense_Mutation_p.G261S|NAALAD2_uc001pde.2_Missense_Mutation_p.G261S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	261	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTCACTCCAGGCTATCCAGC	0.448		NaN											0	0	0	1	0	16	33				
CCDC67	159989	broad.mit.edu	37	11	93097339	93097339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:93097339C>G	uc001pdq.2	+	5	411	c.311C>G	c.(310-312)ACA>AGA	p.T104R	CCDC67_uc001pdo.1_Missense_Mutation_p.T104R|CCDC67_uc001pdp.2_Missense_Mutation_p.T104R	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	104	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCCAAACTAACAAATAACTTT	0.303		NaN											0	0	0	1	0	5	25				
PIWIL4	143689	broad.mit.edu	37	11	94328539	94328539	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:94328539C>G	uc001pfa.2	+	10	1426	c.1215C>G	c.(1213-1215)CTC>CTG	p.L405L	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	405					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			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGACACGTCTCAGTCCTTCAG	0.502		NaN											0	0	0	1	0	19	116				
JRKL	8690	broad.mit.edu	37	11	96124003	96124003	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:96124003C>G	uc009ywu.2	+	2	442	c.190C>G	c.(190-192)CTT>GTT	p.L64V	CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L64V	NM_003772	NP_003763	Q9Y4A0	JERKL_HUMAN	jerky homolog-like	64					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TTCCACAAGTCTTTTGGCCAA	0.398		NaN											0	0	0	1	0	18	104				
CNTN5	53942	broad.mit.edu	37	11	99827554	99827554	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:99827554G>T	uc001pga.2	+	8	1029	c.690G>T	c.(688-690)TGG>TGT	p.W230C	CNTN5_uc009ywv.1_Missense_Mutation_p.W230C|CNTN5_uc001pfz.2_Missense_Mutation_p.W230C|CNTN5_uc001pgb.2_Missense_Mutation_p.W156C	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	230	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		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)		TCTATAGCTGGGTATTTAATG	0.393		NaN											1	0	8.00594e-06	1	8.41325e-06	19	48				
YAP1	10413	broad.mit.edu	37	11	102100566	102100566	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:102100566G>C	uc001pgt.2	+	9	1780	c.1410G>C	c.(1408-1410)CTG>CTC	p.L470L	YAP1_uc001pgs.2_Silent_p.L420L|YAP1_uc001pgu.2_Silent_p.L454L|YAP1_uc001pgv.2_Silent_p.L416L|YAP1_uc010ruo.1_Silent_p.L292L|YAP1_uc001pgw.2_Silent_p.L294L|YAP1_uc010rup.1_Silent_p.L235L	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	470	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAGAGGAGCTGATGCCAAGTC	0.463		NaN											0	0	0	1	0	14	104				
CUL5	8065	broad.mit.edu	37	11	107959270	107959270	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:107959270C>G	uc001pjv.2	+	12	1862	c.1195C>G	c.(1195-1197)CAG>GAG	p.Q399E	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	399					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTAAAAACTCAGCCTGAATC	0.338		NaN											0	0	0	1	0	13	76				
EXPH5	23086	broad.mit.edu	37	11	108381565	108381565	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:108381565C>G	uc001pkk.2	-	6	4780	c.4669G>C	c.(4669-4671)GAT>CAT	p.D1557H	EXPH5_uc010rvy.1_Missense_Mutation_p.D1369H|EXPH5_uc010rvz.1_Missense_Mutation_p.D1401H|EXPH5_uc010rwa.1_Missense_Mutation_p.D1481H	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1557					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		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)		TGCATTTCATCTTCAGCCTTC	0.418		NaN											0	0	0	1	0	21	117				
RDX	5962	broad.mit.edu	37	11	110134918	110134918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110134918G>C	uc001pku.2	-	5	544	c.234C>G	c.(232-234)TTC>TTG	p.F78L	RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.F78L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.F46L|RDX_uc010rwe.1_Intron	NM_002906	NP_002897	P35241	RADI_HUMAN	radixin	78	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding				0		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)		CTCTAAACTTGAACTGTAAAG	0.303		NaN											0	0	0	1	0	21	30				
ARHGAP20	57569	broad.mit.edu	37	11	110450129	110450129	+	Missense_Mutation	SNP	C	C	T	rs148304862	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:110450129C>T	uc001pkz.1	-	16	3826	c.3541G>A	c.(3541-3543)GAC>AAC	p.D1181N	ARHGAP20_uc001pky.1_Missense_Mutation_p.D1158N|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001pla.1_Missense_Mutation_p.D1145N|ARHGAP20_uc001plb.2_Missense_Mutation_p.D724N	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTCAATGTCGCAGACCACT	0.448		NaN											0	0	0	1	0	23	125				
SDHD	6392	broad.mit.edu	37	11	111965691	111965691	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:111965691C>G	uc001pmz.2	+	4	538	c.477C>G	c.(475-477)CTC>CTG	p.L159L		NM_003002	NP_002993	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D	159	Mitochondrial intermembrane (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding				0		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TGTGGAAGCTCTGACCTTTTT	0.423		NaN	Mis|N|F|S			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome				0	0	0	1	0	24	66				
PAFAH1B2	5049	broad.mit.edu	37	11	117023231	117023231	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117023231G>C	uc001pqe.1	+	2	170	c.68G>C	c.(67-69)CGA>CCA	p.R23P	PAFAH1B2_uc009yzk.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.R23P|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	NM_002572	NP_002563	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase,	23					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GGAGATGACCGATGGATGTCT	0.353		NaN	T	IGH@	MLCLS								0	0	0	1	0	6	55				
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:117859132G>C	uc001prv.2	+	2	180	c.103G>C	c.(103-105)GAA>CAA	p.E35Q	IL10RA_uc010rxl.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxm.1_Missense_Mutation_p.E15Q|IL10RA_uc010rxn.1_5'UTR|IL10RA_uc001prw.2_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	35	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.468		NaN											0	0	0	1	0	30	110				
CD3G	917	broad.mit.edu	37	11	118221328	118221328	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118221328C>T	uc001psu.2	+	4	449	c.369C>T	c.(367-369)ATC>ATT	p.I123I	CD3G_uc009zaa.1_Silent_p.I63I	NM_000073	NP_000064	P09693	CD3G_HUMAN	CD3G antigen, gamma polypeptide precursor	123	Helical; (Potential).				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGCTGAAATCGTCAGCATTT	0.463		NaN											0	0	0	1	0	27	103				
MLL	4297	broad.mit.edu	37	11	118369132	118369132	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118369132C>T	uc001pta.2	+	22	5864	c.5841C>T	c.(5839-5841)CTC>CTT	p.L1947L	MLL_uc001ptb.2_Silent_p.L1950L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1947					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTTGCTGTCTCACATCCTGCA	0.423		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	105	191				
MLL	4297	broad.mit.edu	37	11	118375134	118375134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118375134G>A	uc001pta.2	+	27	8541	c.8518G>A	c.(8518-8520)GAC>AAC	p.D2840N	MLL_uc001ptb.2_Missense_Mutation_p.D2843N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2840					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAACAGTGATGACTGTGGGAA	0.443		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	56	129		Valid		
MLL	4297	broad.mit.edu	37	11	118390358	118390358	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390358G>A	uc001pta.2	+	32	11186	c.11163G>A	c.(11161-11163)GGG>GGA	p.G3721G	MLL_uc001ptb.2_Silent_p.G3724G	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3721	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GGATGCTGGGGATTCTCCATG	0.493		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	1	0	22	151				
MLL	4297	broad.mit.edu	37	11	118390449	118390449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118390449G>T	uc001pta.2	+	32	11277	c.11254G>T	c.(11254-11256)GAG>TAG	p.E3752*	MLL_uc001ptb.2_Nonsense_Mutation_p.E3755*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3752					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAGCCAGAGGAGGCCAATGA	0.522		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								1	0	3.45872e-05	1	3.61359e-05	16	107		Valid		
UPK2	7379	broad.mit.edu	37	11	118827612	118827612	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827612C>G	uc001puh.2	+	2	131	c.96C>G	c.(94-96)CTC>CTG	p.L32L		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	32					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCTCAAGCCTCTCTGGTCTGC	0.627		NaN									OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	12	68				
UPK2	7379	broad.mit.edu	37	11	118827675	118827675	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118827675C>T	uc001puh.2	+	2	194	c.159C>T	c.(157-159)CTC>CTT	p.L53L		NM_006760	NP_006751	O00526	UPK2_HUMAN	uroplakin 2 precursor	53					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTGTCACCTCACAGGAGGCA	0.592		NaN									OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	10	79				
TRAPPC4	51399	broad.mit.edu	37	11	118889918	118889918	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:118889918G>C	uc010ryo.1	+	2	506	c.241G>C	c.(241-243)GAG>CAG	p.E81Q	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.E81Q|TRAPPC4_uc010ryp.1_Missense_Mutation_p.E81Q|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.E81Q	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	81					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CGACGGGAAAGAGGTGCTGGA	0.562		NaN											0	0	0	1	0	13	62				
CBL	867	broad.mit.edu	37	11	119149302	119149302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149302G>T	uc001pwe.2	+	9	1448	c.1310G>T	c.(1309-1311)AGA>ATA	p.R437I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	437	Asp/Glu-rich (acidic).				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	p.E366_K477del(1)		haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		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)		TTTGATCCTAGAGGGAGTGGC	0.483		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				1	0	1.36615e-20	1	1.57057e-20	36	78				
CBL	867	broad.mit.edu	37	11	119149399	119149399	+	Missense_Mutation	SNP	G	G	A	rs138277394		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:119149399G>A	uc001pwe.2	+	9	1545	c.1407G>A	c.(1405-1407)ATG>ATA	p.M469I		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	469	Asp/Glu-rich (acidic).				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	p.E366_K477del(1)		haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		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)		CTCTCTTCATGATGAAGGAAT	0.463		NaN							CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				0	0	0	1	0	21	55				
SORL1	6653	broad.mit.edu	37	11	121384943	121384943	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121384943C>G	uc001pxx.2	+	8	1204	c.1124C>G	c.(1123-1125)TCA>TGA	p.S375*		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	375	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		TTATACATCTCAGAGGCAGAG	0.512		NaN											0	0	0	1	0	15	70				
SORL1	6653	broad.mit.edu	37	11	121424706	121424706	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:121424706C>T	uc001pxx.2	+	17	2407	c.2327C>T	c.(2326-2328)TCG>TTG	p.S776L		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	776	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		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)		GACCTGGCCTCGGGAGCCACC	0.567		NaN											0	0	0	1	0	47	134				
BSX	390259	broad.mit.edu	37	11	122848503	122848503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:122848503C>A	uc010rzs.1	-	3	556	c.556G>T	c.(556-558)GAG>TAG	p.E186*		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	186											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGGCTGCCCTCGGGGCTTTCT	0.647		NaN											1	0	0.00307968	1	0.00313441	8	32				
SLC37A2	219855	broad.mit.edu	37	11	124933296	124933296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:124933296C>T	uc001qbn.2	+	1	284	c.33C>T	c.(31-33)TTC>TTT	p.F11F	SLC37A2_uc010sau.1_Silent_p.F11F	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	11					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GAGTCTGGTTCTTCCGGGCCT	0.711		NaN											0	0	0	1	0	5	12				
NFRKB	4798	broad.mit.edu	37	11	129752028	129752028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr11:129752028G>A	uc001qfi.2	-	11	1345	c.1144C>T	c.(1144-1146)CTT>TTT	p.L382F	NFRKB_uc001qfg.2_Missense_Mutation_p.L407F|NFRKB_uc001qfh.2_Missense_Mutation_p.L405F|NFRKB_uc010sbw.1_Missense_Mutation_p.L394F	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	382					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTAATAGAAGAGAGAAGAAG	0.403		NaN									OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	16	16				
NINJ2	4815	broad.mit.edu	37	12	674518	674518	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:674518G>A	uc001qil.2	-	3	541	c.450C>T	c.(448-450)CTC>CTT	p.L150L		NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	104	Cytoplasmic (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTGCGTTGTTGAGCTGGTTGA	0.557		NaN											0	0	0	1	0	18	93				
CACNA1C	775	broad.mit.edu	37	12	2797857	2797857	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:2797857G>T	uc009zdu.1	+	49	6591	c.6278G>T	c.(6277-6279)AGA>ATA	p.R2093I	CACNA1C_uc009zdv.1_Missense_Mutation_p.R2007I|CACNA1C_uc001qkb.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkc.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qke.2_Missense_Mutation_p.R1999I|CACNA1C_uc001qkf.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qjz.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkd.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qkg.2_Missense_Mutation_p.R2016I|CACNA1C_uc009zdw.1_Missense_Mutation_p.R2051I|CACNA1C_uc001qkh.2_Missense_Mutation_p.R2018I|CACNA1C_uc001qkl.2_Missense_Mutation_p.R2058I|CACNA1C_uc001qkn.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qko.2_Missense_Mutation_p.R2030I|CACNA1C_uc001qkp.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkr.2_Missense_Mutation_p.R2027I|CACNA1C_uc001qku.2_Missense_Mutation_p.R2045I|CACNA1C_uc001qkq.2_Missense_Mutation_p.R2038I|CACNA1C_uc001qks.2_Missense_Mutation_p.R2010I|CACNA1C_uc001qkt.2_Missense_Mutation_p.R2029I|CACNA1C_uc001qki.1_Missense_Mutation_p.R1817I|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1781I|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1746I|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1806I|CACNA1C_uc010sea.1_Missense_Mutation_p.R701I|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R328I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2093	Cytoplasmic (Potential).				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			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692		NaN											1	0	0.00116845	1	0.00119403	6	33				
C12orf4	57102	broad.mit.edu	37	12	4643350	4643350	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:4643350C>T	uc001qms.2	-	3	385	c.297G>A	c.(295-297)GCG>GCA	p.A99A	C12orf4_uc001qmt.2_Silent_p.A99A	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	99											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CCCATGTACTCGCCAGCTGAT	0.393		NaN											0	0	0	1	0	32	55				
NOP2	4839	broad.mit.edu	37	12	6675398	6675398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6675398C>A	uc001qpk.1	-	4	387	c.343G>T	c.(343-345)GAG>TAG	p.E115*	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpi.1_Nonsense_Mutation_p.E111*|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Nonsense_Mutation_p.E115*|NOP2_uc001qpm.1_Nonsense_Mutation_p.E115*			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	115					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TCCTCCTCCTCTTCCTCATCA	0.562		NaN											1	0	1.33987e-11	1	1.49799e-11	11	34				
C12orf53	196500	broad.mit.edu	37	12	6804697	6804697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6804697G>T	uc001qqf.1	-	5	802	c.726C>A	c.(724-726)TTC>TTA	p.F242L	C12orf53_uc001qqg.1_Missense_Mutation_p.F242L	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	242	Cytoplasmic (Potential).					integral to membrane					0						GTGAGTCCCCGAAGGCCCCCA	0.692		NaN											1	0	0.000673444	1	0.000690993	11	45				
GNB3	2784	broad.mit.edu	37	12	6954828	6954828	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:6954828G>A	uc001qrd.2	+	10	1183	c.778G>A	c.(778-780)GAG>AAG	p.E260K	GNB3_uc001qrc.2_Missense_Mutation_p.E216K|GNB3_uc009zfe.2_Missense_Mutation_p.E259K|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	NM_002075	NP_002066	P16520	GBB3_HUMAN	guanine nucleotide-binding protein, beta-3	260					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity				0						GGCAGACCAGGAGCTGATCTG	0.607		NaN											0	0	0	1	0	47	135				
ZNF705A	440077	broad.mit.edu	37	12	8329747	8329747	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:8329747C>G	uc001qud.1	+	5	543	c.471C>G	c.(469-471)TTC>TTG	p.F157L		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		GTAATCTTTTCTCCCCTAAAC	0.373		NaN											0	0	0	1	0	43	227				
PZP	5858	broad.mit.edu	37	12	9305777	9305777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9305777C>G	uc001qvl.2	-	30	3966	c.3937G>C	c.(3937-3939)GAG>CAG	p.E1313Q	PZP_uc009zgl.2_Missense_Mutation_p.E1099Q	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						CCAGGGAGCTCTGGCAATGAG	0.433		NaN											0	0	0	1	0	60	137				
PZP	5858	broad.mit.edu	37	12	9321515	9321515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:9321515G>C	uc001qvl.2	-	17	2086	c.2057C>G	c.(2056-2058)TCA>TGA	p.S686*	PZP_uc009zgl.2_Nonsense_Mutation_p.S555*|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_Nonsense_Mutation_p.S18*	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						AGGGATGACTGAACACGACTT	0.368		NaN											0	0	0	1	0	12	84				
DUSP16	80824	broad.mit.edu	37	12	12673996	12673996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:12673996C>T	uc001rao.1	-	2	669	c.37G>A	c.(37-39)GAG>AAG	p.E13K	DUSP16_uc001ran.1_5'UTR	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	13					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				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ACCAACCTCTCAGTAACAATT	0.438		NaN											0	0	0	1	0	7	31				
GSG1	83445	broad.mit.edu	37	12	13238096	13238096	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:13238096G>C	uc001rbn.2	-	7	1001	c.828C>G	c.(826-828)TTC>TTG	p.F276L	GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282E|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318E|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318E	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	263						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTTGCACTTGAACTCCAGCA	0.557		NaN											0	0	0	1	0	6	58				
KIAA0528	9847	broad.mit.edu	37	12	22697070	22697070	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:22697070C>T	uc001rfq.2	-	2	243	c.15G>A	c.(13-15)CTG>CTA	p.L5L	KIAA0528_uc010sis.1_Silent_p.L5L|KIAA0528_uc010sit.1_Silent_p.L5L|KIAA0528_uc010siu.1_Silent_p.L5L|KIAA0528_uc001rfr.2_Silent_p.L5L|KIAA0528_uc009ziy.1_Silent_p.L5L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	5	C2.						protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TTTTCACCTTCAGCTTCCCTG	0.627		NaN											0	0	0	1	0	21	51				
ITPR2	3709	broad.mit.edu	37	12	26714780	26714780	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:26714780C>A	uc001rhg.2	-	35	5153	c.4736G>T	c.(4735-4737)AGA>ATA	p.R1579I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1579	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGCTGATAGTCTCCAACCCAT	0.448		NaN											1	0	3.09899e-07	1	3.31189e-07	9	52				
OVCH1	341350	broad.mit.edu	37	12	29604325	29604325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:29604325G>C	uc001rix.1	-	22	2708	c.2708C>G	c.(2707-2709)TCA>TGA	p.S903*		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	903	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATTAGAACTGAGTCTTGACA	0.438		NaN											0	0	0	1	0	6	36				
KIF21A	55605	broad.mit.edu	37	12	39726897	39726897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39726897G>A	uc001rly.2	-	19	2646	c.2500C>T	c.(2500-2502)CGT>TGT	p.R834C	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151C|KIF21A_uc001rlx.2_Missense_Mutation_p.R821C|KIF21A_uc001rlz.2_Missense_Mutation_p.R798C|KIF21A_uc010skl.1_Missense_Mutation_p.R821C	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				ACTTGCCGACGAAGAGCCGTA	0.448		NaN											0	0	0	1	0	49	93				
KIF21A	55605	broad.mit.edu	37	12	39751995	39751995	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:39751995G>C	uc001rly.2	-	8	1346	c.1200C>G	c.(1198-1200)CTC>CTG	p.L400L	KIF21A_uc001rlx.2_Silent_p.L400L|KIF21A_uc001rlz.2_Silent_p.L400L|KIF21A_uc010skl.1_Silent_p.L400L|KIF21A_uc001rma.1_Silent_p.L408L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	400	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACTCCATGAGCTCCATCT	0.398		NaN											0	0	0	1	0	35	206				
ABCD2	225	broad.mit.edu	37	12	40001459	40001459	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:40001459C>T	uc001rmb.2	-	3	1604	c.1178G>A	c.(1177-1179)CGA>CAA	p.R393Q		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	393	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						CAGTAAATTTCGAGCAGTGGT	0.323		NaN											0	0	0	1	0	26	71				
CNTN1	1272	broad.mit.edu	37	12	41312446	41312446	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:41312446G>A	uc001rmm.1	+	4	213	c.100G>A	c.(100-102)GAG>AAG	p.E34K	CNTN1_uc009zjy.1_Missense_Mutation_p.E34K|CNTN1_uc001rmn.1_Missense_Mutation_p.E23K|CNTN1_uc001rmo.2_Missense_Mutation_p.E34K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	34					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTAGTTTCTGAGGAAGACAA	0.323		NaN											0	0	0	1	0	7	40				
PLEKHA9	51054	broad.mit.edu	37	12	45567593	45567593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:45567593C>T	uc001rom.1	-	3	1093	c.556G>A	c.(556-558)GAG>AAG	p.E186K	PLEKHA9_uc009zke.2_Missense_Mutation_p.E186K	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)		TTGCCTTCCTCCCAGAGGCAT	0.403		NaN											0	0	0	1	0	79	114				
TMEM106C	79022	broad.mit.edu	37	12	48358114	48358114	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48358114A>T	uc001rqp.2	+	2	210	c.95A>T	c.(94-96)GAA>GTA	p.E32V	TMEM106C_uc001rqo.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqr.2_Missense_Mutation_p.E32V|TMEM106C_uc001rqq.2_Missense_Mutation_p.E32V	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a	32						endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CGAGAGCAGGAAGAAGCCATT	0.562		NaN											0	0	0	1	0	8	38				
SENP1	29843	broad.mit.edu	37	12	48482603	48482603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48482603C>T	uc001rqx.2	-	5	807	c.361G>A	c.(361-363)GAA>AAA	p.E121K	SENP1_uc001rqw.2_Missense_Mutation_p.E121K|SENP1_uc001rqy.2_5'UTR|SENP1_uc001rqz.2_5'UTR|SENP1_uc009zkx.2_Missense_Mutation_p.E121K	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	121	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTCGGGTTTCGAGGTAAAGA	0.403		NaN											0	0	0	1	0	5	9				
OR10AD1	121275	broad.mit.edu	37	12	48597027	48597027	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:48597027G>T	uc001rrl.1	-	1	49	c.49C>A	c.(49-51)CAG>AAG	p.Q17K		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GAGCTCTGCTGAAAGCCCACG	0.507		NaN											1	0	0.248553	1	0.24875	6	52				
MLL2	8085	broad.mit.edu	37	12	49420241	49420241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:49420241G>A	uc001rta.3	-	48	15508	c.15508C>T	c.(15508-15510)CAG>TAG	p.Q5170*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5170					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCTCCCCGCTGAATGATGCTA	0.572		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			0	0	0	1	0	5	43		Valid		
FMNL3	91010	broad.mit.edu	37	12	50047084	50047084	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50047084C>G	uc001ruv.1	-	13	1482	c.1248G>C	c.(1246-1248)GAG>GAC	p.E416D	FMNL3_uc001ruw.1_Missense_Mutation_p.E365D|FMNL3_uc001rut.1_5'Flank|FMNL3_uc001ruu.1_Missense_Mutation_p.E266D	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	416	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						TGTTTTCATTCTCTAGGTCCA	0.532		NaN											0	0	0	1	0	25	128				
LIMA1	51474	broad.mit.edu	37	12	50570907	50570907	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:50570907G>C	uc001rwj.3	-	11	2394	c.2220C>G	c.(2218-2220)CTC>CTG	p.L740L	LIMA1_uc001rwg.3_Silent_p.L438L|LIMA1_uc001rwh.3_Silent_p.L579L|LIMA1_uc001rwi.3_Silent_p.L581L|LIMA1_uc001rwk.3_Silent_p.L741L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	740					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			ovary(1)	1						CTTCCACAGAGAGCTCTTTGA	0.423		NaN											0	0	0	1	0	60	274				
KRT6A	3853	broad.mit.edu	37	12	52882123	52882123	+	Silent	SNP	A	A	G	rs1132960		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52882123A>G	uc001sam.2	-	7	1622	c.1413T>C	c.(1411-1413)GGT>GGC	p.G471G		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	471	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCACTCCTCACCCTCCAGCA	0.577		NaN											0	0	0	1	0	18	101				
KRT5	3852	broad.mit.edu	37	12	52913532	52913532	+	Silent	SNP	G	G	A	rs61726460		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:52913532G>A	uc001san.2	-	1	712	c.549C>T	c.(547-549)ATC>ATT	p.I183I	KRT5_uc009zmh.2_Silent_p.I183I	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	183	Coil 1A.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGTCGATGAAGGAGG	0.468		NaN											0	0	0	1	0	28	100				
RARG	5916	broad.mit.edu	37	12	53608346	53608346	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53608346C>T	uc001sce.2	-	6	1005	c.520G>A	c.(520-522)GAA>AAA	p.E174K	RARG_uc001scd.2_Missense_Mutation_p.E163K|RARG_uc010sob.1_Missense_Mutation_p.E152K|RARG_uc001scf.2_Missense_Mutation_p.E174K|RARG_uc001scg.2_Missense_Mutation_p.E102K|RARG_uc010soc.1_Missense_Mutation_p.E53K|RARG_uc010sod.1_Missense_Mutation_p.E211K	NM_000966	NP_000957	P13631	RARG_HUMAN	retinoic acid receptor, gamma isoform 1	174	Hinge.				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			breast(2)|ovary(1)|lung(1)	4					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTGACCCTTCTTCCTTCACC	0.557		NaN											0	0	0	1	0	11	25				
SP7	121340	broad.mit.edu	37	12	53722170	53722170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53722170C>T	uc001sct.2	-	2	1163	c.1056G>A	c.(1054-1056)AAG>AAA	p.K352K	SP7_uc001scu.2_Silent_p.K334K|SP7_uc001scv.2_Silent_p.K352K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGTGAACTTCTTCTCCCGGG	0.622		NaN									OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	13	49				
SP1	6667	broad.mit.edu	37	12	53776785	53776785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53776785C>T	uc001scw.2	+	3	1151	c.1054C>T	c.(1054-1056)CAA>TAA	p.Q352*	SP1_uc010sog.1_Nonsense_Mutation_p.Q345*	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	352	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCAACTCTCAAGGCCAGAC	0.502		NaN											0	0	0	1	0	8	49				
SP1	6667	broad.mit.edu	37	12	53777068	53777068	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53777068C>G	uc001scw.2	+	3	1434	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	SP1_uc010sog.1_Missense_Mutation_p.S439C	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	446	Transactivation domain B (Gln-rich).				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			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GTTCCAAACTCTGGTCCCATC	0.557		NaN											0	0	0	1	0	19	86				
AMHR2	269	broad.mit.edu	37	12	53825228	53825228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53825228C>T	uc001scx.1	+	11	1771	c.1693C>T	c.(1693-1695)CAG>TAG	p.Q565*	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	565	Cytoplasmic (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	CAGGAATCCTCAGCCTGCCTG	0.498		NaN							Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				0	0	0	1	0	32	45				
MAP3K12	7786	broad.mit.edu	37	12	53881144	53881144	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:53881144G>A	uc001sdm.1	-	2	130	c.32C>T	c.(31-33)TCT>TTT	p.S11F	MAP3K12_uc001sdn.1_Missense_Mutation_p.S11F	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	11					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AAAGGAAGGAGAGGGTGTTCG	0.597		NaN											0	0	0	1	0	26	47				
HOXC8	3224	broad.mit.edu	37	12	54403245	54403245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54403245C>G	uc001ser.2	+	1	356	c.177C>G	c.(175-177)TTC>TTG	p.F59L		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	59						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTCAAGACTTCTTCCACCACG	0.652		NaN											0	0	0	1	0	30	171				
NCKAP1L	3071	broad.mit.edu	37	12	54917701	54917701	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:54917701C>G	uc001sgc.3	+	20	2196	c.2117C>G	c.(2116-2118)TCT>TGT	p.S706C	NCKAP1L_uc010sox.1_Missense_Mutation_p.S248C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S656C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	706					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			ovary(3)|central_nervous_system(1)	4						ATCTTCCCTTCTGAGTACCTC	0.448		NaN											0	0	0	1	0	9	67				
DGKA	1606	broad.mit.edu	37	12	56347534	56347534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56347534C>A	uc001sij.2	+	24	2454	c.2190C>A	c.(2188-2190)TTC>TTA	p.F730L	DGKA_uc001sik.2_Missense_Mutation_p.F730L|DGKA_uc001sil.2_Missense_Mutation_p.F730L|DGKA_uc001sim.2_Missense_Mutation_p.F730L|DGKA_uc001sin.2_Missense_Mutation_p.F730L|DGKA_uc009zof.2_Missense_Mutation_p.F376L|DGKA_uc001sio.2_Missense_Mutation_p.F472L	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	730					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			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	CCACCAATTTCTTTGGCTTCT	0.582		NaN											1	0	1.02788e-11	1	1.15021e-11	17	47				
OBFC2B	79035	broad.mit.edu	37	12	56618691	56618691	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56618691G>T	uc001ski.2	+	2	175	c.51G>T	c.(49-51)CTG>CTT	p.L17L	OBFC2B_uc001skk.2_Silent_p.L42L|OBFC2B_uc001skj.2_Silent_p.L33L|RNF41_uc001ske.1_5'Flank|RNF41_uc001skf.1_5'Flank|RNF41_uc001skg.1_5'Flank|RNF41_uc010sqg.1_5'Flank|RNF41_uc010sqh.1_5'Flank|RNF41_uc001skh.2_5'Flank	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	17					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						TCAAGAATCTGAACCTTATCT	0.577		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function			OREG0021922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	8.12818e-05	1	8.44313e-05	6	52				
PAN2	9924	broad.mit.edu	37	12	56715866	56715866	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:56715866C>T	uc001skx.2	-	20	3169	c.2796G>A	c.(2794-2796)CTG>CTA	p.L932L	PAN2_uc001skw.2_Silent_p.L80L|PAN2_uc001skz.2_Silent_p.L931L|PAN2_uc001sky.2_Silent_p.L928L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	932					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						ACTTACTGTTCAGGTTGTATC	0.408		NaN											0	0	0	1	0	53	83				
OSBPL8	114882	broad.mit.edu	37	12	76750481	76750481	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:76750481C>A	uc001sye.1	-	23	2942	c.2462G>T	c.(2461-2463)AGA>ATA	p.R821I	OSBPL8_uc001syf.1_Missense_Mutation_p.R779I|OSBPL8_uc001syg.1_Missense_Mutation_p.R779I	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	821					lipid transport		lipid binding			ovary(1)	1						TCCTTTCTTTCTTCTTGTACT	0.289		NaN											1	0	1.3612e-06	1	1.44492e-06	14	34				
ATP2B1	490	broad.mit.edu	37	12	89996871	89996871	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:89996871G>A	uc001tbh.2	-	17	3190	c.3009C>T	c.(3007-3009)ATC>ATT	p.I1003I	ATP2B1_uc001tbg.2_Silent_p.I1003I|ATP2B1_uc001tbf.2_Silent_p.I673I	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1003	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						CATTGTTAAAGATTCCTTCGA	0.343		NaN											0	0	0	1	0	17	45				
ANO4	121601	broad.mit.edu	37	12	101442134	101442134	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101442134G>A	uc010svm.1	+	14	1839	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	ANO4_uc001thw.2_Missense_Mutation_p.D388N|ANO4_uc001thx.2_Missense_Mutation_p.D423N|ANO4_uc001thy.2_5'UTR	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	423	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CCACCTTTTTGACAATGGAGC	0.343		NaN								HNSCC(74;0.22)			0	0	0	1	0	15	65				
UTP20	27340	broad.mit.edu	37	12	101702091	101702091	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:101702091G>C	uc001tia.1	+	18	2280	c.2124G>C	c.(2122-2124)CAG>CAC	p.Q708H		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	708					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			ovary(2)|breast(2)	4						ATGTGGTACAGACTGCTGTCC	0.383		NaN											0	0	0	1	0	14	52				
CMKLR1	1240	broad.mit.edu	37	12	108685927	108685927	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:108685927G>A	uc009zuw.2	-	3	1004	c.813C>T	c.(811-813)CTC>CTT	p.L271L	CMKLR1_uc001tmw.2_Silent_p.L271L|CMKLR1_uc001tmv.2_Silent_p.L269L|CMKLR1_uc009zuv.2_Silent_p.L271L	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	271	Helical; Name=6; (Potential).				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			lung(3)|ovary(1)|pancreas(1)	5						GGCACCAGCAGAGGAAGAAGG	0.562		NaN											0	0	0	1	0	8	39				
ACACB	32	broad.mit.edu	37	12	109577219	109577219	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:109577219G>A	uc001tob.2	+	2	128	c.9G>A	c.(7-9)TTG>TTA	p.L3L	ACACB_uc001toc.2_Silent_p.L3L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	3					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			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GAATGGTCTTGCTTCTTTGTC	0.388		NaN											0	0	0	1	0	24	31				
ACAD10	80724	broad.mit.edu	37	12	112187122	112187122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:112187122G>C	uc001tsq.2	+	18	2990	c.2790G>C	c.(2788-2790)GAG>GAC	p.E930D	ACAD10_uc009zvx.2_Missense_Mutation_p.E961D|ACAD10_uc001tss.1_Intron	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	930							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGTTCTCAGAGAGGGCCCTGG	0.617		NaN											0	0	0	1	0	11	65				
OAS1	4938	broad.mit.edu	37	12	113348980	113348980	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:113348980G>A	uc001tud.2	+	3	700	c.594G>A	c.(592-594)CTG>CTA	p.L198L	OAS1_uc010syn.1_Silent_p.L197L|OAS1_uc010syo.1_Missense_Mutation_p.E182K|OAS1_uc001tub.2_Silent_p.L198L|OAS1_uc001tuc.2_Silent_p.L198L|OAS1_uc009zwf.2_Silent_p.L197L	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	198					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2						GAGACTTCCTGAAGCAGCGCC	0.562		NaN											0	0	0	1	0	12	64				
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121454196C>T	uc001tzh.1	-	1	105	c.82G>A	c.(82-84)GAG>AAG	p.E28K	C12orf43_uc009zxa.1_Missense_Mutation_p.E28K|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.E28K|C12orf43_uc001tzi.1_Missense_Mutation_p.E28K	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	28											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637		NaN											0	0	0	1	0	18	38				
CAMKK2	10645	broad.mit.edu	37	12	121711915	121711915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:121711915G>C	uc001tzu.2	-	2	539	c.415C>G	c.(415-417)CGG>GGG	p.R139G	CAMKK2_uc001tzt.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzv.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzw.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzx.2_Missense_Mutation_p.R139G|CAMKK2_uc001tzy.2_Missense_Mutation_p.R139G|CAMKK2_uc001uaa.1_Missense_Mutation_p.R139G|CAMKK2_uc001uab.2_Missense_Mutation_p.R139G|CAMKK2_uc001uac.2_Missense_Mutation_p.R139G|CAMKK2_uc001uad.1_Missense_Mutation_p.R139G	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	139					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGGCAGCCGAGGCGAGGAC	0.697		NaN											0	0	0	1	0	3	6				
DNAH10	196385	broad.mit.edu	37	12	124298139	124298139	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:124298139C>A	uc001uft.3	+	19	3244	c.3219C>A	c.(3217-3219)CTC>CTA	p.L1073L	DNAH10_uc010tav.1_Silent_p.L615L|DNAH10_uc010taw.1_Silent_p.L558L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1073	Stem (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	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)		GAAAACTTCTCAATGAGTCAG	0.428		NaN											1	0	1.08611e-07	1	1.16965e-07	12	51				
SCARB1	949	broad.mit.edu	37	12	125270804	125270804	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:125270804C>G	uc001ugo.3	-	11	1753	c.1500G>C	c.(1498-1500)TGG>TGC	p.W500C	SCARB1_uc001ugn.3_Intron|SCARB1_uc001ugm.3_Intron|SCARB1_uc010tbd.1_Intron|SCARB1_uc010tbe.1_Missense_Mutation_p.W459C|SCARB1_uc001ugp.3_Missense_Mutation_p.W500C	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	500	Cytoplasmic (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GAGGTGGGCTCCAGGCTGCGG	0.672		NaN											0	0	0	1	0	8	34				
RAN	5901	broad.mit.edu	37	12	131357396	131357396	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:131357396G>T	uc001uir.2	+	3	117	c.52G>T	c.(52-54)GAT>TAT	p.D18Y	RAN_uc010tbk.1_5'UTR|RAN_uc010tbl.1_5'UTR|RAN_uc001uis.2_Missense_Mutation_p.D38Y	NM_006325	NP_006316	P62826	RAN_HUMAN	ras-related nuclear protein	18	GTP (By similarity).				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ATTGGTTGGTGATGGTGGTAC	0.423		NaN											1	0	1.56452e-12	1	1.76009e-12	19	119				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs28513925	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132547093A>G	uc001ujn.2	+	46	8216	c.8181A>G	c.(8179-8181)CAA>CAG	p.Q2727Q	EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	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)		agcagcaacaacagcagcagc	0.294		NaN											0	0	0	1	0	15	45				
DDX51	317781	broad.mit.edu	37	12	132625003	132625003	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:132625003C>T	uc001ujy.3	-	11	1677	c.1638G>A	c.(1636-1638)ATG>ATA	p.M546I		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	546	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	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)		GCTTCAGGATCATCCTCCTCT	0.627		NaN											0	0	0	1	0	25	69				
PXMP2	5827	broad.mit.edu	37	12	133277849	133277849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr12:133277849C>A	uc001ukt.2	+	4	478	c.413C>A	c.(412-414)TCA>TAA	p.S138*	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	138	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		AAAGACGCCTCAGCCTTCGCC	0.587		NaN											1	0	1.56452e-12	1	1.76009e-12	18	126				
EFHA1	221154	broad.mit.edu	37	13	22077089	22077089	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:22077089C>G	uc001uof.2	-	9	931	c.909G>C	c.(907-909)GTG>GTC	p.V303V	EFHA1_uc010tct.1_Silent_p.V93V	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	303	EF-hand 3.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		ACTTCTCTCTCACATTTTTCC	0.313		NaN											0	0	0	1	0	9	70				
SPATA13	221178	broad.mit.edu	37	13	24868970	24868970	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24868970G>C	uc001upg.1	+	9	1706	c.1299G>C	c.(1297-1299)AAG>AAC	p.K433N	SPATA13_uc001upd.1_Missense_Mutation_p.K1058N|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Missense_Mutation_p.K379N|SPATA13_uc010tcz.1_Missense_Mutation_p.K317N|SPATA13_uc010tda.1_Missense_Mutation_p.K377N|SPATA13_uc001uph.2_Missense_Mutation_p.K355N|SPATA13_uc010tdb.1_Missense_Mutation_p.K293N|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	433					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			skin(2)|ovary(1)	3		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)		GCATCGACAAGATAGCTCGCT	0.547		NaN											0	0	0	1	0	9	57				
C1QTNF9	338872	broad.mit.edu	37	13	24890172	24890172	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24890172G>A	uc001upj.2	+	2	92	c.31G>A	c.(31-33)GAA>AAA	p.E11K	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	11						collagen	hormone activity				0		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)		GCTTGCCATTGAAATCTGCAC	0.517		NaN											0	0	0	1	0	12	97				
ATP12A	479	broad.mit.edu	37	13	25266996	25266996	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25266996G>A	uc001upp.2	+	10	1526	c.1339G>A	c.(1339-1341)GAG>AAG	p.E447K	ATP12A_uc010aaa.2_Missense_Mutation_p.E453K	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	447	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		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)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TAACCGAGCAGAGTTCAAGCC	0.463		NaN											0	0	0	1	0	38	267				
FAM123A	219287	broad.mit.edu	37	13	25744264	25744264	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:25744264G>C	uc001uqb.2	-	1	1594	c.1494C>G	c.(1492-1494)ATC>ATG	p.I498M	FAM123A_uc001uqa.2_Missense_Mutation_p.I379M|FAM123A_uc001uqc.2_Missense_Mutation_p.I379M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	498										ovary(2)|large_intestine(1)|lung(1)	4		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)		GATGGGGCTCGATGGGAATCC	0.647		NaN											0	0	0	1	0	8	62				
FRY	10129	broad.mit.edu	37	13	32811880	32811880	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32811880G>C	uc001utx.2	+	44	6671	c.6175G>C	c.(6175-6177)GAA>CAA	p.E2059Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		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)		TTTTGAGTTTGAATACTTAAT	0.498		NaN											0	0	0	1	0	12	63				
BRCA2	675	broad.mit.edu	37	13	32915107	32915107	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:32915107G>T	uc001uub.1	+	11	6842	c.6615G>T	c.(6613-6615)GTG>GTT	p.V2205V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2205					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			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		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)		ATGTTCCTGTGAAAACAAATA	0.323		NaN	D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)			1	0	3.67414e-24	1	4.24328e-24	35	80				
KL	9365	broad.mit.edu	37	13	33628033	33628033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:33628033C>G	uc001uus.2	+	2	957	c.949C>G	c.(949-951)CAA>GAA	p.Q317E	KL_uc001uur.1_Missense_Mutation_p.Q10E	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	317	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAAAGAATGTCAAAAATCTCT	0.453		NaN											0	0	0	1	0	61	125				
FREM2	341640	broad.mit.edu	37	13	39433440	39433440	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:39433440A>G	uc001uwv.2	+	14	7541	c.7232A>G	c.(7231-7233)TAT>TGT	p.Y2411C	FREM2_uc001uww.2_Missense_Mutation_p.Y497C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2411	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		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)		AACCCCAAATATTCAGACTAC	0.483		NaN											0	0	0	1	0	33	119				
MRPS31	10240	broad.mit.edu	37	13	41341064	41341064	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:41341064C>G	uc001uxm.3	-	2	333	c.258G>C	c.(256-258)GAG>GAC	p.E86D		NM_005830	NP_005821	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31 precursor	86						mitochondrion|ribosome	protein domain specific binding				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		TGTCTTGGCTCTCTGAAGTCT	0.373		NaN											0	0	0	1	0	28	75				
RB1	5925	broad.mit.edu	37	13	48947603	48947603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:48947603C>G	uc001vcb.2	+	12	1356	c.1190C>G	c.(1189-1191)TCA>TGA	p.S397*	RB1_uc010act.1_Nonsense_Mutation_p.S98*	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	397	Domain A.|Pocket; binds T and E1A.				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	p.?(7)|p.S397fs*1(2)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		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 Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCAACCTTCAGAAAATCTG	0.289		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)			0	0	0	1	0	20	172		Invalid		
KLF5	688	broad.mit.edu	37	13	73636016	73636016	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:73636016G>C	uc001vje.2	+	2	603	c.279G>C	c.(277-279)GAG>GAC	p.E93D	KLF5_uc001vjd.2_Missense_Mutation_p.E2D	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	93					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GTGAAATGGAGAAGTATCTGA	0.408		NaN											0	0	0	1	0	21	132		Valid		
SCEL	8796	broad.mit.edu	37	13	78130748	78130748	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:78130748C>G	uc001vki.2	+	3	231	c.61C>G	c.(61-63)CAG>GAG	p.Q21E	SCEL_uc001vkj.2_Missense_Mutation_p.Q21E|SCEL_uc010thx.1_Missense_Mutation_p.Q21E	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	21					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAGCACCACTCAGGGAACCAC	0.433		NaN											0	0	0	1	0	42	260				
MBNL2	10150	broad.mit.edu	37	13	97986587	97986587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:97986587C>T	uc010aft.2	+	3	1048	c.232C>T	c.(232-234)CAA>TAA	p.Q78*	MBNL2_uc001vmz.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vna.2_Nonsense_Mutation_p.Q78*|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Nonsense_Mutation_p.Q78*	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	78					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTTAAAAACTCAACTAGAAAT	0.398		NaN											0	0	0	1	0	22	54				
TPP2	7174	broad.mit.edu	37	13	103286425	103286425	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103286425G>A	uc001vpi.3	+	11	1473	c.1370G>A	c.(1369-1371)GGA>GAA	p.G457E		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	457					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATGCATGTGGAGGCATTGCC	0.453		NaN											0	0	0	1	0	21	73				
C13orf39	196541	broad.mit.edu	37	13	103343288	103343288	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:103343288G>A	uc001vpj.2	-	2	163	c.157C>T	c.(157-159)CAT>TAT	p.H53Y	C13orf39_uc001vpk.2_Missense_Mutation_p.H53Y	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	53							methyltransferase activity				0						TGGAGGCTATGAAGAGATGGT	0.403		NaN											0	0	0	1	0	22	105				
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:111156284G>A	uc001vqx.2	+	44	4518	c.4229G>A	c.(4228-4230)CGA>CAA	p.R1410Q		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	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)			CAGGGGAGGCGAGGCCCCCCT	0.731		NaN											0	0	0	1	0	11	31				
CUL4A	8451	broad.mit.edu	37	13	113887597	113887597	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:113887597G>A	uc010tjy.1	+	7	630	c.619G>A	c.(619-621)GAG>AAG	p.E207K	CUL4A_uc010tjx.1_Missense_Mutation_p.E107K|CUL4A_uc010agu.2_Missense_Mutation_p.E68K|CUL4A_uc001vtl.1_5'Flank	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	207					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAGGAGCGGCGAGGCCGTGGA	0.542		NaN											0	0	0	1	0	10	57				
RASA3	22821	broad.mit.edu	37	13	114765114	114765114	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:114765114C>T	uc001vui.2	-	20	2010	c.1879G>A	c.(1879-1881)GAG>AAG	p.E627K	RASA3_uc010tkk.1_Missense_Mutation_p.E595K|RASA3_uc001vuj.2_Missense_Mutation_p.E244K	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	627	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGGATGTTCTCGATGGGAATG	0.622		NaN											0	0	0	1	0	5	47				
TMEM55B	90809	broad.mit.edu	37	14	20928361	20928361	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:20928361G>T	uc001vxl.2	-	3	583	c.430C>A	c.(430-432)CGG>AGG	p.R144R	TMEM55B_uc001vxk.2_Silent_p.R151R	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 2	144						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	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)		CAGTAGGGCCGAGGGCATGCA	0.488		NaN											1	0	4.26978e-12	1	4.79067e-12	23	32				
METTL3	56339	broad.mit.edu	37	14	21979365	21979365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:21979365T>C	uc001wbc.2	-	1	93	c.1A>G	c.(1-3)ATG>GTG	p.M1V	METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.M1V|METTL3_uc001wbd.1_Missense_Mutation_p.M1V	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	1					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTCCGACATCCTAGTCTCC	0.632		NaN											0	0	0	1	0	5	12				
C14orf106	55320	broad.mit.edu	37	14	45693438	45693438	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:45693438C>T	uc001wwf.2	-	11	2811	c.2352G>A	c.(2350-2352)AGG>AGA	p.R784R		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	784					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTTCAGCTTTCCTTTTAATTT	0.358		NaN											0	0	0	1	0	34	48				
POLE2	5427	broad.mit.edu	37	14	50117145	50117145	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:50117145G>T	uc001wwu.2	-	17	1349	c.1335C>A	c.(1333-1335)ATC>ATA	p.I445I	SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.I159I|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.I160I	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	445					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			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTGGGATAAGATAGTCTTTA	0.358		NaN											1	0	2.35188e-11	1	2.62477e-11	19	55				
PSMC6	5706	broad.mit.edu	37	14	53178177	53178177	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:53178177G>A	uc010tqx.1	+	6	418	c.418G>A	c.(418-420)GAC>AAC	p.D140N	PSMC6_uc010tqw.1_Missense_Mutation_p.D106N	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	126					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					GTCTCATGAGGACCCTGGGAA	0.393		NaN											0	0	0	1	0	48	62				
C14orf135	64430	broad.mit.edu	37	14	60591695	60591695	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:60591695G>C	uc001xer.3	+	8	2626	c.2104G>C	c.(2104-2106)GAC>CAC	p.D702H	C14orf135_uc001xeq.2_Missense_Mutation_p.D702H|C14orf135_uc010apm.2_RNA	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	936						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATTTCCAGAAGACTGGTACCA	0.413		NaN											0	0	0	1	0	31	69				
C14orf50	145376	broad.mit.edu	37	14	65041219	65041219	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:65041219G>C	uc001xhl.1	+	8	676	c.580G>C	c.(580-582)GAA>CAA	p.E194Q		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	194										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		AAGTGAATTAGAAGCAGCACA	0.433		NaN											0	0	0	1	0	16	51				
SIPA1L1	26037	broad.mit.edu	37	14	72200447	72200447	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:72200447C>T	uc001xms.2	+	19	5337	c.4989C>T	c.(4987-4989)CCC>CCT	p.P1663P	SIPA1L1_uc001xmt.2_Silent_p.P1642P|SIPA1L1_uc001xmu.2_Silent_p.P1642P|SIPA1L1_uc001xmv.2_Silent_p.P1663P|SIPA1L1_uc010ttm.1_Silent_p.P1117P|SIPA1L1_uc001xmw.2_Silent_p.P428P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1663					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			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCCTATGCCCGACCCTGGCC	0.587		NaN											0	0	0	1	0	13	23				
RBM25	58517	broad.mit.edu	37	14	73581010	73581010	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73581010C>T	uc001xno.2	+	18	2616	c.2408C>T	c.(2407-2409)TCA>TTA	p.S803L	RBM25_uc010ttu.1_Missense_Mutation_p.S803L|RBM25_uc001xnp.2_Missense_Mutation_p.S598L	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	803	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GCTCATAGTTCACCCCAGAGC	0.219		NaN											0	0	0	1	0	42	71				
PAPLN	89932	broad.mit.edu	37	14	73712862	73712862	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:73712862C>T	uc010ttx.1	+	4	476	c.313C>T	c.(313-315)CGG>TGG	p.R105W	PAPLN_uc001xnw.3_Missense_Mutation_p.R105W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R105W|uc001xnx.2_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	105						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCGGCGGTATCGGTGGCTGCC	0.667		NaN											0	0	0	1	0	3	9				
ACOT2	10965	broad.mit.edu	37	14	74036029	74036029	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:74036029C>G	uc001xon.3	+	1	258	c.85C>G	c.(85-87)CGA>GGA	p.R29G	ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_5'UTR	NM_006821	NP_006812	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	29					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TGCTGTCCTTCGAGCGTCCCG	0.557		NaN											0	0	0	1	0	63	56				
DLST	1743	broad.mit.edu	37	14	75359643	75359643	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75359643G>C	uc001xqv.2	+	8	612	c.549G>C	c.(547-549)CAG>CAC	p.Q183H	DLST_uc001xqu.2_Missense_Mutation_p.Q95H|DLST_uc001xqt.2_Missense_Mutation_p.Q99H|DLST_uc010tuw.1_Missense_Mutation_p.Q97H|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.Q183H	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	183					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TACCCACTCAGATGCCACCGG	0.587		NaN											0	0	0	1	0	9	61				
EIF2B2	8892	broad.mit.edu	37	14	75470262	75470262	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75470262G>A	uc001xrc.1	+	3	375	c.293G>A	c.(292-294)GGA>GAA	p.G98E		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	98				RLHGRSD -> DSMDAAT (in Ref. 2; AAC42002).	cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGACTCCATGGACGCAGCGAC	0.537		NaN											0	0	0	1	0	44	49				
EIF2B2	8892	broad.mit.edu	37	14	75475859	75475859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:75475859G>A	uc001xrc.1	+	8	1106	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	342					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCTGATGAGTGAACTCTACCA	0.473		NaN											0	0	0	1	0	49	291				
FLVCR2	55640	broad.mit.edu	37	14	76045894	76045894	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:76045894C>T	uc001xrs.2	+	1	955	c.579C>T	c.(577-579)TTC>TTT	p.F193F		NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular	193	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity				0				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGGTTTTCATCCTGGGCA	0.602		NaN											0	0	0	1	0	54	63				
TMEM63C	57156	broad.mit.edu	37	14	77712285	77712285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:77712285C>G	uc001xtf.2	+	17	1663	c.1451C>G	c.(1450-1452)TCA>TGA	p.S484*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.S484*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	484						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTTCTAGATCAAGTCAGAAT	0.418		NaN											0	0	0	1	0	12	160				
FAM181A	90050	broad.mit.edu	37	14	94394796	94394796	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:94394796C>A	uc001ybz.1	+	3	658	c.351C>A	c.(349-351)CTC>CTA	p.L117L	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.L55L|FAM181A_uc001yca.1_Silent_p.L55L	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	117											0						ATTCCCGGCTCCCGCGGGGCC	0.647		NaN											1	0	1.3612e-06	1	1.44492e-06	16	19				
GSC	145258	broad.mit.edu	37	14	95234906	95234906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:95234906C>T	uc001ydu.2	-	3	843	c.696G>A	c.(694-696)TGG>TGA	p.W232*		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	232					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		ACGTCTTGTTCCACTTCTCCG	0.597		NaN											0	0	0	1	0	24	178				
ATG2B	55102	broad.mit.edu	37	14	96792138	96792138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96792138C>T	uc001yfi.2	-	15	2650	c.2285G>A	c.(2284-2286)CGA>CAA	p.R762Q		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	762										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGATCAGATCGAAGATCAGG	0.383		NaN											0	0	0	1	0	37	118				
ATG2B	55102	broad.mit.edu	37	14	96807901	96807901	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96807901C>T	uc001yfi.2	-	6	1247	c.882G>A	c.(880-882)TTG>TTA	p.L294L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	294										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACGTGAGACTCAACTCCAACC	0.388		NaN											0	0	0	1	0	83	84				
AK7	122481	broad.mit.edu	37	14	96944839	96944839	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:96944839G>A	uc001yfn.2	+	15	1637	c.1593G>A	c.(1591-1593)CTG>CTA	p.L531L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	531					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGAGTTTCTGAAGGAGCGTG	0.542		NaN											0	0	0	1	0	22	164				
PAPOLA	10914	broad.mit.edu	37	14	97009217	97009217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:97009217G>A	uc001yfq.2	+	14	1486	c.1276G>A	c.(1276-1278)GAA>AAA	p.E426K	PAPOLA_uc001yfr.2_Missense_Mutation_p.E426K|PAPOLA_uc010twv.1_Missense_Mutation_p.E426K|PAPOLA_uc010avp.2_Missense_Mutation_p.E176K	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	426					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCACCCAAAGAAAATCCCGA	0.358		NaN											0	0	0	1	0	23	194				
RTL1	388015	broad.mit.edu	37	14	101348170	101348170	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:101348170C>T	uc010txj.1	-	1	3015	c.2956G>A	c.(2956-2958)GAA>AAA	p.E986K	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	986										pancreas(1)	1						CCGTCTTGTTCTGGCAGCTCC	0.582		NaN											0	0	0	1	0	22	140				
XRCC3	7517	broad.mit.edu	37	14	104165273	104165273	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104165273G>T	uc001yny.3	-	10	1283	c.903C>A	c.(901-903)CTC>CTA	p.L301L	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L301L|XRCC3_uc001ynz.3_Silent_p.L301L|XRCC3_uc001yoa.3_Silent_p.L301L	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	301					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTTCCTCGCGGAGCCGGTCAG	0.657		NaN						Direct_reversal_of_damage|Homologous_recombination					1	0	4.68919e-08	1	5.05854e-08	11	12				
PPP1R13B	23368	broad.mit.edu	37	14	104201510	104201510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104201510C>T	uc001yof.1	-	17	3537	c.3254G>A	c.(3253-3255)CGA>CAA	p.R1085Q	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	1085					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGTTCGCTGTCGGGGTTTGAT	0.577		NaN											0	0	0	1	0	13	78				
TDRD9	122402	broad.mit.edu	37	14	104464977	104464977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:104464977G>C	uc001yom.3	+	13	1425	c.1395G>C	c.(1393-1395)TTG>TTC	p.L465F	TDRD9_uc001yon.3_Missense_Mutation_p.L203F	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	465	Helicase C-terminal.				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			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTTTTGTTTGACTAGAACTT	0.338		NaN											0	0	0	1	0	44	122				
MTA1	9112	broad.mit.edu	37	14	105927222	105927222	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr14:105927222G>C	uc001yqx.2	+	10	1061	c.874G>C	c.(874-876)GAG>CAG	p.E292Q	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E206Q|MTA1_uc001yra.1_Missense_Mutation_p.E206Q|MTA1_uc001yrb.2_Missense_Mutation_p.E53Q	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	292	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCTGCATCAGAGGCCAACCT	0.577		NaN											0	0	0	1	0	17	51				
FMN1	342184	broad.mit.edu	37	15	33359341	33359341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:33359341G>A	uc001zhf.3	-	1	745	c.745C>T	c.(745-747)CAG>TAG	p.Q249*	FMN1_uc001zhg.2_Nonsense_Mutation_p.Q249*	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		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)		CTCGAATTCTGGTTTGTTACT	0.507		NaN											0	0	0	1	0	37	80				
C15orf55	256646	broad.mit.edu	37	15	34649344	34649344	+	Silent	SNP	C	C	T	rs7163178		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:34649344C>T	uc001zif.2	+	7	3206	c.3051C>T	c.(3049-3051)CTC>CTT	p.L1017L	C15orf55_uc010ucc.1_Silent_p.L1045L|C15orf55_uc010ucd.1_Silent_p.L1035L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	1017						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ATGAGGAACTCTCCAACTTTG	0.502		NaN	T	BRD3|BRD4	lethal midline carcinoma								0	0	0	1	0	13	50				
CASC5	57082	broad.mit.edu	37	15	40913088	40913088	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:40913088C>T	uc010bbs.1	+	11	865	c.704C>T	c.(703-705)TCA>TTA	p.S235L	CASC5_uc010ucq.1_Missense_Mutation_p.S59L|CASC5_uc001zme.2_Missense_Mutation_p.S209L|CASC5_uc010bbt.1_Missense_Mutation_p.S209L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	235	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACACTTCTTCAGAAAATAAA	0.308		NaN											0	0	0	1	0	10	49				
FAM82A2	55177	broad.mit.edu	37	15	41044242	41044242	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:41044242C>A	uc001zmo.1	-	3	466	c.322G>T	c.(322-324)GTG>TTG	p.V108L	FAM82A2_uc001zmp.1_Missense_Mutation_p.V108L|FAM82A2_uc001zmq.1_Missense_Mutation_p.V108L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	108	Potential.				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						AGCTCCTCCACCTCCCGCCGC	0.632		NaN											1	0	3.09899e-07	1	3.31189e-07	7	81				
MGA	23269	broad.mit.edu	37	15	42046702	42046702	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046702C>T	uc010ucy.1	+	18	7257	c.7076C>T	c.(7075-7077)TCA>TTA	p.S2359L	MGA_uc010ucz.1_Missense_Mutation_p.S2150L|MGA_uc010uda.1_Missense_Mutation_p.S975L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2320	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		GAAGAGCTCTCAGAGGAAATT	0.383		NaN											0	0	0	1	0	3	5				
MGA	23269	broad.mit.edu	37	15	42046722	42046722	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42046722C>T	uc010ucy.1	+	18	7277	c.7096C>T	c.(7096-7098)CAC>TAC	p.H2366Y	MGA_uc010ucz.1_Missense_Mutation_p.H2157Y|MGA_uc010uda.1_Missense_Mutation_p.H982Y	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2327	Basic motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		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)		TAATGTTGCTCACCTGAAGAC	0.398		NaN											0	0	0	1	0	3	4				
SPTBN5	51332	broad.mit.edu	37	15	42185575	42185575	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:42185575C>T	uc001zos.2	-	2	349	c.16G>A	c.(16-18)GAG>AAG	p.E6K	uc010bcp.1_RNA	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	41	Actin-binding.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		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)		TGGCCCGTCTCGTACTGAGAG	0.622		NaN											0	0	0	1	0	7	31				
TP53BP1	7158	broad.mit.edu	37	15	43739643	43739643	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43739643G>A	uc001zrs.2	-	13	2890	c.2742C>T	c.(2740-2742)ATC>ATT	p.I914I	TP53BP1_uc010udp.1_Silent_p.I914I|TP53BP1_uc001zrq.3_Silent_p.I919I|TP53BP1_uc001zrr.3_Silent_p.I919I|TP53BP1_uc010udq.1_Silent_p.I919I	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	914					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATGGTGGGATGATATCACCTT	0.323		NaN						Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					0	0	0	1	0	32	59				
MAP1A	4130	broad.mit.edu	37	15	43814035	43814035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:43814035G>A	uc001zrt.2	+	4	831	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	122						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CAGTTACAGCGACTGGGTGAA	0.552		NaN											0	0	0	1	0	22	70				
EIF3J	8669	broad.mit.edu	37	15	44849735	44849735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44849735G>C	uc001ztv.2	+	6	585	c.458G>C	c.(457-459)AGA>ACA	p.R153T	EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Missense_Mutation_p.R104T	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	153						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CCATCTTCAAGAGATGACTTT	0.318		NaN											0	0	0	1	0	14	58				
SPG11	80208	broad.mit.edu	37	15	44900791	44900791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:44900791C>A	uc001ztx.2	-	19	3335	c.3304G>T	c.(3304-3306)GAA>TAA	p.E1102*	SPG11_uc010ueh.1_Nonsense_Mutation_p.E1102*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1102*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1102	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		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)		TCATTTTCTTCATTCTGAACA	0.373		NaN											1	0	0.184627	1	0.184921	5	28				
DUOX1	53905	broad.mit.edu	37	15	45424173	45424173	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:45424173C>T	uc001zus.1	+	3	355	c.9C>T	c.(7-9)TTC>TTT	p.F3F	DUOXA1_uc001zup.2_5'Flank|DUOXA1_uc010bec.2_5'Flank|DUOXA1_uc001zur.1_5'Flank|DUOXA1_uc010bed.1_5'Flank|DUOX1_uc001zut.1_Silent_p.F3F|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	3					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			ovary(5)|skin(2)|breast(1)	8		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)		TCATGGGCTTCTGCCTGGCTC	0.507		NaN											0	0	0	1	0	16	66				
FBN1	2200	broad.mit.edu	37	15	48720649	48720649	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48720649C>T	uc001zwx.1	-	57	7219	c.6891G>A	c.(6889-6891)ACG>ACA	p.T2297T	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2297	EGF-like 40; calcium-binding.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCCTGGCTTCGTCTGACATT	0.448		NaN											0	0	0	1	0	6	39				
FBN1	2200	broad.mit.edu	37	15	48791227	48791227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:48791227G>C	uc001zwx.1	-	18	2450	c.2122C>G	c.(2122-2124)CAG>GAG	p.Q708E		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	708	TB 3.				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			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGAGTGCCTGATATTCCGCT	0.453		NaN											0	0	0	1	0	22	105				
ONECUT1	3175	broad.mit.edu	37	15	53081808	53081808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:53081808C>A	uc002aci.1	-	1	402	c.274G>T	c.(274-276)GAG>TAG	p.E92*		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	92					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GGGGGAGTCTCGCAGGCCATG	0.657		NaN											1	0	3.09899e-07	1	3.31189e-07	9	12				
IGDCC4	57722	broad.mit.edu	37	15	65687479	65687479	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:65687479C>T	uc002aou.1	-	8	1739	c.1529G>A	c.(1528-1530)GGA>GAA	p.G510E	IGDCC4_uc002aot.1_Missense_Mutation_p.G98E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	510	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GCGGCTGGCTCCCAGCTGGGA	0.567		NaN											0	0	0	1	0	9	28				
ITGA11	22801	broad.mit.edu	37	15	68596209	68596209	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:68596209G>T	uc002ari.2	-	29	3483	c.3396C>A	c.(3394-3396)ATC>ATA	p.I1132I	ITGA11_uc010bib.2_Silent_p.I1133I	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1132	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CTTGCTTGGAGATCTCAAACA	0.637		NaN											1	0	5.50884e-06	1	5.79878e-06	12	49				
TLE3	7090	broad.mit.edu	37	15	70347433	70347433	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:70347433G>T	uc002asm.2	-	15	2661	c.1542C>A	c.(1540-1542)ATC>ATA	p.I514I	TLE3_uc002ask.2_Silent_p.I441I|TLE3_uc002asl.2_Silent_p.I514I|TLE3_uc010ukd.1_Silent_p.I504I|TLE3_uc010bik.1_Silent_p.I95I|TLE3_uc010bil.1_Silent_p.I511I|TLE3_uc002asn.2_Silent_p.I502I|TLE3_uc002asp.2_Silent_p.I506I|TLE3_uc002aso.2_Silent_p.I509I	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	514	WD 1.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						CTGGCTGGCTGATGTCCCAGA	0.632		NaN											1	0	0.00116845	1	0.00119403	6	17				
NEO1	4756	broad.mit.edu	37	15	73409170	73409170	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:73409170C>T	uc002avm.3	+	2	562	c.420C>T	c.(418-420)ATC>ATT	p.I140I	NEO1_uc010ukx.1_Silent_p.I140I|NEO1_uc010uky.1_Silent_p.I140I|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	140	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GAACTATTATCAGTAGAACAG	0.333		NaN											0	0	0	1	0	19	73				
UBL7	84993	broad.mit.edu	37	15	74749005	74749005	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74749005G>T	uc002axw.1	-	3	354	c.192C>A	c.(190-192)ATC>ATA	p.I64I	UBL7_uc002axx.1_Silent_p.I104I|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Silent_p.I64I|UBL7_uc002axz.1_Silent_p.I64I	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	64	Ubiquitin-like.						protein binding			ovary(1)	1						GACCACAGTAGATCAGATCTA	0.418		NaN											1	0	0.000151284	1	0.000156888	12	87				
UBL7	84993	broad.mit.edu	37	15	74751198	74751198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:74751198G>A	uc002axw.1	-	2	173	c.11C>T	c.(10-12)TCA>TTA	p.S4L	UBL7_uc002axx.1_Missense_Mutation_p.S44L|UBL7_uc010bjr.1_Intron|UBL7_uc002axy.1_Missense_Mutation_p.S4L|UBL7_uc002axz.1_Missense_Mutation_p.S4L|uc002aya.2_5'Flank|uc002ayb.2_5'Flank	NM_032907	NP_116296	Q96S82	UBL7_HUMAN	ubiquitin-like 7	4							protein binding			ovary(1)	1						GTGCCAGTCTGAGAGAGACAT	0.527		NaN											0	0	0	1	0	23	106				
SCAPER	49855	broad.mit.edu	37	15	77057793	77057793	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:77057793G>A	uc002bby.2	-	12	1557	c.1498C>T	c.(1498-1500)CGT>TGT	p.R500C	SCAPER_uc002bbx.2_Missense_Mutation_p.R254C|SCAPER_uc002bbz.1_Missense_Mutation_p.R371C|SCAPER_uc002bca.1_Missense_Mutation_p.R365C|SCAPER_uc002bcb.1_Missense_Mutation_p.R506C|SCAPER_uc002bcc.1_Missense_Mutation_p.R500C	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	499	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3						CAAGACTCACGAGCTGTTCAG	0.393		NaN											0	0	0	1	0	16	34				
SH2D7	646892	broad.mit.edu	37	15	78386496	78386496	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:78386496C>T	uc010blb.1	+	2	219	c.219C>T	c.(217-219)TTC>TTT	p.F73F		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	73	SH2.										0						TTGGTTCCTTCCTTATCCGCC	0.567		NaN											0	0	0	1	0	3	10				
FAH	2184	broad.mit.edu	37	15	80465456	80465456	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:80465456C>T	uc002bfj.2	+	10	889	c.807C>T	c.(805-807)CTC>CTT	p.L269L	FAH_uc002bfk.1_Silent_p.L269L|FAH_uc002bfm.1_Silent_p.L269L|FAH_uc002bfn.1_Silent_p.L199L	NM_000137	NP_000128	P16930	FAAA_HUMAN	fumarylacetoacetase	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding				0						TGGATGCTCTCATGCCCTTTG	0.577		NaN							Tyrosinemia_type_1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	37	87				
ALPK3	57538	broad.mit.edu	37	15	85400425	85400425	+	Missense_Mutation	SNP	G	G	A	rs116079740	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:85400425G>A	uc002ble.2	+	6	3229	c.3062G>A	c.(3061-3063)CGA>CAA	p.R1021Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1021					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGAGATGCCGAGGGCCACAG	0.647		NaN											0	0	0	1	0	5	46				
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89382250G>A	uc010upo.1	+	3	801	c.427G>A	c.(427-429)GAG>AAG	p.E143K	ACAN_uc002bmx.2_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	143					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622		NaN											0	0	0	1	0	22	95				
POLG	5428	broad.mit.edu	37	15	89867416	89867416	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:89867416C>A	uc002bns.3	-	11	2274	c.1992G>T	c.(1990-1992)GGG>GGT	p.G664G	POLG_uc002bnr.3_Silent_p.G664G	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	664					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTGCTGCTTCCCCTGTTCGA	0.502		NaN						DNA_polymerases_(catalytic_subunits)					1	0	0.000157383	1	0.00016281	8	52				
C15orf42	90381	broad.mit.edu	37	15	90127692	90127692	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:90127692C>G	uc002boe.2	+	3	1110	c.1110C>G	c.(1108-1110)AGC>AGG	p.S370R		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	370					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGAGGAGAGCACAGCAACTC	0.502		NaN											0	0	0	1	0	17	63				
UNC45A	55898	broad.mit.edu	37	15	91483662	91483662	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:91483662C>T	uc002bqg.2	+	6	986	c.646C>T	c.(646-648)CTG>TTG	p.L216L	UNC45A_uc002bqd.2_Silent_p.L201L|UNC45A_uc010uqo.1_Silent_p.L208L|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.L216L	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	216					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTGGCGGCTCTGCGTACGCT	0.532		NaN											0	0	0	1	0	16	59				
RGMA	56963	broad.mit.edu	37	15	93595352	93595352	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:93595352C>T	uc002bss.1	-	3	788	c.516G>A	c.(514-516)AGG>AGA	p.R172R	RGMA_uc002bsq.1_Silent_p.R156R|RGMA_uc010boi.1_Silent_p.R63R|RGMA_uc002bsr.1_Silent_p.R63R|RGMA_uc010urc.1_Silent_p.R180R	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	172					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGGTGAAAGTCCTGAGGTGTG	0.602		NaN											0	0	0	1	0	6	19				
SYNM	23336	broad.mit.edu	37	15	99672778	99672778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr15:99672778C>T	uc002bup.2	+	6	4333	c.4213C>T	c.(4213-4215)CGA>TGA	p.R1405*	SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1405	Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TAGGCACATTCGACTAGGTCC	0.517		NaN											0	0	0	1	0	49	172				
RHBDF1	64285	broad.mit.edu	37	16	109026	109026	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:109026C>T	uc002cfl.3	-	20	2242	c.2094G>A	c.(2092-2094)CTG>CTA	p.L698L		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	698	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACACCACTCAGCAGGTAGA	0.617		NaN											0	0	0	1	0	7	77				
RHBDF1	64285	broad.mit.edu	37	16	113674	113674	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:113674C>T	uc002cfl.3	-	7	521	c.373G>A	c.(373-375)GAC>AAC	p.D125N	RHBDF1_uc010uty.1_Missense_Mutation_p.D148N|RHBDF1_uc010utz.1_Missense_Mutation_p.D125N|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	125	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGGGCAGGTCCAGCTCCCGG	0.647		NaN											0	0	0	1	0	15	45				
WDR24	84219	broad.mit.edu	37	16	735939	735939	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:735939G>C	uc002ciz.1	-	5	2263	c.1503C>G	c.(1501-1503)GAC>GAG	p.D501E	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	631										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CTTTGCTGCGGTCCAGCCGCG	0.642		NaN											0	0	0	1	0	16	118				
TELO2	9894	broad.mit.edu	37	16	1544331	1544331	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:1544331C>G	uc002cly.2	+	2	340	c.49C>G	c.(49-51)CAT>GAT	p.H17D	TELO2_uc010uvg.1_Missense_Mutation_p.H17D	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	17						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GGAAGCCATTCATGCCCTCTC	0.622		NaN									OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	61	120				
RPS2	6187	broad.mit.edu	37	16	2012818	2012818	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2012818G>A	uc002cnn.2	-	4	656	c.468C>T	c.(466-468)ATC>ATT	p.I156I	RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Intron|RPS2_uc002cnm.2_Intron|RPS2_uc002cno.2_Silent_p.I156I|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	ribosomal protein S2	156	S5 DRBM.				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				0						GCTTGGCCAGGATGATGGCCC	0.607		NaN											0	0	0	1	0	8	38				
NTHL1	4913	broad.mit.edu	37	16	2090035	2090035	+	Nonsense_Mutation	SNP	C	C	A	rs71716587		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2090035C>A	uc002col.1	-	6	848	c.829G>T	c.(829-831)GAG>TAG	p.E277*	NTHL1_uc002com.1_Nonsense_Mutation_p.E278*	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	277					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCATTGATCTCGTGCCACAGC	0.662		NaN						BER_DNA_glycosylases					1	0	1.16021e-09	1	1.28009e-09	28	71				
CASKIN1	57524	broad.mit.edu	37	16	2237188	2237188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2237188C>A	uc010bsg.1	-	8	846	c.814G>T	c.(814-816)GAG>TAG	p.E272*		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	272					signal transduction	cytoplasm				skin(2)	2						TGCTTGATCTCCCTGCTGGCC	0.667		NaN											1	0	1.5842e-08	1	1.72077e-08	14	53				
DNASE1L2	1775	broad.mit.edu	37	16	2286829	2286829	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2286829C>T	uc002cpo.2	+	1	406	c.12C>T	c.(10-12)CCC>CCT	p.P4P	DNASE1L2_uc002cpn.2_Silent_p.P4P|DNASE1L2_uc002cpp.2_Silent_p.P4P|DNASE1L2_uc002cpq.2_Silent_p.P4P	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2 precursor	4					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding				0						TGGGCGGGCCCCGGGCTCTGC	0.706		NaN											0	0	0	1	0	4	9				
SRRM2	23524	broad.mit.edu	37	16	2808485	2808485	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:2808485C>G	uc002crk.2	+	5	1079	c.530C>G	c.(529-531)TCT>TGT	p.S177C	SRRM2_uc002crj.1_Missense_Mutation_p.S81C|SRRM2_uc002crl.1_Missense_Mutation_p.S177C|SRRM2_uc010bsu.1_Missense_Mutation_p.S81C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	177	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GTTCGGGAGTCTAGCAGTTCT	0.363		NaN											0	0	0	1	0	22	188				
DNAJA3	9093	broad.mit.edu	37	16	4500496	4500496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4500496C>G	uc002cwk.2	+	10	1362	c.1337C>G	c.(1336-1338)TCT>TGT	p.S446C	DNAJA3_uc002cwl.2_Missense_Mutation_p.S446C|DNAJA3_uc010uxk.1_Missense_Mutation_p.S293C	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	446					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						CTCACCAGCTCTGGTAAGGAG	0.607		NaN											0	0	0	1	0	5	8				
PPL	5493	broad.mit.edu	37	16	4933533	4933533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:4933533G>C	uc002cyd.1	-	22	5213	c.5123C>G	c.(5122-5124)TCA>TGA	p.S1708*		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1708	Plectin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GTGTATCACTGAGGACTCCCC	0.557		NaN											0	0	0	1	0	20	57				
FAM18A	780776	broad.mit.edu	37	16	10911962	10911962	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:10911962G>A	uc010buo.1	-	2	358	c.87C>T	c.(85-87)ATC>ATT	p.I29I	FAM18A_uc010uyr.1_RNA|FAM18A_uc010uys.1_RNA|FAM18A_uc010uyt.1_RNA|FAM18A_uc010bun.2_RNA|FAM18A_uc010uyu.1_RNA|FAM18A_uc002dad.3_Intron|FAM18A_uc002daf.1_RNA	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	hypothetical protein LOC780776	29						integral to membrane					0						CAACACACCTGATCTTGGCTT	0.428		NaN											0	0	0	1	0	3	10				
CLEC16A	23274	broad.mit.edu	37	16	11145494	11145494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:11145494G>A	uc002dao.2	+	18	2221	c.1991G>A	c.(1990-1992)CGG>CAG	p.R664Q	CLEC16A_uc002dan.3_Missense_Mutation_p.R646Q	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	664										ovary(1)|central_nervous_system(1)	2						GAGAAGACCCGGCGGGTGAGT	0.602		NaN											0	0	0	1	0	17	83				
NOMO1	23420	broad.mit.edu	37	16	14958467	14958467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:14958467G>C	uc002dcv.2	+	13	1487	c.1421G>C	c.(1420-1422)AGA>ACA	p.R474T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	474	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						GCAGAAACCAGAGCAGGGCTG	0.532		NaN											0	0	0	1	0	74	212				
ABCC1	4363	broad.mit.edu	37	16	16103752	16103752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:16103752C>G	uc010bvi.2	+	3	520	c.345C>G	c.(343-345)ATC>ATG	p.I115M	ABCC1_uc010bvj.2_Missense_Mutation_p.I115M|ABCC1_uc010bvk.2_Missense_Mutation_p.I115M|ABCC1_uc010bvl.2_Missense_Mutation_p.I115M|ABCC1_uc010bvm.2_Missense_Mutation_p.I115M|ABCC1_uc002del.3_Translation_Start_Site	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	115	Helical; Name=3.				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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTTGGGCATCACCATGGTAA	0.507		NaN											0	0	0	1	0	19	75				
DNAH3	55567	broad.mit.edu	37	16	20976008	20976008	+	Missense_Mutation	SNP	G	G	C	rs61746919	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20976008G>C	uc010vbe.1	-	53	9198	c.9198C>G	c.(9196-9198)ATC>ATG	p.I3066M	DNAH3_uc010vbd.1_Missense_Mutation_p.I501M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3066	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		TGCCATTGTCGATGGAGAAGG	0.502		NaN											0	0	0	1	0	16	70				
DNAH3	55567	broad.mit.edu	37	16	20996973	20996973	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:20996973C>T	uc010vbe.1	-	48	7091	c.7091G>A	c.(7090-7092)GGA>GAA	p.G2364E	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GAAATAATCTCCAAAGAAGAG	0.433		NaN											0	0	0	1	0	42	112				
DNAH3	55567	broad.mit.edu	37	16	21115865	21115865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:21115865C>A	uc010vbe.1	-	16	2293	c.2293G>T	c.(2293-2295)GAA>TAA	p.E765*	DNAH3_uc002die.2_Nonsense_Mutation_p.E719*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	765	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAGATATCTTCAATCTGGTCT	0.478		NaN											1	0	6.68952e-21	1	7.69753e-21	48	117				
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:22291646G>A	uc002dki.2	+	17	2502	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	673					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			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637		NaN											0	0	0	1	0	9	44				
USP31	57478	broad.mit.edu	37	16	23119406	23119406	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23119406G>C	uc002dll.2	-	2	732	c.732C>G	c.(730-732)CTC>CTG	p.L244L		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CTGAATGGTTGAGGTCTTCAT	0.512		NaN											0	0	0	1	0	20	46				
UBFD1	56061	broad.mit.edu	37	16	23581875	23581875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:23581875C>G	uc002dlv.2	+	7	1096	c.894C>G	c.(892-894)ATC>ATG	p.I298M		NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	298											0				GBM - Glioblastoma multiforme(48;0.0331)		TGGATGCAATCAAAGACACTG	0.512		NaN											0	0	0	1	0	20	120				
RBBP6	5930	broad.mit.edu	37	16	24566966	24566966	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:24566966G>A	uc002dmh.2	+	5	1419	c.379G>A	c.(379-381)GAA>AAA	p.E127K	RBBP6_uc010vcb.1_5'UTR|RBBP6_uc002dmi.2_Missense_Mutation_p.E127K|RBBP6_uc010bxr.2_Missense_Mutation_p.E127K|RBBP6_uc002dmk.2_5'UTR	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	127					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			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		CAATGCTTCTGAAGAAGATAA	0.363		NaN											0	0	0	1	0	21	120				
ZKSCAN2	342357	broad.mit.edu	37	16	25251684	25251684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:25251684C>T	uc002dod.3	-	7	2764	c.2357G>A	c.(2356-2358)AGA>AAA	p.R786K	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R582K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	786	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GCTCCTGCTTCTACCAAAGCA	0.453		NaN											0	0	0	1	0	15	68				
IL21R	50615	broad.mit.edu	37	16	27456503	27456503	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:27456503A>G	uc002doq.1	+	7	924	c.691A>G	c.(691-693)AAG>GAG	p.K231E	IL21R_uc002dor.1_Missense_Mutation_p.K231E|IL21R_uc002dos.1_Missense_Mutation_p.K231E	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	231	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						CCCAGAGTTAAAGGAAGGCTG	0.532		NaN	T	BCL6	NHL								0	0	0	1	0	11	31				
SBK1	388228	broad.mit.edu	37	16	28331409	28331409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:28331409G>T	uc002dpd.2	+	4	1231	c.442G>T	c.(442-444)GAG>TAG	p.E148*		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	148	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GGGGCTCCCTGAGGACACGGT	0.711		NaN											1	0	0.184627	1	0.184921	4	12				
MVP	9961	broad.mit.edu	37	16	29852916	29852916	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:29852916G>A	uc002dui.2	+	9	1276	c.1192_splice	c.e9-1	p.V398_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_Splice_Site|MVP_uc002duj.2_Splice_Site_p.V398_splice|MVP_uc010vea.1_Splice_Site	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein						mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CTCGTCCCAAGGTGCGCGCTG	0.637		NaN											0	0	0	1	0	9	28				
ALDOA	226	broad.mit.edu	37	16	30078815	30078815	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30078815G>A	uc002dvw.2	+	6	1285	c.157G>A	c.(157-159)GAG>AAG	p.E53K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.E53K|ALDOA_uc002dvy.2_Missense_Mutation_p.E53K|ALDOA_uc002dvz.2_Missense_Mutation_p.E53K|ALDOA_uc002dwa.3_Missense_Mutation_p.E53K|ALDOA_uc002dwb.1_Missense_Mutation_p.E53K|ALDOA_uc002dwc.2_Missense_Mutation_p.E53K|ALDOA_uc010veg.1_Missense_Mutation_p.E107K|ALDOA_uc002dwd.2_Missense_Mutation_p.E53K	NM_184043	NP_908932	P04075	ALDOA_HUMAN	fructose-bisphosphate aldolase A	53					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			lung(1)	1						CGAGAACACCGAGGAGAACCG	0.607		NaN											0	0	0	1	0	9	48				
ZNF688	146542	broad.mit.edu	37	16	30581606	30581606	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581606G>C	uc002dyt.2	-	3	1240	c.462C>G	c.(460-462)CCC>CCG	p.P154P	ZNF688_uc002dys.2_Silent_p.P140P|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGCATTTTTGGGTGGCTGTG	0.647		NaN											0	0	0	1	0	9	29				
ZNF688	146542	broad.mit.edu	37	16	30581750	30581750	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30581750G>T	uc002dyt.2	-	3	1096	c.318C>A	c.(316-318)GTC>GTA	p.V106V	ZNF688_uc002dys.2_Silent_p.V92V|uc002dyu.2_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	zinc finger protein 688 isoform a	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCTGTTTGGGACATCTCCTG	0.488		NaN											1	0	6.53275e-17	1	7.46262e-17	13	57				
SRCAP	10847	broad.mit.edu	37	16	30732788	30732788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30732788C>T	uc002dze.1	+	21	3917	c.3532C>T	c.(3532-3534)CGC>TGC	p.R1178C	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R1035C|SRCAP_uc010bzz.1_Missense_Mutation_p.R748C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1178	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			TATGCAGGCTCGCCTGCCCTG	0.552		NaN											0	0	0	1	0	8	51		Valid		
ZNF629	23361	broad.mit.edu	37	16	30795476	30795476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30795476G>C	uc002dzs.1	-	3	381	c.173C>G	c.(172-174)TCA>TGA	p.S58*		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CATCTCTGTTGAGTCCTTGGA	0.597		NaN											0	0	0	1	0	4	15				
FBXL19	54620	broad.mit.edu	37	16	30953717	30953717	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:30953717C>G	uc002eab.2	+	9	1705	c.1547C>G	c.(1546-1548)TCT>TGT	p.S516C	FBXL19_uc002dzz.1_Missense_Mutation_p.S204C|FBXL19_uc002eaa.1_Missense_Mutation_p.S415C	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	516	LRR 1.						DNA binding|zinc ion binding	p.E516K(1)		ovary(2)|lung(1)|breast(1)	4						CTGGTGCTCTCTGGCTGCTCC	0.662		NaN									OREG0023741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	3	16				
TRIM72	493829	broad.mit.edu	37	16	31235662	31235662	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:31235662C>G	uc002ebn.1	+	7	1249	c.1020C>G	c.(1018-1020)CTC>CTG	p.L340L	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	340	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						ACCAGCAGCTCTCCGAGGGCG	0.622		NaN											0	0	0	1	0	5	11				
LONP2	83752	broad.mit.edu	37	16	48286111	48286111	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:48286111G>A	uc002efi.1	+	2	392	c.303G>A	c.(301-303)TTG>TTA	p.L101L	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Silent_p.L101L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	101	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						ACACTCTGTTGATTACAGGCC	0.488		NaN											0	0	0	1	0	7	54				
CHD9	80205	broad.mit.edu	37	16	53288467	53288467	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:53288467G>A	uc002ehb.2	+	17	4143	c.3979G>A	c.(3979-3981)GAT>AAT	p.D1327N	CHD9_uc002egy.2_Missense_Mutation_p.D1327N|CHD9_uc002ehc.2_Missense_Mutation_p.D1327N|CHD9_uc002ehf.2_Missense_Mutation_p.D441N|CHD9_uc002ehd.2_Missense_Mutation_p.D853N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1327	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACTGGGCCTAGATAAAGCTGT	0.388		NaN											0	0	0	1	0	34	258				
GPR114	221188	broad.mit.edu	37	16	57608778	57608778	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57608778C>T	uc002elx.3	+	11	1345	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G	GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	420	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TGGGCTACGGCGGCCTCACGT	0.701		NaN											0	0	0	1	0	8	57				
KATNB1	10300	broad.mit.edu	37	16	57787356	57787356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:57787356G>A	uc002eml.1	+	12	1476	c.1102G>A	c.(1102-1104)GAC>AAC	p.D368N		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	368	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GGATGACCGGGACGAGCGCGA	0.667		NaN											0	0	0	1	0	21	42				
CNOT1	23019	broad.mit.edu	37	16	58592477	58592477	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58592477G>C	uc002env.2	-	18	2525	c.2232C>G	c.(2230-2232)TTC>TTG	p.F744L	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F744L|CNOT1_uc002enx.2_Missense_Mutation_p.F744L|CNOT1_uc002enz.1_Missense_Mutation_p.F173L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	744					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAGGGGTACTGAATGCAGAAC	0.493		NaN											0	0	0	1	0	10	54				
CNOT1	23019	broad.mit.edu	37	16	58608559	58608559	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608559G>T	uc002env.2	-	16	2226	c.1933C>A	c.(1933-1935)CCA>ACA	p.P645T	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P645T|CNOT1_uc002enx.2_Missense_Mutation_p.P645T|CNOT1_uc002enz.1_Missense_Mutation_p.P74T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	645					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGTTTCTGGAGGAAGTTGA	0.408		NaN											1	0	2.32078e-09	1	2.5472e-09	15	115				
CNOT1	23019	broad.mit.edu	37	16	58608568	58608568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:58608568G>C	uc002env.2	-	16	2217	c.1924C>G	c.(1924-1926)CAA>GAA	p.Q642E	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.Q642E|CNOT1_uc002enx.2_Missense_Mutation_p.Q642E|CNOT1_uc002enz.1_Missense_Mutation_p.Q71E	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	642					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGAGGAAGTTGAGCACTTTTG	0.433		NaN											0	0	0	1	0	14	108				
TRADD	8717	broad.mit.edu	37	16	67190499	67190499	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67190499G>A	uc002eri.1	-	2	145	c.65C>T	c.(64-66)TCG>TTG	p.S22L	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Missense_Mutation_p.S22L	NM_003789	NP_003780	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	22					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			lung(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTTGTCCAGCGAGGACTCCAC	0.617		NaN									OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	22	136				
HSF4	3299	broad.mit.edu	37	16	67201421	67201421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67201421G>A	uc002erl.1	+	10	1738	c.773G>A	c.(772-774)AGG>AAG	p.R258K	HSF4_uc002erm.1_Missense_Mutation_p.G263R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	258	Interactions with DUSP26, MAPK1 and MAPK2.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CACAGGGCCAGGGGCCCCATC	0.607		NaN											0	0	0	1	0	38	98				
FHOD1	29109	broad.mit.edu	37	16	67265987	67265987	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67265987A>C	uc002esl.2	-	14	2269	c.2157T>G	c.(2155-2157)GCT>GCG	p.A719A	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A526A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	719	Interaction with ROCK1.|FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGTTGAGCAGAGCAGCCTTAA	0.567		NaN											0	0	0	1	0	4	49				
KCTD19	146212	broad.mit.edu	37	16	67327463	67327463	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67327463C>T	uc002esu.2	-	12	2253	c.2202G>A	c.(2200-2202)CAG>CAA	p.Q734Q	KCTD19_uc002est.2_Silent_p.Q506Q|KCTD19_uc010vjj.1_Silent_p.Q477Q	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	734						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGTCCTCTGCTTGCTCC	0.423		NaN											0	0	0	1	0	36	113				
CTCF	10664	broad.mit.edu	37	16	67671650	67671650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:67671650G>T	uc002etl.2	+	12	2349	c.2059G>T	c.(2059-2061)GAA>TAA	p.E687*	CTCF_uc010cek.2_Nonsense_Mutation_p.E359*|CTCF_uc002etm.1_Nonsense_Mutation_p.E174*	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	687					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			ovary(1)	1		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)		CATTATAGTTGAAGTAAAAAA	0.498		NaN											1	0	1.26484e-09	1	1.39432e-09	8	66				
HAS3	3038	broad.mit.edu	37	16	69143703	69143703	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143703C>T	uc010cfh.2	+	2	629	c.405C>T	c.(403-405)ATC>ATT	p.I135I	HAS3_uc002ewk.2_Silent_p.I135I|HAS3_uc010vlk.1_Silent_p.I135I|HAS3_uc002ewl.2_Silent_p.I135I	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	135	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCTGGACATCTTCCACGAGG	0.652		NaN											0	0	0	1	0	22	48				
HAS3	3038	broad.mit.edu	37	16	69143910	69143910	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69143910C>G	uc010cfh.2	+	2	836	c.612C>G	c.(610-612)CTC>CTG	p.L204L	HAS3_uc002ewk.2_Silent_p.L204L|HAS3_uc010vlk.1_Silent_p.L204L|HAS3_uc002ewl.2_Silent_p.L204L	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	204	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCAAGGCCCTCGGCGATTCGG	0.602		NaN											0	0	0	1	0	16	27				
VPS4A	27183	broad.mit.edu	37	16	69354143	69354143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:69354143G>C	uc002eww.2	+	7	848	c.720G>C	c.(718-720)GAG>GAC	p.E240D		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	240					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				ATGAAAATGAGAGTGAGGCCG	0.582		NaN											0	0	0	1	0	9	33				
DDX19B	11269	broad.mit.edu	37	16	70363869	70363869	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70363869C>T	uc002eyo.2	+	9	1050	c.921C>T	c.(919-921)ATC>ATT	p.I307I	DDX19B_uc010vly.1_Silent_p.I307I|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.I281I|DDX19B_uc010vlw.1_Silent_p.I198I|DDX19B_uc002eyp.2_Silent_p.I276I|DDX19B_uc002eyq.2_Silent_p.I198I|DDX19B_uc002eyr.2_Silent_p.I156I|DDX19B_uc010vlx.1_Silent_p.I156I|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	307	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				TGGACACCATCAAGCAGTACT	0.527		NaN											0	0	0	1	0	29	162				
HYDIN	54768	broad.mit.edu	37	16	70843817	70843817	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843817C>T	uc002ezr.2	-	85	14877	c.14749G>A	c.(14749-14751)GAG>AAG	p.E4917K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4918										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGATAGAGCTCATATTGGTAG	0.468		NaN											0	0	0	1	0	131	352				
HYDIN	54768	broad.mit.edu	37	16	70843871	70843871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:70843871C>T	uc002ezr.2	-	85	14823	c.14695G>A	c.(14695-14697)GAA>AAA	p.E4899K	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4900										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCGAAGGTTTCTCCAGCTTTC	0.473		NaN											0	0	0	1	0	118	287				
PHLPP2	23035	broad.mit.edu	37	16	71748679	71748679	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:71748679C>A	uc002fax.2	-	1	26	c.20G>T	c.(19-21)AGA>ATA	p.R7I	PHLPP2_uc010cgf.2_Missense_Mutation_p.R7I|PHLPP2_uc002fay.1_Missense_Mutation_p.R7I	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	7						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CAAACAATTTCTGCTCCCATT	0.393		NaN											1	0	2.39556e-15	1	2.72666e-15	21	40				
PMFBP1	83449	broad.mit.edu	37	16	72174473	72174473	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:72174473C>T	uc002fcc.3	-	6	817	c.645G>A	c.(643-645)GAG>GAA	p.E215E	PMFBP1_uc002fcd.2_Silent_p.E215E|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.E70E	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	215										ovary(2)	2		Ovarian(137;0.179)				CACCCTTGTTCTCAGGCTCCT	0.388		NaN											0	0	0	1	0	28	141				
KCNG4	93107	broad.mit.edu	37	16	84270993	84270993	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:84270993C>T	uc010voc.1	-	2	220	c.99G>A	c.(97-99)ACG>ACA	p.T33T	KCNG4_uc002fhu.1_Silent_p.T33T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	33	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TGATGGACGGCGTCTCCATGG	0.627		NaN											0	0	0	1	0	11	54				
KIAA0182	23199	broad.mit.edu	37	16	85691040	85691040	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:85691040C>A	uc002fix.2	+	8	1544	c.1470C>A	c.(1468-1470)CGC>CGA	p.R490R	KIAA0182_uc002fiw.2_Silent_p.R386R|KIAA0182_uc002fiy.2_Silent_p.R417R	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	490							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						TGATCCAGCGCACCAATGAGG	0.662		NaN											1	0	0.184627	1	0.184921	5	35				
ANKRD11	29123	broad.mit.edu	37	16	89346347	89346347	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89346347T>C	uc002fmx.1	-	9	7064	c.6603A>G	c.(6601-6603)GCA>GCG	p.A2201A	ANKRD11_uc002fmy.1_Silent_p.A2201A|ANKRD11_uc002fnc.1_Silent_p.A2201A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.A2158A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2201	Pro-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		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)		GCTCGAGCTCTGCAGGGAGCC	0.687		NaN											0	0	0	1	0	4	19				
ZNF276	92822	broad.mit.edu	37	16	89789204	89789204	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89789204C>T	uc002fos.3	+	2	568	c.471C>T	c.(469-471)GTC>GTT	p.V157V	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.V82V|ZNF276_uc002foq.3_Silent_p.V82V|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGCAGAGGGTCAACGCCTCCC	0.597		NaN											0	0	0	1	0	16	92				
SPIRE2	84501	broad.mit.edu	37	16	89922055	89922055	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:89922055C>T	uc002foz.1	+	6	991	c.939C>T	c.(937-939)CTC>CTT	p.L313L	SPIRE2_uc010civ.1_Silent_p.L228L|SPIRE2_uc010ciw.1_Silent_p.L313L|SPIRE2_uc002fpa.1_Silent_p.L265L|SPIRE2_uc010cix.1_Silent_p.L180L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	313					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CTCACGAGCTCATCCTGGACT	0.667		NaN											0	0	0	1	0	17	39				
TUBB3	10381	broad.mit.edu	37	16	90001759	90001759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90001759G>A	uc002fph.1	+	4	965	c.900G>A	c.(898-900)ATG>ATA	p.M300I	TUBB3_uc002fpf.2_Missense_Mutation_p.M647I|TUBB3_uc010ciz.1_Missense_Mutation_p.M228I|TUBB3_uc002fpg.1_Missense_Mutation_p.M154I|TUBB3_uc002fpi.1_Missense_Mutation_p.M228I|TUBB3_uc002fpj.1_Missense_Mutation_p.M228I|TUBB3_uc010cjb.1_Missense_Mutation_p.M154I|TUBB3_uc002fpk.1_Missense_Mutation_p.M154I	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	300					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		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)		AGAACATGATGGCCGCCTGCG	0.692		NaN											0	0	0	1	0	38	119				
PRDM7	11105	broad.mit.edu	37	16	90142264	90142264	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr16:90142264C>T	uc010cje.2	-	1	75	c.55G>A	c.(55-57)GAG>AAG	p.E19K	PRDM7_uc010cjf.2_5'UTR|PRDM7_uc010cjh.1_RNA	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	19						chromosome|nucleus	nucleic acid binding			ovary(1)	1		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)		GGCTTCCGCTCTGTTCTCTCT	0.592		NaN											0	0	0	1	0	8	27				
TUSC5	286753	broad.mit.edu	37	17	1183494	1183494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1183494G>C	uc002fsi.1	+	1	538	c.199G>C	c.(199-201)GAG>CAG	p.E67Q		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	67					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCATCTCCGAGGGGCACCT	0.632		NaN											0	0	0	1	0	16	43				
MYO1C	4641	broad.mit.edu	37	17	1374391	1374391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:1374391G>A	uc002fsp.2	-	21	2406	c.2186C>T	c.(2185-2187)GCC>GTC	p.A729V	MYO1C_uc002fsn.2_Missense_Mutation_p.A710V|MYO1C_uc002fso.2_Missense_Mutation_p.A694V|MYO1C_uc010vqj.1_Missense_Mutation_p.A694V|MYO1C_uc010vqk.1_Missense_Mutation_p.A705V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	729					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACCTCCAGGGCATCCTCTGT	0.632		NaN											0	0	0	1	0	12	32				
ALOX15	246	broad.mit.edu	37	17	4535233	4535233	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:4535233G>C	uc002fyh.2	-	13	1774	c.1760C>G	c.(1759-1761)TCT>TGT	p.S587C	ALOX15_uc010vsd.1_Missense_Mutation_p.S548C|ALOX15_uc010vse.1_Missense_Mutation_p.S609C	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	587	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CATCTGGAGAGAAGCCTGGTG	0.622		NaN											0	0	0	1	0	8	50				
NUP88	4927	broad.mit.edu	37	17	5289552	5289552	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5289552C>T	uc002gbo.1	-	17	2226	c.2200G>A	c.(2200-2202)GAT>AAT	p.D734N	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.D750N	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	734					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						TTGCGGATATCATTGATTTGC	0.363		NaN											0	0	0	1	0	18	110				
DHX33	56919	broad.mit.edu	37	17	5347829	5347829	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:5347829G>C	uc002gca.2	-	12	1822	c.1820C>G	c.(1819-1821)TCA>TGA	p.S607*	DHX33_uc002gbz.2_Nonsense_Mutation_p.S378*|DHX33_uc002gcb.2_Nonsense_Mutation_p.S434*|DHX33_uc010clf.2_Nonsense_Mutation_p.S383*	NM_020162	NP_064547	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	607						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|pancreas(1)	2						GATTGGCATTGACATCTGTTT	0.597		NaN											0	0	0	1	0	7	27				
ZBTB4	57659	broad.mit.edu	37	17	7365511	7365511	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7365511G>T	uc002ghc.3	-	4	3040	c.2790C>A	c.(2788-2790)CTC>CTA	p.L930L	ZBTB4_uc002ghd.3_Silent_p.L930L	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGGCGGCAAGGAGCTGGGGGC	0.627		NaN											1	0	3.73148e-12	1	4.19043e-12	30	128				
TNFSF12	8742	broad.mit.edu	37	17	7460637	7460637	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7460637C>A	uc002ghg.2	+	7	816	c.720C>A	c.(718-720)CTC>CTA	p.L240L	TNFSF12_uc002ghh.2_RNA|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_5'Flank|TNFSF13_uc002ghk.2_5'Flank|TNFSF13_uc002ghl.2_5'Flank|TNFSF13_uc010cmk.2_5'Flank|TNFSF13_uc010vua.1_5'Flank	NM_003809	NP_003800	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily,	240	Extracellular (Potential).				angiogenesis|apoptosis|cell differentiation|endothelial cell migration|immune response|induction of apoptosis|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|signal transduction	extracellular space|integral to plasma membrane|perinuclear region of cytoplasm	cytokine activity|tumor necrosis factor receptor binding				0		Prostate(122;0.157)				CCCCCTTCCTCACCTACTTCG	0.692		NaN											1	0	3.09899e-07	1	3.31189e-07	9	30				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:7577127C>T	uc002gim.2	-	8	1005	c.811G>A	c.(811-813)GAG>AAG	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	271	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ACACGCACCTCAAAGCTGTTC	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			0	0	0	1	0	17	17		Valid		
ZNF624	57547	broad.mit.edu	37	17	16552976	16552976	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:16552976C>G	uc010cpi.1	-	2	166	c.83G>C	c.(82-84)CGC>CCC	p.R28P		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTTACCAGGCGTCCAACTGA	0.468		NaN											0	0	0	1	0	4	28				
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:17942265A>C	uc002gse.1	-	1	216	c.63T>G	c.(61-63)GGT>GGG	p.G21G	C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Silent_p.G21G	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672		NaN											0	0	0	1	0	5	4				
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18025324G>C	uc010vxh.1	+	2	3548	c.3210G>C	c.(3208-3210)CAG>CAC	p.Q1070H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647		NaN											0	0	0	1	0	22	75				
FBXW10	10517	broad.mit.edu	37	17	18668067	18668067	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:18668067G>T	uc002guk.2	+	8	1678	c.1446G>T	c.(1444-1446)CTG>CTT	p.L482L	FBXW10_uc002guj.2_Silent_p.L482L|FBXW10_uc002gul.2_Silent_p.L511L|FBXW10_uc010cqh.1_Silent_p.L482L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	482	WD 3.									ovary(1)	1						ACTGGGATCTGAAAAGTGGGG	0.483		NaN											1	0	2.23348e-06	1	2.36288e-06	15	40				
CYTSB	92521	broad.mit.edu	37	17	20130924	20130924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:20130924G>C	uc002gwq.2	+	5	2207	c.2062G>C	c.(2062-2064)GAG>CAG	p.E688Q	CYTSB_uc010cqx.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwr.2_Missense_Mutation_p.E688Q|CYTSB_uc002gws.2_Missense_Mutation_p.E688Q|CYTSB_uc002gwv.2_Missense_Mutation_p.E607Q|CYTSB_uc010vzf.1_Missense_Mutation_p.E28Q|CYTSB_uc002gww.2_Missense_Mutation_p.E464Q|CYTSB_uc002gwt.2_Missense_Mutation_p.E607Q|CYTSB_uc002gwu.2_Missense_Mutation_p.E607Q	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	688	Potential.					nucleus					0						ACTCATCAGTGAGCTAGAAAG	0.254		NaN											0	0	0	1	0	11	41				
SLC13A2	9058	broad.mit.edu	37	17	26818799	26818799	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26818799C>T	uc002hbh.2	+	6	874	c.807C>T	c.(805-807)TTC>TTT	p.F269F	SLC13A2_uc010wal.1_Silent_p.F226F|SLC13A2_uc010wam.1_Silent_p.F225F|SLC13A2_uc010wan.1_Silent_p.F318F|SLC13A2_uc010wao.1_Silent_p.F226F|SLC13A2_uc002hbi.2_Silent_p.F198F	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	269						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGTTCAGCTTCGCCTTCCCCA	0.582		NaN											0	0	0	1	0	9	77				
PIGS	94005	broad.mit.edu	37	17	26890912	26890912	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26890912G>C	uc002hbo.2	-	4	673	c.300C>G	c.(298-300)ATC>ATG	p.I100M	PIGS_uc002hbn.2_Missense_Mutation_p.I92M|PIGS_uc010wap.1_Missense_Mutation_p.I39M	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	100	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)					AACGGCATTTGATTTTCATTT	0.522		NaN											0	0	0	1	0	17	110				
KIAA0100	9703	broad.mit.edu	37	17	26951382	26951382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:26951382C>T	uc002hbu.2	-	25	4720	c.4621G>A	c.(4621-4623)GAA>AAA	p.E1541K	KIAA0100_uc002hbt.2_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1541						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TCTGTCTCTTCAATTAGCTTC	0.463		NaN											0	0	0	1	0	14	59				
TLCD1	116238	broad.mit.edu	37	17	27051561	27051561	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27051561C>A	uc002hco.2	-	4	826	c.711G>T	c.(709-711)AAG>AAT	p.K237N	TLCD1_uc010waw.1_Missense_Mutation_p.K190N	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	237						integral to membrane					0	Lung NSC(42;0.00431)					TGTGTTGCTTCTTGGGGACAT	0.522		NaN											1	0	3.90053e-15	1	4.43562e-15	30	202				
TLCD1	116238	broad.mit.edu	37	17	27052547	27052547	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27052547C>G	uc002hco.2	-	2	344	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	TLCD1_uc010waw.1_Missense_Mutation_p.E30Q	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	TLC domain containing 1 isoform 1	77	TLC.|Helical; (Potential).					integral to membrane					0	Lung NSC(42;0.00431)					CACGCCGTCTCAATCTCCACT	0.542		NaN											0	0	0	1	0	24	110				
PIPOX	51268	broad.mit.edu	37	17	27382234	27382234	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27382234T>C	uc002hdr.1	+	6	1287	c.961T>C	c.(961-963)TAC>CAC	p.Y321H		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	321					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GAGCTGCATGTACACGGTAAG	0.567		NaN											0	0	0	1	0	30	133				
CORO6	84940	broad.mit.edu	37	17	27943318	27943318	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:27943318G>A	uc002hel.2	-	8	1043	c.1041C>T	c.(1039-1041)ATC>ATT	p.I347I	CORO6_uc002hem.2_Silent_p.I113I|CORO6_uc002hen.2_Silent_p.I113I	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	347					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						CAGTCATGATGATAGGTTCAC	0.572		NaN											0	0	0	1	0	3	17				
CCL13	6357	broad.mit.edu	37	17	32685093	32685093	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32685093G>C	uc002hic.2	+	3	315	c.240G>C	c.(238-240)AAG>AAC	p.K80N		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	80					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)				CAAAGGAGAAGTGGGTCCAGA	0.493		NaN											0	0	0	1	0	19	33				
TMEM132E	124842	broad.mit.edu	37	17	32964869	32964869	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:32964869G>T	uc002hif.2	+	10	2901	c.2573G>T	c.(2572-2574)GGA>GTA	p.G858V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	858	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGGTGCAAGGAGAGCTGTCG	0.697		NaN											1	0	9.04072e-19	1	1.03463e-18	37	30				
UNC45B	146862	broad.mit.edu	37	17	33501356	33501356	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33501356C>G	uc002hja.2	+	14	2029	c.1932C>G	c.(1930-1932)ATC>ATG	p.I644M	UNC45B_uc002hjb.2_Missense_Mutation_p.I642M|UNC45B_uc002hjc.2_Missense_Mutation_p.I642M|UNC45B_uc010cto.2_Missense_Mutation_p.I563M	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	644					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				ATAGTGCCATCCTCACTGACC	0.597		NaN											0	0	0	1	0	12	82				
AP2B1	163	broad.mit.edu	37	17	33953812	33953812	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:33953812G>A	uc002hjr.2	+	7	1078	c.889G>A	c.(889-891)GAA>AAA	p.E297K	AP2B1_uc002hjq.2_Missense_Mutation_p.E297K|AP2B1_uc010wci.1_Missense_Mutation_p.E259K|AP2B1_uc002hjs.2_Missense_Mutation_p.E240K|AP2B1_uc002hjt.2_Missense_Mutation_p.E297K|AP2B1_uc010ctv.2_Missense_Mutation_p.E297K|AP2B1_uc010wcj.1_Missense_Mutation_p.E34K	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	297					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGGGGAGCCAGAAGTGCAGTA	0.408		NaN											0	0	0	1	0	38	226				
CCL16	6360	broad.mit.edu	37	17	34308454	34308454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34308454C>T	uc002hkl.2	-	1	70	c.3G>A	c.(1-3)ATG>ATA	p.M1I	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	1					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGAGACCTTCATCCTCTCAG	0.547		NaN											0	0	0	1	0	3	13				
GGNBP2	79893	broad.mit.edu	37	17	34923593	34923593	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:34923593G>C	uc002hnb.2	+	6	868	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	GGNBP2_uc002hna.2_Missense_Mutation_p.E207Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	207					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAACACTAGAAACATATCT	0.418		NaN											0	0	0	1	0	16	61				
LHX1	3975	broad.mit.edu	37	17	35298106	35298106	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35298106C>T	uc002hnh.1	+	3	1593	c.597C>T	c.(595-597)TTC>TTT	p.F199F	LHX1_uc010cux.1_Silent_p.F107F	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	199	Homeobox.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				AGGCCGCCTTCGCTGCTACAC	0.677		NaN											0	0	0	1	0	7	17				
ACACA	31	broad.mit.edu	37	17	35634815	35634815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35634815C>T	uc002hnm.2	-	6	774	c.583G>A	c.(583-585)GAT>AAT	p.D195N	ACACA_uc002hnk.2_Missense_Mutation_p.D117N|ACACA_uc002hnl.2_Missense_Mutation_p.D137N|ACACA_uc002hnn.2_Missense_Mutation_p.D195N|ACACA_uc002hno.2_Missense_Mutation_p.D232N|ACACA_uc010cuz.2_Missense_Mutation_p.D195N|ACACA_uc002hnq.2_Missense_Mutation_p.D117N	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	195	Biotin carboxylation.				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			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTAGCAATATCAAGAATTAAT	0.383		NaN											0	0	0	1	0	7	48				
TADA2A	6871	broad.mit.edu	37	17	35804846	35804846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:35804846G>A	uc002hnt.2	+	8	737	c.580G>A	c.(580-582)GAA>AAA	p.E194K	TADA2A_uc002hnu.1_Missense_Mutation_p.E194K|TADA2A_uc002hnv.2_Missense_Mutation_p.E194K|TADA2A_uc010wdd.1_Missense_Mutation_p.E194K|TADA2A_uc002hnw.2_Missense_Mutation_p.E93K|TADA2A_uc010cvb.2_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	transcriptional adaptor 2A isoform a	194					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4						TGATTTTGTTGAAGATGACTC	0.269		NaN											0	0	0	1	0	38	218				
GPR179	440435	broad.mit.edu	37	17	36483085	36483085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:36483085G>A	uc002hpz.2	-	11	6388	c.6367C>T	c.(6367-6369)CCC>TCC	p.P2123S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2123	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCAGAGGGAGCCTCTACC	0.572		NaN											0	0	0	1	0	21	108				
CACNB1	782	broad.mit.edu	37	17	37347815	37347815	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:37347815G>C	uc002hrm.1	-	3	356	c.203C>G	c.(202-204)TCA>TGA	p.S68*	CACNB1_uc002hrl.1_Translation_Start_Site|CACNB1_uc002hrn.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hro.2_Nonsense_Mutation_p.S68*|CACNB1_uc002hrp.1_Nonsense_Mutation_p.S68*|CACNB1_uc010web.1_Nonsense_Mutation_p.S21*	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	68					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCAGAGTCTGATGGACGGCT	0.587		NaN											0	0	0	1	0	23	38				
TTC25	83538	broad.mit.edu	37	17	40117264	40117264	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40117264A>G	uc002hyj.3	+	11	1871	c.1782A>G	c.(1780-1782)GGA>GGG	p.G594G	TTC25_uc010cxt.2_RNA|CNP_uc002hyk.1_5'Flank|CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	594						cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAAGATCAGGAGAAACAGGCA	0.498		NaN											0	0	0	1	0	7	24				
TUBG2	27175	broad.mit.edu	37	17	40818472	40818472	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:40818472C>G	uc010wgr.1	+	10	1384	c.1128C>G	c.(1126-1128)CTC>CTG	p.L376L	TUBG2_uc002iaq.2_Silent_p.L218L|TUBG2_uc002iar.2_Silent_p.L223L|TUBG2_uc002ias.2_Silent_p.L218L|TUBG2_uc002iap.2_Silent_p.L223L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	376					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCAGCGGGCTCATGATGGCCA	0.587		NaN											0	0	0	1	0	14	121				
NBR1	4077	broad.mit.edu	37	17	41341649	41341649	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:41341649G>A	uc010czd.2	+	8	665	c.525G>A	c.(523-525)CAG>CAA	p.Q175Q	NBR1_uc010diz.2_Silent_p.Q175Q|NBR1_uc010whu.1_Silent_p.Q175Q|NBR1_uc010whv.1_Silent_p.Q175Q|NBR1_uc010whw.1_Silent_p.Q154Q|NBR1_uc010whx.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	175					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTTGAACAGAAATTACATG	0.393		NaN											0	0	0	1	0	19	116				
C17orf53	78995	broad.mit.edu	37	17	42239247	42239247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42239247G>C	uc002ifi.1	+	10	2076	c.1891G>C	c.(1891-1893)GAT>CAT	p.D631H	C17orf53_uc010czq.1_Missense_Mutation_p.D630H|C17orf53_uc002ifj.1_Missense_Mutation_p.W518C|C17orf53_uc002ifk.1_RNA	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	hypothetical protein LOC78995	631											0		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGATGACCTGGATGGACTCCT	0.547		NaN											0	0	0	1	0	18	98				
GFAP	2670	broad.mit.edu	37	17	42992744	42992744	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:42992744G>C	uc002ihq.2	-	1	171	c.111C>G	c.(109-111)CTC>CTG	p.L37L	GFAP_uc002ihr.2_Silent_p.L37L|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	37	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GAGCCAGGGAGAGGCGGGTGC	0.692		NaN											0	0	0	1	0	11	21				
MAP3K14	9020	broad.mit.edu	37	17	43345029	43345029	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43345029C>T	uc002iiw.1	-	13	2179	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	690					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						AAAGCTCTCTCGGCTGGGCAT	0.607		NaN											0	0	0	1	0	13	140				
MAP3K14	9020	broad.mit.edu	37	17	43348526	43348526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:43348526C>T	uc002iiw.1	-	11	1829	c.1720G>A	c.(1720-1722)GAC>AAC	p.D574N	MAP3K14_uc002iiu.1_Missense_Mutation_p.D104N|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.D158N	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	574	Interaction with ZFP91.|Protein kinase.				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						ACCTTGGCGTCGCAGCTCCTG	0.597		NaN									OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	6	37				
PRR15L	79170	broad.mit.edu	37	17	46030598	46030598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46030598C>T	uc002imp.2	-	2	120	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_024320	NP_077296	Q9BU68	PR15L_HUMAN	ATPase family, AAA domain containing 4	1										ovary(1)	1						TTTCAGTCGTCATGGCGCTCC	0.547		NaN											0	0	0	1	0	61	79				
ATP5G1	516	broad.mit.edu	37	17	46973041	46973041	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:46973041C>G	uc002iog.2	+	5	455	c.321C>G	c.(319-321)CTC>CTG	p.L107L	ATP5G1_uc002ioh.2_Silent_p.L107L	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	107					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0						AGCAGCAGCTCTTCTCCTATG	0.577		NaN											0	0	0	1	0	111	131				
NGFR	4804	broad.mit.edu	37	17	47583714	47583714	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:47583714G>C	uc002ioz.3	+	3	387	c.262G>C	c.(262-264)GAG>CAG	p.E88Q		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	88	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCGTGCACCGAGTGCGTGGG	0.672		NaN											0	0	0	1	0	7	46				
ACSF2	80221	broad.mit.edu	37	17	48540834	48540834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48540834C>G	uc002iqu.2	+	8	1071	c.967C>G	c.(967-969)CTG>GTG	p.L323V	ACSF2_uc010wml.1_Missense_Mutation_p.L280V|ACSF2_uc010wmm.1_Missense_Mutation_p.L348V|ACSF2_uc010wmn.1_Missense_Mutation_p.L310V|ACSF2_uc010wmo.1_Missense_Mutation_p.L163V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	323					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AATGATGTGTCTGATGTACGG	0.587		NaN											0	0	0	1	0	30	40				
MYCBPAP	84073	broad.mit.edu	37	17	48601143	48601143	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48601143G>A	uc010wmr.1	+	12	1924	c.1762G>A	c.(1762-1764)GAG>AAG	p.E588K	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	551					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAAAGTACTGGAGGTAAGGGA	0.527		NaN											0	0	0	1	0	8	36				
EPN3	55040	broad.mit.edu	37	17	48619216	48619216	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48619216C>T	uc002ira.3	+	10	2032	c.1597C>T	c.(1597-1599)CCG>TCG	p.P533S	SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Missense_Mutation_p.P561S|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.P506S	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	533	3 X 3 AA repeats of N-P-F.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCTCAGCGCTCCGTCCCCCAC	0.692		NaN											0	0	0	1	0	8	34				
ABCC3	8714	broad.mit.edu	37	17	48750880	48750880	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:48750880C>T	uc002isl.2	+	19	2540	c.2460C>T	c.(2458-2460)TTC>TTT	p.F820F		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	820	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGACAGACTTCATCATTGTGC	0.607		NaN											0	0	0	1	0	8	79				
MBTD1	54799	broad.mit.edu	37	17	49281254	49281254	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:49281254C>G	uc002itr.3	-	8	981	c.637G>C	c.(637-639)GAA>CAA	p.E213Q	MBTD1_uc002itp.3_Missense_Mutation_p.E49Q|MBTD1_uc002itq.3_Missense_Mutation_p.E213Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	213	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGTCATTTTCAAATCCTTCA	0.368		NaN											0	0	0	1	0	106	140				
STXBP4	252983	broad.mit.edu	37	17	53218719	53218719	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:53218719A>G	uc002iuf.1	+	17	1745	c.1538A>G	c.(1537-1539)TAC>TGC	p.Y513C	STXBP4_uc010dcd.1_Missense_Mutation_p.Y491C	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	513	WW.					cytoplasm	calcium ion binding			ovary(1)	1						GGAATCAAGTACTTCATCAAG	0.358		NaN											0	0	0	1	0	12	70				
EPX	8288	broad.mit.edu	37	17	56270423	56270423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:56270423C>T	uc002ivq.2	+	2	187	c.101C>T	c.(100-102)TCG>TTG	p.S34L		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	34					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						GTGGAGACCTCGGTCCTGCGA	0.597		NaN											0	0	0	1	0	66	148				
SKA2	348235	broad.mit.edu	37	17	57189697	57189697	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:57189697G>T	uc002ixd.2	-	4	583	c.307C>A	c.(307-309)CTG>ATG	p.L103M	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_Missense_Mutation_p.H75Q|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	103					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						TCTTTAGTCAGTGGTGACAGC	0.323		NaN											1	0	1.42536e-11	1	1.59215e-11	27	48				
USP32	84669	broad.mit.edu	37	17	58288742	58288742	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:58288742G>C	uc002iyo.1	-	20	2599	c.2313C>G	c.(2311-2313)CTC>CTG	p.L771L	USP32_uc002iyn.1_Silent_p.L441L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTACCTGTTGAGTTCATAAA	0.408		NaN											0	0	0	1	0	20	313				
TBX2	6909	broad.mit.edu	37	17	59479190	59479190	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59479190G>A	uc010wox.1	+	2	822	c.541G>A	c.(541-543)GAG>AAG	p.E181K	TBX2_uc002ize.2_Missense_Mutation_p.E171K|TBX2_uc002izg.2_Missense_Mutation_p.E27K	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	181	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						GGCCGACCCTGAGATGCCCAA	0.577		NaN											0	0	0	1	0	9	130				
BRIP1	83990	broad.mit.edu	37	17	59878667	59878667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:59878667C>T	uc002izk.1	-	8	1228	c.1087G>A	c.(1087-1089)GAC>AAC	p.D363N		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	363	Helicase ATP-binding.				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			ovary(1)	1						AATATGATGTCAGCATCTTGT	0.408		NaN	F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				0	0	0	1	0	41	360				
STRADA	92335	broad.mit.edu	37	17	61787958	61787958	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61787958G>A	uc002jbm.2	-	8	633	c.474C>T	c.(472-474)CTC>CTT	p.L158L	STRADA_uc002jbn.2_Silent_p.L100L|STRADA_uc002jbo.2_Silent_p.L121L|STRADA_uc002jbp.2_Silent_p.L121L|STRADA_uc002jbq.2_Silent_p.L100L|STRADA_uc010wpq.1_Silent_p.L114L|STRADA_uc010wpr.1_Silent_p.L129L|STRADA_uc010ddw.2_Silent_p.L129L|STRADA_uc002jbr.2_Silent_p.L100L	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	158	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						GTGTACAGATGAGATCTTTTG	0.493		NaN											0	0	0	1	0	29	128				
DDX42	11325	broad.mit.edu	37	17	61869914	61869914	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:61869914G>C	uc002jbu.2	+	4	621	c.364G>C	c.(364-366)GAA>CAA	p.E122Q	DDX42_uc002jbv.2_Missense_Mutation_p.E122Q|DDX42_uc002jbw.1_5'UTR	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	122	Potential.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						ATTCATGGCTGAAGTGGAGGC	0.373		NaN											0	0	0	1	0	30	262				
ARSG	22901	broad.mit.edu	37	17	66352862	66352862	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:66352862C>A	uc002jhc.2	+	6	1417	c.621C>A	c.(619-621)CTC>CTA	p.L207L	ARSG_uc002jhb.1_Silent_p.L43L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Arylsulfatase G precursor	207					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGAAAACCTCAACATTGTGG	0.502		NaN											1	0	2.2171e-23	1	2.55585e-23	33	46				
ABCA9	10350	broad.mit.edu	37	17	67024685	67024685	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:67024685G>C	uc002jhu.2	-	12	1749	c.1606C>G	c.(1606-1608)CCA>GCA	p.P536A	ABCA9_uc010dez.2_Missense_Mutation_p.P536A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	536	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CCTGATGTTGGAACTGACAAC	0.363		NaN											0	0	0	1	0	26	82				
KCNJ2	3759	broad.mit.edu	37	17	68171223	68171223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:68171223G>T	uc010dfg.2	+	2	444	c.43G>T	c.(43-45)GAA>TAA	p.E15*	KCNJ2_uc002jir.2_Nonsense_Mutation_p.E15*	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	15	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					CGTCTCTTCAGAAGAAGACGG	0.517		NaN											1	0	1.52009e-12	1	1.71316e-12	16	64				
RAB37	326624	broad.mit.edu	37	17	72739323	72739323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:72739323G>A	uc002jlk.2	+	4	358	c.302G>A	c.(301-303)AGA>AAA	p.R101K	RAB37_uc002jlc.2_Missense_Mutation_p.R94K|RAB37_uc010dfu.2_Missense_Mutation_p.R94K|RAB37_uc002jld.2_Missense_Mutation_p.R94K|RAB37_uc010wrb.1_Missense_Mutation_p.R69K|RAB37_uc010wrc.1_Missense_Mutation_p.R106K|RAB37_uc010wrd.1_Missense_Mutation_p.R69K|RAB37_uc010wre.1_Missense_Mutation_p.R64K|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	101					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						GCTTATTACAGAGATGCTCAG	0.602		NaN											0	0	0	1	0	71	116				
SUMO2	6613	broad.mit.edu	37	17	73164440	73164440	+	Silent	SNP	G	G	C	rs55895120		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73164440G>C	uc002jne.2	-	4	451	c.282C>G	c.(280-282)GTC>GTG	p.V94V	SUMO2_uc002jnf.2_Silent_p.V70V	NM_006937	NP_008868	P61956	SUMO2_HUMAN	SMT3 suppressor of mif two 3 homolog 2 isoform a	94	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding				0	all_lung(278;0.14)|Lung NSC(278;0.168)					CTTTTCAGTAGACACCTCCCG	0.378		NaN											0	0	0	1	0	7	27				
NUP85	79902	broad.mit.edu	37	17	73204648	73204648	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73204648G>C	uc002jng.1	+	2	320	c.60G>C	c.(58-60)AAG>AAC	p.K20N	NUP85_uc010dgd.1_Missense_Mutation_p.K20N|NUP85_uc010wrv.1_Intron	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	20					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTCCAAGAAGAACCAAATGT	0.338		NaN											0	0	0	1	0	32	271				
SLC25A19	60386	broad.mit.edu	37	17	73282415	73282415	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:73282415C>A	uc002jns.3	-	2	1168	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	SLC25A19_uc010dge.2_Missense_Mutation_p.Q86H|SLC25A19_uc002jnv.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnu.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnw.3_Missense_Mutation_p.Q86H|SLC25A19_uc002jnt.3_Missense_Mutation_p.Q86H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	solute carrier family 25, member 19	86	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			ovary(1)	1	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGAGAGAATCTGAGCTGGGA	0.592		NaN											1	0	1.96895e-08	1	2.13684e-08	24	153				
CCDC40	55036	broad.mit.edu	37	17	78059852	78059852	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:78059852G>A	uc010dht.2	+	14	2313	c.2286G>A	c.(2284-2286)CTG>CTA	p.L762L	CCDC40_uc002jxm.3_Silent_p.L545L|CCDC40_uc002jxn.3_Silent_p.L158L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	762	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAAGCTGATCGACGAGC	0.522		NaN											0	0	0	1	0	18	83				
SLC38A10	124565	broad.mit.edu	37	17	79220394	79220394	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:79220394C>T	uc002jzz.1	-	16	2697	c.2322G>A	c.(2320-2322)GAG>GAA	p.E774E	SLC38A10_uc002jzy.1_Silent_p.E692E	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	774					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAGGCAGATTCTCCACCGTCT	0.652		NaN											0	0	0	1	0	14	70				
FASN	2194	broad.mit.edu	37	17	80040026	80040026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80040026C>T	uc002kdu.2	-	36	6139	c.6022G>A	c.(6022-6024)GAG>AAG	p.E2008K	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2008	Beta-ketoacyl reductase (By similarity).				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			central_nervous_system(1)	1	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)|Pyrazinamide(DB00339)	GGGCACGCCTCTCGGGTCACC	0.627		NaN											0	0	0	1	0	9	42				
UTS2R	2837	broad.mit.edu	37	17	80332454	80332454	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80332454C>A	uc010wvl.1	+	1	254	c.254C>A	c.(253-255)TCC>TAC	p.S85Y		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	85	Cytoplasmic (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCGGTGGCCTCCATGTACGTC	0.652		NaN											1	0	0.150653	1	0.151374	4	11				
HEXDC	284004	broad.mit.edu	37	17	80377757	80377757	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80377757G>A	uc002kew.2	+	1	133	c.82G>A	c.(82-84)GAG>AAG	p.E28K	C17orf101_uc002ket.1_5'Flank|C17orf101_uc002keu.1_5'Flank|C17orf101_uc010dip.1_5'Flank|HEXDC_uc002kev.3_Missense_Mutation_p.E28K|HEXDC_uc010diq.2_Missense_Mutation_p.E28K			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	28					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTACCTCTCAGAGGTAAGGAC	0.418		NaN											0	0	0	1	0	16	27				
HEXDC	284004	broad.mit.edu	37	17	80391557	80391557	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr17:80391557C>T	uc002kew.2	+	4	357	c.306C>T	c.(304-306)TTC>TTT	p.F102F	HEXDC_uc002kev.3_Silent_p.F102F|HEXDC_uc010diq.2_Silent_p.F102F|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	102					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACACGGCCTTCGCCCACCTGC	0.652		NaN											0	0	0	1	0	17	56				
LAMA1	284217	broad.mit.edu	37	18	7010382	7010382	+	Silent	SNP	G	G	C	rs139372717		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7010382G>C	uc002knm.2	-	26	3784	c.3690C>G	c.(3688-3690)CTC>CTG	p.L1230L	LAMA1_uc010wzj.1_Silent_p.L706L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1230	Laminin IV type A 2.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATAGGCCATGAGCTATCAAA	0.408		NaN											0	0	0	1	0	29	80				
LAMA1	284217	broad.mit.edu	37	18	7080413	7080413	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:7080413G>A	uc002knm.2	-	2	199	c.105C>T	c.(103-105)ATC>ATT	p.I35I	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	35	Laminin N-terminal.				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			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTGGTGCTGATGTGAGCAT	0.517		NaN											0	0	0	1	0	23	67				
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:13092445C>T	uc010xac.1	+	34	6253	c.6173C>T	c.(6172-6174)TCA>TTA	p.S2058L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2058										ovary(4)|pancreas(1)	5						ATTATACTTTCAGTAATTGGA	0.333		NaN											0	0	0	1	0	16	85				
DCC	1630	broad.mit.edu	37	18	50832018	50832018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:50832018G>A	uc002lfe.1	+	13	2569	c.1982G>A	c.(1981-1983)CGA>CAA	p.R661Q	DCC_uc010xdr.1_Missense_Mutation_p.R509Q|DCC_uc010dpf.1_Missense_Mutation_p.R316Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	661	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R661*(1)		skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATAAAATTCGACACAGAAAG	0.423		NaN											0	0	0	1	0	20	55				
ATP8B1	5205	broad.mit.edu	37	18	55342102	55342102	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:55342102C>G	uc002lgw.2	-	15	1783	c.1783G>C	c.(1783-1785)GAC>CAC	p.D595H	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	595	Cytoplasmic (Potential).				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			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CTGTTGAAGTCCAAAATGGCA	0.473		NaN							Byler_disease				0	0	0	1	0	30	44				
SERPINB13	5275	broad.mit.edu	37	18	61264380	61264380	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:61264380C>T	uc002ljc.2	+	8	1127	c.959C>T	c.(958-960)TCG>TTG	p.S320L	SERPINB13_uc002ljd.2_Missense_Mutation_p.S184L|SERPINB13_uc010xep.1_Missense_Mutation_p.S329L|SERPINB13_uc010xeq.1_Missense_Mutation_p.S141L|SERPINB13_uc010xer.1_Missense_Mutation_p.S141L	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	320					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						TCGGGAATGTCGTCAGGCTCC	0.592		NaN											0	0	0	1	0	16	93				
CDH19	28513	broad.mit.edu	37	18	64235752	64235752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:64235752C>G	uc002lkc.1	-	3	529	c.391G>C	c.(391-393)GAG>CAG	p.E131Q	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.E131Q|CDH19_uc002lkd.2_Missense_Mutation_p.E131Q	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	131	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				AACTCAGACTCAGGTTCCACA	0.438		NaN											0	0	0	1	0	26	104				
NETO1	81832	broad.mit.edu	37	18	70417770	70417770	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70417770G>C	uc002lkw.2	-	9	1352	c.1068C>G	c.(1066-1068)CTC>CTG	p.L356L	NETO1_uc002lkx.1_Silent_p.L355L|NETO1_uc002lky.1_Silent_p.L356L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	356	Helical; (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGATGATAATGAGGATGATCA	0.463		NaN											0	0	0	1	0	18	80				
NETO1	81832	broad.mit.edu	37	18	70451007	70451007	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:70451007G>A	uc002lkw.2	-	7	1058	c.774C>T	c.(772-774)GTC>GTT	p.V258V	NETO1_uc002lkx.1_Silent_p.V257V|NETO1_uc002lky.1_Silent_p.V258V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	258	CUB 2.|Extracellular (Potential).				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			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCGTAGCATGACATCATTAG	0.473		NaN											0	0	0	1	0	154	56				
ZNF516	9658	broad.mit.edu	37	18	74091004	74091004	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr18:74091004G>A	uc010dqx.1	-	3	3301	c.3066C>T	c.(3064-3066)GGC>GGT	p.G1022G	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGCCGCGTCGCCCCTGGACC	0.731		NaN											0	0	0	1	0	7	23				
POLRMT	5442	broad.mit.edu	37	19	630072	630072	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:630072C>G	uc002lpf.1	-	3	346	c.290G>C	c.(289-291)GGA>GCA	p.G97A		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	97					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|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)		GCTACCATCTCCACTGCCACA	0.647		NaN											0	0	0	1	0	22	54				
APC2	10297	broad.mit.edu	37	19	1466922	1466922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1466922C>G	uc002lsr.1	+	15	3830	c.3622C>G	c.(3622-3624)CCC>GCC	p.P1208A	APC2_uc002lss.1_Missense_Mutation_p.P790A|APC2_uc002lst.1_Missense_Mutation_p.P1208A|APC2_uc002lsu.1_Missense_Mutation_p.P1207A|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1208	Interaction with CTNNB1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.				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			breast(3)|pancreas(1)	4		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)		GACCATGCCTCCCAGCCGGAG	0.697		NaN											0	0	0	1	0	3	6				
CSNK1G2	1455	broad.mit.edu	37	19	1978737	1978737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:1978737C>T	uc002lul.3	+	6	958	c.435C>T	c.(433-435)ATC>ATT	p.I145I	CSNK1G2_uc010dsu.2_Silent_p.I97I	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	145	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		TGCTGATGATCGCCATCCAGC	0.388		NaN											0	0	0	1	0	3	4				
DOT1L	84444	broad.mit.edu	37	19	2226780	2226780	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2226780C>G	uc002lvb.3	+	27	4296	c.4260C>G	c.(4258-4260)CTC>CTG	p.L1420L	DOT1L_uc002lvc.1_Silent_p.L714L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1420						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCGACCTCAAGAATGGCC	0.741		NaN											0	0	0	1	0	4	10				
THOP1	7064	broad.mit.edu	37	19	2794783	2794783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:2794783T>C	uc002lwj.2	+	3	406	c.251T>C	c.(250-252)TTC>TCC	p.F84S	THOP1_uc010xgz.1_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	84					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTGACTTCCCCCAGCAT	0.577		NaN											0	0	0	1	0	73	141				
CELF5	60680	broad.mit.edu	37	19	3284910	3284910	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3284910G>C	uc002lxm.2	+	9	1087	c.1050G>C	c.(1048-1050)CCG>CCC	p.P350P	CELF5_uc002lxl.1_Silent_p.P350P|CELF5_uc010dtj.1_Silent_p.P325P|CELF5_uc010xhg.1_Silent_p.P236P|CELF5_uc002lxn.2_RNA	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	350					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2						CTCAGAGCCCGACTGTGGCCG	0.502		NaN											0	0	0	1	0	5	12				
ZFR2	23217	broad.mit.edu	37	19	3816809	3816809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3816809C>T	uc002lyw.2	-	13	1978	c.1966G>A	c.(1966-1968)GTC>ATC	p.V656I		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	656						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCGCATGACGCCTTTCAGG	0.388		NaN											0	0	0	1	0	3	5				
EEF2	1938	broad.mit.edu	37	19	3979971	3979971	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:3979971C>A	uc002lze.2	-	10	1523	c.1440G>T	c.(1438-1440)GTG>GTT	p.V480V		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	480						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCGTCTTCACCAGGAACT	0.592		NaN											1	0	0.00198382	1	0.0020207	7	29				
MLLT1	4298	broad.mit.edu	37	19	6230705	6230705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:6230705C>T	uc002mek.2	-	4	460	c.296G>A	c.(295-297)TGC>TAC	p.C99Y		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	99	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1						GTAGGTGAAGCAGACCTTCCT	0.597		NaN	T	MLL	AL								0	0	0	1	0	30	131				
ZNF557	79230	broad.mit.edu	37	19	7083276	7083276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7083276G>T	uc002mgb.2	+	8	1278	c.793G>T	c.(793-795)GAG>TAG	p.E265*	ZNF557_uc002mga.2_Nonsense_Mutation_p.E272*|ZNF557_uc002mgc.2_Nonsense_Mutation_p.E272*	NM_001044388	NP_001037853	Q8N988	ZN557_HUMAN	zinc finger protein 557 isoform b	265	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2				Lung(535;0.179)		GTGTTTTCGTGAGTTCCGCAC	0.468		NaN											1	0	1.01871e-10	1	1.1319e-10	20	80				
CLEC4G	339390	broad.mit.edu	37	19	7794775	7794775	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7794775C>G	uc002mhp.3	-	8	744	c.675G>C	c.(673-675)CTG>CTC	p.L225L		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	225	Extracellular (Potential).|C-type lectin.					integral to membrane	protein binding|sugar binding				0						GCACAGCCCTCAGGCCCAGCC	0.647		NaN											0	0	0	1	0	9	53				
MAP2K7	5609	broad.mit.edu	37	19	7968896	7968896	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:7968896G>A	uc002mit.2	+	1	132	c.67G>A	c.(67-69)GAG>AAG	p.E23K	MAP2K7_uc002mis.1_Missense_Mutation_p.E23K|MAP2K7_uc002miv.2_Missense_Mutation_p.E23K|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.E23K|MAP2K7_uc010dvv.2_5'UTR	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	23	Potential.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GGAGAACCGGGAGGCCCGGCG	0.388		NaN											0	0	0	1	0	6	7				
ICAM1	3383	broad.mit.edu	37	19	10385665	10385665	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:10385665G>C	uc002mnq.2	+	2	611	c.292G>C	c.(292-294)GAT>CAT	p.D98H	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	98	Extracellular (Potential).|Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	AAACTGCCCTGATGGGCAGTC	0.542		NaN											0	0	0	1	0	29	128				
C19orf52	90580	broad.mit.edu	37	19	11040315	11040315	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040315G>T	uc002mqd.1	+	2	795	c.720G>T	c.(718-720)GAG>GAT	p.E240D	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	240											0						TGCAGAAGGAGAAGAAGGACA	0.632		NaN											1	0	3.27435e-08	1	3.53832e-08	14	17				
C19orf52	90580	broad.mit.edu	37	19	11040364	11040364	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11040364G>C	uc002mqd.1	+	2	844	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	257											0						GGTGCAGGCGGAGGCCCCGAG	0.637		NaN											0	0	0	1	0	4	16				
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:11943309C>T	uc002msp.1	+	4	1474	c.1318C>T	c.(1318-1320)CAA>TAA	p.Q440*		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATAACCTTCAAAGTCATGA	0.398		NaN											0	0	0	1	0	12	77				
ASF1B	55723	broad.mit.edu	37	19	14232376	14232376	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232376C>T	uc002mye.2	-	3	542	c.370G>A	c.(370-372)GAG>AAG	p.E124K		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	124	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						GGCGGGTTCTCACGCAGCTCA	0.557		NaN											0	0	0	1	0	14	81				
ASF1B	55723	broad.mit.edu	37	19	14232407	14232407	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232407G>C	uc002mye.2	-	3	511	c.339C>G	c.(337-339)GTC>GTG	p.V113V		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	113	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						ACTCGTTGTTGACGTAGTAGC	0.577		NaN											0	0	0	1	0	12	68				
ASF1B	55723	broad.mit.edu	37	19	14232458	14232458	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14232458G>A	uc002mye.2	-	3	460	c.288C>T	c.(286-288)CTC>CTT	p.L96L		NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B	96	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus					0						TGCAGGTGATGAGGACCACAG	0.592		NaN											0	0	0	1	0	9	44				
EMR2	30817	broad.mit.edu	37	19	14876511	14876511	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:14876511C>A	uc002mzp.1	-	8	1196	c.740G>T	c.(739-741)AGA>ATA	p.R247I	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.R247I|EMR2_uc002mzo.1_Missense_Mutation_p.R247I|EMR2_uc002mzq.1_Missense_Mutation_p.R198I|EMR2_uc002mzr.1_Missense_Mutation_p.R198I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Missense_Mutation_p.R154I|EMR2_uc002mzu.1_Missense_Mutation_p.R154I|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	247	EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GATTCCGTGTCTGGGCTTCCA	0.607		NaN											1	0	9.16793e-09	1	9.97547e-09	10	66				
OR7C2	26658	broad.mit.edu	37	19	15053121	15053121	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15053121C>T	uc010xoc.1	+	1	821	c.821C>T	c.(820-822)TCG>TTG	p.S274L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Ovarian(108;0.203)					CTGGCAGCCTCGGTGATGTAC	0.557		NaN											0	0	0	1	0	27	95				
EPHX3	79852	broad.mit.edu	37	19	15342142	15342142	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:15342142C>T	uc002nap.2	-	3	604	c.395G>A	c.(394-396)CGA>CAA	p.R132Q	EPHX3_uc002naq.2_Missense_Mutation_p.R132Q	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	132						extracellular region	hydrolase activity				0						GCCATAGCCTCGCAAGTCCAC	0.617		NaN											0	0	0	1	0	11	34				
EPS15L1	58513	broad.mit.edu	37	19	16495955	16495955	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16495955G>A	uc002ndz.1	-	21	2238	c.2232C>T	c.(2230-2232)TTC>TTT	p.F744F	EPS15L1_uc002ndx.2_Silent_p.F744F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F634F|EPS15L1_uc010xpf.1_Silent_p.F647F|EPS15L1_uc002nea.1_Silent_p.F744F|EPS15L1_uc010eah.1_Silent_p.F746F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	744	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						ACATCTGGCTGAAGTCGGCAA	0.542		NaN											0	0	0	1	0	76	92				
EPS15L1	58513	broad.mit.edu	37	19	16528407	16528407	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16528407C>T	uc002ndz.1	-	12	1155	c.1149G>A	c.(1147-1149)GTG>GTA	p.V383V	EPS15L1_uc002ndx.2_Silent_p.V383V|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.V273V|EPS15L1_uc010xpf.1_Silent_p.V286V|EPS15L1_uc002nea.1_Silent_p.V383V|EPS15L1_uc010eah.1_Silent_p.V383V|EPS15L1_uc002neb.1_Silent_p.V229V|EPS15L1_uc002nec.1_Silent_p.V383V	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	383					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CAAGCTCCTTCACGCCAGTAA	0.502		NaN									OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	5	40				
CHERP	10523	broad.mit.edu	37	19	16653184	16653184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:16653184C>G	uc002nei.1	-	1	80	c.6G>C	c.(4-6)GAG>GAC	p.E2D	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	2					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GCAGCGGCATCTCCATGGCTC	0.711		NaN											0	0	0	1	0	3	12				
FAM125A	93343	broad.mit.edu	37	19	17531000	17531000	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17531000C>T	uc002ngo.1	+	1	89	c.56C>T	c.(55-57)TCG>TTG	p.S19L	FAM125A_uc002ngn.1_Missense_Mutation_p.S19L|FAM125A_uc002ngp.1_5'Flank|FAM125A_uc002ngq.1_5'Flank	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	family with sequence similarity 125, member A	19	MABP.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding				0						GCCTGGTCGTCGGCCTCTGCA	0.766		NaN											0	0	0	1	0	3	8				
FCHO1	23149	broad.mit.edu	37	19	17895552	17895552	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:17895552C>G	uc010ebb.2	+	25	2434	c.2245C>G	c.(2245-2247)CAG>GAG	p.Q749E	FCHO1_uc002nhg.3_Missense_Mutation_p.Q749E|FCHO1_uc002nhh.2_Missense_Mutation_p.Q749E|FCHO1_uc010xpw.1_Missense_Mutation_p.Q699E|FCHO1_uc002nhi.2_Missense_Mutation_p.Q205E|FCHO1_uc002nhj.2_Missense_Mutation_p.Q93E	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	749										breast(1)	1						CCCGGGTCCCCAGTCTGTGCC	0.617		NaN									OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	26	72				
ZNF536	9745	broad.mit.edu	37	19	31039181	31039181	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31039181G>A	uc002nsu.1	+	4	2793	c.2655G>A	c.(2653-2655)CTG>CTA	p.L885L	ZNF536_uc010edd.1_Silent_p.L885L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CAGATGCTCTGAAAGGCACTG	0.552		NaN											0	0	0	1	0	34	144				
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768677	+	Silent	SNP	C	C	T	rs151270303		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:31768677C>T	uc002nsy.3	-	2	2087	c.2022G>A	c.(2020-2022)CCG>CCA	p.P674P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	674					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			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					ACCCATCCCGCGGGGGGCTGG	0.657		NaN											0	0	0	1	0	12	65				
PDCD2L	84306	broad.mit.edu	37	19	34912527	34912527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912527C>T	uc002nvj.2	+	6	934	c.901C>T	c.(901-903)CAG>TAG	p.Q301*		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	301						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATTTGAGTTTCAGCTTATGCC	0.453		NaN											0	0	0	1	0	54	142				
PDCD2L	84306	broad.mit.edu	37	19	34912556	34912556	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:34912556C>T	uc002nvj.2	+	6	963	c.930C>T	c.(928-930)CTC>CTT	p.L310L		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	310						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCAGCATGCTCAAGAGTGCTA	0.408		NaN											0	0	0	1	0	50	137				
GAPDHS	26330	broad.mit.edu	37	19	36024442	36024442	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36024442G>A	uc002oaf.1	+	1	129	c.13G>A	c.(13-15)GAC>AAC	p.D5N		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	5					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	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)		NADH(DB00157)	GTCGAAGCGCGACATCGTCCT	0.627		NaN											0	0	0	1	0	20	59				
APLP1	333	broad.mit.edu	37	19	36365501	36365501	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:36365501C>T	uc002oce.2	+	9	1290	c.1152C>T	c.(1150-1152)ATC>ATT	p.I384I	APLP1_uc010xsz.1_Silent_p.I345I|APLP1_uc002ocf.2_Silent_p.I384I|APLP1_uc002ocg.2_Silent_p.I287I|APLP1_uc010xta.1_Silent_p.I378I	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	384	Extracellular (Potential).				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			ovary(2)	2	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)			TCGCCCTTATCAACGACCAGC	0.662		NaN											0	0	0	1	0	22	99				
ZNF781	163115	broad.mit.edu	37	19	38160085	38160085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38160085G>A	uc002ogy.2	-	4	1707	c.965C>T	c.(964-966)TCA>TTA	p.S322L	ZNF781_uc002ogz.2_Missense_Mutation_p.S317L	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTATGCTTGAAGGCCTTCT	0.378		NaN											0	0	0	1	0	64	115				
DPF1	8193	broad.mit.edu	37	19	38713255	38713255	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:38713255G>A	uc002ohl.2	-	2	231	c.204C>T	c.(202-204)CTC>CTT	p.L68L	DPF1_uc002ohm.2_Silent_p.L68L|DPF1_uc002ohn.2_5'UTR|DPF1_uc010xtu.1_Silent_p.L42L|DPF1_uc010xtv.1_Silent_p.L42L|DPF1_uc010xtw.1_Silent_p.L42L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	68					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCGAGTCGAGGAAGGGCA	0.647		NaN											0	0	0	1	0	4	9				
SUPT5H	6829	broad.mit.edu	37	19	39963713	39963713	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963713C>A	uc002olo.3	+	23	2396	c.2217C>A	c.(2215-2217)ACC>ACA	p.T739T	SUPT5H_uc002olp.3_Silent_p.T739T|SUPT5H_uc002olq.3_Silent_p.T735T|SUPT5H_uc002oln.3_Silent_p.T739T|SUPT5H_uc002olr.3_Silent_p.T739T|SUPT5H_uc002ols.1_Silent_p.T362T|SUPT5H_uc010egp.1_Silent_p.T105T	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	739					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			ovary(3)|pancreas(1)	4	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)			TGCACTCCACCTGCCAGACCA	0.667		NaN											1	0	0.000673444	1	0.000690993	10	57				
SUPT5H	6829	broad.mit.edu	37	19	39963872	39963872	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:39963872C>A	uc002olo.3	+	24	2467	c.2288C>A	c.(2287-2289)TCG>TAG	p.S763*	SUPT5H_uc002olp.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.S759*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.S763*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.S386*|SUPT5H_uc010egp.1_Silent_p.L128L	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	763	CTR1-2.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				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			ovary(3)|pancreas(1)	4	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)			GGCATGACCTCGACCTATGGG	0.652		NaN											1	0	5.01169e-05	1	5.22743e-05	16	92				
SELV	348303	broad.mit.edu	37	19	40009746	40009746	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40009746G>A	uc010xvc.1	+	6	1099	c.999G>A	c.(997-999)CAG>CAA	p.Q333Q		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	333					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGCTGCAGAAAATTGTGA	0.597		NaN											0	0	0	1	0	10	61				
PLD3	23646	broad.mit.edu	37	19	40872415	40872415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:40872415G>T	uc002onm.3	+	3	423	c.25G>T	c.(25-27)GAG>TAG	p.E9*	PLD3_uc002onj.3_Nonsense_Mutation_p.E9*|PLD3_uc002onk.3_Nonsense_Mutation_p.E9*|PLD3_uc002onl.3_Nonsense_Mutation_p.E9*|PLD3_uc002onn.2_Nonsense_Mutation_p.E9*|PLD3_uc002ono.2_Nonsense_Mutation_p.E9*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	9	Cytoplasmic (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GATGTACCAGGAGGTAGGTGG	0.597		NaN											1	0	7.45023e-12	1	8.35168e-12	20	55				
CYP2A13	1553	broad.mit.edu	37	19	41594955	41594955	+	Missense_Mutation	SNP	G	G	A	rs148044792		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41594955G>A	uc002opt.2	+	2	311	c.302G>A	c.(301-303)CGA>CAA	p.R101Q		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	101			R -> Q (in allele CYP2A13*4).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	TTCAGCGGGCGAGGCGAGCAG	0.642		NaN											0	0	0	1	0	16	65				
CYP2F1	1572	broad.mit.edu	37	19	41633861	41633861	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41633861C>A	uc002opu.1	+	10	1406	c.1350C>A	c.(1348-1350)CTC>CTA	p.L450L	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	450					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						TTCTGTACCTCACCGCCATCC	0.647		NaN											1	0	0.004672	1	0.00473971	3	17				
CYP2S1	29785	broad.mit.edu	37	19	41709440	41709440	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:41709440C>T	uc002opw.2	+	7	1117	c.1062C>T	c.(1060-1062)GAC>GAT	p.D354D	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Silent_p.D79D	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	354					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						CTTACACCGACGCGGTTCTGC	0.672		NaN											0	0	0	1	0	4	12				
ARHGEF1	9138	broad.mit.edu	37	19	42399472	42399472	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42399472C>T	uc002orx.2	+	12	1037	c.928C>T	c.(928-930)CGG>TGG	p.R310W	ARHGEF1_uc002orw.1_Missense_Mutation_p.R310W|ARHGEF1_uc002ory.2_Missense_Mutation_p.R277W|ARHGEF1_uc002orz.2_Missense_Mutation_p.R148W|ARHGEF1_uc002osa.2_Missense_Mutation_p.R325W|ARHGEF1_uc002osb.2_Missense_Mutation_p.R292W|ARHGEF1_uc002osc.2_Missense_Mutation_p.R4W|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	310					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATGCCCTCTCGGGACCGGAA	0.607		NaN											0	0	0	1	0	50	103				
ARHGEF1	9138	broad.mit.edu	37	19	42410099	42410099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:42410099G>A	uc002orx.2	+	26	2522	c.2413G>A	c.(2413-2415)GAG>AAG	p.E805K	ARHGEF1_uc002ory.2_Missense_Mutation_p.E772K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E643K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E820K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E787K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E559K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E464K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E249K	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	805					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCCCGGACCGAGAGAATCCT	0.667		NaN											0	0	0	1	0	21	67				
CEACAM1	634	broad.mit.edu	37	19	43026086	43026086	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:43026086C>T	uc002otv.2	-	3	806	c.693G>A	c.(691-693)TTG>TTA	p.L231L	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.L231L|CEACAM1_uc010eij.2_Silent_p.L231L|CEACAM1_uc002otx.2_Silent_p.L231L|CEACAM1_uc002oty.2_Silent_p.L231L|CEACAM1_uc002otz.2_Silent_p.L231L|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.L231L|CEACAM1_uc002oub.2_Silent_p.L231L|CEACAM1_uc002ouc.2_Silent_p.L231L	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	231	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AGGTGACATTCAAGGTGACTG	0.552		NaN											0	0	0	1	0	28	184				
C19orf61	56006	broad.mit.edu	37	19	44244303	44244303	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44244303C>G	uc002oxj.2	-	7	1112	c.769G>C	c.(769-771)GAC>CAC	p.D257H	C19orf61_uc002oxk.2_Missense_Mutation_p.D257H|C19orf61_uc010eiy.1_Missense_Mutation_p.D257H	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	257					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				ATAAAGAAGTCGATGCCACTG	0.572		NaN											0	0	0	1	0	40	103				
ZNF225	7768	broad.mit.edu	37	19	44636229	44636229	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:44636229G>C	uc002oyj.1	+	5	1705	c.1462G>C	c.(1462-1464)GAA>CAA	p.E488Q	ZNF225_uc010eje.1_Missense_Mutation_p.E405Q|ZNF225_uc010ejf.1_Missense_Mutation_p.E488Q	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	488	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TAAATGTGAAGAATGTGGGAA	0.393		NaN											0	0	0	1	0	27	83				
GRLF1	2909	broad.mit.edu	37	19	47423577	47423577	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47423577C>G	uc010ekv.2	+	1	1645	c.1645C>G	c.(1645-1647)CAT>GAT	p.H549D		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	549					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			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GAAACACATTCATTTTGTGTA	0.473		NaN											0	0	0	1	0	80	116				
NAPA	8775	broad.mit.edu	37	19	47991562	47991562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:47991562C>T	uc002pha.1	-	11	1171	c.871G>A	c.(871-873)GAG>AAG	p.E291K	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.E252K|NAPA_uc002phc.1_Missense_Mutation_p.E178K|NAPA_uc002phd.1_Missense_Mutation_p.E291K	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	291					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGGTCCTCCTCATCGCCCTGG	0.632		NaN											0	0	0	1	0	17	70				
SPHK2	56848	broad.mit.edu	37	19	49132306	49132306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49132306C>A	uc002pjr.2	+	7	1607	c.1241C>A	c.(1240-1242)TCA>TAA	p.S414*	SPHK2_uc010xzt.1_Nonsense_Mutation_p.S355*|SPHK2_uc002pjs.2_Nonsense_Mutation_p.S414*|SPHK2_uc002pjt.2_Nonsense_Mutation_p.S208*|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Nonsense_Mutation_p.S378*|SPHK2_uc002pjw.2_Nonsense_Mutation_p.S476*	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		atggcccactcacccctgcat	0.338		NaN											1	0	4.7546e-09	1	5.20035e-09	17	21				
RUVBL2	10856	broad.mit.edu	37	19	49514296	49514296	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49514296C>T	uc002plr.1	+	10	841	c.828C>T	c.(826-828)ATC>ATT	p.I276I	RUVBL2_uc002plq.1_Silent_p.I231I|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.I231I|RUVBL2_uc010yac.1_Silent_p.I231I	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	276					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GTGAGCAGATCAATGCCAAGG	0.637		NaN											0	0	0	1	0	6	23				
CD37	951	broad.mit.edu	37	19	49842010	49842010	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:49842010G>A	uc002pnd.2	+	6	622	c.501G>A	c.(499-501)CTG>CTA	p.L167L	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Silent_p.L167L|CD37_uc010yan.1_Silent_p.L99L|CD37_uc002pnf.3_Silent_p.L139L|CD37_uc002pne.2_Silent_p.L99L	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	167	Extracellular (Potential).					integral to membrane					0		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)		TCCTCATCCTGAGAGGTAACG	0.607		NaN											0	0	0	1	0	19	108				
FCGRT	2217	broad.mit.edu	37	19	50017149	50017149	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:50017149C>T	uc002poe.2	+	3	570	c.84C>T	c.(82-84)CTC>CTT	p.L28L	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.L28L|FCGRT_uc002pof.1_5'UTR|FCGRT_uc010yax.1_Silent_p.L28L|FCGRT_uc002poh.1_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	28	Extracellular (Potential).|Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AAAGCCACCTCTCCCTCCTGT	0.612		NaN											0	0	0	1	0	72	223				
SHANK1	50944	broad.mit.edu	37	19	51169834	51169834	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:51169834C>G	uc002psx.1	-	22	5402	c.5383G>C	c.(5383-5385)GAT>CAT	p.D1795H	SHANK1_uc002psw.1_Missense_Mutation_p.D1179H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1795					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCAGCCCATCGGTTCCAGCC	0.721		NaN											0	0	0	1	0	4	18				
ZNF577	84765	broad.mit.edu	37	19	52375790	52375790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52375790C>A	uc010yde.1	-	7	1844	c.1453G>T	c.(1453-1455)GAA>TAA	p.E485*	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Nonsense_Mutation_p.E426*|ZNF577_uc002pxv.2_Nonsense_Mutation_p.E478*|ZNF577_uc002pxw.2_Nonsense_Mutation_p.E419*	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	zinc finger protein 577 isoform a	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGATTTATTCTGATACAATA	0.373		NaN											1	0	0.014758	1	0.0149118	5	18				
PPP2R1A	5518	broad.mit.edu	37	19	52719907	52719907	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:52719907G>A	uc002pyp.2	+	9	1278	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	PPP2R1A_uc010ydk.1_Silent_p.L318L|PPP2R1A_uc010epm.1_Silent_p.L413L|PPP2R1A_uc002pyq.2_Silent_p.L194L	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	373	PP2A subunit B binding.|HEAT 10.				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			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTCAGCTGAAGGATGAGG	0.547		NaN	Mis		clear cell ovarian carcinoma								0	0	0	1	0	30	50				
ZNF578	147660	broad.mit.edu	37	19	53013953	53013953	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53013953G>A	uc002pzp.3	+	6	563	c.319G>A	c.(319-321)GAA>AAA	p.E107K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCAGGAAATTGAAAAAGATAT	0.398		NaN											0	0	0	1	0	63	166				
ZNF813	126017	broad.mit.edu	37	19	53995335	53995335	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:53995335A>G	uc002qbu.2	+	4	1977	c.1849A>G	c.(1849-1851)AAT>GAT	p.N617D	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAAGCTTTTAATTGAAAAGC	0.373		NaN											0	0	0	1	0	7	30				
OSCAR	126014	broad.mit.edu	37	19	54600327	54600327	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54600327G>A	uc002qdd.2	-	4	387	c.270C>T	c.(268-270)TTC>TTT	p.F90F	OSCAR_uc002qcy.2_Silent_p.F69F|OSCAR_uc002qcz.2_Silent_p.F65F|OSCAR_uc002qda.2_Silent_p.F69F|OSCAR_uc002qdb.2_Silent_p.F54F|OSCAR_uc010erc.2_Nonsense_Mutation_p.Q33*|OSCAR_uc002qdc.2_Silent_p.F79F	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	osteoclast-associated receptor isoform 1	65	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CTCCAGGCTTGAAAAGTCCAA	0.587		NaN											0	0	0	1	0	45	118				
PRPF31	26121	broad.mit.edu	37	19	54627903	54627903	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:54627903C>G	uc002qdh.2	+	8	1119	c.723C>G	c.(721-723)CTC>CTG	p.L241L	PRPF31_uc010yek.1_Silent_p.L241L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	241	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGACCAACCTCTCCAAGATGC	0.647		NaN											0	0	0	1	0	12	101				
LILRA1	11024	broad.mit.edu	37	19	55107894	55107894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107894C>T	uc002qgh.1	+	7	1381	c.1199C>T	c.(1198-1200)TCA>TTA	p.S400L	LILRA2_uc010yfg.1_Missense_Mutation_p.S398L|LILRA1_uc010yfh.1_Missense_Mutation_p.S400L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	400	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGCTACGGCTCACTCAGCTCC	0.572		NaN											0	0	0	1	0	80	136				
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55107923C>T	uc002qgh.1	+	7	1410	c.1228C>T	c.(1228-1230)CAC>TAC	p.H410Y	LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	410	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612		NaN											0	0	0	1	0	66	120				
NLRP2	55655	broad.mit.edu	37	19	55493683	55493683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55493683C>T	uc002qij.2	+	6	703	c.617C>T	c.(616-618)TCA>TTA	p.S206L	NLRP2_uc010yfp.1_Missense_Mutation_p.S183L|NLRP2_uc010esn.2_Missense_Mutation_p.S182L|NLRP2_uc010eso.2_Missense_Mutation_p.S203L|NLRP2_uc010esp.2_Missense_Mutation_p.S184L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	206					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGCCCTTCTCATACACGGTG	0.542		NaN											0	0	0	1	0	24	94				
NLRP2	55655	broad.mit.edu	37	19	55502018	55502018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:55502018G>A	uc002qij.2	+	10	2772	c.2686G>A	c.(2686-2688)GAG>AAG	p.E896K	NLRP2_uc010yfp.1_Missense_Mutation_p.E873K|NLRP2_uc010esn.2_Missense_Mutation_p.E872K|NLRP2_uc010eso.2_Missense_Mutation_p.E893K|NLRP2_uc010esp.2_Missense_Mutation_p.E874K	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	896					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGGTACCCCGAGTGTAAACT	0.567		NaN											0	0	0	1	0	14	64				
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:56321174C>T	uc010ygf.1	-	5	1513	c.802G>A	c.(802-804)GCT>ACT	p.A268T	NLRP11_uc002qlz.2_Missense_Mutation_p.A169T|NLRP11_uc002qmb.2_Missense_Mutation_p.A169T|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	268	NACHT.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458		NaN											0	0	0	1	0	11	53				
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58639517C>T	uc002qrn.2	-	4	1591	c.1354G>A	c.(1354-1356)GAG>AAG	p.E452K	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		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)		TAGGGCTTCTCACCAGTATGA	0.502		NaN											0	0	0	1	0	9	65				
ZNF132	7691	broad.mit.edu	37	19	58948469	58948469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr19:58948469C>G	uc002qst.3	-	2	578	c.177G>C	c.(175-177)CAG>CAC	p.Q59H		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		ACAGGTGCCTCTGGGCTGCAT	0.517		NaN											0	0	0	1	0	13	60				
TPO	7173	broad.mit.edu	37	2	1500420	1500420	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:1500420G>A	uc002qww.2	+	13	2360	c.2269G>A	c.(2269-2271)GAG>AAG	p.E757K	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E700K|TPO_uc002qwr.2_Missense_Mutation_p.E757K|TPO_uc002qwx.2_Missense_Mutation_p.E700K|TPO_uc010yio.1_Missense_Mutation_p.E584K|TPO_uc010yip.1_Missense_Mutation_p.E757K|TPO_uc002qwy.1_Missense_Mutation_p.E97K|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	757	Extracellular (Potential).|Sushi.				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			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	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)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGTGCACTGTGAGGAGTCTGG	0.547		NaN											0	0	0	1	0	45	83				
RNASEH1	246243	broad.mit.edu	37	2	3596688	3596688	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:3596688C>A	uc002qxt.2	-	5	614	c.524G>T	c.(523-525)AGA>ATA	p.R175I	RNASEH1_uc002qxs.2_Missense_Mutation_p.R58I	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	175	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CCCAGGAAGTCTAATGCCTAC	0.328		NaN											1	0	7.38237e-10	1	8.16662e-10	28	218				
RSAD2	91543	broad.mit.edu	37	2	7018251	7018251	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:7018251G>A	uc002qyp.1	+	1	456	c.320G>A	c.(319-321)AGA>AAA	p.R107K		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	107					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAGCAAAGAGAGGATTGCTT	0.507		NaN											0	0	0	1	0	17	30				
IAH1	285148	broad.mit.edu	37	2	9628347	9628347	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:9628347C>T	uc002qzr.2	+	6	662	c.636C>T	c.(634-636)CTC>CTT	p.L212L	IAH1_uc002qzs.2_Silent_p.L99L|IAH1_uc002qzt.2_Silent_p.L99L|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	212					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCGCATCTCTGGCCTTTGA	0.428		NaN											0	0	0	1	0	12	79				
ODC1	4953	broad.mit.edu	37	2	10582001	10582001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:10582001T>C	uc010exg.1	-	10	1402	c.968A>G	c.(967-969)TAT>TGT	p.Y323C	ODC1_uc002ran.1_Missense_Mutation_p.Y9C|ODC1_uc002rao.1_Missense_Mutation_p.Y323C|ODC1_uc010yjd.1_Missense_Mutation_p.Y193C	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	323					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AAATGATCCATAGACGCCATC	0.383		NaN											0	0	0	1	0	35	168				
PQLC3	130814	broad.mit.edu	37	2	11295764	11295764	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:11295764C>T	uc002rbc.2	+	1	225	c.92C>T	c.(91-93)GCG>GTG	p.A31V	PQLC3_uc010yjk.1_Missense_Mutation_p.A31V	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	31						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGCTAGCGGCGCGCAGCGCG	0.721		NaN											0	0	0	1	0	3	3				
MATN3	4148	broad.mit.edu	37	2	20205794	20205794	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20205794C>A	uc002rdl.2	-	2	564	c.501G>T	c.(499-501)CAG>CAT	p.Q167H	MATN3_uc010exu.1_Missense_Mutation_p.Q167H	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	167	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGCTGTCTGGATGGCTA	0.567		NaN											1	0	2.32078e-09	1	2.5472e-09	14	52				
RHOB	388	broad.mit.edu	37	2	20647712	20647712	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:20647712G>C	uc002rdv.2	+	1	878	c.486G>C	c.(484-486)AAG>AAC	p.K162N		NM_004040	NP_004031	P62745	RHOB_HUMAN	ras homolog gene family, member B precursor	162					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTGCCAAGACCAAGGAAG	0.667		NaN											0	0	0	1	0	19	126		Valid		
OTOF	9381	broad.mit.edu	37	2	26706399	26706399	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26706399C>G	uc002rhk.2	-	13	1450	c.1323G>C	c.(1321-1323)AAG>AAC	p.K441N		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	441	Cytoplasmic (Potential).|C2 2.				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			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAAGCCTTCTTTACATTGG	0.567		NaN											0	0	0	1	0	17	62				
C2orf70	339778	broad.mit.edu	37	2	26800472	26800472	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:26800472A>T	uc010eyn.2	+	3	437	c.437A>T	c.(436-438)GAA>GTA	p.E146V		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	146										skin(1)	1						AGGGAGCCGGAACGGTACCCC	0.597		NaN									OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	8	52				
EIF2B4	8890	broad.mit.edu	37	2	27589789	27589789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589789G>T	uc002rkb.2	-	11	1171	c.1028C>A	c.(1027-1029)TCA>TAA	p.S343*	EIF2B4_uc002rjz.2_Nonsense_Mutation_p.S363*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.S328*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.S342*|EIF2B4_uc002rkd.2_Nonsense_Mutation_p.S137*|EIF2B4_uc002rke.2_Nonsense_Mutation_p.S312*|EIF2B4_uc002rkf.1_3'UTR	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	343					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAATTCGTGATACCAGAGA	0.502		NaN											1	0	2.01872e-29	1	2.3357e-29	41	273				
EIF2B4	8890	broad.mit.edu	37	2	27589796	27589796	+	Missense_Mutation	SNP	G	G	T	rs145468921	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27589796G>T	uc002rkb.2	-	11	1164	c.1021C>A	c.(1021-1023)CTG>ATG	p.L341M	EIF2B4_uc002rjz.2_Missense_Mutation_p.L361M|EIF2B4_uc002rka.2_Missense_Mutation_p.L326M|EIF2B4_uc002rkc.2_Missense_Mutation_p.L340M|EIF2B4_uc002rkd.2_Missense_Mutation_p.L135M|EIF2B4_uc002rke.2_Missense_Mutation_p.L310M|EIF2B4_uc002rkf.1_3'UTR	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	341					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATACCAGAGATGAGCTA	0.502		NaN											1	0	6.61955e-31	1	7.67307e-31	37	271				
NRBP1	29959	broad.mit.edu	37	2	27656634	27656634	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27656634C>G	uc002rko.2	+	4	1137	c.305C>G	c.(304-306)TCT>TGT	p.S102C	NRBP1_uc002rkq.2_Missense_Mutation_p.S102C|NRBP1_uc002rkp.2_Missense_Mutation_p.S102C|NRBP1_uc002rkr.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	102	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTACAGTTCTCTGAACGCAAG	0.478		NaN											0	0	0	1	0	35	57				
GPN1	11321	broad.mit.edu	37	2	27864120	27864120	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27864120G>A	uc010ymc.1	+	11	877	c.856G>A	c.(856-858)GAA>AAA	p.E286K	GPN1_uc010ezf.2_Missense_Mutation_p.E260K|GPN1_uc010yma.1_Missense_Mutation_p.E193K|GPN1_uc010ymb.1_Missense_Mutation_p.E177K|GPN1_uc010ymd.1_Missense_Mutation_p.E167K|GPN1_uc010yme.1_Intron|GPN1_uc010ezg.1_Missense_Mutation_p.E167K	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1 isoform a	272						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding				0						GTATCGTCCTGAATATGAACG	0.373		NaN											0	0	0	1	0	29	61				
SLC4A1AP	22950	broad.mit.edu	37	2	27908000	27908000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:27908000G>T	uc002rlk.3	+	10	2254	c.1972G>T	c.(1972-1974)GAG>TAG	p.E658*		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	658	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)					agaggaagaagagaaagaaaa	0.363		NaN											1	0	9.80776e-20	1	1.12446e-19	30	88				
SPDYA	245711	broad.mit.edu	37	2	29052060	29052060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:29052060G>A	uc002rmj.2	+	6	633	c.427G>A	c.(427-429)GAA>AAA	p.E143K	SPDYA_uc002rmi.2_Missense_Mutation_p.E143K|SPDYA_uc002rmk.2_Missense_Mutation_p.E143K|SPDYA_uc002rml.2_Missense_Mutation_p.E143K	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	143	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					AACCAAGTACGAAATTTTTCC	0.279		NaN											0	0	0	1	0	11	65				
BIRC6	57448	broad.mit.edu	37	2	32617216	32617216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:32617216C>G	uc010ezu.2	+	5	1083	c.949C>G	c.(949-951)CAG>GAG	p.Q317E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	317	BIR.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					ATTTTATCATCAGGTAAAAAA	0.368		NaN											0	0	0	1	0	3	12				
VIT	5212	broad.mit.edu	37	2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37035867C>T	uc002rpl.2	+	15	1863	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	VIT_uc002rpm.2_Missense_Mutation_p.R526C|VIT_uc010ezv.2_Missense_Mutation_p.R504C|VIT_uc010ezw.2_Missense_Mutation_p.R505C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587		NaN											0	0	0	1	0	14	91				
VIT	5212	broad.mit.edu	37	2	37041503	37041503	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37041503G>A	uc002rpl.2	+	16	2302	c.2081G>A	c.(2080-2082)TGA>TAA	p.*694*	VIT_uc002rpm.2_Silent_p.*672*|VIT_uc010ezv.2_Silent_p.*650*|VIT_uc010ezw.2_Silent_p.*651*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	694						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				CCTCGGAACTGAATTCAGAGC	0.517		NaN											0	0	0	1	0	28	37				
SULT6B1	391365	broad.mit.edu	37	2	37402322	37402322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37402322G>C	uc002rpu.2	-	5	484	c.463C>G	c.(463-465)CTT>GTT	p.L155V	SULT6B1_uc010yni.1_Intron	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	193						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				TCGCCATCAAGATGTTTGTTC	0.313		NaN											0	0	0	1	0	8	48				
SULT6B1	391365	broad.mit.edu	37	2	37410658	37410658	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37410658C>G	uc002rpu.2	-	3	220	c.199_splice	c.e3-1	p.R67_splice	SULT6B1_uc010yni.1_Splice_Site	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member							cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				CTTTCATTCTCTTAAAAATAT	0.328		NaN											0	0	0	1	0	19	47				
PRKD3	23683	broad.mit.edu	37	2	37516589	37516589	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:37516589C>G	uc002rqd.2	-	4	1182	c.627G>C	c.(625-627)AAG>AAC	p.K209N	PRKD3_uc002rqf.1_Missense_Mutation_p.K209N	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	209					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			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				ACAGACGTCTCTTTCTTACTC	0.398		NaN											0	0	0	1	0	32	70				
CYP1B1	1545	broad.mit.edu	37	2	38302448	38302448	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:38302448C>T	uc002rqo.2	-	3	487	c.84G>A	c.(82-84)TCG>TCA	p.S28S		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	28			S -> W (in POAG).		visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	TGGCCAGCACCGACAGGAGTA	0.682		NaN											0	0	0	1	0	5	13				
ABCG5	64240	broad.mit.edu	37	2	44041638	44041638	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:44041638G>A	uc002rtn.2	-	12	1880	c.1740C>T	c.(1738-1740)TTC>TTT	p.F580F	ABCG5_uc002rtm.2_Silent_p.F185F|ABCG5_uc002rto.2_Silent_p.F409F|ABCG5_uc002rtp.2_Silent_p.F185F	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	580	Extracellular (Potential).|ABC transmembrane type-2.				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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGTCCGTAGAACTCATTGA	0.308		NaN											0	0	0	1	0	9	56				
MSH6	2956	broad.mit.edu	37	2	48027189	48027189	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:48027189C>G	uc002rwd.3	+	4	2219	c.2067C>G	c.(2065-2067)TTC>TTG	p.F689L	MSH6_uc002rwc.2_Missense_Mutation_p.F689L|MSH6_uc010fbj.2_Missense_Mutation_p.F387L|MSH6_uc010yoi.1_Missense_Mutation_p.F559L|MSH6_uc010yoj.1_Missense_Mutation_p.F387L	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	689					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			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGTGTCTTCTACCTCAAAA	0.423		NaN	Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				0	0	0	1	0	54	169				
PNPT1	87178	broad.mit.edu	37	2	55900125	55900125	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:55900125G>T	uc002rzf.2	-	9	822	c.769C>A	c.(769-771)CAG>AAG	p.Q257K	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	257					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATGCCCTGAATTATTTGT	0.398		NaN											1	0	1.40151e-16	1	1.59955e-16	19	134				
ARHGAP25	9938	broad.mit.edu	37	2	69053293	69053293	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:69053293C>G	uc002seu.2	+	11	2269	c.1905C>G	c.(1903-1905)GTC>GTG	p.V635V	ARHGAP25_uc010fdg.2_Silent_p.V636V|ARHGAP25_uc010yql.1_Silent_p.V596V|ARHGAP25_uc002sew.2_Silent_p.V628V|ARHGAP25_uc002sex.2_Silent_p.V629V|ARHGAP25_uc002sey.2_Silent_p.V362V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	635	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						AGGAATTTGTCAAATCCATGA	0.552		NaN											0	0	0	1	0	12	73				
SFXN5	94097	broad.mit.edu	37	2	73226123	73226123	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73226123G>T	uc002siq.2	-	9	620	c.489C>A	c.(487-489)TTC>TTA	p.F163L	SFXN5_uc002sio.2_Missense_Mutation_p.F55L|SFXN5_uc010yrc.1_Nonsense_Mutation_p.S20*|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Missense_Mutation_p.F163L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	163	Helical; (Potential).				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						ATCCCTGGATGAACTTGGATG	0.592		NaN											1	0	5.18039e-06	1	5.46217e-06	8	32				
FBXO41	150726	broad.mit.edu	37	2	73487572	73487572	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73487572C>A	uc002sjb.1	-	11	2577	c.2577G>T	c.(2575-2577)GAG>GAT	p.E859D		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	798						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GCACCAGCATCTCCAGTCCCT	0.617		NaN											1	0	6.4e-05	1	6.66446e-05	3	17				
EGR4	1961	broad.mit.edu	37	2	73519500	73519500	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73519500G>A	uc010yrj.1	-	2	930	c.855C>T	c.(853-855)GTC>GTT	p.V285V	EGR4_uc010yrk.1_Silent_p.V284V	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	181						intracellular	nucleic acid binding|zinc ion binding				0						GGCCGGGCTTGACGTCGGGCG	0.721		NaN											0	0	0	1	0	4	13				
TPRKB	51002	broad.mit.edu	37	2	73957849	73957849	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:73957849C>G	uc002sjn.2	-	4	390	c.279G>C	c.(277-279)TTG>TTC	p.L93F	TPRKB_uc002sjm.2_Missense_Mutation_p.L132F|TPRKB_uc002sjl.2_Missense_Mutation_p.L60F|TPRKB_uc002sjo.2_Missense_Mutation_p.L93F|TPRKB_uc010yrm.1_Missense_Mutation_p.L60F	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	93					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						CAAATTTTTTCAAAGCCTCTG	0.308		NaN											0	0	0	1	0	9	59				
SLC4A5	57835	broad.mit.edu	37	2	74466593	74466593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74466593C>T	uc002sko.1	-	16	2190	c.2188G>A	c.(2188-2190)GGG>AGG	p.G730R	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G730R|SLC4A5_uc010ffc.1_Missense_Mutation_p.G730R|SLC4A5_uc002skp.1_Missense_Mutation_p.G666R|SLC4A5_uc002sks.1_Missense_Mutation_p.G730R	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	730	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						AGCAGGCGCCCGCCGTAGCTC	0.537		NaN											0	0	0	1	0	32	62				
MRPL53	116540	broad.mit.edu	37	2	74699709	74699709	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74699709C>G	uc002sln.2	-	1	219	c.79G>C	c.(79-81)GTG>CTG	p.V27L	CCDC142_uc002slo.2_RNA	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53 precursor	27						mitochondrion|ribosome					0						GTCGATTCCACGTTTTTCTCG	0.592		NaN											0	0	0	1	0	13	80				
LBX2	85474	broad.mit.edu	37	2	74725193	74725193	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74725193G>A	uc002slv.3	-	2	463	c.458C>T	c.(457-459)TCG>TTG	p.S153L	LBX2_uc002slw.2_Missense_Mutation_p.S149L	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCGCGTAGCGAGGCGACGTC	0.692		NaN											0	0	0	1	0	21	60				
DQX1	165545	broad.mit.edu	37	2	74749805	74749805	+	Nonsense_Mutation	SNP	G	G	C	rs145468372		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74749805G>C	uc010yrw.1	-	8	1562	c.1397C>G	c.(1396-1398)TCA>TGA	p.S466*	DQX1_uc002smc.2_Nonsense_Mutation_p.S27*	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	466						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						AGGGAATTCTGATAGTATGAC	0.557		NaN											0	0	0	1	0	34	200				
LOXL3	84695	broad.mit.edu	37	2	74763222	74763222	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:74763222G>C	uc002smp.1	-	7	1221	c.1149C>G	c.(1147-1149)CTC>CTG	p.L383L	LOXL3_uc002smo.1_Silent_p.L22L|LOXL3_uc010ffm.1_Silent_p.L383L|LOXL3_uc002smq.1_Silent_p.L238L|LOXL3_uc010ffn.1_Silent_p.L238L	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	383	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						GGCACTTCCAGAGGGAGAGCT	0.542		NaN											0	0	0	1	0	18	101				
LRRTM1	347730	broad.mit.edu	37	2	80530006	80530006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:80530006C>T	uc002sok.1	-	2	1209	c.939G>A	c.(937-939)GGG>GGA	p.G313G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	313	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CCCACAGGTTCCCGGCCAGGG	0.632		NaN								HNSCC(69;0.2)			0	0	0	1	0	18	35				
RPIA	22934	broad.mit.edu	37	2	88999546	88999546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:88999546G>C	uc002ste.2	+	3	407	c.366G>C	c.(364-366)GAG>GAC	p.E122D		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	122					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGAAGCAAGAGAATCTGAACC	0.453		NaN											0	0	0	1	0	11	95				
VWA3B	200403	broad.mit.edu	37	2	98844712	98844712	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:98844712T>G	uc002syo.2	+	15	2331	c.2067T>G	c.(2065-2067)AGT>AGG	p.S689R	VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.S208R|VWA3B_uc002sym.2_Missense_Mutation_p.S689R|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.S346R|VWA3B_uc002syp.1_Missense_Mutation_p.S81R|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.S6R	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	689										ovary(3)|large_intestine(2)|skin(1)	6						AGGGTCACAGTGATCTGGAGA	0.418		NaN											0	0	0	1	0	20	88				
IL18RAP	8807	broad.mit.edu	37	2	103068601	103068601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:103068601C>G	uc002tbx.2	+	12	2244	c.1760C>G	c.(1759-1761)ACA>AGA	p.T587R	IL18RAP_uc010fiz.2_Missense_Mutation_p.T445R	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	587	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						CTCAGTAGAACAGAAACCACT	0.507		NaN											0	0	0	1	0	28	108				
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	by1000genomes	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:107040564C>T	uc010ywi.1	-	20	3916	c.3859G>A	c.(3859-3861)GAG>AAG	p.E1287K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					intracellular transport		binding			ovary(1)	1						GTTGTTGACTCATCAAAGTGG	0.408		NaN											0	0	0	1	0	10	162				
PTPN4	5775	broad.mit.edu	37	2	120703971	120703971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:120703971G>A	uc002tmf.1	+	17	2341	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K	PTPN4_uc010flj.1_Missense_Mutation_p.E237K|PTPN4_uc010yyr.1_Missense_Mutation_p.E157K	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	524	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	GAAACCTGATGAAAATGGGAG	0.269		NaN											0	0	0	1	0	21	79				
CLASP1	23332	broad.mit.edu	37	2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:122145474C>A	uc002tnc.2	-	30	3522	c.3132G>T	c.(3130-3132)CAG>CAT	p.Q1044H	CLASP1_uc010yyv.1_Missense_Mutation_p.Q129H|CLASP1_uc002tmz.2_Missense_Mutation_p.Q129H|CLASP1_uc002tna.2_Missense_Mutation_p.Q129H|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1024H|CLASP1_uc010yza.1_Missense_Mutation_p.Q1016H|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tnf.2_5'UTR	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1044					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			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					TTAGCACAATCTGTGCTGCCT	0.333		NaN											1	0	8.12818e-05	1	8.44313e-05	7	33				
ERCC3	2071	broad.mit.edu	37	2	128018835	128018835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:128018835C>T	uc002toh.1	-	13	2128	c.2033G>A	c.(2032-2034)AGA>AAA	p.R678K	ERCC3_uc002toe.1_Missense_Mutation_p.R433K|ERCC3_uc002tof.1_Missense_Mutation_p.R614K|ERCC3_uc002tog.1_Missense_Mutation_p.R614K	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	678	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCAAGAATCTCTGCCGCTT	0.463		NaN	Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	1	0	13	38				
NCKAP5	344148	broad.mit.edu	37	2	133541789	133541789	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:133541789A>G	uc002ttp.2	-	14	2969	c.2595T>C	c.(2593-2595)ATT>ATC	p.I865I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	865							protein binding				0						AATGTTTTGGAATGTGTGGAT	0.542		NaN											0	0	0	1	0	23	84				
RAB3GAP1	22930	broad.mit.edu	37	2	135908057	135908057	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:135908057C>T	uc002tuj.2	+	18	2067	c.2042C>T	c.(2041-2043)TCA>TTA	p.S681L	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S681L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S506L|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	681						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTCTGCTCTCAGATATGGAG	0.468		NaN											0	0	0	1	0	4	42				
NR4A2	4929	broad.mit.edu	37	2	157186448	157186448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:157186448G>A	uc002tyz.3	-	3	673	c.251C>T	c.(250-252)TCC>TTC	p.S84F	NR4A2_uc002tyx.3_Missense_Mutation_p.S21F|NR4A2_uc010zcf.1_Missense_Mutation_p.S84F|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	84	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						CTGCTGTCCGGACAGGGGCAT	0.542		NaN											0	0	0	1	0	17	82				
TANC1	85461	broad.mit.edu	37	2	160042372	160042372	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:160042372G>C	uc002uag.2	+	15	2855	c.2581G>C	c.(2581-2583)GAG>CAG	p.E861Q	TANC1_uc010zcm.1_Missense_Mutation_p.E853Q|TANC1_uc010fom.1_Missense_Mutation_p.E667Q	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	861						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GCAGACCATGGAGCTTGGCCA	0.522		NaN											0	0	0	1	0	7	23				
SCN1A	6323	broad.mit.edu	37	2	166908450	166908450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:166908450G>C	uc010zcz.1	-	6	761	c.743C>G	c.(742-744)TCA>TGA	p.S248*	SCN1A_uc002udo.3_Nonsense_Mutation_p.S117*|SCN1A_uc010fpk.2_Nonsense_Mutation_p.S117*	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	248	I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATTACATCTGAGAGCTTCTT	0.423		NaN											0	0	0	1	0	17	76				
METTL5	29081	broad.mit.edu	37	2	170669018	170669018	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:170669018T>C	uc002ufn.2	-	6	788	c.542_splice	c.e6-1	p.E181_splice	METTL5_uc002ufo.2_Splice_Site_p.E181_splice|METTL5_uc002ufp.2_Splice_Site_p.E181_splice|METTL5_uc002ufq.1_Intron	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	methyltransferase like 5								methyltransferase activity|nucleic acid binding			central_nervous_system(1)	1						ATCGAAGTTCTGTAAAACAAA	0.358		NaN											0	0	0	1	0	34	64				
HAT1	8520	broad.mit.edu	37	2	172822425	172822425	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172822425C>G	uc002uhi.2	+	6	683	c.607C>G	c.(607-609)CTA>GTA	p.L203V	HAT1_uc010fqi.2_Missense_Mutation_p.L38V|HAT1_uc002uhj.2_Missense_Mutation_p.L118V	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	203					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCACTACTTTCTAGTGTAAGT	0.378		NaN											0	0	0	1	0	20	115				
HAT1	8520	broad.mit.edu	37	2	172841129	172841129	+	Missense_Mutation	SNP	G	G	A	rs140409528		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:172841129G>A	uc002uhi.2	+	9	933	c.857G>A	c.(856-858)CGA>CAA	p.R286Q	HAT1_uc010fqi.2_Missense_Mutation_p.R121Q|HAT1_uc002uhj.2_Missense_Mutation_p.R201Q	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	286					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGAAATTACGAGACTTTGTG	0.353		NaN											0	0	0	1	0	20	40				
OSBPL6	114880	broad.mit.edu	37	2	179197760	179197760	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179197760G>A	uc002ulx.2	+	8	1027	c.649G>A	c.(649-651)GAT>AAT	p.D217N	OSBPL6_uc002ulw.2_Missense_Mutation_p.D217N|OSBPL6_uc002uly.2_Missense_Mutation_p.D217N|OSBPL6_uc010zfe.1_Missense_Mutation_p.D217N|OSBPL6_uc002ulz.2_Missense_Mutation_p.D217N|OSBPL6_uc002uma.2_Missense_Mutation_p.D196N	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	217					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTGTAATGGATGGAAAGGT	0.299		NaN											0	0	0	1	0	10	59				
TTN	7273	broad.mit.edu	37	2	179603040	179603040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179603040C>T	uc010zfg.1	-	46	10632	c.10408G>A	c.(10408-10410)GGC>AGC	p.G3470S	TTN_uc010zfh.1_Missense_Mutation_p.G4543S|TTN_uc010zfi.1_Missense_Mutation_p.G4476S|TTN_uc010zfj.1_Missense_Mutation_p.G4351S|TTN_uc002umz.1_Missense_Mutation_p.G131S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4397							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGGTGGCCCAGTGCTACT	0.483		NaN											0	0	0	1	0	7	26				
TTN	7273	broad.mit.edu	37	2	179605533	179605533	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:179605533G>T	uc010zfh.1	-	46	12138	c.11914C>A	c.(11914-11916)CTC>ATC	p.L3972I	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3905I|TTN_uc010zfj.1_Missense_Mutation_p.L3780I|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCCTTGAGAGGCTGAAAG	0.473		NaN											1	0	1.55811e-20	1	1.78963e-20	30	119				
DNAJC10	54431	broad.mit.edu	37	2	183582961	183582961	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183582961G>A	uc002uow.1	+	3	563	c.148G>A	c.(148-150)GAA>AAA	p.E50K	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.E50K|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	50	J.				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			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCAGTAGAGAAATAAGACA	0.338		NaN											0	0	0	1	0	18	69				
NCKAP1	10787	broad.mit.edu	37	2	183860508	183860508	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:183860508G>C	uc002upc.2	-	7	1064	c.662C>G	c.(661-663)GCT>GGT	p.A221G	NCKAP1_uc002upb.2_Missense_Mutation_p.A227G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	221					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACTGGTCAGCTGAAAGATT	0.368		NaN											0	0	0	1	0	12	69				
SLC40A1	30061	broad.mit.edu	37	2	190428686	190428686	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:190428686G>A	uc002uqp.3	-	7	1377	c.1026C>T	c.(1024-1026)CTC>CTT	p.L342L		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	342	Helical; (Potential).				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAAAATACTGAGGATGGAAC	0.478		NaN											0	0	0	1	0	7	48				
TMEFF2	23671	broad.mit.edu	37	2	193049159	193049159	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:193049159C>T	uc002utc.2	-	3	727	c.333G>A	c.(331-333)CAG>CAA	p.Q111Q	TMEFF2_uc002utd.1_Silent_p.Q111Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	111	Kazal-like 1.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AACACTCATTCTGGTAGCTCT	0.473		NaN											0	0	0	1	0	14	54				
DNAH7	56171	broad.mit.edu	37	2	196834710	196834710	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:196834710G>C	uc002utj.3	-	17	2268	c.2167C>G	c.(2167-2169)CAA>GAA	p.Q723E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	723	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTCAGTATTTGAGCCTTTTTT	0.328		NaN											0	0	0	1	0	7	57				
STK17B	9262	broad.mit.edu	37	2	197004437	197004437	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197004437G>C	uc002utk.2	-	7	1067	c.743C>G	c.(742-744)TCT>TGT	p.S248C	STK17B_uc010fsh.2_Missense_Mutation_p.S248C	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	248	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTAACTTGAGAAATATTGAG	0.333		NaN											0	0	0	1	0	46	74				
ANKRD44	91526	broad.mit.edu	37	2	197865158	197865158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:197865158C>G	uc002uua.1	-	23	2506	c.2429G>C	c.(2428-2430)AGA>ACA	p.R810T	ANKRD44_uc002utz.3_Missense_Mutation_p.R542T	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	835							protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGTCATCTCTACAACTGAC	0.378		NaN											0	0	0	1	0	7	51				
SF3B1	23451	broad.mit.edu	37	2	198257807	198257807	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198257807T>C	uc002uue.2	-	24	3693	c.3645A>G	c.(3643-3645)GTA>GTG	p.V1215V		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1215					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATTGGGCCATACATAGTTCA	0.448		NaN											0	0	0	1	0	21	54				
SF3B1	23451	broad.mit.edu	37	2	198274635	198274635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198274635C>T	uc002uue.2	-	7	811	c.763G>A	c.(763-765)GAT>AAT	p.D255N		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	255	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGTGTAGGATCCCATATTTTT	0.572		NaN											0	0	0	1	0	26	130				
HSPD1	3329	broad.mit.edu	37	2	198358196	198358196	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:198358196C>A	uc002uui.2	-	7	858	c.721G>T	c.(721-723)GAT>TAT	p.D241Y	HSPD1_uc002uuj.2_Missense_Mutation_p.D239Y|HSPD1_uc010zgx.1_Missense_Mutation_p.D232Y|HSPD1_uc010fsm.2_Missense_Mutation_p.D52Y|HSPD1_uc002uuk.2_Missense_Mutation_p.D241Y	NM_002156	NP_002147	P10809	CH60_HUMAN	chaperonin	241					'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				0			Epithelial(96;0.225)			ACATAGGCATCCTGGAATTCA	0.343		NaN											1	0	5.01169e-05	1	5.22743e-05	17	50				
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:201761901C>G	uc002uwm.2	+	5	920	c.829C>G	c.(829-831)CAT>GAT	p.H277D	NIF3L1_uc002uwl.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwn.2_Missense_Mutation_p.H250D|NIF3L1_uc002uwo.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwp.2_Missense_Mutation_p.H277D|NIF3L1_uc002uwq.2_Intron	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	277					positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1						AAAACTATCTCATATTCGCTT	0.423		NaN											0	0	0	1	0	27	104				
ALS2CR12	130540	broad.mit.edu	37	2	202154187	202154187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202154187G>A	uc010ftg.2	-	14	1648	c.1204C>T	c.(1204-1206)CAT>TAT	p.H402Y	ALS2CR12_uc002uya.3_Missense_Mutation_p.H379Y|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	402	Potential.				regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CACTTCAGATGAATGTTCTCT	0.433		NaN											0	0	0	1	0	21	67				
CDK15	65061	broad.mit.edu	37	2	202700471	202700471	+	Missense_Mutation	SNP	C	C	G	rs61383268		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:202700471C>G	uc002uyt.2	+	8	885	c.836C>G	c.(835-837)TCT>TGT	p.S279C	CDK15_uc010ftm.2_Missense_Mutation_p.S144C|CDK15_uc002uys.2_Missense_Mutation_p.S228C|CDK15_uc010ftn.1_Missense_Mutation_p.S228C|CDK15_uc010fto.1_Missense_Mutation_p.S258C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	279	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GAATATTCCTCTGAGCTGGAC	0.468		NaN											0	0	0	1	0	17	47				
ALS2CR8	79800	broad.mit.edu	37	2	203831746	203831746	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:203831746A>G	uc002uzo.2	+	9	1158	c.878A>G	c.(877-879)AAA>AGA	p.K293R	ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zib.1_Missense_Mutation_p.K217R|ALS2CR8_uc010zic.1_Missense_Mutation_p.K205R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.K293R	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	293										large_intestine(1)|ovary(1)	2						CCAAGAAGAAAAGGTTTCCAG	0.408		NaN											0	0	0	1	0	23	122				
ZDBF2	57683	broad.mit.edu	37	2	207169584	207169584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:207169584C>T	uc002vbp.2	+	5	582	c.332C>T	c.(331-333)TCA>TTA	p.S111L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	111							nucleic acid binding|zinc ion binding			ovary(3)	3						TCCGAGGTTTCAGAACCTATT	0.448		NaN											0	0	0	1	0	19	28				
ARPC2	10109	broad.mit.edu	37	2	219114628	219114628	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:219114628G>C	uc002vhd.2	+	10	974	c.862G>C	c.(862-864)GAA>CAA	p.E288Q	ARPC2_uc002vhe.2_Missense_Mutation_p.E288Q|ARPC2_uc002vhf.2_Missense_Mutation_p.E174Q	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	288					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGAGAAAAAAGAAATGAAAAC	0.542		NaN											0	0	0	1	0	4	15				
DOCK10	55619	broad.mit.edu	37	2	225652012	225652012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:225652012C>G	uc010fwz.1	-	49	5760	c.5521G>C	c.(5521-5523)GAG>CAG	p.E1841Q	DOCK10_uc002vob.2_Missense_Mutation_p.E1835Q|DOCK10_uc002voa.2_Missense_Mutation_p.E497Q|DOCK10_uc002voc.2_Missense_Mutation_p.E662Q	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1841	DHR-2.						GTP binding			ovary(2)	2		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)		CGTTGTTTCTCAAAGACAGCA	0.368		NaN											0	0	0	1	0	20	110				
IRS1	3667	broad.mit.edu	37	2	227661897	227661897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:227661897G>A	uc002voh.3	-	1	1610	c.1558C>T	c.(1558-1560)CGG>TGG	p.R520W		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	520					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			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		TTTCGGAACCGATTATCCAGA	0.592		NaN									OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	12	65				
MFF	56947	broad.mit.edu	37	2	228220436	228220436	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:228220436G>C	uc002vos.2	+	10	1274	c.856G>C	c.(856-858)GAT>CAT	p.D286H	MFF_uc002vot.2_Missense_Mutation_p.D235H|MFF_uc002vou.2_Missense_Mutation_p.D208H|MFF_uc002vov.2_Missense_Mutation_p.D182H|MFF_uc002vow.2_Missense_Mutation_p.D187H|MFF_uc002vox.2_Missense_Mutation_p.D162H|MFF_uc002voy.2_Missense_Mutation_p.D286H|MFF_uc002voz.2_Missense_Mutation_p.D162H|MFF_uc002vpa.2_Missense_Mutation_p.D74H	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	286	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						AGGAACGTCAGATGACCTGAC	0.323		NaN											0	0	0	1	0	65	104				
TRIP12	9320	broad.mit.edu	37	2	230723948	230723948	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:230723948C>A	uc002vpw.1	-	3	550	c.441G>T	c.(439-441)CAG>CAT	p.Q147H	TRIP12_uc002vpx.1_Missense_Mutation_p.Q189H|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.Q147H	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	147					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		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)		TTTTTCTTTTCTGACTCCGTG	0.488		NaN											1	0	4.22769e-11	1	4.7099e-11	27	97				
ARMC9	80210	broad.mit.edu	37	2	232146826	232146826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:232146826C>T	uc002vrq.3	+	17	1718	c.1606C>T	c.(1606-1608)CGT>TGT	p.R536C	ARMC9_uc002vrp.3_Missense_Mutation_p.R536C|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	536							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCCATCCATTCGTGAGGAAGC	0.428		NaN											0	0	0	1	0	23	76				
CHRND	1144	broad.mit.edu	37	2	233398643	233398643	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233398643C>G	uc002vsw.2	+	10	1054	c.1050C>G	c.(1048-1050)CTC>CTG	p.L350L	CHRND_uc010zmg.1_Silent_p.L335L|CHRND_uc010fyc.2_Silent_p.L223L|CHRND_uc010zmh.1_Silent_p.L156L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	350	Cytoplasmic (Potential).				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			ovary(1)|breast(1)|skin(1)	3		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)		GGCCCCAGCTCTTCCTGGAGA	0.453		NaN											0	0	0	1	0	17	66				
CHRND	1144	broad.mit.edu	37	2	233399028	233399028	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233399028G>A	uc002vsw.2	+	11	1351	c.1347G>A	c.(1345-1347)ATG>ATA	p.M449I	CHRND_uc010zmg.1_Missense_Mutation_p.M434I|CHRND_uc010fyc.2_Missense_Mutation_p.M322I|CHRND_uc010zmh.1_Missense_Mutation_p.M255I	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	449	Cytoplasmic (Potential).				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			ovary(1)|breast(1)|skin(1)	3		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)		TTAACCACATGAGGGACCAGA	0.502		NaN											0	0	0	1	0	12	39				
INPP5D	3635	broad.mit.edu	37	2	233986856	233986856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:233986856G>A	uc010zmo.1	+	3	391	c.238G>A	c.(238-240)GAC>AAC	p.D80N	INPP5D_uc010zmp.1_Missense_Mutation_p.D80N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	80	SH2.				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			ovary(1)|central_nervous_system(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)		CACCAAGCTGGACCAGCTCAT	0.522		NaN											0	0	0	1	0	12	81				
COL6A3	1293	broad.mit.edu	37	2	238280791	238280791	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:238280791G>C	uc002vwl.2	-	9	4154	c.3869C>G	c.(3868-3870)TCC>TGC	p.S1290C	COL6A3_uc002vwo.2_Missense_Mutation_p.S1084C|COL6A3_uc010znj.1_Missense_Mutation_p.S683C|COL6A3_uc002vwq.2_Missense_Mutation_p.S1084C|COL6A3_uc002vwr.2_Missense_Mutation_p.S883C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1290	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		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)		ATCCTTGCTGGAATGGGCGTT	0.607		NaN											0	0	0	1	0	15	30				
NDUFA10	4705	broad.mit.edu	37	2	240958025	240958025	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:240958025G>A	uc002vyn.2	-	4	572	c.492C>T	c.(490-492)TTC>TTT	p.F164F	NDUFA10_uc010fzc.1_Silent_p.F164F|NDUFA10_uc002vyo.1_Silent_p.F164F|NDUFA10_uc002vyp.2_Silent_p.F164F	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	164					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CAAAGTCACTGAAGATGGAGC	0.473		NaN											0	0	0	1	0	5	39				
ANO7	50636	broad.mit.edu	37	2	242157737	242157737	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242157737C>T	uc002wax.2	+	21	2527	c.2424C>T	c.(2422-2424)CTC>CTT	p.L808L		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	808	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GCGGCTTCCTCAACTTCACGC	0.741		NaN											0	0	0	1	0	3	4				
HDLBP	3069	broad.mit.edu	37	2	242176173	242176173	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242176173C>G	uc002waz.2	-	21	2989	c.2761G>C	c.(2761-2763)GAG>CAG	p.E921Q	HDLBP_uc002wba.2_Missense_Mutation_p.E921Q|HDLBP_uc002wbb.2_Missense_Mutation_p.E873Q	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	921	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACAACTGGCTCTGTACTGTGA	0.527		NaN											0	0	0	1	0	26	51				
C2orf85	285093	broad.mit.edu	37	2	242815144	242815144	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr2:242815144C>T	uc010fzu.1	+	2	1460	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	479						integral to membrane				ovary(1)	1						TCGCAGTCTTCGATGTCATAA	0.632		NaN											0	0	0	1	0	15	73				
JAG1	182	broad.mit.edu	37	20	10653409	10653409	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:10653409G>A	uc002wnw.2	-	2	843	c.327C>T	c.(325-327)CTC>CTT	p.L109L		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	109	Extracellular (Potential).				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			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						GGCTGGCCTTGAGGTTGAAGG	0.662		NaN							Alagille_Syndrome				0	0	0	1	0	11	20				
RBBP9	10741	broad.mit.edu	37	20	18477724	18477724	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:18477724C>T	uc002wqy.2	-	1	164	c.88G>A	c.(88-90)GAG>AAG	p.E30K		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	30						cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TTCTCCAGCTCCTTTTTCACC	0.612		NaN											0	0	0	1	0	4	32				
C20orf26	26074	broad.mit.edu	37	20	20177348	20177348	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:20177348G>T	uc002wru.2	+	16	1801	c.1725G>T	c.(1723-1725)CTG>CTT	p.L575L	C20orf26_uc010zse.1_Silent_p.L555L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	575										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		AGTTCTTTCTGAAGGAGATCC	0.468		NaN											1	0	2.79863e-10	1	3.10412e-10	27	47				
ASXL1	171023	broad.mit.edu	37	20	31021535	31021535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31021535C>T	uc002wxs.2	+	11	1960	c.1534C>T	c.(1534-1536)CAG>TAG	p.Q512*	ASXL1_uc010geb.2_Nonsense_Mutation_p.Q403*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	512					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TAGCCTGCCTCAGGAAACTGT	0.547		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	34	167				
ASXL1	171023	broad.mit.edu	37	20	31023784	31023784	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:31023784G>C	uc002wxs.2	+	12	3695	c.3269G>C	c.(3268-3270)AGA>ACA	p.R1090T	ASXL1_uc010geb.2_Missense_Mutation_p.R981T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1090					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TACCAGCCAAGAGCCGTGTGC	0.572		NaN	F|N|Mis		MDS|CMML								0	0	0	1	0	20	73				
GSS	2937	broad.mit.edu	37	20	33530781	33530781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:33530781G>A	uc002xbg.2	-	4	384	c.304C>T	c.(304-306)CGT>TGT	p.R102C	GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.R33C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	glutathione synthetase	102					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCAAAGAGACGAGCGGTAAAG	0.478		NaN											0	0	0	1	0	5	9				
KIAA0406	9675	broad.mit.edu	37	20	36634718	36634718	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:36634718C>G	uc002xhl.2	-	4	2593	c.2384G>C	c.(2383-2385)AGA>ACA	p.R795T	KIAA0406_uc002xhm.2_Missense_Mutation_p.R795T	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	795							binding				0		Myeloproliferative disorder(115;0.00874)				AGCTGCTGGTCTTTGGTTCAA	0.463		NaN											0	0	0	1	0	52	73				
ZHX3	23051	broad.mit.edu	37	20	39832521	39832521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39832521C>A	uc002xjs.1	-	3	1414	c.1036G>T	c.(1036-1038)GAA>TAA	p.E346*	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xju.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.E346*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.E346*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.E346*	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	346	Homeobox 1.|Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TTGAGCTGTTCTTCTGGATAC	0.507		NaN											1	0	3.08376e-08	1	3.34384e-08	25	42				
EMILIN3	90187	broad.mit.edu	37	20	39990162	39990162	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:39990162G>C	uc002xjy.1	-	4	2271	c.2047C>G	c.(2047-2049)CAG>GAG	p.Q683E		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	683						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACTGTGTGCTGAAGTTTCTGG	0.657		NaN											0	0	0	1	0	5	24				
PLTP	5360	broad.mit.edu	37	20	44538206	44538206	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44538206G>A	uc002xqn.1	-	5	514	c.434C>T	c.(433-435)TCC>TTC	p.S145F	PLTP_uc002xql.1_Missense_Mutation_p.S57F|PLTP_uc002xqm.1_Missense_Mutation_p.S165F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Missense_Mutation_p.S145F|PLTP_uc002xqq.1_Missense_Mutation_p.S114F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Missense_Mutation_p.S145F	NM_006227	NP_006218	P55058	PLTP_HUMAN	phospholipid transfer protein isoform a	145					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGCCTGGCAGGAGACATTGGA	0.622		NaN											0	0	0	1	0	17	130				
PCIF1	63935	broad.mit.edu	37	20	44567904	44567904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44567904C>T	uc002xqs.2	+	4	489	c.175C>T	c.(175-177)CGT>TGT	p.R59C		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	59	WW.					nucleus				skin(1)	1						GAGGGAGAATCGTCCCTACTA	0.632		NaN											0	0	0	1	0	16	91				
ZNF335	63925	broad.mit.edu	37	20	44578480	44578480	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:44578480C>T	uc002xqw.2	-	24	3751	c.3628G>A	c.(3628-3630)GAT>AAT	p.D1210N	ZNF335_uc002xqv.2_Missense_Mutation_p.D322N|ZNF335_uc010zxk.1_Missense_Mutation_p.D1055N	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1210	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTCTGGCCATCTGCCGTGGTG	0.582		NaN											0	0	0	1	0	16	99				
SLC13A3	64849	broad.mit.edu	37	20	45192108	45192108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:45192108G>T	uc002xsf.1	-	12	1615	c.1577C>A	c.(1576-1578)TCA>TAA	p.S526*	SLC13A3_uc010ghn.1_Nonsense_Mutation_p.S495*|SLC13A3_uc010zxw.1_Nonsense_Mutation_p.S476*|SLC13A3_uc002xsg.1_Nonsense_Mutation_p.S479*|SLC13A3_uc010gho.1_Nonsense_Mutation_p.S444*|SLC13A3_uc010zxx.1_Nonsense_Mutation_p.S428*|SLC13A3_uc002xse.1_Nonsense_Mutation_p.S17*|SLC13A3_uc010ghm.1_Nonsense_Mutation_p.S113*|SLC13A3_uc010zxv.1_Nonsense_Mutation_p.S111*	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	526	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGGGCGTTGAGACCGGGAG	0.617		NaN											1	0	1.5842e-08	1	1.72077e-08	13	23				
NCOA3	8202	broad.mit.edu	37	20	46267858	46267858	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:46267858C>G	uc002xtk.2	+	14	2824	c.2619C>G	c.(2617-2619)ATC>ATG	p.I873M	NCOA3_uc010ght.1_Missense_Mutation_p.I883M|NCOA3_uc002xtl.2_Missense_Mutation_p.I873M|NCOA3_uc002xtm.2_Missense_Mutation_p.I873M|NCOA3_uc002xtn.2_Missense_Mutation_p.I873M|NCOA3_uc010zyc.1_Missense_Mutation_p.I668M	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	873					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			ovary(3)|lung(1)|skin(1)	5						TAAAAAATATCAGTGCTTTCC	0.438		NaN											0	0	0	1	0	22	69				
DDX27	55661	broad.mit.edu	37	20	47859135	47859135	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47859135G>C	uc002xuh.2	+	19	2275	c.2214G>C	c.(2212-2214)AAG>AAC	p.K738N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	738						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACAGCCAAGAAGCAAAAGC	0.433		NaN											0	0	0	1	0	21	125				
ZNFX1	57169	broad.mit.edu	37	20	47888002	47888002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:47888002C>G	uc002xui.2	-	3	594	c.347G>C	c.(346-348)AGA>ACA	p.R116T		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	116							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGTGGTCTGCGGTTCCT	0.547		NaN											0	0	0	1	0	60	243				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699389	48699389	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:48699389G>A	uc002xvf.2	-	8	1190	c.1029C>T	c.(1027-1029)GTC>GTT	p.V343V	UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_Silent_p.V120V|UBE2V1_uc002xvc.2_Silent_p.V76V|UBE2V1_uc002xvd.2_Silent_p.V143V|UBE2V1_uc002xve.2_Silent_p.V143V	NM_199203	NP_954673	Q13404	UB2V1_HUMAN	TMEM189-UBE2V1 readthrough transcript	120					cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell 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|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCTCTTGCAGGACAACTTTGA	0.418		NaN											0	0	0	1	0	18	73				
MC3R	4159	broad.mit.edu	37	20	54824451	54824451	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:54824451G>C	uc002xxb.2	+	1	664	c.552G>C	c.(550-552)GAG>GAC	p.E184D		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	221	Extracellular (Potential).				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			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TCTACTCGGAGAGCAAAATGG	0.572		NaN											0	0	0	1	0	11	91				
GNAS	2778	broad.mit.edu	37	20	57484238	57484238	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:57484238G>A	uc002xzw.2	+	7	2766	c.2481G>A	c.(2479-2481)GTG>GTA	p.V827V	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.V125V|GNAS_uc002xzx.2_Silent_p.V125V|GNAS_uc010gjr.2_Silent_p.V75V|GNAS_uc002xzy.2_Silent_p.V110V|GNAS_uc002yaa.2_Silent_p.V170V|GNAS_uc010zzt.1_Silent_p.V185V|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.V75V|GNAS_uc002yae.2_Silent_p.V109V	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	184					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			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGATCGACGTGATCAAGCAGG	0.507		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	1	0	58	249				
TAF4	6874	broad.mit.edu	37	20	60575275	60575275	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:60575275C>A	uc002ybs.2	-	11	2692	c.2692G>T	c.(2692-2694)GTA>TTA	p.V898L		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	898					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TAACTTACTACATCTGGATGT	0.348		NaN											1	0	6.42651e-13	1	7.25574e-13	11	95				
DIDO1	11083	broad.mit.edu	37	20	61512984	61512984	+	Missense_Mutation	SNP	C	C	G	rs142722598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61512984C>G	uc002ydr.1	-	16	4588	c.4324G>C	c.(4324-4326)GAT>CAT	p.D1442H	DIDO1_uc002yds.1_Missense_Mutation_p.D1442H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1442					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGCAGGTCATCAACAGTCACT	0.627		NaN											0	0	0	1	0	46	92				
COL20A1	57642	broad.mit.edu	37	20	61936863	61936863	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:61936863C>T	uc011aau.1	+	4	388	c.288C>T	c.(286-288)TTC>TTT	p.F96F	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	96	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TGCAGATCTTCGAGCTCACTG	0.627		NaN											0	0	0	1	0	7	7				
PRIC285	85441	broad.mit.edu	37	20	62200734	62200734	+	Silent	SNP	G	G	A	rs147054984		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62200734G>A	uc002yfm.2	-	5	1747	c.855C>T	c.(853-855)CTC>CTT	p.L285L	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	285					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAGGGTGGCCGAGCGCCAGAT	0.692		NaN											0	0	0	1	0	5	14				
TCEA2	6919	broad.mit.edu	37	20	62701842	62701842	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr20:62701842G>C	uc011abs.1	+	8	1329	c.673G>C	c.(673-675)GAG>CAG	p.E225Q	TCEA2_uc011abr.1_Missense_Mutation_p.E198Q|TCEA2_uc010gks.2_Missense_Mutation_p.E226Q	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	225	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGTGCTCCAGGAGATGGCCAG	0.642		NaN											0	0	0	1	0	18	31				
SOD1	6647	broad.mit.edu	37	21	33039654	33039654	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:33039654C>G	uc002ypa.2	+	4	471	c.323C>G	c.(322-324)TCA>TGA	p.S108*	SOD1_uc002ypb.2_Nonsense_Mutation_p.S89*|SOD1_uc002ypc.2_RNA	NM_000454	NP_000445	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	108					activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding				0						ATCTCACTCTCAGGAGACCAT	0.403		NaN											0	0	0	1	0	9	81				
DSCAM	1826	broad.mit.edu	37	21	41496164	41496164	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:41496164G>A	uc002yyq.1	-	20	4106	c.3654C>T	c.(3652-3654)ATC>ATT	p.I1218I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1218	Fibronectin type-III 4.|Extracellular (Potential).				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			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTTCGGATGATGCCGTTCA	0.572		NaN											0	0	0	1	0	34	110				
RRP1B	23076	broad.mit.edu	37	21	45107624	45107624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:45107624G>T	uc002zdk.2	+	13	1483	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	RRP1B_uc002zdl.2_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	457					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CACTGGGGAGGAGAGTGGCTC	0.637		NaN											1	0	3.41278e-10	1	3.78198e-10	18	41				
ADARB1	104	broad.mit.edu	37	21	46603308	46603308	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:46603308C>G	uc002zgy.2	+	7	1714	c.1279C>G	c.(1279-1281)CAG>GAG	p.Q427E	ADARB1_uc002zgr.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.Q427E|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.Q427E|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	427	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		ATCCATCTTTCAGAAATCAGA	0.378		NaN											0	0	0	1	0	5	33				
MCM3AP	8888	broad.mit.edu	37	21	47663416	47663416	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr21:47663416C>T	uc002zir.1	-	24	5295	c.5259G>A	c.(5257-5259)CTG>CTA	p.L1753L	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.L248L|MCM3AP_uc002zip.1_Silent_p.L494L|MCM3AP_uc002ziq.1_Silent_p.L680L|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1753					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					TCCAGTCTCTCAGCTTGTGGT	0.552		NaN											0	0	0	1	0	31	153				
CDC45	8318	broad.mit.edu	37	22	19506422	19506422	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19506422C>A	uc002zpr.2	+	18	1768	c.1692C>A	c.(1690-1692)CTC>CTA	p.L564L	CDC45_uc011aha.1_Silent_p.L596L|CDC45_uc002zps.2_Silent_p.L565L|CDC45_uc002zpt.2_Silent_p.L518L	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	564					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						TTATTTCCCTCCTGTCCTAGG	0.557		NaN											1	0	1.55469e-16	1	1.77277e-16	22	66				
SEPT5	5413	broad.mit.edu	37	22	19709228	19709228	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19709228G>T	uc002zpv.1	+	9	908	c.783G>T	c.(781-783)CGG>CGT	p.R261R	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	261					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					AGCGGGTCCGGGGCCGACTGT	0.682		NaN											1	0	4.7546e-09	1	5.20035e-09	16	40				
C22orf29	79680	broad.mit.edu	37	22	19839388	19839388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:19839388G>A	uc002zqg.2	-	2	996	c.397C>T	c.(397-399)CAG>TAG	p.Q133*	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Nonsense_Mutation_p.Q133*|C22orf29_uc002zqi.2_Nonsense_Mutation_p.Q133*|C22orf29_uc010grt.1_Intron	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	hypothetical protein LOC79680	133											0	Colorectal(54;0.0993)					ATGTTGTCCTGATAGTGCTCA	0.622		NaN											0	0	0	1	0	18	88				
GGT1	2678	broad.mit.edu	37	22	25016336	25016336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25016336G>T	uc003aan.1	+	8	911	c.424G>T	c.(424-426)GAG>TAG	p.E142*	GGT1_uc003aas.1_Nonsense_Mutation_p.E142*|GGT1_uc003aat.1_Nonsense_Mutation_p.E142*|GGT1_uc003aau.1_Nonsense_Mutation_p.E142*|GGT1_uc003aav.1_Nonsense_Mutation_p.E142*|GGT1_uc003aaw.1_Nonsense_Mutation_p.E142*|GGT1_uc003aax.1_Nonsense_Mutation_p.E142*	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	142	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CCGAGGCTATGAGCTGGCACA	0.687		NaN											1	0	0.000602214	1	0.000619927	5	26				
SGSM1	129049	broad.mit.edu	37	22	25297899	25297899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:25297899G>A	uc003abg.2	+	21	3032	c.2875G>A	c.(2875-2877)GAG>AAG	p.E959K	SGSM1_uc003abh.2_Missense_Mutation_p.E898K|SGSM1_uc010guu.1_Missense_Mutation_p.E904K|SGSM1_uc003abj.2_Missense_Mutation_p.E843K|SGSM1_uc003abi.1_Missense_Mutation_p.E879K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	959	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCCAACTTGGAGAAGCTGCG	0.622		NaN											0	0	0	1	0	9	4				
SF3A1	10291	broad.mit.edu	37	22	30733035	30733035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:30733035C>A	uc003ahl.2	-	13	2218	c.2086G>T	c.(2086-2088)GAG>TAG	p.E696*		NM_005877	NP_005868	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa isoform 1	696					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			ovary(3)|large_intestine(1)|pancreas(1)	5						CGCAGGAACTCCTCCTCTGGC	0.557		NaN											1	0	4.87955e-14	1	5.52899e-14	24	70				
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:31722980G>T	uc003akq.2	-	5	2622	c.1961C>A	c.(1960-1962)TCT>TAT	p.S654Y	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.S608Y	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CTCGAGGAGAGACATGTTCTG	0.567		NaN											1	0	2.27731e-05	1	2.38323e-05	21	79				
C22orf24	25775	broad.mit.edu	37	22	32334043	32334043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:32334043G>C	uc003aly.2	-	2	177	c.10C>G	c.(10-12)CAA>GAA	p.Q4E	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	4						integral to membrane				central_nervous_system(1)	1						GTATCCTCTTGAGTTGTCATG	0.328		NaN											0	0	0	1	0	47	194				
APOL5	80831	broad.mit.edu	37	22	36123215	36123215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36123215G>C	uc003aof.2	+	3	1100	c.1100G>C	c.(1099-1101)CGA>CCA	p.R367P		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	367					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						AGGGCTGTTCGAGGATCCCGT	0.607		NaN											0	0	0	1	0	9	52				
MYH9	4627	broad.mit.edu	37	22	36684830	36684830	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36684830C>A	uc003apg.2	-	33	4944	c.4713G>T	c.(4711-4713)CGG>CGT	p.R1571R		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1571	Potential.				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			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGCAGGTCCCGCTCGAACT	0.642		NaN	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				1	0	2.27731e-05	1	2.38323e-05	22	139				
FOXRED2	80020	broad.mit.edu	37	22	36894043	36894043	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:36894043C>T	uc003apn.3	-	5	1485	c.1377G>A	c.(1375-1377)TTG>TTA	p.L459L	FOXRED2_uc003apm.3_Silent_p.L11L|FOXRED2_uc003apo.3_Silent_p.L459L|FOXRED2_uc003app.3_Silent_p.L459L	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	459					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						CTCACTCCTTCAACAGGATGA	0.602		NaN											0	0	0	1	0	19	53				
MICALL1	85377	broad.mit.edu	37	22	38323565	38323565	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323565C>G	uc003aui.2	+	9	1697	c.1613C>G	c.(1612-1614)TCA>TGA	p.S538*		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	538	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					AAGAGCTCCTCAGAGCCTGCT	0.637		NaN											0	0	0	1	0	14	69				
MICALL1	85377	broad.mit.edu	37	22	38323678	38323678	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:38323678C>G	uc003aui.2	+	9	1810	c.1726C>G	c.(1726-1728)CAA>GAA	p.Q576E		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	576	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					ACAAATGCCTCAAGCCAGCCC	0.642		NaN											0	0	0	1	0	24	130				
APOBEC3D	140564	broad.mit.edu	37	22	39425374	39425374	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39425374G>A	uc011aoe.1	+	5	666	c.612G>A	c.(610-612)CCG>CCA	p.P204P	APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.P204P|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522		NaN											0	0	0	1	0	23	51				
APOBEC3G	60489	broad.mit.edu	37	22	39477087	39477087	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39477087C>T	uc003awx.2	+	3	663	c.321C>T	c.(319-321)TTC>TTT	p.F107F	APOBEC3G_uc003awy.2_Silent_p.F40F	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	107					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			central_nervous_system(1)|skin(1)	2	Melanoma(58;0.04)					TGGCCACGTTCCTGGCCGAGG	0.562		NaN											0	0	0	1	0	13	87				
RPL3	6122	broad.mit.edu	37	22	39710727	39710727	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:39710727C>T	uc003axi.2	-	6	881	c.813G>A	c.(811-813)CAG>CAA	p.Q271Q	RPL3_uc003axh.2_Silent_p.Q222Q|RPL3_uc003axj.2_Silent_p.Q119Q|RPL3_uc010gxx.2_Silent_p.Q219Q|RPL3_uc003axg.2_Silent_p.Q219Q|RPL3_uc003axk.1_Silent_p.Q119Q	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	271					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					GGTAGCCTTTCTGCCCAGCGC	0.622		NaN											0	0	0	1	0	9	31				
CACNA1I	8911	broad.mit.edu	37	22	40058011	40058011	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:40058011C>T	uc003ayc.2	+	17	2943	c.2943C>T	c.(2941-2943)AGC>AGT	p.S981S	CACNA1I_uc003ayd.2_Silent_p.S946S|CACNA1I_uc003aye.2_Silent_p.S896S|CACNA1I_uc003ayf.2_Silent_p.S861S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	981	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGGGCCGCAGCGCGGCCTGGG	0.721		NaN											0	0	0	1	0	3	4				
WBP2NL	164684	broad.mit.edu	37	22	42422777	42422777	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:42422777C>G	uc011ape.1	+	7	538	c.522C>G	c.(520-522)GTC>GTG	p.V174V	WBP2NL_uc003bbt.2_Silent_p.V174V|WBP2NL_uc011apk.1_Silent_p.V46V|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	174					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2						CAGTTATTGTCTATGGAGCCC	0.468		NaN											0	0	0	1	0	51	85				
ARFGAP3	26286	broad.mit.edu	37	22	43230283	43230283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43230283C>A	uc003bdd.2	-	5	662	c.442G>T	c.(442-444)GAG>TAG	p.E148*	ARFGAP3_uc010gzf.2_Nonsense_Mutation_p.E104*|ARFGAP3_uc011apu.1_Intron	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating	148					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(1)	1						AAATCTTCCTCCTTTGGTGGA	0.423		NaN											1	0	6.00099e-30	1	6.94967e-30	70	110				
TTLL1	25809	broad.mit.edu	37	22	43447825	43447825	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:43447825C>T	uc003bdi.2	-	9	1201	c.960G>A	c.(958-960)CTG>CTA	p.L320L	TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Silent_p.L206L|TTLL1_uc003bdh.2_Silent_p.L282L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	320	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCCAGGGCTTCAGCTTGTCGT	0.572		NaN											0	0	0	1	0	17	59				
SMC1B	27127	broad.mit.edu	37	22	45785753	45785753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:45785753G>A	uc003bgc.2	-	10	1622	c.1570C>T	c.(1570-1572)CAT>TAT	p.H524Y	SMC1B_uc003bgd.2_Missense_Mutation_p.H524Y|SMC1B_uc003bge.1_Missense_Mutation_p.H307Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	524	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAATAGGATGACACAGGTCA	0.338		NaN											0	0	0	1	0	36	73				
WNT7B	7477	broad.mit.edu	37	22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46327115C>T	uc003bgo.2	-	3	807	c.433G>A	c.(433-435)GAG>AAG	p.E145K	WNT7B_uc010haa.2_Missense_Mutation_p.E149K	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	145					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687		NaN											0	0	0	1	0	15	69				
PKDREJ	10343	broad.mit.edu	37	22	46655581	46655581	+	Silent	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:46655581A>G	uc003bhh.2	-	1	3639	c.3639T>C	c.(3637-3639)CAT>CAC	p.H1213H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1213	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCCCCGAAGATGCTGGTCCA	0.438		NaN											0	0	0	1	0	24	117				
PLXNB2	23654	broad.mit.edu	37	22	50719197	50719197	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr22:50719197C>T	uc003bkv.3	-	24	4075	c.3969G>A	c.(3967-3969)CTG>CTA	p.L1323L	PLXNB2_uc003bkt.1_Silent_p.L115L|PLXNB2_uc003bku.1_Silent_p.L308L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1323	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		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)		ACTTGCTGTTCAGCAGGTTGG	0.657		NaN											0	0	0	1	0	8	29				
BHLHE40	8553	broad.mit.edu	37	3	5025300	5025300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:5025300C>T	uc003bqf.2	+	5	1469	c.1162C>T	c.(1162-1164)CAT>TAT	p.H388Y	BHLHE40_uc011asw.1_Missense_Mutation_p.H248Y	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	388						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTGCCAGCTCATCCGTCCGT	0.547		NaN											0	0	0	1	0	67	84				
RPL32	6161	broad.mit.edu	37	3	12877707	12877707	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:12877707C>T	uc003bxl.2	-	3	507	c.294G>A	c.(292-294)GAG>GAA	p.E98E	RPL32_uc003bxm.2_Silent_p.E98E|RPL32_uc003bxn.2_Silent_p.E98E	NM_001007074	NP_001007075	P62910	RL32_HUMAN	ribosomal protein L32	98					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			ovary(1)	1						TGTGAGCGATCTCGGCACAGT	0.522		NaN											0	0	0	1	0	37	45				
FBLN2	2199	broad.mit.edu	37	3	13670693	13670693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:13670693C>T	uc011avb.1	+	12	2727	c.2602C>T	c.(2602-2604)CGC>TGC	p.R868C	FBLN2_uc011auz.1_Missense_Mutation_p.R894C|FBLN2_uc011ava.1_Missense_Mutation_p.R915C|FBLN2_uc011avc.1_Missense_Mutation_p.R915C	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	868	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGGTGTGCACCGCTGCGGTGA	0.652		NaN											0	0	0	1	0	12	46				
XPC	7508	broad.mit.edu	37	3	14190071	14190071	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:14190071G>A	uc011ave.1	-	13	2515	c.2411C>T	c.(2410-2412)TCC>TTC	p.S804F	XPC_uc011avf.1_Missense_Mutation_p.S611F|XPC_uc011avg.1_Missense_Mutation_p.S767F	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	804	DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						CACGGGATGGGAGTAGCCGCC	0.612		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				0	0	0	1	0	5	54				
EAF1	85403	broad.mit.edu	37	3	15477906	15477906	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477906C>G	uc003bzu.2	+	5	807	c.584C>G	c.(583-585)TCT>TGT	p.S195C	EAF1_uc011avq.1_Missense_Mutation_p.S94C	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	195	Ser-rich.|Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						GGGAGCAGCTCTTCAGACTCT	0.532		NaN											0	0	0	1	0	35	22				
EAF1	85403	broad.mit.edu	37	3	15477986	15477986	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:15477986C>T	uc003bzu.2	+	5	887	c.664C>T	c.(664-666)CCG>TCG	p.P222S	EAF1_uc011avq.1_Missense_Mutation_p.P121S	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						AGCCTCTCCTCCGCAGCCTTC	0.587		NaN											0	0	0	1	0	68	39				
NEK10	152110	broad.mit.edu	37	3	27233641	27233641	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:27233641G>C	uc010hfk.2	-	5	549	c.320C>G	c.(319-321)TCT>TGT	p.S107C	NEK10_uc003cds.1_Missense_Mutation_p.S192C|NEK10_uc010hfj.2_Missense_Mutation_p.S107C			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	795							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						CTGGGATGTAGATAAGTTGTC	0.433		NaN											0	0	0	1	0	29	69				
UBP1	7342	broad.mit.edu	37	3	33467109	33467109	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:33467109C>T	uc003cfq.3	-	2	768	c.238G>A	c.(238-240)GAT>AAT	p.D80N	UBP1_uc003cfr.3_Missense_Mutation_p.D80N|UBP1_uc010hga.2_Missense_Mutation_p.D80N	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a) isoform a	80					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			kidney(2)	2						AGCGTTTCATCATGCAGTTTT	0.403		NaN											0	0	0	1	0	17	18				
ITGA9	3680	broad.mit.edu	37	3	37574872	37574872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:37574872C>T	uc003chd.2	+	14	1494	c.1441C>T	c.(1441-1443)CAG>TAG	p.Q481*	ITGA9_uc003chc.2_Nonsense_Mutation_p.Q481*	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	481	Extracellular (Potential).				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CACAGCGCCTCAGTGTCACGA	0.557		NaN											0	0	0	1	0	9	34				
DLEC1	9940	broad.mit.edu	37	3	38139354	38139354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38139354G>A	uc003cho.1	+	18	2706	c.2685G>A	c.(2683-2685)ATG>ATA	p.M895I	DLEC1_uc003chp.1_Missense_Mutation_p.M895I|DLEC1_uc010hgv.1_Missense_Mutation_p.M895I|DLEC1_uc003chr.1_Missense_Mutation_p.M1I|DLEC1_uc010hgx.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	895					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGGCGCATGAAGGAGAGCC	0.597		NaN											0	0	0	1	0	13	51				
SLC22A14	9389	broad.mit.edu	37	3	38359724	38359724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:38359724C>G	uc010hhc.1	+	11	1811	c.1769C>G	c.(1768-1770)TCA>TGA	p.S590*	SLC22A14_uc003cib.2_Nonsense_Mutation_p.S590*|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	590	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AAGGAAACATCATCTGATGAT	0.488		NaN											0	0	0	1	0	21	109				
EIF1B	10289	broad.mit.edu	37	3	40352532	40352532	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:40352532G>A	uc003ckc.2	+	2	440	c.180G>A	c.(178-180)GTG>GTA	p.V60V	uc003ckb.2_5'Flank	NM_005875	NP_005866	O60739	EIF1B_HUMAN	translation factor sui1 homolog	60					regulation of translational initiation		protein binding|translation initiation factor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAACTTGTGAAAGCTTTCA	0.398		NaN											0	0	0	1	0	12	76				
LARS2	23395	broad.mit.edu	37	3	45441783	45441783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45441783C>G	uc003cop.1	+	4	466	c.281C>G	c.(280-282)TCT>TGT	p.S94C	LARS2_uc010hit.1_Intron	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	94	HIGH region.				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTTATCCTTCTGGTAAGCTG	0.463		NaN											0	0	0	1	0	34	79				
LZTFL1	54585	broad.mit.edu	37	3	45872601	45872601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:45872601C>G	uc003cox.1	-	6	624	c.486G>C	c.(484-486)GAG>GAC	p.E162D	LZTFL1_uc003coy.1_Missense_Mutation_p.E145D|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	162	Potential.										0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACTTCAATTTCTCATTCTCTT	0.224		NaN											0	0	0	1	0	6	31				
SCAP	22937	broad.mit.edu	37	3	47459204	47459204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:47459204G>C	uc003crh.1	-	17	2815	c.2560C>G	c.(2560-2562)CTG>GTG	p.L854V	SCAP_uc011baz.1_Missense_Mutation_p.L598V|SCAP_uc003crg.2_Missense_Mutation_p.L461V	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	854	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).				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			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTGTCTCAGGGGAGGGCTG	0.657		NaN											0	0	0	1	0	5	15				
P4HTM	54681	broad.mit.edu	37	3	49040020	49040020	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49040020G>T	uc003cvg.2	+	4	1064	c.715G>T	c.(715-717)GAT>TAT	p.D239Y	P4HTM_uc003cvh.2_Missense_Mutation_p.D239Y|P4HTM_uc010hkm.1_Missense_Mutation_p.D125Y	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	239	Lumenal (Potential).|EF-hand 2.|2 (Potential).					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	GGCTGACCCTGATGGTGACGG	0.562		NaN											1	0	2.27111e-07	1	2.43748e-07	13	72				
DALRD3	55152	broad.mit.edu	37	3	49054900	49054900	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49054900T>C	uc003cvk.1	-	4	785	c.765A>G	c.(763-765)CTA>CTG	p.L255L	DALRD3_uc003cvl.1_Silent_p.L255L|DALRD3_uc003cvm.1_Silent_p.L88L|DALRD3_uc010hko.1_Silent_p.L88L|DALRD3_uc011bca.1_Silent_p.L255L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	255					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAATGCCATAGAGCCTCTT	0.527		NaN											0	0	0	1	0	16	26				
QRICH1	54870	broad.mit.edu	37	3	49094851	49094851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49094851G>A	uc010hkq.2	-	4	1078	c.782C>T	c.(781-783)TCA>TTA	p.S261L	QRICH1_uc003cvu.2_Missense_Mutation_p.S261L|QRICH1_uc003cvv.2_Missense_Mutation_p.S261L	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	261	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGGCTGCCCTGAGATGGCGTA	0.612		NaN											0	0	0	1	0	11	57				
C3orf62	375341	broad.mit.edu	37	3	49314142	49314142	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49314142G>A	uc003cwn.2	-	1	367	c.164C>T	c.(163-165)TCC>TTC	p.S55F	C3orf62_uc003cwm.2_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	55											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGAGAAGGAGAGCGGCGC	0.587		NaN											0	0	0	1	0	13	54				
GMPPB	29925	broad.mit.edu	37	3	49759286	49759286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:49759286C>T	uc003cxk.1	-	9	1207	c.982G>A	c.(982-984)GAG>AAG	p.E328K	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.E355K	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	328					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				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGACGTCCTCACCCAGCACT	0.597		NaN											0	0	0	1	0	14	40				
C3orf18	51161	broad.mit.edu	37	3	50603073	50603073	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:50603073C>G	uc003das.2	-	2	509	c.58G>C	c.(58-60)GAG>CAG	p.E20Q	C3orf18_uc003dar.2_Missense_Mutation_p.E20Q|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.E20Q|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.E20Q	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	hypothetical protein LOC51161	20						integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		AGGTCAGACTCAGAGGTGGGT	0.622		NaN											0	0	0	1	0	3	23				
DUSP7	1849	broad.mit.edu	37	3	52090218	52090218	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52090218C>A	uc003dct.2	-	1	244	c.165G>T	c.(163-165)AAG>AAT	p.K55N	DUSP7_uc010hma.2_Missense_Mutation_p.K55N	NM_001947	NP_001938	Q16829	DUS7_HUMAN	dual specificity phosphatase 7	55					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGGCGCTCTTGCAGGGCA	0.398		NaN											1	0	0.115264	1	0.115908	3	7				
POC1A	25886	broad.mit.edu	37	3	52183865	52183865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:52183865C>T	uc003dcu.2	-	3	560	c.242G>A	c.(241-243)CGA>CAA	p.R81Q	POC1A_uc003dcv.2_Missense_Mutation_p.R43Q|POC1A_uc003dcw.2_Missense_Mutation_p.R81Q	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	81	WD 2.					centriole|microtubule basal body					0						AGTCTTGTCTCGGGAGCCGGA	0.597		NaN											0	0	0	1	0	11	51				
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62188855G>A	uc003dlb.2	+	12	2105	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	PTPRG_uc003dlc.2_Silent_p.A462A	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547		NaN											0	0	0	1	0	13	65				
CADPS	8618	broad.mit.edu	37	3	62385241	62385241	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:62385241C>T	uc003dll.2	-	30	4262	c.3902G>A	c.(3901-3903)CGA>CAA	p.R1301Q	CADPS_uc003dlj.1_Missense_Mutation_p.R256Q|CADPS_uc003dlk.1_Missense_Mutation_p.R749Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1262Q|CADPS_uc003dln.2_Missense_Mutation_p.R1222Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1301	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		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)		CCCTTGCAATCGGAAATCTCT	0.488		NaN											0	0	0	1	0	19	67				
PDZRN3	23024	broad.mit.edu	37	3	73453372	73453372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:73453372C>T	uc003dpl.1	-	4	1189	c.1093G>A	c.(1093-1095)GAA>AAA	p.E365K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E22K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E63K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E82K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E85K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	365							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATGATATGTTCAAAGGTGATG	0.512		NaN											0	0	0	1	0	49	65				
CNTN3	5067	broad.mit.edu	37	3	74351884	74351884	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:74351884C>T	uc003dpm.1	-	13	1823	c.1743G>A	c.(1741-1743)ACG>ACA	p.T581T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	581	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		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)		TGTCCACCCCCGTTTGCACCA	0.408		NaN											0	0	0	1	0	5	23				
TFG	10342	broad.mit.edu	37	3	100432575	100432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432575C>T	uc003due.2	+	2	495	c.46C>T	c.(46-48)CAA>TAA	p.Q16*	TFG_uc003duf.2_Nonsense_Mutation_p.Q16*|TFG_uc003dug.2_Nonsense_Mutation_p.Q16*|TFG_uc003duh.2_Nonsense_Mutation_p.Q16*|TFG_uc003dui.2_Nonsense_Mutation_p.Q16*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	16					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						CATCAAAGCTCAACTTGGGGA	0.378		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	1	0	38	79				
TFG	10342	broad.mit.edu	37	3	100432661	100432661	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:100432661C>T	uc003due.2	+	2	581	c.132C>T	c.(130-132)TTC>TTT	p.F44F	TFG_uc003duf.2_Silent_p.F44F|TFG_uc003dug.2_Silent_p.F44F|TFG_uc003duh.2_Silent_p.F44F|TFG_uc003dui.2_Silent_p.F44F	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	44					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						AACGAGTTTTCAGAGGAAAAC	0.289		NaN	T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								0	0	0	1	0	32	56				
CEP97	79598	broad.mit.edu	37	3	101451356	101451356	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101451356G>A	uc003dvk.1	+	6	613	c.586G>A	c.(586-588)GAA>AAA	p.E196K	CEP97_uc010hpm.1_Missense_Mutation_p.E162K|CEP97_uc011bhf.1_Missense_Mutation_p.E196K|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.E34K	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	196	LRR 8.					centrosome|nucleus	protein binding			ovary(2)	2						ATCCTTAACTGAATTGGAACA	0.398		NaN											0	0	0	1	0	8	52				
FAM55C	91775	broad.mit.edu	37	3	101540511	101540511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540511C>T	uc003dvn.2	+	8	2030	c.1393C>T	c.(1393-1395)CGA>TGA	p.R465*	FAM55C_uc010hpn.2_Nonsense_Mutation_p.R465*	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	465						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GAACATCCGTCGAGCAGTGGT	0.572		NaN											0	0	0	1	0	18	92				
FAM55C	91775	broad.mit.edu	37	3	101540531	101540531	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:101540531C>T	uc003dvn.2	+	8	2050	c.1413C>T	c.(1411-1413)CTC>CTT	p.L471L	FAM55C_uc010hpn.2_Silent_p.L471L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	471						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						TTCGGCTCCTCGATCGAAGCC	0.572		NaN											0	0	0	1	0	18	110				
SLC35A5	55032	broad.mit.edu	37	3	112300027	112300027	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:112300027C>G	uc003dze.2	+	6	1308	c.1063C>G	c.(1063-1065)CCC>GCC	p.P355A		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	355	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						TGACTTCAGGCCCTCCCTGGA	0.448		NaN											0	0	0	1	0	13	72				
BOC	91653	broad.mit.edu	37	3	113002302	113002302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113002302C>G	uc003dzx.2	+	16	3097	c.2476C>G	c.(2476-2478)CTG>GTG	p.L826V	BOC_uc003dzy.2_Missense_Mutation_p.L826V|BOC_uc003dzz.2_Missense_Mutation_p.L827V|BOC_uc003eab.2_Missense_Mutation_p.L527V|BOC_uc003eac.2_Missense_Mutation_p.L141V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	826	Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)			ACCCCCAACTCTGGCCCCACC	0.572		NaN											0	0	0	1	0	30	143				
KIAA2018	205717	broad.mit.edu	37	3	113379239	113379239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:113379239C>G	uc003eam.2	-	7	1701	c.1290G>C	c.(1288-1290)CAG>CAC	p.Q430H	KIAA2018_uc003eal.2_Missense_Mutation_p.Q374H	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	430					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TCCACGTTGTCTGTGTGTTTC	0.413		NaN											0	0	0	1	0	16	79				
ZBTB20	26137	broad.mit.edu	37	3	114069835	114069835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:114069835C>T	uc003ebi.2	-	4	1270	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K	ZBTB20_uc003ebj.2_Missense_Mutation_p.E291K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E291K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E291K|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCGGTGCCCTCGGCCTGGTCT	0.607		NaN											0	0	0	1	0	16	52				
MYLK	4638	broad.mit.edu	37	3	123419600	123419600	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123419600C>T	uc003ego.2	-	18	2997	c.2715G>A	c.(2713-2715)GTG>GTA	p.V905V	MYLK_uc011bjw.1_Silent_p.V905V|MYLK_uc003egp.2_Silent_p.V836V|MYLK_uc003egq.2_Silent_p.V905V|MYLK_uc003egr.2_Silent_p.V836V|MYLK_uc003egs.2_Silent_p.V729V|MYLK_uc003egt.2_Silent_p.V96V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	905	1-2.|5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTTGTACTCACCTTCTTCC	0.592		NaN											0	0	0	1	0	8	55				
CCDC14	64770	broad.mit.edu	37	3	123634090	123634090	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:123634090G>A	uc011bjx.1	-	13	2489	c.2398C>T	c.(2398-2400)CAG>TAG	p.Q800*	CCDC14_uc003egv.3_Nonsense_Mutation_p.Q441*|CCDC14_uc003egx.3_Nonsense_Mutation_p.Q600*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.Q759*|CCDC14_uc003egy.3_Nonsense_Mutation_p.Q600*|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	800						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ATTTGTGGCTGAGGGGATAGT	0.388		NaN											0	0	0	1	0	17	74				
EEFSEC	60678	broad.mit.edu	37	3	127872571	127872571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:127872571C>T	uc003eki.2	+	1	259	c.221C>T	c.(220-222)GCG>GTG	p.A74V	EEFSEC_uc003ekj.2_Missense_Mutation_p.A74V|RUVBL1_uc003ekf.2_5'UTR	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	74						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1						TTCCAGGCAGCGCCCGAGGCC	0.716		NaN											0	0	0	1	0	2	2				
ACAD9	28976	broad.mit.edu	37	3	128631370	128631370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:128631370G>A	uc003ela.3	+	18	1988	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.E473K|ACAD9_uc003elb.2_Missense_Mutation_p.E473K|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.E248K|uc003elf.1_Intron	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	596						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						AAACCTAGATGAGCAGATTAA	0.512		NaN											0	0	0	1	0	21	28				
C3orf37	56941	broad.mit.edu	37	3	129007759	129007759	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129007759C>T	uc003elt.2	+	3	334	c.246C>T	c.(244-246)TTC>TTT	p.F82F	C3orf37_uc003elu.2_Silent_p.F82F|C3orf37_uc003elv.2_Silent_p.F82F|C3orf37_uc003elw.2_Silent_p.F82F	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	hypothetical protein LOC56941	82										ovary(1)	1						CTTCTTGGTTCAAAGAAAGTG	0.478		NaN											0	0	0	1	0	9	69				
H1FX	8971	broad.mit.edu	37	3	129034497	129034497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:129034497C>G	uc003elx.2	-	1	624	c.249G>C	c.(247-249)CAG>CAC	p.Q83H	C3orf47_uc011bkv.1_5'Flank	NM_006026	NP_006017	Q92522	H1X_HUMAN	H1 histone family, member X	83	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding				0						TGCGCCCATTCTGCTGGTCGA	0.612		NaN											0	0	0	1	0	3	3				
COL6A6	131873	broad.mit.edu	37	3	130287183	130287183	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130287183C>T	uc010htl.2	+	5	2167	c.2136C>T	c.(2134-2136)TTC>TTT	p.F712F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	712	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						CTCAGTACTTCAGCCCCACCA	0.502		NaN											0	0	0	1	0	21	93				
NEK11	79858	broad.mit.edu	37	3	130799266	130799266	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:130799266G>C	uc003eny.2	+	4	497	c.171_splice	c.e4-1	p.L57_splice	NEK11_uc003enx.2_Splice_Site_p.L57_splice|NEK11_uc003eoa.2_Splice_Site_p.L57_splice|NEK11_uc003enz.2_Splice_Site|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Splice_Site_p.L57_splice|NEK11_uc003enw.1_Splice_Site_p.L57_splice|NEK11_uc011blm.1_Splice_Site_p.L57_splice|NEK11_uc010hto.1_5'Flank	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11 isoform 1						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(4)|stomach(1)|central_nervous_system(1)	6						TTTGATCTCAGAAAGGTACTT	0.378		NaN											0	0	0	1	0	3	18				
TMEM22	80723	broad.mit.edu	37	3	136574418	136574418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:136574418C>G	uc003erf.3	+	2	1330	c.1116C>G	c.(1114-1116)ATC>ATG	p.I372M	TMEM22_uc003erg.3_Missense_Mutation_p.I372M|TMEM22_uc010hub.2_Missense_Mutation_p.I372M	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	372	DUF6 2.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						TTCCTAGCATCTATGATGTTT	0.403		NaN											0	0	0	1	0	33	157				
MED12L	116931	broad.mit.edu	37	3	150883739	150883739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:150883739C>G	uc003eyp.2	+	10	1502	c.1464C>G	c.(1462-1464)TTC>TTG	p.F488L	MED12L_uc011bnz.1_Missense_Mutation_p.F348L|MED12L_uc003eyn.2_Missense_Mutation_p.F488L|MED12L_uc003eyo.2_Missense_Mutation_p.F488L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	488					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGATTTTCTGGGCAAACC	0.343		NaN											0	0	0	1	0	25	98				
OTOL1	131149	broad.mit.edu	37	3	161221331	161221331	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221331C>T	uc011bpb.1	+	4	1035	c.1035C>T	c.(1033-1035)TTC>TTT	p.F345F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	345	C1q.					collagen					0						GGTCGGCTTTCAGCGCTGGTT	0.517		NaN											0	0	0	1	0	13	41				
OTOL1	131149	broad.mit.edu	37	3	161221535	161221535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:161221535C>G	uc011bpb.1	+	4	1239	c.1239C>G	c.(1237-1239)TTC>TTG	p.F413L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	413	C1q.					collagen					0						AGAAGCAGTTCAAGTCCAGAG	0.473		NaN											0	0	0	1	0	5	42				
LRRIQ4	344657	broad.mit.edu	37	3	169539961	169539961	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:169539961G>T	uc003fgb.2	+	1	252	c.252G>T	c.(250-252)AGG>AGT	p.R84S		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	84	LRR 3.										0						ACAACCTGAGGAGCCTGTGCC	0.532		NaN											1	0	6.72482e-11	1	7.47862e-11	15	124				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|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).		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	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	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)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	1	0	12	81		Valid		
YEATS2	55689	broad.mit.edu	37	3	183503990	183503990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183503990C>T	uc003fly.2	+	20	3009	c.2814C>T	c.(2812-2814)CTC>CTT	p.L938L	YEATS2_uc003flz.2_Silent_p.L17L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	938					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	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)			CCTCACAGCTCTCGAAGCCTG	0.547		NaN											0	0	0	1	0	30	54				
DVL3	1857	broad.mit.edu	37	3	183883967	183883967	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:183883967G>T	uc003fms.2	+	8	957	c.817G>T	c.(817-819)GAC>TAC	p.D273Y	DVL3_uc011bqw.1_Missense_Mutation_p.D273Y|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.D105Y	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	273	PDZ.				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			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGAGCGTGGTGACGGCGGCAT	0.502		NaN											1	0	9.31168e-06	1	9.77726e-06	12	109				
FAM131A	131408	broad.mit.edu	37	3	184059850	184059850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:184059850C>T	uc003fog.2	+	1	1593	c.229C>T	c.(229-231)CCA>TCA	p.P77S	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	77						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTATCTCCAGGTATTTC	0.597		NaN											0	0	0	1	0	75	177				
MASP1	5648	broad.mit.edu	37	3	186947621	186947621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:186947621C>G	uc003frh.1	-	11	1700	c.1368G>C	c.(1366-1368)CAG>CAC	p.Q456H		NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	456	Peptidase S1.				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			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGTGCCTTTCTGGGCTGGGC	0.597		NaN											0	0	0	1	0	11	38				
ATP13A5	344905	broad.mit.edu	37	3	193031929	193031929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:193031929G>A	uc011bsq.1	-	19	2212	c.2212C>T	c.(2212-2214)CCA>TCA	p.P738S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	738					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	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)		TGGCTGCCTGGAGGGATCATT	0.478		NaN											0	0	0	1	0	55	107				
MUC4	4585	broad.mit.edu	37	3	195516055	195516055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195516055G>T	uc011bto.1	-	2	2856	c.2396C>A	c.(2395-2397)TCA>TAA	p.S799*	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S681*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	804	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		TGTGCCCGCTGAGGTGGTTCG	0.587		NaN											1	0	2.32078e-09	1	2.5472e-09	12	123				
MUC4	4585	broad.mit.edu	37	3	195517505	195517505	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr3:195517505G>C	uc011bto.1	-	2	1406	c.946C>G	c.(946-948)CAG>GAG	p.Q316E	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.Q198E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	321					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	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)		GTTGTGTCCTGAGTAGAAGTC	0.468		NaN											0	0	0	1	0	31	135				
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:2514856G>A	uc003gfb.2	+	7	757	c.421G>A	c.(421-423)GAG>AAG	p.E141K	RNF4_uc010icj.2_Silent_p.Q87Q|RNF4_uc003gfc.2_Missense_Mutation_p.E141K	NM_002938	NP_002929	P78317	RNF4_HUMAN	ring finger protein 4	141	RING-type.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458		NaN											0	0	0	1	0	13	230				
DOK7	285489	broad.mit.edu	37	4	3465126	3465126	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3465126G>A	uc003ghd.2	+	1	94	c.24G>A	c.(22-24)GAG>GAA	p.E8E	DOK7_uc003ghe.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	8	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCTGGTGGAGGGCCAGGTCA	0.378		NaN											0	0	0	1	0	2	3				
ADRA2C	152	broad.mit.edu	37	4	3768990	3768990	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:3768990C>T	uc003ghm.2	+	1	695	c.657C>T	c.(655-657)TTC>TTT	p.F219F	ADRA2C_uc010icx.2_Silent_p.F219F	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	219	Helical; Name=5; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGGCTCCTTCTTCGCGCCCT	0.697		NaN											0	0	0	1	0	5	5				
SORCS2	57537	broad.mit.edu	37	4	7194756	7194756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:7194756C>A	uc003gkb.3	+	1	383	c.383C>A	c.(382-384)TCG>TAG	p.S128*		NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	128	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGAGTGGCTTCGCGGGCGCAG	0.741		NaN											1	0	6.4e-05	1	6.66446e-05	3	7				
GPR78	27201	broad.mit.edu	37	4	8583003	8583003	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:8583003G>A	uc003glk.2	+	1	713	c.294G>A	c.(292-294)GCG>GCA	p.A98A	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	98	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						TGAGCGTGGCGGCGCTGAGCG	0.716		NaN											0	0	0	1	0	7	8				
FGFBP2	83888	broad.mit.edu	37	4	15964632	15964632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:15964632C>T	uc003gon.2	-	1	228	c.121G>A	c.(121-123)GAT>AAT	p.D41N		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	41						extracellular space	growth factor binding				0						GTGCAGGAATCTCTCCCTCCA	0.582		NaN											0	0	0	1	0	15	38				
ARAP2	116984	broad.mit.edu	37	4	36122942	36122942	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:36122942C>G	uc003gsq.1	-	23	4091	c.3753G>C	c.(3751-3753)CAG>CAC	p.Q1251H		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1251	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTGAGCATTTCTGAACCCTGT	0.338		NaN											0	0	0	1	0	27	77				
TLR10	81793	broad.mit.edu	37	4	38776990	38776990	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:38776990C>G	uc003gti.2	-	2	601	c.222G>C	c.(220-222)CTG>CTC	p.L74L	TLR10_uc003gtj.2_Silent_p.L74L|TLR10_uc003gtk.2_Silent_p.L74L	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	74	LRR 3.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						TCAAAACTCTCAGTTTGGAGA	0.388		NaN											0	0	0	1	0	10	49				
KLB	152831	broad.mit.edu	37	4	39450291	39450291	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:39450291G>C	uc003gua.2	+	5	3217	c.3120G>C	c.(3118-3120)AAG>AAC	p.K1040N	KLB_uc011byj.1_Missense_Mutation_p.K1031N	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	1040	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						AGAAAGGCAAGAGAGTTGTTA	0.353		NaN											0	0	0	1	0	11	85				
N4BP2	55728	broad.mit.edu	37	4	40123716	40123716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40123716G>A	uc003guy.3	+	9	4323	c.3985G>A	c.(3985-3987)GAA>AAA	p.E1329K	N4BP2_uc010ifq.2_Missense_Mutation_p.E1249K|N4BP2_uc010ifr.2_Missense_Mutation_p.E1249K	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1329						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						AGATGAAGAAGAATTTATGAA	0.289		NaN											0	0	0	1	0	30	63				
RBM47	54502	broad.mit.edu	37	4	40440385	40440385	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:40440385C>T	uc003gvc.2	-	4	1236	c.526G>A	c.(526-528)GAG>AAG	p.E176K	RBM47_uc003gvd.2_Missense_Mutation_p.E176K|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.E138K|RBM47_uc003gvg.1_Missense_Mutation_p.E176K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	176	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						AGCACGCCCTCGGTGACCTTG	0.637		NaN											0	0	0	1	0	24	89				
GABRB1	2560	broad.mit.edu	37	4	47163397	47163397	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:47163397G>A	uc003gxh.2	+	4	746	c.372G>A	c.(370-372)CTG>CTA	p.L124L	GABRB1_uc011bze.1_Silent_p.L54L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	124	Extracellular (Probable).				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			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTACTTTCTGAATGACAAGA	0.443		NaN											0	0	0	1	0	31	116				
LRRC66	339977	broad.mit.edu	37	4	52861501	52861501	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:52861501G>T	uc003gzi.2	-	4	1700	c.1687C>A	c.(1687-1689)CAC>AAC	p.H563N		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	563						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GAGACAGCGTGAGACGTGCCA	0.483		NaN											1	0	2.79147e-13	1	3.15731e-13	52	120				
KIT	3815	broad.mit.edu	37	4	55570029	55570029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55570029C>T	uc010igr.2	+	5	983	c.896C>T	c.(895-897)GCA>GTA	p.A299V	KIT_uc010igs.2_Missense_Mutation_p.A299V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	299	Extracellular (Potential).|Ig-like C2-type 3.				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			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	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)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGGATCAGCAAATGTCACA	0.358		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors				0	0	0	1	0	17	103				
KDR	3791	broad.mit.edu	37	4	55961025	55961025	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55961025G>A	uc003has.2	-	21	3217	c.2915C>T	c.(2914-2916)TCA>TTA	p.S972L	KDR_uc003hat.1_Missense_Mutation_p.S972L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	972	Protein kinase.|Cytoplasmic (Potential).				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			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	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)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGCTGGCTGAGCTCTGGCT	0.527		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	1	0	34	81				
KDR	3791	broad.mit.edu	37	4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:55968171C>T	uc003has.2	-	15	2461	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	KDR_uc003hat.1_Missense_Mutation_p.R720Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	720	Ig-like C2-type 7.|Extracellular (Potential).				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			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	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)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGAGGTTCCGGTTCCCATC	0.438		NaN	Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			0	0	0	1	0	18	95				
TECRL	253017	broad.mit.edu	37	4	65147237	65147237	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:65147237G>A	uc003hcv.2	-	10	982	c.873C>T	c.(871-873)TTC>TTT	p.F291F	TECRL_uc010ihi.2_RNA	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	291					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						ACATCCATGTGAAGGGGTTAT	0.338		NaN											0	0	0	1	0	11	60				
UGT2B10	7365	broad.mit.edu	37	4	69885667	69885667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:69885667C>G	uc011cao.1	-	4	458	c.322G>C	c.(322-324)GAC>CAC	p.D108H	UGT2B10_uc011can.1_Missense_Mutation_p.D108H			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	145					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						AAAACGATGTCAAATCTTGAC	0.368		NaN											0	0	0	1	0	22	83				
UGT2B28	54490	broad.mit.edu	37	4	70146759	70146759	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:70146759G>A	uc003hej.2	+	1	543	c.541G>A	c.(541-543)GAA>AAA	p.E181K	UGT2B28_uc010ihr.2_Missense_Mutation_p.E181K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	181					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTACACAATTGAAAGGCACAG	0.418		NaN											0	0	0	1	0	47	31				
ADAMTS3	9508	broad.mit.edu	37	4	73179451	73179451	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:73179451C>G	uc003hgk.1	-	12	1725	c.1688G>C	c.(1687-1689)TGT>TCT	p.C563S	ADAMTS3_uc003hgl.2_5'Flank	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	563	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			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)			TGTCCGAGAACAGGAGCCAAA	0.423		NaN											0	0	0	1	0	21	43				
SHROOM3	57619	broad.mit.edu	37	4	77660799	77660799	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77660799C>A	uc011cbx.1	+	5	2426	c.1473C>A	c.(1471-1473)CTC>CTA	p.L491L	SHROOM3_uc011cbz.1_Silent_p.L315L|SHROOM3_uc003hkf.1_Silent_p.L366L|SHROOM3_uc003hkg.2_Silent_p.L269L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	491					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			skin(2)|ovary(1)	3			Lung(101;0.0903)			ACGGTATGCTCTACCCTGCAC	0.562		NaN											1	0	9.16793e-09	1	9.97547e-09	16	86				
SEPT11	55752	broad.mit.edu	37	4	77933056	77933056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77933056G>C	uc003hkj.2	+	4	669	c.507G>C	c.(505-507)ATG>ATC	p.M169I	SEPT11_uc010ijh.1_Missense_Mutation_p.M161I|SEPT11_uc011cca.1_Missense_Mutation_p.M179I|SEPT11_uc003hkk.1_5'Flank	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	169					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						TGGTCACCATGAAAAAGCTGG	0.433		NaN											0	0	0	1	0	12	74				
SEPT11	55752	broad.mit.edu	37	4	77941663	77941663	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:77941663G>A	uc003hkj.2	+	7	955	c.793G>A	c.(793-795)GAA>AAA	p.E265K	SEPT11_uc010ijh.1_Missense_Mutation_p.E257K|SEPT11_uc011cca.1_Missense_Mutation_p.E275K|SEPT11_uc003hkk.1_Missense_Mutation_p.E65K	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0						AGTTGAGAATGAAAATCATTG	0.458		NaN											0	0	0	1	0	13	93				
SEC31A	22872	broad.mit.edu	37	4	83788011	83788011	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:83788011G>A	uc003hnf.2	-	10	1311	c.1147C>T	c.(1147-1149)CTG>TTG	p.L383L	SEC31A_uc003hne.2_Silent_p.L155L|SEC31A_uc011ccl.1_Silent_p.L383L|SEC31A_uc003hnl.2_Silent_p.L383L|SEC31A_uc003hng.2_Silent_p.L383L|SEC31A_uc003hnh.2_Silent_p.L383L|SEC31A_uc003hni.2_Silent_p.L383L|SEC31A_uc003hnj.2_Silent_p.L383L|SEC31A_uc011ccm.1_Silent_p.L378L|SEC31A_uc011ccn.1_Silent_p.L383L|SEC31A_uc003hnk.2_Silent_p.L383L|SEC31A_uc003hnm.2_Silent_p.L383L|SEC31A_uc003hnn.1_Silent_p.L383L|SEC31A_uc003hno.2_Silent_p.L383L	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	383	Interaction with SEC13.				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		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GGCTTCTTCAGAGGCAGCACT	0.458		NaN											0	0	0	1	0	43	135				
CDS1	1040	broad.mit.edu	37	4	85556483	85556483	+	Missense_Mutation	SNP	T	T	G	rs141889582		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:85556483T>G	uc011ccv.1	+	8	1287	c.789T>G	c.(787-789)TTT>TTG	p.F263L	CDS1_uc010ike.1_Missense_Mutation_p.F67L	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	263					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.G264fs*7(2)		large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GATTTTTTTTTGGGAGAACTC	0.318		NaN											0	0	0	1	0	15	85				
AFF1	4299	broad.mit.edu	37	4	88036295	88036295	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88036295G>A	uc003hqj.3	+	11	2696	c.2289G>A	c.(2287-2289)GTG>GTA	p.V763V	AFF1_uc011ccz.1_Silent_p.V770V|AFF1_uc003hqk.3_Silent_p.V763V|AFF1_uc011cda.1_Silent_p.V401V	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	763						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCTTGATGGTGAAGATCACCC	0.592		NaN											0	0	0	1	0	15	61				
SPARCL1	8404	broad.mit.edu	37	4	88394928	88394928	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:88394928C>G	uc010ikm.2	-	12	2566	c.1994G>C	c.(1993-1995)TGA>TCA	p.*665S	SPARCL1_uc011cdc.1_Nonstop_Mutation_p.*540S|SPARCL1_uc003hqs.3_Nonstop_Mutation_p.*665S|SPARCL1_uc011cdd.1_Nonstop_Mutation_p.*540S	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	665					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATCTTCGTTCAAAACAAGAG	0.323		NaN											0	0	0	1	0	15	93				
ADH1B	125	broad.mit.edu	37	4	100235088	100235088	+	Missense_Mutation	SNP	C	C	T	rs75973598		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:100235088C>T	uc003hus.3	-	6	802	c.718G>A	c.(718-720)GAA>AAA	p.E240K	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.E200K|ADH1B_uc011ceh.1_Missense_Mutation_p.E85K|ADH1B_uc011cei.1_Missense_Mutation_p.E200K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	240					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGATGCATTCAGTGGCACCC	0.468		NaN											0	0	0	1	0	77	427				
TACR3	6870	broad.mit.edu	37	4	104640753	104640753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:104640753G>A	uc003hxe.1	-	1	223	c.80C>T	c.(79-81)TCG>TTG	p.S27L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	27	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCTAGCGAGGCGGTCAG	0.682		NaN											0	0	0	1	0	7	49				
TBCK	93627	broad.mit.edu	37	4	107165844	107165844	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:107165844C>T	uc010ilv.2	-	11	1374	c.1009G>A	c.(1009-1011)GAG>AAG	p.E337K	TBCK_uc003hyb.2_Missense_Mutation_p.E80K|TBCK_uc003hye.2_Missense_Mutation_p.E298K|TBCK_uc003hyc.2_Missense_Mutation_p.E274K|TBCK_uc003hyd.2_Missense_Mutation_p.E165K|TBCK_uc003hyf.2_Missense_Mutation_p.E337K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	337						intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						AGCTCTTTCTCCAAGTCACCT	0.353		NaN											0	0	0	1	0	21	71				
KIAA1109	84162	broad.mit.edu	37	4	123118351	123118351	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:123118351G>C	uc003ieh.2	+	11	1255	c.1210G>C	c.(1210-1212)GAA>CAA	p.E404Q	KIAA1109_uc003iei.1_Missense_Mutation_p.E158Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	404					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CTTTTGGTAGGAAACAAATGC	0.249		NaN											0	0	0	1	0	16	49				
FAT4	79633	broad.mit.edu	37	4	126367492	126367492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:126367492C>T	uc003ifj.3	+	8	7238	c.7238C>T	c.(7237-7239)TCG>TTG	p.S2413L	FAT4_uc011cgp.1_Missense_Mutation_p.S711L|FAT4_uc003ifi.1_5'Flank	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2413	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATCAACCCATCGACAGGACAA	0.408		NaN											0	0	0	1	0	15	109				
PCDH18	54510	broad.mit.edu	37	4	138452282	138452282	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:138452282C>T	uc003ihe.3	-	1	1348	c.961G>A	c.(961-963)GAG>AAG	p.E321K	PCDH18_uc003ihf.3_Missense_Mutation_p.E314K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E101K|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	321	Cadherin 3.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					ACATCAATCTCATAGGATTTG	0.343		NaN											0	0	0	1	0	10	58				
TBC1D9	23158	broad.mit.edu	37	4	141677148	141677148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:141677148C>T	uc010ioj.2	-	1	324	c.52G>A	c.(52-54)GAG>AAG	p.E18K		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	18						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTGGCCCTCTCGGTGATCCAC	0.701		NaN											0	0	0	1	0	5	12				
PRMT10	90826	broad.mit.edu	37	4	148575400	148575400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:148575400G>C	uc003ilc.2	-	9	1790	c.1648C>G	c.(1648-1650)CCA>GCA	p.P550A	PRMT10_uc003ilb.2_Missense_Mutation_p.P194A|PRMT10_uc003ild.2_Missense_Mutation_p.P437A	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	550						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2						AGTTTCTCTGGAGTCAGTGAA	0.388		NaN											0	0	0	1	0	31	95				
FHDC1	85462	broad.mit.edu	37	4	153896615	153896615	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:153896615G>A	uc003inf.2	+	11	2247	c.2172G>A	c.(2170-2172)CTG>CTA	p.L724L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	724					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					GCAGCAGCCTGACACCCATGG	0.637		NaN											0	0	0	1	0	18	17				
GLRB	2743	broad.mit.edu	37	4	158074052	158074052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158074052G>A	uc003ipj.2	+	9	1289	c.1087G>A	c.(1087-1089)GAA>AAA	p.E363K		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	363	Cytoplasmic (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			skin(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GGTTGAAGCTGAAAAAGCCAG	0.448		NaN											0	0	0	1	0	27	54				
GRIA2	2891	broad.mit.edu	37	4	158255240	158255240	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:158255240G>C	uc003ipm.3	+	9	1693	c.1234G>C	c.(1234-1236)GAG>CAG	p.E412Q	GRIA2_uc011cit.1_Missense_Mutation_p.E365Q|GRIA2_uc003ipl.3_Missense_Mutation_p.E412Q|GRIA2_uc003ipk.3_Missense_Mutation_p.E365Q|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	412	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCTGGGCTTGAGAATAAGAC	0.403		NaN											0	0	0	1	0	10	78				
FAM198B	51313	broad.mit.edu	37	4	159092464	159092464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:159092464G>A	uc003ipp.3	-	2	516	c.64C>T	c.(64-66)CGG>TGG	p.R22W	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R22W|FAM198B_uc003ipr.3_Missense_Mutation_p.R22W|FAM198B_uc003ips.2_Missense_Mutation_p.R22W|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	22	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						TTACGCACCCGCGGGACGCAC	0.587		NaN											0	0	0	1	0	26	50				
GLRA3	8001	broad.mit.edu	37	4	175649820	175649820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:175649820C>G	uc003ity.1	-	4	800	c.297G>C	c.(295-297)CAG>CAC	p.Q99H	GLRA3_uc003itz.1_Missense_Mutation_p.Q99H	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	99	Extracellular (Probable).				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			ovary(3)	3		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)	CATTCCATTTCTGACGAAGAA	0.378		NaN											0	0	0	1	0	15	89				
WDR17	116966	broad.mit.edu	37	4	177098691	177098691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:177098691G>C	uc003iuj.2	+	30	3891	c.3735G>C	c.(3733-3735)AAG>AAC	p.K1245N	WDR17_uc003iuk.2_Missense_Mutation_p.K1221N|WDR17_uc003ium.3_Missense_Mutation_p.K1206N|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K456N	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1245										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTTATTAAAGAGACTAAAAG	0.328		NaN											0	0	0	1	0	16	92				
C4orf41	60684	broad.mit.edu	37	4	184605510	184605510	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:184605510G>A	uc003ivx.2	+	14	1595	c.1419G>A	c.(1417-1419)TTG>TTA	p.L473L	C4orf41_uc003ivw.2_Silent_p.L473L|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Silent_p.L79L	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	473											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		CCAAAGCTTTGAAGTGAGTCC	0.303		NaN											0	0	0	1	0	23	42				
TLR3	7098	broad.mit.edu	37	4	187005024	187005024	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr4:187005024G>C	uc003iyq.2	+	4	2285	c.2184G>C	c.(2182-2184)TGG>TGC	p.W728C	TLR3_uc011ckz.1_Missense_Mutation_p.W451C|TLR3_uc003iyr.2_Missense_Mutation_p.W451C	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	728	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGAGGGCTGGAGGATATCTT	0.358		NaN											0	0	0	1	0	78	132				
KIAA0947	23379	broad.mit.edu	37	5	5462600	5462600	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:5462600G>A	uc003jdm.3	+	13	3375	c.3153G>A	c.(3151-3153)TTG>TTA	p.L1051L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1051										ovary(1)|central_nervous_system(1)	2						TTTGGAAATTGAAATCTACAA	0.463		NaN											0	0	0	1	0	40	140				
CDH10	1008	broad.mit.edu	37	5	24535867	24535867	+	Silent	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:24535867T>C	uc003jgr.1	-	4	923	c.591A>G	c.(589-591)AGA>AGG	p.R197R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	197	Cadherin 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAAATGACTCTGGCGCTGT	0.443		NaN								HNSCC(23;0.051)			0	0	0	1	0	9	86				
ADAMTS12	81792	broad.mit.edu	37	5	33662105	33662105	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662105G>C	uc003jia.1	-	6	1119	c.956C>G	c.(955-957)TCT>TGT	p.S319C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S319C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	319	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCAGAAGCTAGACAGTGTCTT	0.488		NaN								HNSCC(64;0.19)			0	0	0	1	0	31	69				
ADAMTS12	81792	broad.mit.edu	37	5	33662118	33662118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:33662118C>T	uc003jia.1	-	6	1106	c.943G>A	c.(943-945)GAA>AAA	p.E315K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E315K	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	315	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						AGTGTCTTTTCTGCATGGTGA	0.473		NaN								HNSCC(64;0.19)			0	0	0	1	0	23	75				
TTC23L	153657	broad.mit.edu	37	5	34867123	34867123	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:34867123G>A	uc003jiu.2	+	7	892	c.789G>A	c.(787-789)CAG>CAA	p.Q263Q	TTC23L_uc003jiv.2_Silent_p.Q70Q|TTC23L_uc010iut.1_Silent_p.Q70Q	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263	Potential.						binding			central_nervous_system(1)	1						AAGCTGCTCAGATAGAGCAGC	0.547		NaN											0	0	0	1	0	5	18				
LMBRD2	92255	broad.mit.edu	37	5	36141289	36141289	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:36141289G>A	uc003jkb.1	-	4	703	c.288C>T	c.(286-288)TTC>TTT	p.F96F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	96	Extracellular (Potential).					integral to membrane					0	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)			TCCATGGCTTGAAACAAGGAT	0.333		NaN											0	0	0	1	0	11	65				
LIFR	3977	broad.mit.edu	37	5	38481806	38481806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:38481806G>A	uc010ive.1	-	20	3517	c.3185C>T	c.(3184-3186)TCC>TTC	p.S1062F	LIFR_uc003jli.2_Missense_Mutation_p.S1062F	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	1062	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					GGAATTAATGGAGCATGGACT	0.403		NaN	T	PLAG1	salivary adenoma								0	0	0	1	0	20	203				
CCNB1	891	broad.mit.edu	37	5	68473423	68473423	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:68473423G>C	uc003jvm.2	+	9	1444	c.1267G>C	c.(1267-1269)GTT>CTT	p.V423L	CCNB1_uc010ixb.2_Missense_Mutation_p.V386L	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	423					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTGCACTAGTTCAAGATTT	0.393		NaN											0	0	0	1	0	52	56				
MCCC2	64087	broad.mit.edu	37	5	70928012	70928012	+	Missense_Mutation	SNP	G	G	A	rs119103223		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:70928012G>A	uc003kbs.3	+	8	941	c.803G>A	c.(802-804)AGA>AAA	p.R268K	MCCC2_uc010iyv.1_Missense_Mutation_p.R268K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.R137K	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	268	Carboxyltransferase.		R -> T (in MCC2 deficiency; asymptomatic form).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTCATTGCAGGTGAAACAGA	0.398		NaN											0	0	0	1	0	33	47				
HMGCR	3156	broad.mit.edu	37	5	74643117	74643117	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:74643117G>A	uc003kdp.2	+	6	695	c.539G>A	c.(538-540)GGA>GAA	p.G180E	HMGCR_uc011cst.1_Missense_Mutation_p.G200E|HMGCR_uc003kdq.2_Missense_Mutation_p.G180E|HMGCR_uc010izn.1_Missense_Mutation_p.G20E	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	180	Helical; (Potential).				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			ovary(1)	1		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)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTGATTGGAGTTGGTACC	0.353		NaN											0	0	0	1	0	79	84				
TBCA	6902	broad.mit.edu	37	5	76989151	76989151	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:76989151C>A	uc003kfh.1	-	3	290	c.186G>T	c.(184-186)ATG>ATT	p.M62I	TBCA_uc003kfi.1_Missense_Mutation_p.M62I	NM_004607	NP_004598	O75347	TBCA_HUMAN	tubulin-specific chaperone a	62					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			ovary(1)	1		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		CTGGGATCATCATCCTGGATT	0.403		NaN											1	0	1.58986e-06	1	1.6848e-06	9	26				
ERAP2	64167	broad.mit.edu	37	5	96215522	96215522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:96215522C>T	uc003kmq.2	+	2	843	c.133C>T	c.(133-135)CAC>TAC	p.H45Y	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.H45Y|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.H39Y|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	45	Lumenal (Potential).				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				0		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)		ATCTAGTTATCACTTCACTGA	0.458		NaN											0	0	0	1	0	14	39				
HSPA4	3308	broad.mit.edu	37	5	132424172	132424172	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424172C>T	uc003kyj.2	+	9	1343	c.1062C>T	c.(1060-1062)ATC>ATT	p.I354I		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	354					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGAAGATCAGCAAATTTT	0.358		NaN											0	0	0	1	0	24	36				
HSPA4	3308	broad.mit.edu	37	5	132424226	132424226	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:132424226C>G	uc003kyj.2	+	9	1397	c.1116C>G	c.(1114-1116)GTC>GTG	p.V372V		NM_002154	NP_002145	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	372					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			lung(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGAAGCTGTCACTCGAGGCT	0.368		NaN											0	0	0	1	0	33	44				
MYOT	9499	broad.mit.edu	37	5	137213275	137213275	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137213275C>G	uc011cye.1	+	4	615	c.598C>G	c.(598-600)CAA>GAA	p.Q200E	MYOT_uc003lbv.2_Missense_Mutation_p.Q200E|MYOT_uc011cyg.1_Missense_Mutation_p.Q16E|MYOT_uc011cyh.1_Missense_Mutation_p.Q85E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	myotilin isoform b	200					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGTGTTTCAAGCTCAGGA	0.388		NaN											0	0	0	1	0	13	50				
NME5	8382	broad.mit.edu	37	5	137474391	137474391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137474391C>T	uc003lce.2	-	2	157	c.79G>A	c.(79-81)GAG>AAG	p.E27K	BRD8_uc003lcc.1_Intron	NM_003551	NP_003542	P56597	NDK5_HUMAN	non-metastatic cells 5, protein expressed in	27					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCCTCCTCTTTGTCAACA	0.378		NaN											0	0	0	1	0	18	30				
CDC25C	995	broad.mit.edu	37	5	137622209	137622209	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:137622209G>A	uc003lcp.1	-	12	1408	c.1137C>T	c.(1135-1137)TTC>TTT	p.F379F	CDC25C_uc003lcq.1_Silent_p.F306F|CDC25C_uc003lcr.1_Silent_p.F379F|CDC25C_uc011cyp.1_Silent_p.F396F|CDC25C_uc003lcs.1_Silent_p.F457F	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	379	HIV-1 Vpr binding site.|Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGAGGAGAATTCACAGT	0.468		NaN											0	0	0	1	0	16	48				
PCDHB13	56123	broad.mit.edu	37	5	140594200	140594200	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:140594200G>A	uc003lja.1	+	1	692	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	169	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAATATTGAGAACTATAT	0.478		NaN											0	0	0	1	0	37	53				
SH3RF2	153769	broad.mit.edu	37	5	145442003	145442003	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:145442003G>T	uc003lnt.2	+	10	2167	c.1929G>T	c.(1927-1929)GTG>GTT	p.V643V	SH3RF2_uc011dbl.1_Silent_p.V643V|SH3RF2_uc003lnu.2_Silent_p.V134V|SH3RF2_uc011dbn.1_Silent_p.V134V|SH3RF2_uc011dbo.1_Silent_p.V100V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	643	Interaction with PPP1CA.			V->G: Significant loss of interaction with PPP1CA. Significant loss of interaction with PPP1CA; when associated with G-645.			ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAAAACCGTGAGATTTCAGA	0.522		NaN											1	0	1.10513e-12	1	1.24661e-12	22	113				
AFAP1L1	134265	broad.mit.edu	37	5	148687015	148687015	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:148687015G>C	uc003lqh.2	+	7	717	c.586G>C	c.(586-588)GAG>CAG	p.E196Q	AFAP1L1_uc003lqg.3_Missense_Mutation_p.E196Q|AFAP1L1_uc010jgy.2_Missense_Mutation_p.E196Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	196	Poly-Glu.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGAAGAGGAGGAGGAAGG	0.587		NaN											0	0	0	1	0	15	86				
FAT2	2196	broad.mit.edu	37	5	150901233	150901233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:150901233C>T	uc003lue.3	-	18	10934	c.10921G>A	c.(10921-10923)GAG>AAG	p.E3641K	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.E334K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3641	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGCTCCTCGGGGGTGAGC	0.607		NaN											0	0	0	1	0	8	35				
GEMIN5	25929	broad.mit.edu	37	5	154272068	154272068	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:154272068C>T	uc003lvx.3	-	25	3722	c.3639G>A	c.(3637-3639)CTG>CTA	p.L1213L	GEMIN5_uc011ddk.1_Silent_p.L1212L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	1213					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTTGGCTCAGCACTGCCA	0.587		NaN											0	0	0	1	0	9	40				
TIMD4	91937	broad.mit.edu	37	5	156375436	156375436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:156375436G>A	uc003lwh.2	-	5	892	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	279	Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAGGCTGAGGAGAAGAC	0.323		NaN											0	0	0	1	0	8	11				
DOCK2	1794	broad.mit.edu	37	5	169469046	169469046	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:169469046C>T	uc003maf.2	+	38	3866	c.3786C>T	c.(3784-3786)GTC>GTT	p.V1262V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.V754V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1262	DHR-2.|Interaction with CRKL.				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			ovary(5)|pancreas(2)	7	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)			CATCACAGGTCATGCAGACAG	0.542		NaN											0	0	0	1	0	9	8				
CLTB	1212	broad.mit.edu	37	5	175843355	175843355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr5:175843355C>T	uc003meh.2	-	2	185	c.10G>A	c.(10-12)GAC>AAC	p.D4N	CLTB_uc003mei.2_Missense_Mutation_p.D4N|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	4					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	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)		AAGCCAAAGTCATCAGCCATT	0.741		NaN											0	0	0	1	0	6	15				
IRF4	3662	broad.mit.edu	37	6	401636	401636	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:401636G>C	uc003msz.3	+	7	1071	c.958G>C	c.(958-960)GCC>CCC	p.A320P	IRF4_uc010jne.1_Missense_Mutation_p.A320P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A319P|IRF4_uc003mtc.1_Missense_Mutation_p.A150P	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	320					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTCTGGATGGCCCCCGACGG	0.612		NaN	T	IGH@	MM 								0	0	0	1	0	7	19				
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:1313343C>T	uc003mtl.3	+	1	669	c.404C>T	c.(403-405)TCG>TTG	p.S135L		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135	Fork-head.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding				0	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.592		NaN											0	0	0	1	0	10	20		Valid		
NRN1	51299	broad.mit.edu	37	6	5999356	5999356	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:5999356C>T	uc003mwu.2	-	3	933	c.282G>A	c.(280-282)CTG>CTA	p.L94L	NRN1_uc003mwt.2_Silent_p.L120L	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	94						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATTCTTTTCTCAGTTTATCCC	0.562		NaN											0	0	0	1	0	6	43				
ATXN1	6310	broad.mit.edu	37	6	16327637	16327637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:16327637G>A	uc003nbt.2	-	8	1876	c.905C>T	c.(904-906)CCT>CTT	p.P302L	ATXN1_uc010jpi.2_Missense_Mutation_p.P302L|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	302					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGCCTCCCGAGGGACAAAGTG	0.657		NaN											0	0	0	1	0	8	48				
NUP153	9972	broad.mit.edu	37	6	17626341	17626341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17626341G>A	uc003ncd.1	-	19	3799	c.3599C>T	c.(3598-3600)TCA>TTA	p.S1200L	NUP153_uc011dje.1_Missense_Mutation_p.S1231L|NUP153_uc010jpl.1_Missense_Mutation_p.S1158L	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1200					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			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGGTGTACTTGAACTAGAGGA	0.418		NaN											0	0	0	1	0	20	29				
KIF13A	63971	broad.mit.edu	37	6	17790135	17790135	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17790135C>G	uc003ncg.3	-	26	3334	c.3229G>C	c.(3229-3231)GAT>CAT	p.D1077H	KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Missense_Mutation_p.D1077H|KIF13A_uc003nci.3_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1077					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATCCTCATCATCTCTCTGG	0.383		NaN											0	0	0	1	0	10	22				
KIF13A	63971	broad.mit.edu	37	6	17855761	17855761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:17855761G>C	uc003ncg.3	-	6	506	c.401C>G	c.(400-402)TCT>TGT	p.S134C	KIF13A_uc003ncf.2_Missense_Mutation_p.S134C|KIF13A_uc003nch.3_Missense_Mutation_p.S134C|KIF13A_uc003nci.3_Missense_Mutation_p.S134C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	134	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGCTCCAAAGAGATCCTTTT	0.423		NaN											0	0	0	1	0	14	43				
LRRC16A	55604	broad.mit.edu	37	6	25466165	25466165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25466165G>A	uc011djw.1	+	9	1055	c.679G>A	c.(679-681)GAT>AAT	p.D227N	LRRC16A_uc010jpx.2_Missense_Mutation_p.D227N|LRRC16A_uc010jpy.2_Missense_Mutation_p.D227N|LRRC16A_uc003nez.1_Missense_Mutation_p.D66N	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	227					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GTCCTCTAAGGATCTAAAACT	0.363		NaN											0	0	0	1	0	17	91				
SLC17A1	6568	broad.mit.edu	37	6	25811931	25811931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:25811931G>C	uc003nfh.3	-	9	1081	c.965C>G	c.(964-966)TCA>TGA	p.S322*	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.S320*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.S266*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	322					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						GAAGAAGTCTGATAACTGACC	0.448		NaN											0	0	0	1	0	22	65				
BTN1A1	696	broad.mit.edu	37	6	26508758	26508758	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:26508758C>T	uc003nif.3	+	7	957	c.937C>T	c.(937-939)CAT>TAT	p.H313Y		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	313	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						AGACACAGCTCATCCCCACCT	0.463		NaN											0	0	0	1	0	98	191				
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:28264604G>C	uc003nky.2	+	5	1024	c.654G>C	c.(652-654)AAG>AAC	p.K218N	PGBD1_uc003nkz.2_Missense_Mutation_p.K218N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CATTGGTGAAGACTGAGGAAG	0.463		NaN											0	0	0	1	0	13	79				
PPP1R10	5514	broad.mit.edu	37	6	30576867	30576867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30576867C>T	uc003nqn.1	-	4	733	c.181G>A	c.(181-183)GAA>AAA	p.E61K	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	61	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						ACCAATATTTCTGGTGAACGG	0.483		NaN											0	0	0	1	0	14	56				
DHX16	8449	broad.mit.edu	37	6	30627868	30627868	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:30627868C>T	uc003nqz.2	-	10	1908	c.1696G>A	c.(1696-1698)GAC>AAC	p.D566N	DHX16_uc003nqy.2_Missense_Mutation_p.D85N|DHX16_uc011dmo.1_Missense_Mutation_p.D506N	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	566	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						ACAGGGGCGTCATCAAAGAAG	0.542		NaN											0	0	0	1	0	20	69				
BAT2	7916	broad.mit.edu	37	6	31594883	31594883	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:31594883G>A	uc003nvb.3	+	11	1447	c.1198G>A	c.(1198-1200)GAG>AAG	p.E400K	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.E400K	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	400	4 X 57 AA type A repeats.|2 X type B repeats.|2-1.					cytoplasm|nucleus	protein binding				0						TCGGCCTCCAGAGACAGAGCC	0.672		NaN											0	0	0	1	0	11	44				
TNXB	7148	broad.mit.edu	37	6	32036422	32036422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32036422G>A	uc003nzl.2	-	17	6167	c.5965C>T	c.(5965-5967)CGC>TGC	p.R1989C		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2071	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						TCCCCCAGGCGAGGCTTGATG	0.622		NaN											0	0	0	1	0	16	51				
ATF6B	1388	broad.mit.edu	37	6	32094926	32094926	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32094926G>A	uc003nzn.2	-	4	329	c.296C>T	c.(295-297)TCC>TTC	p.S99F	ATF6B_uc003nzo.2_Missense_Mutation_p.S96F|ATF6B_uc011dpg.1_Missense_Mutation_p.S33F|ATF6B_uc011dph.1_Missense_Mutation_p.S99F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	99	Cytoplasmic (Potential).|Poly-Ser.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGCTGAGGGAGGAGGAAGA	0.527		NaN											0	0	0	1	0	6	17				
PBX2	5089	broad.mit.edu	37	6	32154464	32154464	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:32154464C>T	uc003oav.1	-	8	1388	c.1117G>A	c.(1117-1119)GAA>AAA	p.E373K	AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	373							transcription factor binding			ovary(1)	1						CGGAGTGATTCCACCTGCAGG	0.552		NaN											0	0	0	1	0	15	38				
SYNGAP1	8831	broad.mit.edu	37	6	33411122	33411122	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:33411122C>T	uc011dri.1	+	15	2988	c.2793C>T	c.(2791-2793)CTC>CTT	p.L931L	SYNGAP1_uc010juy.2_Silent_p.L902L|SYNGAP1_uc010juz.2_Silent_p.L643L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	931					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						AGAACCCTCTCTTCCACATGG	0.582		NaN											0	0	0	1	0	37	210				
FTSJD2	23070	broad.mit.edu	37	6	37443108	37443108	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:37443108G>C	uc003ons.2	+	19	2209	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	FtsJ methyltransferase domain containing 2	652					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAAGGCCCAGAGGAAGATCA	0.592		NaN											0	0	0	1	0	6	24				
TAF8	129685	broad.mit.edu	37	6	42019184	42019184	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:42019184G>A	uc003ors.2	+	2	164	c.135G>A	c.(133-135)CTG>CTA	p.L45L	CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Silent_p.L45L|TAF8_uc003ort.2_Silent_p.L45L|TAF8_uc003oru.1_Silent_p.L45L|TAF8_uc003orv.1_Silent_p.L45L|TAF8_uc011dun.1_5'UTR	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	45	Histone-fold.				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			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			GCTCCTTGCTGACAGAGGCAG	0.532		NaN											0	0	0	1	0	24	99				
CDC5L	988	broad.mit.edu	37	6	44374146	44374146	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44374146C>T	uc003oxl.2	+	7	1104	c.845C>T	c.(844-846)ACT>ATT	p.T282I		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	282	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTCTTCAAACTAGTGGTGTT	0.318		NaN											0	0	0	1	0	29	122				
TNFRSF21	27242	broad.mit.edu	37	6	47221041	47221041	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47221041C>G	uc003oyv.2	-	4	1893	c.1460G>C	c.(1459-1461)AGA>ACA	p.R487T		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	487	Cytoplasmic (Potential).|Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			AACATCGTTTCTCCGGTGCTG	0.617		NaN											0	0	0	1	0	4	18				
C6orf138	442213	broad.mit.edu	37	6	47846150	47846150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:47846150G>T	uc011dwm.1	-	3	2464	c.2379C>A	c.(2377-2379)TTC>TTA	p.F793L	C6orf138_uc011dwn.1_Missense_Mutation_p.F557L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	810						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						TGGAAGGGGGGAAAAACGTTA	0.448		NaN											1	0	3.99206e-14	1	4.52745e-14	19	74				
IL17A	3605	broad.mit.edu	37	6	52052468	52052468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:52052468G>A	uc003pak.1	+	2	140	c.95G>A	c.(94-96)GGA>GAA	p.G32E		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	32					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)					CGAAATCCAGGATGCCCAAAT	0.493		NaN											0	0	0	1	0	95	146				
LRRC1	55227	broad.mit.edu	37	6	53761655	53761655	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:53761655G>A	uc003pcd.1	+	6	809	c.532G>A	c.(532-534)GAA>AAA	p.E178K		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	178	LRR 8.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AAGACTAGAAGAACTTGATTT	0.313		NaN											0	0	0	1	0	14	44				
HCRTR2	3062	broad.mit.edu	37	6	55142257	55142257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:55142257C>T	uc003pcl.2	+	5	1157	c.842C>T	c.(841-843)CCA>CTA	p.P281L	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	281	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGGACAGCCAACGAAGTCC	0.517		NaN											0	0	0	1	0	9	37				
DST	667	broad.mit.edu	37	6	56458793	56458793	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:56458793G>A	uc003pdf.2	-	42	6065	c.6037C>T	c.(6037-6039)CTG>TTG	p.L2013L	DST_uc003pcz.3_Silent_p.L1835L|DST_uc011dxj.1_Silent_p.L1864L|DST_uc011dxk.1_Silent_p.L1875L|DST_uc003pcy.3_Silent_p.L1509L|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3921					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|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			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCTGCAGAGAGTGAGTT	0.413		NaN											0	0	0	1	0	9	51				
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:62390905C>G	uc003peg.2	-	9	1260	c.1013G>C	c.(1012-1014)AGA>ACA	p.R338T		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTATCCCCCTCTGGCTGACCT	0.493		NaN											0	0	0	1	0	6	35				
CD109	135228	broad.mit.edu	37	6	74490221	74490221	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:74490221G>C	uc003php.2	+	16	2327	c.1902G>C	c.(1900-1902)CAG>CAC	p.Q634H	CD109_uc010kaz.2_Missense_Mutation_p.Q634H|CD109_uc003phq.2_Missense_Mutation_p.Q634H|CD109_uc010kba.2_Missense_Mutation_p.Q557H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	634	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4						CAGTCTTTCAGGTATGTTTTG	0.294		NaN											0	0	0	1	0	14	102				
SENP6	26054	broad.mit.edu	37	6	76412689	76412689	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:76412689G>C	uc003pid.3	+	19	3236	c.2617G>C	c.(2617-2619)GAA>CAA	p.E873Q	SENP6_uc003pie.3_Missense_Mutation_p.E866Q|SENP6_uc010kbf.2_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	873	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				TGAAAATGAAGAATTCAATAA	0.368		NaN											0	0	0	1	0	46	153				
DOPEY1	23033	broad.mit.edu	37	6	83839159	83839159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:83839159C>G	uc003pjs.1	+	16	2533	c.2273C>G	c.(2272-2274)TCA>TGA	p.S758*	DOPEY1_uc011dyy.1_Nonsense_Mutation_p.S749*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.S749*	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	758					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		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)		CTAGAGTGCTCAAGTTTCCCA	0.393		NaN											0	0	0	1	0	35	57				
UBE2J1	51465	broad.mit.edu	37	6	90052151	90052151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:90052151G>T	uc010kcb.2	-	4	302	c.129C>A	c.(127-129)TTC>TTA	p.F43L	UBE2J1_uc003pnc.2_Missense_Mutation_p.F43L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	43	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTCTAACCGTGAAGTGCCATT	0.378		NaN											1	0	5.50884e-06	1	5.79878e-06	12	39				
KLHL32	114792	broad.mit.edu	37	6	97489422	97489422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:97489422G>A	uc010kcm.1	+	4	731	c.259G>A	c.(259-261)GGT>AGT	p.G87S	KLHL32_uc003poy.2_Missense_Mutation_p.G87S|KLHL32_uc011ead.1_Intron|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	87	BTB.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAATTTGCACGGTGTGACCAG	0.428		NaN											0	0	0	1	0	10	91				
GRIK2	2898	broad.mit.edu	37	6	102503216	102503216	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:102503216C>G	uc003pqp.3	+	15	2572	c.2323C>G	c.(2323-2325)CGA>GGA	p.R775G	GRIK2_uc003pqo.3_Missense_Mutation_p.R775G|GRIK2_uc010kcw.2_Missense_Mutation_p.R775G	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	775	Extracellular (Potential).				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			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		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)	L-Glutamic Acid(DB00142)	TTCTCCATATCGAGACAAAAT	0.408		NaN											0	0	0	1	0	15	56				
MICAL1	64780	broad.mit.edu	37	6	109769984	109769984	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:109769984C>A	uc003ptj.2	-	11	1869	c.1615G>T	c.(1615-1617)GAT>TAT	p.D539Y	MICAL1_uc003ptk.2_Missense_Mutation_p.D539Y|MICAL1_uc010kdr.2_Missense_Mutation_p.D453Y|MICAL1_uc011eaq.1_Missense_Mutation_p.D558Y	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	539	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		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)		GCTAGCCCATCAGCCCAGGAG	0.622		NaN											1	0	8.53417e-09	1	9.31001e-09	35	140				
ECT2L	345930	broad.mit.edu	37	6	139183796	139183796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:139183796C>G	uc003qif.1	+	9	1334	c.1231C>G	c.(1231-1233)CAA>GAA	p.Q411E	ECT2L_uc011edq.1_Missense_Mutation_p.Q342E	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	411					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						CCAGCTGTCTCAACTAACTGG	0.438		NaN											0	0	0	1	0	9	65				
SASH1	23328	broad.mit.edu	37	6	148848652	148848652	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:148848652C>G	uc003qme.1	+	12	1823	c.1348C>G	c.(1348-1350)CTT>GTT	p.L450V	SASH1_uc011eeb.1_Missense_Mutation_p.L211V|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	450							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCGCATCTCTCTTGGGAAAAA	0.418		NaN											0	0	0	1	0	21	73				
MTHFD1L	25902	broad.mit.edu	37	6	151270192	151270192	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:151270192C>T	uc003qob.2	+	16	1917	c.1649C>T	c.(1648-1650)CCG>CTG	p.P550L	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.P551L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.P498L	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	550	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AAGACTGATCCGAGCACACTG	0.453		NaN											0	0	0	1	0	15	17				
SYNE1	23345	broad.mit.edu	37	6	152642938	152642938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152642938G>A	uc010kiw.2	-	83	16603	c.16001C>T	c.(16000-16002)TCT>TTT	p.S5334F	SYNE1_uc003qot.3_Missense_Mutation_p.S5263F|SYNE1_uc003qou.3_Missense_Mutation_p.S5334F|SYNE1_uc010kiz.2_Missense_Mutation_p.S1089F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5334	Cytoplasmic (Potential).				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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATTTCACAGAATTGATCTG	0.398		NaN								HNSCC(10;0.0054)			0	0	0	1	0	24	77				
SYNE1	23345	broad.mit.edu	37	6	152719867	152719867	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:152719867C>G	uc010kiw.2	-	49	7840	c.7238_splice	c.e49-1	p.E2413_splice	SYNE1_uc003qot.3_Splice_Site_p.E2420_splice|SYNE1_uc003qou.3_Splice_Site_p.E2413_splice|SYNE1_uc010kjb.1_Splice_Site_p.E2396_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCATAGACTCTTTTGAAAGa	0.368		NaN								HNSCC(10;0.0054)			0	0	0	1	0	17	54				
ARID1B	57492	broad.mit.edu	37	6	157528459	157528459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:157528459G>T	uc003qqn.2	+	20	6282	c.6130G>T	c.(6130-6132)GAG>TAG	p.E2044*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.E2004*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.E1991*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2049					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCGTCTGCAGAGGCACAAGA	0.532		NaN											1	0	8.69298e-16	1	9.90339e-16	42	110		Valid		
IGF2R	3482	broad.mit.edu	37	6	160525708	160525708	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:160525708G>A	uc003qta.2	+	48	7216	c.7068G>A	c.(7066-7068)GTG>GTA	p.V2356V		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2356	Cytoplasmic (Potential).				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			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCTGGCAGGTGAATAAGGAAG	0.567		NaN											0	0	0	1	0	8	36				
RPS6KA2	6196	broad.mit.edu	37	6	166864689	166864689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864689G>A	uc003qvb.1	-	13	1327	c.1108C>T	c.(1108-1110)CAT>TAT	p.H370Y	RPS6KA2_uc011ego.1_Missense_Mutation_p.H281Y|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H281Y|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H378Y|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H395Y	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	370	AGC-kinase C-terminal.				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			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		AACAGGTGATGAGCGTTTGCA	0.547		NaN											0	0	0	1	0	21	39				
RPS6KA2	6196	broad.mit.edu	37	6	166864716	166864716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:166864716G>T	uc003qvb.1	-	13	1300	c.1081C>A	c.(1081-1083)CCT>ACT	p.P361T	RPS6KA2_uc011ego.1_Missense_Mutation_p.P272T|RPS6KA2_uc010kkl.1_Missense_Mutation_p.P272T|RPS6KA2_uc003qvc.1_Missense_Mutation_p.P369T|RPS6KA2_uc003qvd.1_Missense_Mutation_p.P386T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	361	AGC-kinase C-terminal.				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			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		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)		GGGACGCCAGGAGAGTCTGTA	0.473		NaN											1	0	3.32936e-07	1	3.55508e-07	17	40				
TTYH3	80727	broad.mit.edu	37	7	2686589	2686589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:2686589G>A	uc003smp.2	+	2	413	c.226G>A	c.(226-228)GAG>AAG	p.E76K	TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	76	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCGCAAGAGCGAGGAGCACCT	0.582		NaN											0	0	0	1	0	4	10				
RBAK	57786	broad.mit.edu	37	7	5105215	5105215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5105215G>C	uc010kss.1	+	6	2452	c.2128G>C	c.(2128-2130)GAT>CAT	p.D710H	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.D710H	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	710	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAACGTACTTGATGTGGAAAA	0.368		NaN											0	0	0	1	0	15	86				
TNRC18	84629	broad.mit.edu	37	7	5352267	5352267	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5352267C>G	uc003soi.3	-	27	8604	c.8255G>C	c.(8254-8256)AGA>ACA	p.R2752T		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2752							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GACGCCCTCTCTCTTCTTGGG	0.716		NaN											0	0	0	1	0	14	67				
FBXL18	80028	broad.mit.edu	37	7	5540603	5540603	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:5540603C>T	uc003soo.2	-	3	1391	c.1297G>A	c.(1297-1299)GAC>AAC	p.D433N	FBXL18_uc003son.3_Missense_Mutation_p.D433N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	433										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ggcgcgcggtcggcgcgcggc	0.562		NaN											0	0	0	1	0	5	11				
AGR2	10551	broad.mit.edu	37	7	16841376	16841376	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:16841376G>C	uc003str.2	-	2	232	c.45C>G	c.(43-45)CTC>CTG	p.L15L	AGR2_uc011jxy.1_Silent_p.L15L	NM_006408	NP_006399	O95994	AGR2_HUMAN	anterior gradient 2 homolog precursor	15					mucus secretion	endoplasmic reticulum|extracellular region	protein binding				0	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GAGTGTAGGAGAGGGCCACAA	0.478		NaN											0	0	0	1	0	14	80				
AHR	196	broad.mit.edu	37	7	17373647	17373647	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:17373647C>A	uc011jxz.1	+	7	1430	c.817C>A	c.(817-819)CAG>AAG	p.Q273K	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	273					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			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TACTCCACTTCAGCCACCATC	0.403		NaN											1	0	3.76869e-24	1	4.34849e-24	20	94				
HDAC9	9734	broad.mit.edu	37	7	18801875	18801875	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:18801875G>T	uc003suh.2	+	14	2171	c.2130G>T	c.(2128-2130)CAG>CAT	p.Q710H	HDAC9_uc003sue.2_Missense_Mutation_p.Q710H|HDAC9_uc011jyd.1_Missense_Mutation_p.Q710H|HDAC9_uc003sui.2_Missense_Mutation_p.Q713H|HDAC9_uc003suj.2_Missense_Mutation_p.Q669H|HDAC9_uc003sua.1_Missense_Mutation_p.Q688H	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	710	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGACGGACAGAAGCTGGACC	0.512		NaN											1	0	5.9392e-07	1	6.33113e-07	5	30				
OSBPL3	26031	broad.mit.edu	37	7	24849449	24849449	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:24849449G>A	uc003sxf.2	-	20	2699	c.2294C>T	c.(2293-2295)TCT>TTT	p.S765F	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.S729F|OSBPL3_uc003sxh.2_Missense_Mutation_p.S734F|OSBPL3_uc003sxi.2_Missense_Mutation_p.S698F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	765					lipid transport		lipid binding|protein binding			skin(1)	1						ACAGGCAGAAGAGGAGCCGCC	0.547		NaN											0	0	0	1	0	29	55				
SNX10	29887	broad.mit.edu	37	7	26412157	26412157	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:26412157G>A	uc003sxx.2	+	7	786	c.571G>A	c.(571-573)GGA>AGA	p.G191R	SNX10_uc011jzg.1_Missense_Mutation_p.G214R|SNX10_uc010kuu.2_Missense_Mutation_p.G191R|SNX10_uc010kuv.2_Missense_Mutation_p.G187R|SNX10_uc010kuw.2_Missense_Mutation_p.G107R	NM_013322	NP_037454	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	191					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding				0						CAGTTCACATGGATGTAAAGT	0.373		NaN											0	0	0	1	0	25	162				
EVX1	2128	broad.mit.edu	37	7	27284678	27284678	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27284678G>A	uc003szd.1	+	2	925	c.439G>A	c.(439-441)GAG>AAG	p.E147K	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.P128P	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTCCGGCTCCGAGGCGCTGGT	0.672		NaN											0	0	0	1	0	19	64				
TAX1BP1	8887	broad.mit.edu	37	7	27831832	27831832	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:27831832G>A	uc003szl.2	+	9	1404	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A416T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A416T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A259T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	416	Oligomerization.|Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			TAAACTAAATGCTATGAAAAA	0.353		NaN											0	0	0	1	0	7	24				
PLEKHA8	84725	broad.mit.edu	37	7	30087570	30087570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:30087570G>A	uc003tam.1	+	4	527	c.436G>A	c.(436-438)GAG>AAG	p.E146K	PLEKHA8_uc003tao.2_Missense_Mutation_p.E30K|PLEKHA8_uc003tap.1_Missense_Mutation_p.E146K|PLEKHA8_uc003tan.2_Missense_Mutation_p.E146K	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	146					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						GTCCAATTCTGAGGtaaaata	0.274		NaN											0	0	0	1	0	14	40				
NT5C3	51251	broad.mit.edu	37	7	33057059	33057059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:33057059C>T	uc003tdk.2	-	7	777	c.700G>A	c.(700-702)GAT>AAT	p.D234N	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.D195N|NT5C3_uc003tdj.2_Missense_Mutation_p.D195N	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	234					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ACAGTTTCATCAAAATCCATA	0.254		NaN											0	0	0	1	0	13	50				
POLM	27434	broad.mit.edu	37	7	44119254	44119254	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44119254G>C	uc003tjt.2	-	4	650	c.558C>G	c.(556-558)CTC>CTG	p.L186L	POLM_uc003tju.2_Silent_p.L186L|POLM_uc003tjx.2_Silent_p.L186L|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Silent_p.L186L|POLM_uc011kbu.1_Silent_p.L153L|POLM_uc010kxy.2_Silent_p.L186L	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	DNA-directed DNA polymerase mu	186					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						GAAGGGCCTTGAGCACCGAGG	0.627		NaN						DNA_polymerases_(catalytic_subunits)					0	0	0	1	0	14	79				
NPC1L1	29881	broad.mit.edu	37	7	44561680	44561680	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:44561680C>T	uc003tlb.2	-	11	2855	c.2799G>A	c.(2797-2799)AAG>AAA	p.K933K	NPC1L1_uc003tlc.2_Silent_p.K933K|NPC1L1_uc011kbw.1_Silent_p.K887K|NPC1L1_uc003tla.2_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	933	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CATACTGGATCTTCTGGGTGA	0.562		NaN											0	0	0	1	0	9	56				
ZPBP	11055	broad.mit.edu	37	7	50070753	50070753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:50070753G>C	uc003tou.2	-	5	711	c.641C>G	c.(640-642)TCT>TGT	p.S214C	ZPBP_uc011kci.1_Missense_Mutation_p.S140C|ZPBP_uc010kyw.2_Missense_Mutation_p.S213C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	214					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					ATGGCATTCAGACTTAAGTAA	0.328		NaN											0	0	0	1	0	10	85				
COBL	23242	broad.mit.edu	37	7	51092923	51092923	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:51092923G>C	uc003tpr.3	-	12	3836	c.3651C>G	c.(3649-3651)CTC>CTG	p.L1217L	COBL_uc003tps.2_Silent_p.L1227L|COBL_uc011kcl.1_Silent_p.L1170L|COBL_uc003tpp.3_Silent_p.L1003L|COBL_uc003tpq.3_Silent_p.L1111L|COBL_uc003tpo.3_Silent_p.L759L	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	1217										skin(3)|ovary(2)	5	Glioma(55;0.08)					TTGGTGCAGAGAGAGCCTGGG	0.642		NaN											0	0	0	1	0	11	34				
SBDS	51119	broad.mit.edu	37	7	66459252	66459252	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:66459252C>T	uc003tvm.1	-	2	389	c.205G>A	c.(205-207)GAA>AAA	p.E69K	TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	69					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						ATGAGATCTTCCTTTTTGGCA	0.438		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	1	0	21	201				
POM121	9883	broad.mit.edu	37	7	72414059	72414059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:72414059G>C	uc003twk.2	+	11	3527	c.3527G>C	c.(3526-3528)GGA>GCA	p.G1176A	POM121_uc003twj.2_Missense_Mutation_p.G911A|POM121_uc010lam.1_Missense_Mutation_p.G911A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	1176	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CCTGTGTTTGGAGGTAAGGAG	0.488		NaN											0	0	0	1	0	5	20				
CROT	54677	broad.mit.edu	37	7	87006664	87006664	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87006664G>A	uc003uit.2	+	10	1122	c.877_splice	c.e10-1	p.I293_splice	CROT_uc003uiu.2_Splice_Site_p.I321_splice	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATTTATTTTAGATTATTGCAG	0.323		NaN											0	0	0	1	0	9	19				
DBF4	10926	broad.mit.edu	37	7	87536669	87536669	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:87536669G>C	uc003ujf.1	+	12	1720	c.1216G>C	c.(1216-1218)GAA>CAA	p.E406Q	DBF4_uc003ujh.1_Missense_Mutation_p.E146Q|DBF4_uc003ujg.1_Missense_Mutation_p.E182Q|DBF4_uc011khf.1_Missense_Mutation_p.E173Q	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	406					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CCAGGAAACTGAAAAAAAGCT	0.383		NaN											0	0	0	1	0	12	84				
MTERF	7978	broad.mit.edu	37	7	91503796	91503796	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:91503796C>T	uc003ulb.1	-	2	356	c.312G>A	c.(310-312)GAG>GAA	p.E104E	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.E104E|MTERF_uc011khm.1_Silent_p.E84E|MTERF_uc010leu.1_Silent_p.E84E	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	104					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TCAGGTCCTGCTCATTGGTAA	0.418		NaN											0	0	0	1	0	24	119				
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99332708G>C	uc003uru.2	-	1	114	c.9C>G	c.(7-9)CTC>CTG	p.L3L	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_5'UTR|CYP3A5_uc010lgg.2_Silent_p.L3L	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	3					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTTTGGGATGAGATCCATCA	0.507		NaN											0	0	0	1	0	11	63				
AP4M1	9179	broad.mit.edu	37	7	99704109	99704109	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99704109G>A	uc003utb.3	+	14	1317	c.1109G>A	c.(1108-1110)GGA>GAA	p.G370E	AP4M1_uc010lgl.1_Missense_Mutation_p.G345E|AP4M1_uc003utc.3_Missense_Mutation_p.G377E|AP4M1_uc010lgm.2_Missense_Mutation_p.G242E|AP4M1_uc003utd.2_Missense_Mutation_p.G370E|AP4M1_uc011kjh.1_Missense_Mutation_p.G322E|AP4M1_uc003ute.3_Missense_Mutation_p.G145E|AP4M1_uc003utf.3_Missense_Mutation_p.G242E	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	370	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGGTGCAAGGAGGCTCTCAA	0.632		NaN											0	0	0	1	0	4	27				
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:99755503G>A	uc003utr.2	-	2	650	c.470C>T	c.(469-471)TCA>TTA	p.S157L	C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	157											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537		NaN											0	0	0	1	0	22	37				
MUC17	140453	broad.mit.edu	37	7	100684352	100684352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684352G>A	uc003uxp.1	+	3	9708	c.9655G>A	c.(9655-9657)GAA>AAA	p.E3219K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3219	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTAGTGAAGGAATGAC	0.498		NaN											0	0	0	1	0	93	430				
MUC17	140453	broad.mit.edu	37	7	100684883	100684883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100684883G>T	uc003uxp.1	+	3	10239	c.10186G>T	c.(10186-10188)GAA>TAA	p.E3396*	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3396	Extracellular (Potential).|55.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGTCCTAGTGAAGGAACCAC	0.498		NaN											1	0	2.63401e-43	1	3.0645e-43	98	436				
SERPINE1	5054	broad.mit.edu	37	7	100771918	100771918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:100771918C>T	uc003uxt.2	+	2	392	c.244C>T	c.(244-246)CAA>TAA	p.Q82*	SERPINE1_uc011kkj.1_Nonsense_Mutation_p.Q67*|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	82					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCAGCAGATTCAAGCAGCTAT	0.577		NaN											0	0	0	1	0	8	57				
PMPCB	9512	broad.mit.edu	37	7	102944862	102944862	+	Missense_Mutation	SNP	A	A	G	rs149104855	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:102944862A>G	uc003vbl.2	+	6	695	c.661A>G	c.(661-663)ATA>GTA	p.I221V	PMPCB_uc010liu.1_Missense_Mutation_p.I221V|PMPCB_uc003vbk.1_Missense_Mutation_p.I221V|PMPCB_uc003vbm.2_Missense_Mutation_p.I130V|PMPCB_uc010liv.2_Missense_Mutation_p.I127V|PMPCB_uc010liw.2_Missense_Mutation_p.I130V|PMPCB_uc011kll.1_Missense_Mutation_p.I116V|PMPCB_uc011klm.1_Missense_Mutation_p.I96V	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	221					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						TTACAGATCTATAAGTCGTAA	0.318		NaN											0	0	0	1	0	18	49				
LAMB1	3912	broad.mit.edu	37	7	107638920	107638920	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:107638920G>T	uc003vew.2	-	4	566	c.231C>A	c.(229-231)TTC>TTA	p.F77L	LAMB1_uc003vev.2_Missense_Mutation_p.F101L|LAMB1_uc003vex.2_Missense_Mutation_p.F77L|LAMB1_uc010ljn.1_Missense_Mutation_p.F163L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	77	Laminin N-terminal.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATTGCATATGAAGCATTTTT	0.363		NaN											1	0	0.000673444	1	0.000690993	10	70				
DOCK4	9732	broad.mit.edu	37	7	111400253	111400253	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:111400253G>A	uc003vfx.2	-	39	4388	c.4119C>T	c.(4117-4119)TTC>TTT	p.F1373F	DOCK4_uc011kml.1_Silent_p.F254F|DOCK4_uc011kmm.1_Silent_p.F280F|DOCK4_uc003vfw.2_Silent_p.F823F|DOCK4_uc003vfy.2_Silent_p.F1418F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1373	DHR-2.				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			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGCCTGGAAGATGGTCT	0.547		NaN											0	0	0	1	0	23	113				
PTPRZ1	5803	broad.mit.edu	37	7	121513587	121513587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:121513587C>G	uc003vjy.2	+	1	429	c.34C>G	c.(34-36)CAG>GAG	p.Q12E	PTPRZ1_uc003vjz.2_Missense_Mutation_p.Q12E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	12					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CGCTTGCATTCAGCTCCTCTG	0.617		NaN											0	0	0	1	0	9	24				
SND1	27044	broad.mit.edu	37	7	127544799	127544799	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:127544799G>A	uc003vmi.2	+	14	1681	c.1455_splice	c.e14-1	p.R485_splice	SND1_uc010lle.2_Splice_Site_p.R138_splice	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1						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			ovary(2)|central_nervous_system(1)	3						TTCCTTAACAGAGCTATTAAG	0.443		NaN											0	0	0	1	0	9	41				
CCDC136	64753	broad.mit.edu	37	7	128452893	128452893	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:128452893G>A	uc003vnv.1	+	14	3040	c.2673G>A	c.(2671-2673)CTG>CTA	p.L891L	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.L707L|CCDC136_uc010llq.1_Silent_p.L260L|CCDC136_uc003vny.1_Silent_p.L501L	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	891	Potential.					integral to membrane	protein binding			ovary(2)	2						AGAAAGACCTGAAGGAAGAGC	0.532		NaN											0	0	0	1	0	9	13				
MEST	4232	broad.mit.edu	37	7	130138063	130138063	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:130138063C>A	uc003vqg.2	+	5	640	c.423C>A	c.(421-423)ATC>ATA	p.I141I	MEST_uc003vqc.2_Silent_p.I132I|MEST_uc003vqd.2_Silent_p.I132I|MEST_uc003vqf.2_Silent_p.I132I|MEST_uc011kph.1_Silent_p.I127I|MEST_uc010lmg.2_Silent_p.I141I	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	mesoderm specific transcript isoform a	141					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			ovary(2)	2	Melanoma(18;0.0435)					ACCGCAGGATCAACCTTCTTT	0.483		NaN											1	0	5.03518e-11	1	5.60453e-11	19	73				
PLXNA4	91584	broad.mit.edu	37	7	131825454	131825454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:131825454G>A	uc003vra.3	-	30	5571	c.5342C>T	c.(5341-5343)TCT>TTT	p.S1781F	PLXNA4_uc003vqz.3_Missense_Mutation_p.S66F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1781	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CGTGGAGCAAGAGTCCATGAA	0.542		NaN											0	0	0	1	0	16	80				
EXOC4	60412	broad.mit.edu	37	7	132937919	132937919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:132937919C>A	uc003vrk.2	+	1	97	c.62C>A	c.(61-63)TCG>TAG	p.S21*	EXOC4_uc011kpo.1_5'Flank|EXOC4_uc003vri.2_Nonsense_Mutation_p.S21*|EXOC4_uc003vrj.2_Nonsense_Mutation_p.S21*	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	21					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				AAAGACCCCTCGGGGCTGCTC	0.617		NaN											1	0	2.27111e-07	1	2.43748e-07	12	60				
CALD1	800	broad.mit.edu	37	7	134618457	134618457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:134618457G>A	uc003vrz.2	+	5	1396	c.937G>A	c.(937-939)GAG>AAG	p.E313K	CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Missense_Mutation_p.E177K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	313					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						agaggcagaagagagggaaag	0.179		NaN											0	0	0	1	0	4	2				
ATP6V0A4	50617	broad.mit.edu	37	7	138437408	138437408	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:138437408C>T	uc003vuf.2	-	10	1229	c.991G>A	c.(991-993)GAT>AAT	p.D331N	ATP6V0A4_uc003vug.2_Missense_Mutation_p.D331N|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.D331N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	331	Cytoplasmic (Potential).				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			pancreas(1)	1						CGTGTGGCATCTGCCACCGGG	0.587		NaN											0	0	0	1	0	7	29				
ADCK2	90956	broad.mit.edu	37	7	140374519	140374519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:140374519G>A	uc003vvy.1	+	2	1220	c.1042G>A	c.(1042-1044)GAG>AAG	p.E348K	ADCK2_uc003vvz.2_Missense_Mutation_p.E348K	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	348	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					TAGCTTGCCTGAGATTGTGGA	0.522		NaN											0	0	0	1	0	9	28				
MGAM	8972	broad.mit.edu	37	7	141731552	141731552	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:141731552G>C	uc003vwy.2	+	13	1597	c.1543G>C	c.(1543-1545)GAG>CAG	p.E515Q		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	515	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAAGGAATTTGAGCTTTTTCA	0.368		NaN											0	0	0	1	0	16	82				
FAM131B	9715	broad.mit.edu	37	7	143053718	143053718	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143053718G>C	uc003wct.2	-	6	2630	c.924C>G	c.(922-924)CTC>CTG	p.L308L	FAM131B_uc010loz.2_Silent_p.L276L|FAM131B_uc003wcu.3_Silent_p.L308L|FAM131B_uc010lpa.2_Silent_p.L336L	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	308											0	Melanoma(164;0.205)					CCTTCCGGCTGAGAGCGGTAG	0.582		NaN											0	0	0	1	0	33	143				
OR2A2	442361	broad.mit.edu	37	7	143806767	143806767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143806767C>T	uc011ktz.1	+	1	92	c.92C>T	c.(91-93)TCT>TTT	p.S31F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GGACTCTTCTCTGTCTTCTAT	0.517		NaN											0	0	0	1	0	19	126				
ARHGEF35	445328	broad.mit.edu	37	7	143884109	143884109	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:143884109G>A	uc003wdz.1	-	2	1486	c.1368C>T	c.(1366-1368)ATC>ATT	p.I456I		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	456											0						GAGAGCATCTGATGGGCTCTA	0.488		NaN											0	0	0	1	0	8	30				
GIMAP2	26157	broad.mit.edu	37	7	150389979	150389979	+	Missense_Mutation	SNP	T	T	C	rs138926685		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150389979T>C	uc003who.2	+	3	693	c.605T>C	c.(604-606)ATT>ACT	p.I202T	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	202						integral to membrane	GTP binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGACTGTATTGAGGATCTG	0.458		NaN											0	0	0	1	0	59	88				
KCNH2	3757	broad.mit.edu	37	7	150649798	150649798	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150649798G>A	uc003wic.2	-	6	1285	c.1272C>T	c.(1270-1272)TTC>TTT	p.F424F	KCNH2_uc003wib.2_Silent_p.F84F|KCNH2_uc011kux.1_Silent_p.F328F|KCNH2_uc003wid.2_Silent_p.F84F|KCNH2_uc003wie.2_Silent_p.F424F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	424	Helical; Name=Segment S1; (Potential).				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			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	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)	AGTAGGGTGTGAAGACAGCCG	0.632		NaN											0	0	0	1	0	17	93				
NOS3	4846	broad.mit.edu	37	7	150709517	150709517	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:150709517C>T	uc003wif.2	+	24	3359	c.3063C>T	c.(3061-3063)TTC>TTT	p.F1021F	NOS3_uc011kuy.1_Silent_p.F815F|ATG9B_uc003wig.3_RNA|ATG9B_uc011kvc.1_3'UTR	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1021	NADP (By similarity).				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			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTGCCCCCTTCCGGGGATTCT	0.617		NaN											0	0	0	1	0	7	6				
INSIG1	3638	broad.mit.edu	37	7	155090019	155090019	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:155090019C>T	uc003wly.2	+	2	235	c.24C>T	c.(22-24)TTC>TTT	p.F8F	INSIG1_uc011kvu.1_Silent_p.F8F|INSIG1_uc003wlz.2_Silent_p.F8F	NM_005542	NP_005533	O15503	INSI1_HUMAN	insulin induced gene 1 isoform 1	8	Cytoplasmic.				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding				0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGACCACTTCTGGAGCTGCT	0.642		NaN											0	0	0	1	0	5	11				
WDR60	55112	broad.mit.edu	37	7	158663899	158663899	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr7:158663899G>A	uc003woe.3	+	3	294	c.136G>A	c.(136-138)GAG>AAG	p.E46K		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	46										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGGAGTCTGAGATGGACCT	0.547		NaN											0	0	0	1	0	8	18				
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:12946138G>A	uc003wwm.2	-	16	4594	c.4150C>T	c.(4150-4152)CGC>TGC	p.R1384C	DLC1_uc003wwk.1_Missense_Mutation_p.R947C|DLC1_uc003wwl.1_Missense_Mutation_p.R981C|DLC1_uc011kxx.1_Missense_Mutation_p.R873C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1384	START.				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			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TTAAGTAGGCGCTTTAAGATT	0.453		NaN											0	0	0	1	0	25	71				
LZTS1	11178	broad.mit.edu	37	8	20110394	20110394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:20110394C>A	uc003wzr.2	-	2	1159	c.1048G>T	c.(1048-1050)GAG>TAG	p.E350*	LZTS1_uc010ltg.1_Nonsense_Mutation_p.E350*	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	350	Potential.				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			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGAGGCTCTCGAGCTCCTGC	0.652		NaN											1	0	0.0477658	1	0.0481479	9	20				
EPB49	2039	broad.mit.edu	37	8	21927731	21927731	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:21927731G>A	uc011kyt.1	+	8	719	c.490G>A	c.(490-492)GAG>AAG	p.E164K	EPB49_uc010ltl.2_Missense_Mutation_p.E164K|EPB49_uc011kys.1_Missense_Mutation_p.E124K|EPB49_uc010ltn.2_Missense_Mutation_p.E139K|EPB49_uc011kyu.1_Missense_Mutation_p.E164K|EPB49_uc011kyv.1_Missense_Mutation_p.E164K|EPB49_uc010ltq.2_Missense_Mutation_p.E164K	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	164					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GCACCTCATCGAGGATCTCAT	0.612		NaN											0	0	0	1	0	18	126				
C8orf86	389649	broad.mit.edu	37	8	38370103	38370103	+	Silent	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:38370103G>C	uc003xlx.1	-	3	499	c.474C>G	c.(472-474)CTC>CTG	p.L158L		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	158											0						agacaggaaagagtttgatag	0.055		NaN											0	0	0	1	0	9	49				
ZMAT4	79698	broad.mit.edu	37	8	40532405	40532405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:40532405G>A	uc003xnr.2	-	5	541	c.395C>T	c.(394-396)CCG>CTG	p.P132L	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	132						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	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)			TGCGACCACCGGAGCAGTGTC	0.517		NaN											0	0	0	1	0	74	176				
SGK196	84197	broad.mit.edu	37	8	42977680	42977680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:42977680C>T	uc003xpw.2	+	5	972	c.713C>T	c.(712-714)TCC>TTC	p.S238F		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	238	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						AACCACAGCTCCGGGATGCTG	0.557		NaN											0	0	0	1	0	8	33				
PXDNL	137902	broad.mit.edu	37	8	52321993	52321993	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:52321993C>T	uc003xqu.3	-	17	2292	c.2191G>A	c.(2191-2193)GAC>AAC	p.D731N	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	731					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACGTGCCGTCGTGGGCGCGG	0.677		NaN											0	0	0	1	0	5	24				
ST18	9705	broad.mit.edu	37	8	53062372	53062372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:53062372G>A	uc003xqz.2	-	11	2128	c.1972C>T	c.(1972-1974)CAG>TAG	p.Q658*	ST18_uc011ldq.1_Nonsense_Mutation_p.Q305*|ST18_uc011ldr.1_Nonsense_Mutation_p.Q623*|ST18_uc011lds.1_Nonsense_Mutation_p.Q563*|ST18_uc003xra.2_Nonsense_Mutation_p.Q658*|ST18_uc003xrb.2_Nonsense_Mutation_p.Q658*	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	658						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAAAGAGCCTGATAGAATGCT	0.458		NaN											0	0	0	1	0	12	56				
ZFHX4	79776	broad.mit.edu	37	8	77618762	77618762	+	Silent	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77618762C>G	uc003yav.2	+	2	2826	c.2439C>G	c.(2437-2439)CTC>CTG	p.L813L	ZFHX4_uc003yat.1_Silent_p.L813L|ZFHX4_uc003yau.1_Silent_p.L813L|ZFHX4_uc003yaw.1_Silent_p.L813L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGGCCTCGCCCCGGCGG	0.507		NaN								HNSCC(33;0.089)			0	0	0	1	0	3	17				
ZFHX4	79776	broad.mit.edu	37	8	77620217	77620217	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:77620217C>G	uc003yav.2	+	3	3336	c.2949C>G	c.(2947-2949)AAC>AAG	p.N983K	ZFHX4_uc003yat.1_Missense_Mutation_p.N983K|ZFHX4_uc003yau.1_Missense_Mutation_p.N1009K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N983K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	983	C2H2-type 6.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTACACCAACAGTGTGGATA	0.473		NaN								HNSCC(33;0.089)			0	0	0	1	0	20	103				
LRRCC1	85444	broad.mit.edu	37	8	86035736	86035736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:86035736G>A	uc003ycw.2	+	7	1173	c.1019G>A	c.(1018-1020)AGA>AAA	p.R340K	LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Missense_Mutation_p.R41K|LRRCC1_uc003ycx.2_Missense_Mutation_p.R247K|LRRCC1_uc003ycy.2_Missense_Mutation_p.R320K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	340					cell division|mitosis	centriole|nucleus					0						TATGGAAACAGAAAAGAATGC	0.318		NaN											0	0	0	1	0	24	193				
DECR1	1666	broad.mit.edu	37	8	91055005	91055005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:91055005C>T	uc003yek.1	+	7	856	c.715C>T	c.(715-717)CAA>TAA	p.Q239*	DECR1_uc011lgc.1_Nonsense_Mutation_p.Q230*|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	239					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAATGTGATTCAACCAGGGCC	0.308		NaN											0	0	0	1	0	18	175				
DPY19L4	286148	broad.mit.edu	37	8	95782795	95782795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95782795G>C	uc003ygx.2	+	13	1574	c.1450G>C	c.(1450-1452)GAA>CAA	p.E484Q		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	484	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AATGGTTATAGAAGGGTAAGT	0.239		NaN											0	0	0	1	0	14	62				
CCNE2	9134	broad.mit.edu	37	8	95902660	95902660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:95902660G>C	uc003yhc.2	-	6	545	c.436C>G	c.(436-438)CTA>GTA	p.L146V	CCNE2_uc003yhd.2_Missense_Mutation_p.L146V	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	146					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					AGCCAGTCTAGAAGTATGGAC	0.363		NaN											0	0	0	1	0	78	143				
KCNS2	3788	broad.mit.edu	37	8	99440523	99440523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:99440523G>A	uc003yin.2	+	2	666	c.316G>A	c.(316-318)GAG>AAG	p.E106K		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	106	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGAGATCGAGTACTGGGG	0.557		NaN											0	0	0	1	0	48	221				
VPS13B	157680	broad.mit.edu	37	8	100874104	100874104	+	Silent	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:100874104G>T	uc003yiv.2	+	58	11331	c.11220G>T	c.(11218-11220)CGG>CGT	p.R3740R	VPS13B_uc003yiw.2_Silent_p.R3715R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3740					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAGTGGCGGCGGCAGCTCC	0.672		NaN											1	0	3.07112e-06	1	3.24359e-06	11	27				
SNX31	169166	broad.mit.edu	37	8	101586104	101586104	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586104C>T	uc003yjr.2	-	14	1463	c.1312G>A	c.(1312-1314)GAA>AAA	p.E438K	SNX31_uc011lha.1_Missense_Mutation_p.E233K|SNX31_uc011lhb.1_Missense_Mutation_p.E339K	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	438					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGATCTTCTTCCTTTATG	0.373		NaN											0	0	0	1	0	27	229				
SNX31	169166	broad.mit.edu	37	8	101586144	101586144	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:101586144C>G	uc003yjr.2	-	14	1423	c.1272G>C	c.(1270-1272)AAG>AAC	p.K424N	SNX31_uc011lha.1_Missense_Mutation_p.K219N|SNX31_uc011lhb.1_Missense_Mutation_p.K325N	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	424					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTTAGCTATCTTAATCTTGC	0.338		NaN											0	0	0	1	0	15	250				
UBR5	51366	broad.mit.edu	37	8	103341574	103341574	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:103341574G>A	uc003ykr.1	-	10	1185	c.1152C>T	c.(1150-1152)GTC>GTT	p.V384V	UBR5_uc003yks.1_Silent_p.V384V	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	384					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			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	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)			CTTTACTGCTGACAGCCAGAA	0.333		NaN											0	0	0	1	0	62	692				
TM7SF4	81501	broad.mit.edu	37	8	105361098	105361098	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361098C>A	uc003ylx.1	+	2	367	c.318C>A	c.(316-318)GTC>GTA	p.V106V		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	106	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGGGATCGTCATCTTGGGAC	0.438		NaN											1	0	1.45105e-14	1	1.64714e-14	17	193				
TM7SF4	81501	broad.mit.edu	37	8	105361151	105361151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:105361151G>A	uc003ylx.1	+	2	420	c.371G>A	c.(370-372)GGT>GAT	p.G124D		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	124					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCTAGATGGTATGACTTGC	0.418		NaN											0	0	0	1	0	28	230				
PKHD1L1	93035	broad.mit.edu	37	8	110456939	110456939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110456939C>T	uc003yne.2	+	38	4945	c.4841C>T	c.(4840-4842)TCA>TTA	p.S1614L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1614	Extracellular (Potential).|IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGAGGATTCAATTACATGT	0.383		NaN								HNSCC(38;0.096)			0	0	0	1	0	38	237				
PKHD1L1	93035	broad.mit.edu	37	8	110492237	110492237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:110492237G>A	uc003yne.2	+	55	9300	c.9196G>A	c.(9196-9198)GAC>AAC	p.D3066N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3066	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGTAGCTGACATAGATAT	0.338		NaN								HNSCC(38;0.096)			0	0	0	1	0	5	13				
COL14A1	7373	broad.mit.edu	37	8	121259858	121259858	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:121259858C>T	uc003yox.2	+	21	2751	c.2486C>T	c.(2485-2487)TCC>TTC	p.S829F	COL14A1_uc003yoy.2_Missense_Mutation_p.S507F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	829	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	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)			TCAGTACCATCCTCGGGGCCC	0.473		NaN											0	0	0	1	0	9	86				
WDR67	93594	broad.mit.edu	37	8	124153062	124153062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124153062G>A	uc003ypp.1	+	18	2651	c.2561G>A	c.(2560-2562)AGA>AAA	p.R854K	WDR67_uc011lig.1_Missense_Mutation_p.R823K|WDR67_uc011lih.1_Missense_Mutation_p.R744K|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R488K|WDR67_uc003ypt.1_Missense_Mutation_p.R311K|WDR67_uc003ypu.1_Missense_Mutation_p.R311K	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	854	Potential.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGCCTATAGACGAAAAGTG	0.338		NaN											0	0	0	1	0	20	101				
FBXO32	114907	broad.mit.edu	37	8	124516888	124516888	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:124516888C>G	uc003yqr.2	-	8	1126	c.934G>C	c.(934-936)GAT>CAT	p.D312H	FBXO32_uc003yqq.2_Missense_Mutation_p.D167H|FBXO32_uc010mdk.2_Missense_Mutation_p.D219H	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	312										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGAAGGGTATCTCCATACTGC	0.498		NaN											0	0	0	1	0	9	48				
ZC3H3	23144	broad.mit.edu	37	8	144620768	144620768	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144620768G>C	uc003yyd.2	-	2	798	c.769C>G	c.(769-771)CCA>GCA	p.P257A		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	257					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	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)			AGGAGCTGTGGAGCACAGCTG	0.667		NaN											0	0	0	1	0	17	51				
FAM83H	286077	broad.mit.edu	37	8	144810168	144810168	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144810168T>C	uc003yzk.2	-	5	1532	c.1463A>G	c.(1462-1464)GAC>GGC	p.D488G	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	488					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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)			CAGGGTGAAGTCATCCGGGTC	0.746		NaN											0	0	0	1	0	4	7				
SCRIB	23513	broad.mit.edu	37	8	144897387	144897387	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144897387G>A	uc003yzp.1	-	1	163	c.156C>T	c.(154-156)CCC>CCT	p.P52P	SCRIB_uc003yzo.1_Silent_p.P52P|MIR937_hsa-mir-937|MI0005759_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	52	LRR 1.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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)			CGCTCACCTTGGGCAGCTCGC	0.716		NaN											0	0	0	1	0	5	6				
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:144993918G>A	uc003zaf.1	-	32	10652	c.10482C>T	c.(10480-10482)CTC>CTT	p.L3494L	PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3494	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGATGCCGGCGAGGCAGCCAC	0.657		NaN											0	0	0	1	0	16	41				
PARP10	84875	broad.mit.edu	37	8	145059118	145059118	+	Missense_Mutation	SNP	G	G	C	rs148128554		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145059118G>C	uc003zal.3	-	5	1160	c.1052C>G	c.(1051-1053)TCG>TGG	p.S351W	PARP10_uc003zak.3_Missense_Mutation_p.S57W|PARP10_uc011lku.1_Missense_Mutation_p.S363W|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S351W|PARP10_uc010mfn.1_Missense_Mutation_p.S266W|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	351						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGGCATCGAGCTGACTTG	0.627		NaN											0	0	0	1	0	15	126				
CPSF1	29894	broad.mit.edu	37	8	145625827	145625827	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145625827C>T	uc003zcj.2	-	8	822	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	CPSF1_uc003zck.1_Silent_p.Q171Q|CPSF1_uc011lle.1_Silent_p.Q249Q|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.Q249Q	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	249					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTGCACCTTCTGCGTGATGT	0.647		NaN											0	0	0	1	0	6	79				
GPT	2875	broad.mit.edu	37	8	145729780	145729780	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145729780G>A	uc011lli.1	+	2	250	c.93G>A	c.(91-93)CGG>CGA	p.R31R	GPT_uc011llj.1_Silent_p.R31R|GPT_uc003zdh.3_Silent_p.R31R	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	31					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGCGTGTGCGGAGAGTGGAGT	0.672		NaN											0	0	0	1	0	5	22				
RECQL4	9401	broad.mit.edu	37	8	145739392	145739392	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr8:145739392C>T	uc003zdj.2	-	12	2010	c.1978G>A	c.(1978-1980)GAA>AAA	p.E660K		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	660	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	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)			TCAGGCTCTTCAGCCACAGCC	0.657		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	1	0	6	5				
KANK1	23189	broad.mit.edu	37	9	713026	713026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:713026G>A	uc003zgl.1	+	7	2909	c.2260G>A	c.(2260-2262)GTG>ATG	p.V754M	KANK1_uc003zgm.2_Missense_Mutation_p.V754M|KANK1_uc003zgn.1_Missense_Mutation_p.V754M|KANK1_uc003zgo.1_Missense_Mutation_p.V754M|KANK1_uc003zgp.1_Missense_Mutation_p.V754M|KANK1_uc003zgq.2_Missense_Mutation_p.V596M|KANK1_uc003zgr.1_Missense_Mutation_p.V596M|KANK1_uc003zgs.1_Missense_Mutation_p.V596M	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	754					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCATCAGCTGTGAAGACCAA	0.498		NaN											0	0	0	1	0	25	24				
GLDC	2731	broad.mit.edu	37	9	6595073	6595073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:6595073G>A	uc003zkc.2	-	9	1395	c.1202C>T	c.(1201-1203)TCC>TTC	p.S401F		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	401					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGCCCATGGGAACCATGGTA	0.418		NaN											0	0	0	1	0	34	123				
PTPRD	5789	broad.mit.edu	37	9	8484313	8484313	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:8484313G>A	uc003zkk.2	-	29	3930	c.3219C>T	c.(3217-3219)GTC>GTT	p.V1073V	PTPRD_uc003zkp.2_Silent_p.V662V|PTPRD_uc003zkq.2_Silent_p.V662V|PTPRD_uc003zkr.2_Silent_p.V657V|PTPRD_uc003zks.2_Silent_p.V652V|PTPRD_uc003zkl.2_Silent_p.V1064V|PTPRD_uc003zkm.2_Silent_p.V1060V|PTPRD_uc003zkn.2_Silent_p.V662V|PTPRD_uc003zko.2_Silent_p.V659V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1073	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		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)		GCTTCAGGTTGACAATTAACT	0.423		NaN								TSP Lung(15;0.13)			0	0	0	1	0	21	25				
ADAMTSL1	92949	broad.mit.edu	37	9	18657715	18657715	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:18657715G>C	uc003zne.3	+	8	1040	c.913G>C	c.(913-915)GAT>CAT	p.D305H	ADAMTSL1_uc003znb.2_Missense_Mutation_p.D305H|ADAMTSL1_uc003znc.3_Missense_Mutation_p.D305H	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	305						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGGAGACGGATTTCTTTCC	0.463		NaN											0	0	0	1	0	5	34				
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Nonsense_Mutation	SNP	G	G	T	rs141798398		TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:21974792G>T	uc003zpk.2	-	1	247	c.35C>A	c.(34-36)TCG>TAG	p.S12*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	12	ANK 1.				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 binding|protein kinase binding	p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		CCAGTCAGCCGAAGGCTCCAT	0.761		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			1	0	1.05317e-09	1	1.16403e-09	11	20		Valid		
ACO1	48	broad.mit.edu	37	9	32421006	32421006	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:32421006C>T	uc003zqw.3	+	8	1106	c.951C>T	c.(949-951)ATC>ATT	p.I317I	ACO1_uc010mjh.1_Silent_p.I151I|ACO1_uc003zqx.3_Silent_p.I317I|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	317					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AAGTTAGTATCACGTACCTGG	0.483		NaN											0	0	0	1	0	29	93				
GALT	2592	broad.mit.edu	37	9	34647665	34647665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34647665C>T	uc003zve.2	+	4	407	c.340C>T	c.(340-342)CAT>TAT	p.H114Y	GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.H66Y|GALT_uc011lop.1_Missense_Mutation_p.H66Y	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	114			H -> L (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCAGTGATCATCCCCTTTT	0.517		NaN							Galactosemia				0	0	0	1	0	6	31				
KIAA1045	23349	broad.mit.edu	37	9	34971533	34971533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:34971533G>A	uc003zvq.2	+	2	416	c.238G>A	c.(238-240)GAG>AAG	p.E80K	KIAA1045_uc003zvr.2_Missense_Mutation_p.E80K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	80							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			CGCAGCCTGGGAGCGGCTCCG	0.637		NaN											0	0	0	1	0	26	88				
SPAG8	26206	broad.mit.edu	37	9	35811936	35811936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:35811936G>A	uc003zye.2	-	2	222	c.107C>T	c.(106-108)TCA>TTA	p.S36L	SPAG8_uc003zyf.2_5'UTR|SPAG8_uc003zyg.2_Missense_Mutation_p.S36L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	36						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGTCATCTGAAGAAGGAAA	0.388		NaN											0	0	0	1	0	10	37				
FOXD4L3	286380	broad.mit.edu	37	9	70918850	70918850	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:70918850G>C	uc004agm.1	+	1	1068	c.983G>C	c.(982-984)AGA>ACA	p.R328T		NM_199135	NP_954586	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	328						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TCAGCATTGAGAGTATTATGC	0.632		NaN											0	0	0	1	0	20	96				
TJP2	9414	broad.mit.edu	37	9	71866215	71866215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:71866215G>A	uc004ahe.2	+	21	3456	c.3256G>A	c.(3256-3258)GAG>AAG	p.E1086K	TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.E1053K|TJP2_uc011lrv.1_Missense_Mutation_p.E1108K|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1086					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						CAAAATATTTGAGAAGATGGA	0.468		NaN											0	0	0	1	0	11	43				
HNRNPK	3190	broad.mit.edu	37	9	86586977	86586977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86586977C>G	uc004ang.3	-	11	997	c.773G>C	c.(772-774)AGA>ACA	p.R258T	HNRNPK_uc011lsw.1_Missense_Mutation_p.R18T|HNRNPK_uc004and.3_Missense_Mutation_p.R18T|HNRNPK_uc004ank.3_Missense_Mutation_p.R258T|HNRNPK_uc004anf.3_Missense_Mutation_p.R258T|HNRNPK_uc004anh.3_Missense_Mutation_p.R234T|HNRNPK_uc011lsx.1_Missense_Mutation_p.R234T|HNRNPK_uc004ani.3_Missense_Mutation_p.R258T|HNRNPK_uc004anj.3_Missense_Mutation_p.R258T|HNRNPK_uc004ann.3_Missense_Mutation_p.R234T|HNRNPK_uc004anl.3_Missense_Mutation_p.R258T|HNRNPK_uc004anm.3_Missense_Mutation_p.R258T|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	258	5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|Necessary for interaction with DDX1.|3-2.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|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|single-stranded DNA binding			skin(1)	1						AAAACCACCTCTTCCCCGCAT	0.507		NaN											0	0	0	1	0	8	69				
SLC28A3	64078	broad.mit.edu	37	9	86905100	86905100	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:86905100C>T	uc010mpz.2	-	11	1243	c.1118G>A	c.(1117-1119)GGA>GAA	p.G373E	SLC28A3_uc011lsy.1_Missense_Mutation_p.G304E|SLC28A3_uc004anu.1_Missense_Mutation_p.G373E	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	373	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						TAGCACGCTTCCAGCAATGGT	0.428		NaN											0	0	0	1	0	14	61				
DAPK1	1612	broad.mit.edu	37	9	90252913	90252913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:90252913G>A	uc004apc.2	+	4	478	c.340G>A	c.(340-342)GAG>AAG	p.E114K	DAPK1_uc004ape.2_Missense_Mutation_p.E114K|DAPK1_uc004apd.2_Missense_Mutation_p.E114K|DAPK1_uc011ltg.1_Missense_Mutation_p.E114K|DAPK1_uc011lth.1_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	114	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TTTAACTGAAGAGGAAGCAAC	0.413		NaN							Chronic_Lymphocytic_Leukemia_Familial_Clustering_of				0	0	0	1	0	27	45				
NOL8	55035	broad.mit.edu	37	9	95062233	95062233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95062233C>T	uc004arv.2	-	14	3578	c.3241G>A	c.(3241-3243)GAC>AAC	p.D1081N	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.D313N|NOL8_uc011ltw.1_Missense_Mutation_p.D1013N	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	1081					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						GAACTGCTGTCTTGTAAACGA	0.398		NaN											0	0	0	1	0	47	216				
ZNF484	83744	broad.mit.edu	37	9	95618484	95618484	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:95618484C>G	uc004asu.1	-	3	281	c.132G>C	c.(130-132)TTG>TTC	p.L44F	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.L46F|ZNF484_uc010mrb.1_Missense_Mutation_p.L8F|ZNF484_uc004asv.1_Missense_Mutation_p.L8F	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCACTGAGATCAAGTTGAAAT	0.428		NaN											0	0	0	1	0	15	110				
KIAA1529	57653	broad.mit.edu	37	9	100071729	100071729	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100071729A>C	uc011lut.1	+	15	1425	c.652A>C	c.(652-654)AAG>CAG	p.K218Q	KIAA1529_uc004axe.1_Missense_Mutation_p.K218Q|KIAA1529_uc004axg.1_Missense_Mutation_p.K79Q|KIAA1529_uc011lus.1_Missense_Mutation_p.K79Q|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.K79Q|KIAA1529_uc011luv.1_Missense_Mutation_p.K79Q	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GGCCACCAGGAAGCGGGCTGC	0.602		NaN											0	0	0	1	0	9	48				
TBC1D2	55357	broad.mit.edu	37	9	100963836	100963836	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:100963836G>A	uc011lvb.1	-	11	2562	c.2382C>T	c.(2380-2382)CTC>CTT	p.L794L	TBC1D2_uc004ayp.2_Silent_p.L334L|TBC1D2_uc004ayq.2_Silent_p.L794L|TBC1D2_uc004ayr.2_Silent_p.L576L|TBC1D2_uc004ayo.3_Silent_p.L794L	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	794	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAAGACCACGAGGAACCAGT	0.612		NaN											0	0	0	1	0	14	65				
PPP3R2	5535	broad.mit.edu	37	9	104356723	104356723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104356723C>T	uc004bbr.2	-	1	561	c.490G>A	c.(490-492)GAG>AAG	p.E164K	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	161	EF-hand 4.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	TTGTGGATCTCCAGGTCTCTG	0.478		NaN											0	0	0	1	0	10	77				
GRIN3A	116443	broad.mit.edu	37	9	104433061	104433061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:104433061C>G	uc004bbp.1	-	3	2234	c.1633G>C	c.(1633-1635)GAC>CAC	p.D545H	GRIN3A_uc004bbq.1_Missense_Mutation_p.D545H	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	545	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCATGGGGTCTAGACAGAGT	0.463		NaN											0	0	0	1	0	22	77				
CYLC2	1539	broad.mit.edu	37	9	105767661	105767661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:105767661G>A	uc004bbs.2	+	5	818	c.748G>A	c.(748-750)GAT>AAT	p.D250N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	250	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				TGGAAAAAAAGATGCAAACAA	0.368		NaN											0	0	0	1	0	8	55				
OR13C4	138804	broad.mit.edu	37	9	107288606	107288606	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107288606G>A	uc011lvn.1	-	1	885	c.885C>T	c.(883-885)ATC>ATT	p.I295I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	295	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCAAGCTATAGATTATGGGGT	0.403		NaN											0	0	0	1	0	14	76				
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:107564394G>C	uc004bcl.2	-	34	4952	c.4639C>G	c.(4639-4641)CCG>GCG	p.P1547A		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1547	Extracellular.				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			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTTGACTCGGAGGAAGTGCT	0.423		NaN											0	0	0	1	0	11	49				
C9orf5	23731	broad.mit.edu	37	9	111798489	111798489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:111798489G>A	uc004bdt.3	-	16	2428	c.2396C>T	c.(2395-2397)TCA>TTA	p.S799L	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.S791L	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	799						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		TACTTACCCTGATATGTCAGA	0.373		NaN											0	0	0	1	0	5	38				
EPB41L4B	54566	broad.mit.edu	37	9	112020527	112020527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112020527C>G	uc004bdz.1	-	7	977	c.682G>C	c.(682-684)GAG>CAG	p.E228Q	EPB41L4B_uc004bea.2_Missense_Mutation_p.E228Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	228	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						AACCGAAACTCAGACACAAGC	0.443		NaN											0	0	0	1	0	10	61				
PALM2	114299	broad.mit.edu	37	9	112705701	112705701	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:112705701T>C	uc004beg.2	+	7	1206	c.1136T>C	c.(1135-1137)ATG>ACG	p.M379T	PALM2_uc004bef.2_Missense_Mutation_p.M413T|PALM2_uc004beh.3_Missense_Mutation_p.M411T|PALM2-AKAP2_uc004bei.2_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001037293	NP_001032370	Q8IXS6	PALM2_HUMAN	paralemmin 2 isoform b	379					regulation of cell shape	plasma membrane				ovary(2)	2						TGTGTTGTCATGTGACCACTT	0.512		NaN											0	0	0	1	0	17	81				
HDHD3	81932	broad.mit.edu	37	9	116136283	116136283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:116136283C>G	uc004bhi.1	-	2	1136	c.352G>C	c.(352-354)GAG>CAG	p.E118Q	HDHD3_uc004bhj.2_Missense_Mutation_p.E118Q|HDHD3_uc004bhk.2_Missense_Mutation_p.E118Q	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	118							phosphoglycolate phosphatase activity|protein binding				0						AGGGTGTCCTCAGCCCCATCC	0.627		NaN											0	0	0	1	0	35	132				
DFNB31	25861	broad.mit.edu	37	9	117188609	117188609	+	Missense_Mutation	SNP	G	G	A	rs142990800	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117188609G>A	uc004biz.3	-	4	1697	c.1048C>T	c.(1048-1050)CGG>TGG	p.R350W	DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.R350W	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	350	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						ATGAGGTGCCGAGATGACTTA	0.587		NaN											0	0	0	1	0	9	54				
TNC	3371	broad.mit.edu	37	9	117826296	117826296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:117826296G>A	uc004bjj.3	-	12	3901	c.3539C>T	c.(3538-3540)GCC>GTC	p.A1180V	TNC_uc010mvf.2_Missense_Mutation_p.A1180V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1180	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						GAGTTTGAGGGCATCCCAGCC	0.522		NaN											0	0	0	1	0	45	152				
CDK5RAP2	55755	broad.mit.edu	37	9	123182069	123182069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:123182069G>C	uc004bkf.2	-	27	4355	c.4174C>G	c.(4174-4176)CAA>GAA	p.Q1392E	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.Q401E|CDK5RAP2_uc004bke.2_Missense_Mutation_p.Q677E|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.Q1392E|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc011lya.1_Missense_Mutation_p.Q657E|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.Q1162E|CDK5RAP2_uc004bki.2_Missense_Mutation_p.Q1159E	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1392					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			ovary(2)|lung(1)|skin(1)	4						AGCTTACCTTGAGAAAAACTG	0.373		NaN											0	0	0	1	0	16	96				
DAB2IP	153090	broad.mit.edu	37	9	124519389	124519389	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:124519389G>C	uc004bln.2	+	4	445	c.376G>C	c.(376-378)GAG>CAG	p.E126Q	DAB2IP_uc004blo.2_Missense_Mutation_p.E30Q	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	154	PH.				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			ovary(1)|central_nervous_system(1)	2						CATGGAGGAAGAGGTGGTCAT	0.637		NaN											0	0	0	1	0	12	37				
FAM102A	399665	broad.mit.edu	37	9	130705511	130705511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:130705511G>C	uc004bsx.1	-	11	1194	c.1115C>G	c.(1114-1116)TCT>TGT	p.S372C	FAM102A_uc004bsw.1_Missense_Mutation_p.S230C|FAM102A_uc004bsy.1_3'UTR	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN	early estrogen-induced gene 1 protein isoform a	372										ovary(1)	1						GACCCCAGAAGAGACCCTGCA	0.542		NaN									OREG0019513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	1	0	11	64				
ZER1	10444	broad.mit.edu	37	9	131497667	131497667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:131497667G>C	uc004bwa.1	-	14	2519	c.2086C>G	c.(2086-2088)CCT>GCT	p.P696A		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	696					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			ovary(1)	1						TGGCTGACAGGAGAGATTCCC	0.532		NaN											0	0	0	1	0	4	28				
POMT1	10585	broad.mit.edu	37	9	134381829	134381829	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:134381829G>C	uc004cav.2	+	4	471	c.269G>C	c.(268-270)AGA>ACA	p.R90T	POMT1_uc011mci.1_Missense_Mutation_p.R90T|POMT1_uc004cax.2_Missense_Mutation_p.R90T|POMT1_uc011mcj.1_Missense_Mutation_p.E8Q|POMT1_uc004cau.2_Missense_Mutation_p.R90T|POMT1_uc004caw.2_Missense_Mutation_p.R36T|POMT1_uc011mck.1_5'UTR|POMT1_uc011mcl.1_5'UTR|POMT1_uc011mcm.1_Missense_Mutation_p.Q54H	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	90					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGTGGAACAGAATTGGAGCA	0.294		NaN											0	0	0	1	0	37	146				
CEL	1056	broad.mit.edu	37	9	135940563	135940563	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135940563C>T	uc010naa.1	+	4	502	c.486C>T	c.(484-486)GTC>GTT	p.V162V		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	159					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			pancreas(1)	1				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)		TCATCGTGGTCACCTTCAACT	0.642		NaN											0	0	0	1	0	42	201				
CEL	1056	broad.mit.edu	37	9	135947125	135947125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:135947125C>T	uc010naa.1	+	11	2261	c.2245C>T	c.(2245-2247)CAG>TAG	p.Q749*		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	746					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			pancreas(1)	1				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)		CAAGGAAGCTCAGATGCCTGC	0.647		NaN											0	0	0	1	0	5	38				
ADAMTS13	11093	broad.mit.edu	37	9	136324273	136324273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:136324273C>T	uc004cdv.3	+	29	4699	c.4255C>T	c.(4255-4257)CAG>TAG	p.Q1419*	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Q1363*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Q1332*|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Q1089*|ADAMTS13_uc004ceb.3_Nonsense_Mutation_p.Q215*|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1419	CUB 2.				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			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCAGGACCCTCAGTCCTGGAA	0.587		NaN											0	0	0	1	0	7	15				
COL5A1	1289	broad.mit.edu	37	9	137704502	137704502	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:137704502G>A	uc004cfe.2	+	48	4178	c.3796G>A	c.(3796-3798)GAT>AAT	p.D1266N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1266	Triple-helical region.				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			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		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)		TCCAGGTGCTGATGGCCCACA	0.622		NaN											0	0	0	1	0	6	7				
LHX3	8022	broad.mit.edu	37	9	139090634	139090634	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139090634C>T	uc004cha.2	-	5	736	c.639G>A	c.(637-639)AAG>AAA	p.K213K	LHX3_uc004cgz.2_Silent_p.K218K	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	213	Homeobox.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TCTTCAGCCTCTTCTCCTTGG	0.721		NaN											0	0	0	1	0	7	24				
FBXW5	54461	broad.mit.edu	37	9	139836636	139836636	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139836636C>G	uc004cjx.2	-	6	1109	c.958G>C	c.(958-960)GAG>CAG	p.E320Q	FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.E68Q|FBXW5_uc004cjz.2_Missense_Mutation_p.E68Q	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	320							catalytic activity|protein binding				0	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)		AGCATGCGCTCCGACAGCTGT	0.697		NaN											0	0	0	1	0	4	5				
MAN1B1	11253	broad.mit.edu	37	9	139982608	139982608	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr9:139982608T>A	uc004cld.2	+	2	336	c.301T>A	c.(301-303)TAC>AAC	p.Y101N	MAN1B1_uc004clc.2_5'UTR|MAN1B1_uc011meo.1_5'UTR|MAN1B1_uc011mep.1_Missense_Mutation_p.Y101N|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	101	Helical; Signal-anchor for type II membrane protein; (Potential).				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			ovary(1)|central_nervous_system(1)	2	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)		ACTCCTCTTCTACATCAACTT	0.438		NaN											0	0	0	1	0	17	118				
ARSH	347527	broad.mit.edu	37	X	2942120	2942120	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:2942120C>A	uc011mhj.1	+	6	960	c.960C>A	c.(958-960)TTC>TTA	p.F320L		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	320						integral to membrane	arylsulfatase activity|metal ion binding			lung(1)	1		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)				TGGTGTACTTCACCTCTGACA	0.577		NaN											1	0	7.03913e-09	1	7.6857e-09	11	48				
ARSF	416	broad.mit.edu	37	X	3002382	3002382	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3002382C>G	uc004cre.1	+	6	726	c.505C>G	c.(505-507)CTC>GTC	p.L169V	ARSF_uc004crf.1_Missense_Mutation_p.L169V	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	169						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		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)				GCCGTTCACTCTCGTTGACAG	0.527		NaN											0	0	0	1	0	52	90				
PRKX	5613	broad.mit.edu	37	X	3530357	3530357	+	Missense_Mutation	SNP	C	C	T	rs139150166	byFrequency	TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:3530357C>T	uc010nde.2	-	8	1328	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	321	AGC-kinase C-terminal.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATCTTGGGCACGATGGGAGGC	0.537		NaN											0	0	0	1	0	5	31				
EGFL6	25975	broad.mit.edu	37	X	13635940	13635940	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:13635940G>T	uc004cvi.2	+	8	1110	c.870G>T	c.(868-870)ATG>ATT	p.M290I	EGFL6_uc004cvj.2_Missense_Mutation_p.M290I|EGFL6_uc011mik.1_Missense_Mutation_p.M191I	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	290					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2						AAAACAGCATGAAAAAGAAGG	0.418		NaN											1	0	1.31171e-36	1	1.52327e-36	68	117				
ACE2	59272	broad.mit.edu	37	X	15591524	15591524	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:15591524G>A	uc004cxa.1	-	11	1675	c.1507C>T	c.(1507-1509)CTG>TTG	p.L503L	ACE2_uc004cxb.2_Silent_p.L503L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	503	Extracellular (Potential).				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			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACATGGAACAGAGATGCGGGG	0.423		NaN											0	0	0	1	0	53	135				
REPS2	9185	broad.mit.edu	37	X	17080621	17080621	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:17080621C>T	uc004cxv.1	+	9	1346	c.1175C>T	c.(1174-1176)GCA>GTA	p.A392V	REPS2_uc004cxw.1_Missense_Mutation_p.A391V|REPS2_uc011miw.1_Missense_Mutation_p.A251V	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	392					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					TCACTGCCGGCAAATCAACAA	0.358		NaN											0	0	0	1	0	18	60				
PHKA2	5256	broad.mit.edu	37	X	18913260	18913260	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:18913260C>T	uc004cyv.3	-	31	3762	c.3332G>A	c.(3331-3333)CGA>CAA	p.R1111Q	PHKA2_uc004cyu.3_Missense_Mutation_p.R417Q|PHKA2_uc010nfe.1_Missense_Mutation_p.R143Q|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1111			R -> RTR (in GSD9A; type 2).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					TCGTACCTCTCGGGTCGTCGA	0.532		NaN											0	0	0	1	0	45	131				
EIF2S3	1968	broad.mit.edu	37	X	24086216	24086216	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:24086216G>A	uc004dbc.2	+	9	1024	c.1003G>A	c.(1003-1005)GGT>AGT	p.G335S		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	335						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1						TGCTCCAGGCGGTCTTATTGG	0.363		NaN											0	0	0	1	0	24	63				
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:30873150C>G	uc004dcj.2	-	6	1295	c.632G>C	c.(631-633)AGA>ACA	p.R211T	TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	211	Pro-rich.				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			ovary(1)	1						TTGTAAAGCTCTTGGTACAGT	0.423		NaN											0	0	0	1	0	25	52				
ATP6AP2	10159	broad.mit.edu	37	X	40460059	40460059	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:40460059G>C	uc004det.2	+	8	886	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E186Q|ATP6AP2_uc011mkm.1_Missense_Mutation_p.E230Q|ATP6AP2_uc011mkn.1_Missense_Mutation_p.E184Q|ATP6AP2_uc004deu.1_Missense_Mutation_p.E127Q	NM_005765	NP_005756	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory	262	Extracellular (Potential).				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity				0						TGCAGTGGTAGAGTTAGTCAC	0.373		NaN											0	0	0	1	0	19	68				
USP9X	8239	broad.mit.edu	37	X	41010204	41010204	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:41010204G>C	uc004dfb.2	+	13	2290	c.1657G>C	c.(1657-1659)GAT>CAT	p.D553H	USP9X_uc004dfc.2_Missense_Mutation_p.D553H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	553					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			lung(3)|breast(2)|ovary(1)	6						CCAATGGATAGATCGCTTTAT	0.318		NaN											0	0	0	1	0	5	20				
ZNF157	7712	broad.mit.edu	37	X	47270104	47270104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47270104G>A	uc004dhr.1	+	3	294	c.225G>A	c.(223-225)ATG>ATA	p.M75I		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	75	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AACCAGAGATGATCTTCAAGT	0.527		NaN											0	0	0	1	0	5	9				
ZNF41	7592	broad.mit.edu	37	X	47307918	47307918	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:47307918C>T	uc004dhs.3	-	4	1444	c.1377G>A	c.(1375-1377)GGG>GGA	p.G459G	ZNF41_uc004dhu.3_Silent_p.G451G|ZNF41_uc004dht.3_Silent_p.G331G|ZNF41_uc004dhv.3_Silent_p.G427G|ZNF41_uc004dhw.3_Silent_p.G419G|ZNF41_uc004dhy.3_Silent_p.G417G|ZNF41_uc004dhx.3_Silent_p.G417G|ZNF41_uc011mlm.1_Silent_p.G331G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	459	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				TGAAAGCCTTCCCACATTCAT	0.453		NaN											0	0	0	1	0	16	129				
FTSJ1	24140	broad.mit.edu	37	X	48340027	48340027	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48340027C>T	uc004djo.1	+	9	902	c.579C>T	c.(577-579)TTC>TTT	p.F193F	FTSJ1_uc004djl.2_Silent_p.F193F|FTSJ1_uc004djm.2_Silent_p.F193F|FTSJ1_uc004djn.1_Silent_p.F193F|FTSJ1_uc004djp.1_Silent_p.F193F|FTSJ1_uc011mlw.1_Silent_p.F56F	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	193					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding				0						CAGAGGCCTTCGCTGTCTGTC	0.647		NaN											0	0	0	1	0	7	19				
GRIPAP1	56850	broad.mit.edu	37	X	48837884	48837884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48837884C>T	uc004dly.1	-	20	1809	c.1774G>A	c.(1774-1776)GAG>AAG	p.E592K	GRIPAP1_uc004dlz.2_Missense_Mutation_p.E482K|GRIPAP1_uc004dma.2_Missense_Mutation_p.E513K	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1 isoform 1	592	Potential.					early endosome				breast(2)|kidney(1)	3						TCCTTCACCTCCTGTGGGAGA	0.612		NaN											0	0	0	1	0	4	29				
WDR45	11152	broad.mit.edu	37	X	48933303	48933303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:48933303G>C	uc004dmk.1	-	8	798	c.626C>G	c.(625-627)TCA>TGA	p.S209*	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Nonsense_Mutation_p.S107*|WDR45_uc004dmj.1_Nonsense_Mutation_p.S170*|WDR45_uc004dml.1_Nonsense_Mutation_p.S210*|WDR45_uc004dmm.1_Nonsense_Mutation_p.S174*|WDR45_uc010nim.1_Nonsense_Mutation_p.S209*|WDR45_uc004dmn.1_Nonsense_Mutation_p.S100*|WDR45_uc004dmo.1_Nonsense_Mutation_p.S232*|WDR45_uc004dmp.1_Nonsense_Mutation_p.S210*	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	209	WD 2.				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	p.S210*(1)		ovary(1)	1						CTGGGAGGCTGAGGCCACTAC	0.557		NaN											0	0	0	1	0	23	26				
ZXDB	158586	broad.mit.edu	37	X	57620058	57620058	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:57620058C>A	uc004dvd.2	+	1	1790	c.1577C>A	c.(1576-1578)TCT>TAT	p.S526Y		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	526	Required for interaction with ZXDC (By similarity).|C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						GCCAGGTTCTCTGCTCGCAGT	0.517		NaN											1	0	1.33834e-09	1	1.47404e-09	10	65				
KIF4A	24137	broad.mit.edu	37	X	69521860	69521860	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69521860G>A	uc004dyg.2	+	6	754	c.627G>A	c.(625-627)TCG>TCA	p.S209S	KIF4A_uc010nkw.2_Silent_p.S209S|KIF4A_uc004dyf.1_Silent_p.S209S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	209	Kinesin-motor.				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			ovary(4)	4						ACTCCCAGTCGTCCCGATCTC	0.413		NaN											0	0	0	1	0	6	96				
GDPD2	54857	broad.mit.edu	37	X	69646312	69646312	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:69646312C>T	uc004dyh.2	+	6	706	c.455C>T	c.(454-456)TCA>TTA	p.S152L	GDPD2_uc010nkx.1_Missense_Mutation_p.S152L|GDPD2_uc010nky.1_5'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.S152L|GDPD2_uc011mpl.1_Missense_Mutation_p.S73L|GDPD2_uc011mpm.1_Missense_Mutation_p.S73L	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	152	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)					TTGCGTGTGTCACTGCAGGTG	0.592		NaN											0	0	0	1	0	14	17				
MED12	9968	broad.mit.edu	37	X	70360539	70360539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:70360539G>A	uc004dyy.2	+	42	6298	c.6099G>A	c.(6097-6099)ATG>ATA	p.M2033I	MED12_uc004dyz.2_Missense_Mutation_p.M2032I|MED12_uc004dza.2_Missense_Mutation_p.M1883I|MED12_uc010nla.2_Missense_Mutation_p.M662I	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2033	Gln-rich.|Interaction with CTNNB1 and GLI3.				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			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					TGACTCCAATGAGTGCCCAGG	0.413		NaN											0	0	0	1	0	27	108				
ATP7A	538	broad.mit.edu	37	X	77244136	77244136	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:77244136G>A	uc004ecx.3	+	3	679	c.519G>A	c.(517-519)CTG>CTA	p.L173L	ATP7A_uc004ecw.2_Silent_p.L173L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	173	HMA 2.|Cytoplasmic (Potential).				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|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				0						AAGTCGTGCTGAAGATGAAAG	0.433		NaN											0	0	0	1	0	52	253				
ITM2A	9452	broad.mit.edu	37	X	78616609	78616609	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:78616609C>G	uc004edh.2	-	6	1104	c.769G>C	c.(769-771)GAG>CAG	p.E257Q	ITM2A_uc011mqr.1_Missense_Mutation_p.E213Q	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	257						integral to membrane	protein binding			lung(2)	2						ATCTTGGTCTCAACAATAAAT	0.363		NaN											0	0	0	1	0	13	29				
BRWD3	254065	broad.mit.edu	37	X	79932201	79932201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:79932201C>G	uc004edt.2	-	41	5579	c.5316G>C	c.(5314-5316)GAG>GAC	p.E1772D	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E1368D|BRWD3_uc004edp.2_Missense_Mutation_p.E1601D|BRWD3_uc004edq.2_Missense_Mutation_p.E1368D|BRWD3_uc010nmj.1_Missense_Mutation_p.E1368D|BRWD3_uc004edr.2_Missense_Mutation_p.E1442D|BRWD3_uc004eds.2_Missense_Mutation_p.E1368D|BRWD3_uc004edu.2_Missense_Mutation_p.E1442D|BRWD3_uc004edv.2_Missense_Mutation_p.E1368D|BRWD3_uc004edw.2_Missense_Mutation_p.E1368D|BRWD3_uc004edx.2_Missense_Mutation_p.E1368D|BRWD3_uc004edy.2_Missense_Mutation_p.E1368D|BRWD3_uc004edz.2_Missense_Mutation_p.E1442D|BRWD3_uc004eea.2_Missense_Mutation_p.E1442D|BRWD3_uc004eeb.2_Missense_Mutation_p.E1368D|uc004edn.1_5'Flank	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1772										ovary(4)	4						TCAGAGGATCCTCAGTGGACA	0.398		NaN											0	0	0	1	0	10	52				
CYLC1	1538	broad.mit.edu	37	X	83127893	83127893	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:83127893G>A	uc004eei.1	+	4	199	c.178_splice	c.e4-1	p.R60_splice	CYLC1_uc004eeh.1_Splice_Site_p.R59_splice	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head						cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						AATCTTTTCAGAGACATGACA	0.294		NaN											0	0	0	1	0	4	16				
TCEAL1	9338	broad.mit.edu	37	X	102885010	102885010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:102885010G>A	uc004eks.2	+	3	340	c.166G>A	c.(166-168)GAG>AAG	p.E56K	TCEAL1_uc004ekt.2_Missense_Mutation_p.E56K|TCEAL1_uc004eku.2_Missense_Mutation_p.E56K	NM_001006640	NP_001006641	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTCTTGCCTGAGCTCCTGCC	0.642		NaN											0	0	0	1	0	11	30				
ZCCHC18	644353	broad.mit.edu	37	X	103359457	103359457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:103359457G>T	uc011msh.1	+	3	1971	c.655G>T	c.(655-657)GAA>TAA	p.E219*	MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	219							nucleic acid binding|zinc ion binding				0						GATAAGGGAGGAAGAGGATTG	0.502		NaN											1	0	0.00909568	1	0.00919788	4	33				
TRPC5	7224	broad.mit.edu	37	X	111019659	111019659	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111019659G>A	uc004epl.1	-	11	3723	c.2804C>T	c.(2803-2805)TCA>TTA	p.S935L		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	935	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						TTTAGAATTTGAGGAGCAGAT	0.483		NaN											0	0	0	1	0	7	52				
ZCCHC16	340595	broad.mit.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:111698393C>G	uc004epo.1	+	3	878	c.437C>G	c.(436-438)CCT>CGT	p.P146R		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding|zinc ion binding	p.P146L(1)		ovary(1)	1						GAAATCAATCCTCTGATGAAT	0.418		NaN											0	0	0	1	0	16	127				
WDR44	54521	broad.mit.edu	37	X	117576550	117576550	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117576550C>G	uc004eqn.2	+	17	2716	c.2291C>G	c.(2290-2292)TCC>TGC	p.S764C	WDR44_uc004eqo.2_Missense_Mutation_p.S764C|WDR44_uc011mtr.1_Missense_Mutation_p.S675C|WDR44_uc010nqi.2_Missense_Mutation_p.S474C	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	764	WD 5.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						TCAAATGACTCCAGAATCAGA	0.338		NaN											0	0	0	1	0	25	49				
DOCK11	139818	broad.mit.edu	37	X	117679988	117679988	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117679988C>T	uc004eqp.2	+	6	530	c.467C>T	c.(466-468)TCA>TTA	p.S156L		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	156					blood coagulation	cytosol	GTP binding			ovary(3)	3						TTTCAGGACTCATCTTCTTTA	0.408		NaN											0	0	0	1	0	23	63				
DOCK11	139818	broad.mit.edu	37	X	117761530	117761530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:117761530G>A	uc004eqp.2	+	33	3715	c.3652G>A	c.(3652-3654)GAC>AAC	p.D1218N	DOCK11_uc004eqq.2_Missense_Mutation_p.D997N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1218					blood coagulation	cytosol	GTP binding			ovary(3)	3						TCTGAGCACTGACAAAGACAC	0.383		NaN											0	0	0	1	0	12	96				
ZBTB33	10009	broad.mit.edu	37	X	119387705	119387705	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:119387705G>A	uc004esn.1	+	2	663	c.435G>A	c.(433-435)AAG>AAA	p.K145K	ZBTB33_uc010nqm.1_Silent_p.K145K	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	145					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						CTGGTGACAAGAACCTTGTAA	0.403		NaN											0	0	0	1	0	10	54				
CT47B1	643311	broad.mit.edu	37	X	120009116	120009116	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:120009116G>A	uc011muc.1	-	1	664	c.409C>T	c.(409-411)CAC>TAC	p.H137Y		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 147, member B1	137											0						TGGTCGTTGTGATAGAGGCGG	0.652		NaN											0	0	0	1	0	10	59				
STAG2	10735	broad.mit.edu	37	X	123179197	123179197	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:123179197C>A	uc004etz.3	+	7	985	c.646C>A	c.(646-648)CGA>AGA	p.R216R	STAG2_uc004eua.2_Silent_p.R216R|STAG2_uc004eub.2_Silent_p.R216R|STAG2_uc004euc.2_Silent_p.R216R|STAG2_uc004eud.2_Silent_p.R216R|STAG2_uc004eue.2_Silent_p.R216R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CAGAGCATTTCGACATACAAG	0.343		NaN											1	0	2.16136e-38	1	2.51228e-38	83	139				
DCAF12L2	340578	broad.mit.edu	37	X	125299590	125299590	+	Silent	SNP	C	C	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:125299590C>A	uc004euk.1	-	1	345	c.318G>T	c.(316-318)CTG>CTT	p.L106L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	106										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GCCTGGCGTTCAGCCACTGTG	0.652		NaN											1	0	0.0477658	1	0.0481479	8	75				
UTP14A	10813	broad.mit.edu	37	X	129053376	129053376	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:129053376G>A	uc004euz.2	+	8	691	c.663G>A	c.(661-663)AAG>AAA	p.K221K	UTP14A_uc011mup.1_Silent_p.K169K|UTP14A_uc011muq.1_Silent_p.K167K|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	221	Potential.				rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2						TGTAGGCAAAGATGCGACGAG	0.517		NaN											0	0	0	1	0	43	85				
AFF2	2334	broad.mit.edu	37	X	147919173	147919173	+	Silent	SNP	G	G	A			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:147919173G>A	uc004fcp.2	+	5	1568	c.1089G>A	c.(1087-1089)GAG>GAA	p.E363E	AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.E359E|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	363					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATTAGGAGATGACCCATT	0.413		NaN											0	0	0	1	0	6	61				
IDS	3423	broad.mit.edu	37	X	148571931	148571931	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:148571931A>G	uc011mxe.1	-	7	1118	c.920T>C	c.(919-921)TTG>TCG	p.L307S	IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.L217S|IDS_uc011mxg.1_Missense_Mutation_p.L96S|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.L96S|IDS_uc011mxh.1_Missense_Mutation_p.L307S|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	307						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTGTATCCAAATATGACAC	0.433		NaN											0	0	0	1	0	20	91				
MTMR1	8776	broad.mit.edu	37	X	149867721	149867721	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:149867721C>T	uc004fei.2	+	2	335	c.200C>T	c.(199-201)TCT>TTT	p.S67F	MTMR1_uc011mya.1_5'UTR|MTMR1_uc004feg.1_Missense_Mutation_p.S67F|MTMR1_uc004feh.1_Missense_Mutation_p.S67F|MTMR1_uc004fej.2_RNA	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	myotubularin-related protein 1	67						plasma membrane	protein tyrosine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GCTACAATTTCTAGTCAGATT	0.353		NaN											0	0	0	1	0	18	86				
RENBP	5973	broad.mit.edu	37	X	153205672	153205672	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153205672C>T	uc004fjo.1	-	9	1130	c.960G>A	c.(958-960)ATG>ATA	p.M320I		NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	320					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	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)	ACCAGAGCTTCATGGCCCACT	0.602		NaN											0	0	0	1	0	11	51				
RENBP	5973	broad.mit.edu	37	X	153207433	153207433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:153207433G>T	uc004fjo.1	-	7	909	c.739C>A	c.(739-741)CCT>ACT	p.P247T	RENBP_uc011mzh.1_Intron	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	247					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	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)	AGGCAGCCAGGAAGTTCCTTG	0.632		NaN											1	0	1.30475e-32	1	1.5138e-32	39	80				
IL9R	3581	broad.mit.edu	37	X	155232650	155232650	+	Silent	SNP	C	C	T			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:155232650C>T	uc004fnv.1	+	2	287	c.108C>T	c.(106-108)GTC>GTT	p.V36V	IL9R_uc010nvn.2_Silent_p.V15V|IL9R_uc004fnu.1_Silent_p.V83V	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	36					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	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)					GCACCTGTGTCTGCTTGGGAG	0.607		NaN											0	0	0	1	0	12	113				
MIPEP	4285	broad.mit.edu	37	13	24460591	24460591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:24460591delC	uc001uox.3	-	2	344	c.244delG	c.(244-246)GAAfs	p.E82fs	PCOTH_uc001uoy.2_5'Flank	NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	82					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGGCTTTTTCTTGTGCAATA	0.453		NaN											NaN	NaN	NaN	NaN	NaN	21	101	---		---	---
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr13:110435129delG	uc001vqv.2	-	1	3786	c.3272delC	c.(3271-3273)CCGfs	p.P1091fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TTCTGGCTTCGGGGGGGCCGC	0.682		NaN											NaN	NaN	NaN	NaN	NaN	3	5	---		---	---
SLC35B2	347734	broad.mit.edu	37	6	44222852	44222856	+	Frame_Shift_Del	DEL	ATCTT	ATCTT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:44222852_44222856delATCTT	uc003oxd.2	-	4	1022_1026	c.886_890delAAGAT	c.(886-891)AAGATGfs	p.K296fs	SLC35B2_uc011dvt.1_Frame_Shift_Del_p.K199fs|SLC35B2_uc011dvu.1_Frame_Shift_Del_p.K163fs	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	296_297					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	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)			CACCGATGACATCTTATAGGCAAAC	0.532		NaN											NaN	NaN	NaN	NaN	NaN	7	55	---		---	---
PRIM2	5558	broad.mit.edu	37	6	57512639	57512640	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chr6:57512639_57512640delTT	uc003pdx.2	+	15	1554_1555	c.1467_1468delTT	c.(1465-1470)TCTTTAfs	p.S489fs		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	489_490					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				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTCTGGCCTCTTTAAATTCCTC	0.411		NaN											NaN	NaN	NaN	NaN	NaN	30	496	---		---	---
HUWE1	10075	broad.mit.edu	37	X	53655540	53655540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3X1-01A-12D-A22Z-08	TCGA-DK-A3X1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91af229-2799-4767-8354-c837196d9224	bb1cef54-4751-40af-ba45-43a9a313bc89	g.chrX:53655540delA	uc004dsp.2	-	15	1548	c.1146delT	c.(1144-1146)TTTfs	p.F382fs		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	382					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			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GAGCAGTGGCAAACTGGTGAG	0.478		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
