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
PDCD11	22984	broad.mit.edu	37	10	105173785	105173785	+	Silent	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105173785T>C	uc001kwy.1	+	c.1248T>C	c.(1246-1248)ACT>ACC	p.T416T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	416	S1 motif 4.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)						545				0.122449	9.715729	16.552662	6	43	KEEP	---	---	---	---	capture		Silent	SNP	105173785	105173785	12038	10	T	C	C	C	691	54	PDCD11	4	4
SORCS1	114815	broad.mit.edu	37	10	108412234	108412234	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108412234C>A	uc001kyl.2	-	c.2381G>T	c.(2380-2382)GGG>GTG	p.G794V	SORCS1_uc001kym.2_Missense_Mutation_p.G794V|SORCS1_uc009xxs.2_Missense_Mutation_p.G794V|SORCS1_uc001kyn.1_Missense_Mutation_p.G794V|SORCS1_uc001kyo.2_Missense_Mutation_p.G794V	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	794	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.259259	36.425445	39.259782	14	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108412234	108412234	15430	10	C	A	A	A	286	22	SORCS1	2	2
SORCS1	114815	broad.mit.edu	37	10	108459151	108459151	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108459151C>G	uc001kyl.2	-	c.1234G>C	c.(1234-1236)GAC>CAC	p.D412H	SORCS1_uc001kym.2_Missense_Mutation_p.D412H|SORCS1_uc009xxs.2_Missense_Mutation_p.D412H|SORCS1_uc001kyn.1_Missense_Mutation_p.D412H|SORCS1_uc001kyo.2_Missense_Mutation_p.D412H	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	412	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.277778	30.036702	31.634782	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108459151	108459151	15430	10	C	G	G	G	390	30	SORCS1	3	3
ATRNL1	26033	broad.mit.edu	37	10	117001379	117001379	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117001379G>T	uc001lcg.2	+	c.1552G>T	c.(1552-1554)GGG>TGG	p.G518W		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	518	Kelch 4.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.333333	19.718129	20.234678	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117001379	117001379	1226	10	G	T	T	T	611	47	ATRNL1	2	2
BMS1	9790	broad.mit.edu	37	10	43292056	43292056	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43292056G>T	uc001jaj.2	+	c.1364G>T	c.(1363-1365)GGG>GTG	p.G455V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	455					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.121495	14.508776	29.523394	13	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43292056	43292056	1497	10	G	T	T	T	559	43	BMS1	2	2
ERCC6	2074	broad.mit.edu	37	10	50668435	50668435	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50668435G>T	uc001jhs.3	-	c.4046C>A	c.(4045-4047)CCA>CAA	p.P1349Q	ERCC6_uc009xod.2_Missense_Mutation_p.P509Q|ERCC6_uc010qgr.1_Missense_Mutation_p.P719Q|ERCC6_uc001jhr.3_Missense_Mutation_p.P717Q	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1349					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding|transcription elongation regulator activity			breast(5)|ovary(2)|large_intestine(2)|lung(1)	10										738				0.254545	37.122573	40.130631	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50668435	50668435	5410	10	G	T	T	T	611	47	ERCC6	2	2
ANK3	288	broad.mit.edu	37	10	61836088	61836088	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61836088G>A	uc001jky.2	-	c.4551C>T	c.(4549-4551)GCC>GCT	p.A1517A	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1517					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.256098	53.536394	57.960847	21	61	KEEP	---	---	---	---	capture		Silent	SNP	61836088	61836088	625	10	G	A	A	A	600	47	ANK3	2	2
ANKRD1	27063	broad.mit.edu	37	10	92677534	92677534	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:92677534C>A	uc001khe.1	-	c.507G>T	c.(505-507)GTG>GTT	p.V169V		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	169	ANK 1.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)												0.257143	48.418023	52.159776	18	52	KEEP	---	---	---	---	capture		Silent	SNP	92677534	92677534	640	10	C	A	A	A	262	21	ANKRD1	2	2
MYOF	26509	broad.mit.edu	37	10	95152686	95152686	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95152686C>G	uc001kin.2	-	c.1444G>C	c.(1444-1446)GCA>CCA	p.A482P	MYOF_uc001kio.2_Intron	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	482	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4														0.227778	116.180829	128.418825	41	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95152686	95152686	10484	10	C	G	G	G	325	25	MYOF	3	3
CYP2C8	1558	broad.mit.edu	37	10	96802716	96802716	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96802716G>A	uc001kkb.2	-	c.1080C>T	c.(1078-1080)GAC>GAT	p.D360D	CYP2C8_uc001kkc.2_Non-coding_Transcript|CYP2C8_uc010qoa.1_Silent_p.D290D|CYP2C8_uc010qob.1_Silent_p.D274D|CYP2C8_uc010qoc.1_Silent_p.D258D|CYP2C8_uc010qod.1_Silent_p.D274D	NM_000770	NP_000761	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C,	360					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding				0		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)									0.363636	110.053963	111.858992	40	70	KEEP	---	---	---	---	capture		Silent	SNP	96802716	96802716	4332	10	G	A	A	A	568	44	CYP2C8	2	2
HTR3A	3359	broad.mit.edu	37	11	113857446	113857446	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113857446C>A	uc010rxb.1	+	c.930C>A	c.(928-930)CTC>CTA	p.L310L	HTR3A_uc010rxa.1_Silent_p.L310L|HTR3A_uc009yyx.2_Non-coding_Transcript|HTR3A_uc010rxc.1_Silent_p.L289L	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	304	Helical; Name=3; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)									0.226415	27.371033	31.014785	12	41	KEEP	---	---	---	---	capture		Silent	SNP	113857446	113857446	7744	11	C	A	A	A	366	29	HTR3A	2	2
FAM55A	120400	broad.mit.edu	37	11	114392743	114392743	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:114392743G>T	uc001ppa.2	-	c.1165C>A	c.(1165-1167)CCT>ACT	p.P389T	FAM55A_uc010rxd.1_Missense_Mutation_p.P238T	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	531						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)										0.155738	34.477022	48.260355	19	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114392743	114392743	5806	11	G	T	T	T	572	44	FAM55A	2	2
SIK3	23387	broad.mit.edu	37	11	116747710	116747710	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116747710C>A	uc001ppy.2	-	c.740G>T	c.(739-741)CGC>CTC	p.R247L	SIK3_uc001ppz.2_Missense_Mutation_p.R146L|SIK3_uc001pqa.2_Missense_Mutation_p.R247L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	247	Protein kinase.				protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|breast(2)|lung(1)|kidney(1)|skin(1)	8										634				0.240506	49.044258	53.858959	19	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116747710	116747710	14814	11	C	A	A	A	351	27	SIK3	1	1
PHLDB1	23187	broad.mit.edu	37	11	118498238	118498238	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118498238G>T	uc001ptr.1	+	c.699G>T	c.(697-699)CTG>CTT	p.L233L	PHLDB1_uc010ryh.1_Silent_p.L232L|PHLDB1_uc001pts.2_Silent_p.L233L|PHLDB1_uc001ptt.2_Silent_p.L233L|PHLDB1_uc001ptu.1_Non-coding_Transcript|PHLDB1_uc001ptv.1_Silent_p.L33L|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	233											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)										0.247706	66.418483	72.708754	27	82	KEEP	---	---	---	---	capture		Silent	SNP	118498238	118498238	12275	11	G	T	T	T	613	48	PHLDB1	2	2
NLRX1	79671	broad.mit.edu	37	11	119045890	119045890	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119045890G>T	uc001pvu.2	+	c.1578G>T	c.(1576-1578)GTG>GTT	p.V526V	NLRX1_uc010rzc.1_Silent_p.V348V|NLRX1_uc001pvv.2_Silent_p.V526V|NLRX1_uc001pvw.2_Silent_p.V526V|NLRX1_uc001pvx.2_Silent_p.V526V	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	526	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.166667	6.591908	9.036681	4	20	KEEP	---	---	---	---	capture		Silent	SNP	119045890	119045890	10888	11	G	T	T	T	600	47	NLRX1	2	2
CRTAM	56253	broad.mit.edu	37	11	122722484	122722484	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122722484G>T	uc001pyj.2	+	c.277G>T	c.(277-279)GAA>TAA	p.E93*		NM_019604	NP_062550	O95727	CRTAM_HUMAN	class-I MHC-restricted T cell associated	93	Ig-like V-type.|Extracellular (Potential).				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			ovary(1)	1		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)										0.166667	21.150809	28.74087	12	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122722484	122722484	4036	11	G	T	T	T	585	45	CRTAM	5	2
ROBO4	54538	broad.mit.edu	37	11	124756441	124756441	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124756441G>T	uc001qbg.2	-	c.2713C>A	c.(2713-2715)CAC>AAC	p.H905N	ROBO4_uc010sas.1_Missense_Mutation_p.H760N|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.H463N	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	905					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)										0.363636	17.047603	17.425202	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124756441	124756441	13995	11	G	T	T	T	585	45	ROBO4	2	2
FLI1	2313	broad.mit.edu	37	11	128680587	128680587	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128680587A>T	uc010sbu.1	+	c.1063A>T	c.(1063-1065)AGA>TGA	p.R355*	FLI1_uc010sbt.1_Nonsense_Mutation_p.R162*|FLI1_uc010sbv.1_Nonsense_Mutation_p.R322*|FLI1_uc009zci.2_Nonsense_Mutation_p.R289*	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	355	ETS.				hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)					p.R355R(SW900-Tumor)	400				0.265625	40.44027	43.622241	17	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128680587	128680587	6162	11	A	T	T	T	36	3	FLI1	5	3
SAAL1	113174	broad.mit.edu	37	11	18105129	18105129	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18105129C>A	uc009yhf.2	-	c.1198G>T	c.(1198-1200)GAT>TAT	p.D400Y	SAAL1_uc001mnq.2_Missense_Mutation_p.D398Y|SAAL1_uc001mnr.2_Missense_Mutation_p.D397Y|SAAL1_uc001mns.2_Non-coding_Transcript	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	398					acute-phase response	extracellular region	binding				0														0.266667	19.385623	20.861718	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18105129	18105129	14281	11	C	A	A	A	390	30	SAAL1	2	2
RCN1	5954	broad.mit.edu	37	11	32122135	32122136	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32122135_32122136GG>TT	uc010reb.1	+	c.669_670GG>TT	c.(667-672)GTGGAT>GTTTAT	p.D224Y	RCN1_uc010rea.1_Missense_Mutation_p.D173Y|RCN1_uc001mtk.2_Missense_Mutation_p.D58Y	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	224	4 (Potential).|EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)													0.115385	6.955296	14.496555	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32122135	32122136	13648	11	GG	TT	TT	TT	600	47	RCN1	2	2
OR52J3	119679	broad.mit.edu	37	11	5068378	5068378	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5068378T>C	uc010qyv.1	+	c.623T>C	c.(622-624)TTT>TCT	p.F208S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.333333	131.774907	134.891549	42	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5068378	5068378	11532	11	T	C	C	C	832	64	OR52J3	4	4
OR4S2	219431	broad.mit.edu	37	11	55419256	55419256	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55419256A>G	uc001nhs.1	+	c.877A>G	c.(877-879)AAG>GAG	p.K293E		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.171717	38.413434	48.497554	17	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55419256	55419256	11493	11	A	G	G	G	13	1	OR4S2	4	4
OR5M11	219487	broad.mit.edu	37	11	56310370	56310370	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310370A>G	uc010rjl.1	-	c.364T>C	c.(364-366)TAT>CAT	p.Y122H		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.09434	4.245611	12.99662	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56310370	56310370	11584	11	A	G	G	G	195	15	OR5M11	4	4
OR5M1	390168	broad.mit.edu	37	11	56380754	56380754	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380754G>A	uc001nja.1	-	c.225C>T	c.(223-225)TCC>TCT	p.S75S		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.245033	92.398566	101.342502	37	114	KEEP	---	---	---	---	capture		Silent	SNP	56380754	56380754	11582	11	G	A	A	A	600	47	OR5M1	2	2
OR52N1	79473	broad.mit.edu	37	11	5809704	5809704	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5809704C>T	uc010qzo.1	-	c.343G>A	c.(343-345)GGG>AGG	p.G115R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	115	Helical; Name=3; (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;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.220183	55.904338	63.810344	24	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5809704	5809704	11537	11	C	T	T	T	273	21	OR52N1	2	2
GLYATL1	92292	broad.mit.edu	37	11	58722740	58722740	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58722740G>A	uc001nnh.1	+	c.498G>A	c.(496-498)ACG>ACA	p.T166T	GLYATL1_uc001nnf.2_Silent_p.T135T|GLYATL1_uc001nni.1_Silent_p.T135T|GLYATL1_uc001nnj.1_Silent_p.T135T	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)									0.265306	69.806879	74.684857	26	72	KEEP	---	---	---	---	capture		Silent	SNP	58722740	58722740	6748	11	G	A	A	A	496	39	GLYATL1	1	1
ZNF215	7762	broad.mit.edu	37	11	6977244	6977244	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6977244G>T	uc001mey.2	+	c.1036G>T	c.(1036-1038)GAC>TAC	p.D346Y	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.D108Y|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	346					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)										0.309091	46.152589	47.939922	17	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6977244	6977244	18362	11	G	T	T	T	429	33	ZNF215	2	2
ODZ4	26011	broad.mit.edu	37	11	78381153	78381153	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78381153G>A	uc001ozl.3	-	c.6237C>T	c.(6235-6237)GCC>GCT	p.A2079A	ODZ4_uc001ozk.3_Silent_p.A304A|ODZ4_uc009yvb.1_Silent_p.A663A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2079	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.269231	18.512889	19.762775	7	19	KEEP	---	---	---	---	capture		Silent	SNP	78381153	78381153	11242	11	G	A	A	A	548	43	ODZ4	2	2
TYR	7299	broad.mit.edu	37	11	88911387	88911387	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88911387G>T	uc001pcs.2	+	c.266G>T	c.(265-267)TGC>TTC	p.C89F		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	89	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.121951	6.344816	12.085319	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88911387	88911387	17370	11	G	T	T	T	598	46	TYR	2	2
UHRF1BP1L	23074	broad.mit.edu	37	12	100451511	100451511	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100451511C>A	uc001tgq.2	-	c.3262G>T	c.(3262-3264)GAA>TAA	p.E1088*	UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.E738*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1088										ovary(1)	1														0.4	11.497736	11.585263	4	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100451511	100451511	17527	12	C	A	A	A	390	30	UHRF1BP1L	5	2
STAB2	55576	broad.mit.edu	37	12	104149122	104149122	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104149122C>A	uc001tjw.2	+	c.6757C>A	c.(6757-6759)CGG>AGG	p.R2253R	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2253	Extracellular (Potential).|Link.			R -> G (in Ref. 5; BAD18723).	angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.272727	37.507706	40.064695	15	40	KEEP	---	---	---	---	capture		Silent	SNP	104149122	104149122	15756	12	C	A	A	A	347	27	STAB2	1	1
LST-3TM12	338821	broad.mit.edu	37	12	21207544	21207544	+	Silent	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21207544T>G	uc010sim.1	+	c.1656T>G	c.(1654-1656)CTT>CTG	p.L552L	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sin.1_Silent_p.L505L	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	505						membrane	transporter activity				0														0.434783	35.448273	35.533272	10	13	KEEP	---	---	---	---	capture		Silent	SNP	21207544	21207544	9442	12	T	G	G	G	782	61	LST-3TM12	4	4
GYS2	2998	broad.mit.edu	37	12	21757474	21757474	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21757474C>A	uc001rfb.2	-	c.53G>T	c.(52-54)TGG>TTG	p.W18L		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	18					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity				0						Colon(149;9 1820 3690 10544 50424)								0.4	72.386103	72.911431	24	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21757474	21757474	7193	12	C	A	A	A	273	21	GYS2	2	2
ITPR2	3709	broad.mit.edu	37	12	26572062	26572062	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26572062T>C	uc001rhg.2	-	c.7030A>G	c.(7030-7032)ATG>GTG	p.M2344V	ITPR2_uc009zjg.1_Missense_Mutation_p.M495V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2344	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.204082	25.027508	29.006007	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26572062	26572062	8225	12	T	C	C	C	637	49	ITPR2	4	4
ITPR2	3709	broad.mit.edu	37	12	26636691	26636691	+	Silent	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26636691C>G	uc001rhg.2	-	c.5952G>C	c.(5950-5952)CTG>CTC	p.L1984L	ITPR2_uc009zjg.1_Silent_p.L135L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1984	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.2	41.311679	50.106712	21	84	KEEP	---	---	---	---	capture		Silent	SNP	26636691	26636691	8225	12	C	G	G	G	262	21	ITPR2	3	3
DENND5B	160518	broad.mit.edu	37	12	31632547	31632547	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31632547T>C	uc001rkh.1	-	c.985A>G	c.(985-987)ATG>GTG	p.M329V	DENND5B_uc001rki.1_Missense_Mutation_p.M294V|DENND5B_uc009zjq.1_Missense_Mutation_p.M213V|DENND5B_uc001rkj.2_Missense_Mutation_p.M316V|DENND5B_uc001rkk.1_Missense_Mutation_p.M216V	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	294	DENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.222222	8.889886	10.168176	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31632547	31632547	4616	12	T	C	C	C	650	50	DENND5B	4	4
CAND1	55832	broad.mit.edu	37	12	67699344	67699344	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:67699344G>A	uc001stn.2	+	c.1896G>A	c.(1894-1896)TTG>TTA	p.L632L	CAND1_uc001sto.2_Silent_p.L142L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	632	HEAT 14.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)										0.074468	-3.354795	14.132317	7	87	KEEP	---	---	---	---	capture		Silent	SNP	67699344	67699344	2732	12	G	A	A	A	581	45	CAND1	2	2
TRHDE	29953	broad.mit.edu	37	12	72680615	72680615	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72680615G>C	uc001sxa.2	+	c.934G>C	c.(934-936)GAG>CAG	p.E312Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	312	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.088235	4.995825	16.650784	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72680615	72680615	17023	12	G	C	C	C	585	45	TRHDE	3	3
TRHDE	29953	broad.mit.edu	37	12	73012754	73012754	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:73012754C>T	uc001sxa.2	+	c.2270C>T	c.(2269-2271)GCC>GTC	p.A757V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	757	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.266667	21.112486	22.571451	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73012754	73012754	17023	12	C	T	T	T	338	26	TRHDE	2	2
C12orf12	196477	broad.mit.edu	37	12	91347827	91347827	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91347827G>A	uc001tbj.2	-	c.693C>T	c.(691-693)TCC>TCT	p.S231S		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	231										central_nervous_system(1)|pancreas(1)	2														0.064516	-3.251393	8.970393	4	58	KEEP	---	---	---	---	capture		Silent	SNP	91347827	91347827	1720	12	G	A	A	A	496	39	C12orf12	1	1
CENPJ	55835	broad.mit.edu	37	13	25459510	25459511	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25459510_25459511CC>AA	uc001upt.3	-	c.3380_3381GG>TT	c.(3379-3381)AGG>ATT	p.R1127I	CENPJ_uc010tdf.1_Non-coding_Transcript|CENPJ_uc010aae.2_Non-coding_Transcript|CENPJ_uc010aaf.2_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1127					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)										0.166667	14.098288	18.522907	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	25459510	25459511	3367	13	CC	AA	AA	AA	285	22	CENPJ	2	2
FLT1	2321	broad.mit.edu	37	13	28895700	28895700	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28895700G>C	uc001usb.3	-	c.3074C>G	c.(3073-3075)GCG>GGG	p.A1025G	FLT1_uc010aap.2_Missense_Mutation_p.A30G|FLT1_uc010aaq.2_Missense_Mutation_p.A150G|FLT1_uc001usa.3_Missense_Mutation_p.A243G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1025	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A1025E(1)		lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.212121	37.563415	42.583232	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28895700	28895700	6183	13	G	C	C	C	494	38	FLT1	3	3
BRCA2	675	broad.mit.edu	37	13	32912687	32912687	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32912687T>C	uc001uub.1	+	c.4195T>C	c.(4195-4197)TGT>CGT	p.C1399R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1399					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.136364	3.511023	6.329494	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32912687	32912687	1530	13	T	C	C	C	663	51	BRCA2	4	4
C13orf18	80183	broad.mit.edu	37	13	46919590	46919590	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46919590C>A	uc010acl.2	-	c.1777G>T	c.(1777-1779)GGC>TGC	p.G593C	C13orf18_uc010tfy.1_Missense_Mutation_p.G116C|C13orf18_uc001vbf.3_Missense_Mutation_p.G526C|C13orf18_uc001vbg.3_Missense_Mutation_p.G321C|C13orf18_uc010tfz.1_Missense_Mutation_p.G436C|C13orf18_uc010acm.2_Missense_Mutation_p.G458C|C13orf18_uc010acn.2_Missense_Mutation_p.G378C|C13orf18_uc001vbe.3_Intron|C13orf18_uc001vbh.3_Missense_Mutation_p.G593C|C13orf18_uc001vbi.3_Missense_Mutation_p.G436C	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	593											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)										0.421053	24.496539	24.599956	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46919590	46919590	1767	13	C	A	A	A	273	21	C13orf18	2	2
NEK5	341676	broad.mit.edu	37	13	52667205	52667205	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52667205G>T	uc001vge.2	-	c.1193C>A	c.(1192-1194)CCA>CAA	p.P398Q	NEK5_uc001vgf.2_Missense_Mutation_p.P398Q	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	398					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity				0		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)						495				0.342857	34.287455	35.051919	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52667205	52667205	10726	13	G	T	T	T	611	47	NEK5	2	2
NEK3	4752	broad.mit.edu	37	13	52710350	52710350	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52710350T>C	uc001vgh.2	-	c.1088A>G	c.(1087-1089)CAT>CGT	p.H363R	NEK3_uc001vgg.2_Missense_Mutation_p.H336R|NEK3_uc001vgi.2_Missense_Mutation_p.H359R|NEK3_uc010tgx.1_Non-coding_Transcript|NEK3_uc010tgy.1_Missense_Mutation_p.H342R	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform b	359					cell division|mitosis|protein phosphorylation	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)						244				0.163265	11.464976	16.751647	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52710350	52710350	10724	13	T	C	C	C	663	51	NEK3	4	4
THSD1	55901	broad.mit.edu	37	13	52971719	52971719	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52971719C>A	uc001vgo.2	-	c.669G>T	c.(667-669)GGG>GGT	p.G223G	THSD1_uc001vgp.2_Silent_p.G223G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	223	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.133333	4.579143	8.496655	4	26	KEEP	---	---	---	---	capture		Silent	SNP	52971719	52971719	16405	13	C	A	A	A	327	26	THSD1	2	2
PCDH17	27253	broad.mit.edu	37	13	58207420	58207420	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207420C>T	uc001vhq.1	+	c.740C>T	c.(739-741)TCC>TTC	p.S247F	PCDH17_uc010aec.1_Missense_Mutation_p.S247F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	247	Extracellular (Potential).|Cadherin 3.				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)								0.333333	34.254797	35.217838	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207420	58207420	11932	13	C	T	T	T	390	30	PCDH17	2	2
RTL1	388015	broad.mit.edu	37	14	101349397	101349397	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101349397C>T	uc010txj.1	-	c.1729G>A	c.(1729-1731)GAC>AAC	p.D577N	MIR127_hsa-mir-127|MI0000472_miRNA|MIR432_hsa-mir-432|MI0003133_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	577										pancreas(1)	1														0.380952	22.590022	22.852494	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101349397	101349397	14204	14	C	T	T	T	403	31	RTL1	1	1
OR4K13	390433	broad.mit.edu	37	14	20502530	20502530	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20502530G>A	uc010tkz.1	-	c.388C>T	c.(388-390)CTC>TTC	p.L130F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.214286	60.648762	69.083869	24	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20502530	20502530	11478	14	G	A	A	A	455	35	OR4K13	2	2
MYH6	4624	broad.mit.edu	37	14	23853924	23853924	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23853924G>T	uc001wjv.2	-	c.5292C>A	c.(5290-5292)GCC>GCA	p.A1764A		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1764	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.265306	34.191402	36.606152	13	36	KEEP	---	---	---	---	capture		Silent	SNP	23853924	23853924	10433	14	G	T	T	T	496	39	MYH6	1	1
RALGAPA1	253959	broad.mit.edu	37	14	36207850	36207850	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36207850C>A	uc001wtj.2	-	c.1456G>T	c.(1456-1458)GGG>TGG	p.G486W	RALGAPA1_uc001wti.2_Missense_Mutation_p.G486W|RALGAPA1_uc010tpv.1_Missense_Mutation_p.G486W|RALGAPA1_uc010tpw.1_Missense_Mutation_p.G486W|RALGAPA1_uc001wtk.1_Missense_Mutation_p.G337W	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	486					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.045455	-16.763318	12.37029	6	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36207850	36207850	13473	14	C	A	A	A	273	21	RALGAPA1	2	2
RALGAPA1	253959	broad.mit.edu	37	14	36219737	36219737	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36219737C>A	uc001wtj.2	-	c.962G>T	c.(961-963)GGA>GTA	p.G321V	RALGAPA1_uc001wti.2_Missense_Mutation_p.G321V|RALGAPA1_uc010tpv.1_Missense_Mutation_p.G321V|RALGAPA1_uc010tpw.1_Missense_Mutation_p.G321V|RALGAPA1_uc001wtk.1_Missense_Mutation_p.G172V	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	321					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.15	4.310499	6.661945	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36219737	36219737	13473	14	C	A	A	A	390	30	RALGAPA1	2	2
NIN	51199	broad.mit.edu	37	14	51243814	51243814	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51243814C>A	uc001wyi.2	-	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	NIN_uc001wyj.2_Non-coding_Transcript|NIN_uc001wyk.2_Missense_Mutation_p.Q173H|NIN_uc010tqp.1_Missense_Mutation_p.Q179H|NIN_uc001wym.2_Missense_Mutation_p.Q173H|NIN_uc001wyo.2_Missense_Mutation_p.Q173H|NIN_uc001wyp.1_Missense_Mutation_p.Q135H	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	ninein isoform 2	173					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	all_epithelial(31;0.00244)|Breast(41;0.127)									745				0.206897	27.165676	31.785085	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51243814	51243814	10818	14	C	A	A	A	415	32	NIN	2	2
C14orf145	145508	broad.mit.edu	37	14	81259422	81259422	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81259422T>A	uc001xux.2	-	c.1242A>T	c.(1240-1242)AAA>AAT	p.K414N	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	414	Potential.									central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.109091	4.9125	13.236795	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81259422	81259422	1797	14	T	A	A	A	777	60	C14orf145	3	3
GPR65	8477	broad.mit.edu	37	14	88477589	88477589	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88477589T>A	uc001xvv.2	+	c.398T>A	c.(397-399)ATG>AAG	p.M133K		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	133	Helical; Name=4; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0														0.215278	79.152861	89.92155	31	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88477589	88477589	6981	14	T	A	A	A	663	51	GPR65	3	3
MAGEL2	54551	broad.mit.edu	37	15	23890168	23890168	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23890168A>T	uc001ywj.3	-	c.913T>A	c.(913-915)TGG>AGG	p.W305R		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)										0.333333	10.494744	10.790581	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23890168	23890168	9572	15	A	T	T	T	91	7	MAGEL2	3	3
FBN1	2200	broad.mit.edu	37	15	48726890	48726890	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48726890C>A	uc001zwx.1	-	c.6517G>T	c.(6517-6519)GGC>TGC	p.G2173C	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2173	EGF-like 37; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.181818	17.682551	21.860047	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48726890	48726890	5938	15	C	A	A	A	273	21	FBN1	2	2
TNFAIP8L3	388121	broad.mit.edu	37	15	51397204	51397204	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51397204A>T	uc001zyy.2	-	c.170T>A	c.(169-171)CTT>CAT	p.L57H		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	57											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)										0.091603	5.598892	27.612342	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51397204	51397204	16820	15	A	T	T	T	39	3	TNFAIP8L3	3	3
AKAP13	11214	broad.mit.edu	37	15	86129055	86129055	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86129055G>C	uc002blu.1	+	c.4161_splice	c.e8+1	p.A1387_splice	AKAP13_uc002blt.1_Splice_Site_SNP_p.A1387_splice|AKAP13_uc002blv.1_Splice_Site_SNP_p.A1387_splice|AKAP13_uc010bne.1_Splice_Site_SNP_p.A40_splice	NM_006738	NP_006729			A-kinase anchor protein 13 isoform 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.142857	24.810201	36.000892	13	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	86129055	86129055	452	15	G	C	C	C	572	44	AKAP13	5	3
ARRDC4	91947	broad.mit.edu	37	15	98509183	98509183	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:98509183G>C	uc010bom.2	+	c.433G>C	c.(433-435)GTG>CTG	p.V145L	ARRDC4_uc002bui.3_Missense_Mutation_p.V58L	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	145					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)											0.27027	28.234781	29.995481	10	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98509183	98509183	1003	15	G	C	C	C	468	36	ARRDC4	3	3
SMG1	23049	broad.mit.edu	37	16	18887484	18887484	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18887484G>A	uc002dfm.2	-	c.1852C>T	c.(1852-1854)CTG>TTG	p.L618L	SMG1_uc010bwb.2_Silent_p.L478L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	618					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.263158	70.139468	74.953979	25	70	KEEP	---	---	---	---	capture		Silent	SNP	18887484	18887484	15293	16	G	A	A	A	451	35	SMG1	2	2
PLK1	5347	broad.mit.edu	37	16	23700048	23700048	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23700048T>G	uc002dlz.1	+	c.1252T>G	c.(1252-1254)TCG>GCG	p.S418A		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	418	POLO box 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)	1				GBM - Glioblastoma multiforme(48;0.0156)		Colon(12;240 564 27038 33155)				206				0.071429	-0.541507	10.052477	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23700048	23700048	12520	16	T	G	G	G	806	62	PLK1	4	4
ARHGAP17	55114	broad.mit.edu	37	16	24953364	24953364	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24953364C>A	uc002dnb.2	-	c.1434G>T	c.(1432-1434)GAG>GAT	p.E478D	ARHGAP17_uc002dmz.2_5'Flank|ARHGAP17_uc002dna.2_Missense_Mutation_p.E205D|ARHGAP17_uc002dnc.2_Missense_Mutation_p.E478D|ARHGAP17_uc010vcf.1_Missense_Mutation_p.E299D	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	478					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)										0.27	64.773659	69.551501	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24953364	24953364	878	16	C	A	A	A	415	32	ARHGAP17	2	2
STX1B	112755	broad.mit.edu	37	16	31008351	31008351	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31008351C>A	uc010cad.2	-	c.384G>T	c.(382-384)GAG>GAT	p.E128D	STX1B_uc010vfd.1_Missense_Mutation_p.E128D	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	128	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0														0.269231	19.313522	20.562902	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31008351	31008351	15864	16	C	A	A	A	311	24	STX1B	2	2
NOD2	64127	broad.mit.edu	37	16	50744599	50744599	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50744599C>A	uc002egm.1	+	c.777C>A	c.(775-777)GTC>GTA	p.V259V	NOD2_uc010cbk.1_Silent_p.V232V|NOD2_uc002egl.1_Silent_p.V37V|NOD2_uc010cbl.1_Silent_p.V37V|NOD2_uc010cbm.1_Silent_p.V37V|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	259					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)	3		all_cancers(37;0.0156)												0.2	11.364208	13.454196	5	20	KEEP	---	---	---	---	capture		Silent	SNP	50744599	50744599	10920	16	C	A	A	A	405	32	NOD2	2	2
CETP	1071	broad.mit.edu	37	16	57012021	57012021	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57012021A>C	uc002eki.2	+	c.1000A>C	c.(1000-1002)AGC>CGC	p.S334R	CETP_uc002ekj.2_Missense_Mutation_p.S274R	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	334					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|reverse cholesterol transport|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)	1														0.230769	4.797894	6.801513	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57012021	57012021	3410	16	A	C	C	C	91	7	CETP	4	4
CDH5	1003	broad.mit.edu	37	16	66420949	66420949	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66420949G>A	uc002eom.3	+	c.448G>A	c.(448-450)GTG>ATG	p.V150M	CDH5_uc002eon.1_Missense_Mutation_p.V150M	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	150	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|central_nervous_system(1)	3		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)										0.2	5.61525	6.872228	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66420949	66420949	3242	16	G	A	A	A	624	48	CDH5	2	2
MYH4	4622	broad.mit.edu	37	17	10350502	10350502	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10350502C>A	uc002gmn.2	-	c.4997G>T	c.(4996-4998)AGA>ATA	p.R1666I		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1666	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.214286	20.250845	23.417913	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10350502	10350502	10432	17	C	A	A	A	416	32	MYH4	2	2
MYH3	4621	broad.mit.edu	37	17	10538233	10538233	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10538233T>C	uc002gmq.1	-	c.4280A>G	c.(4279-4281)GAG>GGG	p.E1427G		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1427	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.192308	23.924099	28.519978	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10538233	10538233	10431	17	T	C	C	C	702	54	MYH3	4	4
ULK2	9706	broad.mit.edu	37	17	19705198	19705198	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19705198C>A	uc002gwm.3	-	c.1333G>T	c.(1333-1335)GGC>TGC	p.G445C	ULK2_uc002gwn.2_Missense_Mutation_p.G445C	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	445					protein phosphorylation|signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)									475				0.480874	261.089718	261.147645	88	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19705198	19705198	17534	17	C	A	A	A	286	22	ULK2	2	2
OR1A2	26189	broad.mit.edu	37	17	3101421	3101421	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3101421C>T	uc002fvd.1	+	c.609C>T	c.(607-609)GTC>GTT	p.V203V		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.201183	76.678738	90.687667	34	135	KEEP	---	---	---	---	capture		Silent	SNP	3101421	3101421	11356	17	C	T	T	T	392	31	OR1A2	1	1
ITGAE	3682	broad.mit.edu	37	17	3649219	3649219	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3649219G>T	uc002fwo.3	-	c.2158C>A	c.(2158-2160)CTC>ATC	p.L720I		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	720	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		NSCLC(182;635 2928 8995 38788)				37				0.172414	20.011121	25.894748	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3649219	3649219	8189	17	G	T	T	T	455	35	ITGAE	2	2
NEUROD2	4761	broad.mit.edu	37	17	37762594	37762594	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37762594C>G	uc002hry.2	-	c.259G>C	c.(259-261)GAG>CAG	p.E87Q		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	87	Poly-Glu.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)											0.096774	2.601501	7.652448	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37762594	37762594	10749	17	C	G	G	G	416	32	NEUROD2	3	3
MED24	9862	broad.mit.edu	37	17	38188962	38188962	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38188962C>A	uc002hts.2	-	c.951G>T	c.(949-951)GGG>GGT	p.G317G	MED24_uc010wes.1_Silent_p.G152G|MED24_uc010wet.1_Intron|MED24_uc002htt.2_Silent_p.G292G|MED24_uc002htu.2_Silent_p.G279G|MED24_uc010cwn.2_Silent_p.G279G|MED24_uc010weu.1_Silent_p.G202G|MED24_uc010wev.1_Silent_p.G242G|MED24_uc010wew.1_Silent_p.G221G|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Silent_p.G133G|MED24_uc010wfa.1_Silent_p.G261G|MED24_uc010wfb.1_Silent_p.G304G	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	292					androgen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)													0.306452	51.916791	53.979542	19	43	KEEP	---	---	---	---	capture		Silent	SNP	38188962	38188962	9831	17	C	A	A	A	327	26	MED24	2	2
KCNH4	23415	broad.mit.edu	37	17	40321504	40321504	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40321504G>A	uc002hzb.2	-	c.1581C>T	c.(1579-1581)GAC>GAT	p.D527D		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	527	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		NSCLC(117;707 1703 2300 21308 31858)								0.148148	4.081276	7.295561	4	23	KEEP	---	---	---	---	capture		Silent	SNP	40321504	40321504	8339	17	G	A	A	A	516	40	KCNH4	1	1
KIF2B	84643	broad.mit.edu	37	17	51902048	51902048	+	Missense_Mutation	SNP	C	A	A	rs114241810	by1000genomes	TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51902048C>A	uc002iua.2	+	c.1654C>A	c.(1654-1656)CGT>AGT	p.R552S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	552					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.421053	111.763636	112.283643	40	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51902048	51902048	8609	17	C	A	A	A	403	31	KIF2B	1	1
TEX14	56155	broad.mit.edu	37	17	56638913	56638913	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56638913C>A	uc010dcz.1	-	c.4263G>T	c.(4261-4263)GTG>GTT	p.V1421V	TEX14_uc002iwr.1_Silent_p.V1415V|TEX14_uc002iws.1_Silent_p.V1375V|TEX14_uc010dda.1_Silent_p.V1155V	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1421					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				0.105769	10.682702	26.710463	11	93	KEEP	---	---	---	---	capture		Silent	SNP	56638913	56638913	16305	17	C	A	A	A	262	21	TEX14	2	2
DHX40	79665	broad.mit.edu	37	17	57647932	57647932	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57647932A>G	uc002ixn.1	+	c.334A>G	c.(334-336)ATA>GTA	p.I112V	DHX40_uc010woe.1_Intron|DHX40_uc002ixo.1_Missense_Mutation_p.I13V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	112	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.118421	14.024531	24.890205	9	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57647932	57647932	4691	17	A	G	G	G	208	16	DHX40	4	4
PITPNM3	83394	broad.mit.edu	37	17	6367062	6367063	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6367062_6367063CC>AA	uc002gdd.3	-	c.2295_2296GG>TT	c.(2293-2298)GTGGAT>GTTTAT	p.D766Y	PITPNM3_uc010cln.2_Missense_Mutation_p.D730Y|PITPNM3_uc010clm.2_Missense_Mutation_p.D249Y|PITPNM3_uc002gdc.3_Missense_Mutation_p.D357Y	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	766					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)										0.157895	5.612174	7.733	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	6367062	6367063	12376	17	CC	AA	AA	AA	390	30	PITPNM3	2	2
CCDC46	201134	broad.mit.edu	37	17	64171266	64171266	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64171266C>A	uc002jfl.2	-	c.366G>T	c.(364-366)TGG>TGT	p.W122C	CCDC46_uc002jfm.2_Missense_Mutation_p.W122C|CCDC46_uc010dep.2_Missense_Mutation_p.W122C	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	122											0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)											0.135593	10.556941	18.152201	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64171266	64171266	2940	17	C	A	A	A	286	22	CCDC46	2	2
DNAH2	146754	broad.mit.edu	37	17	7667525	7667525	+	Silent	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7667525T>C	uc002giu.1	+	c.3270T>C	c.(3268-3270)ACT>ACC	p.T1090T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1090	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.217742	69.66723	78.770042	27	97	KEEP	---	---	---	---	capture		Silent	SNP	7667525	7667525	4785	17	T	C	C	C	691	54	DNAH2	4	4
EMILIN2	84034	broad.mit.edu	37	18	2891408	2891408	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2891408G>C	uc002kln.2	+	c.1283G>C	c.(1282-1284)GGA>GCA	p.G428A		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	428					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.1)										0.235294	30.47518	33.742863	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2891408	2891408	5286	18	G	C	C	C	533	41	EMILIN2	3	3
DTNA	1837	broad.mit.edu	37	18	32391955	32391955	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32391955G>T	uc010dmn.1	+	c.481G>T	c.(481-483)GTG>TTG	p.V161L	DTNA_uc002kxu.2_Missense_Mutation_p.V161L|DTNA_uc010xbx.1_Missense_Mutation_p.V161L|DTNA_uc002kxv.3_Missense_Mutation_p.V161L|DTNA_uc002kxw.2_Missense_Mutation_p.V161L|DTNA_uc002kxx.2_Missense_Mutation_p.V161L|DTNA_uc010dmj.2_Missense_Mutation_p.V161L|DTNA_uc002kxz.2_Missense_Mutation_p.V161L|DTNA_uc002kxy.2_Missense_Mutation_p.V161L|DTNA_uc010dmk.1_Non-coding_Transcript|DTNA_uc010dml.2_Missense_Mutation_p.V161L|DTNA_uc002kyb.3_Missense_Mutation_p.V161L|DTNA_uc010dmm.2_Missense_Mutation_p.V161L	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	161	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.255319	27.776451	30.330578	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32391955	32391955	4973	18	G	T	T	T	572	44	DTNA	2	2
PIK3C3	5289	broad.mit.edu	37	18	39623730	39623730	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:39623730G>T	uc002lap.2	+	c.2137G>T	c.(2137-2139)GGG>TGG	p.G713W	PIK3C3_uc010xcl.1_Missense_Mutation_p.G650W|PIK3C3_uc002laq.2_Missense_Mutation_p.G198W|PIK3C3_uc002lar.1_Missense_Mutation_p.G97W	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	713	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(7)|ovary(1)	8						NSCLC(37;552 1060 2683 16430 37914)				441	TSP Lung(28;0.18)			0.238095	39.29263	43.240248	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39623730	39623730	12336	18	G	T	T	T	611	47	PIK3C3	2	2
SLC14A2	8170	broad.mit.edu	37	18	43204647	43204647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43204647C>A	uc010dnj.2	+	c.18C>A	c.(16-18)AGC>AGA	p.S6R	SLC14A2_uc002lbb.2_Missense_Mutation_p.S6R|SLC14A2_uc002lbe.2_Missense_Mutation_p.S6R	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	6						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.266304	122.393208	131.409256	49	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43204647	43204647	14892	18	C	A	A	A	324	25	SLC14A2	2	2
COL5A3	50509	broad.mit.edu	37	19	10106290	10106290	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10106290G>A	uc002mmq.1	-	c.1537C>T	c.(1537-1539)CCC>TCC	p.P513S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	513	Triple-helical region.				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)											0.163265	15.070815	20.348939	8	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10106290	10106290	3836	19	G	A	A	A	533	41	COL5A3	2	2
CACNA1A	773	broad.mit.edu	37	19	13395964	13395964	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13395964C>A	uc002mwy.3	-	c.3610G>T	c.(3610-3612)GAG>TAG	p.E1204*	CACNA1A_uc010dzc.2_Nonsense_Mutation_p.E730*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.E1205*|CACNA1A_uc010xne.1_Nonsense_Mutation_p.E733*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 4	1205	Cytoplasmic (Potential).|Poly-Glu.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.2	10.036837	12.549989	6	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13395964	13395964	2654	19	C	A	A	A	390	30	CACNA1A	5	2
IL12RB1	3594	broad.mit.edu	37	19	18179326	18179326	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18179326G>T	uc002nhx.1	-	c.1320C>A	c.(1318-1320)AGC>AGA	p.S440R	IL12RB1_uc002nhw.1_Missense_Mutation_p.S400R|IL12RB1_uc010xqb.1_Missense_Mutation_p.S400R	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	400	Extracellular (Potential).|Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1														0.277778	66.236233	70.235239	25	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18179326	18179326	7927	19	G	T	T	T	438	34	IL12RB1	2	2
ZNF676	163223	broad.mit.edu	37	19	22363036	22363036	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363036G>T	uc002nqs.1	-	c.1483C>A	c.(1483-1485)CAT>AAT	p.H495N		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	495	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.26087	32.177812	34.559436	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363036	22363036	18678	19	G	T	T	T	624	48	ZNF676	2	2
ZNF98	148198	broad.mit.edu	37	19	22574939	22574940	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22574939_22574940AG>TT	uc002nqt.2	-	c.1097_1098CT>AA	c.(1096-1098)ACT>AAA	p.T366K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	366	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.2	6.515426	7.772598	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	22574939	22574940	18807	19	AG	TT	TT	TT	184	15	ZNF98	3	3
ZNF99	7652	broad.mit.edu	37	19	22939802	22939802	+	Silent	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22939802T>A	uc010xrh.1	-	c.2529A>T	c.(2527-2529)TCA>TCT	p.S843S		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	843	C2H2-type 24.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.295455	35.756106	37.403997	13	31	KEEP	---	---	---	---	capture		Silent	SNP	22939802	22939802	18808	19	T	A	A	A	704	55	ZNF99	3	3
ZNF91	7644	broad.mit.edu	37	19	23542621	23542621	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23542621C>A	uc002nre.2	-	c.3160G>T	c.(3160-3162)GAA>TAA	p.E1054*	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Nonsense_Mutation_p.E1022*	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	1054	C2H2-type 33.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)												0.2	26.163285	31.187784	12	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23542621	23542621	18804	19	C	A	A	A	416	32	ZNF91	5	2
ZNF536	9745	broad.mit.edu	37	19	31025865	31025865	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31025865G>A	uc002nsu.1	+	c.2282G>A	c.(2281-2283)CGG>CAG	p.R761Q	ZNF536_uc010edd.1_Missense_Mutation_p.R761Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	761	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.107843	12.381175	27.907519	11	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31025865	31025865	18568	19	G	A	A	A	507	39	ZNF536	1	1
ZNF260	339324	broad.mit.edu	37	19	37005994	37005994	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37005994A>T	uc002oee.1	-	c.147T>A	c.(145-147)CAT>CAA	p.H49Q	ZNF260_uc002oed.1_Missense_Mutation_p.H46Q|ZNF260_uc010eey.1_Missense_Mutation_p.H46Q|ZNF260_uc002oef.1_Missense_Mutation_p.H46Q	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	49	C2H2-type 1.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.146341	22.75108	32.603495	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37005994	37005994	18394	19	A	T	T	T	206	16	ZNF260	3	3
ZNF568	374900	broad.mit.edu	37	19	37441034	37441034	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37441034A>T	uc002ofc.2	+	c.979A>T	c.(979-981)ATT>TTT	p.I327F	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.I251F|ZNF568_uc010efe.2_Missense_Mutation_p.I251F|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	327	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.181818	12.328949	15.469042	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37441034	37441034	18594	19	A	T	T	T	52	4	ZNF568	3	3
TMEM145	284339	broad.mit.edu	37	19	42827826	42827827	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42827826_42827827GG>TT	uc002otk.1	+	c.1286_1287GG>TT	c.(1285-1287)GGG>GTT	p.G429V	MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	429						integral to membrane					0		Prostate(69;0.00682)												0.219512	18.961774	21.927423	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	42827826	42827827	16591	19	GG	TT	TT	TT	559	43	TMEM145	2	2
IRGQ	126298	broad.mit.edu	37	19	44096260	44096260	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44096260G>A	uc002oww.2	-	c.1790C>T	c.(1789-1791)GCT>GTT	p.A597V	IRGQ_uc010eiv.2_Missense_Mutation_p.A597V	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	597	Ala-rich.						protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)												0.666667	15.241163	15.459644	6	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44096260	44096260	8143	19	G	A	A	A	442	34	IRGQ	2	2
EMP3	2014	broad.mit.edu	37	19	48830831	48830831	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48830831G>T	uc002piv.2	+	c.132G>T	c.(130-132)ACG>ACT	p.T44T		NM_001425	NP_001416	P54852	EMP3_HUMAN	epithelial membrane protein 3	44					cell growth|negative regulation of cell proliferation	integral to membrane					0		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)										0.205128	19.780478	22.923989	8	31	KEEP	---	---	---	---	capture		Silent	SNP	48830831	48830831	5296	19	G	T	T	T	509	40	EMP3	1	1
SIGLEC6	946	broad.mit.edu	37	19	52033197	52033197	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52033197G>C	uc002pwy.2	-	c.793C>G	c.(793-795)CTG>GTG	p.L265V	SIGLEC6_uc002pwz.2_Missense_Mutation_p.L249V|SIGLEC6_uc002pxa.2_Missense_Mutation_p.L265V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.L202V|SIGLEC6_uc010ydc.1_Missense_Mutation_p.L265V|SIGLEC6_uc010eoz.1_Missense_Mutation_p.L243V|SIGLEC6_uc010epb.1_Missense_Mutation_p.L218V|SIGLEC6_uc010epa.1_Missense_Mutation_p.L254V	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	265	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)										0.205882	13.402826	16.134456	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52033197	52033197	14807	19	G	C	C	C	451	35	SIGLEC6	3	3
ZNRF4	148066	broad.mit.edu	37	19	5456479	5456479	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5456479C>A	uc002mca.3	+	c.977C>A	c.(976-978)CCC>CAC	p.P326H		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	326	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)										0.12963	9.200844	16.406134	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5456479	5456479	18818	19	C	A	A	A	286	22	ZNRF4	2	2
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54778643T>A	uc002qfb.2	-	c.1691A>T	c.(1690-1692)CAG>CTG	p.Q564L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Missense_Mutation_p.Q563L|LILRB2_uc010yet.1_Missense_Mutation_p.Q448L	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	564	ITIM motif 2.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.173077	18.365134	23.596802	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54778643	54778643	9117	19	T	A	A	A	715	55	LILRB2	3	3
TNNI3	7137	broad.mit.edu	37	19	55665443	55665443	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55665443G>T	uc002qjg.3	-	c.504C>A	c.(502-504)GAC>GAA	p.D168E	TNNI3_uc010yft.1_Missense_Mutation_p.D160E	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	168					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)										0.159091	12.603411	17.471577	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55665443	55665443	16869	19	G	T	T	T	568	44	TNNI3	2	2
C19orf18	147685	broad.mit.edu	37	19	58472920	58472920	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58472920C>A	uc002qqv.2	-	c.372_splice	c.e5-1	p.Y124_splice		NM_152474	NP_689687			hypothetical protein LOC147685 precursor							integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)										0.135135	8.44857	13.222982	5	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58472920	58472920	1972	19	C	A	A	A	260	20	C19orf18	5	2
RANBP3	8498	broad.mit.edu	37	19	5928017	5928017	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5928017C>A	uc002mdw.2	-	c.775G>T	c.(775-777)GCC>TCC	p.A259S	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.A254S|RANBP3_uc002mdy.2_Missense_Mutation_p.A191S|RANBP3_uc002mdz.2_Missense_Mutation_p.A186S|RANBP3_uc010duq.2_Missense_Mutation_p.A164S|RANBP3_uc002mea.2_Missense_Mutation_p.A126S|RANBP3_uc010xix.1_Missense_Mutation_p.A131S	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	259					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1														0.16	6.381704	9.138225	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5928017	5928017	13489	19	C	A	A	A	364	28	RANBP3	2	2
C19orf45	374877	broad.mit.edu	37	19	7570505	7570505	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7570505A>G	uc002mgm.2	+	c.998A>G	c.(997-999)TAC>TGC	p.Y333C	C19orf45_uc010xjo.1_Missense_Mutation_p.Y5C	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	333											0														0.185185	22.724525	27.737387	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7570505	7570505	1992	19	A	G	G	G	182	14	C19orf45	4	4
MUC16	94025	broad.mit.edu	37	19	9058462	9058462	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9058462T>A	uc002mkp.2	-	c.28984A>T	c.(28984-28986)ATC>TTC	p.I9662F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9664	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														0.2375	46.878053	51.922381	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9058462	9058462	10367	19	T	A	A	A	663	51	MUC16	3	3
SYPL2	284612	broad.mit.edu	37	1	110022016	110022016	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110022016A>G	uc001dxp.2	+	c.665A>G	c.(664-666)AAC>AGC	p.N222S	SYPL2_uc010ovk.1_Missense_Mutation_p.N158S	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	222	Helical; (Potential).|MARVEL.					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)										0.04	-17.531211	10.973468	5	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110022016	110022016	15984	1	A	G	G	G	26	2	SYPL2	4	4
C1orf162	128346	broad.mit.edu	37	1	112020713	112020713	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112020713A>T	uc001ebe.2	+	c.436A>T	c.(436-438)ATT>TTT	p.I146F		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	hypothetical protein LOC128346	146						integral to membrane				ovary(1)	1		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)										0.202532	38.349732	44.859204	16	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112020713	112020713	2077	1	A	T	T	T	104	8	C1orf162	3	3
CASQ2	845	broad.mit.edu	37	1	116260499	116260500	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:116260499_116260500CC>AT	uc001efx.3	-	c.799_800GG>AT	c.(799-801)GGG>ATG	p.G267M	CASQ2_uc010owu.1_Missense_Mutation_p.G196M	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	267					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding				0	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)										0.153846	30.036118	41.866789	16	88	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	116260499	116260500	2800	1	CC	AT	AT	AT	286	22	CASQ2	2	2
TCHH	7062	broad.mit.edu	37	1	152083862	152083862	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152083862C>A	uc001ezp.2	-	c.1831G>T	c.(1831-1833)GAG>TAG	p.E611*	TCHH_uc009wne.1_Nonsense_Mutation_p.E611*	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	611	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.416667	59.790965	60.082018	20	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152083862	152083862	16226	1	C	A	A	A	403	31	TCHH	5	1
FLG	2312	broad.mit.edu	37	1	152282882	152282882	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152282882C>T	uc001ezu.1	-	c.4480G>A	c.(4480-4482)GGG>AGG	p.G1494R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1494	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.122066	32.53649	62.307294	26	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152282882	152282882	6160	1	C	T	T	T	286	22	FLG	2	2
SEMA4A	64218	broad.mit.edu	37	1	156144918	156144918	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156144918G>T	uc001fnl.2	+	c.1476G>T	c.(1474-1476)GTG>GTT	p.V492V	SEMA4A_uc009wrq.2_Silent_p.V492V|SEMA4A_uc001fnm.2_Silent_p.V492V|SEMA4A_uc001fnn.2_Silent_p.V360V|SEMA4A_uc001fno.2_Silent_p.V492V	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	492	Sema.|Extracellular (Potential).				axon guidance|visual perception	integral to membrane|plasma membrane	receptor activity			ovary(1)	1	Hepatocellular(266;0.158)													0.170642	171.547761	227.291902	93	452	KEEP	---	---	---	---	capture		Silent	SNP	156144918	156144918	14517	1	G	T	T	T	587	46	SEMA4A	2	2
OR10K2	391107	broad.mit.edu	37	1	158390436	158390436	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390436G>C	uc010pii.1	-	c.221C>G	c.(220-222)ACC>AGC	p.T74S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.172285	105.762575	132.79141	46	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158390436	158390436	11320	1	G	C	C	C	572	44	OR10K2	3	3
SPTA1	6708	broad.mit.edu	37	1	158641242	158641242	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158641242G>T	uc001fst.1	-	c.1490C>A	c.(1489-1491)GCC>GAC	p.A497D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	497	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.511628	66.447138	66.452101	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158641242	158641242	15630	1	G	T	T	T	546	42	SPTA1	2	2
AIM2	9447	broad.mit.edu	37	1	159035705	159035705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159035705G>A	uc001ftj.1	-	c.811C>T	c.(811-813)CAG>TAG	p.Q271*		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	271	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.414286	86.260805	86.710304	29	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	159035705	159035705	435	1	G	A	A	A	611	47	AIM2	5	2
ARHGAP30	257106	broad.mit.edu	37	1	161018084	161018085	+	Missense_Mutation	DNP	AC	GA	GA			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161018084_161018085AC>GA	uc001fxl.2	-	c.2726_2727GT>TC	c.(2725-2727)TGT>TTC	p.C909F	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.C698F|ARHGAP30_uc001fxm.2_Missense_Mutation_p.C755F|ARHGAP30_uc009wtx.2_Missense_Mutation_p.C582F	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	909					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)	2	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)											0.454545	62.573377	62.654716	20	24	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	161018084	161018085	891	1	AC	GA	GA	GA	128	10	ARHGAP30	4	4
NDUFS2	4720	broad.mit.edu	37	1	161172232	161172232	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161172232G>T	uc001fyv.2	+	c.57G>T	c.(55-57)CGG>CGT	p.R19R	NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Silent_p.R19R|NDUFS2_uc010pkj.1_5'UTR|NDUFS2_uc001fyx.2_Silent_p.R19R|NDUFS2_uc001fyy.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	19					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)									0.333333	9.792497	10.08946	4	8	KEEP	---	---	---	---	capture		Silent	SNP	161172232	161172232	10691	1	G	T	T	T	535	42	NDUFS2	2	2
DUSP27	92235	broad.mit.edu	37	1	167097620	167097620	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167097620C>T	uc001geb.1	+	c.3252C>T	c.(3250-3252)GCC>GCT	p.A1084A		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1084					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.088235	2.499871	14.154103	6	62	KEEP	---	---	---	---	capture		Silent	SNP	167097620	167097620	5009	1	C	T	T	T	262	21	DUSP27	2	2
KIFAP3	22920	broad.mit.edu	37	1	170003569	170003569	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170003569T>C	uc001ggv.2	-	c.686A>G	c.(685-687)CAT>CGT	p.H229R	KIFAP3_uc010ply.1_Missense_Mutation_p.H151R|KIFAP3_uc001ggw.1_Missense_Mutation_p.H185R	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	229					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.193548	13.233566	15.949609	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170003569	170003569	8622	1	T	C	C	C	663	51	KIFAP3	4	4
CEP350	9857	broad.mit.edu	37	1	180013210	180013210	+	Silent	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180013210T>G	uc001gnt.2	+	c.4524T>G	c.(4522-4524)TCT>TCG	p.S1508S	CEP350_uc009wxl.2_Silent_p.S1507S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1508	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4														0.333333	15.742469	16.186046	6	12	KEEP	---	---	---	---	capture		Silent	SNP	180013210	180013210	3387	1	T	G	G	G	691	54	CEP350	4	4
CACNA1E	777	broad.mit.edu	37	1	181702596	181702596	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181702596G>T	uc001gow.2	+	c.2972G>T	c.(2971-2973)AGA>ATA	p.R991I	CACNA1E_uc009wxs.2_Missense_Mutation_p.R879I|CACNA1E_uc001gox.1_Missense_Mutation_p.R217I|CACNA1E_uc009wxt.2_Missense_Mutation_p.R217I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	991	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														0.056338	-6.360664	8.328966	4	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181702596	181702596	2658	1	G	T	T	T	429	33	CACNA1E	2	2
LAMC1	3915	broad.mit.edu	37	1	183106849	183106849	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183106849G>T	uc001gpy.3	+	c.4360G>T	c.(4360-4362)GTT>TTT	p.V1454F		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1454	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.402778	83.657817	84.253533	29	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183106849	183106849	8937	1	G	T	T	T	468	36	LAMC1	2	2
TPR	7175	broad.mit.edu	37	1	186326650	186326650	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186326650G>A	uc001grv.2	-	c.1603C>T	c.(1603-1605)CAG>TAG	p.Q535*	TPR_uc010pop.1_Nonsense_Mutation_p.Q611*	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	535	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)						1949				0.405797	80.884572	81.420265	28	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186326650	186326650	16960	1	G	A	A	A	624	48	TPR	5	2
CRB1	23418	broad.mit.edu	37	1	197411417	197411417	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197411417G>C	uc001gtz.2	+	c.4000G>C	c.(4000-4002)GTG>CTG	p.V1334L	CRB1_uc010poz.1_Missense_Mutation_p.V1310L|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.V1222L|CRB1_uc010ppb.1_Missense_Mutation_p.V798L|CRB1_uc010ppd.1_Missense_Mutation_p.V815L|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1334	Extracellular (Potential).				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														0.460674	124.081051	124.196973	41	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197411417	197411417	3987	1	G	C	C	C	572	44	CRB1	3	3
LAX1	54900	broad.mit.edu	37	1	203740567	203740567	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203740567A>T	uc001haa.2	+	c.272A>T	c.(271-273)AAT>ATT	p.N91I	LAX1_uc010pql.1_Missense_Mutation_p.N75I|LAX1_uc001hab.2_Missense_Mutation_p.N15I	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	91	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.160563	108.751357	147.687357	57	298	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203740567	203740567	8971	1	A	T	T	T	52	4	LAX1	3	3
NFASC	23114	broad.mit.edu	37	1	204923422	204923422	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204923422C>T	uc001hbj.2	+	c.322C>T	c.(322-324)CGG>TGG	p.R108W	NFASC_uc001hbh.2_Missense_Mutation_p.R108W|NFASC_uc010pqz.1_Missense_Mutation_p.R102W|NFASC_uc010pra.1_Missense_Mutation_p.R102W|NFASC_uc001hbi.2_Missense_Mutation_p.R102W|NFASC_uc009xbg.1_Missense_Mutation_p.R175W|NFASC_uc010prb.1_Missense_Mutation_p.R102W|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	108	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.470588	50.27013	50.288046	16	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204923422	204923422	10759	1	C	T	T	T	347	27	NFASC	1	1
HSPG2	3339	broad.mit.edu	37	1	22157749	22157749	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22157749C>A	uc009vqd.2	-	c.11524G>T	c.(11524-11526)GGC>TGC	p.G3842C	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc001bfj.2_Missense_Mutation_p.G3841C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3841	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.244898	28.980699	31.88283	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22157749	22157749	7730	1	C	A	A	A	299	23	HSPG2	1	1
RYR2	6262	broad.mit.edu	37	1	237765336	237765336	+	Silent	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237765336T>C	uc001hyl.1	+	c.4608T>C	c.(4606-4608)AGT>AGC	p.S1536S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1536	Cytoplasmic (By similarity).|B30.2/SPRY 3.|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)											0.142857	12.294775	18.316301	7	42	KEEP	---	---	---	---	capture		Silent	SNP	237765336	237765336	14249	1	T	C	C	C	738	57	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237872294	237872294	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237872294G>T	uc001hyl.1	+	c.10038G>T	c.(10036-10038)GGG>GGT	p.G3346G	RYR2_uc010pxz.1_Silent_p.G301G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3346					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)											0.387755	45.694748	46.240353	19	30	KEEP	---	---	---	---	capture		Silent	SNP	237872294	237872294	14249	1	G	T	T	T	548	43	RYR2	2	2
FMN2	56776	broad.mit.edu	37	1	240341343	240341343	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240341343A>T	uc010pye.1	+	c.1905A>T	c.(1903-1905)GAA>GAT	p.E635D	FMN2_uc010pyd.1_Missense_Mutation_p.E635D	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	635					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)						p.E778E(OVKATE-Tumor)	1289				0.074074	-1.141237	8.919273	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240341343	240341343	6192	1	A	T	T	T	24	2	FMN2	3	3
ZNF695	57116	broad.mit.edu	37	1	247150661	247150661	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247150661C>A	uc009xgu.2	-	c.1156G>T	c.(1156-1158)GGC>TGC	p.G386C	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	386	C2H2-type 9.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)											0.207792	37.857002	43.947603	16	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247150661	247150661	18693	1	C	A	A	A	273	21	ZNF695	2	2
OR13G1	441933	broad.mit.edu	37	1	247836151	247836151	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247836151C>G	uc001idi.1	-	c.193G>C	c.(193-195)GTT>CTT	p.V65L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.4	54.79318	55.142741	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247836151	247836151	11348	1	C	G	G	G	221	17	OR13G1	3	3
OR2G6	391211	broad.mit.edu	37	1	248685578	248685578	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685578G>A	uc001ien.1	+	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.492537	98.163757	98.167118	33	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685578	248685578	11406	1	G	A	A	A	572	44	OR2G6	2	2
WDTC1	23038	broad.mit.edu	37	1	27624556	27624556	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27624556G>C	uc009vst.2	+	c.1186G>C	c.(1186-1188)GCC>CCC	p.A396P	WDTC1_uc001bno.2_Missense_Mutation_p.A395P|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.2_Missense_Mutation_p.A74P	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	396							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)										0.397436	98.122152	98.835517	31	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27624556	27624556	17916	1	G	C	C	C	598	46	WDTC1	3	3
CSMD2	114784	broad.mit.edu	37	1	34088983	34088983	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34088983C>T	uc001bxm.1	-	c.5709G>A	c.(5707-5709)CTG>CTA	p.L1903L	CSMD2_uc001bxn.1_Silent_p.L1863L|CSMD2_uc001bxo.1_Silent_p.L776L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1863	CUB 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.291667	39.630111	41.496427	14	34	KEEP	---	---	---	---	capture		Silent	SNP	34088983	34088983	4086	1	C	T	T	T	262	21	CSMD2	2	2
GJB4	127534	broad.mit.edu	37	1	35226896	35226896	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35226896A>G	uc001bxv.1	+	c.41A>G	c.(40-42)AAC>AGC	p.N14S	GJB4_uc001bxw.3_Missense_Mutation_p.N14S	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	14	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)												0.067568	-4.06783	10.250926	5	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35226896	35226896	6678	1	A	G	G	G	26	2	GJB4	4	4
BSND	7809	broad.mit.edu	37	1	55474144	55474144	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55474144G>T	uc001cye.2	+	c.806G>T	c.(805-807)CGG>CTG	p.R269L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	269	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)	1						Ovarian(191;1657 2078 22894 42033 48899)								0.384615	28.24189	28.545833	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55474144	55474144	1562	1	G	T	T	T	507	39	BSND	1	1
C1orf87	127795	broad.mit.edu	37	1	60520941	60520941	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:60520941G>T	uc001czs.1	-	c.277C>A	c.(277-279)CAG>AAG	p.Q93K		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	93							calcium ion binding			ovary(1)|breast(1)	2						NSCLC(75;811 1386 4923 13371 51772)								0.214765	78.328497	89.512177	32	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60520941	60520941	2140	1	G	T	T	T	611	47	C1orf87	2	2
C1orf173	127254	broad.mit.edu	37	1	75038498	75038498	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75038498T>A	uc001dgg.2	-	c.2896A>T	c.(2896-2898)AGA>TGA	p.R966*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	966	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.274074	92.709429	98.92249	37	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75038498	75038498	2081	1	T	A	A	A	700	54	C1orf173	5	3
TTLL7	79739	broad.mit.edu	37	1	84373139	84373139	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84373139C>A	uc001djc.2	-	c.1992G>T	c.(1990-1992)GTG>GTT	p.V664V	TTLL7_uc001djb.2_Non-coding_Transcript|TTLL7_uc001djd.2_Non-coding_Transcript|TTLL7_uc001dje.2_Non-coding_Transcript|TTLL7_uc001djf.2_Non-coding_Transcript|TTLL7_uc001djg.2_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	664					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)										0.104167	4.83875	12.322129	5	43	KEEP	---	---	---	---	capture		Silent	SNP	84373139	84373139	17287	1	C	A	A	A	262	21	TTLL7	2	2
DNASE2B	58511	broad.mit.edu	37	1	84864322	84864322	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84864322G>T	uc001djt.1	+	c.75G>T	c.(73-75)CTG>CTT	p.L25L	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	25					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		Pancreas(54;788 1175 11852 16034 30034)								0.098361	7.100164	26.809123	12	110	KEEP	---	---	---	---	capture		Silent	SNP	84864322	84864322	4848	1	G	T	T	T	600	47	DNASE2B	2	2
LPPR4	9890	broad.mit.edu	37	1	99771331	99771331	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771331G>T	uc001dse.2	+	c.1057G>T	c.(1057-1059)GAT>TAT	p.D353Y	LPPR4_uc010oue.1_Missense_Mutation_p.D295Y	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	353							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.046729	-13.219308	10.220015	5	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99771331	99771331	9300	1	G	T	T	T	429	33	LPPR4	2	2
SIRPB2	284759	broad.mit.edu	37	20	1471924	1471924	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1471924A>T	uc002wfg.2	-	c.82T>A	c.(82-84)TCA>ACA	p.S28T	SIRPB2_uc002wfh.3_Missense_Mutation_p.S28T|SIRPB2_uc010zpr.1_5'UTR	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	28						integral to membrane					0														0.217391	9.660757	11.357061	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1471924	1471924	14829	20	A	T	T	T	143	11	SIRPB2	3	3
PYGB	5834	broad.mit.edu	37	20	25276279	25276279	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25276279C>T	uc002wup.2	+	c.2352C>T	c.(2350-2352)TGC>TGT	p.C784C	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	784					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)	1					Pyridoxal Phosphate(DB00114)									0.142857	5.013026	7.592315	3	18	KEEP	---	---	---	---	capture		Silent	SNP	25276279	25276279	13318	20	C	T	T	T	337	26	PYGB	2	2
C20orf114	92747	broad.mit.edu	37	20	31890881	31890881	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31890881G>T	uc002wyw.1	+	c.1140_splice	c.e11+1	p.I380_splice	C20orf114_uc002wyx.1_Splice_Site_SNP	NM_033197	NP_149974			LPLUNC1 protein precursor							extracellular space	lipid binding			central_nervous_system(2)	2														0.045455	-10.132127	9.246902	4	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31890881	31890881	2158	20	G	T	T	T	520	40	C20orf114	5	1
FAM83C	128876	broad.mit.edu	37	20	33874426	33874426	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33874426C>T	uc010zux.1	-	c.2156G>A	c.(2155-2157)CGG>CAG	p.R719Q	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.R374Q	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	719										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.061728	-5.161191	11.043182	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33874426	33874426	5861	20	C	T	T	T	299	23	FAM83C	1	1
FAM83C	128876	broad.mit.edu	37	20	33874929	33874929	+	Silent	SNP	G	T	T	rs114056675	by1000genomes	TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33874929G>T	uc010zux.1	-	c.1653C>A	c.(1651-1653)GCC>GCA	p.A551A	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.A206A	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	551										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.2	6.51815	7.772562	3	12	KEEP	---	---	---	---	capture		Silent	SNP	33874929	33874929	5861	20	G	T	T	T	496	39	FAM83C	1	1
SIGLEC1	6614	broad.mit.edu	37	20	3682056	3682056	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3682056C>T	uc002wja.2	-	c.1461G>A	c.(1459-1461)GGG>GGA	p.G487G	SIGLEC1_uc002wiz.3_Silent_p.G487G	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	487	Ig-like C2-type 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|breast(1)|central_nervous_system(1)	8														0.222222	9.524824	10.77828	4	14	KEEP	---	---	---	---	capture		Silent	SNP	3682056	3682056	14800	20	C	T	T	T	275	22	SIGLEC1	2	2
KIAA1755	85449	broad.mit.edu	37	20	36870263	36870263	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36870263G>T	uc002xhy.1	-	c.270C>A	c.(268-270)GTC>GTA	p.V90V	KIAA1755_uc002xhz.1_Silent_p.V90V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	90										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.115108	14.100918	34.398131	16	123	KEEP	---	---	---	---	capture		Silent	SNP	36870263	36870263	8568	20	G	T	T	T	522	41	KIAA1755	2	2
FAM83D	81610	broad.mit.edu	37	20	37580763	37580763	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37580763C>A	uc002xjg.2	+	c.1448C>A	c.(1447-1449)CCT>CAT	p.P483H		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	453					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)												0.135593	11.728361	19.264014	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37580763	37580763	5862	20	C	A	A	A	312	24	FAM83D	2	2
PMEPA1	56937	broad.mit.edu	37	20	56227579	56227579	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56227579G>A	uc002xyq.2	-	c.394C>T	c.(394-396)CGC>TGC	p.R132C	PMEPA1_uc002xyr.2_Missense_Mutation_p.R82C|PMEPA1_uc002xys.2_Missense_Mutation_p.R97C|PMEPA1_uc002xyt.2_Missense_Mutation_p.R82C	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	132	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1														0.28	18.675341	19.726845	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56227579	56227579	12558	20	G	A	A	A	507	39	PMEPA1	1	1
TPTE	7179	broad.mit.edu	37	21	10970051	10970051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10970051C>A	uc002yip.1	-	c.77G>T	c.(76-78)AGT>ATT	p.S26I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S26I|TPTE_uc002yir.1_Missense_Mutation_p.S26I|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	26					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)										0.083333	0.878127	32.654846	15	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10970051	10970051	16974	21	C	A	A	A	260	20	TPTE	2	2
CECR6	27439	broad.mit.edu	37	22	17601064	17601064	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17601064C>A	uc002zmb.2	-	c.954G>T	c.(952-954)TGG>TGT	p.W318C	CECR6_uc002zma.2_Intron	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	318											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)										0.384615	24.938042	25.243248	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17601064	17601064	3341	22	C	A	A	A	338	26	CECR6	2	2
CECR2	27443	broad.mit.edu	37	22	18022674	18022674	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18022674G>C	uc010gqw.1	+	c.2776G>C	c.(2776-2778)GAG>CAG	p.E926Q	CECR2_uc010gqv.1_Missense_Mutation_p.E785Q|CECR2_uc002zml.2_Missense_Mutation_p.E785Q	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	968					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)										0.542857	69.231088	69.287462	19	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18022674	18022674	3339	22	G	C	C	C	429	33	CECR2	3	3
SNRPD3	6634	broad.mit.edu	37	22	24964112	24964112	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24964112G>T	uc003aam.1	+	c.287G>T	c.(286-288)GGC>GTC	p.G96V	SNRPD3_uc011aju.1_Missense_Mutation_p.G96V	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1														0.444444	61.446034	61.578791	24	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24964112	24964112	15366	22	G	T	T	T	546	42	SNRPD3	2	2
MOV10L1	54456	broad.mit.edu	37	22	50563938	50563938	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50563938G>C	uc003bjj.2	+	c.1687G>C	c.(1687-1689)GGG>CGG	p.G563R	MOV10L1_uc003bjk.3_Missense_Mutation_p.G563R|MOV10L1_uc011arp.1_Missense_Mutation_p.G543R|MOV10L1_uc011arq.1_Missense_Mutation_p.G324R|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	563					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)										0.3	23.861697	24.934889	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50563938	50563938	10111	22	G	C	C	C	611	47	MOV10L1	3	3
LRP1B	53353	broad.mit.edu	37	2	141027816	141027816	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141027816C>T	uc002tvj.1	-	c.13242G>A	c.(13240-13242)GTG>GTA	p.V4414V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4414	Extracellular (Potential).|EGF-like 14.				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)			0.130435	7.215519	13.331632	6	40	KEEP	---	---	---	---	capture		Silent	SNP	141027816	141027816	9328	2	C	T	T	T	210	17	LRP1B	2	2
PDE11A	50940	broad.mit.edu	37	2	178565928	178565928	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178565928G>T	uc002ulq.2	-	c.2165C>A	c.(2164-2166)GCC>GAC	p.A722D	PDE11A_uc002ulp.2_Missense_Mutation_p.A278D|PDE11A_uc002ulr.2_Missense_Mutation_p.A472D|PDE11A_uc002uls.1_Missense_Mutation_p.A364D|PDE11A_uc002ult.1_Missense_Mutation_p.A472D|PDE11A_uc002ulu.1_Missense_Mutation_p.A364D	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	722	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											0.392857	30.129299	30.406719	11	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178565928	178565928	12052	2	G	T	T	T	546	42	PDE11A	2	2
TTN	7273	broad.mit.edu	37	2	179590742	179590742	+	Silent	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179590742T>A	uc010zfg.1	-	c.16575A>T	c.(16573-16575)ATA>ATT	p.I5525I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.I2186I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2542										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				0.26	34.355705	36.96095	13	37	KEEP	---	---	---	---	capture		Silent	SNP	179590742	179590742	17290	2	T	A	A	A	680	53	TTN	3	3
PARD3B	117583	broad.mit.edu	37	2	205989156	205989156	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:205989156A>G	uc002var.1	+	c.1271A>G	c.(1270-1272)GAT>GGT	p.D424G	PARD3B_uc010fub.1_Missense_Mutation_p.D424G|PARD3B_uc002vao.1_Missense_Mutation_p.D424G|PARD3B_uc002vap.1_Missense_Mutation_p.D424G|PARD3B_uc002vaq.1_Missense_Mutation_p.D424G	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	424	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.254902	31.942559	34.730631	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205989156	205989156	11861	2	A	G	G	G	156	12	PARD3B	4	4
CCNYL1	151195	broad.mit.edu	37	2	208611892	208611892	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208611892A>T	uc002vci.2	+	c.608A>T	c.(607-609)AAT>ATT	p.N203I	CCNYL1_uc002vch.2_Missense_Mutation_p.N184I	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1 isoform 1	254	Cyclin N-terminal.										0				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)										0.288136	45.629972	48.020408	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	208611892	208611892	3064	2	A	T	T	T	52	4	CCNYL1	3	3
APOB	338	broad.mit.edu	37	2	21236288	21236288	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21236288G>T	uc002red.2	-	c.3960C>A	c.(3958-3960)GCC>GCA	p.A1320A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1320					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)									0.252101	73.309198	79.877501	30	89	KEEP	---	---	---	---	capture		Silent	SNP	21236288	21236288	796	2	G	T	T	T	548	43	APOB	2	2
SPEG	10290	broad.mit.edu	37	2	220333907	220333907	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220333907C>A	uc010fwg.2	+	c.3521C>A	c.(3520-3522)CCC>CAC	p.P1174H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1174					muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.333333	8.021551	8.243181	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220333907	220333907	15548	2	C	A	A	A	286	22	SPEG	2	2
NGEF	25791	broad.mit.edu	37	2	233785158	233785158	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233785158C>A	uc002vts.2	-	c.664G>T	c.(664-666)GAG>TAG	p.E222*	NGEF_uc010fyg.1_Nonsense_Mutation_p.E130*|NGEF_uc002vtt.2_Nonsense_Mutation_p.E130*	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	222	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)										0.361111	31.439167	32.060525	13	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	233785158	233785158	10794	2	C	A	A	A	390	30	NGEF	5	2
ADCY3	109	broad.mit.edu	37	2	25059851	25059851	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25059851C>T	uc010ykm.1	-	c.1597G>A	c.(1597-1599)GAG>AAG	p.E533K	ADCY3_uc002rfr.3_Missense_Mutation_p.E166K|ADCY3_uc002rfs.3_Missense_Mutation_p.E533K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	533	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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)													0.230769	6.821718	7.682966	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25059851	25059851	296	2	C	T	T	T	390	30	ADCY3	2	2
ALK	238	broad.mit.edu	37	2	29917779	29917779	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29917779C>A	uc002rmy.2	-	c.889G>T	c.(889-891)GAG>TAG	p.E297*		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	297	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.290323	67.287348	70.95467	27	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29917779	29917779	528	2	C	A	A	A	390	30	ALK	5	2
LTBP1	4052	broad.mit.edu	37	2	33622279	33622279	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33622279G>T	uc002ros.2	+	c.4917G>T	c.(4915-4917)AGG>AGT	p.R1639S	LTBP1_uc002rot.2_Missense_Mutation_p.R1313S|LTBP1_uc002rou.2_Missense_Mutation_p.R1312S|LTBP1_uc002rov.2_Missense_Mutation_p.R1259S|LTBP1_uc010ymz.1_Missense_Mutation_p.R1270S|LTBP1_uc010yna.1_Missense_Mutation_p.R1217S|LTBP1_uc010ynb.1_Missense_Mutation_p.R536S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1638	EGF-like 17.				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)												0.382979	46.59623	47.173832	18	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33622279	33622279	9449	2	G	T	T	T	555	43	LTBP1	2	2
VIT	5212	broad.mit.edu	37	2	36982177	36982178	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:36982177_36982178GA>TT	uc002rpl.2	+	c.389_390GA>TT	c.(388-390)AGA>ATT	p.R130I	VIT_uc002rpk.2_Missense_Mutation_p.R123I|VIT_uc010ynf.1_Missense_Mutation_p.R123I|VIT_uc002rpm.2_Missense_Mutation_p.R123I|VIT_uc010ezv.2_Missense_Mutation_p.R123I|VIT_uc010ezw.2_Missense_Mutation_p.R123I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	130	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.223881	37.495308	42.186663	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	36982177	36982178	17738	2	GA	TT	TT	TT	429	33	VIT	2	2
ALLC	55821	broad.mit.edu	37	2	3743369	3743369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3743369C>A	uc010ewt.2	+	c.574C>A	c.(574-576)CCC>ACC	p.P192T	ALLC_uc002qyf.2_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	211							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)										0.16129	9.355437	12.738985	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3743369	3743369	537	2	C	A	A	A	286	22	ALLC	2	2
GGCX	2677	broad.mit.edu	37	2	85783362	85783362	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85783362A>C	uc002sps.2	-	c.561T>G	c.(559-561)AAT>AAG	p.N187K	GGCX_uc010yss.1_Missense_Mutation_p.N26K|GGCX_uc010yst.1_Missense_Mutation_p.N130K	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	187	Lumenal (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)									0.216216	20.18526	22.930917	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85783362	85783362	6624	2	A	C	C	C	102	8	GGCX	4	4
VWA3B	200403	broad.mit.edu	37	2	98779317	98779317	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98779317C>A	uc002syo.2	+	c.992C>A	c.(991-993)GCT>GAT	p.A331D	VWA3B_uc010yvh.1_Missense_Mutation_p.A181D|VWA3B_uc002syj.2_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_De_novo_Start_InFrame|VWA3B_uc002sym.2_Missense_Mutation_p.A331D|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_De_novo_Start_OutOfFrame	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	331										ovary(3)|large_intestine(2)	5														0.230769	14.37083	16.0742	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98779317	98779317	17810	2	C	A	A	A	364	28	VWA3B	2	2
GPR128	84873	broad.mit.edu	37	3	100365438	100365438	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100365438A>C	uc003duc.2	+	c.1136A>C	c.(1135-1137)TAT>TCT	p.Y379S	GPR128_uc011bhc.1_Missense_Mutation_p.Y80S	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	379	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.241379	20.012394	21.780262	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100365438	100365438	6915	3	A	C	C	C	208	16	GPR128	4	4
CD200R1	131450	broad.mit.edu	37	3	112643970	112643970	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112643970G>T	uc003dzj.1	-	c.840C>A	c.(838-840)ATC>ATA	p.I280I	CD200R1_uc003dzk.1_Silent_p.I257I|CD200R1_uc011bhx.1_Intron	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	CD200 receptor 1 isoform a	257	Helical; (Potential).				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			ovary(2)|pancreas(1)	3														0.148936	12.201472	17.753232	7	40	KEEP	---	---	---	---	capture		Silent	SNP	112643970	112643970	3108	3	G	T	T	T	473	37	CD200R1	1	1
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125651539A>C	uc003eig.1	-	c.114T>G	c.(112-114)CTT>CTG	p.L38L		NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	38							transferase activity, transferring glycosyl groups				0														0.153846	8.984489	11.961572	4	22	KEEP	---	---	---	---	capture		Silent	SNP	125651539	125651539	520	3	A	C	C	C	158	13	ALG1L	4	4
SI	6476	broad.mit.edu	37	3	164735438	164735438	+	Silent	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164735438T>G	uc003fei.2	-	c.3657A>C	c.(3655-3657)CCA>CCC	p.P1219P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1219	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)									0.307692	10.794192	11.22334	4	9	KEEP	---	---	---	---	capture		Silent	SNP	164735438	164735438	14792	3	T	G	G	G	704	55	SI	4	4
SI	6476	broad.mit.edu	37	3	164735848	164735848	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164735848G>T	uc003fei.2	-	c.3430C>A	c.(3430-3432)CTT>ATT	p.L1144I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1144	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)									0.36	26.66767	27.099204	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164735848	164735848	14792	3	G	T	T	T	468	36	SI	2	2
NDUFB5	4711	broad.mit.edu	37	3	179341712	179341712	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179341712A>G	uc003fkc.2	+	c.454A>G	c.(454-456)AAG>GAG	p.K152E	NDUFB5_uc003fkd.2_Non-coding_Transcript|NDUFB5_uc003fke.2_Missense_Mutation_p.K100E	NM_002492	NP_002483	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	152					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)									0.089431	5.626628	26.572923	11	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179341712	179341712	10683	3	A	G	G	G	13	1	NDUFB5	4	4
UBE2E2	7325	broad.mit.edu	37	3	23574055	23574055	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:23574055G>T	uc003ccg.2	+	c.371G>T	c.(370-372)CGA>CTA	p.R124L	UBE2E2_uc010hfc.2_Non-coding_Transcript	NM_152653	NP_689866	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	124					ISG15-protein conjugation|post-translational protein modification|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity				0						GBM(85;1941 2083 9456)								0.2	7.618346	8.872337	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23574055	23574055	17410	3	G	T	T	T	481	37	UBE2E2	1	1
NEK10	152110	broad.mit.edu	37	3	27161276	27161276	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27161276G>T	uc010hfk.2	-	c.1272C>A	c.(1270-1272)AAC>AAA	p.N424K	NEK10_uc010hfj.2_Missense_Mutation_p.N367K	NEK10		Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1112					protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	11										332				0.482759	44.649711	44.657145	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27161276	27161276	10721	3	G	T	T	T	612	48	NEK10	2	2
ULK4	54986	broad.mit.edu	37	3	41504623	41504623	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:41504623G>A	uc003ckv.3	-	c.3348C>T	c.(3346-3348)CAC>CAT	p.H1116H		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1116					protein phosphorylation		ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)						538				0.083333	-0.257122	16.676777	8	88	KEEP	---	---	---	---	capture		Silent	SNP	41504623	41504623	17536	3	G	A	A	A	620	48	ULK4	2	2
CAMKV	79012	broad.mit.edu	37	3	49897636	49897637	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49897636_49897637TC>AA	uc003cxt.1	-	c.909_910GA>TT	c.(907-912)CAGATT>CATTTT	p.303_304QI>HF	CAMKV_uc011bcy.1_Missense_Mutation_p.228_229QI>HF|CAMKV_uc003cxv.1_Missense_Mutation_p.275_276QI>HF|CAMKV_uc003cxw.1_Missense_Mutation_p.135_136QI>HF|CAMKV_uc003cxx.1_Missense_Mutation_p.135_136QI>HF|CAMKV_uc003cxu.2_Missense_Mutation_p.303_304QI>HF|CAMKV_uc011bcz.1_Missense_Mutation_p.266_267QI>HF|CAMKV_uc011bda.1_Missense_Mutation_p.260_261QI>HF|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	303_304					protein phosphorylation	cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)						82				0.259259	18.914421	20.330435	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	49897636	49897637	2725	3	TC	AA	AA	AA	650	50	CAMKV	3	3
NAT6	24142	broad.mit.edu	37	3	50334635	50334635	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50334635C>T	uc003czj.2	-	c.326G>A	c.(325-327)CGC>CAC	p.R109H	HYAL3_uc003czc.1_Intron|HYAL3_uc003czd.1_Intron|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Intron|NAT6_uc003czi.2_Missense_Mutation_p.R87H|NAT6_uc003czk.3_Missense_Mutation_p.R87H|NAT6_uc003czl.1_Missense_Mutation_p.R87H	NM_012191	NP_036323	Q93015	NAT6_HUMAN	N-acetyltransferase 6	87	N-acetyltransferase.					cytoplasm	N-acetyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)										0.5	18.250312	18.250312	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50334635	50334635	10574	3	C	T	T	T	351	27	NAT6	1	1
C3orf67	200844	broad.mit.edu	37	3	58817568	58817568	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58817568C>T	uc003dkt.1	-	c.1266G>A	c.(1264-1266)GAG>GAA	p.E422E	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Silent_p.E363E	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	428											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)										0.325	37.362268	38.448733	13	27	KEEP	---	---	---	---	capture		Silent	SNP	58817568	58817568	2334	3	C	T	T	T	259	20	C3orf67	2	2
VGLL3	389136	broad.mit.edu	37	3	87018027	87018027	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:87018027G>C	uc003dqn.2	-	c.650C>G	c.(649-651)CCA>CGA	p.P217R		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription regulator activity				0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)										0.256757	41.078337	45.061388	19	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87018027	87018027	17727	3	G	C	C	C	611	47	VGLL3	3	3
HTR1F	3355	broad.mit.edu	37	3	88040437	88040437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:88040437G>T	uc003dqr.2	+	c.538G>T	c.(538-540)GTT>TTT	p.V180F		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	180	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)									0.4375	43.846021	43.954821	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88040437	88040437	7740	3	G	T	T	T	624	48	HTR1F	2	2
EPHA3	2042	broad.mit.edu	37	3	89499516	89499516	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89499516G>T	uc003dqy.2	+	c.2686G>T	c.(2686-2688)GCA>TCA	p.A896S	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	896	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)					p.A896T(LOVO-Tumor)	416	TSP Lung(6;0.00050)			0.52381	71.75354	71.774407	22	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89499516	89499516	5361	3	G	T	T	T	494	38	EPHA3	1	1
ANXA5	308	broad.mit.edu	37	4	122604575	122604575	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122604575C>A	uc003idu.3	-	c.247G>T	c.(247-249)GCT>TCT	p.A83S	ANXA5_uc003idv.3_Missense_Mutation_p.A83S|ANXA5_uc003idw.3_Non-coding_Transcript|ANXA5_uc010inm.2_Missense_Mutation_p.A83S|ANXA5_uc010inn.2_Missense_Mutation_p.A23S|ANXA5_uc010ino.2_Intron	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5	83	Annexin 1.				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)								0.080808	0.119346	17.852544	8	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122604575	122604575	729	4	C	A	A	A	338	26	ANXA5	2	2
INTU	27152	broad.mit.edu	37	4	128565196	128565196	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128565196G>T	uc003ifk.1	+	c.667G>T	c.(667-669)GGT>TGT	p.G223C	INTU_uc011cgq.1_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	223	PDZ.									ovary(1)	1														0.390625	74.921742	75.570878	25	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128565196	128565196	8087	4	G	T	T	T	507	39	INTU	1	1
BOD1L	259282	broad.mit.edu	37	4	13590377	13590377	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13590377C>A	uc003gmz.1	-	c.8249G>T	c.(8248-8250)AGC>ATC	p.S2750I		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2750							DNA binding			ovary(5)|breast(1)	6														0.307692	11.294844	11.723571	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13590377	13590377	1508	4	C	A	A	A	364	28	BOD1L	2	2
INPP4B	8821	broad.mit.edu	37	4	143130048	143130048	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143130048C>A	uc003iix.3	-	c.967_splice	c.e14+1	p.G323_splice	INPP4B_uc003iiw.3_Splice_Site_SNP_p.G323_splice|INPP4B_uc011chm.1_Splice_Site_SNP|INPP4B_uc011chn.1_Splice_Site_SNP_p.G138_splice|INPP4B_uc011cho.1_Splice_Site_SNP|INPP4B_uc011chp.1_Splice_Site_SNP_p.G194_splice	NM_003866	NP_003857			inositol polyphosphate-4-phosphatase, type II,						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.217391	24.826689	28.212881	10	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	143130048	143130048	8054	4	C	A	A	A	234	18	INPP4B	5	2
FGB	2244	broad.mit.edu	37	4	155486973	155486973	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155486973C>A	uc003ioa.3	+	c.128C>A	c.(127-129)GCC>GAC	p.A43D	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc003iob.3_Missense_Mutation_p.A40D|FGB_uc010ipv.2_Missense_Mutation_p.A40D|FGB_uc010ipw.2_Missense_Mutation_p.A40D|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	43			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)	2	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	NSCLC(106;1133 1613 21870 46110 52656)								0.238095	11.663486	12.980105	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155486973	155486973	6068	4	C	A	A	A	338	26	FGB	2	2
AADAT	51166	broad.mit.edu	37	4	170991790	170991790	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170991790T>C	uc003ist.2	-	c.680A>G	c.(679-681)TAT>TGT	p.Y227C	AADAT_uc003isr.2_Missense_Mutation_p.Y223C|AADAT_uc003iss.2_Missense_Mutation_p.Y223C	NM_182662	NP_872603	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	223					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity				0		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.1875	15.332161	18.257159	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170991790	170991790	15	4	T	C	C	C	637	49	AADAT	4	4
ODZ3	55714	broad.mit.edu	37	4	183522271	183522271	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183522271C>T	uc003ivd.1	+	c.706C>T	c.(706-708)CAG>TAG	p.Q236*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	236	Cytoplasmic (Potential).|Teneurin N-terminal.				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)										0.461538	82.029222	82.114149	30	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183522271	183522271	11241	4	C	T	T	T	325	25	ODZ3	5	2
WDR19	57728	broad.mit.edu	37	4	39233832	39233832	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39233832C>T	uc003gtv.2	+	c.2193C>T	c.(2191-2193)AAC>AAT	p.N731N	WDR19_uc011byi.1_Silent_p.N571N|WDR19_uc003gtw.1_Silent_p.N328N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	731					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1														0.058511	-14.411416	23.965407	11	177	KEEP	---	---	---	---	capture		Silent	SNP	39233832	39233832	17852	4	C	T	T	T	246	19	WDR19	1	1
GABRA2	2555	broad.mit.edu	37	4	46307650	46307650	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46307650G>T	uc003gxc.3	-	c.638C>A	c.(637-639)TCT>TAT	p.S213Y	GABRA2_uc010igc.2_Missense_Mutation_p.S213Y|GABRA2_uc011bzc.1_Missense_Mutation_p.S158Y|GABRA2_uc003gxe.2_Missense_Mutation_p.S213Y	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	213	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.163934	18.214046	24.755926	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46307650	46307650	6412	4	G	T	T	T	429	33	GABRA2	2	2
SPATA18	132671	broad.mit.edu	37	4	52938246	52938246	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52938246G>T	uc003gzl.2	+	c.682G>T	c.(682-684)GAT>TAT	p.D228Y	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Missense_Mutation_p.D196Y|SPATA18_uc003gzk.1_Missense_Mutation_p.D228Y	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	228	Potential.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)											0.3	92.748515	96.670369	33	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52938246	52938246	15511	4	G	T	T	T	481	37	SPATA18	1	1
KIAA1211	57482	broad.mit.edu	37	4	57190412	57190412	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57190412C>T	uc003hbk.2	+	c.3521C>T	c.(3520-3522)ACT>ATT	p.T1174I	KIAA1211_uc010iha.2_Missense_Mutation_p.T1167I	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1174										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.419355	37.750416	37.930166	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57190412	57190412	8523	4	C	T	T	T	260	20	KIAA1211	2	2
LPHN3	23284	broad.mit.edu	37	4	62599230	62599230	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62599230G>T	uc010ihh.2	+	c.1153G>T	c.(1153-1155)GTG>TTG	p.V385L	LPHN3_uc003hcq.3_Missense_Mutation_p.V385L|LPHN3_uc010ihg.1_Missense_Mutation_p.V453L|LPHN3_uc003hcs.1_Missense_Mutation_p.V214L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	385	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.310345	26.264534	27.193603	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62599230	62599230	9290	4	G	T	T	T	520	40	LPHN3	1	1
DMXL1	1657	broad.mit.edu	37	5	118506471	118506471	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118506471A>T	uc010jcl.1	+	c.5985A>T	c.(5983-5985)AAA>AAT	p.K1995N	DMXL1_uc003ksd.2_Missense_Mutation_p.K1995N	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1995										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.241379	15.908444	17.680023	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118506471	118506471	4776	5	A	T	T	T	11	1	DMXL1	3	3
PCDHA7	56141	broad.mit.edu	37	5	140215571	140215571	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215571G>A	uc003lhq.2	+	c.1603G>A	c.(1603-1605)GTG>ATG	p.V535M	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_uc011dac.1_Missense_Mutation_p.V535M	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	535	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.162791	11.12811	15.753008	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140215571	140215571	11949	5	G	A	A	A	572	44	PCDHA7	2	2
PCDHB8	56128	broad.mit.edu	37	5	140558412	140558412	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140558412C>A	uc011dai.1	+	c.797C>A	c.(796-798)TCT>TAT	p.S266Y	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	266	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.175926	35.766345	46.455305	19	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140558412	140558412	11968	5	C	A	A	A	416	32	PCDHB8	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140773370	140773370	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140773370G>T	uc003lkd.1	+	c.990G>T	c.(988-990)AGG>AGT	p.R330S	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.R330S	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	330	Cadherin 3.|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)											0.168539	26.465735	35.731178	15	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140773370	140773370	11980	5	G	T	T	T	529	41	PCDHGA8	2	2
PCDH1	5097	broad.mit.edu	37	5	141248394	141248394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141248394C>A	uc003llp.2	-	c.643G>T	c.(643-645)GAG>TAG	p.E215*	PCDH1_uc011dbf.1_Nonsense_Mutation_p.E193*|PCDH1_uc003llq.2_Nonsense_Mutation_p.E215*	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	215	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		Ovarian(132;1609 1739 4190 14731 45037)								0.261628	105.921509	114.751828	45	127	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141248394	141248394	11926	5	C	A	A	A	390	30	PCDH1	5	2
LARS	51520	broad.mit.edu	37	5	145547791	145547791	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145547791T>C	uc003lnx.1	-	c.332A>G	c.(331-333)TAT>TGT	p.Y111C	LARS_uc011dbq.1_Intron|LARS_uc011dbr.1_Missense_Mutation_p.Y57C|LARS_uc011dbs.1_Missense_Mutation_p.Y84C	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	111					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)									0.2	27.593803	32.198385	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145547791	145547791	8957	5	T	C	C	C	637	49	LARS	4	4
HAND1	9421	broad.mit.edu	37	5	153857468	153857468	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153857468C>T	uc003lvn.2	-	c.101G>A	c.(100-102)CGC>CAC	p.R34H		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	34					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity|transcription repressor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)											0.171429	9.327221	12.903581	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153857468	153857468	7231	5	C	T	T	T	351	27	HAND1	1	1
PRDM9	56979	broad.mit.edu	37	5	23524602	23524602	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23524602C>A	uc003jgo.2	+	c.1110C>A	c.(1108-1110)GGC>GGA	p.G370G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	370					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.145455	13.468333	20.113892	8	47	KEEP	---	---	---	---	capture		Silent	SNP	23524602	23524602	12906	5	C	A	A	A	314	25	PRDM9	2	2
CDH6	1004	broad.mit.edu	37	5	31299735	31299735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31299735C>A	uc003jhe.1	+	c.808C>A	c.(808-810)CAG>AAG	p.Q270K	CDH6_uc003jhd.1_Missense_Mutation_p.Q270K	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	270	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.27907	30.87863	32.768442	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31299735	31299735	3243	5	C	A	A	A	273	21	CDH6	2	2
ZFR	51663	broad.mit.edu	37	5	32403291	32403291	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32403291C>T	uc003jhr.1	-	c.1436G>A	c.(1435-1437)AGC>AAC	p.S479N		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	479					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)										0.046358	-18.860559	14.247187	7	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32403291	32403291	18249	5	C	T	T	T	364	28	ZFR	2	2
SLC45A2	51151	broad.mit.edu	37	5	33947341	33947341	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33947341C>A	uc003jid.2	-	c.1295G>T	c.(1294-1296)GGT>GTT	p.G432V	SLC45A2_uc003jie.2_Missense_Mutation_p.G432V	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	432	Helical; Name=10; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.050209	-28.203919	22.990033	12	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33947341	33947341	15138	5	C	A	A	A	234	18	SLC45A2	2	2
HCN1	348980	broad.mit.edu	37	5	45267328	45267328	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45267328C>A	uc003jok.2	-	c.1646G>T	c.(1645-1647)CGT>CTT	p.R549L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	549	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.207792	39.765398	45.849512	16	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45267328	45267328	7278	5	C	A	A	A	247	19	HCN1	1	1
NSUN2	54888	broad.mit.edu	37	5	6609940	6609940	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:6609940T>A	uc003jdu.2	-	c.1322A>T	c.(1321-1323)AAG>ATG	p.K441M	NSUN2_uc003jdt.2_Missense_Mutation_p.K205M|NSUN2_uc011cmk.1_Missense_Mutation_p.K406M|NSUN2_uc003jdv.2_Missense_Mutation_p.K205M	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	441						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.145455	13.078281	19.71624	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6609940	6609940	11083	5	T	A	A	A	728	56	NSUN2	3	3
SV2C	22987	broad.mit.edu	37	5	75427579	75427579	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75427579G>C	uc003kei.1	+	c.4G>C	c.(4-6)GAA>CAA	p.E2Q		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	2	Interaction with SYT1 (By similarity).|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)										0.25	61.435628	66.20656	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75427579	75427579	15939	5	G	C	C	C	533	41	SV2C	3	3
AIM1	202	broad.mit.edu	37	6	106967309	106967309	+	Silent	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106967309G>C	uc003prh.2	+	c.1002G>C	c.(1000-1002)GTG>GTC	p.V334V		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	334							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				0.415094	67.503861	67.845104	22	31	KEEP	---	---	---	---	capture		Silent	SNP	106967309	106967309	433	6	G	C	C	C	587	46	AIM1	3	3
SYNE1	23345	broad.mit.edu	37	6	152712447	152712447	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152712447T>G	uc010kiw.2	-	c.7969A>C	c.(7969-7971)AAA>CAA	p.K2657Q	SYNE1_uc003qot.3_Missense_Mutation_p.K2664Q|SYNE1_uc003qou.3_Missense_Mutation_p.K2657Q|SYNE1_uc010kjb.1_Missense_Mutation_p.K2640Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2657	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.333333	21.219614	21.735421	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152712447	152712447	15966	6	T	G	G	G	819	63	SYNE1	4	4
UNC93A	54346	broad.mit.edu	37	6	167711434	167711434	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167711434G>A	uc003qvq.2	+	c.501G>A	c.(499-501)GAG>GAA	p.E167E	UNC93A_uc003qvr.2_Intron	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	167						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.4	12.197857	12.285363	4	6	KEEP	---	---	---	---	capture		Silent	SNP	167711434	167711434	17555	6	G	A	A	A	425	33	UNC93A	2	2
NRSN1	140767	broad.mit.edu	37	6	24145856	24145856	+	Silent	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24145856C>T	uc010jpq.1	+	c.270C>T	c.(268-270)ATC>ATT	p.I90I		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	90					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0														0.311111	78.976955	81.831199	28	62	KEEP	---	---	---	---	capture		Silent	SNP	24145856	24145856	11067	6	C	T	T	T	395	31	NRSN1	1	1
ZNF165	7718	broad.mit.edu	37	6	28056534	28056534	+	Silent	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28056534G>C	uc003nkg.2	+	c.744G>C	c.(742-744)TCG>TCC	p.S248S	ZNF165_uc003nkh.2_Silent_p.S248S|ZNF165_uc003nki.3_Silent_p.S248S|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	248					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.273437	106.202353	112.101752	35	93	KEEP	---	---	---	---	capture		Silent	SNP	28056534	28056534	18331	6	G	C	C	C	509	40	ZNF165	3	3
DUSP22	56940	broad.mit.edu	37	6	348140	348140	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:348140G>T	uc003msx.2	+	c.301G>T	c.(301-303)GCA>TCA	p.A101S	DUSP22_uc011dhn.1_Missense_Mutation_p.A101S|DUSP22_uc003msy.1_Missense_Mutation_p.A58S	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	101	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)										0.0625	-3.231986	9.514179	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	348140	348140	5006	6	G	T	T	T	494	38	DUSP22	1	1
FOXP4	116113	broad.mit.edu	37	6	41557832	41557832	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41557832G>T	uc003oql.2	+	c.1281G>T	c.(1279-1281)CTG>CTT	p.L427L	FOXP4_uc003oqm.2_Silent_p.L425L|FOXP4_uc003oqn.2_Silent_p.L414L	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	427					embryonic foregut morphogenesis|heart development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)													0.296296	20.288235	21.291189	8	19	KEEP	---	---	---	---	capture		Silent	SNP	41557832	41557832	6275	6	G	T	T	T	600	47	FOXP4	2	2
RPL7L1	285855	broad.mit.edu	37	6	42847687	42847687	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42847687A>T	uc003osq.1	+	c.12A>T	c.(10-12)CAA>CAT	p.Q4H	RPL7L1_uc011dux.1_Missense_Mutation_p.Q4H|RPL7L1_uc010jxw.1_De_novo_Start_OutOfFrame|RPL7L1_uc003osr.1_De_novo_Start_OutOfFrame|RPL7L1_uc011duy.1_Missense_Mutation_p.Q4H|RPL7L1_uc003oss.1_De_novo_Start_OutOfFrame|RPL7L1_uc003ost.2_Missense_Mutation_p.Q4H|RPL7L1_uc003osu.2_5'Flank	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	4					translation	large ribosomal subunit	protein binding|structural constituent of ribosome|transcription regulator activity				0	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)											0.173913	14.674073	19.290139	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42847687	42847687	14080	6	A	T	T	T	37	3	RPL7L1	3	3
RHAG	6005	broad.mit.edu	37	6	49578832	49578832	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49578832G>T	uc003ozk.3	-	c.972C>A	c.(970-972)ATC>ATA	p.I324I	RHAG_uc010jzl.2_Silent_p.I324I|RHAG_uc010jzm.2_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	324	Cytoplasmic (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.23913	25.698734	28.559874	11	35	KEEP	---	---	---	---	capture		Silent	SNP	49578832	49578832	13790	6	G	T	T	T	525	41	RHAG	2	2
PGK2	5232	broad.mit.edu	37	6	49754451	49754451	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754451G>T	uc003ozu.2	-	c.450C>A	c.(448-450)TTC>TTA	p.F150L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	150					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.21875	30.018375	34.68236	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49754451	49754451	12214	6	G	T	T	T	529	41	PGK2	2	2
HMGCLL1	54511	broad.mit.edu	37	6	55360313	55360313	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55360313C>A	uc003pcn.2	-	c.789G>T	c.(787-789)TTG>TTT	p.L263F	HMGCLL1_uc003pco.2_Missense_Mutation_p.L233F|HMGCLL1_uc010jzx.2_Missense_Mutation_p.L134F|HMGCLL1_uc011dxc.1_Missense_Mutation_p.L201F|HMGCLL1_uc011dxd.1_Missense_Mutation_p.L130F|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	263							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			Ovarian(35;840 893 7837 15538 42887)								0.244444	28.101087	30.779872	11	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55360313	55360313	7521	6	C	A	A	A	272	21	HMGCLL1	2	2
DSP	1832	broad.mit.edu	37	6	7578716	7578716	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7578716G>T	uc003mxp.1	+	c.3005G>T	c.(3004-3006)CGG>CTG	p.R1002L	DSP_uc003mxq.1_Missense_Mutation_p.R1002L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1002	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.363636	63.491287	64.388504	20	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578716	7578716	4965	6	G	T	T	T	507	39	DSP	1	1
IBTK	25998	broad.mit.edu	37	6	82911190	82911190	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:82911190A>T	uc003pjl.1	-	c.2739T>A	c.(2737-2739)GAT>GAA	p.D913E	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.D913E|IBTK_uc011dyw.1_Missense_Mutation_p.D712E|IBTK_uc010kbi.1_Missense_Mutation_p.D607E|IBTK_uc003pjm.2_Missense_Mutation_p.D913E	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	913					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)										0.266667	11.793364	12.530866	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82911190	82911190	7776	6	A	T	T	T	102	8	IBTK	3	3
GCC1	79571	broad.mit.edu	37	7	127222355	127222355	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127222355C>A	uc003vma.2	-	c.2041G>T	c.(2041-2043)GTG>TTG	p.V681L		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	681	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2														0.195122	17.402692	20.937182	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127222355	127222355	6551	7	C	A	A	A	234	18	GCC1	2	2
SVOPL	136306	broad.mit.edu	37	7	138333867	138333867	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138333867C>A	uc011kqh.1	-	c.550G>T	c.(550-552)GGC>TGC	p.G184C	SVOPL_uc003vue.2_Missense_Mutation_p.G32C	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	184	Helical; (Potential).				transmembrane transport	integral to membrane	transporter activity				0														0.333333	22.871731	23.533108	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138333867	138333867	15944	7	C	A	A	A	286	22	SVOPL	2	2
KIAA1549	57670	broad.mit.edu	37	7	138583815	138583815	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138583815C>T	uc011kql.1	-	c.3733G>A	c.(3733-3735)GAT>AAT	p.D1245N	KIAA1549_uc011kqi.1_Missense_Mutation_p.D29N|KIAA1549_uc003vuk.3_Missense_Mutation_p.D1195N|KIAA1549_uc011kqj.1_Missense_Mutation_p.D1245N|KIAA1549_uc011kqk.1_Missense_Mutation_p.D29N	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1245						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.304615	272.399125	283.471543	99	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138583815	138583815	8553	7	C	T	T	T	390	30	KIAA1549	2	2
WEE2	494551	broad.mit.edu	37	7	141424003	141424003	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141424003C>A	uc003vwn.2	+	c.1149C>A	c.(1147-1149)CAC>CAA	p.H383Q	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	383	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|protein phosphorylation|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)									241				0.453125	92.367839	92.490244	29	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141424003	141424003	17919	7	C	A	A	A	246	19	WEE2	1	1
MLL3	58508	broad.mit.edu	37	7	151856048	151856048	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151856048G>A	uc003wla.2	-	c.11570C>T	c.(11569-11571)ACG>ATG	p.T3857M	MLL3_uc003wkz.2_Missense_Mutation_p.T2918M|MLL3_uc003wkx.2_5'Flank|MLL3_uc003wky.2_Missense_Mutation_p.T1366M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3857					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.151079	33.486529	49.701625	21	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151856048	151856048	10012	7	G	A	A	A	520	40	MLL3	1	1
CRHR2	1395	broad.mit.edu	37	7	30693187	30693187	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30693187G>A	uc003tbp.2	-	c.1206C>T	c.(1204-1206)CAC>CAT	p.H402H	CRHR2_uc003tbn.2_Silent_p.H375H|CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Silent_p.H374H|CRHR2_uc010kvy.1_Silent_p.H211H|CRHR2_uc003tbo.2_Silent_p.H361H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	375	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			ovary(1)	1														0.086957	0.095089	12.01962	6	63	KEEP	---	---	---	---	capture		Silent	SNP	30693187	30693187	4011	7	G	A	A	A	568	44	CRHR2	2	2
TNS3	64759	broad.mit.edu	37	7	47384613	47384613	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47384613C>G	uc003tnv.2	-	c.2475G>C	c.(2473-2475)CAG>CAC	p.Q825H	TNS3_uc003tnw.2_Missense_Mutation_p.Q825H	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	825						focal adhesion	protein binding			ovary(4)	4														0.272727	29.274393	31.328022	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47384613	47384613	16885	7	C	G	G	G	311	24	TNS3	3	3
ZNF713	349075	broad.mit.edu	37	7	56006849	56006849	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56006849A>G	uc003tra.1	+	c.482A>G	c.(481-483)AAG>AGG	p.K161R	MRPS17_uc003trb.2_Intron|ZNF713_uc003trc.1_Missense_Mutation_p.K148R	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.176471	29.257387	35.965175	12	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56006849	56006849	18713	7	A	G	G	G	39	3	ZNF713	4	4
PCLO	27445	broad.mit.edu	37	7	82764767	82764767	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82764767G>A	uc003uhx.2	-	c.2099C>T	c.(2098-2100)CCT>CTT	p.P700L	PCLO_uc003uhv.2_Missense_Mutation_p.P700L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	646	Pro-rich.				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														0.25641	54.962572	59.159432	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82764767	82764767	12003	7	G	A	A	A	455	35	PCLO	2	2
SEMA3E	9723	broad.mit.edu	37	7	82997074	82997074	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82997074T>C	uc003uhy.1	-	c.2156A>G	c.(2155-2157)TAT>TGT	p.Y719C		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	719					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)												0.257485	121.453217	130.35098	43	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82997074	82997074	14514	7	T	C	C	C	637	49	SEMA3E	4	4
SEMA3D	223117	broad.mit.edu	37	7	84751073	84751073	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84751073G>T	uc003uic.2	-	c.135C>A	c.(133-135)CTC>CTA	p.L45L	SEMA3D_uc010led.2_Silent_p.L45L|SEMA3D_uc010lee.1_Silent_p.L45L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	45	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.454545	30.045994	30.085754	10	12	KEEP	---	---	---	---	capture		Silent	SNP	84751073	84751073	14513	7	G	T	T	T	574	45	SEMA3D	2	2
LMTK2	22853	broad.mit.edu	37	7	97822452	97822452	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97822452A>G	uc003upd.1	+	c.2675A>G	c.(2674-2676)GAG>GGG	p.E892G		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	892					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.290323	24.263043	25.484051	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97822452	97822452	9188	7	A	G	G	G	143	11	LMTK2	4	4
UBR5	51366	broad.mit.edu	37	8	103338891	103338891	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103338891C>A	uc003ykr.1	-	c.1482G>T	c.(1480-1482)TGG>TGT	p.W494C	UBR5_uc003yks.1_Missense_Mutation_p.W494C	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	494					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(5)|ovary(3)|large_intestine(3)|kidney(1)|central_nervous_system(1)	13	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			Ovarian(131;96 1741 5634 7352 27489)				1024				0.136364	12.929499	21.381243	9	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103338891	103338891	17463	8	C	A	A	A	286	22	UBR5	2	2
RP1L1	94137	broad.mit.edu	37	8	10469930	10469930	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10469930T>A	uc003wtc.2	-	c.1678A>T	c.(1678-1680)AGG>TGG	p.R560W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	560					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.384615	14.971918	15.12367	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10469930	10469930	14012	8	T	A	A	A	726	56	RP1L1	3	3
ANGPT1	284	broad.mit.edu	37	8	108315503	108315503	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108315503T>A	uc003ymn.2	-	c.901A>T	c.(901-903)ACT>TCT	p.T301S	ANGPT1_uc011lhv.1_Missense_Mutation_p.T101S|ANGPT1_uc003ymo.2_Missense_Mutation_p.T300S|ANGPT1_uc003ymp.3_Missense_Mutation_p.T100S	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	301	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.112676	9.552678	20.064956	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108315503	108315503	613	8	T	A	A	A	767	59	ANGPT1	3	3
TRPS1	7227	broad.mit.edu	37	8	116427152	116427152	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116427152C>A	uc003yny.2	-	c.2984G>T	c.(2983-2985)AGG>ATG	p.R995M	TRPS1_uc011lhy.1_Missense_Mutation_p.R986M|TRPS1_uc010mcy.2_Missense_Mutation_p.R982M|TRPS1_uc003ynz.2_Missense_Mutation_p.R982M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	982					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.23	55.370794	62.05536	23	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116427152	116427152	17144	8	C	A	A	A	312	24	TRPS1	2	2
DLC1	10395	broad.mit.edu	37	8	12943415	12943415	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:12943415T>A	uc003wwm.2	-	c.4492A>T	c.(4492-4494)AAA>TAA	p.K1498*	DLC1_uc003wwk.1_Nonsense_Mutation_p.K1061*|DLC1_uc003wwl.1_Nonsense_Mutation_p.K1095*|DLC1_uc011kxx.1_Nonsense_Mutation_p.K987*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1498	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.325	36.271774	37.353332	13	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12943415	12943415	4730	8	T	A	A	A	832	64	DLC1	5	3
LRRC6	23639	broad.mit.edu	37	8	133596010	133596010	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133596010G>A	uc003ytk.2	-	c.1157C>T	c.(1156-1158)ACA>ATA	p.T386I	LRRC6_uc003ytl.2_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	386	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.206897	25.365518	29.986115	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133596010	133596010	9391	8	G	A	A	A	624	48	LRRC6	2	2
WISP1	8840	broad.mit.edu	37	8	134237689	134237689	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134237689T>A	uc003yub.2	+	c.667T>A	c.(667-669)TGG>AGG	p.W223R	WISP1_uc003yuc.2_Missense_Mutation_p.W136R|WISP1_uc010meb.2_Missense_Mutation_p.W51R|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	223	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.105263	9.890677	24.594592	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134237689	134237689	17946	8	T	A	A	A	715	55	WISP1	3	3
PLEC	5339	broad.mit.edu	37	8	144993934	144993934	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144993934T>G	uc003zaf.1	-	c.10466A>C	c.(10465-10467)CAG>CCG	p.Q3489P	PLEC_uc003zab.1_Missense_Mutation_p.Q3352P|PLEC_uc003zac.1_Missense_Mutation_p.Q3356P|PLEC_uc003zad.2_Missense_Mutation_p.Q3352P|PLEC_uc003zae.1_Missense_Mutation_p.Q3320P|PLEC_uc003zag.1_Missense_Mutation_p.Q3330P|PLEC_uc003zah.2_Missense_Mutation_p.Q3338P|PLEC_uc003zaj.2_Missense_Mutation_p.Q3379P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3489	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.333333	9.656203	10.144745	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144993934	144993934	12478	8	T	G	G	G	715	55	PLEC	4	4
ANK1	286	broad.mit.edu	37	8	41547754	41547754	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41547754G>T	uc003xom.2	-	c.4218C>A	c.(4216-4218)CCC>CCA	p.P1406P	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.P681P|ANK1_uc003xoi.2_Silent_p.P1365P|ANK1_uc003xoj.2_Silent_p.P1365P|ANK1_uc003xok.2_Silent_p.P1365P|ANK1_uc003xol.2_Silent_p.P1365P	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1365					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.114286	4.377724	9.509268	4	31	KEEP	---	---	---	---	capture		Silent	SNP	41547754	41547754	623	8	G	T	T	T	444	35	ANK1	2	2
RRS1	23212	broad.mit.edu	37	8	67341476	67341476	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67341476G>A	uc003xwa.2	+	c.110G>A	c.(109-111)GGC>GAC	p.G37D		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	37					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)									OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3	7.52091	7.878425	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67341476	67341476	14172	8	G	A	A	A	546	42	RRS1	2	2
PALM2-AKAP2	445815	broad.mit.edu	37	9	112642844	112642844	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112642844G>A	uc004bei.2	+	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	PALM2_uc004bef.2_Missense_Mutation_p.R49Q|PALM2_uc004beg.2_Missense_Mutation_p.R49Q|PALM2_uc004beh.3_Missense_Mutation_p.R47Q|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R47Q|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R47Q|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)	5														0.073529	-1.972878	10.73402	5	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112642844	112642844	11826	9	G	A	A	A	507	39	PALM2-AKAP2	1	1
KIAA1958	158405	broad.mit.edu	37	9	115337206	115337206	+	Silent	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115337206G>A	uc011lwx.1	+	c.846G>A	c.(844-846)CAG>CAA	p.Q282Q	KIAA1958_uc004bgf.1_Silent_p.Q282Q	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	282											0														0.116564	44.302221	91.515508	38	288	KEEP	---	---	---	---	capture		Silent	SNP	115337206	115337206	8575	9	G	A	A	A	425	33	KIAA1958	2	2
OR1J2	26740	broad.mit.edu	37	9	125274018	125274019	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125274018_125274019GG>TT	uc004bmj.1	+	c.938_939GG>TT	c.(937-939)TGG>TTT	p.W313F	OR1J2_uc011lyv.1_Missense_Mutation_p.W313F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|breast(1)|skin(1)	3														0.333333	45.71078	46.817418	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	125274018	125274019	11366	9	GG	TT	TT	TT	611	47	OR1J2	2	2
GLE1	2733	broad.mit.edu	37	9	131285001	131285001	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131285001G>C	uc004bvj.2	+	c.487G>C	c.(487-489)GAG>CAG	p.E163Q	GLE1_uc004bvi.2_Missense_Mutation_p.E163Q|GLE1_uc010myd.2_Intron	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	163	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0														0.129032	5.880576	10.035253	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131285001	131285001	6703	9	G	C	C	C	533	41	GLE1	3	3
GLE1	2733	broad.mit.edu	37	9	131285584	131285584	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131285584G>A	uc004bvj.2	+	c.607G>A	c.(607-609)GAG>AAG	p.E203K	GLE1_uc004bvi.2_Missense_Mutation_p.E203K|GLE1_uc010myd.2_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	203	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0														0.075269	-2.148263	15.078472	7	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131285584	131285584	6703	9	G	A	A	A	429	33	GLE1	2	2
C9orf50	375759	broad.mit.edu	37	9	132375845	132375845	+	Silent	SNP	G	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132375845G>T	uc004byc.3	-	c.912C>A	c.(910-912)GCC>GCA	p.A304A	C9orf50_uc004byb.3_Non-coding_Transcript	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	304										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)												0.615385	50.700473	51.003335	16	10	KEEP	---	---	---	---	capture		Silent	SNP	132375845	132375845	2602	9	G	T	T	T	496	39	C9orf50	1	1
KLHL9	55958	broad.mit.edu	37	9	21334680	21334680	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21334680T>C	uc003zoy.2	-	c.179A>G	c.(178-180)GAT>GGT	p.D60G	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	60	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)	3				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)										0.072289	-0.511843	15.111032	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21334680	21334680	8710	9	T	C	C	C	650	50	KLHL9	4	4
KIAA2026	158358	broad.mit.edu	37	9	5921211	5921211	+	Silent	SNP	T	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5921211T>C	uc003zjq.3	-	c.4785A>G	c.(4783-4785)TCA>TCG	p.S1595S	KIAA2026_uc010mht.2_Silent_p.S770S	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1595										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.397059	84.211852	84.841961	27	41	KEEP	---	---	---	---	capture		Silent	SNP	5921211	5921211	8581	9	T	C	C	C	808	63	KIAA2026	4	4
DAPK1	1612	broad.mit.edu	37	9	90321137	90321137	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90321137G>A	uc004apc.2	+	c.3151G>A	c.(3151-3153)GTG>ATG	p.V1051M	DAPK1_uc004apd.2_Missense_Mutation_p.V1051M|DAPK1_uc011ltg.1_Missense_Mutation_p.V985M|DAPK1_uc011lth.1_Missense_Mutation_p.V788M|DAPK1_uc004apg.2_Missense_Mutation_p.V28M	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1051					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade|protein phosphorylation	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2									p.V1051M(CW2-Tumor)	862				0.096774	1.328888	6.356901	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90321137	90321137	4402	9	G	A	A	A	520	40	DAPK1	1	1
FGD3	89846	broad.mit.edu	37	9	95768376	95768376	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95768376G>A	uc004asw.2	+	c.751G>A	c.(751-753)GTC>ATC	p.V251I	FGD3_uc004asx.2_Missense_Mutation_p.V251I|FGD3_uc004asz.2_Missense_Mutation_p.V251I|FGD3_uc004ata.2_Missense_Mutation_p.V54I	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	251	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.1	2.677848	9.064696	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95768376	95768376	6071	9	G	A	A	A	624	48	FGD3	2	2
ARMCX3	51566	broad.mit.edu	37	X	100880148	100880148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100880148G>A	uc004ehz.1	+	c.179G>A	c.(178-180)TGG>TAG	p.W60*	ARMCX3_uc004eia.1_Nonsense_Mutation_p.W60*|ARMCX3_uc004eib.1_Nonsense_Mutation_p.W60*|ARMCX3_uc004eic.1_Nonsense_Mutation_p.W60*	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	60						integral to membrane	binding			ovary(1)|lung(1)	2														0.034921	-51.696029	22.353528	11	304	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100880148	100880148	979	23	G	A	A	A	611	47	ARMCX3	5	2
AMELX	265	broad.mit.edu	37	X	11316225	11316225	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11316225C>G	uc004cus.2	+	c.105C>G	c.(103-105)AAC>AAG	p.N35K	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.2_Intron|AMELX_uc004cuu.2_Intron	NM_182680	NP_872621	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 3 precursor	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	extracellular matrix part|proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel				0														0.053333	-13.414062	18.16904	8	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11316225	11316225	572	23	C	G	G	G	259	20	AMELX	3	3
GPR112	139378	broad.mit.edu	37	X	135429739	135429739	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135429739C>T	uc004ezu.1	+	c.3874C>T	c.(3874-3876)CCA>TCA	p.P1292S	GPR112_uc010nsb.1_Missense_Mutation_p.P1087S|GPR112_uc010nsc.1_Missense_Mutation_p.P1059S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1292	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				0.385417	108.852253	109.957119	37	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135429739	135429739	6903	23	C	T	T	T	390	30	GPR112	2	2
F8	2157	broad.mit.edu	37	X	154156922	154156922	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154156922G>A	uc004fmt.2	-	c.5143C>T	c.(5143-5145)CGA>TGA	p.R1715*		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.R1715*(2)		ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.083333	0.332271	10.91681	5	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	154156922	154156922	5544	23	G	A	A	A	519	40	F8	5	1
ARSF	416	broad.mit.edu	37	X	3028172	3028172	+	Silent	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3028172C>A	uc004cre.1	+	c.1269C>A	c.(1267-1269)GTC>GTA	p.V423V	ARSF_uc004crf.1_Silent_p.V423V	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	423						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.368421	18.518726	18.80834	7	12	KEEP	---	---	---	---	capture		Silent	SNP	3028172	3028172	1009	23	C	A	A	A	366	29	ARSF	2	2
CFP	5199	broad.mit.edu	37	X	47489073	47489073	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47489073C>A	uc004dig.3	-	c.77G>T	c.(76-78)GGC>GTC	p.G26V	CFP_uc004dih.2_Missense_Mutation_p.G26V|CFP_uc004dii.1_5'UTR|CFP_uc010nhu.2_Missense_Mutation_p.G26V	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	26					complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3														0.714286	16.177485	16.465741	5	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47489073	47489073	3426	23	C	A	A	A	338	26	CFP	2	2
WAS	7454	broad.mit.edu	37	X	48549500	48549500	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48549500G>A	uc004dkm.3	+	c.1456G>A	c.(1456-1458)GAA>AAA	p.E486K		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	486	Asp/Glu-rich (acidic).				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)							p.E486K(JHOM2B-Tumor)	57				0.117647	5.080287	9.962249	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48549500	48549500	17823	23	G	A	A	A	481	37	WAS	1	1
PFKFB1	5207	broad.mit.edu	37	X	54978397	54978397	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54978397C>A	uc004dty.1	-	c.787G>T	c.(787-789)GAA>TAA	p.E263*	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Nonsense_Mutation_p.E198*	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	263	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.096774	1.403662	6.453691	3	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54978397	54978397	12182	23	C	A	A	A	377	29	PFKFB1	5	2
ATRX	546	broad.mit.edu	37	X	76854957	76854957	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76854957G>C	uc004ecp.3	-	c.5879C>G	c.(5878-5880)TCA>TGA	p.S1960*	ATRX_uc004ecq.3_Nonsense_Mutation_p.S1922*|ATRX_uc004eco.3_Nonsense_Mutation_p.S1745*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1960					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.038339	-46.262384	25.833772	12	301	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76854957	76854957	1227	23	G	C	C	C	585	45	ATRX	5	3
ATRX	546	broad.mit.edu	37	X	76920135	76920135	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:76920135C>A	uc004ecp.3	-	c.3942G>T	c.(3940-3942)GAG>GAT	p.E1314D	ATRX_uc004ecq.3_Missense_Mutation_p.E1276D|ATRX_uc004eco.3_Missense_Mutation_p.E1099D|ATRX_uc004ecr.2_Missense_Mutation_p.E1246D	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1314					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)					2				0.285714	43.676586	45.984224	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76920135	76920135	1227	23	C	A	A	A	311	24	ATRX	2	2
NCOR2	9612	broad.mit.edu	37	12	124846815	124846816	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124846815_124846816insG	uc010tay.1	-	c.2953_2954insC	c.(2953-2955)CGGfs	p.R985fs	NCOR2_uc010taz.1_Frame_Shift_Ins_p.R969fs|NCOR2_uc010tba.1_Frame_Shift_Ins_p.R986fs|NCOR2_uc010tbb.1_Frame_Shift_Ins_p.R986fs|NCOR2_uc010tbc.1_Frame_Shift_Ins_p.R968fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.R986fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	986					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	124846815	124846816	10635	12	-	G	G	G	299	23	NCOR2	5	5
RERE	473	broad.mit.edu	37	1	8418524	8418525	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8418524_8418525insG	uc001ape.2	-	c.4070_4071insC	c.(4069-4071)CCGfs	p.P1357fs	RERE_uc001apf.2_Frame_Shift_Ins_p.P1357fs|RERE_uc001apd.2_Frame_Shift_Ins_p.P803fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1357					multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	8418524	8418525	13700	1	-	G	G	G	392	31	RERE	5	5
C20orf112	140688	broad.mit.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31041555_31041556insG	uc002wxu.3	-	c.396_397insC	c.(394-399)CCCTACfs	p.P132fs	C20orf112_uc010gec.2_5'UTR	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	132_133											0														0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	31041555	31041556	2157	20	-	G	G	G	195	15	C20orf112	5	5
COL7A1	1294	broad.mit.edu	37	3	48608099	48608100	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48608099_48608100insA	uc003ctz.2	-	c.7316_7317insT	c.(7315-7317)CTGfs	p.L2439fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2439	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	48608099	48608100	3842	3	-	A	A	A	262	21	COL7A1	5	5
EPHA6	285220	broad.mit.edu	37	3	96706208	96706208	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z025-01	TCGA-17-Z025-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706208_96706208delG	uc010how.1	+	c.485_485delG	c.(484-486)AGGfs	p.R162fs	EPHA6_uc003drp.1_Frame_Shift_Del_p.R162fs	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	67	Ephrin-binding.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.32			29	62		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	96706208	96706208	5364	3	G	-	-	-	455	35	EPHA6	5	5
