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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
DNMBP	23268	broad.mit.edu	37	10	101648710	101648710	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101648710C>A	uc001kqj.2	-	c.3157G>T	c.(3157-3159)GAG>TAG	p.E1053*	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Nonsense_Mutation_p.E341*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.E685*	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1053	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.392857	30.421914	30.702152	11	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101648710	101648710	4857	10	C	A	A	A	390	30	DNMBP	5	2
CHUK	1147	broad.mit.edu	37	10	101959779	101959779	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101959779T>C	uc001kqp.2	-	c.1680_splice	c.e16-1	p.L560_splice		NM_001278	NP_001269			conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		Ovarian(159;52 1904 10536 35305 37148)				415				0.369565	53.830124	54.529707	17	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101959779	101959779	3550	10	T	C	C	C	689	53	CHUK	5	4
DCLRE1A	9937	broad.mit.edu	37	10	115612691	115612691	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115612691C>A	uc001law.2	-	c.251G>T	c.(250-252)TGT>TTT	p.C84F	NHLRC2_uc001lax.1_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	84	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(1)	1				Epithelial(162;0.0157)|all cancers(201;0.0171)										0.41573	108.749826	109.302676	37	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115612691	115612691	4465	10	C	A	A	A	221	17	DCLRE1A	2	2
PNLIPRP1	5407	broad.mit.edu	37	10	118354340	118354340	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118354340G>T	uc001lco.1	+	c.429G>T	c.(427-429)GTG>GTT	p.V143V	PNLIPRP1_uc001lcp.2_Silent_p.V143V|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	143					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.571429	24.800651	24.862705	8	6	KEEP	---	---	---	---	capture		Silent	SNP	118354340	118354340	12576	10	G	T	T	T	600	47	PNLIPRP1	2	2
SEC23IP	11196	broad.mit.edu	37	10	121689157	121689157	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121689157G>C	uc001leu.1	+	c.2352G>C	c.(2350-2352)GAG>GAC	p.E784D	SEC23IP_uc010qtc.1_Missense_Mutation_p.E573D|SEC23IP_uc009xzk.1_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	784	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)										0.428571	69.767525	69.985572	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121689157	121689157	14479	10	G	C	C	C	425	33	SEC23IP	3	3
ZRANB1	54764	broad.mit.edu	37	10	126631393	126631393	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126631393C>T	uc010qug.1	+	c.409C>T	c.(409-411)CGT>TGT	p.R137C	ZRANB1_uc001lic.2_Missense_Mutation_p.R111C	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	111	RanBP2-type 2.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)										0.305085	48.529907	50.528407	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126631393	126631393	18826	10	C	T	T	T	247	19	ZRANB1	1	1
ARMC3	219681	broad.mit.edu	37	10	23321835	23321835	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23321835A>T	uc001irm.3	+	c.2292A>T	c.(2290-2292)CTA>CTT	p.L764L	ARMC3_uc010qcv.1_Silent_p.L757L|ARMC3_uc010qcw.1_Silent_p.L501L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	764							binding				0														0.413793	36.19578	36.383676	12	17	KEEP	---	---	---	---	capture		Silent	SNP	23321835	23321835	970	10	A	T	T	T	171	14	ARMC3	3	3
ZEB1	6935	broad.mit.edu	37	10	31816100	31816100	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31816100G>C	uc001ivu.3	+	c.3286G>C	c.(3286-3288)GAT>CAT	p.D1096H	ZEB1_uc001ivr.3_Missense_Mutation_p.D877H|ZEB1_uc010qee.1_Missense_Mutation_p.D877H|ZEB1_uc010qef.1_Missense_Mutation_p.D877H|ZEB1_uc001ivs.3_Missense_Mutation_p.D1095H|ZEB1_uc001ivt.3_Missense_Mutation_p.D877H|ZEB1_uc001ivv.3_Missense_Mutation_p.D1075H|ZEB1_uc010qeh.1_Missense_Mutation_p.D1028H|ZEB1_uc009xlp.2_Missense_Mutation_p.D1079H	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1095	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.25641	28.051192	30.136789	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31816100	31816100	18211	10	G	C	C	C	533	41	ZEB1	3	3
DIP2C	22982	broad.mit.edu	37	10	436004	436004	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:436004C>A	uc001ifp.2	-	c.1524G>T	c.(1522-1524)CTG>CTT	p.L508L	DIP2C_uc009xhj.1_Silent_p.L204L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	508						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.679104	291.965534	295.794295	91	43	KEEP	---	---	---	---	capture		Silent	SNP	436004	436004	4708	10	C	A	A	A	262	21	DIP2C	2	2
CCDC6	8030	broad.mit.edu	37	10	61665930	61665930	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61665930T>C	uc001jks.3	-	c.253A>G	c.(253-255)AAG>GAG	p.K85E		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	85	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)	3				Kidney(211;0.0597)						179				0.37037	30.943553	31.341959	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61665930	61665930	2953	10	T	C	C	C	819	63	CCDC6	4	4
STAMBPL1	57559	broad.mit.edu	37	10	90733067	90733067	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90733067C>A	uc010qmx.1	+	c.1383C>A	c.(1381-1383)CTC>CTA	p.L461L	ACTA2_uc001kfq.2_Intron|FAS_uc010qna.1_Non-coding_Transcript	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	Error:Variant_position_missing_in_Q96FJ0_after_alignment							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)										0.513514	58.324564	58.33041	19	18	KEEP	---	---	---	---	capture		Silent	SNP	90733067	90733067	15770	10	C	A	A	A	404	32	STAMBPL1	2	2
HTR7	3363	broad.mit.edu	37	10	92509079	92509079	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:92509079G>A	uc001kha.2	-	c.812C>T	c.(811-813)GCC>GTC	p.A271V	HTR7_uc001kgz.2_Missense_Mutation_p.A271V|HTR7_uc001khb.2_Missense_Mutation_p.A271V	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	271	Cytoplasmic (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)									0.333333	13.269841	13.63893	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92509079	92509079	7752	10	G	A	A	A	546	42	HTR7	2	2
CNTN5	53942	broad.mit.edu	37	11	100126553	100126553	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100126553G>C	uc001pga.2	+	c.2067G>C	c.(2065-2067)CTG>CTC	p.L689L	CNTN5_uc001pfz.2_Silent_p.L689L|CNTN5_uc001pgb.2_Silent_p.L615L|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	689	Fibronectin type-III 1.				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)						1117				0.375	72.769513	73.652103	24	40	KEEP	---	---	---	---	capture		Silent	SNP	100126553	100126553	3782	11	G	C	C	C	613	48	CNTN5	3	3
MMP8	4317	broad.mit.edu	37	11	102585401	102585401	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102585401T>G	uc001phe.2	-	c.1076A>C	c.(1075-1077)CAA>CCA	p.Q359P	MMP8_uc010rut.1_Intron|MMP8_uc010ruu.1_Missense_Mutation_p.Q336P	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	359	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)						426				0.294118	28.444161	29.729503	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102585401	102585401	10059	11	T	G	G	G	819	63	MMP8	4	4
USP28	57646	broad.mit.edu	37	11	113677221	113677221	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113677221C>A	uc001poh.2	-	c.2390G>T	c.(2389-2391)GGG>GTG	p.G797V	USP28_uc001pog.2_Intron|USP28_uc010rwy.1_Intron|USP28_uc001poi.2_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	797					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)	5		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)								0.526316	31.147388	31.158645	10	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113677221	113677221	17622	11	C	A	A	A	286	22	USP28	2	2
AMICA1	120425	broad.mit.edu	37	11	118065129	118065129	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118065129G>T	uc001psk.2	-	c.1096C>A	c.(1096-1098)CCA>ACA	p.P366T	AMICA1_uc001psg.2_Missense_Mutation_p.P176T|AMICA1_uc001psh.2_Missense_Mutation_p.P327T|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.P356T|AMICA1_uc001psj.2_Missense_Mutation_p.P355T|AMICA1_uc010rxw.1_Missense_Mutation_p.P327T	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	366	Cytoplasmic (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)										0.368421	38.431419	39.012802	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118065129	118065129	577	11	G	T	T	T	559	43	AMICA1	2	2
TECTA	7007	broad.mit.edu	37	11	120998996	120998996	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120998996G>T	uc010rzo.1	+	c.2310G>T	c.(2308-2310)CGG>CGT	p.R770R		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	770	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.208333	8.273167	10.165943	5	19	KEEP	---	---	---	---	capture		Silent	SNP	120998996	120998996	16274	11	G	T	T	T	522	41	TECTA	2	2
RPUSD4	84881	broad.mit.edu	37	11	126081354	126081354	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126081354C>A	uc001qde.2	-	c.180G>T	c.(178-180)AAG>AAT	p.K60N	FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.K60N|RPUSD4_uc009zby.2_Non-coding_Transcript	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	60	Potential.				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)	1	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)										0.269841	39.31813	42.354183	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126081354	126081354	14149	11	C	A	A	A	415	32	RPUSD4	2	2
IGSF9B	22997	broad.mit.edu	37	11	133790155	133790155	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:133790155C>A	uc001qgx.3	-	c.3465G>T	c.(3463-3465)CCG>CCT	p.P1155P		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1155	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)										0.571429	11.287031	11.316522	4	3	KEEP	---	---	---	---	capture		Silent	SNP	133790155	133790155	7907	11	C	A	A	A	288	23	IGSF9B	1	1
NCAPD3	23310	broad.mit.edu	37	11	134047240	134047240	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134047240C>G	uc001qhd.1	-	c.2895G>C	c.(2893-2895)ATG>ATC	p.M965I	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	965					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|lung(1)|kidney(1)	4	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)						861				0.321429	51.825906	53.414383	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134047240	134047240	10605	11	C	G	G	G	221	17	NCAPD3	3	3
IGSF22	283284	broad.mit.edu	37	11	18737215	18737215	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18737215T>A	uc009yht.2	-	c.1295A>T	c.(1294-1296)GAG>GTG	p.E432V	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	432	Ig-like 3.									ovary(4)|large_intestine(2)|kidney(1)	7														0.383562	77.879726	78.74833	28	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18737215	18737215	7901	11	T	A	A	A	702	54	IGSF22	3	3
LRP4	4038	broad.mit.edu	37	11	46921927	46921927	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46921927G>T	uc001ndn.3	-	c.202C>A	c.(202-204)CTA>ATA	p.L68I	LRP4_uc009ylh.1_Missense_Mutation_p.L19I	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	68	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1				Lung(87;0.159)										0.115789	11.812307	25.579968	11	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46921927	46921927	9332	11	G	T	T	T	464	36	LRP4	2	2
OR51G2	81282	broad.mit.edu	37	11	4936211	4936211	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936211C>A	uc001lzr.1	-	c.683G>T	c.(682-684)CGC>CTC	p.R228L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.392857	34.043917	34.316602	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4936211	4936211	11509	11	C	A	A	A	351	27	OR51G2	1	1
OR52A4	390053	broad.mit.edu	37	11	5142800	5142800	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5142800C>A	uc001lzz.1	-	c.9G>T	c.(7-9)CTG>CTT	p.L3L	OR52A4_uc001maa.2_Non-coding_Transcript	NM_001005222	NP_001005222	A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.274725	134.485215	142.795348	50	132	KEEP	---	---	---	---	capture		Silent	SNP	5142800	5142800	11519	11	C	A	A	A	314	25	OR52A4	2	2
OR51V1	283111	broad.mit.edu	37	11	5221887	5221887	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221887G>A	uc010qyz.1	-	c.44C>T	c.(43-45)ACC>ATC	p.T15I		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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)										0.383333	65.308893	66.025449	23	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221887	5221887	11517	11	G	A	A	A	572	44	OR51V1	2	2
OR51I1	390063	broad.mit.edu	37	11	5462058	5462058	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5462058G>T	uc010qze.1	-	c.687C>A	c.(685-687)GTC>GTA	p.V229V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.447368	49.266684	49.358746	17	21	KEEP	---	---	---	---	capture		Silent	SNP	5462058	5462058	11510	11	G	T	T	T	574	45	OR51I1	2	2
OR5L2	26338	broad.mit.edu	37	11	55595287	55595287	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595287T>A	uc001nhy.1	+	c.593T>A	c.(592-594)CTG>CAG	p.L198Q		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.31405	107.311896	111.032064	38	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55595287	55595287	11581	11	T	A	A	A	715	55	OR5L2	3	3
OR5D16	390144	broad.mit.edu	37	11	55606547	55606547	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55606547G>C	uc010rio.1	+	c.320G>C	c.(319-321)TGC>TCC	p.C107S		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.365517	161.03857	163.34376	53	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55606547	55606547	11566	11	G	C	C	C	598	46	OR5D16	3	3
OR8J3	81168	broad.mit.edu	37	11	55905149	55905149	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55905149C>G	uc010riz.1	-	c.46G>C	c.(46-48)GGT>CGT	p.G16R		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.333333	66.201928	67.899408	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55905149	55905149	11653	11	C	G	G	G	312	24	OR8J3	3	3
OR5R1	219479	broad.mit.edu	37	11	56185706	56185706	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56185706C>A	uc010rji.1	-	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	1	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.303371	72.38169	75.45887	27	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56185706	56185706	11590	11	C	A	A	A	273	21	OR5R1	2	2
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655032	5655032	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5655032A>T	uc001mbf.2	+	c.1486_splice	c.e9-2	p.E496_splice	HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Splice_Site_SNP_p.E142_splice|TRIM34_uc009yeq.2_Splice_Site_SNP|TRIM34_uc001mbi.2_Splice_Site_SNP_p.E142_splice|TRIM34_uc001mbj.2_Splice_Site_SNP_p.E142_splice	NM_001003819	NP_001003819			tripartite motif-containing 6 and tripartite							intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)										0.34375	30.71575	31.40559	11	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	5655032	5655032	17080	11	A	T	T	T	195	15	TRIM6-TRIM34	5	3
PLAC1L	219990	broad.mit.edu	37	11	59807993	59807993	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59807993C>A	uc001nol.2	+	c.61C>A	c.(61-63)CAT>AAT	p.H21N		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	21						extracellular region				ovary(2)	2														0.274194	44.846323	47.695439	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59807993	59807993	12439	11	C	A	A	A	273	21	PLAC1L	2	2
OR52L1	338751	broad.mit.edu	37	11	6007733	6007733	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6007733G>T	uc001mcd.2	-	c.428C>A	c.(427-429)GCC>GAC	p.A143D		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	143	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.344828	50.678961	51.86798	20	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6007733	6007733	11535	11	G	T	T	T	546	42	OR52L1	2	2
MS4A14	84689	broad.mit.edu	37	11	60183516	60183516	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60183516G>T	uc001npj.2	+	c.1075G>T	c.(1075-1077)GGC>TGC	p.G359C	MS4A14_uc001npi.2_Missense_Mutation_p.G247C|MS4A14_uc001npn.2_Missense_Mutation_p.G97C|MS4A14_uc001npk.2_Missense_Mutation_p.G342C|MS4A14_uc001npl.2_Missense_Mutation_p.G97C|MS4A14_uc001npm.2_Missense_Mutation_p.G97C	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	359						integral to membrane	receptor activity			breast(1)	1														0.27027	24.631626	26.394855	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60183516	60183516	10251	11	G	T	T	T	455	35	MS4A14	2	2
TMEM132A	54972	broad.mit.edu	37	11	60695130	60695130	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60695130C>T	uc001nqi.2	+	c.333C>T	c.(331-333)GTC>GTT	p.V111V	TMEM132A_uc001nqj.2_Silent_p.V111V|TMEM132A_uc001nqk.2_Silent_p.V124V|TMEM132A_uc001nql.1_Silent_p.V124V	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform a	111	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0														0.296296	19.492301	20.49281	8	19	KEEP	---	---	---	---	capture		Silent	SNP	60695130	60695130	16576	11	C	T	T	T	366	29	TMEM132A	2	2
OR52B2	255725	broad.mit.edu	37	11	6191551	6191551	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6191551A>C	uc010qzy.1	-	c.6T>G	c.(4-6)AGT>AGG	p.S2R		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		NSCLC(5;186 261 1778 7098 14207)								0.340659	88.996592	91.088714	31	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6191551	6191551	11521	11	A	C	C	C	128	10	OR52B2	4	4
OR10A5	144124	broad.mit.edu	37	11	6866923	6866923	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6866923G>T	uc001met.1	+	c.10G>T	c.(10-12)GGA>TGA	p.G4*		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		Pancreas(44;21 1072 25662 28041 45559)								0.382716	87.232535	88.197951	31	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6866923	6866923	11299	11	G	T	T	T	455	35	OR10A5	5	2
C11orf30	56946	broad.mit.edu	37	11	76256959	76256959	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76256959C>T	uc010rsb.1	+	c.3437C>T	c.(3436-3438)CCA>CTA	p.P1146L	C11orf30_uc001oxl.2_Missense_Mutation_p.P1131L|C11orf30_uc001oxm.2_Missense_Mutation_p.P1033L|C11orf30_uc010rsc.1_Missense_Mutation_p.P1132L|C11orf30_uc001oxn.2_Missense_Mutation_p.P1132L|C11orf30_uc010rsd.1_Missense_Mutation_p.P1040L|C11orf30_uc010rse.1_Missense_Mutation_p.P378L|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1131					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6														0.294118	27.138177	28.427053	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76256959	76256959	1674	11	C	T	T	T	273	21	C11orf30	2	2
C11orf30	56946	broad.mit.edu	37	11	76257297	76257297	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76257297G>A	uc010rsb.1	+	c.3775G>A	c.(3775-3777)GGC>AGC	p.G1259S	C11orf30_uc001oxl.2_Missense_Mutation_p.G1244S|C11orf30_uc001oxm.2_Missense_Mutation_p.G1146S|C11orf30_uc010rsc.1_Missense_Mutation_p.G1245S|C11orf30_uc001oxn.2_Missense_Mutation_p.G1245S|C11orf30_uc010rsd.1_Missense_Mutation_p.G1153S|C11orf30_uc010rse.1_Missense_Mutation_p.G491S|C11orf30_uc001oxp.2_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1244					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6														0.152542	18.237904	25.052783	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76257297	76257297	1674	11	G	A	A	A	455	35	C11orf30	2	2
TMEM41B	440026	broad.mit.edu	37	11	9321227	9321227	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:9321227C>G	uc001mhm.2	-	c.143G>C	c.(142-144)GGA>GCA	p.G48A	TMEM41B_uc001mhn.1_Missense_Mutation_p.G48A	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	48						integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)										0.411765	20.350575	20.457068	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9321227	9321227	16704	11	C	G	G	G	390	30	TMEM41B	3	3
MRE11A	4361	broad.mit.edu	37	11	94189495	94189495	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94189495A>C	uc001peu.2	-	c.1510T>G	c.(1510-1512)TTC>GTC	p.F504V	MRE11A_uc001pev.2_Missense_Mutation_p.F504V|MRE11A_uc009ywj.2_Missense_Mutation_p.F507V	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	504					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.5	23.216455	23.216455	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94189495	94189495	10151	11	A	C	C	C	13	1	MRE11A	4	4
NT5DC3	51559	broad.mit.edu	37	12	104179254	104179254	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104179254C>A	uc010swe.1	-	c.1189_splice	c.e12-1	p.D397_splice		NM_001031701	NP_001026871			5'-nucleotidase domain containing 3								hydrolase activity|metal ion binding			ovary(2)|skin(1)	3														0.259259	33.519858	36.360235	14	40	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104179254	104179254	11097	12	C	A	A	A	312	24	NT5DC3	5	2
SLC41A2	84102	broad.mit.edu	37	12	105280131	105280131	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105280131C>A	uc001tla.2	-	c.967G>T	c.(967-969)GGC>TGC	p.G323C		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	323	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)	1						Esophageal Squamous(195;176 2919 4272 35572)								0.4375	44.747201	44.855827	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105280131	105280131	15127	12	C	A	A	A	273	21	SLC41A2	2	2
WSCD2	9671	broad.mit.edu	37	12	108618608	108618608	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108618608G>T	uc001tms.2	+	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	WSCD2_uc001tmt.2_Missense_Mutation_p.D259Y|WSCD2_uc001tmu.2_Missense_Mutation_p.D7Y	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	259	WSC 2.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.177778	14.480061	18.875896	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108618608	108618608	17981	12	G	T	T	T	533	41	WSCD2	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686401	108686401	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686401C>A	uc009zuw.2	-	c.339G>T	c.(337-339)AAG>AAT	p.K113N	CMKLR1_uc001tmw.2_Missense_Mutation_p.K113N|CMKLR1_uc001tmv.2_Missense_Mutation_p.K111N|CMKLR1_uc009zuv.2_Missense_Mutation_p.K113N	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	113	Extracellular (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.185185	18.548028	23.545207	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686401	108686401	3717	12	C	A	A	A	415	32	CMKLR1	2	2
TMEM119	338773	broad.mit.edu	37	12	108985620	108985620	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108985620G>A	uc001tng.2	-	c.540C>T	c.(538-540)ACC>ACT	p.T180T	TMEM119_uc001tnf.2_Non-coding_Transcript	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	180	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.190476	6.06892	7.97987	4	17	KEEP	---	---	---	---	capture		Silent	SNP	108985620	108985620	16563	12	G	A	A	A	548	43	TMEM119	2	2
UNG	7374	broad.mit.edu	37	12	109539744	109539744	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109539744G>T	uc001tnz.1	+	c.473G>T	c.(472-474)GGA>GTA	p.G158V	UNG_uc001toa.1_Missense_Mutation_p.G149V	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	158					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)	1														0.205882	13.938361	16.644319	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109539744	109539744	17558	12	G	T	T	T	533	41	UNG	2	2
UBE3B	89910	broad.mit.edu	37	12	109940927	109940927	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109940927G>T	uc001top.2	+	c.1382G>T	c.(1381-1383)TGC>TTC	p.C461F	UBE3B_uc001toq.2_Missense_Mutation_p.C461F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.C461F	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	461					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)	2										668				0.272727	38.976416	41.490847	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109940927	109940927	17438	12	G	T	T	T	598	46	UBE3B	2	2
ANAPC7	51434	broad.mit.edu	37	12	110815423	110815423	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110815423C>A	uc001tqo.2	-	c.1235_splice	c.e9-1	p.G412_splice	ANAPC7_uc001tqp.3_Splice_Site_SNP_p.G412_splice	NM_016238	NP_057322			anaphase-promoting complex subunit 7 isoform a						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	binding				0														0.205128	18.278529	21.423734	8	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110815423	110815423	609	12	C	A	A	A	312	24	ANAPC7	5	2
RBM19	9904	broad.mit.edu	37	12	114386694	114386694	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114386694C>A	uc009zwi.2	-	c.1220G>T	c.(1219-1221)CGG>CTG	p.R407L	RBM19_uc001tvn.3_Missense_Mutation_p.R407L|RBM19_uc001tvm.2_Missense_Mutation_p.R407L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	407	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.263158	54.077467	57.925311	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114386694	114386694	13582	12	C	A	A	A	299	23	RBM19	1	1
ZCCHC8	55596	broad.mit.edu	37	12	122958517	122958517	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122958517C>A	uc001ucn.2	-	c.1651G>T	c.(1651-1653)GGC>TGC	p.G551C	ZCCHC8_uc001ucl.2_Missense_Mutation_p.G162C|ZCCHC8_uc001ucm.2_Missense_Mutation_p.G313C|ZCCHC8_uc009zxp.2_Missense_Mutation_p.G313C|ZCCHC8_uc009zxq.2_Missense_Mutation_p.G313C	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	551					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)										0.260664	142.321997	153.27112	55	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122958517	122958517	18182	12	C	A	A	A	273	21	ZCCHC8	2	2
C12orf65	91574	broad.mit.edu	37	12	123738429	123738429	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123738429C>T	uc001uen.2	+	c.208C>T	c.(208-210)CCA>TCA	p.P70S	C12orf65_uc001ueo.2_Non-coding_Transcript|C12orf65_uc010tan.1_Missense_Mutation_p.P70S	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	70						mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)										0.346154	49.634754	50.721137	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123738429	123738429	1752	12	C	T	T	T	390	30	C12orf65	2	2
DNAH10	196385	broad.mit.edu	37	12	124417973	124417973	+	Missense_Mutation	SNP	C	A	A	rs56219209		TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124417973C>A	uc001uft.3	+	c.13038C>A	c.(13036-13038)AAC>AAA	p.N4346K	DNAH10_uc001ufu.3_Missense_Mutation_p.N259K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4346					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	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)										0.307692	12.02583	12.437533	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124417973	124417973	4780	12	C	A	A	A	246	19	DNAH10	1	1
TMEM132B	114795	broad.mit.edu	37	12	126068497	126068497	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126068497C>T	uc001uhe.1	+	c.1379C>T	c.(1378-1380)TCT>TTT	p.S460F		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	460	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.333333	180.095894	184.729147	63	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126068497	126068497	16577	12	C	T	T	T	416	32	TMEM132B	2	2
CACNA2D4	93589	broad.mit.edu	37	12	2022228	2022228	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2022228G>A	uc001qjp.2	-	c.387C>T	c.(385-387)GAC>GAT	p.D129D	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.D129D	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	129	Extracellular (Potential).				response to stimulus|visual perception	integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		Colon(2;101 179 21030 23310 28141)								0.28125	20.955648	22.336234	9	23	KEEP	---	---	---	---	capture		Silent	SNP	2022228	2022228	2667	12	G	A	A	A	620	48	CACNA2D4	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20874846	20874846	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20874846T>A	uc010sii.1	+	c.884T>A	c.(883-885)TTA>TAA	p.L295*	SLCO1C1_uc010sij.1_Nonsense_Mutation_p.L246*|SLCO1C1_uc001rej.3_Nonsense_Mutation_p.L295*|SLCO1C1_uc009zip.2_Nonsense_Mutation_p.L129*|SLCO1C1_uc001rei.2_Nonsense_Mutation_p.L295*|SLCO1C1_uc010sik.1_Nonsense_Mutation_p.L177*	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	295	Helical; Name=6; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.368421	20.320988	20.609733	7	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20874846	20874846	15222	12	T	A	A	A	793	61	SLCO1C1	5	3
IPO8	10526	broad.mit.edu	37	12	30792623	30792623	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30792623C>G	uc001rjd.2	-	c.2315G>C	c.(2314-2316)GGG>GCG	p.G772A	IPO8_uc001rje.1_Missense_Mutation_p.G261A|IPO8_uc010sjt.1_Missense_Mutation_p.G567A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	772					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.152778	19.386622	27.686291	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30792623	30792623	8099	12	C	G	G	G	286	22	IPO8	3	3
C12orf35	55196	broad.mit.edu	37	12	32134159	32134159	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32134159A>G	uc001rks.2	+	c.270A>G	c.(268-270)GTA>GTG	p.V90V		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	90										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)											0.3125	28.839462	29.840358	10	22	KEEP	---	---	---	---	capture		Silent	SNP	32134159	32134159	1726	12	A	G	G	G	184	15	C12orf35	4	4
CNTN1	1272	broad.mit.edu	37	12	41330595	41330595	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41330595G>T	uc001rmm.1	+	c.998G>T	c.(997-999)TGG>TTG	p.W333L	CNTN1_uc009zjy.1_Missense_Mutation_p.W333L|CNTN1_uc001rmn.1_Missense_Mutation_p.W322L|CNTN1_uc001rmo.2_Missense_Mutation_p.W333L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	333	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	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)								952				0.245902	37.905845	41.484889	15	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41330595	41330595	3778	12	G	T	T	T	611	47	CNTN1	2	2
PDZRN4	29951	broad.mit.edu	37	12	41946494	41946494	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41946494C>G	uc010skn.1	+	c.643C>G	c.(643-645)CTG>GTG	p.L215V	PDZRN4_uc001rmq.3_Missense_Mutation_p.L156V|PDZRN4_uc009zjz.2_Missense_Mutation_p.L154V|PDZRN4_uc001rmr.2_Missense_Mutation_p.L41V	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	414	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.301887	45.520478	47.355059	16	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41946494	41946494	12131	12	C	G	G	G	363	28	PDZRN4	3	3
TMEM117	84216	broad.mit.edu	37	12	44782158	44782158	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44782158A>G	uc001rod.2	+	c.1248A>G	c.(1246-1248)CGA>CGG	p.R416R	TMEM117_uc001roe.2_Silent_p.R312R|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	416						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)										0.270588	64.991809	69.023921	23	62	KEEP	---	---	---	---	capture		Silent	SNP	44782158	44782158	16562	12	A	G	G	G	145	12	TMEM117	4	4
KRT5	3852	broad.mit.edu	37	12	52913845	52913845	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52913845C>A	uc001san.2	-	c.236G>T	c.(235-237)AGT>ATT	p.S79I	KRT5_uc009zmh.2_Missense_Mutation_p.S79I	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	79	Head.|Gly-rich.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.25	28.903818	31.403749	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52913845	52913845	8794	12	C	A	A	A	260	20	KRT5	2	2
HOXC4	3221	broad.mit.edu	37	12	54448764	54448764	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54448764C>A	uc001seu.2	+	c.570C>A	c.(568-570)GCC>GCA	p.A190A	HOXC4_uc001sex.2_Silent_p.A190A	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	190	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.128205	4.657898	9.912805	5	34	KEEP	---	---	---	---	capture		Silent	SNP	54448764	54448764	7605	12	C	A	A	A	275	22	HOXC4	2	2
LACRT	90070	broad.mit.edu	37	12	55026991	55026991	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55026991C>G	uc001sgi.1	-	c.85G>C	c.(85-87)GCT>CCT	p.A29P		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	lacritin precursor	29					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			central_nervous_system(1)	1														0.231788	88.69719	98.613917	35	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55026991	55026991	8919	12	C	G	G	G	325	25	LACRT	3	3
NEUROD4	58158	broad.mit.edu	37	12	55420716	55420716	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55420716C>G	uc001sgp.3	+	c.493C>G	c.(493-495)CCC>GCC	p.P165A		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(3)	3														0.041322	-17.180409	10.055647	5	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55420716	55420716	10750	12	C	G	G	G	338	26	NEUROD4	3	3
OR6C74	254783	broad.mit.edu	37	12	55641839	55641839	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55641839G>C	uc010spg.1	+	c.768G>C	c.(766-768)ATG>ATC	p.M256I		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	256	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.338983	66.090742	67.438935	20	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55641839	55641839	11608	12	G	C	C	C	624	48	OR6C74	3	3
OR6C65	403282	broad.mit.edu	37	12	55794780	55794780	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55794780C>A	uc010spl.1	+	c.468C>A	c.(466-468)CCC>CCA	p.P156P		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.241935	35.591315	39.359898	15	47	KEEP	---	---	---	---	capture		Silent	SNP	55794780	55794780	11605	12	C	A	A	A	275	22	OR6C65	2	2
MMP19	4327	broad.mit.edu	37	12	56234974	56234974	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56234974C>T	uc001sib.2	-	c.220G>A	c.(220-222)GAT>AAT	p.D74N	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Non-coding_Transcript|MMP19_uc010spw.1_Missense_Mutation_p.D74N	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	74					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.384615	42.014768	42.470241	15	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56234974	56234974	10047	12	C	T	T	T	377	29	MMP19	2	2
PAN2	9924	broad.mit.edu	37	12	56712181	56712181	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56712181C>G	uc001skx.2	-	c.3414G>C	c.(3412-3414)GAG>GAC	p.E1138D	CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Missense_Mutation_p.E286D|PAN2_uc001skz.2_Missense_Mutation_p.E1137D|PAN2_uc001sky.2_Missense_Mutation_p.E1134D	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1138	Exonuclease.				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)|large_intestine(1)|skin(1)	4														0.333333	19.511804	20.2038	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56712181	56712181	11831	12	C	G	G	G	311	24	PAN2	3	3
DPY19L2	283417	broad.mit.edu	37	12	63974458	63974458	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63974458T>G	uc001srp.1	-	c.1884A>C	c.(1882-1884)AAA>AAC	p.K628N	DPY19L2_uc010sso.1_Missense_Mutation_p.K75N	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	628					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)	1			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)										0.097826	6.605439	21.516698	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63974458	63974458	4925	12	T	G	G	G	673	52	DPY19L2	4	4
ING4	51147	broad.mit.edu	37	12	6761907	6761907	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6761907C>A	uc001qpw.3	-	c.421G>T	c.(421-423)GCT>TCT	p.A141S	ING4_uc001qpv.3_Missense_Mutation_p.A140S|ING4_uc001qpy.3_Missense_Mutation_p.A137S|ING4_uc001qpx.3_Missense_Mutation_p.A138S|ING4_uc009zes.2_Missense_Mutation_p.A141S|ING4_uc009zet.2_Missense_Mutation_p.A117S|ING4_uc009zeu.2_Non-coding_Transcript|ING4_uc009zev.2_Non-coding_Transcript	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4 isoform 9	141					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|ovary(1)	4														0.333333	79.14237	81.284462	29	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6761907	6761907	8039	12	C	A	A	A	325	25	ING4	2	2
PTPRB	5787	broad.mit.edu	37	12	71029634	71029634	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71029634C>A	uc001swc.3	-	c.268G>T	c.(268-270)GCA>TCA	p.A90S	PTPRB_uc001swa.3_Missense_Mutation_p.A90S|PTPRB_uc001swd.3_Missense_Mutation_p.A89S|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Missense_Mutation_p.A90S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	Error:Variant_position_missing_in_P23467_after_alignment					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.277778	11.672721	12.469353	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71029634	71029634	13253	12	C	A	A	A	338	26	PTPRB	2	2
ACSM4	341392	broad.mit.edu	37	12	7475905	7475905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7475905G>T	uc001qsx.1	+	c.1201G>T	c.(1201-1203)GTC>TTC	p.V401F		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	401					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0														0.275862	22.186993	23.498933	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7475905	7475905	187	12	G	T	T	T	624	48	ACSM4	2	2
CD163L1	283316	broad.mit.edu	37	12	7531614	7531614	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7531614A>T	uc010sge.1	-	c.2361T>A	c.(2359-2361)ACT>ACA	p.T787T	CD163L1_uc001qsy.2_Silent_p.T777T	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	777	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.333333	24.092032	24.682431	8	16	KEEP	---	---	---	---	capture		Silent	SNP	7531614	7531614	3095	12	A	T	T	T	80	7	CD163L1	3	3
OSBPL8	114882	broad.mit.edu	37	12	76763016	76763016	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76763016T>C	uc001sye.1	-	c.2306A>G	c.(2305-2307)AAA>AGA	p.K769R	OSBPL8_uc001syf.1_Missense_Mutation_p.K727R|OSBPL8_uc001syg.1_Missense_Mutation_p.K727R	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	769					lipid transport		lipid binding			ovary(1)	1														0.195652	19.044298	23.023522	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76763016	76763016	11694	12	T	C	C	C	832	64	OSBPL8	4	4
OSBPL8	114882	broad.mit.edu	37	12	76769070	76769070	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76769070G>C	uc001sye.1	-	c.1810C>G	c.(1810-1812)CTT>GTT	p.L604V	OSBPL8_uc001syf.1_Missense_Mutation_p.L562V|OSBPL8_uc001syg.1_Missense_Mutation_p.L562V|OSBPL8_uc001syh.1_Missense_Mutation_p.L579V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	604					lipid transport		lipid binding			ovary(1)	1														0.290323	25.962697	27.183787	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76769070	76769070	11694	12	G	C	C	C	468	36	OSBPL8	3	3
NAV3	89795	broad.mit.edu	37	12	78415527	78415527	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78415527G>T	uc001syp.2	+	c.1908G>T	c.(1906-1908)AGG>AGT	p.R636S	NAV3_uc001syo.2_Missense_Mutation_p.R636S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	636						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16									p.R636S(NCIH661-Tumor)	1091				0.2	51.41859	61.873044	25	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78415527	78415527	10581	12	G	T	T	T	555	43	NAV3	2	2
NAV3	89795	broad.mit.edu	37	12	78522559	78522559	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78522559C>T	uc001syp.2	+	c.4354C>T	c.(4354-4356)CTT>TTT	p.L1452F	NAV3_uc001syo.2_Missense_Mutation_p.L1452F|NAV3_uc010sub.1_Missense_Mutation_p.L938F|NAV3_uc009zsf.2_Missense_Mutation_p.L283F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1452	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.333333	47.288632	48.528149	17	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78522559	78522559	10581	12	C	T	T	T	364	28	NAV3	2	2
ACSS3	79611	broad.mit.edu	37	12	81537007	81537007	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81537007G>T	uc001szl.1	+	c.902G>T	c.(901-903)GGC>GTC	p.G301V	ACSS3_uc001szm.1_Missense_Mutation_p.G300V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	301						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.194444	13.714478	16.843052	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81537007	81537007	191	12	G	T	T	T	546	42	ACSS3	2	2
SLC6A15	55117	broad.mit.edu	37	12	85264382	85264382	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85264382G>T	uc001szv.2	-	c.1370C>A	c.(1369-1371)CCC>CAC	p.P457H	SLC6A15_uc010sul.1_Missense_Mutation_p.P350H|SLC6A15_uc001szw.1_Missense_Mutation_p.P165H	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	457	Helical; Name=8; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.247423	56.548774	62.184552	24	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85264382	85264382	15175	12	G	T	T	T	559	43	SLC6A15	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85466712	85466712	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85466712T>A	uc001tac.2	+	c.2723T>A	c.(2722-2724)CTT>CAT	p.L908H	LRRIQ1_uc001tab.1_Missense_Mutation_p.L908H	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	908										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.125	3.907714	7.205594	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85466712	85466712	9405	12	T	A	A	A	728	56	LRRIQ1	3	3
LRRIQ1	84125	broad.mit.edu	37	12	85546867	85546867	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85546867G>T	uc001tac.2	+	c.4485G>T	c.(4483-4485)TGG>TGT	p.W1495C		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1495										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.323529	31.413411	32.353201	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85546867	85546867	9405	12	G	T	T	T	572	44	LRRIQ1	2	2
C12orf50	160419	broad.mit.edu	37	12	88376957	88376957	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88376957G>T	uc001tam.1	-	c.1142C>A	c.(1141-1143)ACA>AAA	p.T381K		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	381										ovary(1)	1														0.137255	11.698632	18.184879	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88376957	88376957	1739	12	G	T	T	T	624	48	C12orf50	2	2
LUM	4060	broad.mit.edu	37	12	91502284	91502284	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91502284A>T	uc001tbm.2	-	c.473T>A	c.(472-474)TTG>TAG	p.L158*	LUM_uc001tbn.2_Intron	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	158	LRR 4.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2														0.287356	69.440935	72.968335	25	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	91502284	91502284	9461	12	A	T	T	T	65	5	LUM	5	3
PZP	5858	broad.mit.edu	37	12	9307398	9307398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9307398C>A	uc001qvl.2	-	c.3588G>T	c.(3586-3588)AAG>AAT	p.K1196N	PZP_uc009zgl.2_Missense_Mutation_p.K982N	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.230769	14.437133	16.163821	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9307398	9307398	13327	12	C	A	A	A	311	24	PZP	2	2
NEDD1	121441	broad.mit.edu	37	12	97334303	97334303	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97334303C>A	uc001tew.2	+	c.1255C>A	c.(1255-1257)CCT>ACT	p.P419T	NEDD1_uc001teu.3_Missense_Mutation_p.P412T|NEDD1_uc001tev.3_Missense_Mutation_p.P412T|NEDD1_uc010svc.1_Missense_Mutation_p.P323T|NEDD1_uc001tex.2_Missense_Mutation_p.P323T	NM_001135175	NP_001128647	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	412					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0														0.3125	40.310795	41.811348	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97334303	97334303	10708	12	C	A	A	A	234	18	NEDD1	2	2
ERCC5	2073	broad.mit.edu	37	13	103506168	103506168	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103506168T>G	uc001vpu.1	+	c.1688T>G	c.(1687-1689)CTT>CGT	p.L563R	ERCC5_uc010tjb.1_Missense_Mutation_p.L109R|ERCC5_uc001vpw.2_Missense_Mutation_p.L109R|ERCC5_uc010tjc.1_Non-coding_Transcript|ERCC5_uc010tjd.1_Intron	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	109					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.119266	12.204058	27.714997	13	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103506168	103506168	5409	13	T	G	G	G	728	56	ERCC5	4	4
COL4A2	1284	broad.mit.edu	37	13	111130465	111130465	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111130465T>A	uc001vqx.2	+	c.2541T>A	c.(2539-2541)CCT>CCA	p.P847P		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	847	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	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)											0.8	12.805756	13.219538	4	1	KEEP	---	---	---	---	capture		Silent	SNP	111130465	111130465	3828	13	T	A	A	A	704	55	COL4A2	3	3
PABPC3	5042	broad.mit.edu	37	13	25670841	25670841	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25670841T>A	uc001upy.2	+	c.505T>A	c.(505-507)TTT>ATT	p.F169I		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	169	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(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)										0.5	39.070062	39.070062	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25670841	25670841	11780	13	T	A	A	A	676	52	PABPC3	3	3
POSTN	10631	broad.mit.edu	37	13	38160333	38160333	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38160333C>G	uc001uwo.3	-	c.838G>C	c.(838-840)GAG>CAG	p.E280Q	POSTN_uc001uwp.3_Missense_Mutation_p.E280Q|POSTN_uc001uwr.2_Missense_Mutation_p.E280Q|POSTN_uc001uwq.2_Missense_Mutation_p.E280Q|POSTN_uc010teu.1_Missense_Mutation_p.E280Q|POSTN_uc010tev.1_Missense_Mutation_p.E280Q|POSTN_uc010tew.1_Missense_Mutation_p.E280Q|POSTN_uc010tex.1_Missense_Mutation_p.E195Q	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	280	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.435897	56.069883	56.209497	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38160333	38160333	12688	13	C	G	G	G	377	29	POSTN	3	3
FREM2	341640	broad.mit.edu	37	13	39266239	39266239	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39266239C>A	uc001uwv.2	+	c.4758C>A	c.(4756-4758)ACC>ACA	p.T1586T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1586	Extracellular (Potential).|CSPG 11.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	10		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)										0.346154	23.765263	24.309409	9	17	KEEP	---	---	---	---	capture		Silent	SNP	39266239	39266239	6292	13	C	A	A	A	262	21	FREM2	2	2
PCDH17	27253	broad.mit.edu	37	13	58209103	58209103	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58209103C>A	uc001vhq.1	+	c.2423C>A	c.(2422-2424)TCG>TAG	p.S808*	PCDH17_uc010aec.1_Nonsense_Mutation_p.S808*	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	808	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.4	6.452284	6.494931	2	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58209103	58209103	11932	13	C	A	A	A	403	31	PCDH17	5	1
PCDH9	5101	broad.mit.edu	37	13	67800785	67800785	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67800785C>A	uc001vik.2	-	c.1788G>T	c.(1786-1788)GTG>GTT	p.V596V	PCDH9_uc001vil.2_Silent_p.V596V|PCDH9_uc010thl.1_Silent_p.V596V|PCDH9_uc001vin.3_Silent_p.V596V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	596	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.575	141.2523	141.643914	46	34	KEEP	---	---	---	---	capture		Silent	SNP	67800785	67800785	11938	13	C	A	A	A	366	29	PCDH9	2	2
DIS3	22894	broad.mit.edu	37	13	73346347	73346347	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73346347C>T	uc001vix.3	-	c.1453G>A	c.(1453-1455)GAT>AAT	p.D485N	DIS3_uc001viy.3_Missense_Mutation_p.D455N|DIS3_uc001viz.2_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	485					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding				0		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)							Multiple Myeloma(4;0.011)			0.097561	2.467002	9.118402	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73346347	73346347	4714	13	C	T	T	T	377	29	DIS3	2	2
SLC15A1	6564	broad.mit.edu	37	13	99364189	99364189	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99364189G>T	uc001vno.2	-	c.819C>A	c.(817-819)CTC>CTA	p.L273L		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	273	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)									0.419355	35.250302	35.430033	13	18	KEEP	---	---	---	---	capture		Silent	SNP	99364189	99364189	14893	13	G	T	T	T	574	45	SLC15A1	2	2
OR4N2	390429	broad.mit.edu	37	14	20295777	20295777	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20295777C>A	uc010tkv.1	+	c.170C>A	c.(169-171)GCC>GAC	p.A57D		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	57	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.448718	215.206631	215.549723	70	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20295777	20295777	11487	14	C	A	A	A	338	26	OR4N2	2	2
TEP1	7011	broad.mit.edu	37	14	20837665	20837665	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20837665T>C	uc001vxe.2	-	c.7494A>G	c.(7492-7494)GAA>GAG	p.E2498E	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.2_Silent_p.E1841E|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E2390E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2498	WD 19.				telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.40678	76.478514	76.92894	24	35	KEEP	---	---	---	---	capture		Silent	SNP	20837665	20837665	16286	14	T	C	C	C	673	52	TEP1	4	4
REC8	9985	broad.mit.edu	37	14	24642162	24642162	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24642162G>T	uc001wmr.2	+	c.180G>T	c.(178-180)CTG>CTT	p.L60L	REC8_uc001wms.2_Silent_p.L60L	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	60					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		NSCLC(139;1764 2537 12868 49041)								0.346154	26.07281	26.613478	9	17	KEEP	---	---	---	---	capture		Silent	SNP	24642162	24642162	13668	14	G	T	T	T	587	46	REC8	2	2
NYNRIN	57523	broad.mit.edu	37	14	24877601	24877601	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24877601G>T	uc001wpf.3	+	c.725G>T	c.(724-726)GGA>GTA	p.G242V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	242					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.215686	23.818873	27.608513	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24877601	24877601	11201	14	G	T	T	T	533	41	NYNRIN	2	2
PRKD1	5587	broad.mit.edu	37	14	30066904	30066904	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30066904C>A	uc001wqh.2	-	c.2227G>T	c.(2227-2229)GTG>TTG	p.V743L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	743	Protein kinase.				cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.V743L(1)		lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.413793	34.093237	34.281751	12	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30066904	30066904	12961	14	C	A	A	A	260	20	PRKD1	2	2
NFKBIA	4792	broad.mit.edu	37	14	35871818	35871818	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35871818G>C	uc001wtf.3	-	c.688C>G	c.(688-690)CCT>GCT	p.P230A	NFKBIA_uc001wte.3_Missense_Mutation_p.P140A|NFKBIA_uc001wtg.3_Intron|NFKBIA_uc010amo.2_Non-coding_Transcript	NM_020529	NP_065390	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene	230	ANK 5.				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(2)	2	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)						105				0.2	19.202582	22.531821	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35871818	35871818	10777	14	G	C	C	C	533	41	NFKBIA	3	3
FSCB	84075	broad.mit.edu	37	14	44975740	44975740	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975740C>G	uc001wvn.2	-	c.451G>C	c.(451-453)GTG>CTG	p.V151L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	151						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.178571	35.206898	43.272318	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975740	44975740	6316	14	C	G	G	G	260	20	FSCB	3	3
TRIM9	114088	broad.mit.edu	37	14	51489585	51489585	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51489585G>T	uc001wyy.2	-	c.1009C>A	c.(1009-1011)CGC>AGC	p.R337S	TRIM9_uc001wyx.3_Missense_Mutation_p.R337S|TRIM9_uc001wyz.3_Missense_Mutation_p.R337S	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	337	Potential.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.313433	56.906928	58.952479	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51489585	51489585	17099	14	G	T	T	T	507	39	TRIM9	1	1
FERMT2	10979	broad.mit.edu	37	14	53326377	53326377	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:53326377G>A	uc001xac.2	-	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	FERMT2_uc001xad.2_Missense_Mutation_p.R595W|FERMT2_uc001xae.2_Missense_Mutation_p.R595W|FERMT2_uc001xaf.2_Missense_Mutation_p.R602W	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 2	595	FERM.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)													0.088889	1.766604	9.448915	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53326377	53326377	6055	14	G	A	A	A	480	37	FERMT2	1	1
KIAA0586	9786	broad.mit.edu	37	14	58917366	58917366	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58917366G>A	uc001xdu.3	+	c.986G>A	c.(985-987)CGC>CAC	p.R329H	KIAA0586_uc010trr.1_Missense_Mutation_p.R385H|KIAA0586_uc001xdt.3_Missense_Mutation_p.R300H|KIAA0586_uc010trs.1_Missense_Mutation_p.R259H|KIAA0586_uc001xdv.3_Missense_Mutation_p.R344H|KIAA0586_uc010trt.1_Missense_Mutation_p.R204H|KIAA0586_uc010tru.1_Missense_Mutation_p.R204H	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	344										ovary(1)	1														0.242424	17.780583	19.780651	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58917366	58917366	8493	14	G	A	A	A	494	38	KIAA0586	1	1
RHOJ	57381	broad.mit.edu	37	14	63749849	63749849	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63749849G>T	uc001xgb.1	+	c.413G>T	c.(412-414)CGT>CTT	p.R138L		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	138					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)										0.384615	97.039537	97.947035	30	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63749849	63749849	13816	14	G	T	T	T	520	40	RHOJ	1	1
C14orf50	145376	broad.mit.edu	37	14	65054036	65054036	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65054036G>T	uc001xhl.1	+	c.836G>T	c.(835-837)CGT>CTT	p.R279L	C14orf50_uc001xhm.1_Missense_Mutation_p.R9L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	279											0				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)										0.125	12.06977	20.850988	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65054036	65054036	1827	14	G	T	T	T	520	40	C14orf50	1	1
EXD2	55218	broad.mit.edu	37	14	69702849	69702849	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69702849A>G	uc001xkv.2	+	c.1136A>G	c.(1135-1137)TAC>TGC	p.Y379C	EXD2_uc001xkt.2_Missense_Mutation_p.Y254C|EXD2_uc001xku.2_Missense_Mutation_p.Y124C|EXD2_uc001xkw.2_Missense_Mutation_p.Y254C|EXD2_uc010aqt.2_Missense_Mutation_p.Y379C|EXD2_uc010tte.1_Missense_Mutation_p.Y379C|EXD2_uc001xky.2_Missense_Mutation_p.Y254C	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	254					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.219512	43.407586	49.350979	18	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69702849	69702849	5491	14	A	G	G	G	182	14	EXD2	4	4
GALNTL1	57452	broad.mit.edu	37	14	69805381	69805381	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69805381G>T	uc010aqu.1	+	c.981G>T	c.(979-981)AGG>AGT	p.R327S	GALNTL1_uc001xla.1_Missense_Mutation_p.R327S|GALNTL1_uc001xlb.1_Missense_Mutation_p.R327S	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	327	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)										0.282051	54.309542	57.645169	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69805381	69805381	6485	14	G	T	T	T	555	43	GALNTL1	2	2
ADAM20	8748	broad.mit.edu	37	14	70990727	70990727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70990727C>A	uc001xme.2	-	c.898G>T	c.(898-900)GTT>TTT	p.V300F		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	250	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)										0.230769	63.782635	71.542794	27	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70990727	70990727	243	14	C	A	A	A	234	18	ADAM20	2	2
ADAM20	8748	broad.mit.edu	37	14	70991419	70991419	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70991419A>T	uc001xme.2	-	c.206T>A	c.(205-207)TTT>TAT	p.F69Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	19					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)										0.289256	86.67341	91.492729	35	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70991419	70991419	243	14	A	T	T	T	13	1	ADAM20	3	3
SIPA1L1	26037	broad.mit.edu	37	14	72176309	72176309	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72176309G>T	uc001xms.2	+	c.4199G>T	c.(4198-4200)AGC>ATC	p.S1400I	SIPA1L1_uc001xmt.2_Missense_Mutation_p.S1379I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.S1379I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.S1400I|SIPA1L1_uc010ttm.1_Missense_Mutation_p.S854I|SIPA1L1_uc001xmw.2_Missense_Mutation_p.S165I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1400	Ser-rich.				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)										0.333333	13.025204	13.477585	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72176309	72176309	14824	14	G	T	T	T	442	34	SIPA1L1	2	2
TSHR	7253	broad.mit.edu	37	14	81610368	81610368	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81610368G>A	uc001xvd.1	+	c.1966G>A	c.(1966-1968)GTT>ATT	p.V656I		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	656	Extracellular (Potential).		V -> F (in TTNs).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.V656F(3)|p.V656I(1)		thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.285714	74.402592	78.732121	30	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81610368	81610368	17173	14	G	A	A	A	624	48	TSHR	2	2
GLRX5	51218	broad.mit.edu	37	14	96010439	96010439	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96010439A>T	uc001yem.1	+	c.451A>T	c.(451-453)AAG>TAG	p.K151*		NM_016417	NP_057501	Q86SX6	GLRX5_HUMAN	glutaredoxin 5	151					cell redox homeostasis|hemopoiesis	mitochondrion	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)										0.392857	28.114379	28.396779	11	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96010439	96010439	6730	14	A	T	T	T	13	1	GLRX5	5	3
TARSL2	123283	broad.mit.edu	37	15	102242441	102242441	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:102242441C>A	uc002bxm.2	-	c.1221_splice	c.e9+1	p.K407_splice	TARSL2_uc002bxl.2_Intron|TARSL2_uc010usi.1_Splice_Site_SNP	NM_152334	NP_689547			threonyl-tRNA synthetase-like 2						threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.139241	15.771824	25.713963	11	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	102242441	102242441	16083	15	C	A	A	A	234	18	TARSL2	5	2
TARSL2	123283	broad.mit.edu	37	15	102252198	102252198	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:102252198A>G	uc002bxm.2	-	c.697T>C	c.(697-699)TGG>CGG	p.W233R	TARSL2_uc010usi.1_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	233					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			ovary(2)	2	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.28	15.608314	16.701194	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102252198	102252198	16083	15	A	G	G	G	91	7	TARSL2	4	4
CYFIP1	23191	broad.mit.edu	37	15	22962480	22962480	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22962480C>A	uc001yus.2	+	c.2200C>A	c.(2200-2202)CAG>AAG	p.Q734K	CYFIP1_uc001yut.2_Missense_Mutation_p.Q734K|CYFIP1_uc010aya.1_Missense_Mutation_p.Q762K|CYFIP1_uc001yuu.2_Missense_Mutation_p.Q303K	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	734					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)	8		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)						1870				0.3	7.936517	8.285164	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22962480	22962480	4302	15	C	A	A	A	377	29	CYFIP1	2	2
C15orf2	23742	broad.mit.edu	37	15	24923002	24923002	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24923002G>T	uc001ywo.2	+	c.1988G>T	c.(1987-1989)AGT>ATT	p.S663I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	663					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.25	37.667575	41.305572	16	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24923002	24923002	1834	15	G	T	T	T	468	36	C15orf2	2	2
C15orf2	23742	broad.mit.edu	37	15	24923440	24923440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24923440G>T	uc001ywo.2	+	c.2426G>T	c.(2425-2427)AGT>ATT	p.S809I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	809					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.24	27.87049	30.959751	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24923440	24923440	1834	15	G	T	T	T	468	36	C15orf2	2	2
OTUD7A	161725	broad.mit.edu	37	15	31862380	31862380	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31862380C>A	uc001zfr.2	-	c.172G>T	c.(172-174)GCC>TCC	p.A58S	OTUD7A_uc001zfq.2_Missense_Mutation_p.A58S|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Missense_Mutation_p.A58S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	58						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)	1		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)										0.225806	16.316549	18.451611	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31862380	31862380	11731	15	C	A	A	A	364	28	OTUD7A	2	2
RYR3	6263	broad.mit.edu	37	15	33855184	33855184	+	Silent	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33855184T>G	uc001zhi.2	+	c.1119T>G	c.(1117-1119)ACT>ACG	p.T373T	RYR3_uc010bar.2_Silent_p.T373T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	373	Cytoplasmic (By similarity).|MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.153005	45.874038	66.982262	28	155	KEEP	---	---	---	---	capture		Silent	SNP	33855184	33855184	14250	15	T	G	G	G	717	56	RYR3	4	4
SLC12A6	9990	broad.mit.edu	37	15	34536219	34536219	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34536219T>A	uc001zhw.2	-	c.1998A>T	c.(1996-1998)TTA>TTT	p.L666F	SLC12A6_uc001zhv.2_Missense_Mutation_p.L615F|SLC12A6_uc001zhx.2_Missense_Mutation_p.L651F|SLC12A6_uc001zhy.2_Non-coding_Transcript|SLC12A6_uc001zhz.2_Non-coding_Transcript|SLC12A6_uc001zia.2_Missense_Mutation_p.L607F|SLC12A6_uc001zib.2_Missense_Mutation_p.L657F|SLC12A6_uc001zic.2_Missense_Mutation_p.L666F|SLC12A6_uc010bau.2_Missense_Mutation_p.L666F|SLC12A6_uc001zid.2_Missense_Mutation_p.L607F|SLC12A6_uc001zht.2_Non-coding_Transcript|SLC12A6_uc001zhu.2_Missense_Mutation_p.L478F	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	666	Cytoplasmic (Potential).				angiogenesis|potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)	6		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)									0.155556	35.668384	51.012679	21	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34536219	34536219	14882	15	T	A	A	A	738	57	SLC12A6	3	3
AQR	9716	broad.mit.edu	37	15	35198859	35198859	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35198859T>A	uc001ziv.2	-	c.1718A>T	c.(1717-1719)TAT>TTT	p.Y573F		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	573					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.170213	33.64666	43.31344	16	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35198859	35198859	846	15	T	A	A	A	637	49	AQR	3	3
TYRO3	7301	broad.mit.edu	37	15	41864736	41864736	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41864736G>T	uc001zof.1	+	c.1849G>T	c.(1849-1851)GCC>TCC	p.A617S		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	617	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)						1052				0.139535	8.934614	14.32107	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41864736	41864736	17371	15	G	T	T	T	494	38	TYRO3	1	1
SPTBN5	51332	broad.mit.edu	37	15	42169374	42169374	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42169374C>A	uc001zos.2	-	c.3546G>T	c.(3544-3546)GTG>GTT	p.V1182V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1217	Spectrin 9.				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)										0.333333	13.529555	13.869904	5	10	KEEP	---	---	---	---	capture		Silent	SNP	42169374	42169374	15636	15	C	A	A	A	262	21	SPTBN5	2	2
CDAN1	146059	broad.mit.edu	37	15	43019893	43019893	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43019893C>A	uc001zql.2	-	c.3022G>T	c.(3022-3024)GGG>TGG	p.G1008W	CDAN1_uc001zqj.2_Non-coding_Transcript|CDAN1_uc001zqk.2_Missense_Mutation_p.G334W	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1008						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)										0.545455	16.146877	16.166301	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43019893	43019893	3182	15	C	A	A	A	286	22	CDAN1	2	2
TGM5	9333	broad.mit.edu	37	15	43525419	43525419	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43525419G>T	uc001zrd.1	-	c.2133C>A	c.(2131-2133)TAC>TAA	p.Y711*	TGM5_uc001zrc.1_Nonsense_Mutation_p.Y368*|TGM5_uc001zre.1_Nonsense_Mutation_p.Y629*	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	711					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)									0.371429	37.963115	38.472475	13	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43525419	43525419	16361	15	G	T	T	T	620	48	TGM5	5	2
B2M	567	broad.mit.edu	37	15	45007672	45007672	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45007672C>G	uc010uek.1	+	c.119C>G	c.(118-120)TCA>TGA	p.S40*	B2M_uc010bdx.1_Nonsense_Mutation_p.S40*|B2M_uc001zuc.2_Nonsense_Mutation_p.S40*	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	40	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)	2		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)										0.072917	-0.343753	17.657059	7	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45007672	45007672	1265	15	C	G	G	G	377	29	B2M	5	3
SLC12A1	6557	broad.mit.edu	37	15	48513161	48513161	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48513161G>T	uc001zwn.3	+	c.596G>T	c.(595-597)CGC>CTC	p.R199L	SLC12A1_uc010uew.1_Missense_Mutation_p.R5L|SLC12A1_uc010bem.2_Missense_Mutation_p.R199L|SLC12A1_uc010uex.1_Missense_Mutation_p.R199L|SLC12A1_uc001zwq.3_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	199					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.354839	96.499117	98.203728	33	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48513161	48513161	14877	15	G	T	T	T	494	38	SLC12A1	1	1
DYX1C1	161582	broad.mit.edu	37	15	55710312	55710312	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:55710312C>A	uc002adb.2	-	c.1067G>T	c.(1066-1068)GGC>GTC	p.G356V	CCPG1_uc002acy.2_Intron|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_Intron	NM_001033560	NP_001028732	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform c	Error:Variant_position_missing_in_Q8WXU2_after_alignment					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding				0				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)										0.333333	10.395321	10.690868	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55710312	55710312	5048	15	C	A	A	A	338	26	DYX1C1	2	2
IGDCC4	57722	broad.mit.edu	37	15	65676610	65676610	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65676610G>T	uc002aou.1	-	c.3490C>A	c.(3490-3492)CCT>ACT	p.P1164T	IGDCC4_uc002aot.1_Missense_Mutation_p.P752T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1164	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.4	15.944998	16.07669	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65676610	65676610	7870	15	G	T	T	T	533	41	IGDCC4	2	2
NEO1	4756	broad.mit.edu	37	15	73562350	73562350	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73562350G>T	uc002avm.3	+	c.2495_splice	c.e17-1	p.D832_splice	NEO1_uc010ukx.1_Splice_Site_SNP_p.D832_splice|NEO1_uc010uky.1_Splice_Site_SNP_p.D832_splice|NEO1_uc010ukz.1_Splice_Site_SNP_p.D256_splice|NEO1_uc002avn.3_Intron	NM_002499	NP_002490			neogenin homolog 1 precursor						axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.212291	85.24849	98.948349	38	141	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	73562350	73562350	10735	15	G	T	T	T	429	33	NEO1	5	2
CCDC33	80125	broad.mit.edu	37	15	74574130	74574130	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74574130G>C	uc002axo.2	+	c.1035G>C	c.(1033-1035)CTG>CTC	p.L345L	CCDC33_uc002axp.2_Silent_p.L167L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	548							protein binding			ovary(3)	3														0.166667	21.219222	27.53449	10	50	KEEP	---	---	---	---	capture		Silent	SNP	74574130	74574130	2928	15	G	C	C	C	574	45	CCDC33	3	3
CCDC33	80125	broad.mit.edu	37	15	74623621	74623621	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74623621G>T	uc002axo.2	+	c.1755G>T	c.(1753-1755)CAG>CAT	p.Q585H	CCDC33_uc002axp.2_Missense_Mutation_p.Q407H|CCDC33_uc002axq.2_Missense_Mutation_p.Q178H|CCDC33_uc002axr.2_Missense_Mutation_p.Q178H	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	788							protein binding			ovary(3)	3														0.428571	16.035911	16.100219	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74623621	74623621	2928	15	G	T	T	T	451	35	CCDC33	2	2
SCAPER	49855	broad.mit.edu	37	15	76641023	76641023	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:76641023T>A	uc002bby.2	-	c.4154A>T	c.(4153-4155)CAG>CTG	p.Q1385L	SCAPER_uc010bkr.2_Missense_Mutation_p.Q643L|SCAPER_uc002bbx.2_Missense_Mutation_p.Q1139L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1384						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3														0.25	8.019057	8.700868	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76641023	76641023	14359	15	T	A	A	A	715	55	SCAPER	3	3
CIB2	10518	broad.mit.edu	37	15	78416082	78416082	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:78416082C>A	uc010ums.1	-	c.52_splice	c.e2-1	p.D18_splice	CIB2_uc002bdb.1_Splice_Site_SNP_p.D18_splice|CIB2_uc002bdc.1_Intron	NM_006383	NP_006374			DNA-dependent protein kinase catalytic								calcium ion binding				0														0.2	18.923986	22.237328	8	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	78416082	78416082	3555	15	C	A	A	A	312	24	CIB2	5	2
SLC28A1	9154	broad.mit.edu	37	15	85488009	85488009	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85488009G>T	uc002blg.2	+	c.1785G>T	c.(1783-1785)GGG>GGT	p.G595G	SLC28A1_uc010bnb.2_Silent_p.G595G|SLC28A1_uc010upe.1_Silent_p.G429G|SLC28A1_uc010upf.1_Silent_p.G595G|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	595					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.0587)											0.195652	47.547069	59.488664	27	111	KEEP	---	---	---	---	capture		Silent	SNP	85488009	85488009	15028	15	G	T	T	T	548	43	SLC28A1	2	2
AGBL1	123624	broad.mit.edu	37	15	86697741	86697741	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86697741G>T	uc002blz.1	+	c.205G>T	c.(205-207)GGC>TGC	p.G69C		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	69					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.27907	31.386268	33.271129	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86697741	86697741	377	15	G	T	T	T	611	47	AGBL1	2	2
RLBP1	6017	broad.mit.edu	37	15	89760499	89760499	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89760499C>A	uc002bnl.2	-	c.198G>T	c.(196-198)CTG>CTT	p.L66L		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	66					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)									0.222222	13.647103	15.55592	6	21	KEEP	---	---	---	---	capture		Silent	SNP	89760499	89760499	13865	15	C	A	A	A	314	25	RLBP1	2	2
GPRC5B	51704	broad.mit.edu	37	16	19883864	19883864	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19883864C>A	uc010vav.1	-	c.382G>T	c.(382-384)GGG>TGG	p.G128W	GPRC5B_uc002dgt.2_Missense_Mutation_p.G102W	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	102	Helical; Name=2; (Potential).										0														0.347826	23.394206	23.863778	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19883864	19883864	7001	16	C	A	A	A	286	22	GPRC5B	2	2
DNAH3	55567	broad.mit.edu	37	16	20996653	20996653	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20996653C>G	uc010vbe.1	-	c.7411G>C	c.(7411-7413)GAA>CAA	p.E2471Q	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2471	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.458333	35.022703	35.058965	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20996653	20996653	4786	16	C	G	G	G	416	32	DNAH3	3	3
ANKS4B	257629	broad.mit.edu	37	16	21261268	21261268	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21261268G>C	uc010bwp.1	+	c.381G>C	c.(379-381)ATG>ATC	p.M127I	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	127										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)										0.25	15.136459	16.501808	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21261268	21261268	699	16	G	C	C	C	585	45	ANKS4B	3	3
ARHGAP17	55114	broad.mit.edu	37	16	24953396	24953396	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24953396T>A	uc002dnb.2	-	c.1402A>T	c.(1402-1404)ACT>TCT	p.T468S	ARHGAP17_uc002dmz.2_5'Flank|ARHGAP17_uc002dna.2_Missense_Mutation_p.T195S|ARHGAP17_uc002dnc.2_Missense_Mutation_p.T468S|ARHGAP17_uc010vcf.1_Missense_Mutation_p.T289S	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)										0.34375	95.732956	97.809064	33	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24953396	24953396	878	16	T	A	A	A	767	59	ARHGAP17	3	3
ARHGAP17	55114	broad.mit.edu	37	16	24975516	24975516	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24975516A>G	uc002dnb.2	-	c.573_splice	c.e7+1	p.K191_splice	ARHGAP17_uc002dnc.2_Splice_Site_SNP_p.K191_splice|ARHGAP17_uc010vcf.1_Splice_Site_SNP_p.K12_splice|ARHGAP17_uc002dnf.2_Splice_Site_SNP_p.K99_splice|ARHGAP17_uc002dng.1_Splice_Site_SNP_p.K191_splice	NM_001006634	NP_001006635			nadrin isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)										0.071429	-2.477026	10.774901	5	65	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	24975516	24975516	878	16	A	G	G	G	182	14	ARHGAP17	5	4
ZNF597	146434	broad.mit.edu	37	16	3487213	3487213	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3487213G>T	uc002cvd.2	-	c.486C>A	c.(484-486)GAC>GAA	p.D162E		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	162	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.338462	63.430282	64.929991	22	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3487213	3487213	18622	16	G	T	T	T	568	44	ZNF597	2	2
ABCC11	85320	broad.mit.edu	37	16	48201239	48201239	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48201239C>T	uc002eff.1	-	c.4095G>A	c.(4093-4095)AAG>AAA	p.K1365K	ABCC11_uc002efg.1_Silent_p.K1365K|ABCC11_uc002efh.1_Silent_p.K1327K|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1365	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.125	11.376354	20.151231	8	56	KEEP	---	---	---	---	capture		Silent	SNP	48201239	48201239	52	16	C	T	T	T	363	28	ABCC11	2	2
SEPT12	124404	broad.mit.edu	37	16	4836082	4836082	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4836082G>A	uc002cxq.2	-	c.191C>T	c.(190-192)ACG>ATG	p.T64M	SEPT12_uc002cxr.2_Missense_Mutation_p.T64M|SEPT12_uc010bty.2_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	64					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity				0														0.333333	8.62355	8.844181	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4836082	4836082	14548	16	G	A	A	A	520	40	SEPT12	1	1
SETD6	79918	broad.mit.edu	37	16	58552873	58552873	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58552873C>A	uc002ens.2	+	c.1362C>A	c.(1360-1362)GCC>GCA	p.A454A	SETD6_uc002enr.2_Silent_p.A430A|SETD6_uc010cdm.2_Non-coding_Transcript	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	454					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1														0.173913	7.486436	9.794798	4	19	KEEP	---	---	---	---	capture		Silent	SNP	58552873	58552873	14624	16	C	A	A	A	301	24	SETD6	2	2
CDH8	1006	broad.mit.edu	37	16	61687545	61687545	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61687545G>C	uc002eog.1	-	c.2367C>G	c.(2365-2367)CTC>CTG	p.L789L		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	789	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.27907	35.881358	37.76894	12	31	KEEP	---	---	---	---	capture		Silent	SNP	61687545	61687545	3245	16	G	C	C	C	418	33	CDH8	3	3
ATP6V0D1	9114	broad.mit.edu	37	16	67487552	67487552	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67487552G>T	uc010vjo.1	-	c.197C>A	c.(196-198)ACG>AAG	p.T66K	ATP6V0D1_uc002ete.1_Missense_Mutation_p.T66K|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	66					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)										0.392857	67.786614	68.332767	22	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67487552	67487552	1192	16	G	T	T	T	520	40	ATP6V0D1	1	1
EDC4	23644	broad.mit.edu	37	16	67914657	67914657	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67914657G>A	uc002eur.2	+	c.2295G>A	c.(2293-2295)GAG>GAA	p.E765E	EDC4_uc010cer.2_Silent_p.E384E|EDC4_uc002eus.2_Silent_p.E495E|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	765					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)										0.210526	15.681681	18.627281	8	30	KEEP	---	---	---	---	capture		Silent	SNP	67914657	67914657	5095	16	G	A	A	A	438	34	EDC4	2	2
ZNF23	7571	broad.mit.edu	37	16	71483710	71483710	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71483710T>C	uc002fai.2	-	c.335A>G	c.(334-336)GAC>GGC	p.D112G	ZNF23_uc002fad.2_Missense_Mutation_p.D15G|ZNF23_uc002fae.2_Missense_Mutation_p.D15G|ZNF23_uc002faf.2_Missense_Mutation_p.D73G|ZNF23_uc010vmf.1_Missense_Mutation_p.D15G|ZNF23_uc002fag.2_Missense_Mutation_p.D15G|ZNF23_uc002fah.2_Missense_Mutation_p.D73G	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.378378	75.760554	76.79748	28	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71483710	71483710	18374	16	T	C	C	C	754	58	ZNF23	4	4
WDR59	79726	broad.mit.edu	37	16	74927627	74927627	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74927627C>A	uc002fdh.1	-	c.1950G>T	c.(1948-1950)CAG>CAT	p.Q650H	WDR59_uc002fdf.1_Missense_Mutation_p.Q95H|WDR59_uc002fdg.1_Missense_Mutation_p.Q242H	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	650										ovary(1)|breast(1)	2														0.266667	20.785484	22.261481	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74927627	74927627	17881	16	C	A	A	A	311	24	WDR59	2	2
MYH1	4619	broad.mit.edu	37	17	10406525	10406525	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10406525T>A	uc002gmo.2	-	c.2732A>T	c.(2731-2733)CAG>CTG	p.Q911L		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	911	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.363636	47.89813	48.61301	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10406525	10406525	10424	17	T	A	A	A	715	55	MYH1	3	3
DNAH9	1770	broad.mit.edu	37	17	11660891	11660891	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11660891G>T	uc002gne.2	+	c.6877G>T	c.(6877-6879)GGA>TGA	p.G2293*	DNAH9_uc010coo.2_Nonsense_Mutation_p.G1587*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2293	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.338235	61.704473	63.277764	23	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11660891	11660891	4791	17	G	T	T	T	559	43	DNAH9	5	2
SARM1	23098	broad.mit.edu	37	17	26711501	26711501	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26711501C>A	uc010crl.1	+	c.1215C>A	c.(1213-1215)ATC>ATA	p.I405I	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_5'Flank	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	405					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)										0.333333	11.463382	11.83571	5	10	KEEP	---	---	---	---	capture		Silent	SNP	26711501	26711501	14323	17	C	A	A	A	382	30	SARM1	2	2
MYO19	80179	broad.mit.edu	37	17	34863706	34863706	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34863706C>G	uc010wcy.1	-	c.1289G>C	c.(1288-1290)TGC>TCC	p.C430S	MYO19_uc002hmw.2_Missense_Mutation_p.C430S|MYO19_uc010cuu.2_Non-coding_Transcript|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	430	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)										0.2	10.18843	11.862433	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34863706	34863706	10462	17	C	G	G	G	325	25	MYO19	3	3
KRT40	125115	broad.mit.edu	37	17	39140293	39140293	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39140293G>T	uc010cxh.1	-	c.233C>A	c.(232-234)GCC>GAC	p.A78D	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	78	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)												0.275281	117.16538	125.294093	49	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39140293	39140293	8793	17	G	T	T	T	546	42	KRT40	2	2
KRT15	3866	broad.mit.edu	37	17	39672374	39672374	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39672374C>A	uc002hwy.2	-	c.882G>T	c.(880-882)GAG>GAT	p.E294D	KRT15_uc002hwz.2_Missense_Mutation_p.E196D|KRT15_uc002hxa.2_Missense_Mutation_p.E129D|KRT15_uc002hxb.1_Missense_Mutation_p.E129D	NM_002275	NP_002266	P19012	K1C15_HUMAN	keratin 15	294	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000286)												0.338462	60.327842	61.828675	22	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39672374	39672374	8767	17	C	A	A	A	311	24	KRT15	2	2
RAB5C	5878	broad.mit.edu	37	17	40278778	40278778	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40278778G>A	uc010cxx.2	-	c.629C>T	c.(628-630)GCA>GTA	p.A210V	RAB5C_uc002hyz.2_Missense_Mutation_p.A177V|RAB5C_uc002hza.2_Missense_Mutation_p.A177V|RAB5C_uc010cxy.2_Missense_Mutation_p.A89V	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	177					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)										0.212903	69.384838	81.129752	33	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40278778	40278778	13409	17	G	A	A	A	598	46	RAB5C	2	2
KIAA1267	284058	broad.mit.edu	37	17	44127970	44127970	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44127970T>A	uc002ikb.2	-	c.1949A>T	c.(1948-1950)TAT>TTT	p.Y650F	KIAA1267_uc002ikc.2_Missense_Mutation_p.Y650F|KIAA1267_uc002ikd.2_Missense_Mutation_p.Y650F|KIAA1267_uc010dav.2_Missense_Mutation_p.Y650F	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	650						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.242424	41.380605	45.364133	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44127970	44127970	8528	17	T	A	A	A	637	49	KIAA1267	3	3
TBX21	30009	broad.mit.edu	37	17	45821856	45821856	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45821856G>T	uc002ilv.1	+	c.936G>T	c.(934-936)CAG>CAT	p.Q312H		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	312	T-box.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.154472	32.344496	46.383634	19	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45821856	45821856	16183	17	G	T	T	T	438	34	TBX21	2	2
COL1A1	1277	broad.mit.edu	37	17	48277195	48277195	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48277195C>T	uc002iqm.2	-	c.217G>A	c.(217-219)GTG>ATG	p.V73M		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	73	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding|transcription activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|breast(1)|pancreas(1)	381					Collagenase(DB00048)|Palifermin(DB00039)					504				0.210256	91.925955	107.036	41	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48277195	48277195	3815	17	C	T	T	T	247	19	COL1A1	1	1
TOM1L1	10040	broad.mit.edu	37	17	52990025	52990025	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:52990025A>T	uc002iud.2	+	c.223_splice	c.e4-2	p.L75_splice	TOM1L1_uc002iub.2_Splice_Site_SNP_p.L40_splice|TOM1L1_uc002iuc.2_Splice_Site_SNP_p.L75_splice|TOM1L1_uc010dca.1_Splice_Site_SNP_p.L75_splice|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Splice_Site_SNP|TOM1L1_uc010dbz.2_Splice_Site_SNP|TOM1L1_uc010wnd.1_Splice_Site_SNP|TOM1L1_uc010dcb.1_5'Flank	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1														0.348837	42.611285	43.478678	15	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	52990025	52990025	16893	17	A	T	T	T	195	15	TOM1L1	5	3
OR4D2	124538	broad.mit.edu	37	17	56247586	56247586	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56247586T>A	uc010wnp.1	+	c.570T>A	c.(568-570)ACT>ACA	p.T190T		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.214286	79.98993	91.602776	33	121	KEEP	---	---	---	---	capture		Silent	SNP	56247586	56247586	11463	17	T	A	A	A	704	55	OR4D2	3	3
TEX14	56155	broad.mit.edu	37	17	56636858	56636858	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56636858G>T	uc010dcz.1	-	c.4361C>A	c.(4360-4362)CCA>CAA	p.P1454Q	TEX14_uc002iwr.1_Missense_Mutation_p.P1448Q|TEX14_uc002iws.1_Missense_Mutation_p.P1408Q|TEX14_uc010dda.1_Missense_Mutation_p.P1188Q	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1454					protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.333333	168.798144	173.075595	58	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56636858	56636858	16305	17	G	T	T	T	611	47	TEX14	2	2
NACA2	342538	broad.mit.edu	37	17	59668401	59668401	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59668401G>T	uc002izj.2	-	c.141C>A	c.(139-141)ACC>ACA	p.T47T		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	47					protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)													0.262295	38.765021	41.889579	16	45	KEEP	---	---	---	---	capture		Silent	SNP	59668401	59668401	10529	17	G	T	T	T	600	47	NACA2	2	2
CD300C	10871	broad.mit.edu	37	17	72537795	72537795	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72537795A>G	uc002jky.1	-	c.608T>C	c.(607-609)CTC>CCC	p.L203P		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	203	Helical; (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						Esophageal Squamous(66;421 1121 20537 25337 27468)								0.304348	82.16022	85.305822	28	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72537795	72537795	3125	17	A	G	G	G	143	11	CD300C	4	4
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577570C>T	uc002gim.2	-	c.711G>A	c.(709-711)ATG>ATA	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	237	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		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 gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.M237I(92)|p.0?(6)|p.Y236_M237delYM(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		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)		Pancreas(47;798 1329 9957 10801)		111	p.M237I(NCIH1869-Tumor)|p.M237I(CALU3-Tumor)|p.M237I(LC1F-Tumor)|p.M237I(T98G-Tumor)|p.M237I(LC1SQSF-Tumor)|p.M237I(PK1-Tumor)|p.M237I(TE8-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.428571	59.365306	59.583584	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577570	7577570	16923	17	C	T	T	T	221	17	TP53	2	2
ENGASE	64772	broad.mit.edu	37	17	77077087	77077087	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77077087G>A	uc002jwv.2	+	c.804G>A	c.(802-804)GTG>GTA	p.V268V	ENGASE_uc002jwu.1_Silent_p.V268V|ENGASE_uc010wtz.1_Silent_p.V82V|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	268						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity				0														0.444444	9.890818	9.915933	4	5	KEEP	---	---	---	---	capture		Silent	SNP	77077087	77077087	5311	17	G	A	A	A	587	46	ENGASE	2	2
NARF	26502	broad.mit.edu	37	17	80417920	80417920	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80417920C>T	uc010dit.2	+	c.80C>T	c.(79-81)GCA>GTA	p.A27V	NARF_uc002kff.3_5'UTR|NARF_uc010wvo.1_Missense_Mutation_p.A27V|NARF_uc010wvp.1_5'UTR|NARF_uc002kfg.3_Missense_Mutation_p.A27V|NARF_uc002kfj.3_Missense_Mutation_p.A27V|NARF_uc002kfi.3_Non-coding_Transcript|NARF_uc002kfh.3_Missense_Mutation_p.A27V	NM_031968	NP_114174	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform b	27						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)											0.2	6.626886	7.874693	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80417920	80417920	10563	17	C	T	T	T	325	25	NARF	2	2
MFSD6L	162387	broad.mit.edu	37	17	8701314	8701314	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8701314A>G	uc002glp.1	-	c.1125T>C	c.(1123-1125)ACT>ACC	p.T375T		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	375	Helical; (Potential).					integral to membrane					0														0.307692	12.396109	12.824116	4	9	KEEP	---	---	---	---	capture		Silent	SNP	8701314	8701314	9926	17	A	G	G	G	80	7	MFSD6L	4	4
PIK3R5	23533	broad.mit.edu	37	17	8791675	8791675	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8791675G>A	uc002glt.2	-	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	PIK3R5_uc010vuz.1_Missense_Mutation_p.R477C|PIK3R5_uc002glu.3_Missense_Mutation_p.R91C|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Missense_Mutation_p.R91C	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	477					platelet activation	cytosol|membrane|nucleus				large_intestine(1)|central_nervous_system(1)	2						NSCLC(18;589 615 7696 20311 50332)								0.5	12.599766	12.599766	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8791675	8791675	12346	17	G	A	A	A	507	39	PIK3R5	1	1
WDR16	146845	broad.mit.edu	37	17	9511513	9511513	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9511513A>C	uc002gly.2	+	c.831A>C	c.(829-831)AAA>AAC	p.K277N	WDR16_uc002glz.2_Missense_Mutation_p.K209N|WDR16_uc010coc.2_Missense_Mutation_p.K287N	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	277						cytoplasm|intracellular membrane-bounded organelle	protein binding			ovary(1)	1														0.285714	16.938383	17.806051	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9511513	9511513	17849	17	A	C	C	C	11	1	WDR16	4	4
CEP192	55125	broad.mit.edu	37	18	13087592	13087592	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:13087592A>G	uc010xac.1	+	c.5940A>G	c.(5938-5940)CTA>CTG	p.L1980L	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.1_Silent_p.L1505L|CEP192_uc002kru.2_Non-coding_Transcript|CEP192_uc002krv.2_Silent_p.L402L|CEP192_uc002krw.2_Silent_p.L129L|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1980										ovary(4)|pancreas(1)	5														0.230769	42.096828	46.409931	15	50	KEEP	---	---	---	---	capture		Silent	SNP	13087592	13087592	3384	18	A	G	G	G	197	16	CEP192	4	4
OSBPL1A	114876	broad.mit.edu	37	18	21894275	21894275	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21894275A>T	uc002kve.2	-	c.907T>A	c.(907-909)TGC>AGC	p.C303S	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.C83S	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	303	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport	intracellular	phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)													0.296296	44.585086	46.586323	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21894275	21894275	11688	18	A	T	T	T	104	8	OSBPL1A	3	3
ZNF521	25925	broad.mit.edu	37	18	22805974	22805974	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22805974A>C	uc002kvk.2	-	c.1908T>G	c.(1906-1908)TGT>TGG	p.C636W	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.C636W|ZNF521_uc002kvl.2_Missense_Mutation_p.C416W	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	636	C2H2-type 14.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.382812	152.560174	154.095623	49	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22805974	22805974	18559	18	A	C	C	C	180	14	ZNF521	4	4
ZNF521	25925	broad.mit.edu	37	18	22806155	22806155	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22806155T>G	uc002kvk.2	-	c.1727A>C	c.(1726-1728)AAA>ACA	p.K576T	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K576T|ZNF521_uc002kvl.2_Missense_Mutation_p.K356T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	576	C2H2-type 13; atypical.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.376812	87.136414	88.054303	26	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22806155	22806155	18559	18	T	G	G	G	832	64	ZNF521	4	4
CDH2	1000	broad.mit.edu	37	18	25568621	25568621	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25568621T>C	uc002kwg.2	-	c.1608A>G	c.(1606-1608)AAA>AAG	p.K536K	CDH2_uc010xbn.1_Silent_p.K505K	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	536	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.227273	13.764051	15.265309	5	17	KEEP	---	---	---	---	capture		Silent	SNP	25568621	25568621	3234	18	T	C	C	C	673	52	CDH2	4	4
CDH2	1000	broad.mit.edu	37	18	25573592	25573592	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25573592G>T	uc002kwg.2	-	c.1030C>A	c.(1030-1032)CAG>AAG	p.Q344K	CDH2_uc010xbn.1_Missense_Mutation_p.Q313K	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	344	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.441176	93.238136	93.443508	30	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25573592	25573592	3234	18	G	T	T	T	624	48	CDH2	2	2
DSG3	1830	broad.mit.edu	37	18	29037052	29037052	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29037052G>T	uc002kws.2	+	c.181G>T	c.(181-183)GGA>TGA	p.G61*		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	61	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.194631	60.648096	73.680067	29	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29037052	29037052	4962	18	G	T	T	T	455	35	DSG3	5	2
FAM59A	64762	broad.mit.edu	37	18	29867048	29867048	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29867048C>T	uc002kxl.2	-	c.1512G>A	c.(1510-1512)GTG>GTA	p.V504V	FAM59A_uc002kxk.1_Silent_p.V504V	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	504										ovary(1)	1														0.113208	11.416993	27.081976	12	94	KEEP	---	---	---	---	capture		Silent	SNP	29867048	29867048	5814	18	C	T	T	T	366	29	FAM59A	2	2
GALNT1	2589	broad.mit.edu	37	18	33267090	33267090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33267090G>A	uc010dmu.2	+	c.800G>A	c.(799-801)TGG>TAG	p.W267*	GALNT1_uc002kyz.3_Nonsense_Mutation_p.W207*|GALNT1_uc002kzb.2_Nonsense_Mutation_p.W267*	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	267	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.282609	69.609623	73.516489	26	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33267090	33267090	6471	18	G	A	A	A	611	47	GALNT1	5	2
FHOD3	80206	broad.mit.edu	37	18	34081944	34081944	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34081944C>T	uc002kzs.1	+	c.387C>T	c.(385-387)TCC>TCT	p.S129S	FHOD3_uc002kzr.1_Silent_p.S129S|FHOD3_uc002kzt.1_Silent_p.S129S	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.2	12.360643	14.453132	5	20	KEEP	---	---	---	---	capture		Silent	SNP	34081944	34081944	6121	18	C	T	T	T	275	22	FHOD3	2	2
SETBP1	26040	broad.mit.edu	37	18	42449213	42449213	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42449213C>T	uc010dni.2	+	c.505C>T	c.(505-507)CTT>TTT	p.L169F	SETBP1_uc002lay.2_Missense_Mutation_p.L169F	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	169						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.309091	50.564952	52.345422	17	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42449213	42449213	14617	18	C	T	T	T	312	24	SETBP1	2	2
SETBP1	26040	broad.mit.edu	37	18	42531077	42531077	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42531077A>T	uc010dni.2	+	c.1772A>T	c.(1771-1773)AAG>ATG	p.K591M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	591	A.T hook 1.					nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.310345	94.660765	98.3757	36	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42531077	42531077	14617	18	A	T	T	T	39	3	SETBP1	3	3
SLC14A1	6563	broad.mit.edu	37	18	43329753	43329753	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43329753C>T	uc010dnk.2	+	c.1175C>T	c.(1174-1176)CCA>CTA	p.P392L	SLC14A1_uc010xcn.1_Missense_Mutation_p.P336L|SLC14A1_uc002lbf.3_Missense_Mutation_p.P336L|SLC14A1_uc002lbg.3_Non-coding_Transcript|SLC14A1_uc010xco.1_Missense_Mutation_p.P231L|SLC14A1_uc002lbh.3_Missense_Mutation_p.P228L|SLC14A1_uc002lbi.3_Missense_Mutation_p.P204L|SLC14A1_uc002lbj.3_Missense_Mutation_p.P392L|SLC14A1_uc002lbk.3_Missense_Mutation_p.P336L	NM_001128588	NP_001122060	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	336	Helical; (Potential).					integral to plasma membrane	ubiquitin-ubiquitin ligase activity|urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2										201				0.173913	14.253254	18.904288	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43329753	43329753	14891	18	C	T	T	T	273	21	SLC14A1	2	2
KIAA1632	57724	broad.mit.edu	37	18	43490647	43490647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43490647C>A	uc002lbm.2	-	c.4044G>T	c.(4042-4044)TTG>TTT	p.L1348F	KIAA1632_uc002lbo.1_Missense_Mutation_p.L1348F|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_Non-coding_Transcript|KIAA1632_uc010xcs.1_Non-coding_Transcript|KIAA1632_uc002lbn.2_Missense_Mutation_p.L223F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1348					autophagy						0												OREG0024952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.387097	74.698591	75.386556	24	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43490647	43490647	8558	18	C	A	A	A	220	17	KIAA1632	2	2
EPB41L3	23136	broad.mit.edu	37	18	5419722	5419722	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5419722C>G	uc002kmt.1	-	c.1494G>C	c.(1492-1494)CGG>CGC	p.R498R	EPB41L3_uc010wzh.1_Silent_p.R516R|EPB41L3_uc002kmu.1_Silent_p.R516R|EPB41L3_uc010dkq.1_Silent_p.R407R|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.R77R	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806).	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.064516	-2.434937	9.770635	4	58	KEEP	---	---	---	---	capture		Silent	SNP	5419722	5419722	5347	18	C	G	G	G	327	26	EPB41L3	3	3
MC4R	4160	broad.mit.edu	37	18	58039571	58039571	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:58039571G>A	uc002lie.1	-	c.12C>T	c.(10-12)TCC>TCT	p.S4S		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	4	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding				0		Colorectal(73;0.0946)												0.242424	42.470473	46.46157	16	50	KEEP	---	---	---	---	capture		Silent	SNP	58039571	58039571	9755	18	G	A	A	A	600	47	MC4R	2	2
CDH20	28316	broad.mit.edu	37	18	59221422	59221422	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59221422G>A	uc010dps.1	+	c.1901_splice	c.e11-1	p.V634_splice	CDH20_uc002lif.2_Splice_Site_SNP_p.V628_splice	NM_031891	NP_114097			cadherin 20, type 2 preproprotein						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)												0.257143	23.762604	25.63128	9	26	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	59221422	59221422	3235	18	G	A	A	A	468	36	CDH20	5	2
RTTN	25914	broad.mit.edu	37	18	67817252	67817252	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67817252C>A	uc002lkp.2	-	c.2127G>T	c.(2125-2127)TGG>TGT	p.W709C	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	709							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.234375	31.590616	35.726053	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67817252	67817252	14217	18	C	A	A	A	390	30	RTTN	2	2
LAMA1	284217	broad.mit.edu	37	18	7013968	7013968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7013968C>A	uc002knm.2	-	c.3209G>T	c.(3208-3210)GGT>GTT	p.G1070V	LAMA1_uc010wzj.1_Missense_Mutation_p.G546V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1070	Laminin EGF-like 12.				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)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.1875	6.716141	8.178769	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7013968	7013968	8928	18	C	A	A	A	234	18	LAMA1	2	2
TSHZ1	10194	broad.mit.edu	37	18	72999442	72999442	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72999442G>T	uc002lly.2	+	c.1945G>T	c.(1945-1947)GGC>TGC	p.G649C		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	694					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)										0.342105	34.942001	35.742227	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72999442	72999442	17174	18	G	T	T	T	559	43	TSHZ1	2	2
ZNF236	7776	broad.mit.edu	37	18	74620298	74620298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74620298C>T	uc002lmi.2	+	c.2314C>T	c.(2314-2316)CAA>TAA	p.Q772*	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	772					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.305556	57.04396	59.462906	22	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74620298	74620298	18380	18	C	T	T	T	273	21	ZNF236	5	2
TWSG1	57045	broad.mit.edu	37	18	9360051	9360051	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9360051G>C	uc002knz.2	+	c.205G>C	c.(205-207)GAG>CAG	p.E69Q	TWSG1_uc002koa.2_5'UTR	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	twisted gastrulation precursor	69	Cys-rich.									ovary(1)|pancreas(1)	2														0.206349	31.349655	36.378625	13	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9360051	9360051	17341	18	G	C	C	C	481	37	TWSG1	3	3
COL5A3	50509	broad.mit.edu	37	19	10116529	10116529	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10116529C>A	uc002mmq.1	-	c.380G>T	c.(379-381)GGT>GTT	p.G127V		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	127	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.444444	12.899024	12.923202	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10116529	10116529	3836	19	C	A	A	A	234	18	COL5A3	2	2
OR4F17	81099	broad.mit.edu	37	19	110736	110736	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:110736C>A	uc002loc.1	+	c.58C>A	c.(58-60)CTA>ATA	p.L20I	OR4F17_uc002lob.1_Missense_Mutation_p.L20I	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F,	20	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.114894	59.762847	128.420497	54	416	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110736	110736	11470	19	C	A	A	A	311	24	OR4F17	2	2
C19orf42	79086	broad.mit.edu	37	19	16764924	16764924	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16764924C>A	uc002ner.2	-	c.134G>T	c.(133-135)CGG>CTG	p.R45L	C19orf42_uc002neo.1_Non-coding_Transcript|C19orf42_uc002nep.1_Intron	NM_024104	NP_077009	Q9BQ49	CS042_HUMAN	hypothetical protein LOC79086 precursor	45	Extracellular (Potential).					integral to membrane					0														0.25	28.336218	30.604848	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16764924	16764924	1989	19	C	A	A	A	299	23	C19orf42	1	1
NWD1	284434	broad.mit.edu	37	19	16874686	16874686	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16874686G>T	uc002net.3	+	c.1776G>T	c.(1774-1776)CGG>CGT	p.R592R	NWD1_uc002neu.3_Silent_p.R727R|NWD1_uc002nev.3_Silent_p.R521R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	727							ATP binding			ovary(2)|pancreas(2)	4														0.458333	32.321805	32.358156	11	13	KEEP	---	---	---	---	capture		Silent	SNP	16874686	16874686	11186	19	G	T	T	T	522	41	NWD1	2	2
NWD1	284434	broad.mit.edu	37	19	16925862	16925862	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16925862G>T	uc002net.3	+	c.4012G>T	c.(4012-4014)GTC>TTC	p.V1338F	NWD1_uc002neu.3_3'UTR|NWD1_uc002nev.3_Missense_Mutation_p.V1267F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1473							ATP binding			ovary(2)|pancreas(2)	4														0.5	46.409452	46.409452	15	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16925862	16925862	11186	19	G	T	T	T	624	48	NWD1	2	2
NCAN	1463	broad.mit.edu	37	19	19338219	19338219	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19338219C>T	uc002nlz.2	+	c.1790C>T	c.(1789-1791)CCA>CTA	p.P597L	NCAN_uc010ecc.1_Missense_Mutation_p.P161L	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	597					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.444444	12.300094	12.324039	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19338219	19338219	10603	19	C	T	T	T	273	21	NCAN	2	2
LMNB2	84823	broad.mit.edu	37	19	2432450	2432450	+	Silent	SNP	C	A	A	rs11882908	byFrequency;by1000genomes	TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2432450C>A	uc002lwa.1	-	c.1554G>T	c.(1552-1554)ACG>ACT	p.T518T	LMNB2_uc010dtc.1_5'Flank|LMNB2_uc002lvy.2_Silent_p.T498T	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	498	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)					p.T518T(A704-Tumor)|p.T518T(KG1-Tumor)|p.T518T(NCIH2172-Tumor)|p.T518T(AML193-Tumor)	1275				0.3	8.326888	8.680967	3	7	KEEP	---	---	---	---	capture		Silent	SNP	2432450	2432450	9179	19	C	A	A	A	340	27	LMNB2	1	1
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30934886C>T	uc002nsu.1	+	c.417C>T	c.(415-417)TTC>TTT	p.F139F	ZNF536_uc010edd.1_Silent_p.F139F	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	139	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.2	19.91288	24.11351	10	40	KEEP	---	---	---	---	capture		Silent	SNP	30934886	30934886	18568	19	C	T	T	T	389	30	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	30935348	30935348	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935348C>G	uc002nsu.1	+	c.879C>G	c.(877-879)ATC>ATG	p.I293M	ZNF536_uc010edd.1_Missense_Mutation_p.I293M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	293	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.185185	36.602393	44.108855	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30935348	30935348	18568	19	C	G	G	G	382	30	ZNF536	3	3
ZNF536	9745	broad.mit.edu	37	19	30935354	30935354	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935354C>T	uc002nsu.1	+	c.885C>T	c.(883-885)ATC>ATT	p.I295I	ZNF536_uc010edd.1_Silent_p.I295I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	295	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.177215	27.005319	34.774811	14	65	KEEP	---	---	---	---	capture		Silent	SNP	30935354	30935354	18568	19	C	T	T	T	408	32	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	30935951	30935951	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935951C>T	uc002nsu.1	+	c.1482C>T	c.(1480-1482)CTC>CTT	p.L494L	ZNF536_uc010edd.1_Silent_p.L494L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.151515	7.979988	11.797018	5	28	KEEP	---	---	---	---	capture		Silent	SNP	30935951	30935951	18568	19	C	T	T	T	392	31	ZNF536	1	1
ZNF536	9745	broad.mit.edu	37	19	30936085	30936085	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936085C>G	uc002nsu.1	+	c.1616C>G	c.(1615-1617)TCT>TGT	p.S539C	ZNF536_uc010edd.1_Missense_Mutation_p.S539C	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.242424	19.108784	21.088924	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30936085	30936085	18568	19	C	G	G	G	416	32	ZNF536	3	3
ZNF536	9745	broad.mit.edu	37	19	30936096	30936096	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936096C>T	uc002nsu.1	+	c.1627C>T	c.(1627-1629)CCG>TCG	p.P543S	ZNF536_uc010edd.1_Missense_Mutation_p.P543S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.146341	8.06042	12.976544	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30936096	30936096	18568	19	C	T	T	T	390	30	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	30936551	30936551	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936551C>G	uc002nsu.1	+	c.2082C>G	c.(2080-2082)GTC>GTG	p.V694V	ZNF536_uc010edd.1_Silent_p.V694V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.285714	11.394144	11.971064	4	10	KEEP	---	---	---	---	capture		Silent	SNP	30936551	30936551	18568	19	C	G	G	G	366	29	ZNF536	3	3
ZNF536	9745	broad.mit.edu	37	19	30936612	30936612	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30936612C>T	uc002nsu.1	+	c.2143C>T	c.(2143-2145)CCG>TCG	p.P715S	ZNF536_uc010edd.1_Missense_Mutation_p.P715S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.375	17.042163	17.262917	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30936612	30936612	18568	19	C	T	T	T	286	22	ZNF536	2	2
ZNF536	9745	broad.mit.edu	37	19	31038849	31038849	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31038849G>A	uc002nsu.1	+	c.2324_splice	c.e4-1	p.G775_splice	ZNF536_uc010edd.1_Splice_Site_SNP_p.G775_splice	NM_014717	NP_055532			zinc finger protein 536						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.271186	45.373813	48.159375	16	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31038849	31038849	18568	19	G	A	A	A	455	35	ZNF536	5	2
CD22	933	broad.mit.edu	37	19	35829208	35829208	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35829208G>A	uc010edt.2	+	c.1123G>A	c.(1123-1125)GGA>AGA	p.G375R	CD22_uc010xst.1_Missense_Mutation_p.G203R|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Missense_Mutation_p.G375R|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	375	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.268775	186.887951	199.039956	68	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35829208	35829208	3112	19	G	A	A	A	559	43	CD22	2	2
CD22	933	broad.mit.edu	37	19	35832042	35832042	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35832042G>T	uc010edt.2	+	c.1507_splice	c.e7+1	p.Y503_splice	CD22_uc010xst.1_Splice_Site_SNP_p.Y331_splice|CD22_uc010edu.2_Splice_Site_SNP_p.Y415_splice|CD22_uc010edv.2_Splice_Site_SNP_p.Y503_splice|CD22_uc002nzb.3_Splice_Site_SNP_p.Y326_splice|CD22_uc010edx.2_Splice_Site_SNP	NM_001771	NP_001762			CD22 molecule precursor						cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.279279	83.276237	88.140665	31	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	35832042	35832042	3112	19	G	T	T	T	624	48	CD22	5	2
ZNF571	51276	broad.mit.edu	37	19	38055807	38055807	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38055807T>A	uc002ogt.2	-	c.1523A>T	c.(1522-1524)GAC>GTC	p.D508V	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.2_Missense_Mutation_p.D508V	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	508	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.282051	54.521085	57.848795	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38055807	38055807	18598	19	T	A	A	A	754	58	ZNF571	3	3
SIPA1L3	23094	broad.mit.edu	37	19	38610446	38610446	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38610446G>T	uc002ohk.2	+	c.2792G>T	c.(2791-2793)GGA>GTA	p.G931V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	931					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.538462	21.425899	21.442665	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38610446	38610446	14826	19	G	T	T	T	533	41	SIPA1L3	2	2
GGN	199720	broad.mit.edu	37	19	38877076	38877076	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38877076G>T	uc002oij.1	-	c.826C>A	c.(826-828)CTC>ATC	p.L276I	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.L193I	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	276	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.545455	16.749714	16.769524	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38877076	38877076	6626	19	G	T	T	T	455	35	GGN	2	2
RYR1	6261	broad.mit.edu	37	19	38976291	38976291	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38976291C>A	uc002oit.2	+	c.4996C>A	c.(4996-4998)CTG>ATG	p.L1666M	RYR1_uc002oiu.2_Missense_Mutation_p.L1666M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1666	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.4	28.943483	29.162522	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976291	38976291	14248	19	C	A	A	A	311	24	RYR1	2	2
CYP2A7	1549	broad.mit.edu	37	19	41383234	41383234	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41383234G>T	uc002opm.2	-	c.1022C>A	c.(1021-1023)CCC>CAC	p.P341H	CYP2A7_uc002opo.2_Missense_Mutation_p.P341H|CYP2A7_uc002opn.2_Missense_Mutation_p.P290H	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	341					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)							177				0.361111	35.22596	35.81174	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41383234	41383234	4328	19	G	T	T	T	559	43	CYP2A7	2	2
AXL	558	broad.mit.edu	37	19	41745202	41745202	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41745202T>A	uc010ehj.2	+	c.1268T>A	c.(1267-1269)CTG>CAG	p.L423Q	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.L423Q|AXL_uc010ehk.2_Missense_Mutation_p.L423Q	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	423	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L423Q(1)		lung(3)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)	8										318				0.196429	26.799222	31.602691	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41745202	41745202	1259	19	T	A	A	A	715	55	AXL	3	3
VASP	7408	broad.mit.edu	37	19	46029247	46029247	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46029247A>G	uc002pcg.2	+	c.1091A>G	c.(1090-1092)GAG>GGG	p.E364G	VASP_uc010eki.2_Missense_Mutation_p.E198G|VASP_uc002pci.2_Missense_Mutation_p.E350G	NM_003370	NP_003361	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	364	2 X 15 AA tandem repeats of L-[EQ]-[KR]- [MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]- [KRV]-[KQ]-E.|2.|Potential.|EVH2.|EVH2 block C.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)										0.11336	28.692286	65.2473	28	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46029247	46029247	17693	19	A	G	G	G	143	11	VASP	4	4
PTGIR	5739	broad.mit.edu	37	19	47124832	47124832	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47124832G>T	uc002pex.2	-	c.866C>A	c.(865-867)CCC>CAC	p.P289H		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	289	Helical; Name=7; (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)									0.347826	41.583028	42.524485	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47124832	47124832	13206	19	G	T	T	T	559	43	PTGIR	2	2
SULT2A1	6822	broad.mit.edu	37	19	48385427	48385427	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48385427G>T	uc002phr.2	-	c.386C>A	c.(385-387)TCT>TAT	p.S129Y		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	129	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)										0.433735	104.077697	104.397043	36	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48385427	48385427	15901	19	G	T	T	T	429	33	SULT2A1	2	2
RUVBL2	10856	broad.mit.edu	37	19	49506546	49506546	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49506546C>G	uc002plr.1	+	c.78C>G	c.(76-78)TCC>TCG	p.S26S	RUVBL2_uc002plq.1_5'UTR|RUVBL2_uc010yab.1_Silent_p.S26S|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_5'UTR|RUVBL2_uc010yac.1_5'UTR	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	26					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|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)										0.391304	26.369212	26.607363	9	14	KEEP	---	---	---	---	capture		Silent	SNP	49506546	49506546	14233	19	C	G	G	G	275	22	RUVBL2	3	3
MYBPC2	4606	broad.mit.edu	37	19	50957559	50957559	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50957559G>T	uc002psf.2	+	c.1947G>T	c.(1945-1947)TCG>TCT	p.S649S		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)										0.454545	49.424564	49.483473	15	18	KEEP	---	---	---	---	capture		Silent	SNP	50957559	50957559	10407	19	G	T	T	T	496	39	MYBPC2	1	1
ZNF665	79788	broad.mit.edu	37	19	53669522	53669522	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53669522T>G	uc010eqm.1	-	c.221A>C	c.(220-222)AAG>ACG	p.K74T		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)										0.263158	72.299532	78.083205	30	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53669522	53669522	18668	19	T	G	G	G	728	56	ZNF665	4	4
PRKCG	5582	broad.mit.edu	37	19	54392933	54392933	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54392933C>A	uc010yeg.1	+	c.327C>A	c.(325-327)AGC>AGA	p.S109R	PRKCG_uc010eqz.1_Missense_Mutation_p.S109R|PRKCG_uc010yef.1_Missense_Mutation_p.S109R|PRKCG_uc002qcq.1_Missense_Mutation_p.S109R|PRKCG_uc010yeh.1_Intron	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	109	Phorbol-ester/DAG-type 2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|protein phosphorylation|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.S109R(1)		lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)						505				0.642857	58.057234	58.560939	18	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54392933	54392933	12955	19	C	A	A	A	324	25	PRKCG	2	2
LILRA1	11024	broad.mit.edu	37	19	55106169	55106169	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106169C>A	uc002qgh.1	+	c.110C>A	c.(109-111)TCT>TAT	p.S37Y	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.S37Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	37	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.361111	34.358562	34.972366	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55106169	55106169	9110	19	C	A	A	A	416	32	LILRA1	2	2
KIR2DL3	3804	broad.mit.edu	37	19	55250038	55250038	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55250038T>C	uc010erw.1	+	c.28T>C	c.(28-30)TGT>CGT	p.C10R	KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_Missense_Mutation_p.C10R|KIR2DL3_uc002qgy.2_Missense_Mutation_p.C10R|KIR2DL1_uc002qgz.1_5'Flank	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	10					immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)								OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.574074	87.8101	88.066026	31	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55250038	55250038	8629	19	T	C	C	C	767	59	KIR2DL3	4	4
NCR1	9437	broad.mit.edu	37	19	55420766	55420766	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55420766C>A	uc002qib.2	+	c.518C>A	c.(517-519)GCG>GAG	p.A173E	NCR1_uc002qic.2_Missense_Mutation_p.A173E|NCR1_uc002qie.2_Missense_Mutation_p.A173E|NCR1_uc002qid.2_Missense_Mutation_p.A78E|NCR1_uc002qif.2_Missense_Mutation_p.A78E|NCR1_uc010esj.2_Missense_Mutation_p.A66E	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	173	Extracellular (Potential).|Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)										0.45	85.19101	85.309033	27	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55420766	55420766	10636	19	C	A	A	A	351	27	NCR1	1	1
ZNF582	147948	broad.mit.edu	37	19	56896007	56896007	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56896007C>G	uc002qmy.2	-	c.872G>C	c.(871-873)TGT>TCT	p.C291S	ZNF582_uc002qmz.1_Missense_Mutation_p.C260S	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	260	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		Ovarian(183;1887 2032 4349 30507 51343)								0.388889	23.523122	23.717068	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56896007	56896007	18609	19	C	G	G	G	221	17	ZNF582	3	3
ZNF547	284306	broad.mit.edu	37	19	57889018	57889018	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57889018C>G	uc002qol.2	+	c.674C>G	c.(673-675)TCT>TGT	p.S225C	ZNF547_uc002qpm.3_Missense_Mutation_p.S151C|ZNF547_uc010ygx.1_Missense_Mutation_p.S225C	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	225	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.454545	146.759008	146.937633	45	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57889018	57889018	18574	19	C	G	G	G	416	32	ZNF547	3	3
MUC16	94025	broad.mit.edu	37	19	9065829	9065829	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9065829G>A	uc002mkp.2	-	c.21617C>T	c.(21616-21618)TCC>TTC	p.S7206F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7208	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.383234	188.259199	190.255855	64	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9065829	9065829	10367	19	G	A	A	A	533	41	MUC16	2	2
PRMT6	55170	broad.mit.edu	37	1	107599749	107599749	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107599749G>A	uc010ous.1	+	c.412G>A	c.(412-414)GGA>AGA	p.G138R		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	138					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)										0.204545	16.365036	19.921367	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107599749	107599749	12983	1	G	A	A	A	559	43	PRMT6	2	2
VAV3	10451	broad.mit.edu	37	1	108307794	108307794	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108307794C>A	uc010ouw.1	-	c.825G>T	c.(823-825)TTG>TTT	p.L275F	VAV3_uc001dvk.1_Missense_Mutation_p.L275F|VAV3_uc001dvl.1_Missense_Mutation_p.L99F|VAV3_uc010oux.1_Missense_Mutation_p.L275F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	275	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.12963	10.289532	17.497827	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108307794	108307794	17698	1	C	A	A	A	272	21	VAV3	2	2
AKNAD1	254268	broad.mit.edu	37	1	109394758	109394758	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109394758C>A	uc001dwa.2	-	c.529G>T	c.(529-531)GAT>TAT	p.D177Y	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	177										ovary(3)	3														0.134615	8.086185	14.831119	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109394758	109394758	467	1	C	A	A	A	390	30	AKNAD1	2	2
WDR47	22911	broad.mit.edu	37	1	109524461	109524461	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109524461C>A	uc001dwl.2	-	c.2316G>T	c.(2314-2316)TGG>TGT	p.W772C	WDR47_uc001dwi.2_Missense_Mutation_p.W765C|WDR47_uc001dwj.2_Missense_Mutation_p.W764C|WDR47_uc010ovf.1_Missense_Mutation_p.W689C	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 1	764	WD 4.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)										0.352381	101.351193	103.365538	37	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109524461	109524461	17873	1	C	A	A	A	390	30	WDR47	2	2
GPR61	83873	broad.mit.edu	37	1	110086427	110086427	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110086427C>A	uc001dxy.2	+	c.783C>A	c.(781-783)AGC>AGA	p.S261R		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	261	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)										0.833333	32.757034	34.020969	10	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110086427	110086427	6977	1	C	A	A	A	337	26	GPR61	2	2
EPS8L3	79574	broad.mit.edu	37	1	110294630	110294630	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110294630C>T	uc001dyq.1	-	c.1424G>A	c.(1423-1425)GGA>GAA	p.G475E	EPS8L3_uc001dys.1_Missense_Mutation_p.G444E|EPS8L3_uc001dyr.1_Missense_Mutation_p.G474E|EPS8L3_uc009wfm.1_Missense_Mutation_p.G411E|EPS8L3_uc009wfn.1_Missense_Mutation_p.G419E	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	474	SH3.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)										0.076923	-0.061348	11.834489	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110294630	110294630	5390	1	C	T	T	T	390	30	EPS8L3	2	2
KCNA10	3744	broad.mit.edu	37	1	111060823	111060823	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111060823T>C	uc001dzt.1	-	c.587A>G	c.(586-588)AAT>AGT	p.N196S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	196						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)										0.3125	45.209059	46.710425	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111060823	111060823	8307	1	T	C	C	C	676	52	KCNA10	4	4
CHIA	27159	broad.mit.edu	37	1	111861779	111861779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111861779G>A	uc001eas.2	+	c.953G>A	c.(952-954)TGG>TAG	p.W318*	CHIA_uc001ear.2_Nonsense_Mutation_p.W210*|CHIA_uc001eaq.2_Nonsense_Mutation_p.W210*|CHIA_uc009wgc.2_Nonsense_Mutation_p.W210*|CHIA_uc001eat.2_Nonsense_Mutation_p.W157*|CHIA_uc001eav.2_Nonsense_Mutation_p.W157*|CHIA_uc001eau.2_Nonsense_Mutation_p.W157*|CHIA_uc009wgd.2_Nonsense_Mutation_p.W157*	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	318					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)										0.319444	63.301049	65.386033	23	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111861779	111861779	3476	1	G	A	A	A	611	47	CHIA	5	2
DENND2C	163259	broad.mit.edu	37	1	115144127	115144127	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115144127A>T	uc001efd.1	-	c.1815_splice	c.e13+1	p.K605_splice	DENND2C_uc001eez.2_Splice_Site_SNP|DENND2C_uc001efc.1_Splice_Site_SNP_p.K548_splice	NM_198459	NP_940861			DENN/MADD domain containing 2C												0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.351792	317.221407	323.162237	108	199	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	115144127	115144127	4609	1	A	T	T	T	78	6	DENND2C	5	3
FAM46C	54855	broad.mit.edu	37	1	118166264	118166264	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118166264A>T	uc001ehe.2	+	c.774A>T	c.(772-774)ACA>ACT	p.T258T		NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	hypothetical protein LOC54855	258											0	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)							Multiple Myeloma(3;1.13e-06)			0.324324	71.876899	73.902453	24	50	KEEP	---	---	---	---	capture		Silent	SNP	118166264	118166264	5788	1	A	T	T	T	80	7	FAM46C	3	3
SPAG17	200162	broad.mit.edu	37	1	118550775	118550775	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118550775T>C	uc001ehk.2	-	c.4479A>G	c.(4477-4479)GTA>GTG	p.V1493V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1493						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.285714	31.672197	33.411166	12	30	KEEP	---	---	---	---	capture		Silent	SNP	118550775	118550775	15482	1	T	C	C	C	678	53	SPAG17	4	4
PDE4DIP	9659	broad.mit.edu	37	1	144912277	144912277	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144912277C>A	uc001elw.3	-	c.1998G>T	c.(1996-1998)TTG>TTT	p.L666F	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_Missense_Mutation_p.L732F|PDE4DIP_uc001emc.1_Missense_Mutation_p.L666F|PDE4DIP_uc001emd.1_Missense_Mutation_p.L666F|PDE4DIP_uc001emb.1_Missense_Mutation_p.L829F|PDE4DIP_uc001eme.1_Missense_Mutation_p.L195F|PDE4DIP_uc001emf.1_Missense_Mutation_p.L451F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	666	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.155172	16.940755	23.525917	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144912277	144912277	12064	1	C	A	A	A	272	21	PDE4DIP	2	2
SNX27	81609	broad.mit.edu	37	1	151638447	151638447	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151638447G>C	uc001eyn.1	+	c.945G>C	c.(943-945)GTG>GTC	p.V315V	SNX27_uc001eyo.2_Silent_p.V222V|SNX27_uc001eyp.2_Silent_p.V129V	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	sorting nexin family member 27	315	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			ovary(2)|central_nervous_system(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			Colon(46;291 966 40145 41237 41888)								0.25	36.461625	39.407865	13	39	KEEP	---	---	---	---	capture		Silent	SNP	151638447	151638447	15397	1	G	C	C	C	574	45	SNX27	3	3
RORC	6097	broad.mit.edu	37	1	151779972	151779972	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151779972C>A	uc010pdo.1	-	c.1695G>T	c.(1693-1695)GAG>GAT	p.E565D	RORC_uc001ezg.2_Missense_Mutation_p.E490D|RORC_uc001ezh.2_Missense_Mutation_p.E511D|RORC_uc010pdp.1_Missense_Mutation_p.E499D|LINGO4_uc001ezf.1_5'Flank	NM_001001523	NP_001001523	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform b	511	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.203125	30.84667	36.078201	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151779972	151779972	14009	1	C	A	A	A	259	20	RORC	2	2
LCE1E	353135	broad.mit.edu	37	1	152760043	152760043	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152760043C>G	uc001fan.2	+	c.268C>G	c.(268-270)CCC>GCC	p.P90A		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	90	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.333333	17.847327	18.288477	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152760043	152760043	8986	1	C	G	G	G	234	18	LCE1E	3	3
CREB3L4	148327	broad.mit.edu	37	1	153941652	153941652	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153941652G>T	uc001fdn.3	+	c.421G>T	c.(421-423)GAT>TAT	p.D141Y	SLC39A1_uc001fdl.2_5'Flank|CREB3L4_uc010pef.1_Intron|CREB3L4_uc001fdo.3_Missense_Mutation_p.D121Y|CREB3L4_uc001fdm.1_Missense_Mutation_p.D141Y|CREB3L4_uc001fdp.1_Missense_Mutation_p.D121Y|CREB3L4_uc010peg.1_Missense_Mutation_p.G141C|CREB3L4_uc001fdr.2_Missense_Mutation_p.D141Y|CREB3L4_uc001fdq.2_Missense_Mutation_p.D121Y	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	141	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.275862	82.946117	88.195628	32	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153941652	153941652	3998	1	G	T	T	T	455	35	CREB3L4	2	2
CLK2	1196	broad.mit.edu	37	1	155233108	155233108	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155233108C>A	uc001fjy.2	-	c.1401G>T	c.(1399-1401)CGG>CGT	p.R467R	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Silent_p.R466R|CLK2_uc001fjx.2_Silent_p.R239R|CLK2_uc009wqm.2_Silent_p.R467R	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	467	Protein kinase.				protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)							135				0.38	49.744288	50.36322	19	31	KEEP	---	---	---	---	capture		Silent	SNP	155233108	155233108	3675	1	C	A	A	A	327	26	CLK2	2	2
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157494130G>C	uc001fqu.2	-	c.2178C>G	c.(2176-2178)TCC>TCG	p.S726S	FCRL5_uc009wsm.2_Silent_p.S726S|FCRL5_uc010phv.1_Silent_p.S726S|FCRL5_uc010phw.1_Silent_p.S641S	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	726	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.230769	30.991584	34.432679	12	40	KEEP	---	---	---	---	capture		Silent	SNP	157494130	157494130	6035	1	G	C	C	C	444	35	FCRL5	3	3
FCRL5	83416	broad.mit.edu	37	1	157512753	157512753	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157512753G>T	uc001fqu.2	-	c.1019C>A	c.(1018-1020)TCC>TAC	p.S340Y	FCRL5_uc009wsm.2_Missense_Mutation_p.S340Y|FCRL5_uc010phv.1_Missense_Mutation_p.S340Y|FCRL5_uc010phw.1_Missense_Mutation_p.S255Y|FCRL5_uc001fqv.1_Missense_Mutation_p.S340Y|FCRL5_uc010phx.1_Missense_Mutation_p.S91Y	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	340	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.18	32.211044	41.836385	18	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157512753	157512753	6035	1	G	T	T	T	533	41	FCRL5	2	2
PYHIN1	149628	broad.mit.edu	37	1	158914669	158914669	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158914669A>T	uc001ftb.2	+	c.1196A>T	c.(1195-1197)CAG>CTG	p.Q399L	PYHIN1_uc001ftc.2_Missense_Mutation_p.Q390L|PYHIN1_uc001ftd.2_Missense_Mutation_p.Q399L|PYHIN1_uc001fte.2_Missense_Mutation_p.Q390L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	399	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.424242	45.245323	45.410349	14	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158914669	158914669	13323	1	A	T	T	T	91	7	PYHIN1	3	3
HSPA6	3310	broad.mit.edu	37	1	161495421	161495421	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161495421G>C	uc001gap.2	+	c.973G>C	c.(973-975)GAT>CAT	p.D325H	HSPA6_uc001gaq.2_Missense_Mutation_p.D325H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	325					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.176471	5.739827	7.397995	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161495421	161495421	7714	1	G	C	C	C	533	41	HSPA6	3	3
LRRC52	440699	broad.mit.edu	37	1	165532869	165532869	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165532869C>A	uc001gde.2	+	c.750C>A	c.(748-750)CTC>CTA	p.L250L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	250	Helical; (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)													0.230769	12.323577	14.065241	6	20	KEEP	---	---	---	---	capture		Silent	SNP	165532869	165532869	9385	1	C	A	A	A	366	29	LRRC52	2	2
F5	2153	broad.mit.edu	37	1	169525952	169525952	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169525952G>T	uc001ggg.1	-	c.884C>A	c.(883-885)ACC>AAC	p.T295N	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	295	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.341463	41.737843	42.648336	14	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169525952	169525952	5542	1	G	T	T	T	572	44	F5	2	2
CACNA1E	777	broad.mit.edu	37	1	181549889	181549889	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181549889G>T	uc001gow.2	+	c.928G>T	c.(928-930)GGG>TGG	p.G310W	CACNA1E_uc009wxr.2_Missense_Mutation_p.G217W|CACNA1E_uc009wxs.2_Missense_Mutation_p.G217W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	310	I.|Extracellular (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.193182	36.989319	44.672833	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181549889	181549889	2658	1	G	T	T	T	455	35	CACNA1E	2	2
CACNA1E	777	broad.mit.edu	37	1	181702006	181702006	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702006A>T	uc001gow.2	+	c.2784A>T	c.(2782-2784)ACA>ACT	p.T928T	CACNA1E_uc009wxs.2_Silent_p.T816T|CACNA1E_uc001gox.1_Silent_p.T154T|CACNA1E_uc009wxt.2_Silent_p.T154T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	928	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.298701	65.59987	68.386333	23	54	KEEP	---	---	---	---	capture		Silent	SNP	181702006	181702006	2658	1	A	T	T	T	80	7	CACNA1E	3	3
C1orf14	81626	broad.mit.edu	37	1	182908311	182908311	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182908311C>A	uc001gpu.2	-	c.1076G>T	c.(1075-1077)CGA>CTA	p.R359L	C1orf14_uc001gpv.2_Missense_Mutation_p.R240L|C1orf14_uc010pnz.1_Missense_Mutation_p.R217L|C1orf14_uc001gpw.2_Missense_Mutation_p.R79L	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	431											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)										0.375	45.318078	45.865562	15	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182908311	182908311	2067	1	C	A	A	A	299	23	C1orf14	1	1
HMCN1	83872	broad.mit.edu	37	1	186036967	186036967	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186036967A>G	uc001grq.1	+	c.7707A>G	c.(7705-7707)GTA>GTG	p.V2569V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2569					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.333333	51.286021	52.465841	16	32	KEEP	---	---	---	---	capture		Silent	SNP	186036967	186036967	7511	1	A	G	G	G	197	16	HMCN1	4	4
HMCN1	83872	broad.mit.edu	37	1	186082028	186082028	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186082028T>C	uc001grq.1	+	c.11074T>C	c.(11074-11076)TGT>CGT	p.C3692R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3692	Ig-like C2-type 35.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.25	38.537075	42.205048	16	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186082028	186082028	7511	1	T	C	C	C	715	55	HMCN1	4	4
PRG4	10216	broad.mit.edu	37	1	186270774	186270774	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186270774T>A	uc001gru.3	+	c.250T>A	c.(250-252)TGT>AGT	p.C84S	PRG4_uc001grt.3_Missense_Mutation_p.C43S|PRG4_uc009wyl.2_Missense_Mutation_p.C84S|PRG4_uc009wym.2_Missense_Mutation_p.C43S|PRG4_uc010poo.1_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	84	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity				0														0.222222	15.77903	18.340194	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186270774	186270774	12924	1	T	A	A	A	767	59	PRG4	3	3
TAS1R2	80834	broad.mit.edu	37	1	19183910	19183910	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19183910G>T	uc001bba.1	-	c.398C>A	c.(397-399)TCC>TAC	p.S133Y		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	133	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)									0.282609	30.495214	32.425407	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19183910	19183910	16085	1	G	T	T	T	533	41	TAS1R2	2	2
CFHR1	3078	broad.mit.edu	37	1	196795979	196795979	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196795979G>T	uc001gtn.2	+	c.274G>T	c.(274-276)GTG>TTG	p.V92L	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	92	Sushi 2.				complement activation	extracellular space					0														0.5	53.478152	53.478152	17	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196795979	196795979	3417	1	G	T	T	T	624	48	CFHR1	2	2
CRB1	23418	broad.mit.edu	37	1	197404272	197404272	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404272G>T	uc001gtz.2	+	c.3279G>T	c.(3277-3279)CTG>CTT	p.L1093L	CRB1_uc010poz.1_Silent_p.L1069L|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Silent_p.L981L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.L574L|CRB1_uc001gub.1_Silent_p.L742L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1093	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.236364	32.947174	36.44154	13	42	KEEP	---	---	---	---	capture		Silent	SNP	197404272	197404272	3987	1	G	T	T	T	587	46	CRB1	2	2
KLHL12	59349	broad.mit.edu	37	1	202888887	202888887	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202888887C>A	uc010pqc.1	-	c.459G>T	c.(457-459)TTG>TTT	p.L153F	KLHL12_uc001gyn.1_5'Flank|KLHL12_uc001gyo.1_Missense_Mutation_p.L115F|KLHL12_uc009xah.1_Missense_Mutation_p.L115F	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	115					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.36	23.967675	24.399181	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202888887	202888887	8680	1	C	A	A	A	376	29	KLHL12	2	2
NUCKS1	64710	broad.mit.edu	37	1	205696904	205696904	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205696904G>C	uc001hdb.2	-	c.97C>G	c.(97-99)CCC>GCC	p.P33A		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	33						nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)											0.307692	33.17388	34.466804	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205696904	205696904	11125	1	G	C	C	C	533	41	NUCKS1	3	3
SLC41A1	254428	broad.mit.edu	37	1	205764004	205764004	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205764004C>T	uc001hdh.1	-	c.1350G>A	c.(1348-1350)CTG>CTA	p.L450L	SLC41A1_uc001hdg.1_Silent_p.L71L	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	450	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity				0	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)											0.32	20.389995	21.110338	8	17	KEEP	---	---	---	---	capture		Silent	SNP	205764004	205764004	15126	1	C	T	T	T	314	25	SLC41A1	2	2
FCAMR	83953	broad.mit.edu	37	1	207135631	207135631	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207135631G>T	uc001hfa.3	-	c.579C>A	c.(577-579)ATC>ATA	p.I193I	FCAMR_uc001hfb.2_Silent_p.I193I|FCAMR_uc009xca.1_Silent_p.I193I|FCAMR_uc001hfc.2_Silent_p.I168I	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity isoform 2	148	Extracellular (Potential).|Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						Ovarian(199;1883 2142 16966 44409 45154)								0.243243	22.759753	24.981031	9	28	KEEP	---	---	---	---	capture		Silent	SNP	207135631	207135631	6009	1	G	T	T	T	473	37	FCAMR	1	1
C1orf74	148304	broad.mit.edu	37	1	209956795	209956795	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209956795C>T	uc001hhp.1	-	c.185G>A	c.(184-186)GGG>GAG	p.G62E		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	62											0				OV - Ovarian serous cystadenocarcinoma(81;0.0328)										0.245902	39.661979	43.204255	15	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209956795	209956795	2134	1	C	T	T	T	286	22	C1orf74	2	2
USH2A	7399	broad.mit.edu	37	1	215901465	215901465	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215901465G>T	uc001hku.1	-	c.11973C>A	c.(11971-11973)CCC>CCA	p.P3991P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3991	Fibronectin type-III 25.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.232759	62.516589	70.089034	27	89	KEEP	---	---	---	---	capture		Silent	SNP	215901465	215901465	17598	1	G	T	T	T	600	47	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216262456	216262456	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216262456G>A	uc001hku.1	-	c.4784C>T	c.(4783-4785)ACT>ATT	p.T1595I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1595	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.211009	53.73332	62.103711	23	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216262456	216262456	17598	1	G	A	A	A	468	36	USH2A	2	2
AGT	183	broad.mit.edu	37	1	230846067	230846067	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230846067G>T	uc001hty.3	-	c.530C>A	c.(529-531)GCG>GAG	p.A177E	AGT_uc009xfe.2_Missense_Mutation_p.A177E|AGT_uc009xff.2_Missense_Mutation_p.A149E	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|oxygen and reactive oxygen species metabolic process|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|regulation of natriuresis|regulation of proteolysis|regulation of renal output by angiotensin|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)									0.272727	16.948234	17.967455	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230846067	230846067	402	1	G	T	T	T	494	38	AGT	1	1
SIPA1L2	57568	broad.mit.edu	37	1	232650142	232650142	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232650142C>A	uc001hvg.2	-	c.944G>T	c.(943-945)CGA>CTA	p.R315L		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	315					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.341463	77.574178	79.395807	28	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232650142	232650142	14825	1	C	A	A	A	403	31	SIPA1L2	1	1
TOMM20	9804	broad.mit.edu	37	1	235277206	235277206	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235277206T>C	uc001hwl.2	-	c.270A>G	c.(268-270)GTA>GTG	p.V90V	TOMM20_uc009xfx.1_Intron	NM_014765	NP_055580	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20	90	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding				0	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)											0.265306	37.058911	39.493938	13	36	KEEP	---	---	---	---	capture		Silent	SNP	235277206	235277206	16895	1	T	C	C	C	678	53	TOMM20	4	4
LYST	1130	broad.mit.edu	37	1	235972212	235972212	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235972212C>G	uc001hxj.2	-	c.1906G>C	c.(1906-1908)GCT>CCT	p.A636P	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.A636P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	636					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.216216	20.641781	23.346512	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235972212	235972212	9505	1	C	G	G	G	364	28	LYST	3	3
NID1	4811	broad.mit.edu	37	1	236193008	236193008	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236193008T>G	uc001hxo.2	-	c.1580A>C	c.(1579-1581)CAC>CCC	p.H527P	NID1_uc009xgd.2_Missense_Mutation_p.H527P	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	527	Nidogen G2 beta-barrel.				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.1875	5.925034	7.381888	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236193008	236193008	10815	1	T	G	G	G	767	59	NID1	4	4
ACTN2	88	broad.mit.edu	37	1	236914888	236914888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236914888G>T	uc001hyf.2	+	c.1775G>T	c.(1774-1776)AGA>ATA	p.R592I	ACTN2_uc001hyg.2_Missense_Mutation_p.R384I|ACTN2_uc009xgi.1_Missense_Mutation_p.R592I|ACTN2_uc010pxu.1_Missense_Mutation_p.R281I|ACTN2_uc001hyh.2_Missense_Mutation_p.R280I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	592	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.269231	32.104059	34.622831	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236914888	236914888	206	1	G	T	T	T	429	33	ACTN2	2	2
RYR2	6262	broad.mit.edu	37	1	237604629	237604629	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237604629A>T	uc001hyl.1	+	c.1016A>T	c.(1015-1017)GAT>GTT	p.D339V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	339	Cytoplasmic (By similarity).|MIR 4.				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|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)											0.263636	70.807609	76.386319	29	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237604629	237604629	14249	1	A	T	T	T	156	12	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237617851	237617851	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237617851C>A	uc001hyl.1	+	c.1453C>A	c.(1453-1455)CGG>AGG	p.R485R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	485	Cytoplasmic (By similarity).				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|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)											0.434783	96.24514	96.499825	30	39	KEEP	---	---	---	---	capture		Silent	SNP	237617851	237617851	14249	1	C	A	A	A	399	31	RYR2	1	1
RYR2	6262	broad.mit.edu	37	1	237620013	237620013	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237620013G>T	uc001hyl.1	+	c.1590G>T	c.(1588-1590)CTG>CTT	p.L530L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	530	Cytoplasmic (By similarity).				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|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)											0.271186	79.246697	84.819839	32	86	KEEP	---	---	---	---	capture		Silent	SNP	237620013	237620013	14249	1	G	T	T	T	574	45	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237670056	237670056	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237670056A>T	uc001hyl.1	+	c.2660A>T	c.(2659-2661)GAG>GTG	p.E887V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	887	Cytoplasmic (By similarity).|1.|4 X approximate repeats.				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|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)											0.27027	25.836956	27.596521	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237670056	237670056	14249	1	A	T	T	T	143	11	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237995920	237995920	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237995920G>T	uc001hyl.1	+	c.14877G>T	c.(14875-14877)CGG>CGT	p.R4959R	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4959			R -> Q (in CPVT1).		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|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)											0.214286	25.668533	29.89115	12	44	KEEP	---	---	---	---	capture		Silent	SNP	237995920	237995920	14249	1	G	T	T	T	522	41	RYR2	2	2
ZP4	57829	broad.mit.edu	37	1	238050785	238050785	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238050785C>A	uc001hym.2	-	c.630G>T	c.(628-630)TTG>TTT	p.L210F	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	210	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.283784	57.643942	60.750367	21	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238050785	238050785	18822	1	C	A	A	A	272	21	ZP4	2	2
ZP4	57829	broad.mit.edu	37	1	238053214	238053214	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238053214T>A	uc001hym.2	-	c.353A>T	c.(352-354)AAG>ATG	p.K118M	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	118	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.252577	112.242032	123.067938	49	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238053214	238053214	18822	1	T	A	A	A	728	56	ZP4	3	3
CHRM3	1131	broad.mit.edu	37	1	240070931	240070931	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240070931G>A	uc001hyp.2	+	c.180G>A	c.(178-180)CTG>CTA	p.L60L		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	60	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.222222	14.665899	16.56088	6	21	KEEP	---	---	---	---	capture		Silent	SNP	240070931	240070931	3512	1	G	A	A	A	600	47	CHRM3	2	2
CHRM3	1131	broad.mit.edu	37	1	240072267	240072267	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240072267C>G	uc001hyp.2	+	c.1516C>G	c.(1516-1518)CCA>GCA	p.P506A		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	506	Helical; Name=6; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.169231	21.976836	28.635929	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240072267	240072267	3512	1	C	G	G	G	286	22	CHRM3	3	3
FMN2	56776	broad.mit.edu	37	1	240370180	240370180	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240370180A>G	uc010pye.1	+	c.2080A>G	c.(2080-2082)ATA>GTA	p.I694V	FMN2_uc010pyd.1_Missense_Mutation_p.I690V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	690	Potential.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.263158	14.767618	15.730586	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240370180	240370180	6192	1	A	G	G	G	52	4	FMN2	4	4
CEP170	9859	broad.mit.edu	37	1	243336059	243336059	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243336059A>G	uc001hzs.2	-	c.1656T>C	c.(1654-1656)TCT>TCC	p.S552S	CEP170_uc001hzt.2_Silent_p.S454S|CEP170_uc001hzu.2_Silent_p.S454S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	552						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)											0.3	8.02078	8.378354	3	7	KEEP	---	---	---	---	capture		Silent	SNP	243336059	243336059	3383	1	A	G	G	G	80	7	CEP170	4	4
AHCTF1	25909	broad.mit.edu	37	1	247063772	247063773	+	Splice_Site_DNP	DNP	CT	AA	AA			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247063772_247063773CT>AA	uc001ibv.1	-	c.1145_splice	c.e9-1	p.A382_splice	AHCTF1_uc001ibu.1_Splice_Site_DNP_p.A373_splice|AHCTF1_uc009xgs.1_5'Flank	NM_015446	NP_056261			transcription factor ELYS						cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			Colon(145;197 1800 4745 15099 26333)								0.341463	41.038646	41.948746	14	27	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	247063772	247063773	411	1	CT	AA	AA	AA	364	28	AHCTF1	5	2
ZNF496	84838	broad.mit.edu	37	1	247473695	247473695	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247473695C>A	uc009xgv.2	-	c.823G>T	c.(823-825)GAT>TAT	p.D275Y	ZNF496_uc001ico.2_Missense_Mutation_p.D239Y|ZNF496_uc001icp.2_Missense_Mutation_p.D239Y|ZNF496_uc001icq.1_Missense_Mutation_p.D14Y|ZNF496_uc010pyv.1_Missense_Mutation_p.D239Y	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	239	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)											0.2	21.640585	25.811991	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247473695	247473695	18539	1	C	A	A	A	416	32	ZNF496	2	2
NLRP3	114548	broad.mit.edu	37	1	247588619	247588619	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247588619C>A	uc001icr.2	+	c.1874C>A	c.(1873-1875)CCC>CAC	p.P625H	NLRP3_uc001ics.2_Missense_Mutation_p.P625H|NLRP3_uc001icu.2_Missense_Mutation_p.P625H|NLRP3_uc001icw.2_Missense_Mutation_p.P625H|NLRP3_uc001icv.2_Missense_Mutation_p.P625H|NLRP3_uc010pyw.1_Missense_Mutation_p.P623H|NLRP3_uc001ict.1_Missense_Mutation_p.P623H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	625					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.275862	18.292	19.60279	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247588619	247588619	10881	1	C	A	A	A	286	22	NLRP3	2	2
OR2W5	441932	broad.mit.edu	37	1	247654783	247654783	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247654783G>T	uc001icz.1	+	c.354G>T	c.(352-354)ATG>ATT	p.M118I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.296296	42.975142	44.981963	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247654783	247654783	11440	1	G	T	T	T	624	48	OR2W5	2	2
OR2M3	127062	broad.mit.edu	37	1	248366457	248366457	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248366457C>G	uc010pzg.1	+	c.88C>G	c.(88-90)CTG>GTG	p.L30V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.298013	123.080075	128.611837	45	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248366457	248366457	11417	1	C	G	G	G	415	32	OR2M3	3	3
OR2T2	401992	broad.mit.edu	37	1	248616444	248616444	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248616444C>A	uc001iek.1	+	c.346C>A	c.(346-348)CTG>ATG	p.L116M		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.061224	-6.92586	12.766517	6	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248616444	248616444	11426	1	C	A	A	A	363	28	OR2T2	2	2
OR2T3	343173	broad.mit.edu	37	1	248637470	248637472	+	Missense	Complex_substitution	TNA	ANG	ANG			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637470T>A	uc001iel.1	+	c.819T>A	c.(817-819)GCT>GCA	p.A273A		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	273	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.135831	91.134367	145.947947	58	369	KEEP	---	---	---	---	capture		Missense	Complex_substitution	248637470	248637472	11429	1	TNA	ANG	ANG	A	704	55	OR2T3	5	5
OR2T11	127077	broad.mit.edu	37	1	248789889	248789889	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789889C>A	uc001ier.1	-	c.541G>T	c.(541-543)GTT>TTT	p.V181F		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.347222	66.587125	68.100668	25	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248789889	248789889	11424	1	C	A	A	A	260	20	OR2T11	2	2
PTPRU	10076	broad.mit.edu	37	1	29605971	29605971	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29605971A>T	uc001bru.2	+	c.1567A>T	c.(1567-1569)AGC>TGC	p.S523C	PTPRU_uc001brv.2_Missense_Mutation_p.S523C|PTPRU_uc001brw.2_Missense_Mutation_p.S523C|PTPRU_uc009vtq.2_Missense_Mutation_p.S523C|PTPRU_uc009vtr.2_Missense_Mutation_p.S523C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	523	Extracellular (Potential).|Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)						874				0.121212	6.080643	10.716943	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29605971	29605971	13271	1	A	T	T	T	91	7	PTPRU	3	3
HCRTR1	3061	broad.mit.edu	37	1	32085306	32085306	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32085306C>A	uc009vtx.2	+	c.373C>A	c.(373-375)CTA>ATA	p.L125I	HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.L125I|HCRTR1_uc010ogl.1_Missense_Mutation_p.L125I	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	125	Helical; Name=3; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)										0.363636	22.994785	23.354373	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32085306	32085306	7284	1	C	A	A	A	415	32	HCRTR1	2	2
CSMD2	114784	broad.mit.edu	37	1	34174809	34174809	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34174809G>T	uc001bxm.1	-	c.3456C>A	c.(3454-3456)CCC>CCA	p.P1152P	CSMD2_uc001bxn.1_Silent_p.P1112P|CSMD2_uc001bxo.1_Silent_p.P25P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1112	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.133333	6.378779	10.293584	4	26	KEEP	---	---	---	---	capture		Silent	SNP	34174809	34174809	4086	1	G	T	T	T	600	47	CSMD2	2	2
CSMD2	114784	broad.mit.edu	37	1	34190165	34190165	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34190165C>A	uc001bxm.1	-	c.2836G>T	c.(2836-2838)GAG>TAG	p.E946*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.E906*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	906	Sushi 5.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.454545	26.844042	26.883928	10	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34190165	34190165	4086	1	C	A	A	A	390	30	CSMD2	5	2
EPHA10	284656	broad.mit.edu	37	1	38227235	38227235	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38227235G>T	uc009vvi.2	-	c.692C>A	c.(691-693)TCC>TAC	p.S231Y	EPHA10_uc001cbw.3_Missense_Mutation_p.S231Y	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	231	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.428571	7.92285	7.954168	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38227235	38227235	5359	1	G	T	T	T	533	41	EPHA10	2	2
KIAA0754	643314	broad.mit.edu	37	1	39877491	39877491	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39877491A>T	uc009vvt.1	+	c.1554A>T	c.(1552-1554)GAA>GAT	p.E518D	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	382											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)											0.090909	0.732222	10.01696	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39877491	39877491	8499	1	A	T	T	T	24	2	KIAA0754	3	3
MYCL1	4610	broad.mit.edu	37	1	40363231	40363231	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40363231G>C	uc001cer.1	-	c.908C>G	c.(907-909)GCG>GGG	p.A303G	MYCL1_uc001ces.1_Missense_Mutation_p.A303G	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	l-myc-1 proto-oncogene isoform 1	303	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			lung(1)|liver(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)						p.A303V(SHP77-Tumor)	45				0.315789	17.544631	18.117305	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40363231	40363231	10415	1	G	C	C	C	494	38	MYCL1	3	3
RIMS3	9783	broad.mit.edu	37	1	41107561	41107561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41107561C>A	uc001cfu.1	-	c.37G>T	c.(37-39)GCC>TCC	p.A13S	RIMS3_uc001cfv.1_Missense_Mutation_p.A13S	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	13					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)											0.125	3.920187	8.28792	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41107561	41107561	13846	1	C	A	A	A	338	26	RIMS3	2	2
WDR65	149465	broad.mit.edu	37	1	43649515	43649515	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43649515C>A	uc001cip.1	+	c.728C>A	c.(727-729)TCA>TAA	p.S243*	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Nonsense_Mutation_p.S232*|WDR65_uc001ciq.1_Nonsense_Mutation_p.S243*	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	243											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.2	76.917933	91.972713	36	144	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43649515	43649515	17889	1	C	A	A	A	377	29	WDR65	5	2
MED8	112950	broad.mit.edu	37	1	43853255	43853255	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43853255C>G	uc001cje.1	-	c.189G>C	c.(187-189)TTG>TTC	p.L63F	MED8_uc001cjg.3_Missense_Mutation_p.L63F|MED8_uc001cjf.3_5'UTR|C1orf84_uc001cjh.2_5'Flank|C1orf84_uc001cji.1_5'Flank|KIAA0467_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	mediator complex subunit 8 isoform 3	63					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.344538	258.432994	263.487227	82	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43853255	43853255	9842	1	C	G	G	G	376	29	MED8	3	3
PRDX1	5052	broad.mit.edu	37	1	45981386	45981386	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45981386T>C	uc001cnz.2	-	c.200A>G	c.(199-201)AAG>AGG	p.K67R	PRDX1_uc001coa.2_Missense_Mutation_p.K67R|PRDX1_uc001cob.2_Missense_Mutation_p.K67R|PRDX1_uc001coc.2_Missense_Mutation_p.K67R	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	67	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|oxidation-reduction process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)													0.1875	29.560571	35.414415	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45981386	45981386	12907	1	T	C	C	C	728	56	PRDX1	4	4
ZFYVE9	9372	broad.mit.edu	37	1	52704447	52704447	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52704447G>A	uc001cto.2	+	c.1358G>A	c.(1357-1359)TGC>TAC	p.C453Y	ZFYVE9_uc001ctn.2_Missense_Mutation_p.C453Y|ZFYVE9_uc001ctp.2_Missense_Mutation_p.C453Y	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	453					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.207792	34.15616	40.248589	16	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52704447	52704447	18261	1	G	A	A	A	598	46	ZFYVE9	2	2
DNAJC6	9829	broad.mit.edu	37	1	65845187	65845187	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65845187G>A	uc001dce.1	+	c.646G>A	c.(646-648)GTC>ATC	p.V216I	DNAJC6_uc001dcc.1_Missense_Mutation_p.V190I|DNAJC6_uc001dcd.1_Missense_Mutation_p.V159I|DNAJC6_uc010opc.1_Missense_Mutation_p.V146I	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	159	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.443182	109.911828	110.157471	39	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65845187	65845187	4836	1	G	A	A	A	624	48	DNAJC6	2	2
RPE65	6121	broad.mit.edu	37	1	68895600	68895600	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68895600C>T	uc001dei.1	-	c.1461G>A	c.(1459-1461)CTG>CTA	p.L487L		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	487					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1														0.342857	31.68691	32.451606	12	23	KEEP	---	---	---	---	capture		Silent	SNP	68895600	68895600	14024	1	C	T	T	T	366	29	RPE65	2	2
RPE65	6121	broad.mit.edu	37	1	68895602	68895602	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68895602G>T	uc001dei.1	-	c.1459C>A	c.(1459-1461)CTG>ATG	p.L487M		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	487					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1														0.333333	27.71052	28.524082	11	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68895602	68895602	14024	1	G	T	T	T	425	33	RPE65	2	2
LRRIQ3	127255	broad.mit.edu	37	1	74506933	74506933	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74506933T>C	uc001dfy.3	-	c.1682A>G	c.(1681-1683)TAT>TGT	p.Y561C	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	561	Potential.									ovary(2)	2										2				0.402439	104.06502	104.74519	33	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74506933	74506933	9406	1	T	C	C	C	637	49	LRRIQ3	4	4
C1orf173	127254	broad.mit.edu	37	1	75037337	75037337	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037337C>T	uc001dgg.2	-	c.4057G>A	c.(4057-4059)GCC>ACC	p.A1353T		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1353	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.217822	49.593821	57.010913	22	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75037337	75037337	2081	1	C	T	T	T	364	28	C1orf173	2	2
C1orf173	127254	broad.mit.edu	37	1	75055654	75055654	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75055654C>G	uc001dgg.2	-	c.1837G>C	c.(1837-1839)GAA>CAA	p.E613Q	C1orf173_uc001dgi.3_Missense_Mutation_p.E407Q	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	613	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.186047	16.624604	20.676808	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75055654	75055654	2081	1	C	G	G	G	377	29	C1orf173	3	3
LPHN2	23266	broad.mit.edu	37	1	82416074	82416074	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82416074G>A	uc001dit.3	+	c.1400G>A	c.(1399-1401)AGA>AAA	p.R467K	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.R467K|LPHN2_uc001div.2_Missense_Mutation_p.R467K|LPHN2_uc009wcd.2_Missense_Mutation_p.R467K|LPHN2_uc001diw.2_Missense_Mutation_p.R38K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	467	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.275	29.807092	31.631302	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82416074	82416074	9289	1	G	A	A	A	429	33	LPHN2	2	2
SLC45A1	50651	broad.mit.edu	37	1	8398030	8398030	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8398030C>T	uc001apb.2	+	c.1752C>T	c.(1750-1752)GCC>GCT	p.A584A	SLC45A1_uc001apc.2_Silent_p.A282A	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	584	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)	3	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)										0.217391	11.974617	13.659809	5	18	KEEP	---	---	---	---	capture		Silent	SNP	8398030	8398030	15137	1	C	T	T	T	301	24	SLC45A1	2	2
ODF2L	57489	broad.mit.edu	37	1	86826108	86826108	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86826108C>A	uc001dln.2	-	c.1167_splice	c.e11+1	p.Q389_splice	ODF2L_uc001dll.1_Splice_Site_SNP_p.Q418_splice|ODF2L_uc001dlm.1_Splice_Site_SNP_p.Q389_splice|ODF2L_uc001dlo.2_Splice_Site_SNP_p.Q258_splice|ODF2L_uc001dlp.2_Splice_Site_SNP_p.Q418_splice|ODF2L_uc010osg.1_Splice_Site_SNP_p.Q389_splice|ODF2L_uc001dlq.1_Splice_Site_SNP_p.Q219_splice	NM_020729	NP_065780			outer dense fiber of sperm tails 2-like isoform											ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)										0.333333	14.469872	14.838945	5	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	86826108	86826108	11233	1	C	A	A	A	234	18	ODF2L	5	2
HFM1	164045	broad.mit.edu	37	1	91778956	91778956	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91778956A>G	uc001doa.3	-	c.3341T>C	c.(3340-3342)ATT>ACT	p.I1114T	HFM1_uc009wdb.2_Non-coding_Transcript|HFM1_uc010osu.1_Missense_Mutation_p.I793T|HFM1_uc001dob.3_Missense_Mutation_p.I302T|HFM1_uc010osv.1_Missense_Mutation_p.I798T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1114							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)										0.173077	21.743851	26.990553	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91778956	91778956	7366	1	A	G	G	G	52	4	HFM1	4	4
SLC44A3	126969	broad.mit.edu	37	1	95311004	95311004	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:95311004G>T	uc001dqv.3	+	c.1056G>T	c.(1054-1056)CTG>CTT	p.L352L	SLC44A3_uc001dqx.3_Silent_p.L352L|SLC44A3_uc010otq.1_Silent_p.L284L|SLC44A3_uc010otr.1_Silent_p.L316L|SLC44A3_uc001dqw.3_Silent_p.L304L|SLC44A3_uc010ots.1_Silent_p.L272L|SLC44A3_uc009wds.2_Silent_p.L255L|SLC44A3_uc010ott.1_Silent_p.L272L|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	352	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)									0.369565	92.016715	93.395531	34	58	KEEP	---	---	---	---	capture		Silent	SNP	95311004	95311004	15134	1	G	T	T	T	574	45	SLC44A3	2	2
SLC25A33	84275	broad.mit.edu	37	1	9642417	9642417	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9642417C>T	uc001apw.2	+	c.824C>T	c.(823-825)GCG>GTG	p.A275V	SLC25A33_uc001apx.2_Missense_Mutation_p.A208V	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN	mitochondrial carrier protein MGC4399	275	Solcar 3.				transport	integral to membrane|mitochondrial inner membrane					0	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)										0.115385	2.743199	6.50051	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9642417	9642417	14994	1	C	T	T	T	351	27	SLC25A33	1	1
DEFB126	81623	broad.mit.edu	37	20	126164	126164	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:126164G>T	uc002wcx.2	+	c.167G>T	c.(166-168)AGG>ATG	p.R56M		NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	defensin, beta 126 preproprotein	56					defense response to bacterium	extracellular region					0		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)											0.303704	110.013302	114.662262	41	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126164	126164	4589	20	G	T	T	T	455	35	DEFB126	2	2
SLC24A3	57419	broad.mit.edu	37	20	19261613	19261613	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19261613C>A	uc002wrl.2	+	c.153C>A	c.(151-153)CTC>CTA	p.L51L	LOC100130264_uc010zsd.1_Intron	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	51	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1														0.272727	7.619846	8.132186	3	8	KEEP	---	---	---	---	capture		Silent	SNP	19261613	19261613	14964	20	C	A	A	A	366	29	SLC24A3	2	2
GZF1	64412	broad.mit.edu	37	20	23345107	23345107	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23345107C>T	uc010gdb.2	+	c.87C>T	c.(85-87)CAC>CAT	p.H29H	GZF1_uc002wsy.2_Silent_p.H29H|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.H29H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	29					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)													0.357143	28.842891	29.345898	10	18	KEEP	---	---	---	---	capture		Silent	SNP	23345107	23345107	7194	20	C	T	T	T	233	18	GZF1	2	2
NAPB	63908	broad.mit.edu	37	20	23361956	23361956	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23361956T>C	uc002wtb.2	-	c.574_splice	c.e8-1	p.V192_splice	NAPB_uc002wta.2_Splice_Site_SNP_p.V188_splice|NAPB_uc002wtc.2_Splice_Site_SNP_p.V94_splice|NAPB_uc002wtd.3_Splice_Site_SNP|NAPB_uc010zss.1_Splice_Site_SNP_p.V75_splice|NAPB_uc010zst.1_Splice_Site_SNP_p.V149_splice	NM_022080	NP_071363			N-ethylmaleimide-sensitive factor attachment						intracellular protein transport|vesicle-mediated transport	membrane				ovary(1)	1	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)													0.254545	40.826694	43.831447	14	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	23361956	23361956	10558	20	T	C	C	C	689	53	NAPB	5	4
TMEM90B	79953	broad.mit.edu	37	20	24565623	24565623	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:24565623C>A	uc002wtw.1	+	c.612C>A	c.(610-612)TCC>TCA	p.S204S		NM_024893	NP_079169	Q9H7V2	TM90B_HUMAN	transmembrane protein 90B	204	Extracellular (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				lung(1)	1														0.28125	23.660671	25.037325	9	23	KEEP	---	---	---	---	capture		Silent	SNP	24565623	24565623	16759	20	C	A	A	A	275	22	TMEM90B	2	2
C20orf141	128653	broad.mit.edu	37	20	2795875	2795875	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2795875G>T	uc010gat.2	+	c.45G>T	c.(43-45)CCG>CCT	p.P15P	C20orf141_uc002wgv.1_Silent_p.P15P|C20orf141_uc002wgw.2_Silent_p.P15P	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	15						integral to membrane					0														0.355556	46.802959	47.623238	16	29	KEEP	---	---	---	---	capture		Silent	SNP	2795875	2795875	2166	20	G	T	T	T	470	37	C20orf141	1	1
C20orf132	140699	broad.mit.edu	37	20	35757453	35757453	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35757453C>T	uc010zvu.1	-	c.1797G>A	c.(1795-1797)ATG>ATA	p.M599I	C20orf132_uc002xgk.2_Missense_Mutation_p.M221I|C20orf132_uc002xgm.2_Missense_Mutation_p.M599I|C20orf132_uc002xgn.2_Missense_Mutation_p.M564I	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	474											0		Myeloproliferative disorder(115;0.00878)												0.112903	8.180138	17.350145	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35757453	35757453	2163	20	C	T	T	T	273	21	C20orf132	2	2
BPI	671	broad.mit.edu	37	20	36959463	36959463	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36959463C>A	uc002xib.2	+	c.1255C>A	c.(1255-1257)CTG>ATG	p.L419M		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	419					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)												0.269841	42.845348	45.857876	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36959463	36959463	1518	20	C	A	A	A	259	20	BPI	2	2
DNTTIP1	116092	broad.mit.edu	37	20	44433786	44433786	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44433786G>T	uc002xpk.2	+	c.605G>T	c.(604-606)TGG>TTG	p.W202L		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	202						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)												0.347826	158.630161	161.93031	56	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44433786	44433786	4864	20	G	T	T	T	611	47	DNTTIP1	2	2
DDX27	55661	broad.mit.edu	37	20	47839548	47839548	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47839548A>T	uc002xuh.2	+	c.388A>T	c.(388-390)ACA>TCA	p.T130S		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	130	Asp/Glu/Lys-rich.					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)											0.146341	9.121851	14.052749	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47839548	47839548	4525	20	A	T	T	T	26	2	DDX27	3	3
SLC23A2	9962	broad.mit.edu	37	20	4837809	4837809	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4837809C>A	uc002wlg.1	-	c.1762G>T	c.(1762-1764)GTG>TTG	p.V588L	SLC23A2_uc010zqr.1_Missense_Mutation_p.V473L|SLC23A2_uc002wlh.1_Missense_Mutation_p.V588L	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	588					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2														0.243243	22.355814	24.579804	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4837809	4837809	14960	20	C	A	A	A	221	17	SLC23A2	2	2
COL9A3	1299	broad.mit.edu	37	20	61468464	61468464	+	Silent	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61468464A>C	uc002ydm.2	+	c.1633A>C	c.(1633-1635)AGG>CGG	p.R545R	COL9A3_uc002ydn.2_Silent_p.R39R	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	545	Nonhelical region 3 (NC3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.362069	54.251405	55.22533	21	37	KEEP	---	---	---	---	capture		Silent	SNP	61468464	61468464	3847	20	A	C	C	C	36	3	COL9A3	4	4
TPTE	7179	broad.mit.edu	37	21	10970032	10970032	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10970032G>C	uc002yip.1	-	c.96C>G	c.(94-96)ACC>ACG	p.T32T	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.T32T|TPTE_uc002yir.1_Silent_p.T32T|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.064706	-11.596775	21.877628	11	159	KEEP	---	---	---	---	capture		Silent	SNP	10970032	10970032	16974	21	G	C	C	C	496	39	TPTE	3	3
LIPI	149998	broad.mit.edu	37	21	15481394	15481394	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15481394G>T	uc002yjm.2	-	c.1366C>A	c.(1366-1368)CTT>ATT	p.L456I		NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	435					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)										0.230216	82.529858	91.801519	32	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15481394	15481394	9152	21	G	T	T	T	468	36	LIPI	2	2
NRIP1	8204	broad.mit.edu	37	21	16339226	16339226	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:16339226C>A	uc002yjx.2	-	c.1288G>T	c.(1288-1290)GGT>TGT	p.G430C		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	430	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)										0.1875	38.816161	47.579144	18	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16339226	16339226	11057	21	C	A	A	A	273	21	NRIP1	2	2
NCAM2	4685	broad.mit.edu	37	21	22804571	22804571	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22804571T>G	uc002yld.1	+	c.1624T>G	c.(1624-1626)TGG>GGG	p.W542G	NCAM2_uc011acb.1_Missense_Mutation_p.W400G	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	542	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.319149	40.704492	42.072775	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804571	22804571	10602	21	T	G	G	G	715	55	NCAM2	4	4
ADAMTS5	11096	broad.mit.edu	37	21	28296687	28296687	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28296687C>A	uc002ymg.2	-	c.2478G>T	c.(2476-2478)ACG>ACT	p.T826T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	826	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.293333	57.917461	60.787154	22	53	KEEP	---	---	---	---	capture		Silent	SNP	28296687	28296687	270	21	C	A	A	A	392	31	ADAMTS5	1	1
ADAMTS5	11096	broad.mit.edu	37	21	28337809	28337809	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28337809A>C	uc002ymg.2	-	c.902T>G	c.(901-903)CTG>CGG	p.L301R		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	301	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.292683	27.283197	28.861866	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28337809	28337809	270	21	A	C	C	C	91	7	ADAMTS5	4	4
USP16	10600	broad.mit.edu	37	21	30400249	30400249	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30400249G>A	uc002ymy.2	+	c.15G>A	c.(13-15)CGG>CGA	p.R5R	USP16_uc002ymx.2_Silent_p.R5R|USP16_uc002ymw.2_Silent_p.R5R|USP16_uc011acm.1_Intron|USP16_uc011acn.1_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	5					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			pancreas(1)	1						Melanoma(92;625 1444 27493 34101 44971)								0.12069	8.688844	16.867154	7	51	KEEP	---	---	---	---	capture		Silent	SNP	30400249	30400249	17609	21	G	A	A	A	522	41	USP16	2	2
KRTAP26-1	388818	broad.mit.edu	37	21	31692293	31692293	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31692293G>A	uc002ynw.2	-	c.61C>T	c.(61-63)CAT>TAT	p.H21Y		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	21						intermediate filament				ovary(1)	1														0.328767	70.331482	72.201007	24	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31692293	31692293	8865	21	G	A	A	A	611	47	KRTAP26-1	2	2
DOPEY2	9980	broad.mit.edu	37	21	37597896	37597896	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37597896C>G	uc002yvg.2	+	c.1404C>G	c.(1402-1404)AGC>AGG	p.S468R	DOPEY2_uc011aeb.1_Missense_Mutation_p.S468R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	468					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.333333	23.795772	24.384302	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37597896	37597896	4892	21	C	G	G	G	350	27	DOPEY2	3	3
PRDM15	63977	broad.mit.edu	37	21	43259796	43259796	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43259796C>A	uc002yzq.1	-	c.1905G>T	c.(1903-1905)GGG>GGT	p.G635G	PRDM15_uc002yzo.2_Silent_p.G306G|PRDM15_uc002yzp.2_Silent_p.G306G|PRDM15_uc002yzr.1_Silent_p.G306G	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.261905	25.803092	27.896745	11	31	KEEP	---	---	---	---	capture		Silent	SNP	43259796	43259796	12898	21	C	A	A	A	379	30	PRDM15	2	2
TRPM2	7226	broad.mit.edu	37	21	45811202	45811202	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45811202G>A	uc010gpt.1	+	c.1488G>A	c.(1486-1488)AAG>AAA	p.K496K	TRPM2_uc002zet.1_Silent_p.K496K|TRPM2_uc002zeu.1_Silent_p.K496K|TRPM2_uc002zew.1_Silent_p.K496K|TRPM2_uc002zex.1_Silent_p.K282K|TRPM2_uc002zey.1_Silent_p.K9K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	496	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.25	10.293007	11.201532	4	12	KEEP	---	---	---	---	capture		Silent	SNP	45811202	45811202	17137	21	G	A	A	A	438	34	TRPM2	2	2
KRTAP10-4	386672	broad.mit.edu	37	21	45994747	45994748	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45994747_45994748CC>AA	uc002zfk.1	+	c.1112_1113CC>AA	c.(1111-1113)CCC>CAA	p.P371Q	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	371	36 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.366667	29.718403	30.186009	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	45994747	45994748	8826	21	CC	AA	AA	AA	286	22	KRTAP10-4	2	2
MYO18B	84700	broad.mit.edu	37	22	26173729	26173729	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26173729T>A	uc003abz.1	+	c.2049T>A	c.(2047-2049)AGT>AGA	p.S683R	MYO18B_uc003aca.1_Missense_Mutation_p.S564R|MYO18B_uc010guy.1_Missense_Mutation_p.S564R|MYO18B_uc010guz.1_Missense_Mutation_p.S564R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.S196R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	683	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.3125	27.836619	28.839916	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26173729	26173729	10461	22	T	A	A	A	764	59	MYO18B	3	3
NCAPH2	29781	broad.mit.edu	37	22	50955911	50955911	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50955911G>T	uc003blx.3	+	c.266G>T	c.(265-267)AGG>ATG	p.R89M	NCAPH2_uc003blq.3_Missense_Mutation_p.R89M|NCAPH2_uc003blv.2_Missense_Mutation_p.R89M|NCAPH2_uc003blr.3_Missense_Mutation_p.R89M|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_Non-coding_Transcript|NCAPH2_uc003bls.3_Non-coding_Transcript|NCAPH2_uc003blt.3_Non-coding_Transcript|NCAPH2_uc003blw.3_Non-coding_Transcript|NCAPH2_uc003bly.3_Non-coding_Transcript	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	89					chromosome condensation	chromosome|nucleus				ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)										0.210526	6.266387	7.771333	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50955911	50955911	10609	22	G	T	T	T	455	35	NCAPH2	2	2
LONRF2	164832	broad.mit.edu	37	2	100903408	100903408	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:100903408C>G	uc002tal.3	-	c.2038G>C	c.(2038-2040)GGG>CGG	p.G680R	LONRF2_uc010yvs.1_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	680	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)	1														0.245098	64.227336	70.262374	25	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100903408	100903408	9267	2	C	G	G	G	273	21	LONRF2	3	3
IL18RAP	8807	broad.mit.edu	37	2	103053705	103053705	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103053705C>G	uc002tbx.2	+	c.613C>G	c.(613-615)CGA>GGA	p.R205G	IL18RAP_uc010fiz.2_Missense_Mutation_p.R63G	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	205	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.190476	16.192535	19.941763	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103053705	103053705	7949	2	C	G	G	G	295	23	IL18RAP	3	3
FBLN7	129804	broad.mit.edu	37	2	112922668	112922668	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112922668C>T	uc002tho.1	+	c.326C>T	c.(325-327)CCT>CTT	p.P109L	FBLN7_uc002thn.2_Missense_Mutation_p.P109L|FBLN7_uc010fki.1_Missense_Mutation_p.P109L|FBLN7_uc010fkj.1_Missense_Mutation_p.P109L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	109	Sushi.				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2														0.2	14.232729	16.743824	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112922668	112922668	5937	2	C	T	T	T	312	24	FBLN7	2	2
GLI2	2736	broad.mit.edu	37	2	121746735	121746735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:121746735C>A	uc010flp.2	+	c.3245C>A	c.(3244-3246)ACC>AAC	p.T1082N	GLI2_uc002tmq.1_Missense_Mutation_p.T754N|GLI2_uc002tmr.1_Missense_Mutation_p.T737N|GLI2_uc002tmt.3_Missense_Mutation_p.T754N|GLI2_uc002tmu.3_Missense_Mutation_p.T737N	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1082					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.4	22.993758	23.16927	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121746735	121746735	6706	2	C	A	A	A	234	18	GLI2	2	2
POTEF	728378	broad.mit.edu	37	2	130832525	130832525	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130832525C>T	uc010fmh.2	-	c.2520G>A	c.(2518-2520)CTG>CTA	p.L840L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	840	Actin-like.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.4375	39.034214	39.144695	14	18	KEEP	---	---	---	---	capture		Silent	SNP	130832525	130832525	12695	2	C	T	T	T	210	17	POTEF	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541934	133541934	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541934A>G	uc002ttp.2	-	c.2450T>C	c.(2449-2451)ATG>ACG	p.M817T	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	817							protein binding				0														0.252874	111.591663	121.192752	44	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133541934	133541934	10622	2	A	G	G	G	104	8	NCKAP5	4	4
NCKAP5	344148	broad.mit.edu	37	2	133542605	133542605	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133542605T>C	uc002ttp.2	-	c.1779A>G	c.(1777-1779)ATA>ATG	p.I593M	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	593							protein binding				0														0.270833	39.054487	41.327375	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133542605	133542605	10622	2	T	C	C	C	680	53	NCKAP5	4	4
LCT	3938	broad.mit.edu	37	2	136561677	136561677	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136561677G>C	uc002tuu.1	-	c.4486C>G	c.(4486-4488)CTA>GTA	p.L1496V		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1496	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.302326	30.356384	31.858082	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136561677	136561677	9017	2	G	C	C	C	451	35	LCT	3	3
NXPH2	11249	broad.mit.edu	37	2	139429201	139429201	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139429201G>T	uc002tvi.2	-	c.86C>A	c.(85-87)ACG>AAG	p.T29K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	29	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)										0.284091	69.510845	73.151056	25	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139429201	139429201	11196	2	G	T	T	T	520	40	NXPH2	1	1
LRP1B	53353	broad.mit.edu	37	2	141093280	141093280	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141093280G>T	uc002tvj.1	-	c.12020C>A	c.(12019-12021)TCT>TAT	p.S4007Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4007	Extracellular (Potential).|LDL-receptor class B 34.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)			p.S4007C(C2BBE1-Tumor)	2546	TSP Lung(27;0.18)			0.258824	54.052324	58.504622	22	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141093280	141093280	9328	2	G	T	T	T	429	33	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141215061	141215061	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141215061T>A	uc002tvj.1	-	c.9785A>T	c.(9784-9786)CAG>CTG	p.Q3262L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3262	Extracellular (Potential).|LDL-receptor class B 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.260274	50.791569	54.58973	19	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141215061	141215061	9328	2	T	A	A	A	715	55	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141259433	141259433	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141259433G>T	uc002tvj.1	-	c.8673C>A	c.(8671-8673)TGC>TGA	p.C2891*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2891	Extracellular (Potential).|LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.333333	13.368852	13.738436	5	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141259433	141259433	9328	2	G	T	T	T	594	46	LRP1B	5	2
LRP1B	53353	broad.mit.edu	37	2	141773438	141773438	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141773438C>A	uc002tvj.1	-	c.2017G>T	c.(2017-2019)GTG>TTG	p.V673L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	673	Extracellular (Potential).|LDL-receptor class B 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V673L(1)		lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.186047	16.578603	20.548868	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141773438	141773438	9328	2	C	A	A	A	247	19	LRP1B	1	1
RBM43	375287	broad.mit.edu	37	2	152107565	152107565	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152107565T>C	uc002txh.2	-	c.929A>G	c.(928-930)AAA>AGA	p.K310R		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	310							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)										0.290323	81.692062	85.352677	27	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152107565	152107565	13599	2	T	C	C	C	832	64	RBM43	4	4
NEB	4703	broad.mit.edu	37	2	152467372	152467372	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152467372G>T	uc010fnx.2	-	c.11085C>A	c.(11083-11085)TAC>TAA	p.Y3695*		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3695	Nebulin 101.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.25	13.414245	14.518401	5	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152467372	152467372	10701	2	G	T	T	T	620	48	NEB	5	2
PSMD14	10213	broad.mit.edu	37	2	162175365	162175365	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162175365G>T	uc002ubu.2	+	c.29G>T	c.(28-30)GGT>GTT	p.G10V		NM_005805	NP_005796	O00487	PSDE_HUMAN	proteasome 26S subunit, non-ATPase 14	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity				0														0.25	16.141122	17.502761	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162175365	162175365	13150	2	G	T	T	T	572	44	PSMD14	2	2
CSRNP3	80034	broad.mit.edu	37	2	166535905	166535905	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166535905T>C	uc002udf.2	+	c.1400T>C	c.(1399-1401)CTG>CCG	p.L467P	CSRNP3_uc002udg.2_Missense_Mutation_p.L467P	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	467					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)	4														0.205882	51.600242	62.545657	28	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166535905	166535905	4106	2	T	C	C	C	715	55	CSRNP3	4	4
PXDN	7837	broad.mit.edu	37	2	1687855	1687855	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1687855C>T	uc002qxa.2	-	c.485G>A	c.(484-486)AGG>AAG	p.R162K	PXDN_uc002qxb.1_Missense_Mutation_p.R162K|PXDN_uc002qxc.1_5'UTR	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	162	LRR 4.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.25	13.565543	14.70159	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1687855	1687855	13305	2	C	T	T	T	312	24	PXDN	2	2
KBTBD10	10324	broad.mit.edu	37	2	170366651	170366651	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170366651C>A	uc002ueu.1	+	c.363C>A	c.(361-363)GTC>GTA	p.V121V	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	121					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0														0.326087	37.905327	39.141667	15	31	KEEP	---	---	---	---	capture		Silent	SNP	170366651	170366651	8294	2	C	A	A	A	405	32	KBTBD10	2	2
MYO3B	140469	broad.mit.edu	37	2	171240248	171240248	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171240248G>T	uc002ufy.2	+	c.1214G>T	c.(1213-1215)CGC>CTC	p.R405L	MYO3B_uc002ufv.2_Missense_Mutation_p.R392L|MYO3B_uc010fqb.1_Missense_Mutation_p.R392L|MYO3B_uc002ufz.2_Missense_Mutation_p.R405L|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	405	Myosin head-like.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.R405L(1)		lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16									p.R405H(786O-Tumor)	1118				0.285714	81.372685	85.403141	28	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171240248	171240248	10472	2	G	T	T	T	494	38	MYO3B	1	1
MAP1D	254042	broad.mit.edu	37	2	172926339	172926339	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:172926339A>G	uc002uhk.2	+	c.154A>G	c.(154-156)ATA>GTA	p.I52V	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	52					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)											0.260504	80.760065	87.04261	31	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172926339	172926339	9612	2	A	G	G	G	208	16	MAP1D	4	4
WIPF1	7456	broad.mit.edu	37	2	175436403	175436403	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175436403C>A	uc010fqt.1	-	c.1129_splice	c.e5+1	p.G377_splice	WIPF1_uc002uja.2_Splice_Site_SNP_p.G377_splice|WIPF1_uc002ujc.1_Missense_Mutation_p.G377V|WIPF1_uc002uiy.2_Splice_Site_SNP_p.G377_splice|WIPF1_uc002uiz.2_Splice_Site_SNP_p.G377_splice|WIPF1_uc002ujb.1_Splice_Site_SNP_p.G377_splice|WIPF1_uc010zep.1_Missense_Mutation_p.G377V	NM_003387	NP_003378			WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)	1														0.228571	18.492781	20.781684	8	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	175436403	175436403	17941	2	C	A	A	A	234	18	WIPF1	5	2
RAD51AP2	729475	broad.mit.edu	37	2	17697671	17697671	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17697671C>T	uc002rcl.1	-	c.2012G>A	c.(2011-2013)AGT>AAT	p.S671N	RAD51AP2_uc010exn.1_Missense_Mutation_p.S662N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	671										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.137931	6.77992	10.456759	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17697671	17697671	13447	2	C	T	T	T	260	20	RAD51AP2	2	2
TTN	7273	broad.mit.edu	37	2	179434377	179434377	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179434377G>A	uc010zfg.1	-	c.68778C>T	c.(68776-68778)GAC>GAT	p.D22926D	TTN_uc010zfh.1_Silent_p.D16621D|TTN_uc010zfi.1_Silent_p.D16554D|TTN_uc010zfj.1_Silent_p.D16429D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2691										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)							8722				0.3	14.64861	15.3599	6	14	KEEP	---	---	---	---	capture		Silent	SNP	179434377	179434377	17290	2	G	A	A	A	516	40	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179483204	179483204	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179483204C>A	uc010zfg.1	-	c.39277G>T	c.(39277-39279)GTA>TTA	p.V13093L	TTN_uc010zfh.1_Missense_Mutation_p.V6788L|TTN_uc010zfi.1_Missense_Mutation_p.V6721L|TTN_uc010zfj.1_Missense_Mutation_p.V6596L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3439										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)							8722				0.306452	53.748101	55.79391	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179483204	179483204	17290	2	C	A	A	A	260	20	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179554576	179554576	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179554576G>T	uc010zfg.1	-	c.28078C>A	c.(28078-28080)CCT>ACT	p.P9360T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6021T|TTN_uc010fre.1_Missense_Mutation_p.P471T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	672										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)							8722				0.268966	95.790918	102.757898	39	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179554576	179554576	17290	2	G	T	T	T	533	41	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179582523	179582523	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179582523G>T	uc010zfg.1	-	c.21346C>A	c.(21346-21348)CCT>ACT	p.P7116T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3777T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3437										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)							8722				0.30303	27.53855	28.68073	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179582523	179582523	17290	2	G	T	T	T	572	44	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179584853	179584853	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179584853C>A	uc010zfg.1	-	c.19784G>T	c.(19783-19785)AGT>ATT	p.S6595I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3256I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3551										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)						p.S6595fs(IM95-Tumor)	8722				0.223881	36.991625	41.685796	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179584853	179584853	17290	2	C	A	A	A	260	20	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179593857	179593857	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179593857G>C	uc010zfg.1	-	c.15176C>G	c.(15175-15177)ACT>AGT	p.T5059S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T1720S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2089										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)							8722				0.210526	19.372426	22.327112	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179593857	179593857	17290	2	G	C	C	C	468	36	TTN	3	3
KCNS3	3790	broad.mit.edu	37	2	18112663	18112663	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:18112663G>T	uc002rcv.2	+	c.388G>T	c.(388-390)GAG>TAG	p.E130*	KCNS3_uc002rcw.2_Nonsense_Mutation_p.E130*	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	130	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.195652	54.54448	66.473397	27	111	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18112663	18112663	8395	2	G	T	T	T	481	37	KCNS3	5	1
COL3A1	1281	broad.mit.edu	37	2	189856414	189856414	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189856414G>T	uc002uqj.1	+	c.917G>T	c.(916-918)GGT>GTT	p.G306V	COL3A1_uc010frw.1_Non-coding_Transcript	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	306	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.271186	42.284268	45.063672	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189856414	189856414	3826	2	G	T	T	T	572	44	COL3A1	2	2
DNAH7	56171	broad.mit.edu	37	2	196825392	196825392	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196825392C>A	uc002utj.3	-	c.2483G>T	c.(2482-2484)AGA>ATA	p.R828I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	828	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.256881	66.246372	72.090123	28	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196825392	196825392	4789	2	C	A	A	A	416	32	DNAH7	2	2
DNAH7	56171	broad.mit.edu	37	2	196892698	196892698	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196892698C>A	uc002utj.3	-	c.472G>T	c.(472-474)GAG>TAG	p.E158*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	158	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.336283	101.001892	103.688912	38	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196892698	196892698	4789	2	C	A	A	A	416	32	DNAH7	5	2
DNAH7	56171	broad.mit.edu	37	2	196913077	196913077	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196913077C>A	uc002utj.3	-	c.193G>T	c.(193-195)GTA>TTA	p.V65L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	65	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.174603	21.901317	28.188955	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196913077	196913077	4789	2	C	A	A	A	221	17	DNAH7	2	2
STK17B	9262	broad.mit.edu	37	2	197004484	197004484	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197004484T>C	uc002utk.2	-	c.696A>G	c.(694-696)ACA>ACG	p.T232T	STK17B_uc010fsh.2_Silent_p.T232T	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	232	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)							94				0.152542	16.036852	22.853585	9	50	KEEP	---	---	---	---	capture		Silent	SNP	197004484	197004484	15811	2	T	C	C	C	652	51	STK17B	4	4
CASP10	843	broad.mit.edu	37	2	202073835	202073835	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202073835A>G	uc002uxj.1	+	c.965A>G	c.(964-966)CAT>CGT	p.H322R	CASP10_uc002uxk.1_Missense_Mutation_p.H279R|CASP10_uc010fta.1_Missense_Mutation_p.H255R|CASP10_uc002uxl.1_Missense_Mutation_p.H322R|CASP10_uc002uxm.1_Missense_Mutation_p.H279R|CASP10_uc010ftb.1_Non-coding_Transcript	NM_032977	NP_116759	Q92851	CASPA_HUMAN	caspase 10 isoform d preproprotein	322					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)	5										219				0.28125	22.16565	23.53963	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202073835	202073835	2788	2	A	G	G	G	104	8	CASP10	4	4
ALS2CR12	130540	broad.mit.edu	37	2	202211387	202211387	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202211387G>T	uc010ftg.2	-	c.246C>A	c.(244-246)AAC>AAA	p.N82K	ALS2CR12_uc002uya.3_Missense_Mutation_p.N82K|ALS2CR12_uc010fth.2_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	82					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.233766	143.155595	158.122481	54	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202211387	202211387	556	2	G	T	T	T	516	40	ALS2CR12	1	1
ALS2CR12	130540	broad.mit.edu	37	2	202211399	202211399	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202211399C>G	uc010ftg.2	-	c.235_splice	c.e5-1	p.E79_splice	ALS2CR12_uc002uya.3_Splice_Site_SNP_p.E79_splice|ALS2CR12_uc010fth.2_Splice_Site_SNP	NM_139163	NP_631902			amyotrophic lateral sclerosis 2 (juvenile)						regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.239819	134.755478	148.418663	53	168	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	202211399	202211399	556	2	C	G	G	G	312	24	ALS2CR12	5	3
MPP4	58538	broad.mit.edu	37	2	202554925	202554925	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202554925C>A	uc002uyk.3	-	c.279G>T	c.(277-279)GAG>GAT	p.E93D	MPP4_uc010ftj.2_Missense_Mutation_p.E93D|MPP4_uc010zhq.1_Missense_Mutation_p.E93D|MPP4_uc010zhr.1_Missense_Mutation_p.E93D|MPP4_uc010zhs.1_Missense_Mutation_p.E93D|MPP4_uc002uyj.3_Missense_Mutation_p.E93D|MPP4_uc010zht.1_Missense_Mutation_p.E93D|MPP4_uc002uyl.3_Non-coding_Transcript|MPP4_uc010ftk.2_Missense_Mutation_p.E93D|MPP4_uc002uym.1_Missense_Mutation_p.E106D|MPP4_uc002uyn.2_Missense_Mutation_p.E93D	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	93	L27 2.					cytoplasm	protein binding				0														0.242424	21.085378	23.080361	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202554925	202554925	10128	2	C	A	A	A	311	24	MPP4	2	2
NDUFS1	4719	broad.mit.edu	37	2	207011778	207011778	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207011778C>T	uc010ziq.1	-	c.628G>A	c.(628-630)GGA>AGA	p.G210R	NDUFS1_uc002vbe.2_Missense_Mutation_p.G196R|NDUFS1_uc010zir.1_Missense_Mutation_p.G160R|NDUFS1_uc010zis.1_Missense_Mutation_p.G139R|NDUFS1_uc010zit.1_Missense_Mutation_p.G85R|NDUFS1_uc010ziu.1_Missense_Mutation_p.G80R	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	196					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)									0.148148	15.062555	21.481331	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207011778	207011778	10690	2	C	T	T	T	286	22	NDUFS1	2	2
CPO	130749	broad.mit.edu	37	2	207827200	207827200	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207827200A>G	uc002vby.2	+	c.639A>G	c.(637-639)CCA>CCG	p.P213P		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	213					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)										0.310811	127.368934	132.104421	46	102	KEEP	---	---	---	---	capture		Silent	SNP	207827200	207827200	3958	2	A	G	G	G	80	7	CPO	4	4
PIKFYVE	200576	broad.mit.edu	37	2	209142260	209142260	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209142260G>T	uc002vcz.2	+	c.442_splice	c.e5-1	p.D148_splice	PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Splice_Site_SNP_p.D148_splice|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Splice_Site_SNP_p.D148_splice|PIKFYVE_uc002vcx.2_Intron	NM_015040	NP_055855			phosphatidylinositol-3-phosphate 5-kinase type						cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.326087	40.306265	41.54209	15	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	209142260	209142260	12348	2	G	T	T	T	455	35	PIKFYVE	5	2
MAP2	4133	broad.mit.edu	37	2	210559290	210559290	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210559290G>T	uc002vde.1	+	c.2396G>T	c.(2395-2397)GGT>GTT	p.G799V	MAP2_uc002vdc.1_Missense_Mutation_p.G799V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.G795V	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	799					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.328571	60.001398	61.775689	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210559290	210559290	9618	2	G	T	T	T	572	44	MAP2	2	2
APOB	338	broad.mit.edu	37	2	21236176	21236176	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21236176G>T	uc002red.2	-	c.4072C>A	c.(4072-4074)CTC>ATC	p.L1358I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1358					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.240964	146.561506	161.827581	60	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21236176	21236176	796	2	G	T	T	T	455	35	APOB	2	2
VIL1	7429	broad.mit.edu	37	2	219293043	219293043	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219293043C>A	uc002via.2	+	c.550C>A	c.(550-552)CGT>AGT	p.R184S	VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Missense_Mutation_p.R184S|VIL1_uc002vic.1_Missense_Mutation_p.R184S	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	184	Gelsolin-like 2.|Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.222222	9.593196	10.869287	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219293043	219293043	17731	2	C	A	A	A	299	23	VIL1	1	1
CCDC108	255101	broad.mit.edu	37	2	219869057	219869057	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219869057G>A	uc002vjl.1	-	c.5172C>T	c.(5170-5172)AGC>AGT	p.S1724S	MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1724						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.35	19.418599	19.815795	7	13	KEEP	---	---	---	---	capture		Silent	SNP	219869057	219869057	2863	2	G	A	A	A	542	42	CCDC108	2	2
ANKZF1	55139	broad.mit.edu	37	2	220100211	220100211	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220100211G>T	uc002vkg.2	+	c.1707G>T	c.(1705-1707)CGG>CGT	p.R569R	ANKZF1_uc002vkh.2_Silent_p.R359R|ANKZF1_uc002vki.2_Silent_p.R569R	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	569						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.306122	37.804632	39.448838	15	34	KEEP	---	---	---	---	capture		Silent	SNP	220100211	220100211	701	2	G	T	T	T	535	42	ANKZF1	2	2
DOCK10	55619	broad.mit.edu	37	2	225639791	225639791	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225639791C>A	uc010fwz.1	-	c.5844G>T	c.(5842-5844)CAG>CAT	p.Q1948H	DOCK10_uc002vob.2_Missense_Mutation_p.Q1942H|DOCK10_uc002voa.2_Missense_Mutation_p.Q604H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1948	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)										0.1875	13.331236	16.257195	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225639791	225639791	4869	2	C	A	A	A	311	24	DOCK10	2	2
COPS7B	64708	broad.mit.edu	37	2	232663663	232663663	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232663663G>T	uc002vsg.1	+	c.625G>T	c.(625-627)GTA>TTA	p.V209L	COPS7B_uc010fxy.1_Missense_Mutation_p.V175L|COPS7B_uc002vsh.1_Missense_Mutation_p.V209L|COPS7B_uc002vsi.1_Missense_Mutation_p.V102L|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Missense_Mutation_p.V102L	NM_022730	NP_073567	Q9H9Q2	CSN7B_HUMAN	COP9 constitutive photomorphogenic homolog	209	Potential.					cytoplasm|signalosome				ovary(1)|liver(1)|skin(1)	3		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)										0.4	35.69318	35.955717	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232663663	232663663	3877	2	G	T	T	T	572	44	COPS7B	2	2
ECEL1	9427	broad.mit.edu	37	2	233349303	233349303	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233349303G>C	uc002vsv.2	-	c.1063C>G	c.(1063-1065)CGG>GGG	p.R355G	ECEL1_uc010fya.1_Missense_Mutation_p.R355G|ECEL1_uc010fyb.1_Missense_Mutation_p.R62G	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	355	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.257576	40.435955	43.960739	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233349303	233349303	5078	2	G	C	C	C	493	38	ECEL1	3	3
ATG16L1	55054	broad.mit.edu	37	2	234186221	234186221	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234186221A>T	uc002vty.2	+	c.962A>T	c.(961-963)CAT>CTT	p.H321L	ATG16L1_uc002vtx.1_Missense_Mutation_p.H158L|ATG16L1_uc002vua.2_Missense_Mutation_p.H302L|ATG16L1_uc002vub.2_Missense_Mutation_p.H179L|ATG16L1_uc002vtz.2_Missense_Mutation_p.H177L|ATG16L1_uc002vud.3_Missense_Mutation_p.H237L	NM_030803	NP_110430	Q676U5	A16L1_HUMAN	APG16 autophagy 16-like isoform 1	321	WD 1.				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding				0		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)										0.297297	33.619393	34.973475	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234186221	234186221	1110	2	A	T	T	T	104	8	ATG16L1	3	3
COL6A3	1293	broad.mit.edu	37	2	238245034	238245034	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238245034T>C	uc002vwl.2	-	c.8709A>G	c.(8707-8709)CCA>CCG	p.P2903P	COL6A3_uc002vwo.2_Silent_p.P2697P|COL6A3_uc010znj.1_Silent_p.P2296P|COL6A3_uc002vwj.2_Silent_p.P284P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2903	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)|pancreas(1)	15		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)										0.307692	28.079858	29.369087	12	27	KEEP	---	---	---	---	capture		Silent	SNP	238245034	238245034	3839	2	T	C	C	C	652	51	COL6A3	4	4
PLB1	151056	broad.mit.edu	37	2	28739721	28739721	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28739721G>A	uc002rmb.1	+	c.102G>A	c.(100-102)GGG>GGA	p.G34G	PLB1_uc010ezj.1_Silent_p.G34G	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	34	Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.276596	29.311743	31.395418	13	34	KEEP	---	---	---	---	capture		Silent	SNP	28739721	28739721	12450	2	G	A	A	A	535	42	PLB1	2	2
PLB1	151056	broad.mit.edu	37	2	28826903	28826903	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28826903C>G	uc002rmb.1	+	c.2845C>G	c.(2845-2847)CGA>GGA	p.R949G	PLB1_uc010ezj.1_Missense_Mutation_p.R938G|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	949	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.857143	39.106932	40.82612	12	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28826903	28826903	12450	2	C	G	G	G	295	23	PLB1	3	3
LTBP1	4052	broad.mit.edu	37	2	33477883	33477883	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33477883C>G	uc002ros.2	+	c.2139C>G	c.(2137-2139)CAC>CAG	p.H713Q	LTBP1_uc002rot.2_Missense_Mutation_p.H387Q|LTBP1_uc002rou.2_Missense_Mutation_p.H387Q|LTBP1_uc002rov.2_Missense_Mutation_p.H387Q|LTBP1_uc010ymz.1_Missense_Mutation_p.H387Q|LTBP1_uc010yna.1_Missense_Mutation_p.H387Q	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	713	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.25	39.32318	42.504272	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33477883	33477883	9449	2	C	G	G	G	259	20	LTBP1	3	3
SLC8A1	6546	broad.mit.edu	37	2	40656626	40656626	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656626C>A	uc002rrx.2	-	c.795G>T	c.(793-795)AGG>AGT	p.R265S	SLC8A1_uc002rry.2_Missense_Mutation_p.R265S|SLC8A1_uc002rrz.2_Missense_Mutation_p.R265S|SLC8A1_uc002rsa.2_Missense_Mutation_p.R265S|SLC8A1_uc002rsd.3_Missense_Mutation_p.R265S|SLC8A1_uc002rsb.1_Missense_Mutation_p.R265S|SLC8A1_uc010fan.1_Missense_Mutation_p.R265S|SLC8A1_uc002rsc.1_Missense_Mutation_p.R265S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	265	Calmodulin-binding (Potential).|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.284091	62.534755	66.221119	25	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40656626	40656626	15203	2	C	A	A	A	233	18	SLC8A1	2	2
PPM1B	5495	broad.mit.edu	37	2	44428897	44428897	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44428897G>T	uc002rtt.2	+	c.559G>T	c.(559-561)GTG>TTG	p.V187L	PPM1B_uc002rts.2_Missense_Mutation_p.V187L|PPM1B_uc002rtu.2_Missense_Mutation_p.V187L|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.V187L|PPM1B_uc002rtx.2_Missense_Mutation_p.V187L	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	187					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.31746	59.533056	61.370249	20	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44428897	44428897	12771	2	G	T	T	T	520	40	PPM1B	1	1
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807910	48807910	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48807910C>A	uc002rwp.1	+	c.138C>A	c.(136-138)GGC>GGA	p.G46G	STON1_uc002rwo.3_Silent_p.G46G|STON1_uc010fbm.2_Silent_p.G46G|STON1-GTF2A1L_uc010yol.1_Silent_p.G46G|STON1_uc002rwr.2_Non-coding_Transcript|STON1_uc002rwq.2_Silent_p.G46G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	46					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex	RNA polymerase II transcription factor activity			ovary(3)|pancreas(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)											0.194444	12.500735	15.641071	7	29	KEEP	---	---	---	---	capture		Silent	SNP	48807910	48807910	15837	2	C	A	A	A	327	26	STON1-GTF2A1L	2	2
LHCGR	3973	broad.mit.edu	37	2	48914966	48914966	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48914966G>A	uc002rwu.3	-	c.1970C>T	c.(1969-1971)TCA>TTA	p.S657L	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	657	Cytoplasmic (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|breast(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									0.244444	79.265142	87.261504	33	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48914966	48914966	9088	2	G	A	A	A	585	45	LHCGR	2	2
FANCL	55120	broad.mit.edu	37	2	58468386	58468386	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:58468386C>A	uc002rzx.3	-	c.63G>T	c.(61-63)TCG>TCT	p.S21S	FANCL_uc002rzw.3_Silent_p.S21S|FANCL_uc010fce.2_Silent_p.S21S|FANCL_uc010fcf.1_Silent_p.S21S	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	21					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2										286				0.3	32.486648	33.915233	12	28	KEEP	---	---	---	---	capture		Silent	SNP	58468386	58468386	5906	2	C	A	A	A	392	31	FANCL	1	1
KIAA1841	84542	broad.mit.edu	37	2	61304155	61304155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61304155G>T	uc002saw.3	+	c.532G>T	c.(532-534)GAA>TAA	p.E178*	KIAA1841_uc002sax.3_Nonsense_Mutation_p.E32*|KIAA1841_uc002say.2_Nonsense_Mutation_p.E178*|KIAA1841_uc002sav.3_Nonsense_Mutation_p.E178*	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	178											0			Epithelial(17;0.193)											0.4	29.544455	29.763261	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61304155	61304155	8572	2	G	T	T	T	585	45	KIAA1841	5	2
ACTR2	10097	broad.mit.edu	37	2	65473744	65473744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:65473744G>A	uc002sdp.2	+	c.261G>A	c.(259-261)TGG>TGA	p.W87*	ACTR2_uc010yqf.1_Nonsense_Mutation_p.W27*|ACTR2_uc002sdq.2_Nonsense_Mutation_p.W82*|ACTR2_uc010yqg.1_Nonsense_Mutation_p.W30*	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	actin-related protein 2 isoform a	82					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0														0.205128	35.756467	42.048382	16	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65473744	65473744	212	2	G	A	A	A	559	43	ACTR2	5	2
PROKR1	10887	broad.mit.edu	37	2	68882117	68882117	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68882117C>T	uc010yqj.1	+	c.591C>T	c.(589-591)TCC>TCT	p.S197S	PROKR1_uc002ses.2_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	197	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.197368	36.086285	42.56473	15	61	KEEP	---	---	---	---	capture		Silent	SNP	68882117	68882117	12995	2	C	T	T	T	288	23	PROKR1	1	1
GKN2	200504	broad.mit.edu	37	2	69173488	69173488	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69173488C>G	uc002sfa.2	-	c.420G>C	c.(418-420)GAG>GAC	p.E140D	GKN2_uc002sfb.3_Missense_Mutation_p.E140D	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	140	BRICHOS.					extracellular region					0														0.292517	131.484669	137.140067	43	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69173488	69173488	6693	2	C	G	G	G	415	32	GKN2	3	3
GKN1	56287	broad.mit.edu	37	2	69207144	69207144	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69207144G>T	uc002sfc.2	+	c.457G>T	c.(457-459)GCA>TCA	p.A153S		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	153	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(1)	1														0.150685	20.27691	28.812187	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69207144	69207144	6692	2	G	T	T	T	598	46	GKN1	2	2
C2orf65	130951	broad.mit.edu	37	2	74803613	74803613	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74803613G>T	uc002smy.2	-	c.902C>A	c.(901-903)TCG>TAG	p.S301*	C2orf65_uc010ysa.1_Nonsense_Mutation_p.S301*|C2orf65_uc002smz.2_Nonsense_Mutation_p.S301*|C2orf65_uc010ffp.2_Nonsense_Mutation_p.S19*|C2orf65_uc002smx.2_Nonsense_Mutation_p.S57*	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	301					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2														0.254545	35.921515	38.932042	14	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74803613	74803613	2272	2	G	T	T	T	481	37	C2orf65	5	1
REG3G	130120	broad.mit.edu	37	2	79255008	79255008	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79255008C>A	uc002snw.2	+	c.409C>A	c.(409-411)CCC>ACC	p.P137T	REG3G_uc002snx.2_Missense_Mutation_p.P137T|REG3G_uc010ffu.2_Missense_Mutation_p.P91T	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	137	C-type lectin.				acute-phase response	extracellular region	sugar binding				0														0.237624	49.258547	55.611421	24	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79255008	79255008	13682	2	C	A	A	A	390	30	REG3G	2	2
C2orf89	129293	broad.mit.edu	37	2	85097822	85097822	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85097822C>A	uc010ysl.1	-	c.196G>T	c.(196-198)GTT>TTT	p.V66F	C2orf89_uc002sou.3_Missense_Mutation_p.V66F|C2orf89_uc010fgc.1_Missense_Mutation_p.V66F	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	66	Extracellular (Potential).					integral to membrane				ovary(1)	1														0.5	15.475464	15.475464	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85097822	85097822	2295	2	C	A	A	A	260	20	C2orf89	2	2
ASAP2	8853	broad.mit.edu	37	2	9475237	9475237	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9475237G>C	uc002qzh.2	+	c.778G>C	c.(778-780)GAT>CAT	p.D260H	ASAP2_uc002qzi.2_Missense_Mutation_p.D260H	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	260	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0														0.186441	23.881524	29.329927	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9475237	9475237	1029	2	G	C	C	C	533	41	ASAP2	3	3
TRAT1	50852	broad.mit.edu	37	3	108572570	108572570	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108572570G>A	uc003dxi.1	+	c.407G>A	c.(406-408)GGA>GAA	p.G136E	TRAT1_uc010hpx.1_Missense_Mutation_p.G99E	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	136	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity				0														0.208333	21.921625	25.705106	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108572570	108572570	17010	3	G	A	A	A	533	41	TRAT1	2	2
TMPRSS7	344805	broad.mit.edu	37	3	111794299	111794299	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111794299G>C	uc010hqb.2	+	c.1537G>C	c.(1537-1539)GAG>CAG	p.E513Q	TMPRSS7_uc011bhr.1_Missense_Mutation_p.E368Q	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	639	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2														0.309091	105.553194	109.101518	34	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111794299	111794299	16793	3	G	C	C	C	533	41	TMPRSS7	3	3
SLC9A10	285335	broad.mit.edu	37	3	111923162	111923162	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111923162A>C	uc003dyu.2	-	c.2075T>G	c.(2074-2076)CTT>CGT	p.L692R	SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.L644R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	692	Helical; (Potential).				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5														0.122807	9.383839	17.32318	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111923162	111923162	15207	3	A	C	C	C	39	3	SLC9A10	4	4
BTLA	151888	broad.mit.edu	37	3	112190193	112190193	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112190193C>A	uc003dza.3	-	c.413G>T	c.(412-414)AGT>ATT	p.S138I	BTLA_uc003dzb.3_Intron	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	138	Extracellular (Potential).			S -> G (in Ref. 1; AAP44003).	T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)												0.265625	44.747346	47.923296	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112190193	112190193	1592	3	C	A	A	A	260	20	BTLA	2	2
BOC	91653	broad.mit.edu	37	3	113003248	113003248	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113003248C>A	uc003dzz.2	+	c.2723C>A	c.(2722-2724)CCA>CAA	p.P908Q	BOC_uc003dzx.2_Missense_Mutation_p.P907Q|BOC_uc003dzy.2_Missense_Mutation_p.P907Q|BOC_uc003eab.2_Missense_Mutation_p.P608Q|BOC_uc003eac.2_Missense_Mutation_p.P222Q	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	907	Cytoplasmic (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)											0.280488	58.56381	62.137409	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113003248	113003248	1506	3	C	A	A	A	273	21	BOC	2	2
IGSF11	152404	broad.mit.edu	37	3	118621691	118621691	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118621691G>T	uc003ebw.2	-	c.972C>A	c.(970-972)AAC>AAA	p.N324K	IGSF11_uc011biv.1_Missense_Mutation_p.N296K|IGSF11_uc003ebx.2_Missense_Mutation_p.N300K|IGSF11_uc003eby.2_Missense_Mutation_p.N323K|IGSF11_uc003ebz.2_Missense_Mutation_p.N299K|IGSF11_uc010hqs.2_Missense_Mutation_p.N323K	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	324	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.330709	112.413239	115.638442	42	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118621691	118621691	7899	3	G	T	T	T	620	48	IGSF11	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119128425	119128425	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119128425G>C	uc003ecj.3	+	c.1728G>C	c.(1726-1728)CTG>CTC	p.L576L		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	576					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.28	20.815325	21.902527	7	18	KEEP	---	---	---	---	capture		Silent	SNP	119128425	119128425	892	3	G	C	C	C	613	48	ARHGAP31	3	3
ARHGAP31	57514	broad.mit.edu	37	3	119133576	119133576	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119133576C>A	uc003ecj.3	+	c.2800C>A	c.(2800-2802)CTT>ATT	p.L934I		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	934					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.330325	503.388659	517.450036	183	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119133576	119133576	892	3	C	A	A	A	312	24	ARHGAP31	2	2
TMEM39A	55254	broad.mit.edu	37	3	119151022	119151022	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119151022T>A	uc003eck.1	-	c.1273A>T	c.(1273-1275)ATC>TTC	p.I425F	TMEM39A_uc003ecl.1_Missense_Mutation_p.I273F	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	425	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)										0.23913	28.308	31.163336	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119151022	119151022	16700	3	T	A	A	A	663	51	TMEM39A	3	3
FSTL1	11167	broad.mit.edu	37	3	120122145	120122145	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120122145A>T	uc003eds.2	-	c.638T>A	c.(637-639)CTC>CAC	p.L213H	FSTL1_uc011bjh.1_Missense_Mutation_p.L178H	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	213	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)										0.254545	32.102547	35.129898	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120122145	120122145	6328	3	A	T	T	T	143	11	FSTL1	3	3
GOLGB1	2804	broad.mit.edu	37	3	121414164	121414164	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121414164C>A	uc010hrc.2	-	c.5206G>T	c.(5206-5208)GTC>TTC	p.V1736F	GOLGB1_uc003eei.3_Missense_Mutation_p.V1731F|GOLGB1_uc003eej.3_Missense_Mutation_p.V1697F|GOLGB1_uc011bjm.1_Missense_Mutation_p.V1617F|GOLGB1_uc010hrd.1_Missense_Mutation_p.V1695F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1731	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8				GBM - Glioblastoma multiforme(114;0.0989)										0.227273	49.360828	55.364079	20	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121414164	121414164	6838	3	C	A	A	A	234	18	GOLGB1	2	2
CD86	942	broad.mit.edu	37	3	121828231	121828231	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121828231C>A	uc003eet.2	+	c.823C>A	c.(823-825)CGG>AGG	p.R275R	CD86_uc011bjo.1_Silent_p.R193R|CD86_uc011bjp.1_Silent_p.R163R|CD86_uc003eeu.2_Silent_p.R269R	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	275	Cytoplasmic (Potential).				cell-cell signaling|interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			pancreas(1)	1				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GBM(67;1379 1389 36064 39806)								0.279661	88.68389	93.802798	33	85	KEEP	---	---	---	---	capture		Silent	SNP	121828231	121828231	3171	3	C	A	A	A	347	27	CD86	1	1
TSEN2	80746	broad.mit.edu	37	3	12560566	12560566	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12560566A>G	uc003bxc.2	+	c.969A>G	c.(967-969)TTA>TTG	p.L323L	TSEN2_uc003bwy.2_Silent_p.L323L|TSEN2_uc003bwz.2_Silent_p.L264L|TSEN2_uc003bxa.2_Silent_p.L297L|TSEN2_uc011auq.1_Silent_p.L297L|TSEN2_uc003bxb.2_Silent_p.L323L|TSEN2_uc011aur.1_Silent_p.L232L	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	323					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1														0.389831	78.915309	79.541507	23	36	KEEP	---	---	---	---	capture		Silent	SNP	12560566	12560566	17163	3	A	G	G	G	167	13	TSEN2	4	4
WNT7A	7476	broad.mit.edu	37	3	13860878	13860878	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13860878C>A	uc003bye.1	-	c.613G>T	c.(613-615)GTG>TTG	p.V205L		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	205					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JNK cascade|positive regulation of synaptogenesis|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)	2														0.232558	26.333123	29.145486	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13860878	13860878	17968	3	C	A	A	A	247	19	WNT7A	1	1
ZBTB38	253461	broad.mit.edu	37	3	141163054	141163054	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141163054A>T	uc010hup.2	+	c.1827A>T	c.(1825-1827)CCA>CCT	p.P609P	ZBTB38_uc003etw.2_Silent_p.P608P|ZBTB38_uc010hun.2_Silent_p.P605P|ZBTB38_uc010huo.2_Silent_p.P608P|ZBTB38_uc003ety.2_Silent_p.P608P	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	608					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.318182	62.35443	64.29226	21	45	KEEP	---	---	---	---	capture		Silent	SNP	141163054	141163054	18125	3	A	T	T	T	67	6	ZBTB38	3	3
PLSCR4	57088	broad.mit.edu	37	3	145917718	145917718	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145917718C>T	uc010huy.2	-	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	PLSCR4_uc010huz.2_Missense_Mutation_p.R169Q|PLSCR4_uc003evt.3_Missense_Mutation_p.R169Q|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	169	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0														0.516129	54.603504	54.610672	16	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145917718	145917718	12538	3	C	T	T	T	299	23	PLSCR4	1	1
ZIC4	84107	broad.mit.edu	37	3	147113997	147113997	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147113997G>C	uc011bno.1	-	c.480C>G	c.(478-480)CCC>CCG	p.P160P	ZIC4_uc003ewc.1_Silent_p.P40P|ZIC4_uc003ewd.1_Silent_p.P110P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	110						nucleus	DNA binding|zinc ion binding				0														0.34375	25.919589	26.607517	11	21	KEEP	---	---	---	---	capture		Silent	SNP	147113997	147113997	18272	3	G	C	C	C	548	43	ZIC4	3	3
MME	4311	broad.mit.edu	37	3	154862197	154862197	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154862197A>G	uc010hvr.1	+	c.1367A>G	c.(1366-1368)GAT>GGT	p.D456G	MME_uc003fab.1_Missense_Mutation_p.D456G|MME_uc003fac.1_Missense_Mutation_p.D456G|MME_uc003fad.1_Missense_Mutation_p.D456G|MME_uc003fae.1_Missense_Mutation_p.D456G	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	456	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.25	38.621318	41.804777	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154862197	154862197	10035	3	A	G	G	G	156	12	MME	4	4
LEKR1	389170	broad.mit.edu	37	3	156763436	156763436	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156763436C>A	uc003fba.1	+	c.1064C>A	c.(1063-1065)CCC>CAC	p.P355H		NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	Error:Variant_position_missing_in_D3DNK7_after_alignment											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)											0.064516	-3.751634	8.471742	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156763436	156763436	9041	3	C	A	A	A	286	22	LEKR1	2	2
SI	6476	broad.mit.edu	37	3	164709171	164709171	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164709171C>A	uc003fei.2	-	c.5078G>T	c.(5077-5079)TGT>TTT	p.C1693F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1693	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.232323	56.471414	62.969449	23	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164709171	164709171	14792	3	C	A	A	A	221	17	SI	2	2
BCHE	590	broad.mit.edu	37	3	165547419	165547419	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165547419T>C	uc003fem.3	-	c.1403A>G	c.(1402-1404)TAT>TGT	p.Y468C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	468					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.19697	31.043906	36.684247	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165547419	165547419	1379	3	T	C	C	C	637	49	BCHE	4	4
ZBBX	79740	broad.mit.edu	37	3	167051743	167051743	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167051743C>A	uc011bpc.1	-	c.559G>T	c.(559-561)GAT>TAT	p.D187Y	ZBBX_uc003fep.2_Missense_Mutation_p.D187Y|ZBBX_uc003feq.2_Missense_Mutation_p.D158Y	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	187						intracellular	zinc ion binding			ovary(2)	2														0.188679	19.91717	24.726483	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167051743	167051743	18100	3	C	A	A	A	390	30	ZBBX	2	2
CCDC39	339829	broad.mit.edu	37	3	180381730	180381730	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180381730T>G	uc010hxe.2	-	c.135A>C	c.(133-135)TTA>TTC	p.L45F	CCDC39_uc003fkn.2_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	45	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.27907	35.288333	37.171685	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180381730	180381730	2933	3	T	G	G	G	738	57	CCDC39	4	4
HTR3C	170572	broad.mit.edu	37	3	183773141	183773141	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183773141T>A	uc003fmk.2	+	c.276T>A	c.(274-276)GAT>GAA	p.D92E		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	92	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)											0.25	15.34308	16.703492	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183773141	183773141	7746	3	T	A	A	A	673	52	HTR3C	3	3
EHHADH	1962	broad.mit.edu	37	3	184910477	184910477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184910477C>A	uc003fpf.2	-	c.1709G>T	c.(1708-1710)CGA>CTA	p.R570L	EHHADH_uc011brs.1_Missense_Mutation_p.R474L	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	570	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)									0.264151	37.327126	39.991962	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184910477	184910477	5171	3	C	A	A	A	403	31	EHHADH	1	1
AHSG	197	broad.mit.edu	37	3	186331122	186331122	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186331122T>C	uc003fql.3	+	c.192T>C	c.(190-192)GAT>GAC	p.D64D	AHSG_uc003fqj.2_Silent_p.D64D|AHSG_uc003fqk.3_Silent_p.D64D|AHSG_uc003fqm.3_Silent_p.D64D|AHSG_uc010hyp.2_Silent_p.D64D	NM_001622	NP_001613	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	64	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding				0	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)										0.275862	18.977804	20.297826	8	21	KEEP	---	---	---	---	capture		Silent	SNP	186331122	186331122	423	3	T	C	C	C	660	51	AHSG	4	4
KCNH8	131096	broad.mit.edu	37	3	19436595	19436595	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19436595G>T	uc003cbk.1	+	c.970_splice	c.e7-1	p.V324_splice	KCNH8_uc011awe.1_Splice_Site_SNP_p.V324_splice|KCNH8_uc010hex.1_Splice_Site_SNP|KCNH8_uc011awf.1_Splice_Site_SNP	NM_144633	NP_653234			potassium voltage-gated channel, subfamily H,						regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.386364	48.66243	49.161133	17	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	19436595	19436595	8343	3	G	T	T	T	455	35	KCNH8	5	2
MUC20	200958	broad.mit.edu	37	3	195453055	195453055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195453055G>T	uc010hzo.2	+	c.1068G>T	c.(1066-1068)AGG>AGT	p.R356S	MUC20_uc010hzp.2_Missense_Mutation_p.R321S|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	mucin 20 isoform L	527	Involved in oligomerization.		Missing.	VTVSR -> ATG (in Ref. 5; AAH29267).	protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane					0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)										0.25	19.209528	21.303186	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195453055	195453055	10370	3	G	T	T	T	529	41	MUC20	2	2
C3orf43	255798	broad.mit.edu	37	3	196242059	196242059	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196242059G>T	uc003fws.2	-	c.22C>A	c.(22-24)CTG>ATG	p.L8M	C3orf43_uc003fwr.2_De_novo_Start_OutOfFrame	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	8	Potential.					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)										0.376471	97.889528	99.023988	32	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196242059	196242059	2323	3	G	T	T	T	451	35	C3orf43	2	2
KAT2B	8850	broad.mit.edu	37	3	20164180	20164180	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20164180G>T	uc003cbq.2	+	c.1297G>T	c.(1297-1299)GAT>TAT	p.D433Y		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	433					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.277778	13.166676	13.966833	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20164180	20164180	8286	3	G	T	T	T	585	45	KAT2B	2	2
NKTR	4820	broad.mit.edu	37	3	42680803	42680803	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42680803A>T	uc003clo.2	+	c.3607A>T	c.(3607-3609)AGT>TGT	p.S1203C	NKTR_uc003clm.1_Missense_Mutation_p.S950C|NKTR_uc003clp.2_Missense_Mutation_p.S950C|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S1093C|NKTR_uc003clr.1_Missense_Mutation_p.S950C|NKTR_uc003cls.2_Missense_Mutation_p.S903C	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1203					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.24)										0.37037	30.044069	30.442325	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42680803	42680803	10849	3	A	T	T	T	195	15	NKTR	3	3
USP4	7375	broad.mit.edu	37	3	49323555	49323555	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49323555C>G	uc003cwq.2	-	c.2176G>C	c.(2176-2178)GAT>CAT	p.D726H	USP4_uc003cwo.2_Missense_Mutation_p.D438H|USP4_uc003cwp.2_Missense_Mutation_p.D456H|USP4_uc003cwr.2_Missense_Mutation_p.D679H	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	726					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)	3		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)										0.410256	54.493205	54.767494	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49323555	49323555	17635	3	C	G	G	G	377	29	USP4	3	3
IQCF1	132141	broad.mit.edu	37	3	51929313	51929313	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51929313C>A	uc003dbv.2	-	c.211G>T	c.(211-213)GTA>TTA	p.V71L	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	71	IQ 1.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.190476	5.361926	7.199998	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51929313	51929313	8108	3	C	A	A	A	234	18	IQCF1	2	2
CADM2	253559	broad.mit.edu	37	3	86028354	86028354	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:86028354C>A	uc003dql.2	+	c.990C>A	c.(988-990)TCC>TCA	p.S330S	CADM2_uc003dqj.2_Silent_p.S328S|CADM2_uc003dqk.2_Intron	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	328	Thr-rich.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)	3		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)										0.264368	53.725617	58.076912	23	64	KEEP	---	---	---	---	capture		Silent	SNP	86028354	86028354	2683	3	C	A	A	A	275	22	CADM2	2	2
OR5AC2	81050	broad.mit.edu	37	3	97806267	97806267	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97806267T>A	uc011bgs.1	+	c.251T>A	c.(250-252)CTG>CAG	p.L84Q		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.289941	140.311922	146.991373	49	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97806267	97806267	11551	3	T	A	A	A	715	55	OR5AC2	3	3
BRPF1	7862	broad.mit.edu	37	3	9781178	9781178	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9781178G>T	uc003bsf.2	+	c.1095G>T	c.(1093-1095)ACG>ACT	p.T365T	BRPF1_uc003bse.2_Silent_p.T365T|BRPF1_uc003bsg.2_Silent_p.T365T|BRPF1_uc011ati.1_Silent_p.T365T	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	365					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.337079	85.720596	87.811172	30	59	KEEP	---	---	---	---	capture		Silent	SNP	9781178	9781178	1551	3	G	T	T	T	496	39	BRPF1	1	1
TACR3	6870	broad.mit.edu	37	4	104577477	104577477	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104577477C>A	uc003hxe.1	-	c.762G>T	c.(760-762)CTG>CTT	p.L254L		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	254	Helical; Name=5; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.243902	50.454903	55.359882	20	62	KEEP	---	---	---	---	capture		Silent	SNP	104577477	104577477	16028	4	C	A	A	A	262	21	TACR3	2	2
GSTCD	79807	broad.mit.edu	37	4	106638996	106638996	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106638996A>T	uc003hxz.3	+	c.226A>T	c.(226-228)ATT>TTT	p.I76F	GSTCD_uc003hxx.2_Missense_Mutation_p.I76F|GSTCD_uc003hxy.3_Intron|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Missense_Mutation_p.I76F	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	76						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)										0.324675	73.953061	76.051075	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106638996	106638996	7115	4	A	T	T	T	208	16	GSTCD	3	3
AGXT2L1	64850	broad.mit.edu	37	4	109670458	109670458	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109670458C>A	uc003hzc.2	-	c.863G>T	c.(862-864)TGT>TTT	p.C288F	AGXT2L1_uc010imc.2_Missense_Mutation_p.C282F|AGXT2L1_uc011cfm.1_Missense_Mutation_p.C248F|AGXT2L1_uc011cfn.1_Missense_Mutation_p.C215F|AGXT2L1_uc011cfo.1_Missense_Mutation_p.C230F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	288					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)										0.257143	22.257021	24.129683	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109670458	109670458	409	4	C	A	A	A	221	17	AGXT2L1	2	2
C4orf21	55345	broad.mit.edu	37	4	113524814	113524814	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113524814T>A	uc003iau.2	-	c.2842A>T	c.(2842-2844)ACT>TCT	p.T948S	C4orf21_uc003iaw.2_Missense_Mutation_p.T948S	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.25	23.86	25.903589	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113524814	113524814	2349	4	T	A	A	A	741	57	C4orf21	3	3
ANK2	287	broad.mit.edu	37	4	114262855	114262855	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114262855T>C	uc003ibe.3	+	c.3905T>C	c.(3904-3906)ATA>ACA	p.I1302T	ANK2_uc003ibd.3_Missense_Mutation_p.I1293T|ANK2_uc003ibf.3_Missense_Mutation_p.I1302T|ANK2_uc011cgc.1_Missense_Mutation_p.I478T|ANK2_uc003ibg.3_Missense_Mutation_p.I297T|ANK2_uc003ibh.3_5'UTR|ANK2_uc011cgb.1_Missense_Mutation_p.I1317T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1269					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.247934	83.817638	90.793781	30	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114262855	114262855	624	4	T	C	C	C	637	49	ANK2	4	4
NDST4	64579	broad.mit.edu	37	4	115769463	115769463	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115769463C>A	uc003ibu.2	-	c.1848G>T	c.(1846-1848)ATG>ATT	p.M616I	NDST4_uc010imw.2_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	616	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.2	14.708325	17.636085	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115769463	115769463	10657	4	C	A	A	A	325	25	NDST4	2	2
NDST4	64579	broad.mit.edu	37	4	115997623	115997623	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115997623T>C	uc003ibu.2	-	c.570A>G	c.(568-570)CTA>CTG	p.L190L	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	190	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.369231	79.590472	80.564454	24	41	KEEP	---	---	---	---	capture		Silent	SNP	115997623	115997623	10657	4	T	C	C	C	782	61	NDST4	4	4
LARP1B	55132	broad.mit.edu	37	4	128998985	128998985	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128998985A>G	uc003iga.2	+	c.85A>G	c.(85-87)AGA>GGA	p.R29G	LARP1B_uc003ifw.1_Missense_Mutation_p.R29G|LARP1B_uc003ifx.2_Missense_Mutation_p.R29G|LARP1B_uc003ify.2_Missense_Mutation_p.R29G|LARP1B_uc003ifz.1_Missense_Mutation_p.R29G	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	29							RNA binding				0														0.32	26.19262	26.911495	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128998985	128998985	8952	4	A	G	G	G	192	15	LARP1B	4	4
FGA	2243	broad.mit.edu	37	4	155507252	155507252	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155507252C>A	uc003iod.1	-	c.1329G>T	c.(1327-1329)AGG>AGT	p.R443S	FGA_uc003ioe.1_Missense_Mutation_p.R443S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	443	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.221311	57.355225	66.082258	27	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155507252	155507252	6067	4	C	A	A	A	389	30	FGA	2	2
RXFP1	59350	broad.mit.edu	37	4	159548022	159548022	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159548022C>A	uc011cje.1	+	c.887C>A	c.(886-888)TCC>TAC	p.S296Y	RXFP1_uc010iqj.1_Missense_Mutation_p.S98Y|RXFP1_uc003ipz.2_Missense_Mutation_p.S269Y|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.S269Y|RXFP1_uc011cjb.1_Missense_Mutation_p.S215Y|RXFP1_uc010iqk.2_Missense_Mutation_p.S137Y|RXFP1_uc011cjc.1_Missense_Mutation_p.S188Y|RXFP1_uc011cjd.1_Missense_Mutation_p.S188Y|RXFP1_uc010iql.2_Intron|RXFP1_uc010iqm.2_Missense_Mutation_p.S236Y|RXFP1_uc011cjf.1_Missense_Mutation_p.S139Y|RXFP1_uc010iqn.2_Missense_Mutation_p.S215Y	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	269	Extracellular (Potential).|LRR 5.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)										0.291667	18.516438	19.448803	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159548022	159548022	14239	4	C	A	A	A	390	30	RXFP1	2	2
RAPGEF2	9693	broad.mit.edu	37	4	160277144	160277144	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:160277144G>T	uc003iqg.3	+	c.4308G>T	c.(4306-4308)CGG>CGT	p.R1436R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1436					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)						322				0.153846	5.982996	8.963037	4	22	KEEP	---	---	---	---	capture		Silent	SNP	160277144	160277144	13504	4	G	T	T	T	522	41	RAPGEF2	2	2
NPY1R	4886	broad.mit.edu	37	4	164247263	164247263	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164247263C>G	uc003iqm.1	-	c.444G>C	c.(442-444)TGG>TGC	p.W148C	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	148	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			pancreas(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.253521	44.465257	48.532205	18	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164247263	164247263	11013	4	C	G	G	G	390	30	NPY1R	3	3
DDX60	55601	broad.mit.edu	37	4	169204672	169204672	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169204672G>C	uc003irp.2	-	c.1647C>G	c.(1645-1647)GTC>GTG	p.V549V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	549							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)										0.363636	40.791617	41.331327	12	21	KEEP	---	---	---	---	capture		Silent	SNP	169204672	169204672	4549	4	G	C	C	C	418	33	DDX60	3	3
MFAP3L	9848	broad.mit.edu	37	4	170926850	170926850	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170926850T>A	uc003isp.3	-	c.179A>T	c.(178-180)GAA>GTA	p.E60V	MFAP3L_uc003isn.3_5'Flank	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	60	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.314607	70.668045	73.389934	28	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170926850	170926850	9906	4	T	A	A	A	806	62	MFAP3L	3	3
ODZ3	55714	broad.mit.edu	37	4	183675671	183675671	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183675671G>C	uc003ivd.1	+	c.4151G>C	c.(4150-4152)TGT>TCT	p.C1384S	ODZ3_uc003ive.1_Missense_Mutation_p.C797S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1384	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.448276	41.671402	41.739014	13	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183675671	183675671	11241	4	G	C	C	C	624	48	ODZ3	3	3
CYP4V2	285440	broad.mit.edu	37	4	187118127	187118127	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187118127G>T	uc003iyw.3	+	c.447G>T	c.(445-447)ATG>ATT	p.M149I		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	149					oxidation-reduction process|response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)										0.27027	27.532739	29.294719	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187118127	187118127	4357	4	G	T	T	T	624	48	CYP4V2	2	2
FAT1	2195	broad.mit.edu	37	4	187532546	187532546	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187532546T>A	uc003izf.2	-	c.9847A>T	c.(9847-9849)AAA>TAA	p.K3283*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3283	Extracellular (Potential).|Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.316667	50.902134	52.696291	19	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187532546	187532546	5925	4	T	A	A	A	793	61	FAT1	5	3
STIM2	57620	broad.mit.edu	37	4	27019510	27019510	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:27019510C>T	uc003gsh.3	+	c.1952C>T	c.(1951-1953)TCC>TTC	p.S651F	STIM2_uc003gsg.3_Missense_Mutation_p.S643F|STIM2_uc010iex.2_Missense_Mutation_p.S643F|STIM2_uc010iey.2_Missense_Mutation_p.S267F	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	556	Cytoplasmic (Potential).|His/Pro-rich.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)	1		Breast(46;0.0503)												0.139344	48.205131	78.910239	34	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27019510	27019510	15804	4	C	T	T	T	390	30	STIM2	2	2
N4BP2	55728	broad.mit.edu	37	4	40104598	40104598	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40104598G>T	uc003guy.3	+	c.1133G>T	c.(1132-1134)GGC>GTC	p.G378V	N4BP2_uc010ifq.2_Missense_Mutation_p.G298V|N4BP2_uc010ifr.2_Missense_Mutation_p.G298V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	378						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.317073	32.563175	33.781665	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40104598	40104598	10505	4	G	T	T	T	546	42	N4BP2	2	2
PIGG	54872	broad.mit.edu	37	4	527748	527748	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:527748T>C	uc003gak.3	+	c.2713T>C	c.(2713-2715)TTC>CTC	p.F905L	PIGG_uc003gaj.3_Missense_Mutation_p.F897L|PIGG_uc011bux.1_Non-coding_Transcript|PIGG_uc010ibf.2_Missense_Mutation_p.F772L|PIGG_uc003gal.3_Missense_Mutation_p.F816L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	905					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			ovary(1)|central_nervous_system(1)	2														0.210526	9.089053	10.562362	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	527748	527748	12312	4	T	C	C	C	728	56	PIGG	4	4
SRD5A3	79644	broad.mit.edu	37	4	56236014	56236014	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56236014G>C	uc003hau.2	+	c.713G>C	c.(712-714)TGT>TCT	p.C238S		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	238	Lumenal (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|oxidation-reduction process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)											0.328571	72.613822	74.431271	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56236014	56236014	15654	4	G	C	C	C	624	48	SRD5A3	3	3
KIAA1211	57482	broad.mit.edu	37	4	57182333	57182333	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57182333G>C	uc003hbk.2	+	c.2665G>C	c.(2665-2667)GCT>CCT	p.A889P	KIAA1211_uc010iha.2_Missense_Mutation_p.A882P|KIAA1211_uc011bzz.1_Missense_Mutation_p.A799P|KIAA1211_uc003hbm.1_Missense_Mutation_p.A775P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	889										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.206897	15.010828	17.263615	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57182333	57182333	8523	4	G	C	C	C	494	38	KIAA1211	3	3
EPHA5	2044	broad.mit.edu	37	4	66197760	66197760	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66197760C>A	uc011cah.1	-	c.2942G>T	c.(2941-2943)GGC>GTC	p.G981V	EPHA5_uc003hcx.2_Missense_Mutation_p.G912V|EPHA5_uc003hcy.2_Missense_Mutation_p.G980V|EPHA5_uc003hcz.2_Missense_Mutation_p.G958V|EPHA5_uc011cai.1_Missense_Mutation_p.G959V|EPHA5_uc003hda.2_Missense_Mutation_p.G981V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	980	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.42	55.754196	56.03564	21	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66197760	66197760	5363	4	C	A	A	A	338	26	EPHA5	2	2
EPHA5	2044	broad.mit.edu	37	4	66233081	66233081	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66233081C>A	uc011cah.1	-	c.1921G>T	c.(1921-1923)GGG>TGG	p.G641W	EPHA5_uc003hcx.2_Missense_Mutation_p.G572W|EPHA5_uc003hcy.2_Missense_Mutation_p.G640W|EPHA5_uc003hcz.2_Missense_Mutation_p.G618W|EPHA5_uc011cai.1_Missense_Mutation_p.G619W|EPHA5_uc003hda.2_Missense_Mutation_p.G641W	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	640	Cytoplasmic (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.2	11.205544	13.265156	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66233081	66233081	5363	4	C	A	A	A	273	21	EPHA5	2	2
AMBN	258	broad.mit.edu	37	4	71471904	71471904	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71471904C>A	uc003hfl.2	+	c.801C>A	c.(799-801)GGC>GGA	p.G267G		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	267					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)											0.333333	27.754186	28.485131	10	20	KEEP	---	---	---	---	capture		Silent	SNP	71471904	71471904	566	4	C	A	A	A	340	27	AMBN	1	1
CCDC158	339965	broad.mit.edu	37	4	77247165	77247165	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77247165C>G	uc003hkb.3	-	c.3002G>C	c.(3001-3003)AGT>ACT	p.S1001T		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1001	Ser-rich.									ovary(2)|pancreas(1)	3														0.213675	62.409558	71.270416	25	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77247165	77247165	2912	4	C	G	G	G	260	20	CCDC158	3	3
CCDC158	339965	broad.mit.edu	37	4	77288616	77288616	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77288616T>A	uc003hkb.3	-	c.1661A>T	c.(1660-1662)AAA>ATA	p.K554I		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	554	Potential.									ovary(2)|pancreas(1)	3														0.209302	19.55259	22.915479	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77288616	77288616	2912	4	T	A	A	A	832	64	CCDC158	3	3
WDFY3	23001	broad.mit.edu	37	4	85605170	85605170	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85605170A>C	uc003hpd.2	-	c.9652T>G	c.(9652-9654)TGC>GGC	p.C3218G	WDFY3_uc003hpc.2_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3218	WD 4.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.225806	14.313401	16.451768	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85605170	85605170	17842	4	A	C	C	C	91	7	WDFY3	4	4
GPR78	27201	broad.mit.edu	37	4	8588829	8588829	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8588829C>A	uc003glk.2	+	c.831C>A	c.(829-831)ATC>ATA	p.I277I	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	277	Extracellular (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														0.5	6.71958	6.71958	3	3	KEEP	---	---	---	---	capture		Silent	SNP	8588829	8588829	6985	4	C	A	A	A	382	30	GPR78	2	2
AFF1	4299	broad.mit.edu	37	4	87967859	87967859	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87967859G>T	uc011ccz.1	+	c.172G>T	c.(172-174)GAT>TAT	p.D58Y	AFF1_uc011ccx.1_5'UTR|AFF1_uc003hqh.1_Missense_Mutation_p.D58Y|AFF1_uc011ccy.1_Missense_Mutation_p.D58Y|AFF1_uc003hqj.3_Missense_Mutation_p.D51Y|AFF1_uc003hqk.3_Missense_Mutation_p.D51Y|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	51						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)						332				0.229592	218.695743	244.943211	90	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87967859	87967859	357	4	G	T	T	T	585	45	AFF1	2	2
MMRN1	22915	broad.mit.edu	37	4	90816172	90816172	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90816172G>T	uc003hst.2	+	c.50G>T	c.(49-51)GGC>GTC	p.G17V	MMRN1_uc010iku.2_Missense_Mutation_p.G17V	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	17					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.047059	-10.820192	7.619508	4	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90816172	90816172	10061	4	G	T	T	T	546	42	MMRN1	2	2
GRID2	2895	broad.mit.edu	37	4	94376988	94376988	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94376988C>T	uc011cdt.1	+	c.1721C>T	c.(1720-1722)GCT>GTT	p.A574V	GRID2_uc011cdu.1_Missense_Mutation_p.A479V	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	574	Helical; (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.259615	68.916176	74.335122	27	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94376988	94376988	7050	4	C	T	T	T	364	28	GRID2	2	2
GRID2	2895	broad.mit.edu	37	4	94436366	94436366	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94436366G>T	uc011cdt.1	+	c.1998_splice	c.e13-1	p.Q666_splice	GRID2_uc011cdu.1_Splice_Site_SNP_p.Q571_splice	NM_001510	NP_001501			glutamate receptor, ionotropic, delta 2						glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.294118	13.168034	13.813103	5	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	94436366	94436366	7050	4	G	T	T	T	455	35	GRID2	5	2
GRID2	2895	broad.mit.edu	37	4	94690559	94690559	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94690559G>C	uc011cdt.1	+	c.2559G>C	c.(2557-2559)ACG>ACC	p.T853T	GRID2_uc011cdu.1_Silent_p.T758T	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	853	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.285714	64.322695	67.493285	22	55	KEEP	---	---	---	---	capture		Silent	SNP	94690559	94690559	7050	4	G	C	C	C	509	40	GRID2	3	3
APC	324	broad.mit.edu	37	5	112177307	112177307	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112177307G>C	uc010jby.2	+	c.6016G>C	c.(6016-6018)GGC>CGC	p.G2006R	APC_uc011cvt.1_Missense_Mutation_p.G1988R|APC_uc003kpz.3_Missense_Mutation_p.G2006R|APC_uc003kpy.3_Missense_Mutation_p.G2006R|APC_uc010jbz.2_Missense_Mutation_p.G1723R|APC_uc010jca.2_Missense_Mutation_p.G1306R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2006	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.08	-1.013387	12.490089	6	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112177307	112177307	773	5	G	C	C	C	455	35	APC	3	3
KCNN2	3781	broad.mit.edu	37	5	113831826	113831826	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:113831826A>T	uc003kqo.2	+	c.1687A>T	c.(1687-1689)AGG>TGG	p.R563W	KCNN2_uc003kqp.2_Missense_Mutation_p.R215W|KCNN2_uc010jcg.2_Non-coding_Transcript	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	563	Poly-Arg.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)										0.27907	32.490814	34.372793	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113831826	113831826	8384	5	A	T	T	T	88	7	KCNN2	3	3
AP3S1	1176	broad.mit.edu	37	5	115205752	115205752	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115205752A>G	uc003krl.2	+	c.200A>G	c.(199-201)CAT>CGT	p.H67R	AP3S1_uc003krk.2_Missense_Mutation_p.H45R|AP3S1_uc003krm.2_Missense_Mutation_p.H67R	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	67					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)										0.194444	15.103914	18.239583	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115205752	115205752	759	5	A	G	G	G	104	8	AP3S1	4	4
PRR16	51334	broad.mit.edu	37	5	120022254	120022254	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:120022254C>A	uc003ksq.2	+	c.765C>A	c.(763-765)CCC>CCA	p.P255P	PRR16_uc003ksp.2_Silent_p.P232P|PRR16_uc003ksr.2_Silent_p.P185P	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	255	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)										0.164179	19.782111	26.958782	11	56	KEEP	---	---	---	---	capture		Silent	SNP	120022254	120022254	13032	5	C	A	A	A	275	22	PRR16	2	2
LMNB1	4001	broad.mit.edu	37	5	126161782	126161782	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126161782A>T	uc003kud.1	+	c.1594A>T	c.(1594-1596)AAA>TAA	p.K532*	LMNB1_uc010jdb.1_Non-coding_Transcript|LMNB1_uc011cxb.1_Nonsense_Mutation_p.K322*	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	532	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)						192				0.6	19.351702	19.43912	6	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	126161782	126161782	9178	5	A	T	T	T	117	9	LMNB1	5	3
PRRC1	133619	broad.mit.edu	37	5	126860319	126860319	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126860319G>C	uc003kuk.2	+	c.200G>C	c.(199-201)AGG>ACG	p.R67T	PRRC1_uc003kuj.3_Missense_Mutation_p.R67T	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	67	Pro-rich.					Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)										0.175	36.705216	48.66619	21	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126860319	126860319	13053	5	G	C	C	C	455	35	PRRC1	3	3
FBN2	2201	broad.mit.edu	37	5	127645783	127645783	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127645783C>A	uc003kuu.2	-	c.5092G>T	c.(5092-5094)GCA>TCA	p.A1698S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1698	EGF-like 28; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.254237	37.116915	40.338505	15	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127645783	127645783	5939	5	C	A	A	A	325	25	FBN2	2	2
TRPC7	57113	broad.mit.edu	37	5	135587494	135587494	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135587494T>C	uc003lbn.1	-	c.1419A>G	c.(1417-1419)CTA>CTG	p.L473L	TRPC7_uc010jef.1_Silent_p.L410L|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Silent_p.L404L|TRPC7_uc010jei.1_Silent_p.L349L|TRPC7_uc010jej.1_Silent_p.L25L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	474	Helical; (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.214286	21.353399	24.519799	9	33	KEEP	---	---	---	---	capture		Silent	SNP	135587494	135587494	17135	5	T	C	C	C	678	53	TRPC7	4	4
EGR1	1958	broad.mit.edu	37	5	137803056	137803056	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137803056C>G	uc003ldb.1	+	c.918C>G	c.(916-918)GCC>GCG	p.A306A	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	306					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glomerular metanephric mesangial cell proliferation|regulation of protein sumoylation|type I interferon-mediated signaling pathway	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)											0.092105	1.069041	13.804294	7	69	KEEP	---	---	---	---	capture		Silent	SNP	137803056	137803056	5160	5	C	G	G	G	275	22	EGR1	3	3
PCDHA2	56146	broad.mit.edu	37	5	140176248	140176248	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140176248G>T	uc003lhd.2	+	c.1699G>T	c.(1699-1701)GCG>TCG	p.A567S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A567S|PCDHA2_uc011czy.1_Missense_Mutation_p.A567S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	567	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.108696	3.132758	10.047519	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140176248	140176248	11944	5	G	T	T	T	546	42	PCDHA2	2	2
PCDHA8	56140	broad.mit.edu	37	5	140221203	140221203	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140221203C>G	uc003lhs.2	+	c.297C>G	c.(295-297)AGC>AGG	p.S99R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S99R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	99	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.263158	27.039108	28.899892	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140221203	140221203	11950	5	C	G	G	G	350	27	PCDHA8	3	3
PCDHAC1	56135	broad.mit.edu	37	5	140306846	140306846	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140306846C>T	uc003lih.2	+	c.369C>T	c.(367-369)CTC>CTT	p.L123L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L123L	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	123	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.12766	8.042651	14.37369	6	41	KEEP	---	---	---	---	capture		Silent	SNP	140306846	140306846	11952	5	C	T	T	T	405	32	PCDHAC1	2	2
PCDHB16	57717	broad.mit.edu	37	5	140563361	140563361	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140563361C>A	uc003liv.2	+	c.1227C>A	c.(1225-1227)CTC>CTA	p.L409L	PCDHB16_uc010jfw.1_Silent_p.L81L	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	409	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.3	40.805881	42.536331	15	35	KEEP	---	---	---	---	capture		Silent	SNP	140563361	140563361	11961	5	C	A	A	A	392	31	PCDHB16	1	1
PCDHB12	56124	broad.mit.edu	37	5	140590108	140590108	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140590108C>A	uc003liz.2	+	c.1629C>A	c.(1627-1629)AGC>AGA	p.S543R	PCDHB12_uc011dak.1_Missense_Mutation_p.S206R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	543	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.217391	10.769322	12.459236	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140590108	140590108	11957	5	C	A	A	A	350	27	PCDHB12	1	1
PCDHB15	56121	broad.mit.edu	37	5	140625448	140625448	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140625448C>T	uc003lje.2	+	c.302C>T	c.(301-303)CCC>CTC	p.P101L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	101	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.172414	17.403393	23.313662	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140625448	140625448	11960	5	C	T	T	T	286	22	PCDHB15	2	2
PCDHGA4	56111	broad.mit.edu	37	5	140736948	140736948	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736948T>A	uc003ljq.1	+	c.2181T>A	c.(2179-2181)GCT>GCA	p.A727A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Silent_p.A727A|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	727	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.266667	9.693561	10.431398	4	11	KEEP	---	---	---	---	capture		Silent	SNP	140736948	140736948	11976	5	T	A	A	A	704	55	PCDHGA4	3	3
PCDHGA7	56108	broad.mit.edu	37	5	140763581	140763581	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140763581A>G	uc003lka.1	+	c.1115A>G	c.(1114-1116)CAA>CGA	p.Q372R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.Q372R	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	372	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.307692	12.495387	12.923797	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140763581	140763581	11979	5	A	G	G	G	65	5	PCDHGA7	4	4
PCDHGA8	9708	broad.mit.edu	37	5	140772616	140772616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140772616C>A	uc003lkd.1	+	c.236C>A	c.(235-237)CCG>CAG	p.P79Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.P79Q	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	79	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.307692	22.205711	23.054638	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140772616	140772616	11980	5	C	A	A	A	299	23	PCDHGA8	1	1
PCDHGA9	56107	broad.mit.edu	37	5	140782984	140782984	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140782984A>G	uc003lkh.1	+	c.465A>G	c.(463-465)CCA>CCG	p.P155P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.P155P	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	155	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.288462	42.901737	44.989447	15	37	KEEP	---	---	---	---	capture		Silent	SNP	140782984	140782984	11981	5	A	G	G	G	80	7	PCDHGA9	4	4
FGF1	2246	broad.mit.edu	37	5	141993534	141993534	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141993534G>A	uc003lmm.2	-	c.159C>T	c.(157-159)AGC>AGT	p.S53S	FGF1_uc011dbi.1_Silent_p.S53S|FGF1_uc003lmn.3_Silent_p.S53S|FGF1_uc003lmp.3_Silent_p.S53S|FGF1_uc003lmq.2_Silent_p.S53S|FGF1_uc010jgj.2_Silent_p.S53S|FGF1_uc003lmr.2_Silent_p.S53S|FGF1_uc003lms.3_Silent_p.S53S	NM_001144892	NP_001138364	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic) isoform 1	53					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of intracellular protein kinase cascade	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding				0		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)					172				0.196078	19.924545	24.31746	10	41	KEEP	---	---	---	---	capture		Silent	SNP	141993534	141993534	6075	5	G	A	A	A	490	38	FGF1	1	1
KCTD16	57528	broad.mit.edu	37	5	143586460	143586460	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:143586460G>T	uc003lnm.1	+	c.183G>T	c.(181-183)ACG>ACT	p.T61T	KCTD16_uc003lnn.1_Silent_p.T61T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	61	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)	3		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)											0.243902	23.530501	25.981321	10	31	KEEP	---	---	---	---	capture		Silent	SNP	143586460	143586460	8409	5	G	T	T	T	496	39	KCTD16	1	1
TRIO	7204	broad.mit.edu	37	5	14508072	14508072	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14508072G>T	uc003jff.2	+	c.8835G>T	c.(8833-8835)ACG>ACT	p.T2945T	TRIO_uc003jfg.2_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2945	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.085714	1.30162	7.386951	3	32	KEEP	---	---	---	---	capture		Silent	SNP	14508072	14508072	17102	5	G	T	T	T	470	37	TRIO	1	1
FBXL7	23194	broad.mit.edu	37	5	15937230	15937230	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15937230C>A	uc003jfn.1	+	c.1411C>A	c.(1411-1413)CTG>ATG	p.L471M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	471					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.214286	13.532816	15.645486	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15937230	15937230	5961	5	C	A	A	A	311	24	FBXL7	2	2
MARCH11	441061	broad.mit.edu	37	5	16067613	16067613	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16067613C>A	uc003jfo.2	-	c.1176G>T	c.(1174-1176)TCG>TCT	p.S392S	MARCH11_uc010itw.1_Silent_p.S148S	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	392						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.241546	129.51573	142.08182	50	157	KEEP	---	---	---	---	capture		Silent	SNP	16067613	16067613	9683	5	C	A	A	A	288	23	MARCH11	1	1
GABRA6	2559	broad.mit.edu	37	5	161116055	161116055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161116055G>T	uc003lyu.2	+	c.326G>T	c.(325-327)AGT>ATT	p.S109I	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	109	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.22449	56.505072	63.335832	22	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161116055	161116055	6416	5	G	T	T	T	468	36	GABRA6	2	2
ODZ2	57451	broad.mit.edu	37	5	167625938	167625938	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167625938T>A	uc010jjd.2	+	c.2954T>A	c.(2953-2955)GTG>GAG	p.V985E	ODZ2_uc003lzr.3_Missense_Mutation_p.V762E|ODZ2_uc003lzt.3_Missense_Mutation_p.V358E|ODZ2_uc010jje.2_Missense_Mutation_p.V256E	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.295455	31.833675	33.498212	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167625938	167625938	11240	5	T	A	A	A	767	59	ODZ2	3	3
ODZ2	57451	broad.mit.edu	37	5	167689373	167689373	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167689373A>T	uc010jjd.2	+	c.7856A>T	c.(7855-7857)GAT>GTT	p.D2619V	ODZ2_uc003lzr.3_Missense_Mutation_p.D2389V|ODZ2_uc003lzt.3_Missense_Mutation_p.D1992V|ODZ2_uc010jje.2_Missense_Mutation_p.D1883V	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.555556	16.976422	17.000701	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167689373	167689373	11240	5	A	T	T	T	156	12	ODZ2	3	3
DOCK2	1794	broad.mit.edu	37	5	169126444	169126444	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169126444G>A	uc003maf.2	+	c.1114G>A	c.(1114-1116)GGG>AGG	p.G372R	DOCK2_uc011der.1_Non-coding_Transcript|DOCK2_uc010jjl.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	372					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)											0.3	25.561317	26.634785	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169126444	169126444	4871	5	G	A	A	A	559	43	DOCK2	2	2
HK3	3101	broad.mit.edu	37	5	176315824	176315824	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176315824A>G	uc003mfa.2	-	c.956T>C	c.(955-957)GTG>GCG	p.V319A	HK3_uc003mez.2_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	319	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.4	14.843758	14.975681	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176315824	176315824	7483	5	A	G	G	G	78	6	HK3	4	4
FGFR4	2264	broad.mit.edu	37	5	176516639	176516639	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176516639G>T	uc003mfl.2	+	c.36G>T	c.(34-36)CTG>CTT	p.L12L	FGFR4_uc003mfm.2_Silent_p.L12L|FGFR4_uc011dfu.1_Silent_p.L12L|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.L12L|FGFR4_uc011dfw.1_Silent_p.L12L|FGFR4_uc003mfo.2_Silent_p.L12L	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	12					insulin receptor signaling pathway|positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(10)|breast(1)|central_nervous_system(1)|skin(1)	13	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)					219	TSP Lung(9;0.080)			0.25	12.565537	13.701701	5	15	KEEP	---	---	---	---	capture		Silent	SNP	176516639	176516639	6105	5	G	T	T	T	574	45	FGFR4	2	2
SLC1A3	6507	broad.mit.edu	37	5	36671276	36671276	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36671276G>T	uc003jkj.3	+	c.465G>T	c.(463-465)ATG>ATT	p.M155I	SLC1A3_uc011cox.1_Missense_Mutation_p.M48I|SLC1A3_uc010iuy.2_Missense_Mutation_p.M155I	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	155	Extracellular (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.189655	21.487862	26.71695	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36671276	36671276	14929	5	G	T	T	T	598	46	SLC1A3	2	2
FYB	2533	broad.mit.edu	37	5	39202016	39202016	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39202016G>T	uc011cpl.1	-	c.1077C>A	c.(1075-1077)CCC>CCA	p.P359P	FYB_uc003jls.2_Silent_p.P349P|FYB_uc003jlt.2_Silent_p.P349P|FYB_uc003jlu.2_Silent_p.P349P	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	349	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.296296	65.870832	68.875458	24	57	KEEP	---	---	---	---	capture		Silent	SNP	39202016	39202016	6375	5	G	T	T	T	444	35	FYB	2	2
FYB	2533	broad.mit.edu	37	5	39203010	39203010	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39203010C>A	uc011cpl.1	-	c.83G>T	c.(82-84)AGC>ATC	p.S28I	FYB_uc003jls.2_Missense_Mutation_p.S18I|FYB_uc003jlt.2_Missense_Mutation_p.S18I|FYB_uc003jlu.2_Missense_Mutation_p.S18I	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	18					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.342342	102.587533	105.038644	38	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39203010	39203010	6375	5	C	A	A	A	364	28	FYB	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41065564	41065564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41065564C>A	uc003jmj.3	-	c.230G>T	c.(229-231)GGT>GTT	p.G77V		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	77							binding			ovary(6)|central_nervous_system(2)	8														0.272152	111.249823	118.648633	43	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41065564	41065564	7318	5	C	A	A	A	234	18	HEATR7B2	2	2
HMGCS1	3157	broad.mit.edu	37	5	43298869	43298869	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43298869A>C	uc003jnr.3	-	c.199T>G	c.(199-201)TCT>GCT	p.S67A	HMGCS1_uc003jnq.3_Missense_Mutation_p.S67A	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	67					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.338235	57.884386	59.467379	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43298869	43298869	7523	5	A	C	C	C	143	11	HMGCS1	4	4
ITGA2	3673	broad.mit.edu	37	5	52340915	52340915	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52340915G>C	uc003joy.2	+	c.380G>C	c.(379-381)GGT>GCT	p.G127A	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.G51A|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	127	Extracellular (Potential).|FG-GAP 2.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.25	29.738568	32.005504	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52340915	52340915	8179	5	G	C	C	C	572	44	ITGA2	3	3
RAB3C	115827	broad.mit.edu	37	5	58120941	58120941	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:58120941G>T	uc003jrp.2	+	c.448G>T	c.(448-450)GAG>TAG	p.E150*		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	150					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)										0.212766	47.256618	54.417134	20	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58120941	58120941	13392	5	G	T	T	T	481	37	RAB3C	5	1
HTR1A	3350	broad.mit.edu	37	5	63256623	63256623	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63256623G>T	uc011cqt.1	-	c.924C>A	c.(922-924)CCC>CCA	p.P308P		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	308	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.482759	41.64708	41.65458	14	15	KEEP	---	---	---	---	capture		Silent	SNP	63256623	63256623	7736	5	G	T	T	T	600	47	HTR1A	2	2
ADAMTS6	11174	broad.mit.edu	37	5	64747992	64747992	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64747992C>G	uc003jtp.2	-	c.895G>C	c.(895-897)GTG>CTG	p.V299L	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	299	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.102564	4.169349	10.309566	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64747992	64747992	271	5	C	G	G	G	260	20	ADAMTS6	3	3
SV2C	22987	broad.mit.edu	37	5	75427754	75427754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75427754C>A	uc003kei.1	+	c.179C>A	c.(178-180)CCG>CAG	p.P60Q		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	60	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)										0.2875	63.350206	66.557409	23	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75427754	75427754	15939	5	C	A	A	A	299	23	SV2C	1	1
ADCY2	108	broad.mit.edu	37	5	7626395	7626395	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7626395C>A	uc003jdz.1	+	c.686C>A	c.(685-687)TCG>TAG	p.S229*		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	229	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.23913	29.70797	32.561903	11	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7626395	7626395	295	5	C	A	A	A	403	31	ADCY2	5	1
ADCY2	108	broad.mit.edu	37	5	7626402	7626402	+	Silent	SNP	C	A	A	rs6865872		TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7626402C>A	uc003jdz.1	+	c.693C>A	c.(691-693)ATC>ATA	p.I231I		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	231	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.227273	23.925908	26.93049	10	34	KEEP	---	---	---	---	capture		Silent	SNP	7626402	7626402	295	5	C	A	A	A	369	29	ADCY2	2	2
SPZ1	84654	broad.mit.edu	37	5	79616477	79616477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79616477C>A	uc003kgn.2	+	c.443C>A	c.(442-444)ACC>AAC	p.T148N		NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)										0.28125	46.321411	49.074937	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79616477	79616477	15641	5	C	A	A	A	234	18	SPZ1	2	2
VCAN	1462	broad.mit.edu	37	5	82817274	82817274	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82817274G>T	uc003kii.3	+	c.3149G>T	c.(3148-3150)AGT>ATT	p.S1050I	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S1050I|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1050	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.243902	25.828907	28.279759	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82817274	82817274	17703	5	G	T	T	T	468	36	VCAN	2	2
VCAN	1462	broad.mit.edu	37	5	82837181	82837181	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837181C>T	uc003kii.3	+	c.8359C>T	c.(8359-8361)CTT>TTT	p.L2787F	VCAN_uc003kij.3_Missense_Mutation_p.L1800F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.L1451F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2787	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.313433	59.975584	62.037811	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82837181	82837181	17703	5	C	T	T	T	312	24	VCAN	2	2
HAPLN1	1404	broad.mit.edu	37	5	82948296	82948296	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82948296C>G	uc003kim.2	-	c.448G>C	c.(448-450)GTT>CTT	p.V150L	HAPLN1_uc003kin.2_Missense_Mutation_p.V150L	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	150	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)	4		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)						115				0.125	13.85313	22.646238	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82948296	82948296	7236	5	C	G	G	G	221	17	HAPLN1	3	3
EDIL3	10085	broad.mit.edu	37	5	83362356	83362356	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83362356C>A	uc003kio.1	-	c.721G>T	c.(721-723)GAG>TAG	p.E241*	EDIL3_uc003kip.1_Nonsense_Mutation_p.E231*|EDIL3_uc011ctt.1_Nonsense_Mutation_p.E18*	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	241	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.242424	19.68257	21.679645	8	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83362356	83362356	5102	5	C	A	A	A	416	32	EDIL3	5	2
SEMA5A	9037	broad.mit.edu	37	5	9238004	9238004	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9238004T>A	uc003jek.2	-	c.271_splice	c.e6-1	p.A91_splice		NM_003966	NP_003957			semaphorin 5A precursor						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.305085	51.240071	53.232855	18	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9238004	9238004	14523	5	T	A	A	A	715	55	SEMA5A	5	3
GRIK2	2898	broad.mit.edu	37	6	102074322	102074322	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102074322A>T	uc003pqp.3	+	c.351A>T	c.(349-351)GCA>GCT	p.A117A	GRIK2_uc003pqn.2_Silent_p.A117A|GRIK2_uc003pqo.3_Silent_p.A117A|GRIK2_uc010kcw.2_Silent_p.A117A	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	117	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)|breast(1)|pancreas(1)	4		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)									0.288591	117.5977	123.54842	43	106	KEEP	---	---	---	---	capture		Silent	SNP	102074322	102074322	7053	6	A	T	T	T	80	7	GRIK2	3	3
GRIK2	2898	broad.mit.edu	37	6	102483424	102483424	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102483424G>C	uc003pqp.3	+	c.2294G>C	c.(2293-2295)GGC>GCC	p.G765A	GRIK2_uc003pqo.3_Missense_Mutation_p.G765A|GRIK2_uc010kcw.2_Missense_Mutation_p.G765A	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	765	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)|breast(1)|pancreas(1)	4		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)									0.195122	52.134585	62.795386	24	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102483424	102483424	7053	6	G	C	C	C	546	42	GRIK2	3	3
AIM1	202	broad.mit.edu	37	6	106975228	106975228	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106975228A>G	uc003prh.2	+	c.3237A>G	c.(3235-3237)TTA>TTG	p.L1079L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1079	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)						659				0.231579	63.804479	70.071141	22	73	KEEP	---	---	---	---	capture		Silent	SNP	106975228	106975228	433	6	A	G	G	G	193	15	AIM1	4	4
SOBP	55084	broad.mit.edu	37	6	107956353	107956353	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107956353G>C	uc003prx.2	+	c.2305G>C	c.(2305-2307)GAG>CAG	p.E769Q		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	769							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)										0.428571	9.023707	9.054896	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107956353	107956353	15412	6	G	C	C	C	429	33	SOBP	3	3
RFX6	222546	broad.mit.edu	37	6	117248703	117248703	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117248703G>A	uc003pxm.2	+	c.2398_splice	c.e17+1	p.G800_splice		NM_173560	NP_775831			regulatory factor X, 6						glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.28	19.414453	20.502229	7	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	117248703	117248703	13739	6	G	A	A	A	572	44	RFX6	5	2
ENPP1	5167	broad.mit.edu	37	6	132171233	132171233	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132171233G>T	uc011ecf.1	+	c.417G>T	c.(415-417)ACG>ACT	p.T139T		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	139	SMB 1.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|regulation of bone mineralization|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			ovary(2)	2	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	Colon(104;336 1535 5856 11019 33782)								0.277778	42.706369	45.102768	15	39	KEEP	---	---	---	---	capture		Silent	SNP	132171233	132171233	5322	6	G	T	T	T	509	40	ENPP1	1	1
TAAR6	319100	broad.mit.edu	37	6	132891786	132891786	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132891786C>T	uc011eck.1	+	c.326C>T	c.(325-327)ACC>ATC	p.T109I		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	109	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)	2	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)										0.183333	43.315716	54.609584	22	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132891786	132891786	16013	6	C	T	T	T	234	18	TAAR6	2	2
VNN2	8875	broad.mit.edu	37	6	133072510	133072510	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133072510G>A	uc003qdt.2	-	c.974C>T	c.(973-975)ACC>ATC	p.T325I	VNN2_uc003qds.2_Missense_Mutation_p.T34I|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.T272I	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	325	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)										0.336364	99.794729	102.374561	37	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133072510	133072510	17750	6	G	A	A	A	572	44	VNN2	2	2
TBC1D7	51256	broad.mit.edu	37	6	13307837	13307837	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:13307837T>A	uc003naj.2	-	c.660A>T	c.(658-660)TTA>TTT	p.L220F	TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Missense_Mutation_p.L220F|TBC1D7_uc003nal.2_Missense_Mutation_p.L220F|TBC1D7_uc003nam.2_Missense_Mutation_p.L220F|TBC1D7_uc003nao.2_Missense_Mutation_p.L193F|TBC1D7_uc010jpd.2_Missense_Mutation_p.L174F|TBC1D7_uc003nap.2_Missense_Mutation_p.L193F	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	220	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)											0.316456	67.742242	70.111732	25	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13307837	13307837	16150	6	T	A	A	A	738	57	TBC1D7	3	3
SGK1	6446	broad.mit.edu	37	6	134583133	134583133	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:134583133G>C	uc003qeo.3	-	c.223C>G	c.(223-225)CAA>GAA	p.Q75E	SGK1_uc003qep.2_Missense_Mutation_p.Q75E	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	Error:Variant_position_missing_in_O00141_after_alignment					apoptosis|protein phosphorylation|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|central_nervous_system(1)	3	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)						161				0.237288	70.872321	78.29313	28	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134583133	134583133	14698	6	G	C	C	C	611	47	SGK1	3	3
ECT2L	345930	broad.mit.edu	37	6	139197684	139197684	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139197684C>G	uc003qif.1	+	c.1654C>G	c.(1654-1656)CTG>GTG	p.L552V	ECT2L_uc011edq.1_Missense_Mutation_p.L483V	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	552					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0														0.217391	13.762286	15.455931	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139197684	139197684	5089	6	C	G	G	G	259	20	ECT2L	3	3
TXLNB	167838	broad.mit.edu	37	6	139564275	139564275	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139564275G>T	uc011eds.1	-	c.1443C>A	c.(1441-1443)AAC>AAA	p.N481K		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	481						cytoplasm				large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)										0.207317	37.409366	43.952687	17	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139564275	139564275	17344	6	G	T	T	T	516	40	TXLNB	1	1
HIVEP2	3097	broad.mit.edu	37	6	143081224	143081224	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143081224T>C	uc003qjd.2	-	c.6201A>G	c.(6199-6201)AAA>AAG	p.K2067K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2067	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		Esophageal Squamous(107;843 1510 13293 16805 42198)								0.31746	55.648557	57.592178	20	43	KEEP	---	---	---	---	capture		Silent	SNP	143081224	143081224	7478	6	T	C	C	C	725	56	HIVEP2	4	4
TIAM2	26230	broad.mit.edu	37	6	155450889	155450889	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155450889C>G	uc003qqb.2	+	c.532C>G	c.(532-534)CAC>GAC	p.H178D	TIAM2_uc003qqe.2_Missense_Mutation_p.H178D	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	178					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.166667	11.899499	16.334356	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155450889	155450889	16419	6	C	G	G	G	273	21	TIAM2	3	3
IGF2R	3482	broad.mit.edu	37	6	160494822	160494822	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160494822G>T	uc003qta.2	+	c.4981G>T	c.(4981-4983)GTT>TTT	p.V1661F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1661	11.|Lumenal (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)										0.4	45.462725	45.819311	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160494822	160494822	7877	6	G	T	T	T	624	48	IGF2R	2	2
QKI	9444	broad.mit.edu	37	6	163983052	163983052	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:163983052G>T	uc003qui.2	+	c.585G>T	c.(583-585)ATG>ATT	p.M195I	QKI_uc003que.2_Missense_Mutation_p.M195I|QKI_uc003quf.2_Missense_Mutation_p.M195I|QKI_uc003qug.2_Missense_Mutation_p.M195I|QKI_uc003quh.2_Missense_Mutation_p.M195I|QKI_uc003quj.2_Missense_Mutation_p.M195I	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	195					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)										0.447059	117.739176	117.946728	38	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163983052	163983052	13331	6	G	T	T	T	611	47	QKI	2	2
C6orf118	168090	broad.mit.edu	37	6	165703510	165703510	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165703510A>T	uc003qum.3	-	c.1167T>A	c.(1165-1167)ACT>ACA	p.T389T	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	389											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.37037	29.842747	30.241462	10	17	KEEP	---	---	---	---	capture		Silent	SNP	165703510	165703510	2425	6	A	T	T	T	80	7	C6orf118	3	3
PDE10A	10846	broad.mit.edu	37	6	165863795	165863795	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165863795T>C	uc003quo.2	-	c.281A>G	c.(280-282)CAA>CGA	p.Q94R	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.Q14R|PDE10A_uc003qun.2_Missense_Mutation_p.Q84R	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	84					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.245283	27.944621	31.080816	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165863795	165863795	12051	6	T	C	C	C	819	63	PDE10A	4	4
TTLL2	83887	broad.mit.edu	37	6	167754758	167754758	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167754758C>T	uc003qvs.1	+	c.1370C>T	c.(1369-1371)TCT>TTT	p.S457F	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	457					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.416667	63.208853	63.495045	20	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167754758	167754758	17282	6	C	T	T	T	416	32	TTLL2	2	2
KIAA0319	9856	broad.mit.edu	37	6	24554859	24554859	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24554859T>C	uc011djo.1	-	c.2858A>G	c.(2857-2859)GAG>GGG	p.E953G	KIAA0319_uc011djp.1_Missense_Mutation_p.E908G|KIAA0319_uc003neh.1_Missense_Mutation_p.E953G|KIAA0319_uc011djq.1_Missense_Mutation_p.E944G|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Missense_Mutation_p.E364G	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	953	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)	1														0.063492	-3.732918	8.748185	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24554859	24554859	8475	6	T	C	C	C	702	54	KIAA0319	4	4
SLC17A2	10246	broad.mit.edu	37	6	25921243	25921243	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25921243C>G	uc003nfl.2	-	c.553G>C	c.(553-555)GCA>CCA	p.A185P	SLC17A2_uc011dkb.1_Missense_Mutation_p.A185P|SLC17A2_uc011dkc.1_Missense_Mutation_p.A185P	NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	185	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.19697	31.739311	37.382975	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25921243	25921243	14913	6	C	G	G	G	325	25	SLC17A2	3	3
HIST1H3E	8353	broad.mit.edu	37	6	26225652	26225652	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26225652G>A	uc003nhb.2	+	c.270G>A	c.(268-270)GTG>GTA	p.V90V	HIST1H3E_uc003nhc.3_Silent_p.V90V	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	90					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)										OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.5	82.697592	82.697592	28	28	KEEP	---	---	---	---	capture		Silent	SNP	26225652	26225652	7444	6	G	A	A	A	574	45	HIST1H3E	2	2
HIST1H2BH	8345	broad.mit.edu	37	6	26251885	26251885	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26251885G>C	uc003nhh.2	+	c.7G>C	c.(7-9)GAT>CAT	p.D3H	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	3					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3														0.138889	9.467917	13.989674	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26251885	26251885	7432	6	G	C	C	C	585	45	HIST1H2BH	3	3
DNAH8	1769	broad.mit.edu	37	6	38976746	38976746	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38976746G>C	uc003ooe.1	+	c.12720G>C	c.(12718-12720)GAG>GAC	p.E4240D		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	4240					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.369048	82.559096	83.802543	31	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976746	38976746	4790	6	G	C	C	C	451	35	DNAH8	3	3
DAAM2	23500	broad.mit.edu	37	6	39841121	39841121	+	Silent	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39841121G>C	uc003oow.2	+	c.1152G>C	c.(1150-1152)CTG>CTC	p.L384L	DAAM2_uc010jxc.2_Silent_p.L384L|DAAM2_uc003oox.2_Silent_p.L384L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	384	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)													0.25	13.854638	15.502574	7	21	KEEP	---	---	---	---	capture		Silent	SNP	39841121	39841121	4382	6	G	C	C	C	587	46	DAAM2	3	3
SPATS1	221409	broad.mit.edu	37	6	44328186	44328186	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44328186C>A	uc003oxk.2	+	c.291C>A	c.(289-291)ACC>ACA	p.T97T	SPATS1_uc003oxg.2_Non-coding_Transcript|SPATS1_uc010jzb.2_5'UTR	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	97											0	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.306122	41.305599	42.948742	15	34	KEEP	---	---	---	---	capture		Silent	SNP	44328186	44328186	15528	6	C	A	A	A	262	21	SPATS1	2	2
PKHD1	5314	broad.mit.edu	37	6	51512866	51512866	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51512866T>A	uc003pah.1	-	c.11361A>T	c.(11359-11361)TCA>TCT	p.S3787S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3787	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.226667	42.632244	47.779843	17	58	KEEP	---	---	---	---	capture		Silent	SNP	51512866	51512866	12396	6	T	A	A	A	704	55	PKHD1	3	3
PKHD1	5314	broad.mit.edu	37	6	51774220	51774220	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51774220C>A	uc003pah.1	-	c.6543G>T	c.(6541-6543)AGG>AGT	p.R2181S	PKHD1_uc010jzn.1_Missense_Mutation_p.R206S|PKHD1_uc003pai.2_Missense_Mutation_p.R2181S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2181	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.369565	187.547566	190.219912	68	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51774220	51774220	12396	6	C	A	A	A	285	22	PKHD1	2	2
KHDRBS2	202559	broad.mit.edu	37	6	62757888	62757888	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62757888C>A	uc003peg.2	-	c.231G>T	c.(229-231)GTG>GTT	p.V77V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	77	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.222222	34.214568	38.687859	14	49	KEEP	---	---	---	---	capture		Silent	SNP	62757888	62757888	8453	6	C	A	A	A	262	21	KHDRBS2	2	2
EYS	346007	broad.mit.edu	37	6	66115184	66115184	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66115184A>C	uc011dxu.1	-	c.939T>G	c.(937-939)AGT>AGG	p.S313R	EYS_uc003peq.2_Missense_Mutation_p.S313R|EYS_uc003per.1_Missense_Mutation_p.S313R	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	313					response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.202532	80.718215	93.697196	32	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66115184	66115184	5526	6	A	C	C	C	24	2	EYS	4	4
COL9A1	1297	broad.mit.edu	37	6	70981386	70981386	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70981386G>T	uc003pfg.3	-	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	COL9A1_uc003pfe.3_De_novo_Start_OutOfFrame|COL9A1_uc003pff.3_Missense_Mutation_p.P129H	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	372	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.4	29.345479	29.563882	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70981386	70981386	3845	6	G	T	T	T	455	35	COL9A1	2	2
TTK	7272	broad.mit.edu	37	6	80715696	80715696	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80715696A>G	uc003pjc.2	+	c.136A>G	c.(136-138)ACA>GCA	p.T46A	TTK_uc003pjb.3_Missense_Mutation_p.T46A	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	46					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.183673	20.647944	25.247769	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80715696	80715696	17275	6	A	G	G	G	182	14	TTK	4	4
RNGTT	8732	broad.mit.edu	37	6	89324082	89324082	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89324082T>A	uc003pmr.2	-	c.1539A>T	c.(1537-1539)AAA>AAT	p.K513N	RNGTT_uc003pms.2_Missense_Mutation_p.K490N|RNGTT_uc011dzu.1_Missense_Mutation_p.K430N	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	513	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)										0.097561	2.17105	8.819363	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89324082	89324082	13982	6	T	A	A	A	829	64	RNGTT	3	3
FUT9	10690	broad.mit.edu	37	6	96651790	96651790	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651790C>A	uc003pop.3	+	c.759C>A	c.(757-759)ATC>ATA	p.I253I		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	253	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.269231	18.1124	19.362574	7	19	KEEP	---	---	---	---	capture		Silent	SNP	96651790	96651790	6362	6	C	A	A	A	369	29	FUT9	2	2
FUT9	10690	broad.mit.edu	37	6	96651918	96651918	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651918G>A	uc003pop.3	+	c.887G>A	c.(886-888)AGT>AAT	p.S296N		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	296	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.342105	37.661997	38.499736	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96651918	96651918	6362	6	G	A	A	A	468	36	FUT9	2	2
ZAN	7455	broad.mit.edu	37	7	100334679	100334679	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100334679C>A	uc003uwj.2	+	c.501C>A	c.(499-501)CCC>CCA	p.P167P	ZAN_uc003uwk.2_Silent_p.P167P|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	167	MAM 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.230769	7.419344	8.282117	3	10	KEEP	---	---	---	---	capture		Silent	SNP	100334679	100334679	18096	7	C	A	A	A	288	23	ZAN	1	1
MUC17	140453	broad.mit.edu	37	7	100678478	100678478	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100678478A>G	uc003uxp.1	+	c.3781A>G	c.(3781-3783)ACA>GCA	p.T1261A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1261	Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.242424	75.789097	83.939549	32	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100678478	100678478	10368	7	A	G	G	G	182	14	MUC17	4	4
MUC17	140453	broad.mit.edu	37	7	100685357	100685357	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100685357G>C	uc003uxp.1	+	c.10660G>C	c.(10660-10662)GCC>CCC	p.A3554P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3554	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.377358	60.031814	60.71425	20	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100685357	100685357	10368	7	G	C	C	C	442	34	MUC17	3	3
EMID2	136227	broad.mit.edu	37	7	101200760	101200760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101200760G>T	uc010lhy.1	+	c.1270G>T	c.(1270-1272)GGG>TGG	p.G424W	EMID2_uc003uyo.1_3'UTR	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	426						collagen				ovary(1)	1	Lung NSC(181;0.215)													0.266667	8.985136	9.730121	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101200760	101200760	5284	7	G	T	T	T	607	47	EMID2	2	2
CUX1	1523	broad.mit.edu	37	7	101882787	101882787	+	Silent	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101882787A>T	uc003uys.3	+	c.3843A>T	c.(3841-3843)TCA>TCT	p.S1281S	CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyx.3_Silent_p.S1270S	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1270	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.266667	29.991476	32.199767	12	33	KEEP	---	---	---	---	capture		Silent	SNP	101882787	101882787	4224	7	A	T	T	T	67	6	CUX1	3	3
SLC26A5	375611	broad.mit.edu	37	7	103018953	103018953	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103018953C>A	uc003vbz.2	-	c.1725G>T	c.(1723-1725)ATG>ATT	p.M575I	SLC26A5_uc003vbt.1_Missense_Mutation_p.M575I|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Non-coding_Transcript|SLC26A5_uc003vbx.2_Missense_Mutation_p.M543I|SLC26A5_uc003vby.2_Non-coding_Transcript|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	575	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.248366	96.473045	105.288786	38	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103018953	103018953	15017	7	C	A	A	A	325	25	SLC26A5	2	2
RELN	5649	broad.mit.edu	37	7	103185706	103185706	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103185706G>T	uc003vca.2	-	c.6388C>A	c.(6388-6390)CCC>ACC	p.P2130T	RELN_uc010liz.2_Missense_Mutation_p.P2130T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2130	EGF-like 5.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.138889	5.47468	9.996695	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103185706	103185706	13689	7	G	T	T	T	533	41	RELN	2	2
DLD	1738	broad.mit.edu	37	7	107557322	107557322	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107557322A>T	uc003vet.2	+	c.959A>T	c.(958-960)AAG>ATG	p.K320M	DLD_uc011kmg.1_Missense_Mutation_p.K272M|DLD_uc011kmh.1_Missense_Mutation_p.K297M|DLD_uc011kmi.1_Missense_Mutation_p.K221M	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	320					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)									0.149254	16.301999	24.214083	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107557322	107557322	4731	7	A	T	T	T	39	3	DLD	3	3
LAMB4	22798	broad.mit.edu	37	7	107688431	107688431	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107688431C>A	uc010ljo.1	-	c.4248G>T	c.(4246-4248)ACG>ACT	p.T1416T	LAMB4_uc003vey.2_Silent_p.T1416T|LAMB4_uc010ljp.1_Silent_p.T385T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1416	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.25	14.210949	15.803681	7	21	KEEP	---	---	---	---	capture		Silent	SNP	107688431	107688431	8936	7	C	A	A	A	392	31	LAMB4	1	1
LAMB4	22798	broad.mit.edu	37	7	107704278	107704278	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107704278T>A	uc010ljo.1	-	c.2989A>T	c.(2989-2991)AAC>TAC	p.N997Y	LAMB4_uc003vey.2_Missense_Mutation_p.N997Y|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	997	Laminin EGF-like 10.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.3	85.918836	89.48808	30	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107704278	107704278	8936	7	T	A	A	A	819	63	LAMB4	3	3
DOCK4	9732	broad.mit.edu	37	7	111423968	111423968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111423968C>A	uc003vfy.2	-	c.3577G>T	c.(3577-3579)GGC>TGC	p.G1193C	DOCK4_uc011kml.1_Missense_Mutation_p.G29C|DOCK4_uc011kmm.1_Missense_Mutation_p.G55C|DOCK4_uc003vfw.2_Missense_Mutation_p.G598C|DOCK4_uc003vfx.2_Missense_Mutation_p.G1148C	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1148	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)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.263158	13.466438	14.430255	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111423968	111423968	4873	7	C	A	A	A	273	21	DOCK4	2	2
HYAL4	23553	broad.mit.edu	37	7	123509015	123509015	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123509015G>T	uc003vlc.2	+	c.688G>T	c.(688-690)GCC>TCC	p.A230S	HYAL4_uc011knz.1_Missense_Mutation_p.A230S	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	230	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity				0														0.178082	26.428159	33.553277	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123509015	123509015	7766	7	G	T	T	T	598	46	HYAL4	2	2
IMPDH1	3614	broad.mit.edu	37	7	128035210	128035210	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128035210C>G	uc003vmu.2	-	c.1380G>C	c.(1378-1380)AAG>AAC	p.K460N	IMPDH1_uc011kol.1_Missense_Mutation_p.K375N|IMPDH1_uc011kom.1_Missense_Mutation_p.K370N|IMPDH1_uc003vmt.2_Missense_Mutation_p.K350N|IMPDH1_uc003vmw.2_Missense_Mutation_p.K450N|IMPDH1_uc011kon.1_Missense_Mutation_p.K427N|IMPDH1_uc003vmv.2_Missense_Mutation_p.K424N|IMPDH1_uc003vmx.2_Missense_Mutation_p.K383N|IMPDH1_uc003vmy.2_Missense_Mutation_p.K391N	NM_000883	NP_000874	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform a	375					GMP biosynthetic process|oxidation-reduction process|purine base metabolic process|response to stimulus|visual perception	cytosol	IMP dehydrogenase activity|metal ion binding			lung(1)|central_nervous_system(1)	2					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)									0.272727	5.819341	6.332473	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128035210	128035210	8027	7	C	G	G	G	311	24	IMPDH1	3	3
FLNC	2318	broad.mit.edu	37	7	128482421	128482421	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128482421C>G	uc003vnz.3	+	c.2258C>G	c.(2257-2259)CCC>CGC	p.P753R	FLNC_uc003voa.3_Missense_Mutation_p.P753R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	753	Filamin 5.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892		OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.272727	6.020258	6.532651	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128482421	128482421	6177	7	C	G	G	G	286	22	FLNC	3	3
TNPO3	23534	broad.mit.edu	37	7	128632072	128632072	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128632072T>C	uc010lly.1	-	c.1339A>G	c.(1339-1341)ATA>GTA	p.I447V	TNPO3_uc003vol.1_Missense_Mutation_p.I447V|TNPO3_uc003vom.1_Missense_Mutation_p.I381V|TNPO3_uc010llz.1_Missense_Mutation_p.I447V	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	447					protein transport	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						Pancreas(147;583 2585 39696 52331)								0.22807	30.84536	34.712849	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128632072	128632072	16878	7	T	C	C	C	637	49	TNPO3	4	4
BPGM	669	broad.mit.edu	37	7	134346514	134346514	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134346514G>T	uc003vrv.2	+	c.255G>T	c.(253-255)TGG>TGT	p.W85C	BPGM_uc003vrw.2_Missense_Mutation_p.W85C|BPGM_uc003vrx.2_Missense_Mutation_p.W85C	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	85					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0														0.172414	26.678304	35.497641	15	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134346514	134346514	1516	7	G	T	T	T	546	42	BPGM	2	2
NUP205	23165	broad.mit.edu	37	7	135309964	135309964	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135309964A>G	uc003vsw.2	+	c.4532A>G	c.(4531-4533)CAG>CGG	p.Q1511R	NUP205_uc003vsx.2_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1511					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.27027	27.734082	29.495488	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135309964	135309964	11164	7	A	G	G	G	91	7	NUP205	4	4
KIAA1549	57670	broad.mit.edu	37	7	138601712	138601712	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138601712C>G	uc011kql.1	-	c.2660G>C	c.(2659-2661)AGC>ACC	p.S887T	KIAA1549_uc003vuk.3_Missense_Mutation_p.S837T|KIAA1549_uc011kqj.1_Missense_Mutation_p.S887T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	887						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.428571	9.423869	9.455018	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138601712	138601712	8553	7	C	G	G	G	364	28	KIAA1549	3	3
HIPK2	28996	broad.mit.edu	37	7	139258034	139258034	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:139258034C>A	uc003vvf.3	-	c.3236G>T	c.(3235-3237)AGC>ATC	p.S1079I	HIPK2_uc003vvd.3_Missense_Mutation_p.S1052I	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	1079					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)									363				0.461538	18.348679	18.365431	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139258034	139258034	7402	7	C	A	A	A	364	28	HIPK2	2	2
MGAM	8972	broad.mit.edu	37	7	141730463	141730463	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141730463C>G	uc003vwy.2	+	c.1376C>G	c.(1375-1377)TCT>TGT	p.S459C		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	459	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)									0.293233	123.773473	128.862413	39	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141730463	141730463	9931	7	C	G	G	G	416	32	MGAM	3	3
TRPV5	56302	broad.mit.edu	37	7	142626181	142626181	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142626181G>T	uc003wby.1	-	c.522C>A	c.(520-522)AAC>AAA	p.N174K	TRPV5_uc003wbz.2_Missense_Mutation_p.N174K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	174	ANK 4.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.226415	28.871026	32.514702	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142626181	142626181	17150	7	G	T	T	T	620	48	TRPV5	2	2
CLCN1	1180	broad.mit.edu	37	7	143017866	143017866	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143017866C>A	uc003wcr.1	+	c.411C>A	c.(409-411)TAC>TAA	p.Y137*	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	137	Helical; (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.273504	177.815001	188.624099	64	170	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143017866	143017866	3598	7	C	A	A	A	246	19	CLCN1	5	1
OR2A25	392138	broad.mit.edu	37	7	143772060	143772060	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143772060T>C	uc011ktx.1	+	c.748T>C	c.(748-750)TTT>CTT	p.F250L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.24	77.992889	85.704201	30	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143772060	143772060	11384	7	T	C	C	C	728	56	OR2A25	4	4
OR2A12	346525	broad.mit.edu	37	7	143792345	143792345	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143792345T>C	uc011kty.1	+	c.145T>C	c.(145-147)TAC>CAC	p.Y49H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)													0.239669	76.310541	83.801035	29	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143792345	143792345	11381	7	T	C	C	C	689	53	OR2A12	4	4
OR2A12	346525	broad.mit.edu	37	7	143792734	143792734	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143792734T>C	uc011kty.1	+	c.534T>C	c.(532-534)TGT>TGC	p.C178C		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)													0.236364	62.929466	69.99747	26	84	KEEP	---	---	---	---	capture		Silent	SNP	143792734	143792734	11381	7	T	C	C	C	751	58	OR2A12	4	4
CNTNAP2	26047	broad.mit.edu	37	7	148080900	148080900	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148080900C>A	uc003weu.1	+	c.3635C>A	c.(3634-3636)TCC>TAC	p.S1212Y	CNTNAP2_uc003wev.1_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1212	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.266667	9.603234	10.334672	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148080900	148080900	3785	7	C	A	A	A	390	30	CNTNAP2	2	2
ZNF398	57541	broad.mit.edu	37	7	148851379	148851379	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148851379A>T	uc011kum.1	+	c.382A>T	c.(382-384)AGG>TGG	p.R128W	ZNF398_uc011kul.1_5'UTR|ZNF398_uc003wfl.2_Missense_Mutation_p.R123W	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform b	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)											0.285714	22.688714	23.842237	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148851379	148851379	18478	7	A	T	T	T	88	7	ZNF398	3	3
GIMAP1	170575	broad.mit.edu	37	7	150417643	150417643	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150417643G>T	uc003whp.2	+	c.575G>T	c.(574-576)CGG>CTG	p.R192L	GIMAP1_uc003whq.2_Missense_Mutation_p.R184L	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	184	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.125	4.311202	7.605719	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150417643	150417643	6647	7	G	T	T	T	507	39	GIMAP1	1	1
AGAP3	116988	broad.mit.edu	37	7	150841002	150841002	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150841002A>T	uc003wjg.1	+	c.2708A>T	c.(2707-2709)GAG>GTG	p.E903V	AGAP3_uc003wje.1_Missense_Mutation_p.E572V|AGAP3_uc003wjj.1_Missense_Mutation_p.E402V|AGAP3_uc003wjk.1_Missense_Mutation_p.E321V	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	867					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.3	16.553122	17.261638	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150841002	150841002	371	7	A	T	T	T	143	11	AGAP3	3	3
HTR5A	3361	broad.mit.edu	37	7	154862699	154862699	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154862699C>A	uc003wlu.1	+	c.90C>A	c.(88-90)CGC>CGA	p.R30R		NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	30	Extracellular (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)										0.275862	18.434095	19.720147	8	21	KEEP	---	---	---	---	capture		Silent	SNP	154862699	154862699	7750	7	C	A	A	A	327	26	HTR5A	2	2
PTPRN2	5799	broad.mit.edu	37	7	157926395	157926395	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157926395C>G	uc011kwa.1	-	c.1599G>C	c.(1597-1599)GCG>GCC	p.A533A	PTPRN2_uc003wno.2_Silent_p.A510A|PTPRN2_uc003wnp.2_Silent_p.A493A|PTPRN2_uc003wnq.2_Silent_p.A510A|PTPRN2_uc003wnr.2_Silent_p.A472A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	510	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.428571	7.520882	7.552531	3	4	KEEP	---	---	---	---	capture		Silent	SNP	157926395	157926395	13265	7	C	G	G	G	340	27	PTPRN2	3	3
HDAC9	9734	broad.mit.edu	37	7	18687614	18687614	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18687614T>A	uc003sui.2	+	c.1242T>A	c.(1240-1242)CTT>CTA	p.L414L	HDAC9_uc003sue.2_Silent_p.L411L|HDAC9_uc011jyd.1_Silent_p.L411L|HDAC9_uc003suh.2_Silent_p.L411L|HDAC9_uc003suj.2_Silent_p.L370L|HDAC9_uc011jya.1_Silent_p.L408L|HDAC9_uc003sua.1_Silent_p.L389L|HDAC9_uc011jyb.1_Silent_p.L367L|HDAC9_uc003sud.1_Silent_p.L411L|HDAC9_uc011jyc.1_Silent_p.L370L|HDAC9_uc003suf.1_Silent_p.L442L|HDAC9_uc010kud.1_Silent_p.L414L|HDAC9_uc011jye.1_Silent_p.L383L|HDAC9_uc011jyf.1_Silent_p.L334L|HDAC9_uc010kue.1_Silent_p.L154L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	411					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific 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|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.4	27.202631	27.375407	8	12	KEEP	---	---	---	---	capture		Silent	SNP	18687614	18687614	7297	7	T	A	A	A	808	63	HDAC9	3	3
HDAC9	9734	broad.mit.edu	37	7	19015514	19015514	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19015514C>A	uc003sui.2	+	c.3108C>A	c.(3106-3108)ACC>ACA	p.T1036T	HDAC9_uc003sue.2_Silent_p.T1033T|HDAC9_uc003suj.2_Silent_p.T992T|HDAC9_uc003suk.2_Silent_p.T281T	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	Error:Variant_position_missing_in_Q9UKV0_after_alignment					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific 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|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.365385	57.957471	58.766921	19	33	KEEP	---	---	---	---	capture		Silent	SNP	19015514	19015514	7297	7	C	A	A	A	288	23	HDAC9	1	1
DNAH11	8701	broad.mit.edu	37	7	21934524	21934524	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21934524C>A	uc003svc.2	+	c.12977C>A	c.(12976-12978)GCT>GAT	p.A4326D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4326					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.315789	93.742878	97.193116	36	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21934524	21934524	4781	7	C	A	A	A	364	28	DNAH11	2	2
BMPER	168667	broad.mit.edu	37	7	33945219	33945219	+	De_novo_Start_OutOfFrame	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33945219G>T	uc011kap.1	+	c.-6G>T	c.(-8--4)CAGGT>CATGT			NM_133468	NP_597725			BMP-binding endothelial regulator precursor						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.428571	7.921621	7.953162	3	4	KEEP	---	---	---	---	capture		De_novo_Start_OutOfFrame	SNP	33945219	33945219	1493	7	G	T	T	T	443	35	BMPER	5	2
SUN3	256979	broad.mit.edu	37	7	48046872	48046872	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48046872C>A	uc003tof.2	-	c.382G>T	c.(382-384)GAA>TAA	p.E128*	SUN3_uc010kyq.2_Nonsense_Mutation_p.E28*|SUN3_uc003tog.2_Nonsense_Mutation_p.E128*|SUN3_uc011kcf.1_Nonsense_Mutation_p.E116*	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	128	Potential.					integral to membrane				central_nervous_system(1)	1														0.219512	20.899161	23.950803	9	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48046872	48046872	15913	7	C	A	A	A	403	31	SUN3	5	1
ABCA13	154664	broad.mit.edu	37	7	48313592	48313592	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48313592T>C	uc003toq.2	+	c.4329T>C	c.(4327-4329)AAT>AAC	p.N1443N	ABCA13_uc010kyr.2_Silent_p.N946N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1443					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.294118	29.238979	30.527396	10	24	KEEP	---	---	---	---	capture		Silent	SNP	48313592	48313592	32	7	T	C	C	C	634	49	ABCA13	4	4
MMD2	221938	broad.mit.edu	37	7	4947178	4947178	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4947178A>T	uc003sno.3	-	c.662T>A	c.(661-663)CTG>CAG	p.L221Q	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.3_Missense_Mutation_p.L197Q|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	221	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)										0.208333	23.823779	27.60485	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4947178	4947178	10034	7	A	T	T	T	91	7	MMD2	3	3
IKZF1	10320	broad.mit.edu	37	7	50459442	50459442	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50459442C>G	uc003tow.3	+	c.731C>G	c.(730-732)ACT>AGT	p.T244S	IKZF1_uc003tox.3_Missense_Mutation_p.T202S|IKZF1_uc003toy.3_Missense_Mutation_p.T202S|IKZF1_uc011kck.1_Missense_Mutation_p.T157S|IKZF1_uc003toz.3_Missense_Mutation_p.T214S|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_5'UTR	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	244					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.224719	52.649191	58.850274	20	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50459442	50459442	7915	7	C	G	G	G	260	20	IKZF1	3	3
FSCN1	6624	broad.mit.edu	37	7	5642887	5642887	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5642887G>A	uc003sou.2	+	c.833_splice	c.e2-1	p.G278_splice	FSCN1_uc003sov.2_5'UTR|FSCN1_uc003sow.2_5'Flank	NM_003088	NP_003079			fascin 1						actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)										0.428571	27.571285	27.664757	9	12	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	5642887	5642887	6317	7	G	A	A	A	455	35	FSCN1	5	2
PMS2	5395	broad.mit.edu	37	7	6029498	6029498	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6029498C>G	uc003spl.2	-	c.1077G>C	c.(1075-1077)TTG>TTC	p.L359F	PMS2_uc003spj.2_Missense_Mutation_p.L253F|PMS2_uc003spk.2_Missense_Mutation_p.L224F|PMS2_uc011jwl.1_Missense_Mutation_p.L224F|PMS2_uc010ktg.2_Missense_Mutation_p.L48F|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.L359F	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	359					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			central_nervous_system(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)						812				0.214286	14.334197	16.448321	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6029498	6029498	12569	7	C	G	G	G	376	29	PMS2	3	3
MLXIPL	51085	broad.mit.edu	37	7	73010750	73010750	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73010750C>G	uc003tyn.1	-	c.1882G>C	c.(1882-1884)GTC>CTC	p.V628L	MLXIPL_uc003tyj.1_Missense_Mutation_p.V9L|MLXIPL_uc003tyk.1_Missense_Mutation_p.V628L|MLXIPL_uc003tyl.1_Missense_Mutation_p.V628L|MLXIPL_uc003tym.1_Missense_Mutation_p.V628L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.V534L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	628					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.5	23.226391	23.226391	7	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73010750	73010750	10027	7	C	G	G	G	247	19	MLXIPL	3	3
CLIP2	7461	broad.mit.edu	37	7	73753320	73753320	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73753320G>T	uc003uam.2	+	c.664G>T	c.(664-666)GGG>TGG	p.G222W	CLIP2_uc003uan.2_Missense_Mutation_p.G222W	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	222						microtubule associated complex					0														0.333333	13.780998	14.144553	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73753320	73753320	3671	7	G	T	T	T	559	43	CLIP2	2	2
PRKAR1B	5575	broad.mit.edu	37	7	751061	751061	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:751061G>T	uc003siu.1	-	c.82C>A	c.(82-84)CAG>AAG	p.Q28K	PRKAR1B_uc003siv.2_Missense_Mutation_p.Q28K|PRKAR1B_uc003siw.1_Missense_Mutation_p.Q28K	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	28	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)						35				0.327586	51.565681	53.064812	19	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	751061	751061	12947	7	G	T	T	T	611	47	PRKAR1B	2	2
HIP1	3092	broad.mit.edu	37	7	75191462	75191462	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75191462T>A	uc003uds.1	-	c.1033A>T	c.(1033-1035)AAC>TAC	p.N345Y	HIP1_uc011kfz.1_Missense_Mutation_p.N222Y	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	345					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			pancreas(2)|ovary(1)|central_nervous_system(1)	4										1179				0.325	39.761765	40.848477	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75191462	75191462	7399	7	T	A	A	A	819	63	HIP1	3	3
FGL2	10875	broad.mit.edu	37	7	76826210	76826210	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76826210T>A	uc003ugb.2	-	c.706A>T	c.(706-708)AGT>TGT	p.S236C	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	236	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(1)	1														0.3125	56.377048	58.379889	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76826210	76826210	6110	7	T	A	A	A	689	53	FGL2	3	3
FGL2	10875	broad.mit.edu	37	7	76826219	76826219	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76826219G>T	uc003ugb.2	-	c.697C>A	c.(697-699)CCC>ACC	p.P233T	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	233	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(1)	1														0.328358	57.525111	59.276354	22	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76826219	76826219	6110	7	G	T	T	T	533	41	FGL2	2	2
PCLO	27445	broad.mit.edu	37	7	82387925	82387925	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82387925T>G	uc003uhx.2	-	c.15395A>C	c.(15394-15396)CAC>CCC	p.H5132P		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5055					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.196319	73.496964	87.520891	32	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82387925	82387925	12003	7	T	G	G	G	767	59	PCLO	4	4
PCLO	27445	broad.mit.edu	37	7	82595465	82595465	+	Silent	SNP	T	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82595465T>G	uc003uhx.2	-	c.3639A>C	c.(3637-3639)CCA>CCC	p.P1213P	PCLO_uc003uhv.2_Silent_p.P1213P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1152					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.058824	-7.521915	13.259382	6	96	KEEP	---	---	---	---	capture		Silent	SNP	82595465	82595465	12003	7	T	G	G	G	756	59	PCLO	4	4
SEMA3A	10371	broad.mit.edu	37	7	83689838	83689838	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83689838T>C	uc003uhz.2	-	c.490A>G	c.(490-492)AAC>GAC	p.N164D		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	164	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.156627	27.733935	37.0622	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83689838	83689838	14510	7	T	C	C	C	832	64	SEMA3A	4	4
SEMA3D	223117	broad.mit.edu	37	7	84628848	84628848	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84628848G>A	uc003uic.2	-	c.2242C>T	c.(2242-2244)CCA>TCA	p.P748S	SEMA3D_uc010led.2_Missense_Mutation_p.P748S|SEMA3D_uc003uib.2_Missense_Mutation_p.P387S	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	748	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.25	24.831266	27.103931	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84628848	84628848	14513	7	G	A	A	A	559	43	SEMA3D	2	2
SEMA3D	223117	broad.mit.edu	37	7	84727156	84727156	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84727156G>T	uc003uic.2	-	c.277C>A	c.(277-279)CTC>ATC	p.L93I	SEMA3D_uc010led.2_Missense_Mutation_p.L93I|SEMA3D_uc010lee.1_Missense_Mutation_p.L93I	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	93	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.255	130.719563	141.621325	51	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84727156	84727156	14513	7	G	T	T	T	468	36	SEMA3D	2	2
AKAP9	10142	broad.mit.edu	37	7	91712887	91712887	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91712887G>T	uc003ulg.2	+	c.8564G>T	c.(8563-8565)AGG>ATG	p.R2855M	AKAP9_uc003ulf.2_Missense_Mutation_p.R2847M|AKAP9_uc003uli.2_Missense_Mutation_p.R2478M|AKAP9_uc003ulj.2_Missense_Mutation_p.R625M|AKAP9_uc003ulk.2_Missense_Mutation_p.R130M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2867					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)	14	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)							807				0.275862	19.686037	20.998996	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91712887	91712887	462	7	G	T	T	T	455	35	AKAP9	2	2
PEX1	5189	broad.mit.edu	37	7	92136428	92136428	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92136428G>A	uc003uly.2	-	c.1683C>T	c.(1681-1683)TCC>TCT	p.S561S	PEX1_uc011khr.1_Silent_p.S353S|PEX1_uc010ley.2_Silent_p.S561S|PEX1_uc011khs.1_Silent_p.S239S|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	561					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)											0.185185	12.260299	14.767852	5	22	KEEP	---	---	---	---	capture		Silent	SNP	92136428	92136428	12157	7	G	A	A	A	444	35	PEX1	2	2
COL1A2	1278	broad.mit.edu	37	7	94054489	94054489	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94054489G>C	uc003ung.1	+	c.2734G>C	c.(2734-2736)GTG>CTG	p.V912L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	912					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.344828	29.630907	30.252236	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94054489	94054489	3816	7	G	C	C	C	624	48	COL1A2	3	3
SLC25A32	81034	broad.mit.edu	37	8	104413780	104413780	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104413780T>C	uc003yll.2	-	c.776A>G	c.(775-777)TAC>TGC	p.Y259C	SLC25A32_uc011lhr.1_Missense_Mutation_p.Y127C	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	259	Solcar 3.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)									0.265823	58.04113	61.95454	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104413780	104413780	14993	8	T	C	C	C	741	57	SLC25A32	4	4
XKR6	286046	broad.mit.edu	37	8	10755724	10755724	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10755724G>A	uc003wtk.1	-	c.1664C>T	c.(1663-1665)ACG>ATG	p.T555M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	555						integral to membrane				ovary(1)	1				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)										0.428571	58.760159	58.978921	21	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10755724	10755724	18016	8	G	A	A	A	520	40	XKR6	1	1
PKHD1L1	93035	broad.mit.edu	37	8	110466953	110466953	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110466953T>A	uc003yne.2	+	c.6746T>A	c.(6745-6747)ATT>AAT	p.I2249N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2249	Extracellular (Potential).|G8 1.				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)											0.257576	92.399387	99.422907	34	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110466953	110466953	12397	8	T	A	A	A	676	52	PKHD1L1	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110535121	110535121	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110535121T>A	uc003yne.2	+	c.12330_splice	c.e75+2	p.D4110_splice		NM_177531	NP_803875			fibrocystin L precursor						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)											0.321429	26.26628	27.058693	9	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110535121	110535121	12397	8	T	A	A	A	741	57	PKHD1L1	5	3
CSMD3	114788	broad.mit.edu	37	8	113241081	113241081	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113241081G>T	uc003ynu.2	-	c.10868C>A	c.(10867-10869)CCT>CAT	p.P3623H	CSMD3_uc003yns.2_Missense_Mutation_p.P2825H|CSMD3_uc003ynt.2_Missense_Mutation_p.P3583H|CSMD3_uc011lhx.1_Missense_Mutation_p.P3454H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3623	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.320755	49.255588	50.768628	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113241081	113241081	4087	8	G	T	T	T	455	35	CSMD3	2	2
ATAD2	29028	broad.mit.edu	37	8	124384054	124384054	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124384054C>G	uc003yqh.3	-	c.392G>C	c.(391-393)CGG>CCG	p.R131P	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Non-coding_Transcript|ATAD2_uc003yqj.2_Missense_Mutation_p.R131P	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)											0.210526	10.390729	11.862549	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124384054	124384054	1090	8	C	G	G	G	299	23	ATAD2	3	3
MTSS1	9788	broad.mit.edu	37	8	125565848	125565848	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125565848G>T	uc003yrl.2	-	c.1665C>A	c.(1663-1665)AAC>AAA	p.N555K	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.N200K|MTSS1_uc011lin.1_Missense_Mutation_p.N325K|MTSS1_uc011lio.1_Missense_Mutation_p.N441K|MTSS1_uc003yri.2_Missense_Mutation_p.N269K|MTSS1_uc003yrk.2_Missense_Mutation_p.N551K|MTSS1_uc003yrj.2_Missense_Mutation_p.N526K	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	551					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			Esophageal Squamous(160;622 1893 3862 8546 12509)								0.181818	8.80251	10.882544	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125565848	125565848	10355	8	G	T	T	T	620	48	MTSS1	2	2
ZNF572	137209	broad.mit.edu	37	8	125989914	125989914	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125989914C>A	uc003yrr.2	+	c.1404C>A	c.(1402-1404)TAC>TAA	p.Y468*		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	468	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.031746	-44.222213	16.127341	8	244	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125989914	125989914	18599	8	C	A	A	A	220	17	ZNF572	5	2
ADCY8	114	broad.mit.edu	37	8	131796004	131796004	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131796004T>A	uc003ytd.3	-	c.3201A>T	c.(3199-3201)TCA>TCT	p.S1067S	ADCY8_uc010mds.2_Silent_p.S936S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1067	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.333333	69.880019	71.649261	24	48	KEEP	---	---	---	---	capture		Silent	SNP	131796004	131796004	301	8	T	A	A	A	756	59	ADCY8	3	3
ADCY8	114	broad.mit.edu	37	8	131848681	131848681	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131848681C>A	uc003ytd.3	-	c.2517G>T	c.(2515-2517)ACG>ACT	p.T839T	ADCY8_uc010mds.2_Silent_p.T708T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	839	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.215054	47.959185	54.930291	20	73	KEEP	---	---	---	---	capture		Silent	SNP	131848681	131848681	301	8	C	A	A	A	288	23	ADCY8	1	1
COL22A1	169044	broad.mit.edu	37	8	139606410	139606410	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139606410G>T	uc003yvd.2	-	c.4465C>A	c.(4465-4467)CCG>ACG	p.P1489T	COL22A1_uc011ljo.1_Missense_Mutation_p.P769T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.16129	5.344617	8.752826	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139606410	139606410	3819	8	G	T	T	T	559	43	COL22A1	2	2
UNC5D	137970	broad.mit.edu	37	8	35583890	35583890	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35583890G>T	uc003xjr.1	+	c.1524G>T	c.(1522-1524)AGG>AGT	p.R508S	UNC5D_uc003xjs.1_Missense_Mutation_p.R503S|UNC5D_uc003xju.1_Missense_Mutation_p.R84S|UNC5D_uc003xjt.1_Missense_Mutation_p.R266S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	508	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.15493	14.781721	22.867129	11	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35583890	35583890	17553	8	G	T	T	T	529	41	UNC5D	2	2
IKBKB	3551	broad.mit.edu	37	8	42186654	42186654	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42186654G>T	uc003xow.1	+	c.2127G>T	c.(2125-2127)GTG>GTT	p.V709V	IKBKB_uc010lxj.1_Silent_p.V486V|IKBKB_uc003xox.1_Silent_p.V430V|IKBKB_uc011lcp.1_Non-coding_Transcript|IKBKB_uc011lcq.1_Silent_p.V707V|IKBKB_uc010lxi.1_Non-coding_Transcript|IKBKB_uc011lcr.1_Silent_p.V650V	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	709					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity|transcription activator activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)					402				0.458333	170.613317	170.794493	55	65	KEEP	---	---	---	---	capture		Silent	SNP	42186654	42186654	7912	8	G	T	T	T	600	47	IKBKB	2	2
SLC20A2	6575	broad.mit.edu	37	8	42302219	42302219	+	Silent	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42302219C>G	uc010lxl.2	-	c.675G>C	c.(673-675)CTG>CTC	p.L225L	SLC20A2_uc010lxm.2_Silent_p.L225L|SLC20A2_uc003xpe.2_Silent_p.L225L|SLC20A2_uc011lcu.1_Silent_p.L27L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	225	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.514286	63.55143	63.557635	18	17	KEEP	---	---	---	---	capture		Silent	SNP	42302219	42302219	14935	8	C	G	G	G	210	17	SLC20A2	3	3
POTEA	340441	broad.mit.edu	37	8	43197382	43197382	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43197382C>A	uc003xpz.1	+	c.1271C>A	c.(1270-1272)TCA>TAA	p.S424*	POTEA_uc003xqa.1_Nonsense_Mutation_p.S378*	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	424										ovary(1)	1														0.227273	23.787822	26.749625	10	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43197382	43197382	12690	8	C	A	A	A	377	29	POTEA	5	2
SNTG1	54212	broad.mit.edu	37	8	51617247	51617247	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51617247A>G	uc010lxy.1	+	c.1126A>G	c.(1126-1128)AGT>GGT	p.S376G	SNTG1_uc003xqs.1_Missense_Mutation_p.S376G|SNTG1_uc010lxz.1_Missense_Mutation_p.S376G|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	376	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.075	0.101277	7.505839	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51617247	51617247	15374	8	A	G	G	G	39	3	SNTG1	4	4
PXDNL	137902	broad.mit.edu	37	8	52384858	52384858	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52384858G>A	uc003xqu.3	-	c.701C>T	c.(700-702)CCC>CTC	p.P234L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	234	Ig-like C2-type 1.				hydrogen peroxide catabolic process|oxidation-reduction 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)												0.241935	41.394822	45.159661	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52384858	52384858	13306	8	G	A	A	A	559	43	PXDNL	2	2
ST18	9705	broad.mit.edu	37	8	53025846	53025846	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53025846A>G	uc003xqz.2	-	c.3056T>C	c.(3055-3057)ATG>ACG	p.M1019T	ST18_uc011ldq.1_Missense_Mutation_p.M666T|ST18_uc011ldr.1_Missense_Mutation_p.M984T|ST18_uc011lds.1_Missense_Mutation_p.M924T|ST18_uc003xra.2_Missense_Mutation_p.M1019T	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	1019						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.172414	19.636171	25.499617	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53025846	53025846	15730	8	A	G	G	G	104	8	ST18	4	4
DNAJC5B	85479	broad.mit.edu	37	8	67012238	67012238	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67012238G>C	uc003xvs.1	+	c.572G>C	c.(571-573)GGA>GCA	p.G191A	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	191					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)											0.23913	31.507455	34.362185	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67012238	67012238	4834	8	G	C	C	C	533	41	DNAJC5B	3	3
EYA1	2138	broad.mit.edu	37	8	72229803	72229803	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72229803G>A	uc003xys.3	-	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	EYA1_uc003xyr.3_Silent_p.Y175Y|EYA1_uc003xyt.3_Silent_p.Y147Y|EYA1_uc010lzf.2_Silent_p.Y107Y|EYA1_uc003xyu.2_Silent_p.Y180Y|EYA1_uc011lfe.1_Silent_p.Y174Y|EYA1_uc003xyv.2_Silent_p.Y58Y	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	180					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.25	95.438027	104.519593	40	120	KEEP	---	---	---	---	capture		Silent	SNP	72229803	72229803	5522	8	G	A	A	A	620	48	EYA1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77761363	77761363	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77761363A>T	uc003yav.2	+	c.3509A>T	c.(3508-3510)CAG>CTG	p.Q1170L	ZFHX4_uc003yau.1_Missense_Mutation_p.Q1215L|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1170L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1170					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.333333	11.995992	12.291203	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77761363	77761363	18223	8	A	T	T	T	91	7	ZFHX4	3	3
FAM164A	51101	broad.mit.edu	37	8	79609676	79609676	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:79609676C>T	uc003ybd.2	+	c.539C>T	c.(538-540)CCT>CTT	p.P180L		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	180										ovary(1)	1														0.262295	43.880506	46.930376	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79609676	79609676	5682	8	C	T	T	T	312	24	FAM164A	2	2
CNGB3	54714	broad.mit.edu	37	8	87679295	87679295	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87679295G>T	uc003ydx.2	-	c.710C>A	c.(709-711)CCA>CAA	p.P237Q	CNGB3_uc010maj.2_Missense_Mutation_p.P99Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	237	Helical; Name=H1; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.262295	38.539537	41.690415	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87679295	87679295	3739	8	G	T	T	T	611	47	CNGB3	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885672	88885672	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885672C>G	uc003ydz.2	-	c.528G>C	c.(526-528)ATG>ATC	p.M176I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	176										ovary(1)	1														0.111111	6.648028	13.370487	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88885672	88885672	4443	8	C	G	G	G	325	25	DCAF4L2	3	3
MMP16	4325	broad.mit.edu	37	8	89180006	89180006	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89180006C>A	uc003yeb.3	-	c.601G>T	c.(601-603)GGA>TGA	p.G201*	MMP16_uc003yec.2_Nonsense_Mutation_p.G201*	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	201	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.333333	36.564499	37.522678	13	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89180006	89180006	10045	8	C	A	A	A	273	21	MMP16	5	2
TMEM67	91147	broad.mit.edu	37	8	94797464	94797464	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:94797464C>T	uc011lgk.1	+	c.1146C>T	c.(1144-1146)ATC>ATT	p.I382I	TMEM67_uc010mat.1_Silent_p.I297I|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Silent_p.I301I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	382					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)											0.233918	104.03856	115.099105	40	131	KEEP	---	---	---	---	capture		Silent	SNP	94797464	94797464	16735	8	C	T	T	T	408	32	TMEM67	2	2
GDF6	392255	broad.mit.edu	37	8	97172676	97172676	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97172676G>T	uc003yhp.2	-	c.245C>A	c.(244-246)GCG>GAG	p.A82E		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	82					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)													0.2	6.67425	8.369975	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97172676	97172676	6585	8	G	T	T	T	494	38	GDF6	1	1
POP1	10940	broad.mit.edu	37	8	99162791	99162791	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99162791G>T	uc003yij.3	+	c.1981G>T	c.(1981-1983)GGC>TGC	p.G661C	POP1_uc011lgv.1_Missense_Mutation_p.G661C|POP1_uc003yik.2_Missense_Mutation_p.G661C	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	661					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)											0.212121	29.302997	34.376514	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99162791	99162791	12680	8	G	T	T	T	455	35	POP1	2	2
COL15A1	1306	broad.mit.edu	37	9	101818567	101818567	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101818567G>T	uc004azb.1	+	c.3218G>T	c.(3217-3219)GGG>GTG	p.G1073V		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1073	Triple-helical region 8 (COL8).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.44	66.349504	66.504932	22	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101818567	101818567	3810	9	G	T	T	T	559	43	COL15A1	2	2
TEX10	54881	broad.mit.edu	37	9	103084052	103084052	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103084052A>C	uc004bas.2	-	c.1981T>G	c.(1981-1983)TCA>GCA	p.S661A	TEX10_uc011lvf.1_Missense_Mutation_p.S500A|TEX10_uc011lvg.1_Missense_Mutation_p.S664A	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	661						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)										0.2	20.379929	23.72563	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103084052	103084052	16299	9	A	C	C	C	156	12	TEX10	4	4
ABCA1	19	broad.mit.edu	37	9	107602736	107602736	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107602736C>A	uc004bcl.2	-	c.878G>T	c.(877-879)AGC>ATC	p.S293I		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	293	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 binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.311475	50.402816	52.333562	19	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107602736	107602736	29	9	C	A	A	A	364	28	ABCA1	2	2
RAD23B	5887	broad.mit.edu	37	9	110087285	110087285	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:110087285G>T	uc004bde.2	+	c.1116G>T	c.(1114-1116)AGG>AGT	p.R372S	RAD23B_uc011lwa.1_Missense_Mutation_p.R372S|RAD23B_uc011lwb.1_Missense_Mutation_p.R351S	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	372	UBA 2.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1														0.06383	-2.391868	6.889729	3	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110087285	110087285	13443	9	G	T	T	T	555	43	RAD23B	2	2
PTPN3	5774	broad.mit.edu	37	9	112172594	112172594	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112172594C>A	uc004bed.2	-	c.1415G>T	c.(1414-1416)GGC>GTC	p.G472V	PTPN3_uc004beb.2_Missense_Mutation_p.G341V|PTPN3_uc004bec.2_Missense_Mutation_p.G296V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.G427V|PTPN3_uc011lwh.1_Missense_Mutation_p.G318V|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.G185V|PTPN3_uc011lwf.1_Missense_Mutation_p.G140V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	472					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.25641	48.614696	52.778612	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112172594	112172594	13246	9	C	A	A	A	338	26	PTPN3	2	2
PAPPA	5069	broad.mit.edu	37	9	118974078	118974078	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:118974078G>A	uc004bjn.2	+	c.1785G>A	c.(1783-1785)GAG>GAA	p.E595E	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	595					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|pancreas(1)	5										611				0.283105	164.748839	174.010773	62	157	KEEP	---	---	---	---	capture		Silent	SNP	118974078	118974078	11849	9	G	A	A	A	425	33	PAPPA	2	2
ASTN2	23245	broad.mit.edu	37	9	119976885	119976886	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119976885_119976886GG>TT	uc004bjs.1	-	c.766_767CC>AA	c.(766-768)CCA>AAA	p.P256K	ASTN2_uc004bjr.1_Missense_Mutation_p.P256K|ASTN2_uc004bjt.1_Missense_Mutation_p.P256K	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	256	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.266667	22.688079	24.162267	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	119976885	119976886	1084	9	GG	TT	TT	TT	611	47	ASTN2	2	2
CDK5RAP2	55755	broad.mit.edu	37	9	123216048	123216048	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123216048G>A	uc004bkf.2	-	c.2479C>T	c.(2479-2481)CCT>TCT	p.P827S	CDK5RAP2_uc004bke.2_Missense_Mutation_p.P112S|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.P827S|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.P92S|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.P92S|CDK5RAP2_uc011lya.1_Missense_Mutation_p.P92S|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.P594S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	827					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|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.302817	110.596441	115.512901	43	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123216048	123216048	3275	9	G	A	A	A	572	44	CDK5RAP2	2	2
OR1L6	392390	broad.mit.edu	37	9	125512435	125512435	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125512435C>A	uc011lzc.1	+	c.417C>A	c.(415-417)TAC>TAA	p.Y139*		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L,	139	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.337838	64.432301	66.162834	25	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125512435	125512435	11372	9	C	A	A	A	259	20	OR1L6	5	2
OR1K1	392392	broad.mit.edu	37	9	125563218	125563218	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125563218C>A	uc011lze.1	+	c.817C>A	c.(817-819)CGT>AGT	p.R273S		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	273	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.269841	42.661701	45.664145	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125563218	125563218	11368	9	C	A	A	A	299	23	OR1K1	1	1
GAPVD1	26130	broad.mit.edu	37	9	128122825	128122825	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128122825C>T	uc004bpp.2	+	c.4144C>T	c.(4144-4146)CCA>TCA	p.P1382S	GAPVD1_uc004bpq.2_Missense_Mutation_p.P1355S|GAPVD1_uc010mwx.2_Missense_Mutation_p.P1373S|GAPVD1_uc004bpr.2_Missense_Mutation_p.P1334S|GAPVD1_uc004bps.2_Missense_Mutation_p.P1328S|GAPVD1_uc004bpt.2_Missense_Mutation_p.P388S	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1373	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4														0.166667	11.126277	14.92005	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128122825	128122825	6503	9	C	T	T	T	234	18	GAPVD1	2	2
RALGPS1	9649	broad.mit.edu	37	9	129812360	129812360	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129812360G>T	uc004bqo.1	+	c.339G>T	c.(337-339)CAG>CAT	p.Q113H	RALGPS1_uc011mab.1_Missense_Mutation_p.Q113H|RALGPS1_uc011mac.1_Missense_Mutation_p.Q113H|RALGPS1_uc004bqq.3_Missense_Mutation_p.Q113H	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	113	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1														0.172414	18.234322	24.103745	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129812360	129812360	13477	9	G	T	T	T	425	33	RALGPS1	2	2
AK1	203	broad.mit.edu	37	9	130630759	130630759	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130630759G>A	uc004bsm.3	-	c.357C>T	c.(355-357)GAC>GAT	p.D119D		NM_000476	NP_000467	P00568	KAD1_HUMAN	adenylate kinase 1	119					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding				0														0.5	8.125215	8.125215	3	3	KEEP	---	---	---	---	capture		Silent	SNP	130630759	130630759	442	9	G	A	A	A	516	40	AK1	1	1
DNM1	1759	broad.mit.edu	37	9	130984572	130984572	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130984572A>T	uc011mau.1	+	c.946A>T	c.(946-948)AAC>TAC	p.N316Y	DNM1_uc010mxr.2_Missense_Mutation_p.N316Y|DNM1_uc011mat.1_Missense_Mutation_p.N316Y	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	316					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.470588	22.732033	22.741197	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130984572	130984572	4853	9	A	T	T	T	117	9	DNM1	3	3
FREM1	158326	broad.mit.edu	37	9	14769798	14769798	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14769798G>T	uc003zlm.2	-	c.5128C>A	c.(5128-5130)CCA>ACA	p.P1710T	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_Non-coding_Transcript|FREM1_uc003zll.2_Missense_Mutation_p.P246T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1710	CSPG 12.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.15	4.711223	7.0609	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14769798	14769798	6291	9	G	T	T	T	559	43	FREM1	2	2
TOPORS	10210	broad.mit.edu	37	9	32542380	32542380	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32542380C>A	uc003zrb.2	-	c.2143G>T	c.(2143-2145)GGG>TGG	p.G715W	TOPORS_uc003zrc.2_Missense_Mutation_p.G648W	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	715	Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent|visual perception	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)										0.198198	48.280927	57.698519	22	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32542380	32542380	16912	9	C	A	A	A	273	21	TOPORS	2	2
VCP	7415	broad.mit.edu	37	9	35057457	35057457	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35057457C>A	uc003zvy.2	-	c.2231G>T	c.(2230-2232)CGC>CTC	p.R744L	VCP_uc003zvz.2_Non-coding_Transcript|VCP_uc010mkh.1_Missense_Mutation_p.R413L|VCP_uc010mki.1_Missense_Mutation_p.R699L	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	744					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.333333	353.517795	362.416058	121	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35057457	35057457	17705	9	C	A	A	A	351	27	VCP	1	1
C9orf71	169693	broad.mit.edu	37	9	71152258	71152258	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71152258G>T	uc004agt.2	-	c.430C>A	c.(430-432)CCA>ACA	p.P144T		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	hypothetical protein LOC169693	144						integral to membrane					0														0.232143	27.466371	31.134356	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71152258	71152258	2610	9	G	T	T	T	559	43	C9orf71	2	2
ALDH1A1	216	broad.mit.edu	37	9	75520889	75520889	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75520889C>G	uc004ajd.2	-	c.1418G>C	c.(1417-1419)GGA>GCA	p.G473A	ALDH1A1_uc011lsh.1_Missense_Mutation_p.G394A|ALDH1A1_uc011lsg.1_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	473					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.307692	12.795595	13.223883	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75520889	75520889	493	9	C	G	G	G	390	30	ALDH1A1	3	3
PTPRD	5789	broad.mit.edu	37	9	8340469	8340469	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8340469T>C	uc003zkk.2	-	c.5127A>G	c.(5125-5127)AGA>AGG	p.R1709R	PTPRD_uc003zkp.2_Silent_p.R1303R|PTPRD_uc003zkq.2_Silent_p.R1302R|PTPRD_uc003zkr.2_Silent_p.R1293R|PTPRD_uc003zks.2_Silent_p.R1302R|PTPRD_uc003zkl.2_Silent_p.R1700R|PTPRD_uc003zkm.2_Silent_p.R1696R|PTPRD_uc003zkn.2_Silent_p.R1298R|PTPRD_uc003zko.2_Silent_p.R1299R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1709	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		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)						1253	TSP Lung(15;0.13)			0.448276	40.168095	40.235918	13	16	KEEP	---	---	---	---	capture		Silent	SNP	8340469	8340469	13256	9	T	C	C	C	751	58	PTPRD	4	4
PTCH1	5727	broad.mit.edu	37	9	98242852	98242852	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:98242852C>A	uc004avk.3	-	c.765G>T	c.(763-765)CGG>CGT	p.R255R	PTCH1_uc010mro.2_Silent_p.R104R|PTCH1_uc010mrp.2_Silent_p.R104R|PTCH1_uc010mrq.2_Silent_p.R104R|PTCH1_uc004avl.3_Silent_p.R104R|PTCH1_uc010mrr.2_Silent_p.R189R|PTCH1_uc004avm.3_Silent_p.R254R|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_Non-coding_Transcript|PTCH1_uc010mru.1_Non-coding_Transcript	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	255	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L254fs*9(1)		skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)								509				0.27	68.076964	72.853684	27	73	KEEP	---	---	---	---	capture		Silent	SNP	98242852	98242852	13184	9	C	A	A	A	223	18	PTCH1	2	2
NXF3	56000	broad.mit.edu	37	X	102337745	102337745	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102337745C>A	uc004eju.2	-	c.723G>T	c.(721-723)TCG>TCT	p.S241S	NXF3_uc010noi.1_Silent_p.S91S|NXF3_uc011mrw.1_Silent_p.S241S|NXF3_uc011mrx.1_Silent_p.S152S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	241						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.26009	152.075515	163.680839	58	165	KEEP	---	---	---	---	capture		Silent	SNP	102337745	102337745	11190	23	C	A	A	A	392	31	NXF3	1	1
TCEAL5	340543	broad.mit.edu	37	X	102529198	102529198	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102529198G>T	uc004ejz.1	-	c.294C>A	c.(292-294)AGC>AGA	p.S98R		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2														0.25	71.948314	78.941781	31	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102529198	102529198	16200	23	G	T	T	T	542	42	TCEAL5	2	2
TBC1D8B	54885	broad.mit.edu	37	X	106093413	106093413	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106093413G>T	uc004emo.2	+	c.1996G>T	c.(1996-1998)GTG>TTG	p.V666L	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	666	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.354286	184.02075	187.286375	62	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106093413	106093413	16152	23	G	T	T	T	624	48	TBC1D8B	2	2
TBC1D8B	54885	broad.mit.edu	37	X	106109130	106109130	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106109130C>G	uc004emo.2	+	c.2529C>G	c.(2527-2529)TTC>TTG	p.F843L	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	843						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.068657	-7.141993	57.297822	23	312	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106109130	106109130	16152	23	C	G	G	G	376	29	TBC1D8B	3	3
RGAG1	57529	broad.mit.edu	37	X	109696888	109696888	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109696888G>A	uc004eor.1	+	c.3043G>A	c.(3043-3045)GCC>ACC	p.A1015T	RGAG1_uc011msr.1_Missense_Mutation_p.A1015T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1015										lung(2)|ovary(1)	3														0.060674	-34.906183	54.429799	27	418	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109696888	109696888	13747	23	G	A	A	A	546	42	RGAG1	2	2
CAPN6	827	broad.mit.edu	37	X	110494829	110494829	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110494829G>C	uc004epc.1	-	c.841C>G	c.(841-843)CGC>GGC	p.R281G	CAPN6_uc011msu.1_Missense_Mutation_p.R26G	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	281	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.219876	444.460247	502.501883	177	628	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110494829	110494829	2748	23	G	C	C	C	481	37	CAPN6	3	3
TRPC5	7224	broad.mit.edu	37	X	111090460	111090460	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111090460G>T	uc004epl.1	-	c.1582C>A	c.(1582-1584)CTA>ATA	p.L528I	TRPC5_uc004epm.1_Missense_Mutation_p.L528I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	528	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.257143	163.372513	176.506873	63	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111090460	111090460	17133	23	G	T	T	T	464	36	TRPC5	2	2
AMOT	154796	broad.mit.edu	37	X	112022251	112022251	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:112022251C>G	uc004epr.2	-	c.3131G>C	c.(3130-3132)AGT>ACT	p.S1044T	AMOT_uc004eps.2_Missense_Mutation_p.S635T|AMOT_uc011mtc.1_Missense_Mutation_p.S284T	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	1044					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1														0.067308	-9.058867	51.430776	21	291	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112022251	112022251	585	23	C	G	G	G	260	20	AMOT	3	3
DOCK11	139818	broad.mit.edu	37	X	117775175	117775175	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117775175C>A	uc004eqp.2	+	c.4167C>A	c.(4165-4167)GAC>GAA	p.D1389E	DOCK11_uc004eqq.2_Missense_Mutation_p.D1168E	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1389					blood coagulation	cytosol	GTP binding			ovary(3)	3														0.224138	31.042556	35.101612	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117775175	117775175	4870	23	C	A	A	A	220	17	DOCK11	2	2
SLC25A5	292	broad.mit.edu	37	X	118604335	118604335	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118604335G>T	uc004erh.3	+	c.599_splice	c.e3-1	p.G200_splice	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143			adenine nucleotide translocator 2						chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)									0.372093	93.078974	94.314427	32	54	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118604335	118604335	15009	23	G	T	T	T	455	35	SLC25A5	5	2
NKAP	79576	broad.mit.edu	37	X	119077253	119077253	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119077253G>T	uc004esh.2	-	c.316C>A	c.(316-318)CGC>AGC	p.R106S		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	106					Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding|transcription repressor activity	p.R106C(1)		ovary(2)	2														0.238095	10.564539	11.881074	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119077253	119077253	10840	23	G	T	T	T	494	38	NKAP	1	1
ATP1B4	23439	broad.mit.edu	37	X	119509380	119509380	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119509380G>T	uc004esr.2	+	c.716G>T	c.(715-717)GGA>GTA	p.G239V	ATP1B4_uc004esq.2_Missense_Mutation_p.G235V|ATP1B4_uc011mtx.1_Missense_Mutation_p.G204V|ATP1B4_uc011mty.1_Missense_Mutation_p.G196V	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	239	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2														0.34104	150.236505	154.069185	59	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119509380	119509380	1154	23	G	T	T	T	533	41	ATP1B4	2	2
C1GALT1C1	29071	broad.mit.edu	37	X	119760088	119760088	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119760088G>T	uc004esy.2	-	c.934C>A	c.(934-936)CCA>ACA	p.P312T	C1GALT1C1_uc004esz.2_Missense_Mutation_p.P312T	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	312	Lumenal (Potential).					integral to membrane					0														0.259259	49.043762	53.29281	21	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119760088	119760088	2020	23	G	T	T	T	533	41	C1GALT1C1	2	2
SH2D1A	4068	broad.mit.edu	37	X	123504058	123504058	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123504058G>A	uc004euf.3	+	c.234G>A	c.(232-234)CGG>CGA	p.R78R	SH2D1A_uc004euh.3_Silent_p.R78R|SH2D1A_uc004eug.3_Intron|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_Non-coding_Transcript|SH2D1A_uc010nqx.2_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	SH2 domain protein 1A isoform 1	78	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity				0														0.27451	184.589638	196.237845	70	185	KEEP	---	---	---	---	capture		Silent	SNP	123504058	123504058	14721	23	G	A	A	A	522	41	SH2D1A	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125686417	125686417	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125686417C>A	uc004eul.2	-	c.175G>T	c.(175-177)GAG>TAG	p.E59*		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	59										skin(3)	3														0.291667	17.338331	18.258043	7	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125686417	125686417	4435	23	C	A	A	A	390	30	DCAF12L1	5	2
TLR7	51284	broad.mit.edu	37	X	12905189	12905189	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12905189G>T	uc004cvc.2	+	c.1562G>T	c.(1561-1563)TGC>TTC	p.C521F		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	521	Extracellular (Potential).|LRR 17.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.26506	167.374789	179.77566	66	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12905189	12905189	16486	23	G	T	T	T	598	46	TLR7	2	2
ENOX2	10495	broad.mit.edu	37	X	129799674	129799674	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129799674C>A	uc004evw.2	-	c.1044G>T	c.(1042-1044)TGG>TGT	p.W348C	ENOX2_uc004evx.2_Missense_Mutation_p.W319C|ENOX2_uc004evy.2_Missense_Mutation_p.W319C|ENOX2_uc004evv.2_Missense_Mutation_p.W175C	NM_182314	NP_872114	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	348					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						Ovarian(101;828 1506 2951 9500 35258)								0.190476	8.987673	10.868392	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129799674	129799674	5320	23	C	A	A	A	286	22	ENOX2	2	2
IGSF1	3547	broad.mit.edu	37	X	130412615	130412615	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130412615C>A	uc004ewd.2	-	c.1861G>T	c.(1861-1863)GAG>TAG	p.E621*	IGSF1_uc004ewe.3_Nonsense_Mutation_p.E615*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.E601*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	621	Extracellular (Potential).|Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.317829	105.676745	109.457663	41	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130412615	130412615	7897	23	C	A	A	A	390	30	IGSF1	5	2
USP26	83844	broad.mit.edu	37	X	132161731	132161731	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132161731G>C	uc010nrm.1	-	c.518C>G	c.(517-519)TCA>TGA	p.S173*	USP26_uc011mvf.1_Nonsense_Mutation_p.S173*	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	173					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.325	79.114075	81.292669	26	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132161731	132161731	17620	23	G	C	C	C	585	45	USP26	5	3
GPR112	139378	broad.mit.edu	37	X	135428013	135428013	+	Silent	SNP	C	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428013C>T	uc004ezu.1	+	c.2148C>T	c.(2146-2148)GCC>GCT	p.A716A	GPR112_uc010nsb.1_Silent_p.A511A|GPR112_uc010nsc.1_Silent_p.A483A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	716	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.448485	441.426034	442.189013	148	182	KEEP	---	---	---	---	capture		Silent	SNP	135428013	135428013	6903	23	C	T	T	T	262	21	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135428501	135428501	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428501C>G	uc004ezu.1	+	c.2636C>G	c.(2635-2637)ACA>AGA	p.T879R	GPR112_uc010nsb.1_Missense_Mutation_p.T674R|GPR112_uc010nsc.1_Missense_Mutation_p.T646R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	879	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.245614	563.98926	614.340682	210	645	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135428501	135428501	6903	23	C	G	G	G	221	17	GPR112	3	3
GPR112	139378	broad.mit.edu	37	X	135431946	135431946	+	Silent	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431946T>A	uc004ezu.1	+	c.6081T>A	c.(6079-6081)CCT>CCA	p.P2027P	GPR112_uc010nsb.1_Silent_p.P1822P|GPR112_uc010nsc.1_Silent_p.P1794P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2027	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.425	192.475815	193.258965	68	92	KEEP	---	---	---	---	capture		Silent	SNP	135431946	135431946	6903	23	T	A	A	A	691	54	GPR112	3	3
HTATSF1	27336	broad.mit.edu	37	X	135594124	135594124	+	Silent	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135594124T>C	uc004ezw.2	+	c.2220T>C	c.(2218-2220)ACT>ACC	p.T740T	HTATSF1_uc004ezx.2_Silent_p.T740T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	740	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.12	31.292469	66.713428	30	220	KEEP	---	---	---	---	capture		Silent	SNP	135594124	135594124	7733	23	T	C	C	C	704	55	HTATSF1	4	4
GPR101	83550	broad.mit.edu	37	X	136113088	136113088	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136113088C>A	uc011mwh.1	-	c.746G>T	c.(745-747)GGA>GTA	p.G249V		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	249	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)	4	Acute lymphoblastic leukemia(192;0.000127)													0.218519	119.576878	139.312797	59	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136113088	136113088	6896	23	C	A	A	A	390	30	GPR101	2	2
ATP11C	286410	broad.mit.edu	37	X	138844233	138844233	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138844233T>C	uc004faz.2	-	c.2536A>G	c.(2536-2538)AGG>GGG	p.R846G	ATP11C_uc004fax.2_Missense_Mutation_p.R54G|ATP11C_uc004fay.2_Non-coding_Transcript|ATP11C_uc004fba.2_Missense_Mutation_p.R846G	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	846	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.278169	240.015581	252.579407	79	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138844233	138844233	1140	23	T	C	C	C	687	53	ATP11C	4	4
ATP11C	286410	broad.mit.edu	37	X	138845533	138845533	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138845533C>A	uc004faz.2	-	c.2445G>T	c.(2443-2445)CTG>CTT	p.L815L	ATP11C_uc004fax.2_Silent_p.L23L|ATP11C_uc004fay.2_Non-coding_Transcript|ATP11C_uc004fba.2_Silent_p.L815L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	815	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.234375	38.89091	43.023192	15	49	KEEP	---	---	---	---	capture		Silent	SNP	138845533	138845533	1140	23	C	A	A	A	210	17	ATP11C	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291192	141291192	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291192G>T	uc004fbu.1	-	c.582C>A	c.(580-582)GGC>GGA	p.G194G		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	194	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.372	503.924583	511.036489	186	314	KEEP	---	---	---	---	capture		Silent	SNP	141291192	141291192	9562	23	G	T	T	T	535	42	MAGEC2	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291484	141291484	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291484T>A	uc004fbu.1	-	c.290A>T	c.(289-291)CAG>CTG	p.Q97L		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	97	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.330769	122.573618	125.87682	43	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291484	141291484	9562	23	T	A	A	A	715	55	MAGEC2	3	3
SPANXN3	139067	broad.mit.edu	37	X	142596910	142596910	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142596910C>G	uc004fbw.2	-	c.160G>C	c.(160-162)GTG>CTG	p.V54L		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	54										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.272214	572.910259	606.04342	193	516	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142596910	142596910	15500	23	C	G	G	G	221	17	SPANXN3	3	3
SPANXN3	139067	broad.mit.edu	37	X	142596921	142596921	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142596921G>T	uc004fbw.2	-	c.149C>A	c.(148-150)CCA>CAA	p.P50Q		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	50										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.274425	508.626902	540.468644	191	505	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142596921	142596921	15500	23	G	T	T	T	611	47	SPANXN3	2	2
UBE2NL	389898	broad.mit.edu	37	X	142967314	142967314	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142967314G>T	uc004fca.2	+	c.112G>T	c.(112-114)GTC>TTC	p.V38F		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	38					post-translational protein modification		acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.37931	187.899682	190.087917	66	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142967314	142967314	17424	23	G	T	T	T	572	44	UBE2NL	2	2
AFF2	2334	broad.mit.edu	37	X	148059468	148059468	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148059468C>G	uc004fcp.2	+	c.3410C>G	c.(3409-3411)GCA>GGA	p.A1137G	AFF2_uc004fcq.2_Missense_Mutation_p.A1127G|AFF2_uc004fcr.2_Missense_Mutation_p.A1098G|AFF2_uc011mxb.1_Missense_Mutation_p.A1102G|AFF2_uc004fcs.2_Missense_Mutation_p.A1102G|AFF2_uc011mxc.1_Missense_Mutation_p.A778G	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1137					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)													0.275862	229.72342	242.813884	80	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148059468	148059468	358	23	C	G	G	G	325	25	AFF2	3	3
MAGEA10	4109	broad.mit.edu	37	X	151303812	151303813	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151303812_151303813GG>TT	uc004ffk.2	-	c.280_281CC>AA	c.(280-282)CCC>AAC	p.P94N	MAGEA10_uc004ffl.2_Missense_Mutation_p.P94N	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	94											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.290323	120.716033	126.822127	45	110	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	151303812	151303813	9541	23	GG	TT	TT	TT	559	43	MAGEA10	2	2
MAGEA10	4109	broad.mit.edu	37	X	151304022	151304022	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151304022C>A	uc004ffk.2	-	c.71G>T	c.(70-72)GGC>GTC	p.G24V	MAGEA10_uc004ffl.2_Missense_Mutation_p.G24V	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	24											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.273973	47.646823	50.959828	20	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151304022	151304022	9541	23	C	A	A	A	338	26	MAGEA10	2	2
L1CAM	3897	broad.mit.edu	37	X	153132828	153132828	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153132828A>G	uc004fjb.2	-	c.2120T>C	c.(2119-2121)GTG>GCG	p.V707A	L1CAM_uc004fjc.2_Missense_Mutation_p.V707A|L1CAM_uc010nuo.2_Missense_Mutation_p.V702A	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	707	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)													0.333333	29.225108	30.143282	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153132828	153132828	8911	23	A	G	G	G	78	6	L1CAM	4	4
EMD	2010	broad.mit.edu	37	X	153609453	153609453	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153609453C>G	uc004fkl.2	+	c.661C>G	c.(661-663)CGC>GGC	p.R221G		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	221	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.285714	8.299645	8.873756	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153609453	153609453	5279	23	C	G	G	G	403	31	EMD	3	3
RPL10	6134	broad.mit.edu	37	X	153627737	153627737	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153627737G>A	uc004fkm.2	+	c.82G>A	c.(82-84)GAT>AAT	p.D28N	RPL10_uc004fko.2_Missense_Mutation_p.D28N|RPL10_uc004fkn.1_Missense_Mutation_p.D28N|RPL10_uc004fkp.1_Missense_Mutation_p.D28N|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	28					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.558824	56.709949	56.81045	19	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153627737	153627737	14033	23	G	A	A	A	611	47	RPL10	2	2
CA5B	11238	broad.mit.edu	37	X	15794885	15794885	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:15794885A>G	uc004cxe.2	+	c.667A>G	c.(667-669)ACC>GCC	p.T223A		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial precursor	223					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding				0	Hepatocellular(33;0.183)													0.352941	76.691816	77.983132	24	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15794885	15794885	2636	23	A	G	G	G	182	14	CA5B	4	4
DCAF8L1	139425	broad.mit.edu	37	X	27998033	27998033	+	Silent	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27998033G>T	uc004dbx.1	-	c.1419C>A	c.(1417-1419)ATC>ATA	p.I473I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	473	WD 6.									ovary(3)	3														0.25	17.514865	19.103406	7	21	KEEP	---	---	---	---	capture		Silent	SNP	27998033	27998033	4448	23	G	T	T	T	525	41	DCAF8L1	2	2
MAGEB1	4112	broad.mit.edu	37	X	30269348	30269348	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30269348C>A	uc004dcc.2	+	c.738C>A	c.(736-738)ACC>ACA	p.T246T	MAGEB1_uc004dcd.2_Silent_p.T246T|MAGEB1_uc004dce.2_Silent_p.T246T	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	246	MAGE.										0														0.333333	42.310415	43.417236	15	30	KEEP	---	---	---	---	capture		Silent	SNP	30269348	30269348	9553	23	C	A	A	A	275	22	MAGEB1	2	2
DMD	1756	broad.mit.edu	37	X	31854905	31854905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31854905G>T	uc004dda.1	-	c.7130C>A	c.(7129-7131)CCG>CAG	p.P2377Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.P1033Q|DMD_uc004dcx.2_Missense_Mutation_p.P1036Q|DMD_uc004dcz.2_Missense_Mutation_p.P2254Q|DMD_uc004dcy.1_Missense_Mutation_p.P2373Q|DMD_uc004ddb.1_Missense_Mutation_p.P2369Q|DMD_uc004ddd.1_5'UTR	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2377					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.349057	106.7365	108.870406	37	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31854905	31854905	4760	23	G	T	T	T	507	39	DMD	1	1
DMD	1756	broad.mit.edu	37	X	32382752	32382752	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32382752G>T	uc004dda.1	-	c.5101C>A	c.(5101-5103)CTT>ATT	p.L1701I	DMD_uc004dcw.2_Missense_Mutation_p.L357I|DMD_uc004dcx.2_Missense_Mutation_p.L360I|DMD_uc004dcz.2_Missense_Mutation_p.L1578I|DMD_uc004dcy.1_Missense_Mutation_p.L1697I|DMD_uc004ddb.1_Missense_Mutation_p.L1693I|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1701	Spectrin 12.|Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.245614	36.725161	40.081777	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32382752	32382752	4760	23	G	T	T	T	468	36	DMD	2	2
LANCL3	347404	broad.mit.edu	37	X	37515063	37515063	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37515063G>T	uc011mkd.1	+	c.696G>T	c.(694-696)TTG>TTT	p.L232F	LANCL3_uc004ddp.1_Missense_Mutation_p.L232F	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	232							catalytic activity				0														0.297297	63.024663	65.741075	22	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37515063	37515063	8945	23	G	T	T	T	607	47	LANCL3	2	2
FAM123B	139285	broad.mit.edu	37	X	63409901	63409901	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63409901C>A	uc004dvo.2	-	c.3266G>T	c.(3265-3267)AGG>ATG	p.R1089M		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	1089	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.588235	31.752031	31.867449	10	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63409901	63409901	5620	23	C	A	A	A	312	24	FAM123B	2	2
OPHN1	4983	broad.mit.edu	37	X	67283822	67283822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67283822G>A	uc004dww.3	-	c.2032C>T	c.(2032-2034)CAG>TAG	p.Q678*	OPHN1_uc011mpg.1_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	678	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2														0.56338	115.794291	116.041065	40	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67283822	67283822	11281	23	G	A	A	A	598	46	OPHN1	5	2
IL2RG	3561	broad.mit.edu	37	X	70328489	70328489	+	Silent	SNP	A	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70328489A>G	uc004dyw.1	-	c.814T>C	c.(814-816)TTG>CTG	p.L272L	CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Intron|IL2RG_uc004dyx.1_Silent_p.L82L	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	272	Helical; (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)									0.583333	46.251915	46.397052	14	10	KEEP	---	---	---	---	capture		Silent	SNP	70328489	70328489	7989	23	A	G	G	G	50	4	IL2RG	4	4
UPRT	139596	broad.mit.edu	37	X	74519637	74519637	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:74519637G>T	uc004ecb.1	+	c.630G>T	c.(628-630)CAG>CAT	p.Q210H	UPRT_uc004ecc.1_Non-coding_Transcript|UPRT_uc004ecd.1_Missense_Mutation_p.Q210H|UPRT_uc004ece.1_Missense_Mutation_p.Q74H	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	210					nucleoside metabolic process	cytoplasm|nucleus					0														0.04878	-9.873426	7.873324	4	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74519637	74519637	17575	23	G	T	T	T	425	33	UPRT	2	2
ITM2A	9452	broad.mit.edu	37	X	78618572	78618572	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78618572C>A	uc004edh.2	-	c.308G>T	c.(307-309)GGA>GTA	p.G103V	ITM2A_uc011mqr.1_Missense_Mutation_p.G59V	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	103						integral to membrane	protein binding			lung(2)	2														0.526316	28.74486	28.756033	10	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78618572	78618572	8216	23	C	A	A	A	390	30	ITM2A	2	2
PNPLA4	8228	broad.mit.edu	37	X	7894005	7894005	+	Silent	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:7894005C>A	uc011mhq.1	-	c.156G>T	c.(154-156)CTG>CTT	p.L52L	PNPLA4_uc011mhr.1_Silent_p.L52L|PNPLA4_uc011mhs.1_Intron	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	52	Patatin.				lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)										OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.518519	44.450646	44.458689	14	13	KEEP	---	---	---	---	capture		Silent	SNP	7894005	7894005	12594	23	C	A	A	A	314	25	PNPLA4	2	2
FAM46D	169966	broad.mit.edu	37	X	79698089	79698089	+	Silent	SNP	G	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79698089G>A	uc004edl.1	+	c.51G>A	c.(49-51)CTG>CTA	p.L17L	FAM46D_uc004edm.1_Silent_p.L17L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	17										lung(2)	2														0.65	42.579959	42.976577	13	7	KEEP	---	---	---	---	capture		Silent	SNP	79698089	79698089	5789	23	G	A	A	A	600	47	FAM46D	2	2
FAM46D	169966	broad.mit.edu	37	X	79698091	79698091	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79698091A>T	uc004edl.1	+	c.53A>T	c.(52-54)GAT>GTT	p.D18V	FAM46D_uc004edm.1_Missense_Mutation_p.D18V	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	18										lung(2)	2														0.636364	44.75529	45.115466	14	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79698091	79698091	5789	23	A	T	T	T	156	12	FAM46D	3	3
CHM	1121	broad.mit.edu	37	X	85212932	85212932	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85212932C>A	uc004eet.2	-	c.868G>T	c.(868-870)GTA>TTA	p.V290L	CHM_uc011mqz.1_Missense_Mutation_p.V142L	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	290					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)												0.410256	47.698757	47.971235	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85212932	85212932	3484	23	C	A	A	A	234	18	CHM	2	2
TSPAN6	7105	broad.mit.edu	37	X	99890233	99890233	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99890233G>T	uc004ega.1	-	c.293C>A	c.(292-294)ACT>AAT	p.T98N	TSPAN6_uc010nna.1_Missense_Mutation_p.T4N	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	98	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1														0.28125	23.760727	25.137585	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99890233	99890233	17202	23	G	T	T	T	468	36	TSPAN6	2	2
SYTL4	94121	broad.mit.edu	37	X	99933578	99933578	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99933578C>A	uc004egd.3	-	c.1677G>T	c.(1675-1677)AGG>AGT	p.R559S	SYTL4_uc004egc.2_5'UTR|SYTL4_uc010nnb.2_Missense_Mutation_p.R231S|SYTL4_uc010nnc.2_Missense_Mutation_p.R559S|SYTL4_uc004ege.3_Missense_Mutation_p.R559S|SYTL4_uc004egf.3_Missense_Mutation_p.R559S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	559	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.266949	145.311521	156.835131	63	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99933578	99933578	16006	23	C	A	A	A	389	30	SYTL4	2	2
SYTL4	94121	broad.mit.edu	37	X	99956282	99956282	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99956282C>A	uc004egd.3	-	c.370G>T	c.(370-372)GTG>TTG	p.V124L	SYTL4_uc010nnc.2_Missense_Mutation_p.V124L|SYTL4_uc004ege.3_Missense_Mutation_p.V124L|SYTL4_uc004egf.3_Missense_Mutation_p.V124L|SYTL4_uc004egg.3_Missense_Mutation_p.V124L	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	124					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.210526	44.55506	51.915301	20	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99956282	99956282	16006	23	C	A	A	A	260	20	SYTL4	2	2
SETBP1	26040	broad.mit.edu	37	18	42532214	42532214	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42532214_42532214delC	uc010dni.2	+	c.2909_2909delC	c.(2908-2910)TCCfs	p.S970fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	970						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.32			45	95		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	42532214	42532214	14617	18	C	-	-	-	390	30	SETBP1	5	5
FFAR1	2864	broad.mit.edu	37	19	35843336	35843337	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35843336_35843337insG	uc002nzc.2	+	c.882_883insG	c.(880-885)CAAGGGfs	p.Q294fs		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	294_295	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	35843336	35843337	6064	19	-	G	G	G	37	3	FFAR1	5	5
SSBP3	23648	broad.mit.edu	37	1	54747155	54747156	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:54747155_54747156insG	uc001cxe.2	-	c.321_322insC	c.(319-324)CCCAACfs	p.P107fs	SSBP3_uc001cxf.2_Frame_Shift_Ins_p.P107fs|SSBP3_uc001cxg.2_Frame_Shift_Ins_p.P107fs	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	107_108	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding|transcription regulator activity				0														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	54747155	54747156	15696	1	-	G	G	G	819	63	SSBP3	5	5
SEMG1	6406	broad.mit.edu	37	20	43836227	43836228	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43836227_43836228insA	uc002xni.2	+	c.289_290insA	c.(289-291)CAAfs	p.Q97fs	SEMG1_uc002xnj.2_Frame_Shift_Ins_p.Q97fs|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Frame_Shift_Ins_p.Q97fs	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	97					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity				0		Myeloproliferative disorder(115;0.0122)												0.30			37	86		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	43836227	43836228	14530	20	-	A	A	A	221	17	SEMG1	5	5
ZBTB46	140685	broad.mit.edu	37	20	62407137	62407138	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62407137_62407138delCG	uc002ygv.1	-	c.1115_1116delCG	c.(1114-1116)GCGfs	p.A372fs	ZBTB46_uc002ygu.2_Non-coding_Transcript	NM_025224	NP_079500	Q6ZMU8	Q6ZMU8_HUMAN	zinc finger and BTB domain containing 46	372						nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)													0.38			6	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	62407137	62407138	18134	20	CG	-	-	-	288	23	ZBTB46	5	5
DHX36	170506	broad.mit.edu	37	3	154027551	154027551	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154027551_154027551delC	uc003ezy.3	-	c.704_704delG	c.(703-705)GGCfs	p.G235fs	DHX36_uc010hvq.2_Frame_Shift_Del_p.G235fs|DHX36_uc003ezz.3_Frame_Shift_Del_p.G235fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	235	Helicase ATP-binding.|ATP (By similarity).					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.44			8	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	154027551	154027551	4688	3	C	-	-	-	338	26	DHX36	5	5
SATB1	6304	broad.mit.edu	37	3	18427992	18427993	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:18427992_18427993delTT	uc003cbi.2	-	c.1317_1318delAA	c.(1315-1320)GAAAGAfs	p.E439fs	SATB1_uc003cbh.2_Frame_Shift_Del_p.E439fs|SATB1_uc003cbj.2_Frame_Shift_Del_p.E439fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	439_440	CUT 1.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			ovary(1)|lung(1)|skin(1)	3														0.45			30	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	18427992	18427993	14334	3	TT	-	-	-	726	56	SATB1	5	5
STAB1	23166	broad.mit.edu	37	3	52536029	52536030	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52536029_52536030insG	uc003dej.2	+	c.339_340insG	c.(337-342)CCTGGGfs	p.P113fs	STAB1_uc003dei.1_Frame_Shift_Ins_p.P113fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	113_114	EGF-like 1.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	52536029	52536030	15755	3	-	G	G	G	704	55	STAB1	5	5
PPARGC1A	10891	broad.mit.edu	37	4	23803407	23803408	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23803407_23803408insA	uc003gqs.2	-	c.2238_2239insT	c.(2236-2241)TTTGAGfs	p.F746fs	PPARGC1A_uc003gqt.2_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	746_747	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.34			20	38		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	23803407	23803408	12730	4	-	A	A	A	377	29	PPARGC1A	5	5
LAMA2	3908	broad.mit.edu	37	6	129725087	129725087	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129725087_129725087delC	uc003qbn.2	+	c.5848_5848delC	c.(5848-5850)CATfs	p.H1950fs	LAMA2_uc003qbo.2_Frame_Shift_Del_p.H1950fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1950	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.31			26	57		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	129725087	129725087	8929	6	C	-	-	-	221	17	LAMA2	5	5
TNXB	7148	broad.mit.edu	37	6	32047089	32047089	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32047089_32047089delC	uc003nzl.2	-	c.4096_4096delG	c.(4096-4098)GCCfs	p.A1366fs		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1453					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.38			21	35		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	32047089	32047089	16887	6	C	-	-	-	338	26	TNXB	5	5
ZCCHC13	389874	broad.mit.edu	37	X	73524478	73524478	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z045-01	TCGA-17-Z045-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73524478_73524478delC	uc004ebs.3	+	c.377_377delC	c.(376-378)GCCfs	p.A126fs		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	126	CCHC-type 5.						nucleic acid binding|zinc ion binding				0														0.40			22	33		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	73524478	73524478	18170	23	C	-	-	-	338	26	ZCCHC13	5	5
