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	i_TCGAscape_Amplification_Peaks	i_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_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
GAD2	2572	broad.mit.edu	36	10	26546814	26546814	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:26546814C>T	uc001isp.1	+	c.174C>T	c.(172-174)AGC>AGT	p.S58S	GAD2_uc001isq.1_Silent_p.S58S|GAD2_uc009xkr.1_Silent_p.S58S	NM_000818	NP_000809	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	58					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.761905	46.405735	47.72324	16	5	CC		KEEP	---	---	---	---	capture			Silent	SNP	26546814	26546814	6431	10	C	T	T	27	27	GAD2	T	1	1
OR4C16	219428	broad.mit.edu	36	11	55097060	55097060	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55097060G>A	uc001nhp.1	+	c.881G>A	c.(880-882)AGT>AAT	p.S294N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.469136	115.441298	115.508659	38	43	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55097060	55097060	11455	11	G	A	A	36	36	OR4C16	A	2	2
OR8H1	219469	broad.mit.edu	36	11	55814611	55814611	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55814611G>A	uc001nip.1	-	c.504C>T	c.(502-504)TGC>TGT	p.C168C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.393103	160.959861	162.404433	57	88	GG		KEEP	---	---	---	---	capture			Silent	SNP	55814611	55814611	11648	11	G	A	A	38	38	OR8H1	A	1	1
OSBP	5007	broad.mit.edu	36	11	59124585	59124585	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59124585T>C	uc001noc.1	-	c.1271A>G	c.(1270-1272)AAG>AGG	p.K424R	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	424	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)												0.435897	423.594576	424.57122	119	154	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	Missense_Mutation	SNP	59124585	59124585	11684	11	T	C	C	56	56	OSBP	C	4	4
CCDC63	160762	broad.mit.edu	36	12	109806386	109806386	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:109806386G>A	uc001trv.1	+	c.1023G>A	c.(1021-1023)ACG>ACA	p.T341T	CCDC63_uc001trw.1_Silent_p.T256T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	341	Potential.									ovary(1)|pancreas(1)	2														0.380531	134.499879	135.914029	43	70	GG		KEEP	---	---	---	---	capture			Silent	SNP	109806386	109806386	2957	12	G	A	A	39	39	CCDC63	A	1	1
RIMBP2	23504	broad.mit.edu	36	12	129500705	129500705	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129500705G>A	uc001uil.2	-	c.523C>T	c.(523-525)CGC>TGC	p.R175C	RIMBP2_uc001uim.2_Missense_Mutation_p.R83C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	175	SH3 1.					cell junction|synapse				ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)												0.4	52.849434	53.240093	18	27	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	Missense_Mutation	SNP	129500705	129500705	13838	12	G	A	A	39	39	RIMBP2	A	1	1
SLC38A4	55089	broad.mit.edu	36	12	45449442	45449442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:45449442G>A	uc001rpi.1	-	c.1336C>T	c.(1336-1338)CGA>TGA	p.R446*	SLC38A4_uc001rpj.1_Nonsense_Mutation_p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	446	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.192)|Renal(347;0.236)													0.418502	284.484414	285.800655	95	132	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	45449442	45449442	15103	12	G	A	A	40	40	SLC38A4	A	5	1
CLSTN3	9746	broad.mit.edu	36	12	7201429	7201429	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:7201429C>T	uc001qss.1	+	c.2641C>T	c.(2641-2643)CGC>TGC	p.R881C	CLSTN3_uc001qsr.1_Missense_Mutation_p.R869C|CLSTN3_uc001qst.1_Missense_Mutation_p.R277C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1														0.421053	43.193697	43.399951	16	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7201429	7201429	3701	12	C	T	T	27	27	CLSTN3	T	1	1
USPL1	10208	broad.mit.edu	36	13	30130152	30130152	+	Silent	SNP	A	G	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:30130152A>G	uc001utc.2	+	c.1938A>G	c.(1936-1938)CAA>CAG	p.Q646Q	USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	646					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(1)	1		Lung SC(185;0.0257)|Breast(139;0.203)				Ovarian(60;318 1180 1554 28110 31601)								0.365079	151.110976	153.13037	46	80	AA		KEEP	---	---	---	---	capture		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	Silent	SNP	30130152	30130152	17656	13	A	G	G	3	3	USPL1	G	4	4
EDDM3A	10876	broad.mit.edu	36	14	20285842	20285842	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20285842G>A	uc001vyb.1	+	c.263G>A	c.(262-264)CGA>CAA	p.R88Q	EDDM3A_uc001vyc.1_Missense_Mutation_p.R88Q|EDDM3A_uc010aia.1_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	human epididymis-specific 3 alpha precursor	88					sperm displacement	extracellular space					0														0.442105	128.845383	129.121213	42	53	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	20285842	20285842	5096	14	G	A	A	37	37	EDDM3A	A	1	1
MKRN3	7681	broad.mit.edu	36	15	21362132	21362132	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:21362132C>A	uc001ywh.2	+	c.110C>A	c.(109-111)CCC>CAC	p.P37H	MKRN3_uc010ayi.1_Missense_Mutation_p.P37H|MKRN3_uc001ywi.2_Missense_Mutation_p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	37						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)								79				0.392157	106.56238	107.605386	40	62	CC		KEEP	---	---	---	---	capture		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	Missense_Mutation	SNP	21362132	21362132	9998	15	C	A	A	22	22	MKRN3	A	3	3
TMOD2	29767	broad.mit.edu	36	15	49862312	49862312	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:49862312G>C	uc002abk.1	+	c.727G>C	c.(727-729)GCC>CCC	p.A243P	TMOD2_uc010bfb.1_Missense_Mutation_p.A199P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	243					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2														0.412955	355.60888	357.242736	102	145	GG		KEEP	---	---	---	---	capture		all cancers(107;0.00435)	Missense_Mutation	SNP	49862312	49862312	16774	15	G	C	C	42	42	TMOD2	C	3	3
FSD2	123722	broad.mit.edu	36	15	81252400	81252400	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:81252400T>C	uc002bjd.2	-	c.652A>G	c.(652-654)AAA>GAA	p.K218E		NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	218	Potential.									central_nervous_system(1)	1														0.459016	90.18865	90.27828	28	33	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	81252400	81252400	6322	15	T	C	C	63	63	FSD2	C	4	4
PCSK6	5046	broad.mit.edu	36	15	99671183	99671183	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99671183C>T	uc002bxa.1	-	c.2620G>A	c.(2620-2622)GAC>AAC	p.D874N	PCSK6_uc010bpd.1_Missense_Mutation_p.D670N|PCSK6_uc002bwy.1_Missense_Mutation_p.D874N|PCSK6_uc010bpe.1_Missense_Mutation_p.D861N|PCSK6_uc002bxb.1_Missense_Mutation_p.D861N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	874	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.430894	153.356221	153.867969	53	70	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99671183	99671183	12025	15	C	T	T	31	31	PCSK6	T	1	1
TPSB2	64499	broad.mit.edu	36	16	1219649	1219649	+	Missense_Mutation	SNP	C	T	T	rs1060281	by-frequency	TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:1219649C>T	uc002cky.1	-	c.152G>A	c.(151-153)CGC>CAC	p.R51H	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.1_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	tryptase beta 2 precursor	51	Peptidase S1.		HGP -> RDR (in beta-III).		proteolysis	extracellular region	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.38843	126.618037	127.929649	47	74	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1219649	1219649	16968	16	C	T	T	27	27	TPSB2	T	1	1
CNTNAP4	85445	broad.mit.edu	36	16	75018985	75018985	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:75018985G>A	uc002fex.1	+	c.535G>A	c.(535-537)GGA>AGA	p.G179R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G176R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	176	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.482759	186.694808	186.724848	56	60	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75018985	75018985	3787	16	G	A	A	39	39	CNTNAP4	A	1	1
SPATA2L	124044	broad.mit.edu	36	16	88291800	88291800	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88291800C>G	uc002foj.1	-	c.718G>C	c.(718-720)GCC>CCC	p.A240P	SPATA2L_uc002fok.1_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	240											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)												0.222222	6.475702	7.7728	4	14	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0272)	Missense_Mutation	SNP	88291800	88291800	15518	16	C	G	G	27	27	SPATA2L	G	3	3
DERL2	51009	broad.mit.edu	36	17	5330180	5330180	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:5330180T>C	uc002gcc.1	-	c.26A>G	c.(25-27)GAG>GGG	p.E9G	MIS12_uc002gcd.1_5'Flank|MIS12_uc002gce.1_5'Flank|MIS12_uc010clg.1_5'Flank	NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Der1-like domain family, member 2	9	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding				0														0.285714	8.363143	9.941738	10	25	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5330180	5330180	4626	17	T	C	C	54	54	DERL2	C	4	4
CILP2	148113	broad.mit.edu	36	19	19515993	19515993	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19515993G>A	uc002nmw.2	+	c.1657G>A	c.(1657-1659)GTG>ATG	p.V553M	CILP2_uc002nmv.2_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.411429	207.168075	208.366587	72	103	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19515993	19515993	3564	19	G	A	A	40	40	CILP2	A	1	1
ZFR2	23217	broad.mit.edu	36	19	3785818	3785818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:3785818G>A	uc002lyw.2	-	c.217C>T	c.(217-219)CGA>TGA	p.R73*		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	73						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.411765	38.341052	38.57249	14	20	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	Nonsense_Mutation	SNP	3785818	3785818	18250	19	G	A	A	39	39	ZFR2	A	5	1
NKPD1	284353	broad.mit.edu	36	19	50347987	50347987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50347987G>T	uc002pau.1	-	c.882C>A	c.(880-882)TAC>TAA	p.Y294*		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)												0.375	8.122967	8.232701	3	5	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	Nonsense_Mutation	SNP	50347987	50347987	10847	19	G	T	T	44	44	NKPD1	T	5	3
SIX5	147912	broad.mit.edu	36	19	50961069	50961069	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50961069C>G	uc002pdb.1	-	c.1750G>C	c.(1750-1752)GCC>CCC	p.A584P	SIX5_uc002pdc.1_Missense_Mutation_p.G315A	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	sine oculis homeobox homolog 5	584					regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)												0.272727	6.318706	6.832039	3	8	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	Missense_Mutation	SNP	50961069	50961069	14845	19	C	G	G	26	26	SIX5	G	3	3
ZNF701	55762	broad.mit.edu	36	19	57777798	57777798	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:57777798A>G	uc002pzs.1	+	c.674A>G	c.(673-675)AAT>AGT	p.N225S		NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						NSCLC(89;451 1475 9611 20673 52284)								0.327434	118.83047	121.817928	37	76	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	Missense_Mutation	SNP	57777798	57777798	18700	19	A	G	G	4	4	ZNF701	G	4	4
LILRB2	10288	broad.mit.edu	36	19	59474107	59474107	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59474107C>T	uc002qfb.1	-	c.1077G>A	c.(1075-1077)GCG>GCA	p.A359A	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.1_Silent_p.A359A|LILRB2_uc010erj.1_Non-coding_Transcript|LILRB2_uc002qfc.1_Silent_p.A359A	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	359	Extracellular (Potential).|Ig-like C2-type 4.				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)													0.386667	161.708714	163.398794	58	92	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.105)	Silent	SNP	59474107	59474107	9117	19	C	T	T	23	23	LILRB2	T	1	1
FLG	2312	broad.mit.edu	36	1	150548310	150548310	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150548310G>A	uc001ezu.1	-	c.5676C>T	c.(5674-5676)GCC>GCT	p.A1892A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1892	Ser-rich.|Filaggrin 11.				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)													0.202658	417.928316	491.996173	183	720	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150548310	150548310	6160	1	G	A	A	39	39	FLG	A	1	1
LELP1	149018	broad.mit.edu	36	1	151443931	151443931	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:151443931C>T	uc001fbl.1	+	c.124C>T	c.(124-126)CGC>TGC	p.R42C	LELP1_uc009woe.1_Missense_Mutation_p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.									ovary(1)	1	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.596667	554.86264	557.31202	179	121	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.171)		Missense_Mutation	SNP	151443931	151443931	9042	1	C	T	T	19	19	LELP1	T	1	1
NUP210L	91181	broad.mit.edu	36	1	152334072	152334072	+	Missense_Mutation	SNP	T	C	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152334072T>C	uc001fdw.1	-	c.2150A>G	c.(2149-2151)TAC>TGC	p.Y717C	NUP210L_uc009woq.1_5'UTR	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	717						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)													0.554687	251.709277	252.040578	71	57	TT		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		Missense_Mutation	SNP	152334072	152334072	11166	1	T	C	C	57	57	NUP210L	C	4	4
ANGEL2	90806	broad.mit.edu	36	1	211248379	211248379	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:211248379C>T	uc001hjz.1	-	c.438G>A	c.(436-438)ACG>ACA	p.T146T	ANGEL2_uc001hka.1_5'UTR|ANGEL2_uc001hkb.1_Silent_p.T124T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	146											0														0.587963	407.254127	408.712893	127	89	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	Silent	SNP	211248379	211248379	612	1	C	T	T	31	31	ANGEL2	T	1	1
OBSCN	84033	broad.mit.edu	36	1	226624372	226624372	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226624372G>A	uc009xez.1	+	c.20074G>A	c.(20074-20076)GAA>AAA	p.E6692K	OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6692	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.299539	172.400356	180.186806	65	152	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226624372	226624372	11217	1	G	A	A	37	37	OBSCN	A	1	1
MATN4	8785	broad.mit.edu	36	20	43366587	43366587	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43366587G>A	uc002xnn.1	-	c.338C>T	c.(337-339)ACG>ATG	p.T113M	MATN4_uc002xno.1_Missense_Mutation_p.T113M|MATN4_uc002xnp.1_Missense_Mutation_p.T113M|MATN4_uc002xnq.1_Missense_Mutation_p.T113M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.1_5'Flank|RBPJL_uc002xnt.1_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	113	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)												0.342105	36.66558	37.501636	13	25	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43366587	43366587	9720	20	G	A	A	40	40	MATN4	A	1	1
C20orf43	51507	broad.mit.edu	36	20	54526650	54526650	+	Silent	SNP	C	G	G			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54526650C>G	uc002xxt.2	+	c.843C>G	c.(841-843)CTC>CTG	p.L281L	C20orf43_uc002xxu.2_Silent_p.L280L|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc002xxw.2_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	281										ovary(1)	1														0.384615	284.696055	287.284109	85	136	CC		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Silent	SNP	54526650	54526650	2192	20	C	G	G	32	32	C20orf43	G	3	3
IFNAR2	3455	broad.mit.edu	36	21	33546964	33546964	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33546964C>T	uc002yrd.1	+	c.668C>T	c.(667-669)TCT>TTT	p.S223F	IFNAR2_uc002yrb.1_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.1_Missense_Mutation_p.S223F|IFNAR2_uc002yre.1_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.1_Missense_Mutation_p.S223F|IFNAR2_uc002yrg.1_Missense_Mutation_p.S92F|IL10RB_uc002yrh.1_Missense_Mutation_p.S73F|IL10RB_uc002yri.1_5'UTR	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	223	Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)									0.356589	138.615751	140.952125	46	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33546964	33546964	7846	21	C	T	T	32	32	IFNAR2	T	2	2
TRPM2	7226	broad.mit.edu	36	21	44683471	44683471	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44683471G>A	uc010gpt.1	+	c.4411G>A	c.(4411-4413)GGC>AGC	p.G1471S	TRPM2_uc002zet.1_Missense_Mutation_p.G1421S|TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1421	Nudix hydrolase.|Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.337209	85.751738	87.765963	29	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44683471	44683471	17137	21	G	A	A	39	39	TRPM2	A	1	1
C21orf29	54084	broad.mit.edu	36	21	44772839	44772839	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:44772839G>A	uc002zfe.1	-	c.846C>T	c.(844-846)GAC>GAT	p.D282D	C21orf29_uc010gpv.1_Silent_p.D214D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29	282					cell adhesion	extracellular region	structural molecule activity				0														0.388535	162.140051	163.845721	61	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	44772839	44772839	2204	21	G	A	A	40	40	C21orf29	A	1	1
ZNF280B	140883	broad.mit.edu	36	22	21172526	21172526	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:21172526C>T	uc002zwc.1	-	c.1198G>A	c.(1198-1200)GAA>AAA	p.E400K	ZNF280B_uc010gtp.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)												0.416667	339.071768	340.744054	115	161	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.145)	Missense_Mutation	SNP	21172526	21172526	18407	22	C	T	T	31	31	ZNF280B	T	1	1
MFSD9	84804	broad.mit.edu	36	2	102702032	102702032	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102702032C>T	uc002tcb.1	-	c.704G>A	c.(703-705)CGA>CAA	p.R235Q	MFSD9_uc010fja.1_Non-coding_Transcript	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	235					response to antibiotic	integral to membrane	tetracycline:hydrogen antiporter activity			ovary(2)|breast(2)	4														0.424138	362.354434	363.790203	123	167	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102702032	102702032	9929	2	C	T	T	31	31	MFSD9	T	1	1
SLC5A7	60482	broad.mit.edu	36	2	107993312	107993312	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:107993312G>A	uc002tdv.1	+	c.1306G>A	c.(1306-1308)GTG>ATG	p.V436M	SLC5A7_uc010fjj.1_Missense_Mutation_p.V436M|SLC5A7_uc010fjk.1_Non-coding_Transcript	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	436	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.419355	227.116739	228.172449	78	108	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107993312	107993312	15167	2	G	A	A	40	40	SLC5A7	A	1	1
ZRANB3	84083	broad.mit.edu	36	2	135674478	135674478	+	Silent	SNP	T	C	C			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:135674478T>C	uc002tum.1	-	c.3144A>G	c.(3142-3144)AGA>AGG	p.R1048R	ZRANB3_uc002tuk.1_Silent_p.R591R|ZRANB3_uc002tul.1_Silent_p.R1046R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1048						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding				0														0.5	48.698869	48.698869	15	15	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.135)	Silent	SNP	135674478	135674478	18828	2	T	C	C	62	62	ZRANB3	C	4	4
CWC22	57703	broad.mit.edu	36	2	180518515	180518515	+	Silent	SNP	A	G	G			TCGA-76-4932-01	TCGA-76-4932-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:180518515A>G	uc010frh.1	-	c.2313T>C	c.(2311-2313)AAT>AAC	p.N771N	CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	771					nuclear mRNA splicing, via spliceosome|regulation of nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding				0														0.372937	382.409984	386.702285	113	190	AA		KEEP	---	---	---	---	capture			Silent	SNP	180518515	180518515	4228	2	A	G	G	4	4	CWC22	G	4	4
PAX3	5077	broad.mit.edu	36	2	222870043	222870043	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222870043C>T	uc002vmt.1	-	c.219G>A	c.(217-219)TCG>TCA	p.S73S	PAX3_uc002vmy.1_Silent_p.S73S|PAX3_uc002vmv.1_Silent_p.S73S|PAX3_uc002vmw.1_Silent_p.S73S|PAX3_uc002vmx.1_Silent_p.S73S|PAX3_uc010fwo.1_Silent_p.S73S|PAX3_uc002vmz.1_Silent_p.S73S|PAX3_uc002vna.1_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	73	Paired.		S -> L (in WS1).		apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)								141				0.414634	50.570787	50.830727	17	24	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Silent	SNP	222870043	222870043	11900	2	C	T	T	27	27	PAX3	T	1	1
COL4A4	1286	broad.mit.edu	36	2	227630428	227630428	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227630428G>A	uc010fxd.1	-	c.2516C>T	c.(2515-2517)CCG>CTG	p.P839L	COL4A4_uc010fxe.1_Missense_Mutation_p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	839	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|breast(1)|pancreas(1)	10		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)												0.205128	17.38162	20.525434	8	31	GG		KEEP	---	---	---	---	capture		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	Missense_Mutation	SNP	227630428	227630428	3831	2	G	A	A	39	39	COL4A4	A	1	1
ADRA2B	151	broad.mit.edu	36	2	96144377	96144377	+	Nonsense_Mutation	SNP	G	T	T			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96144377G>T	uc002svi.1	-	c.1248C>A	c.(1246-1248)TAC>TAA	p.Y416*		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	416	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)									0.285714	10.293673	10.870919	4	10	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	96144377	96144377	339	2	G	T	T	36	36	ADRA2B	T	5	3
CHST13	166012	broad.mit.edu	36	3	127743452	127743452	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:127743452G>A	uc003eja.1	+	c.367G>A	c.(367-369)GTG>ATG	p.V123M		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase	123	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1														0.529412	25.063548	25.075651	9	8	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.151)	Missense_Mutation	SNP	127743452	127743452	3535	3	G	A	A	40	40	CHST13	A	1	1
ECE2	9718	broad.mit.edu	36	3	185492554	185492554	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:185492554C>T	uc003fni.2	+	c.2486C>T	c.(2485-2487)TCG>TTG	p.S829L	ECE2_uc003fnl.2_Missense_Mutation_p.S757L|ECE2_uc003fnm.2_Missense_Mutation_p.S711L|ECE2_uc003fnk.2_Missense_Mutation_p.S682L	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	829	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)													0.54717	269.140081	269.44911	87	72	CC		KEEP	---	---	---	---	capture	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Missense_Mutation	SNP	185492554	185492554	5077	3	C	T	T	31	31	ECE2	T	1	1
CNTN4	152330	broad.mit.edu	36	3	2762313	2762313	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:2762313C>T	uc003bpc.1	+	c.290C>T	c.(289-291)ACG>ATG	p.T97M	CNTN4_uc003bpb.1_De_novo_Start_OutOfFrame|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	97	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)												0.398876	207.878748	209.47326	71	107	CC		KEEP	---	---	---	---	capture		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	Missense_Mutation	SNP	2762313	2762313	3781	3	C	T	T	19	19	CNTN4	T	1	1
DOK7	285489	broad.mit.edu	36	4	3464789	3464789	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3464789C>T	uc003ghd.1	+	c.1278C>T	c.(1276-1278)CCC>CCT	p.P426P	DOK7_uc003ghe.1_Silent_p.P288P|DOK7_uc003ghf.1_Missense_Mutation_p.P168L|DOK7_uc003ghg.1_Silent_p.P116P	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7	426						cell junction|synapse	insulin receptor binding				0														0.342105	36.520958	37.331055	13	25	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Silent	SNP	3464789	3464789	4886	4	C	T	T	23	23	DOK7	T	1	1
AASDH	132949	broad.mit.edu	36	4	56932404	56932404	+	Silent	SNP	G	C	C			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:56932404G>C	uc003hbn.1	-	c.831C>G	c.(829-831)CTC>CTG	p.L277L	AASDH_uc010ihb.1_5'UTR|AASDH_uc003hbo.1_Silent_p.L177L|AASDH_uc010ihc.1_Silent_p.L277L|AASDH_uc003hbp.2_Silent_p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	277					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)												0.206612	70.504755	80.158851	25	96	GG		KEEP	---	---	---	---	capture			Silent	SNP	56932404	56932404	23	4	G	C	C	33	33	AASDH	C	3	3
PDE6B	5158	broad.mit.edu	36	4	609767	609767	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:609767G>A	uc003gap.1	+	c.352G>A	c.(352-354)GTC>ATC	p.V118I	PDE6B_uc003gao.2_Missense_Mutation_p.V118I	NM_000283	NP_000274	P35913	PDE6B_HUMAN	rod cGMP-phosphodiesterase beta-subunit isoform	118	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.571429	24.100851	24.163045	8	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	609767	609767	12067	4	G	A	A	40	40	PDE6B	A	1	1
TNFAIP8	25816	broad.mit.edu	36	5	118756579	118756579	+	Missense_Mutation	SNP	G	T	T			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:118756579G>T	uc003ksh.1	+	c.201G>T	c.(199-201)GAG>GAT	p.E67D	TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.1_Missense_Mutation_p.E57D|TNFAIP8_uc003ksi.1_Missense_Mutation_p.E67D	NM_014350	NP_055165	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	67	Potential.				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)												0.45	51.842994	51.93036	18	22	GG		KEEP	---	---	---	---	capture		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	Missense_Mutation	SNP	118756579	118756579	16817	5	G	T	T	35	35	TNFAIP8	T	3	3
PCDHA1	56147	broad.mit.edu	36	5	140147303	140147303	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140147303G>A	uc003lhb.1	+	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	PCDHA1_uc003lha.1_Missense_Mutation_p.R415H|PCDHA1_uc003lgz.1_Missense_Mutation_p.R415H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0														0.413534	310.547035	312.268894	110	156	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140147303	140147303	11939	5	G	A	A	38	38	PCDHA1	A	1	1
PRDM9	56979	broad.mit.edu	36	5	23563187	23563187	+	Nonsense_Mutation	SNP	G	T	T			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:23563187G>T	uc003jgo.1	+	c.2233G>T	c.(2233-2235)GAG>TAG	p.E745*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	745					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														0.320856	133.269677	138.637051	60	127	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	23563187	23563187	12906	5	G	T	T	41	41	PRDM9	T	5	3
KIAA1244	57221	broad.mit.edu	36	6	138641435	138641435	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:138641435G>A	uc003qhu.2	+	c.2283G>A	c.(2281-2283)GCG>GCA	p.A761A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	761	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)													0.486957	156.8937	156.910468	56	59	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	Silent	SNP	138641435	138641435	8526	6	G	A	A	38	38	KIAA1244	A	1	1
DEFB110	245913	broad.mit.edu	36	6	50084816	50084816	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:50084816G>A	uc003pab.1	-	c.183C>T	c.(181-183)TGC>TGT	p.C61C		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	beta-defensin 110	64					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)													0.434109	169.183419	169.671068	56	73	GG		KEEP	---	---	---	---	capture			Silent	SNP	50084816	50084816	4577	6	G	A	A	38	38	DEFB110	A	1	1
ZYX	7791	broad.mit.edu	36	7	142790374	142790374	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142790374G>A	uc003wcw.1	+	c.860G>A	c.(859-861)GGA>GAA	p.G287E	ZYX_uc003wcx.1_Missense_Mutation_p.G287E|ZYX_uc003wcy.1_5'UTR	NM_001010972	NP_003452	Q15942	ZYX_HUMAN	zyxin	287					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)													0.32567	462.318894	476.369161	170	352	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142790374	142790374	18860	7	G	A	A	41	41	ZYX	A	2	2
EPHA1	2041	broad.mit.edu	36	7	142805276	142805276	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142805276G>A	uc003wcz.1	-	c.1474C>T	c.(1474-1476)CGG>TGG	p.R492W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1	492	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)							p.R492W(HEC151-Tumor)	379				0.25	89.12539	97.522285	37	111	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142805276	142805276	5358	7	G	A	A	40	40	EPHA1	A	1	1
ASB10	136371	broad.mit.edu	36	7	150509288	150509288	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150509288G>A	uc003wjm.1	-	c.910C>T	c.(910-912)CGC>TGC	p.R304C	ASB10_uc003wjl.1_Missense_Mutation_p.R259C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	NM_080871	NP_543147	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	259	ANK 5.				intracellular signal transduction						0														0.194444	28.784326	35.006461	14	58	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150509288	150509288	1032	7	G	A	A	39	39	ASB10	A	1	1
IGFBP3	3486	broad.mit.edu	36	7	45923397	45923397	+	Silent	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:45923397G>A	uc003tnr.1	-	c.588C>T	c.(586-588)TAC>TAT	p.Y196Y	IGFBP3_uc003tnq.1_Non-coding_Transcript|IGFBP3_uc003tns.1_Silent_p.Y190Y|IGFBP3_uc003tnt.1_Silent_p.Y93Y	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	190					negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	insulin-like growth factor binding protein complex|nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(2)	2					Mecasermin(DB01277)							OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.32439	363.831386	375.054143	133	277	GG		KEEP	---	---	---	---	capture			Silent	SNP	45923397	45923397	7881	7	G	A	A	40	40	IGFBP3	A	1	1
TFPI2	7980	broad.mit.edu	36	7	93357392	93357392	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:93357392C>T	uc003unb.1	-	c.264G>A	c.(262-264)AGG>AGA	p.R88R	GNGT1_uc003umx.1_Intron|TFPI2_uc003umy.1_Silent_p.R88R|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	88					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)													0.311927	90.004714	93.440755	34	75	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000967)		Silent	SNP	93357392	93357392	16337	7	C	T	T	30	30	TFPI2	T	2	2
PEG10	23089	broad.mit.edu	36	7	94131309	94131309	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94131309C>T	uc003uno.1	+	c.505C>T	c.(505-507)CGC>TGC	p.R169C		NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1/2	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)													0.275862	406.060675	432.289344	160	420	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94131309	94131309	12140	7	C	T	T	19	19	PEG10	T	1	1
PEG10	23089	broad.mit.edu	36	7	94131649	94131649	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:94131649C>T	uc003uno.1	+	c.845C>T	c.(844-846)ACG>ATG	p.T282M		NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1/2	282					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)													0.444444	35.195626	35.268318	12	15	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0031)		Missense_Mutation	SNP	94131649	94131649	12140	7	C	T	T	19	19	PEG10	T	1	1
CPSF1	29894	broad.mit.edu	36	8	145593517	145593517	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4932-01	TCGA-76-4932-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145593517G>A	uc003zcj.1	-	c.2378C>T	c.(2377-2379)ACC>ATC	p.T793I		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	793					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)					NSCLC(133;1088 1848 27708 34777 35269)								0.390244	48.191278	48.623755	16	25	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		Missense_Mutation	SNP	145593517	145593517	3962	8	G	A	A	44	44	CPSF1	A	2	2
DOCK5	80005	broad.mit.edu	36	8	25306230	25306230	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25306230C>T	uc003xeg.1	+	c.4442C>T	c.(4441-4443)ACG>ATG	p.T1481M	PPP2R2A_uc003xek.1_Intron|DOCK5_uc003xei.1_Missense_Mutation_p.T1051M|DOCK5_uc003xej.1_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1481	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.4375	41.145077	41.254059	14	18	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Missense_Mutation	SNP	25306230	25306230	4874	8	C	T	T	19	19	DOCK5	T	1	1
NPR2	4882	broad.mit.edu	36	9	35798664	35798664	+	Silent	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35798664C>T	uc003zyd.1	+	c.2871C>T	c.(2869-2871)CGC>CGT	p.R957R	NPR2_uc010mlb.1_Silent_p.R933R|SPAG8_uc003zye.1_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	957	Guanylate cyclase.|Cytoplasmic (Potential).		R -> C (in AMDM).		intracellular signal transduction|ossification|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(2)	2	all_epithelial(49;0.161)				Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)					170				0.35625	149.719861	152.636742	57	103	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Silent	SNP	35798664	35798664	11000	9	C	T	T	25	25	NPR2	T	2	2
MORC4	79710	broad.mit.edu	36	X	106108014	106108014	+	Missense_Mutation	SNP	A	T	T			TCGA-76-4932-01	TCGA-76-4932-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:106108014A>T	uc004emu.2	-	c.1008T>A	c.(1006-1008)CAT>CAA	p.H336Q	MORC4_uc004emp.2_Intron|MORC4_uc004emv.2_Missense_Mutation_p.H336Q|MORC4_uc004emw.2_Missense_Mutation_p.H84Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	336							ATP binding|zinc ion binding			ovary(1)	1														0.430288	562.584707	564.341044	179	237	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	106108014	106108014	10095	23	A	T	T	16	16	MORC4	T	4	4
THOC2	57187	broad.mit.edu	36	X	122584294	122584294	+	Missense_Mutation	SNP	T	A	A			TCGA-76-4932-01	TCGA-76-4932-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:122584294T>A	uc004etu.1	-	c.3781A>T	c.(3781-3783)AAC>TAC	p.N1261Y	THOC2_uc004ett.1_Missense_Mutation_p.N1146Y|THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2 isoform 1	1261					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3														0.422222	163.566474	164.274969	57	78	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122584294	122584294	16393	23	T	A	A	61	61	THOC2	A	4	4
GLRA2	2742	broad.mit.edu	36	X	14509419	14509419	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4932-01	TCGA-76-4932-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:14509419C>T	uc010nep.1	+	c.464C>T	c.(463-465)TCG>TTG	p.S155L	GLRA2_uc010neq.1_Missense_Mutation_p.S155L|GLRA2_uc004cwe.2_Missense_Mutation_p.S155L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	155	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.418994	221.29596	222.320344	75	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14509419	14509419	6723	23	C	T	T	31	31	GLRA2	T	1	1
SRCAP	10847	broad.mit.edu	36	16	30656392	30656395	+	Frame_Shift_Del	DEL	TCAT	-	-			TCGA-76-4932-01	TCGA-76-4932-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30656392_30656395delTCAT	uc002dze.1	+	c.7530_7533delTCAT	c.(7528-7533)GCTCATfs	p.A2510fs	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2510_2511	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.38			53	88				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	30656392	30656395	15649	16	TCAT	-	-	54	54	SRCAP	-	5	5
