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
CCDC147	159686	broad.mit.edu	37	10	106152064	106152064	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106152064C>A	uc001kyh.2	+	c.1439C>A	c.(1438-1440)TCA>TAA	p.S480*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	480	Potential.									ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)										0.15	21.350057	30.744062	12	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106152064	106152064	2901	10	C	A	A	A	377	29	CCDC147	5	2
ATRNL1	26033	broad.mit.edu	37	10	117040882	117040882	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117040882C>A	uc001lcg.2	+	c.2118C>A	c.(2116-2118)ACC>ACA	p.T706T		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	706	PSI 2.|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)										0.212766	23.037703	26.612104	10	37	KEEP	---	---	---	---	capture		Silent	SNP	117040882	117040882	1226	10	C	A	A	A	262	21	ATRNL1	2	2
FAM171A1	221061	broad.mit.edu	37	10	15255941	15255941	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15255941T>A	uc001iob.2	-	c.1646A>T	c.(1645-1647)GAG>GTG	p.E549V		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	549	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)	3														0.235849	57.02649	63.792633	25	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15255941	15255941	5695	10	T	A	A	A	702	54	FAM171A1	3	3
CUBN	8029	broad.mit.edu	37	10	16942702	16942702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16942702G>A	uc001ioo.2	-	c.8332C>T	c.(8332-8334)CAG>TAG	p.Q2778*	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Nonsense_Mutation_p.Q134*	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2778	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.173333	25.749431	33.291347	13	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	16942702	16942702	4211	10	G	A	A	A	585	45	CUBN	5	2
CUBN	8029	broad.mit.edu	37	10	16949593	16949593	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16949593C>T	uc001ioo.2	-	c.7619G>A	c.(7618-7620)GGA>GAA	p.G2540E	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2540	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.214286	22.45393	25.618223	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16949593	16949593	4211	10	C	T	T	T	390	30	CUBN	2	2
MKX	283078	broad.mit.edu	37	10	28023610	28023610	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28023610C>G	uc001ity.3	-	c.613G>C	c.(613-615)GAG>CAG	p.E205Q	MKX_uc001itx.3_Missense_Mutation_p.E205Q	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	205					muscle organ development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.477778	142.707329	142.74653	43	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28023610	28023610	10000	10	C	G	G	G	416	32	MKX	3	3
OR13A1	79290	broad.mit.edu	37	10	45798999	45798999	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45798999A>T	uc001jcc.1	-	c.872T>A	c.(871-873)TTG>TAG	p.L291*	OR13A1_uc001jcd.1_Nonsense_Mutation_p.L287*	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.166667	17.226622	22.94795	9	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45798999	45798999	11339	10	A	T	T	T	65	5	OR13A1	5	3
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48390446C>A	uc001jez.2	-	c.432G>T	c.(430-432)CTG>CTT	p.L144L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	144	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.115385	9.231885	20.587238	9	69	KEEP	---	---	---	---	capture		Silent	SNP	48390446	48390446	13626	10	C	A	A	A	366	29	RBP3	2	2
PGBD3	267004	broad.mit.edu	37	10	50723384	50723384	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50723384C>T	uc009xoe.2	-	c.3181G>A	c.(3181-3183)GAA>AAA	p.E1061K	ERCC6_uc001jhs.3_Intron|PGBD3_uc001jht.2_Missense_Mutation_p.E593K|PGBD3_uc001jhu.2_Missense_Mutation_p.E1061K	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	593										breast(1)|pancreas(1)	2										5				0.222222	40.86847	45.973905	16	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50723384	50723384	12205	10	C	T	T	T	377	29	PGBD3	2	2
ZWINT	11130	broad.mit.edu	37	10	58118196	58118196	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:58118196C>T	uc001jjx.1	-	c.817G>A	c.(817-819)GAT>AAT	p.D273N	ZWINT_uc001jjy.1_Missense_Mutation_p.D226N|ZWINT_uc001jka.1_Missense_Mutation_p.D273N	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	273					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0														0.354167	52.972926	53.867479	17	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58118196	58118196	18854	10	C	T	T	T	416	32	ZWINT	2	2
SLC16A9	220963	broad.mit.edu	37	10	61424037	61424037	+	Silent	SNP	C	A	A	rs2306162		TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61424037C>A	uc010qig.1	-	c.384G>T	c.(382-384)ACG>ACT	p.T128T		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	128	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			ovary(1)	1														0.196721	31.347745	36.512471	12	49	KEEP	---	---	---	---	capture		Silent	SNP	61424037	61424037	14911	10	C	A	A	A	236	19	SLC16A9	1	1
KIAA1274	27143	broad.mit.edu	37	10	72292514	72292514	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72292514C>A	uc001jrd.3	+	c.771C>A	c.(769-771)CCC>CCA	p.P257P		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	257										ovary(2)|central_nervous_system(1)	3														0.465753	95.525385	95.601049	34	39	KEEP	---	---	---	---	capture		Silent	SNP	72292514	72292514	8529	10	C	A	A	A	275	22	KIAA1274	2	2
KIAA1274	27143	broad.mit.edu	37	10	72300942	72300942	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72300942C>T	uc001jrd.3	+	c.1993C>T	c.(1993-1995)CAG>TAG	p.Q665*	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	665										ovary(2)|central_nervous_system(1)	3														0.430556	93.907326	94.21115	31	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72300942	72300942	8529	10	C	T	T	T	273	21	KIAA1274	5	2
DLG5	9231	broad.mit.edu	37	10	79590564	79590564	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79590564C>T	uc001jzk.2	-	c.1816G>A	c.(1816-1818)GAC>AAC	p.D606N	DLG5_uc001jzj.2_Missense_Mutation_p.D361N|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.3_Missense_Mutation_p.D210N	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	606					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)											0.212766	21.925496	25.512304	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79590564	79590564	4738	10	C	T	T	T	403	31	DLG5	1	1
GRID1	2894	broad.mit.edu	37	10	87615902	87615902	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:87615902C>A	uc001kdl.1	-	c.997G>T	c.(997-999)GCC>TCC	p.A333S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	333	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|large_intestine(2)	7					L-Glutamic Acid(DB00142)						Multiple Myeloma(13;0.14)			0.346939	52.068396	53.07798	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87615902	87615902	7049	10	C	A	A	A	351	27	GRID1	1	1
OPALIN	93377	broad.mit.edu	37	10	98105779	98105779	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98105779C>A	uc001kmj.2	-	c.345G>T	c.(343-345)GTG>GTT	p.V115V	OPALIN_uc010qor.1_Silent_p.V105V|OPALIN_uc001kmi.2_Silent_p.V105V|OPALIN_uc001kmk.2_Silent_p.V92V|OPALIN_uc010qos.1_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	transmembrane protein 10 isoform a	115						Golgi apparatus|integral to membrane|plasma membrane					0														0.225352	77.826218	87.666158	32	110	KEEP	---	---	---	---	capture		Silent	SNP	98105779	98105779	11279	10	C	A	A	A	314	25	OPALIN	2	2
MMP27	64066	broad.mit.edu	37	11	102573542	102573542	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102573542C>A	uc001phd.1	-	c.561G>T	c.(559-561)CCG>CCT	p.P187P		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	187					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)										0.1875	39.753646	48.506507	18	78	KEEP	---	---	---	---	capture		Silent	SNP	102573542	102573542	10055	11	C	A	A	A	288	23	MMP27	1	1
DIXDC1	85458	broad.mit.edu	37	11	111864406	111864406	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111864406G>T	uc001pml.2	+	c.1379G>T	c.(1378-1380)CGA>CTA	p.R460L	DIXDC1_uc001pmm.2_Missense_Mutation_p.R249L|DIXDC1_uc001pmn.2_Missense_Mutation_p.R166L|DIXDC1_uc010rwq.1_Missense_Mutation_p.R125L	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	460					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)										0.351351	36.469513	37.187998	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111864406	111864406	4720	11	G	T	T	T	481	37	DIXDC1	1	1
HTR3A	3359	broad.mit.edu	37	11	113848528	113848528	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113848528C>T	uc010rxb.1	+	c.121C>T	c.(121-123)CTG>TTG	p.L41L	HTR3A_uc010rxa.1_Silent_p.L41L|HTR3A_uc009yyx.2_Non-coding_Transcript|HTR3A_uc010rxc.1_Silent_p.L20L	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	35	Extracellular (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)									0.121951	4.541329	10.292889	5	36	KEEP	---	---	---	---	capture		Silent	SNP	113848528	113848528	7744	11	C	T	T	T	363	28	HTR3A	2	2
SPA17	53340	broad.mit.edu	37	11	124551353	124551353	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124551353G>C	uc001qap.2	+	c.223G>C	c.(223-225)GAG>CAG	p.E75Q		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	75					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)										0.139535	11.921996	17.31724	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124551353	124551353	15472	11	G	C	C	C	481	37	SPA17	3	3
GLB1L3	112937	broad.mit.edu	37	11	134180979	134180979	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:134180979C>A	uc009zdf.2	+	c.1202C>A	c.(1201-1203)CCC>CAC	p.P401H	GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	401					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)										0.226804	106.49571	119.720072	44	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134180979	134180979	6698	11	C	A	A	A	286	22	GLB1L3	2	2
CALCB	797	broad.mit.edu	37	11	15098972	15098972	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15098972G>T	uc001mlx.1	+	c.365G>T	c.(364-366)CGC>CTC	p.R122L	CALCB_uc009ygr.1_Missense_Mutation_p.R122L	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	122					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0														0.291667	20.217719	21.149258	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15098972	15098972	2692	11	G	T	T	T	494	38	CALCB	1	1
DCDC1	341019	broad.mit.edu	37	11	31115714	31115714	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31115714G>A	uc001msu.1	-	c.858C>T	c.(856-858)GTC>GTT	p.V286V		DCDC5		P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	82					intracellular signal transduction						0	Lung SC(675;0.225)													0.28125	26.062491	27.437902	9	23	KEEP	---	---	---	---	capture		Silent	SNP	31115714	31115714	4455	11	G	A	A	A	521	41	DCDC1	2	2
PAX6	5080	broad.mit.edu	37	11	31815103	31815103	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31815103T>A	uc001mtg.3	-	c.959_splice	c.e12-1	p.V320_splice	PAX6_uc001mtd.3_Splice_Site_SNP_p.V306_splice|PAX6_uc001mte.3_Splice_Site_SNP_p.V306_splice|PAX6_uc001mtf.3_Splice_Site_SNP_p.V306_splice|PAX6_uc001mth.3_Splice_Site_SNP_p.V306_splice|PAX6_uc009yjr.2_Splice_Site_SNP_p.V306_splice	NM_001604	NP_001595			paired box gene 6 isoform b						central nervous system development|eye development|gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|neuron fate commitment|organ morphogenesis|pancreatic A cell development|positive regulation of gene expression|regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(2)|pancreas(1)	3	Lung SC(675;0.225)													0.162791	11.438849	16.203245	7	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31815103	31815103	11903	11	T	A	A	A	715	55	PAX6	5	3
OR52I2	143502	broad.mit.edu	37	11	4608963	4608963	+	Silent	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4608963A>T	uc010qyh.1	+	c.921A>T	c.(919-921)CTA>CTT	p.L307L		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	307	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.279279	81.878362	86.746591	31	80	KEEP	---	---	---	---	capture		Silent	SNP	4608963	4608963	11531	11	A	T	T	T	184	15	OR52I2	3	3
MADD	8567	broad.mit.edu	37	11	47296127	47296127	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47296127G>A	uc001ner.1	+	c.76G>A	c.(76-78)GAT>AAT	p.D26N	MADD_uc001neq.2_Missense_Mutation_p.D26N|MADD_uc001nev.1_Missense_Mutation_p.D26N|MADD_uc001nes.1_Missense_Mutation_p.D26N|MADD_uc001net.1_Missense_Mutation_p.D26N|MADD_uc009yln.1_Missense_Mutation_p.D26N|MADD_uc001neu.1_Missense_Mutation_p.D26N|MADD_uc001nex.2_Missense_Mutation_p.D26N|MADD_uc001nez.2_Missense_Mutation_p.D26N|MADD_uc001new.2_Missense_Mutation_p.D26N	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	26	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(3)|central_nervous_system(2)	10				Lung(87;0.182)						5				0.246377	74.011336	82.173017	34	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47296127	47296127	9529	11	G	A	A	A	585	45	MADD	2	2
OR4S1	256148	broad.mit.edu	37	11	48328531	48328531	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48328531A>G	uc010rhu.1	+	c.757A>G	c.(757-759)ATG>GTG	p.M253V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.273684	69.105819	73.492685	26	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48328531	48328531	11492	11	A	G	G	G	104	8	OR4S1	4	4
OR51A4	401666	broad.mit.edu	37	11	4967800	4967800	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4967800G>A	uc010qys.1	-	c.531C>T	c.(529-531)TCC>TCT	p.S177S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.107143	16.88436	38.267946	15	125	KEEP	---	---	---	---	capture		Silent	SNP	4967800	4967800	11497	11	G	A	A	A	548	43	OR51A4	2	2
OR4C46	119749	broad.mit.edu	37	11	51515622	51515622	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515622C>A	uc010ric.1	+	c.341C>A	c.(340-342)ACT>AAT	p.T114N		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.316327	88.641592	91.554536	31	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51515622	51515622	11458	11	C	A	A	A	260	20	OR4C46	2	2
OR4C15	81309	broad.mit.edu	37	11	55322326	55322326	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322326C>G	uc010rig.1	+	c.544C>G	c.(544-546)CCC>GCC	p.P182A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.314286	61.480903	63.655454	22	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322326	55322326	11454	11	C	G	G	G	338	26	OR4C15	3	3
OR4C6	219432	broad.mit.edu	37	11	55433434	55433434	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433434C>T	uc001nht.3	+	c.792C>T	c.(790-792)CCC>CCT	p.P264P	OR4C6_uc010rik.1_Silent_p.P264P	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.275362	50.393165	53.529798	19	50	KEEP	---	---	---	---	capture		Silent	SNP	55433434	55433434	11459	11	C	T	T	T	262	21	OR4C6	2	2
OR5L1	219437	broad.mit.edu	37	11	55579618	55579618	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579618C>A	uc001nhw.1	+	c.676C>A	c.(676-678)CTG>ATG	p.L226M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.222222	32.915629	37.388661	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579618	55579618	11580	11	C	A	A	A	311	24	OR5L1	2	2
OR5I1	10798	broad.mit.edu	37	11	55703699	55703699	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55703699G>C	uc010ris.1	-	c.178C>G	c.(178-180)CCC>GCC	p.P60A		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.289474	30.108609	31.61877	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55703699	55703699	11574	11	G	C	C	C	559	43	OR5I1	3	3
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55872708C>T	uc010riy.1	+	c.190C>T	c.(190-192)CTT>TTT	p.L64F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.20339	90.301186	104.757559	36	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55872708	55872708	11649	11	C	T	T	T	312	24	OR8H2	2	2
OR8H3	390152	broad.mit.edu	37	11	55890038	55890038	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55890038C>T	uc001nii.1	+	c.190C>T	c.(190-192)CTT>TTT	p.L64F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.055794	-19.323291	29.044394	13	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55890038	55890038	11650	11	C	T	T	T	312	24	OR8H3	2	2
OR8J3	81168	broad.mit.edu	37	11	55904959	55904960	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904959_55904960GG>TT	uc010riz.1	-	c.235_236CC>AA	c.(235-237)CCT>AAT	p.P79N		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.350649	77.304301	78.818182	27	50	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	55904959	55904960	11653	11	GG	TT	TT	TT	455	35	OR8J3	2	2
OR9G9	504191	broad.mit.edu	37	11	56468369	56468369	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56468369G>T	uc010rjn.1	+	c.506G>T	c.(505-507)TGT>TTT	p.C169F		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.125	10.400673	20.361734	9	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56468369	56468369	11663	11	G	T	T	T	520	40	OR9G9	1	1
MS4A12	54860	broad.mit.edu	37	11	60268517	60268517	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60268517G>T	uc001npr.2	+	c.277_splice	c.e3-1	p.V93_splice		NM_017716	NP_060186			membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity				0														0.25641	97.768137	106.21688	40	116	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	60268517	60268517	10249	11	G	T	T	T	455	35	MS4A12	5	2
CDHR5	53841	broad.mit.edu	37	11	617536	617536	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:617536C>G	uc001lqj.2	-	c.2353G>C	c.(2353-2355)GAG>CAG	p.E785Q	IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.E591Q|CDHR5_uc009ycc.2_Missense_Mutation_p.E619Q|CDHR5_uc009ycd.2_Missense_Mutation_p.E779Q|CDHR5_uc001lql.2_Missense_Mutation_p.E785Q	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	785	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.2	10.764725	12.855271	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	617536	617536	3251	11	C	G	G	G	390	30	CDHR5	3	3
C11orf42	160298	broad.mit.edu	37	11	6231697	6231697	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6231697C>T	uc001mcj.2	+	c.690C>T	c.(688-690)CTC>CTT	p.L230L		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	230	Pro-rich.									ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.233766	39.658827	44.711539	18	59	KEEP	---	---	---	---	capture		Silent	SNP	6231697	6231697	1680	11	C	T	T	T	366	29	C11orf42	2	2
CDC42BPG	55561	broad.mit.edu	37	11	64604410	64604410	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64604410C>T	uc001obs.3	-	c.1287G>A	c.(1285-1287)CTG>CTA	p.L429L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	429	Potential.				actin cytoskeleton reorganization|intracellular signal transduction|protein phosphorylation	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4										665				0.128571	11.039347	20.438798	9	61	KEEP	---	---	---	---	capture		Silent	SNP	64604410	64604410	3202	11	C	T	T	T	366	29	CDC42BPG	2	2
CNIH2	254263	broad.mit.edu	37	11	66049783	66049783	+	Silent	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66049783G>C	uc001ohi.1	+	c.135G>C	c.(133-135)GGG>GGC	p.G45G	CNIH2_uc001ohh.2_Silent_p.G45G|CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	cornichon homolog 2	45	Lumenal (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|transport	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding				0														0.115385	6.120021	13.692996	6	46	KEEP	---	---	---	---	capture		Silent	SNP	66049783	66049783	3741	11	G	C	C	C	522	41	CNIH2	3	3
ACTN3	89	broad.mit.edu	37	11	66325509	66325509	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66325509C>A	uc001oio.1	+	c.1140C>A	c.(1138-1140)AAC>AAA	p.N380K	ACTN3_uc010rpi.1_Non-coding_Transcript	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	380	Spectrin 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0														0.52381	37.027405	37.037914	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66325509	66325509	207	11	C	A	A	A	246	19	ACTN3	1	1
CORO1B	57175	broad.mit.edu	37	11	67209219	67209219	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67209219C>T	uc001olj.1	-	c.439G>A	c.(439-441)GTG>ATG	p.V147M	CORO1B_uc009yrs.1_Non-coding_Transcript|CORO1B_uc001olk.1_Missense_Mutation_p.V147M|CORO1B_uc009yrt.1_Non-coding_Transcript|CORO1B_uc009yru.1_Non-coding_Transcript|CORO1B_uc001oll.1_Missense_Mutation_p.V147M|CORO1B_uc010rps.1_Missense_Mutation_p.V147M|CORO1B_uc009yrv.1_Missense_Mutation_p.V147M	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	147	WD 2.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)											0.142857	6.743648	10.133728	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67209219	67209219	3892	11	C	T	T	T	247	19	CORO1B	1	1
C2CD3	26005	broad.mit.edu	37	11	73814377	73814377	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73814377C>G	uc001ouu.2	-	c.2379G>C	c.(2377-2379)CAG>CAC	p.Q793H		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	793										ovary(3)|pancreas(2)	5	Breast(11;4.16e-06)													0.244186	51.648558	56.768251	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73814377	73814377	2237	11	C	G	G	G	415	32	C2CD3	3	3
GDPD5	81544	broad.mit.edu	37	11	75146592	75146592	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75146592C>T	uc001owo.3	-	c.1778G>A	c.(1777-1779)GGC>GAC	p.G593D	GDPD5_uc001owp.3_Missense_Mutation_p.G593D|GDPD5_uc001own.3_Missense_Mutation_p.G348D|GDPD5_uc009yuc.2_Missense_Mutation_p.G455D|GDPD5_uc009yud.2_Missense_Mutation_p.G474D	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	593	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1														0.622642	103.820273	104.542222	33	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75146592	75146592	6595	11	C	T	T	T	338	26	GDPD5	2	2
GRM5	2915	broad.mit.edu	37	11	88386426	88386426	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88386426G>T	uc001pcq.2	-	c.1057C>A	c.(1057-1059)CCT>ACT	p.P353T	GRM5_uc009yvm.2_Missense_Mutation_p.P353T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	353	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.397059	77.689786	78.325881	27	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88386426	88386426	7079	11	G	T	T	T	559	43	GRM5	2	2
NAALAD2	10003	broad.mit.edu	37	11	89896592	89896592	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89896592G>T	uc001pdf.3	+	c.1190G>T	c.(1189-1191)AGT>ATT	p.S397I	NAALAD2_uc009yvx.2_Missense_Mutation_p.S364I|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.S304I	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	397	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.20339	56.45023	66.077697	24	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89896592	89896592	10523	11	G	T	T	T	468	36	NAALAD2	2	2
FAT3	120114	broad.mit.edu	37	11	92564916	92564916	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92564916A>T	uc001pdj.3	+	c.9610A>T	c.(9610-9612)AGC>TGC	p.S3204C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3204	Cadherin 29.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.411765	21.321033	21.43683	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92564916	92564916	5927	11	A	T	T	T	91	7	FAT3	3	3
C12orf51	283450	broad.mit.edu	37	12	112622620	112622620	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112622620C>T	uc009zwc.2	-	c.8884G>A	c.(8884-8886)GAT>AAT	p.D2962N		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.494382	138.415941	138.417974	44	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112622620	112622620	1740	12	C	T	T	T	403	31	C12orf51	1	1
RBM19	9904	broad.mit.edu	37	12	114385258	114385258	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114385258C>T	uc009zwi.2	-	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	RBM19_uc001tvn.3_Missense_Mutation_p.E430K|RBM19_uc001tvm.2_Missense_Mutation_p.E430K	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	430	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.346154	22.565217	23.109359	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114385258	114385258	13582	12	C	T	T	T	377	29	RBM19	2	2
ETV6	2120	broad.mit.edu	37	12	12022455	12022455	+	Silent	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:12022455G>C	uc001qzz.2	+	c.561G>C	c.(559-561)ACG>ACC	p.T187T	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	187					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(1)|pancreas(1)	247		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)								175				0.253275	157.435569	170.038549	58	171	KEEP	---	---	---	---	capture		Silent	SNP	12022455	12022455	5476	12	G	C	C	C	470	37	ETV6	3	3
CAMKK2	10645	broad.mit.edu	37	12	121712118	121712118	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121712118T>G	uc001tzu.2	-	c.212A>C	c.(211-213)GAC>GCC	p.D71A	CAMKK2_uc001tzt.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzv.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzw.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzx.2_Missense_Mutation_p.D71A|CAMKK2_uc001tzy.2_Missense_Mutation_p.D71A|CAMKK2_uc001uaa.1_Missense_Mutation_p.D71A|CAMKK2_uc001uab.2_Missense_Mutation_p.D71A|CAMKK2_uc001uac.2_Missense_Mutation_p.D71A|CAMKK2_uc001uad.1_Missense_Mutation_p.D71A	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	71					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			large_intestine(1)|lung(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)									369				0.758621	70.23882	72.005754	22	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121712118	121712118	2724	12	T	G	G	G	754	58	CAMKK2	4	4
AACS	65985	broad.mit.edu	37	12	125618592	125618592	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125618592C>T	uc001uhc.2	+	c.1593C>T	c.(1591-1593)ACC>ACT	p.T531T	AACS_uc001uhd.2_Silent_p.T531T|AACS_uc009zyh.2_Non-coding_Transcript|AACS_uc009zyi.2_Silent_p.T129T	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	531					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)										0.619048	43.880788	44.143056	13	8	KEEP	---	---	---	---	capture		Silent	SNP	125618592	125618592	10	12	C	T	T	T	288	23	AACS	1	1
PGAM5	192111	broad.mit.edu	37	12	133291502	133291502	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133291502G>C	uc009zyv.2	+	c.250G>C	c.(250-252)GAG>CAG	p.E84Q	PGAM5_uc010tbr.1_Non-coding_Transcript|PGAM5_uc001uku.2_Missense_Mutation_p.E84Q	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	84						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)										0.142857	14.199592	20.215151	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133291502	133291502	12199	12	G	C	C	C	429	33	PGAM5	3	3
SOX5	6660	broad.mit.edu	37	12	23999001	23999001	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:23999001C>T	uc001rfw.2	-	c.397G>A	c.(397-399)GAA>AAA	p.E133K	SOX5_uc001rfx.2_Missense_Mutation_p.E120K|SOX5_uc001rfy.2_Missense_Mutation_p.E120K|SOX5_uc010siv.1_Missense_Mutation_p.E120K|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E85K|SOX5_uc001rga.2_Missense_Mutation_p.E98K	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	133					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6														0.252632	57.622341	62.932247	24	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23999001	23999001	15454	12	C	T	T	T	377	29	SOX5	2	2
PUS7L	83448	broad.mit.edu	37	12	44148624	44148624	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44148624C>A	uc001rnq.3	-	c.425G>T	c.(424-426)TGT>TTT	p.C142F	PUS7L_uc001rnr.3_Missense_Mutation_p.C142F|PUS7L_uc001rns.3_Missense_Mutation_p.C142F|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	142					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)										0.761905	165.630144	169.576682	48	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44148624	44148624	13292	12	C	A	A	A	221	17	PUS7L	2	2
KDM5A	5927	broad.mit.edu	37	12	493250	493250	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:493250G>C	uc001qif.1	-	c.313C>G	c.(313-315)CTG>GTG	p.L105V	KDM5A_uc001qie.1_Missense_Mutation_p.L105V|KDM5A_uc010sdn.1_Intron|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	105	ARID.				chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.275	99.823978	105.294569	33	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	493250	493250	8439	12	G	C	C	C	425	33	KDM5A	3	3
AGAP2	116986	broad.mit.edu	37	12	58121198	58121198	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58121198G>T	uc001spq.2	-	c.3025C>A	c.(3025-3027)CGC>AGC	p.R1009S	AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Missense_Mutation_p.R1008S|AGAP2_uc001spr.2_Missense_Mutation_p.R653S|LOC100130776_uc001sps.3_Silent_p.A141A	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	1009	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5										257				0.428571	19.251329	19.312774	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58121198	58121198	370	12	G	T	T	T	507	39	AGAP2	1	1
USP15	9958	broad.mit.edu	37	12	62783402	62783402	+	Silent	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:62783402A>T	uc001src.1	+	c.1575A>T	c.(1573-1575)ATA>ATT	p.I525I	USP15_uc001srb.1_Silent_p.I496I	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	525					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		Melanoma(181;615 2041 39364 49691 50001)								0.4375	137.040939	137.366959	42	54	KEEP	---	---	---	---	capture		Silent	SNP	62783402	62783402	17608	12	A	T	T	T	202	16	USP15	3	3
CHD4	1108	broad.mit.edu	37	12	6707449	6707449	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6707449T>G	uc001qpp.2	-	c.1616A>C	c.(1615-1617)CAG>CCG	p.Q539P	CHD4_uc001qpn.2_Missense_Mutation_p.Q535P|CHD4_uc001qpo.2_Missense_Mutation_p.Q542P	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	542	Chromo 1.				chromatin assembly or disassembly|chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding|zinc ion binding			central_nervous_system(2)	2						Colon(32;586 792 4568 16848 45314)								0.363636	135.854934	138.23667	52	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6707449	6707449	3461	12	T	G	G	G	715	55	CHD4	4	4
TMCC3	57458	broad.mit.edu	37	12	94975550	94975550	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94975550C>A	uc001tdj.2	-	c.843G>T	c.(841-843)CTG>CTT	p.L281L	TMCC3_uc001tdi.2_Silent_p.L250L	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	281						integral to membrane				ovary(1)	1														0.510638	71.890782	71.895211	24	23	KEEP	---	---	---	---	capture		Silent	SNP	94975550	94975550	16524	12	C	A	A	A	262	21	TMCC3	2	2
MYO16	23026	broad.mit.edu	37	13	109562458	109562458	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109562458G>A	uc010agk.1	+	c.1885G>A	c.(1885-1887)GAA>AAA	p.E629K	MYO16_uc001vqt.1_Missense_Mutation_p.E607K|MYO16_uc001vqu.1_Missense_Mutation_p.E407K|MYO16_uc010tjh.1_Missense_Mutation_p.E119K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	607	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.269504	107.715795	114.538507	38	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109562458	109562458	10459	13	G	A	A	A	429	33	MYO16	2	2
IRS2	8660	broad.mit.edu	37	13	110434431	110434431	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110434431C>A	uc001vqv.2	-	c.3970G>T	c.(3970-3972)GAC>TAC	p.D1324Y		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1324				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	5	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			Melanoma(100;613 2409 40847)				156				0.4375	20.121455	20.176115	7	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110434431	110434431	8145	13	C	A	A	A	377	29	IRS2	2	2
ARHGEF7	8874	broad.mit.edu	37	13	111896599	111896599	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111896599C>T	uc001vrs.2	+	c.971C>T	c.(970-972)TCT>TTT	p.S324F	ARHGEF7_uc001vrr.2_Missense_Mutation_p.S303F|ARHGEF7_uc001vrt.2_Missense_Mutation_p.S274F|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Missense_Mutation_p.S146F|ARHGEF7_uc001vrv.3_Missense_Mutation_p.S146F|ARHGEF7_uc001vrw.3_Missense_Mutation_p.S146F|ARHGEF7_uc001vrx.3_Missense_Mutation_p.S146F|ARHGEF7_uc010tjo.1_Missense_Mutation_p.S221F|ARHGEF7_uc010tjp.1_Missense_Mutation_p.S68F|ARHGEF7_uc010agn.1_Missense_Mutation_p.S68F	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	324	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)							707				0.178571	20.710009	26.164417	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111896599	111896599	926	13	C	T	T	T	416	32	ARHGEF7	2	2
SACS	26278	broad.mit.edu	37	13	23910525	23910525	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23910525C>A	uc001uon.2	-	c.7490G>T	c.(7489-7491)GGA>GTA	p.G2497V	SACS_uc001uoo.2_Missense_Mutation_p.G2350V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2497					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.357664	134.223745	136.673484	49	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23910525	23910525	14284	13	C	A	A	A	390	30	SACS	2	2
B3GALTL	145173	broad.mit.edu	37	13	31898026	31898026	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31898026C>T	uc010aaz.2	+	c.1323C>T	c.(1321-1323)TTC>TTT	p.F441F	B3GALTL_uc001utn.3_Non-coding_Transcript|B3GALTL_uc001uto.3_Silent_p.F46F	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	441	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)										0.389831	273.597301	276.120212	92	144	KEEP	---	---	---	---	capture		Silent	SNP	31898026	31898026	1273	13	C	T	T	T	389	30	B3GALTL	2	2
OLFM4	10562	broad.mit.edu	37	13	53616044	53616044	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53616044G>T	uc001vhl.2	+	c.358_splice	c.e3-1	p.V120_splice	OLFM4_uc001vhk.1_Splice_Site_SNP_p.V120_splice	NM_006418	NP_006409			olfactomedin 4 precursor						cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.261905	28.807256	30.960604	11	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	53616044	53616044	11260	13	G	T	T	T	455	35	OLFM4	5	2
TDRD3	81550	broad.mit.edu	37	13	61084791	61084791	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61084791G>T	uc010aeg.2	+	c.1043G>T	c.(1042-1044)AGA>ATA	p.R348I	TDRD3_uc010aef.2_Missense_Mutation_p.R80I|TDRD3_uc001via.2_Missense_Mutation_p.R255I|TDRD3_uc001vhz.3_Missense_Mutation_p.R255I|TDRD3_uc001vib.3_Missense_Mutation_p.R254I	NM_001146070	NP_001139542	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 1	255					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		Colon(36;164 906 35820 50723)								0.348837	40.113541	40.979793	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61084791	61084791	16259	13	G	T	T	T	429	33	TDRD3	2	2
UGGT2	55757	broad.mit.edu	37	13	96485250	96485250	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:96485250C>G	uc001vmt.2	-	c.4459G>C	c.(4459-4461)GAA>CAA	p.E1487Q	UGGT2_uc001vms.2_Missense_Mutation_p.E207Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1487	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3														0.193548	28.964429	34.398721	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96485250	96485250	17500	13	C	G	G	G	416	32	UGGT2	3	3
RNF113B	140432	broad.mit.edu	37	13	98829362	98829362	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:98829362G>T	uc001vnk.2	-	c.129C>A	c.(127-129)CAC>CAA	p.H43Q	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	43							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)											0.52	40.414893	40.421172	13	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98829362	98829362	13905	13	G	T	T	T	516	40	RNF113B	1	1
KIAA0284	283638	broad.mit.edu	37	14	105350346	105350346	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105350346C>T	uc010axb.2	+	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.D340D|KIAA0284_uc001yps.2_Silent_p.D316D	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	410						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)										0.6	10.027119	10.071391	3	2	KEEP	---	---	---	---	capture		Silent	SNP	105350346	105350346	8473	14	C	T	T	T	246	19	KIAA0284	1	1
NUDT14	256281	broad.mit.edu	37	14	105643016	105643016	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105643016C>A	uc010tyn.1	-	c.283G>T	c.(283-285)GGC>TGC	p.G95C	NUDT14_uc001yqi.2_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	nudix-type motif 14	95	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			skin(1)	1		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)										0.225806	35.925299	40.200386	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105643016	105643016	11135	14	C	A	A	A	299	23	NUDT14	1	1
OR4N2	390429	broad.mit.edu	37	14	20296313	20296313	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20296313G>T	uc010tkv.1	+	c.706G>T	c.(706-708)GCC>TCC	p.A236S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	236	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.368794	137.985553	140.146772	52	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20296313	20296313	11487	14	G	T	T	T	546	42	OR4N2	2	2
OR4K15	81127	broad.mit.edu	37	14	20443737	20443738	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20443737_20443738CC>AA	uc010tkx.1	+	c.60_61CC>AA	c.(58-63)TCCCTT>TCAATT	p.L21I		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.240506	49.298597	54.077049	19	60	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	20443737	20443738	11480	14	CC	AA	AA	AA	275	22	OR4K15	2	2
RNASE7	84659	broad.mit.edu	37	14	21511199	21511199	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21511199G>T	uc001vzk.3	+	c.48G>T	c.(46-48)CTG>CTT	p.L16L	NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_Non-coding_Transcript	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7 precursor	16					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)										0.346154	26.066953	26.610372	9	17	KEEP	---	---	---	---	capture		Silent	SNP	21511199	21511199	13885	14	G	T	T	T	587	46	RNASE7	2	2
OR10G3	26533	broad.mit.edu	37	14	22038045	22038045	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22038045G>A	uc010tmb.1	-	c.831C>T	c.(829-831)CCC>CCT	p.P277P		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|central_nervous_system(1)	2	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)										0.296296	60.18102	63.180358	24	57	KEEP	---	---	---	---	capture		Silent	SNP	22038045	22038045	11306	14	G	A	A	A	600	47	OR10G3	2	2
NGDN	25983	broad.mit.edu	37	14	23944783	23944783	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23944783G>A	uc001wjy.2	+	c.299G>A	c.(298-300)CGT>CAT	p.R100H	NGDN_uc001wjz.2_Missense_Mutation_p.R100H|NGDN_uc001wka.2_5'Flank	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	100	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)										0.438095	139.866761	140.209763	46	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23944783	23944783	10793	14	G	A	A	A	520	40	NGDN	1	1
PRKD1	5587	broad.mit.edu	37	14	30095757	30095757	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30095757G>A	uc001wqh.2	-	c.1731C>T	c.(1729-1731)ATC>ATT	p.I577I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	577					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.25	32.246582	35.203986	13	39	KEEP	---	---	---	---	capture		Silent	SNP	30095757	30095757	12961	14	G	A	A	A	577	45	PRKD1	2	2
PRKD1	5587	broad.mit.edu	37	14	30396585	30396585	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30396585G>A	uc001wqh.2	-	c.134C>T	c.(133-135)CCG>CTG	p.P45L		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	45					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.4	13.102373	13.188398	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30396585	30396585	12961	14	G	A	A	A	507	39	PRKD1	1	1
FRMD6	122786	broad.mit.edu	37	14	52188726	52188726	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52188726G>T	uc001wzd.2	+	c.1420G>T	c.(1420-1422)GAA>TAA	p.E474*	FRMD6_uc001wzb.2_Nonsense_Mutation_p.E466*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.E466*|FRMD6_uc001wze.2_Nonsense_Mutation_p.E397*|FRMD6_uc001wzf.2_Nonsense_Mutation_p.E167*|FRMD6_uc001wzg.2_Nonsense_Mutation_p.E116*	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	474						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(31;0.0163)|Breast(41;0.089)													0.25	30.856473	33.806776	13	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52188726	52188726	6304	14	G	T	T	T	533	41	FRMD6	5	2
OTX2	5015	broad.mit.edu	37	14	57268855	57268855	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57268855G>A	uc001xcq.2	-	c.492C>T	c.(490-492)TCC>TCT	p.S164S	OTX2_uc001xcp.2_Silent_p.S156S|OTX2_uc010aou.2_Silent_p.S156S	NM_021728	NP_068374	P32243	OTX2_HUMAN	orthodenticle homeobox 2 isoform a	156					axon guidance|forebrain development|midbrain development|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	growth cone|nucleus	eukaryotic initiation factor 4E binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)													0.115385	6.061165	13.598749	6	46	KEEP	---	---	---	---	capture		Silent	SNP	57268855	57268855	11734	14	G	A	A	A	600	47	OTX2	2	2
DACT1	51339	broad.mit.edu	37	14	59108331	59108331	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59108331G>T	uc001xdw.2	+	c.500G>T	c.(499-501)GGG>GTG	p.G167V	DACT1_uc010trv.1_5'UTR|DACT1_uc001xdx.2_Missense_Mutation_p.G167V|DACT1_uc010trw.1_5'UTR	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	167					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.198413	51.101238	61.788168	25	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59108331	59108331	4388	14	G	T	T	T	559	43	DACT1	2	2
ADAM20	8748	broad.mit.edu	37	14	70991507	70991507	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70991507G>C	uc001xme.2	-	c.118C>G	c.(118-120)CTA>GTA	p.L40V		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	Error:Variant_position_missing_in_O43506_after_alignment					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)										0.410526	123.401104	124.066897	39	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70991507	70991507	243	14	G	C	C	C	425	33	ADAM20	3	3
PCNX	22990	broad.mit.edu	37	14	71518646	71518646	+	Silent	SNP	T	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71518646T>C	uc001xmo.2	+	c.4494T>C	c.(4492-4494)TCT>TCC	p.S1498S	PCNX_uc010are.1_Silent_p.S1387S|PCNX_uc010arf.1_Silent_p.S358S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1498						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.455128	223.88336	224.143363	71	85	KEEP	---	---	---	---	capture		Silent	SNP	71518646	71518646	12011	14	T	C	C	C	678	53	PCNX	4	4
ACOT1	641371	broad.mit.edu	37	14	74008311	74008311	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74008311A>G	uc001xol.1	+	c.572A>G	c.(571-573)TAT>TGT	p.Y191C	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Missense_Mutation_p.Y191C	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	191					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)										0.525641	138.493554	138.539757	41	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74008311	74008311	149	14	A	G	G	G	208	16	ACOT1	4	4
KIAA1409	57578	broad.mit.edu	37	14	94156556	94156556	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94156556C>T	uc001ybv.1	+	c.6831C>T	c.(6829-6831)GCC>GCT	p.A2277A	KIAA1409_uc001ybs.1_Silent_p.A2255A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2432						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.283784	58.19529	61.341603	21	53	KEEP	---	---	---	---	capture		Silent	SNP	94156556	94156556	8539	14	C	T	T	T	301	24	KIAA1409	2	2
SERPINA10	51156	broad.mit.edu	37	14	94754747	94754747	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94754747G>T	uc001yct.2	-	c.868C>A	c.(868-870)CTG>ATG	p.L290M	SERPINA10_uc001ycu.3_Missense_Mutation_p.L290M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	290					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)										0.40678	75.491889	75.939045	24	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94754747	94754747	14575	14	G	T	T	T	464	36	SERPINA10	2	2
GABRA5	2558	broad.mit.edu	37	15	27159959	27159959	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27159959C>T	uc001zbd.1	+	c.507C>T	c.(505-507)ATC>ATT	p.I169I	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	169	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.346154	27.571825	28.112965	9	17	KEEP	---	---	---	---	capture		Silent	SNP	27159959	27159959	6415	15	C	T	T	T	408	32	GABRA5	2	2
LTK	4058	broad.mit.edu	37	15	41796253	41796253	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41796253G>T	uc001zoa.3	-	c.2536C>A	c.(2536-2538)CCC>ACC	p.P846T	LTK_uc001zob.3_Missense_Mutation_p.P785T|LTK_uc010ucx.1_Missense_Mutation_p.P716T|LTK_uc010bcg.2_Missense_Mutation_p.P544T	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	846	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)						314	TSP Lung(18;0.14)			0.666667	79.697425	80.704042	26	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41796253	41796253	9456	15	G	T	T	T	546	42	LTK	2	2
MGA	23269	broad.mit.edu	37	15	41991273	41991273	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41991273A>T	uc010ucy.1	+	c.2104A>T	c.(2104-2106)AGA>TGA	p.R702*	MGA_uc001zog.1_Nonsense_Mutation_p.R702*|MGA_uc010ucz.1_Nonsense_Mutation_p.R702*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	702					regulation of transcription, DNA-dependent	MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|skin(1)	11		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)						606				0.5	19.152553	19.152553	6	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41991273	41991273	9930	15	A	T	T	T	36	3	MGA	5	3
SIN3A	25942	broad.mit.edu	37	15	75705247	75705247	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75705247G>C	uc002bai.2	-	c.613C>G	c.(613-615)CCT>GCT	p.P205A	SIN3A_uc002baj.2_Missense_Mutation_p.P205A|SIN3A_uc010uml.1_Missense_Mutation_p.P205A	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	205	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			ovary(1)|lung(1)	2														0.157895	13.328609	17.566177	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75705247	75705247	14820	15	G	C	C	C	533	41	SIN3A	3	3
NDE1	54820	broad.mit.edu	37	16	15771799	15771799	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15771799G>T	uc002ddt.1	+	c.379G>T	c.(379-381)GCC>TCC	p.A127S	NDE1_uc010uzy.1_Missense_Mutation_p.A127S|NDE1_uc002dds.2_Missense_Mutation_p.A127S	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	127	Interaction with PAFAH1B1 (By similarity).|Potential.				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1										8				0.421053	49.708265	49.911024	16	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15771799	15771799	10642	16	G	T	T	T	442	34	NDE1	2	2
UMOD	7369	broad.mit.edu	37	16	20352544	20352544	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20352544C>T	uc002dhb.2	-	c.1545G>A	c.(1543-1545)GAG>GAA	p.E515E	UMOD_uc002dgz.2_Silent_p.E482E|UMOD_uc002dha.2_Silent_p.E482E	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	482	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.181818	17.393163	21.573181	8	36	KEEP	---	---	---	---	capture		Silent	SNP	20352544	20352544	17537	16	C	T	T	T	311	24	UMOD	2	2
SYNGR3	9143	broad.mit.edu	37	16	2042716	2042716	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2042716G>A	uc002cod.2	+	c.417G>A	c.(415-417)ACG>ACA	p.T139T		NM_004209	NP_004200	O43761	SNG3_HUMAN	synaptogyrin 3	139	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle					0														0.615385	25.202698	25.355279	8	5	KEEP	---	---	---	---	capture		Silent	SNP	2042716	2042716	15971	16	G	A	A	A	470	37	SYNGR3	1	1
ACSM5	54988	broad.mit.edu	37	16	20432712	20432712	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20432712G>T	uc002dhe.2	+	c.756G>T	c.(754-756)GTG>GTT	p.V252V		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	252					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.5	33.123147	33.123147	11	11	KEEP	---	---	---	---	capture		Silent	SNP	20432712	20432712	188	16	G	T	T	T	600	47	ACSM5	2	2
ZNF598	90850	broad.mit.edu	37	16	2048280	2048280	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2048280C>G	uc002cof.1	-	c.2668G>C	c.(2668-2670)GAC>CAC	p.D890H	ZNF598_uc002coe.1_Missense_Mutation_p.D254H	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	890						intracellular	zinc ion binding				0														0.452381	115.848673	116.024144	38	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2048280	2048280	18623	16	C	G	G	G	390	30	ZNF598	3	3
CASKIN1	57524	broad.mit.edu	37	16	2231382	2231382	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2231382C>A	uc010bsg.1	-	c.1987G>T	c.(1987-1989)GCT>TCT	p.A663S		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	663					signal transduction	cytoplasm					0														0.47619	30.949676	30.959943	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2231382	2231382	2785	16	C	A	A	A	338	26	CASKIN1	2	2
PRKCB	5579	broad.mit.edu	37	16	24166083	24166083	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24166083G>A	uc002dme.2	+	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	PRKCB_uc002dmd.2_Missense_Mutation_p.D382N	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	382	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.15625	10.053105	13.663291	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24166083	24166083	12951	16	G	A	A	A	585	45	PRKCB	2	2
IL4R	3566	broad.mit.edu	37	16	27374394	27374394	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27374394G>T	uc002don.2	+	c.1721G>T	c.(1720-1722)GGC>GTC	p.G574V	IL4R_uc002dop.3_Missense_Mutation_p.G559V|IL4R_uc010bxy.2_Missense_Mutation_p.G574V|IL4R_uc002doo.2_Missense_Mutation_p.G414V	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	574	Required for IL4-induced gene expression.|Cytoplasmic (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.228571	17.670625	20.049329	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27374394	27374394	7999	16	G	T	T	T	546	42	IL4R	2	2
SRRM2	23524	broad.mit.edu	37	16	2813861	2813861	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2813861G>A	uc002crk.2	+	c.3332G>A	c.(3331-3333)AGA>AAA	p.R1111K	SRRM2_uc002crj.1_Missense_Mutation_p.R1015K|SRRM2_uc002crl.1_Missense_Mutation_p.R1111K|SRRM2_uc010bsu.1_Missense_Mutation_p.R1015K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1111	Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.637931	122.180831	123.149489	37	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2813861	2813861	15683	16	G	A	A	A	429	33	SRRM2	2	2
SRCAP	10847	broad.mit.edu	37	16	30732519	30732519	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30732519C>T	uc002dze.1	+	c.3263C>T	c.(3262-3264)TCC>TTC	p.S1088F	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.S945F|SRCAP_uc010bzz.1_Missense_Mutation_p.S658F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1088	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)											0.328571	68.822851	70.635775	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30732519	30732519	15649	16	C	T	T	T	390	30	SRCAP	2	2
CDH1	999	broad.mit.edu	37	16	68862125	68862125	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68862125A>G	uc002ewg.1	+	c.2213A>G	c.(2212-2214)AAA>AGA	p.K738R	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.K677R	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	738	Cytoplasmic (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|focal adhesion|integral to membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding|transcription activator activity			breast(136)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	231		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)						231				0.507246	119.325943	119.329091	35	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68862125	68862125	3224	16	A	G	G	G	13	1	CDH1	4	4
HYDIN	54768	broad.mit.edu	37	16	71025199	71025199	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71025199C>G	uc002ezr.2	-	c.3886G>C	c.(3886-3888)GAG>CAG	p.E1296Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1297										ovary(1)	1		Ovarian(137;0.0654)												0.117647	9.112425	16.442115	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71025199	71025199	7767	16	C	G	G	G	390	30	HYDIN	3	3
HPR	3250	broad.mit.edu	37	16	72110531	72110531	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72110531G>T	uc002fby.2	+	c.598G>T	c.(598-600)GTT>TTT	p.V200F	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	200	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)												0.384615	63.492086	64.097515	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72110531	72110531	7629	16	G	T	T	T	624	48	HPR	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77325355	77325355	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77325355C>G	uc002ffc.3	-	c.3210G>C	c.(3208-3210)TTG>TTC	p.L1070F		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1070	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.277778	111.248556	117.640786	40	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77325355	77325355	264	16	C	G	G	G	272	21	ADAMTS18	3	3
MYH8	4626	broad.mit.edu	37	17	10310251	10310251	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10310251G>A	uc002gmm.2	-	c.2011C>T	c.(2011-2013)CAC>TAC	p.H671Y		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	671	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.153846	13.482044	19.434468	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10310251	10310251	10436	17	G	A	A	A	585	45	MYH8	2	2
MYH2	4620	broad.mit.edu	37	17	10450921	10450921	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10450921C>A	uc010coi.2	-	c.219G>T	c.(217-219)AAG>AAT	p.K73N	MYH2_uc002gmp.3_Missense_Mutation_p.K73N|MYH2_uc010coj.2_Missense_Mutation_p.K73N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	73	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.593023	166.643784	167.29677	51	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10450921	10450921	10430	17	C	A	A	A	311	24	MYH2	2	2
RNF112	7732	broad.mit.edu	37	17	19316938	19316938	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19316938A>T	uc010vyv.1	+	c.769A>T	c.(769-771)AGC>TGC	p.S257C	RNF112_uc010vyw.1_Missense_Mutation_p.S257C|RNF112_uc010vyx.1_Missense_Mutation_p.S140C	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	257							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2														0.5	28.072969	28.072969	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19316938	19316938	13903	17	A	T	T	T	143	11	RNF112	3	3
KSR1	8844	broad.mit.edu	37	17	25932628	25932628	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25932628G>T	uc010crg.2	+	c.1438G>T	c.(1438-1440)GAG>TAG	p.E480*	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.2_Nonsense_Mutation_p.E259*	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	615	Protein kinase.				protein phosphorylation|Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		Esophageal Squamous(88;1120 1336 6324 10502 16832)				1488				0.363636	13.000333	13.178892	4	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25932628	25932628	8904	17	G	T	T	T	481	37	KSR1	5	1
LASP1	3927	broad.mit.edu	37	17	37071325	37071325	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37071325G>T	uc002hra.2	+	c.538G>T	c.(538-540)GCC>TCC	p.A180S	LASP1_uc010cvq.2_Missense_Mutation_p.W57C|LASP1_uc010wdz.1_Missense_Mutation_p.A124S	NM_006148	NP_006139	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	180						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding				0										114				0.160714	33.034822	45.269456	18	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37071325	37071325	8960	17	G	T	T	T	546	42	LASP1	2	2
KRT34	3885	broad.mit.edu	37	17	39538048	39538048	+	Splice_Site_SNP	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39538048C>T	uc002hwm.2	-	c.475_splice	c.e2-1	p.I159_splice		NM_021013	NP_066293			keratin 34						epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.372549	56.020798	56.744817	19	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	39538048	39538048	8786	17	C	T	T	T	416	32	KRT34	5	2
AOC2	314	broad.mit.edu	37	17	40996835	40996835	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40996835G>C	uc002ibu.2	+	c.192G>C	c.(190-192)TTG>TTC	p.L64F	AOC2_uc002ibt.2_Missense_Mutation_p.L64F	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	64					catecholamine metabolic process|oxidation-reduction process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)										0.211921	168.28141	191.414771	64	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40996835	40996835	737	17	G	C	C	C	581	45	AOC2	3	3
LRRC37A2	474170	broad.mit.edu	37	17	44626163	44626163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44626163C>T	uc002ikn.1	+	c.3658C>T	c.(3658-3660)CAG>TAG	p.Q1220*	ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Nonsense_Mutation_p.Q181*|LRRC37A2_uc010dax.1_Nonsense_Mutation_p.Q150*	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	c114 SLIT-like testicular protein precursor	1220	Extracellular (Potential).					integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)										0.125	19.157187	40.209869	19	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44626163	44626163	9367	17	C	T	T	T	221	17	LRRC37A2	5	2
PELP1	27043	broad.mit.edu	37	17	4576080	4576080	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4576080C>T	uc002fyi.3	-	c.2206G>A	c.(2206-2208)GAG>AAG	p.E736K	PELP1_uc010vsf.1_Missense_Mutation_p.E589K	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	736	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2														0.357143	13.470246	13.722244	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4576080	4576080	12146	17	C	T	T	T	377	29	PELP1	2	2
BZRAP1	9256	broad.mit.edu	37	17	56386289	56386289	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56386289C>A	uc002ivx.3	-	c.4344G>T	c.(4342-4344)GAG>GAT	p.E1448D	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.E1388D|BZRAP1_uc010wnt.1_Missense_Mutation_p.E1448D	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1448						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.444444	78.185245	78.355266	28	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56386289	56386289	1611	17	C	A	A	A	415	32	BZRAP1	2	2
EFCAB3	146779	broad.mit.edu	37	17	60484419	60484419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60484419C>A	uc010wpc.1	+	c.869C>A	c.(868-870)TCA>TAA	p.S290*	EFCAB3_uc002izu.1_Nonsense_Mutation_p.S238*	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform a	238							calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)											0.171717	30.180549	40.324442	17	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60484419	60484419	5122	17	C	A	A	A	377	29	EFCAB3	5	2
MAP3K3	4215	broad.mit.edu	37	17	61744398	61744398	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61744398C>T	uc002jbe.2	+	c.573C>T	c.(571-573)CCC>CCT	p.P191P	MAP3K3_uc002jbf.2_Silent_p.P191P|MAP3K3_uc002jbg.2_Silent_p.P160P|MAP3K3_uc002jbh.2_Silent_p.P191P|MAP3K3_uc010wpo.1_Silent_p.P75P|MAP3K3_uc010wpp.1_Silent_p.P160P	NM_203351	NP_976226	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	160					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|large_intestine(1)	4										183				0.226415	28.909713	32.525882	12	41	KEEP	---	---	---	---	capture		Silent	SNP	61744398	61744398	9634	17	C	T	T	T	262	21	MAP3K3	2	2
ABCA8	10351	broad.mit.edu	37	17	66928614	66928614	+	Silent	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66928614A>T	uc002jhq.2	-	c.612T>A	c.(610-612)GTT>GTA	p.V204V	ABCA8_uc002jhp.2_Silent_p.V204V|ABCA8_uc010wqq.1_Silent_p.V204V|ABCA8_uc010wqr.1_Silent_p.V143V|ABCA8_uc002jhr.2_Silent_p.V204V|ABCA8_uc002jhs.2_Silent_p.V204V|ABCA8_uc002jht.2_Silent_p.V204V	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	204						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.197531	35.351524	42.258362	16	65	KEEP	---	---	---	---	capture		Silent	SNP	66928614	66928614	39	17	A	T	T	T	158	13	ABCA8	3	3
TTYH2	94015	broad.mit.edu	37	17	72209803	72209803	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72209803G>C	uc002jkc.2	+	c.77G>C	c.(76-78)CGC>CCC	p.R26P	TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	26	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.214286	6.020167	7.078806	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72209803	72209803	17295	17	G	C	C	C	494	38	TTYH2	3	3
SEC14L1	6397	broad.mit.edu	37	17	75196674	75196674	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:75196674G>C	uc010dhc.2	+	c.928G>C	c.(928-930)GTA>CTA	p.V310L	SEC14L1_uc002jto.2_Missense_Mutation_p.V310L|SEC14L1_uc010wth.1_Missense_Mutation_p.V310L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V310L|SEC14L1_uc010wti.1_Missense_Mutation_p.V276L	NM_001039573	NP_001034662	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform b	310					transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2														0.454545	168.282313	168.457036	50	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75196674	75196674	14467	17	G	C	C	C	572	44	SEC14L1	3	3
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577568C>T	uc002gim.2	-	c.713G>A	c.(712-714)TGT>TAT	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.2_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	238	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(46)|p.C238F(28)|p.C238S(6)|p.0?(6)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.M237fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.C238S(LN18-Tumor)|p.C238Y(MC116-Tumor)|p.C238S(MOLM16-Tumor)|p.C238S(SNU626-Tumor)|p.C238fs(SW1417-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.46875	44.620763	44.647998	15	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577568	7577568	16923	17	C	T	T	T	221	17	TP53	2	2
ALOXE3	59344	broad.mit.edu	37	17	8012568	8012568	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8012568G>A	uc002gka.2	-	c.1954C>T	c.(1954-1956)CGG>TGG	p.R652W	ALOXE3_uc010cnr.2_Missense_Mutation_p.R496W|ALOXE3_uc010vuo.1_Missense_Mutation_p.R628W	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	496	Lipoxygenase.				leukotriene biosynthetic process|oxidation-reduction process		iron ion binding|lipoxygenase activity			lung(1)|central_nervous_system(1)	2														0.592593	49.565789	49.793797	16	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8012568	8012568	545	17	G	A	A	A	493	38	ALOXE3	1	1
KLHL14	57565	broad.mit.edu	37	18	30260371	30260371	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30260371C>A	uc002kxm.1	-	c.1429_splice	c.e6+1	p.G477_splice	KLHL14_uc010dmd.1_Missense_Mutation_p.A25S	NM_020805	NP_065856			kelch-like 14											ovary(1)	1														0.518248	219.52118	219.561051	71	66	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	30260371	30260371	8682	18	C	A	A	A	338	26	KLHL14	5	2
C18orf34	374864	broad.mit.edu	37	18	30806759	30806759	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30806759G>A	uc010xbr.1	-	c.1654C>T	c.(1654-1656)CAG>TAG	p.Q552*	C18orf34_uc010dme.1_Nonsense_Mutation_p.Q66*|C18orf34_uc002kxn.2_Nonsense_Mutation_p.Q552*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q552*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.Q552*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	552										ovary(1)	1														0.207547	25.506373	29.697998	11	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30806759	30806759	1963	18	G	A	A	A	585	45	C18orf34	5	2
C18orf34	374864	broad.mit.edu	37	18	30873253	30873253	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30873253C>A	uc010xbr.1	-	c.1046G>T	c.(1045-1047)AGT>ATT	p.S349I	C18orf34_uc002kxn.2_Missense_Mutation_p.S349I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S349I|C18orf34_uc002kxp.2_Missense_Mutation_p.S349I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	349	Potential.									ovary(1)	1														0.378378	43.060268	43.533072	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30873253	30873253	1963	18	C	A	A	A	260	20	C18orf34	2	2
ASXL3	80816	broad.mit.edu	37	18	31314323	31314324	+	Nonsense_Mutation	DNP	GG	CT	CT			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31314323_31314324GG>CT	uc010dmg.1	+	c.1026_1027GG>CT	c.(1024-1029)AAGGAA>AACTAA	p.342_343KE>N*	ASXL3_uc002kxq.2_Nonsense_Mutation_p.49_50KE>N*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	342_343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.333333	27.017606	27.595316	8	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	31314323	31314324	1087	18	GG	CT	CT	CT	451	35	ASXL3	5	3
ASXL3	80816	broad.mit.edu	37	18	31323015	31323015	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31323015G>T	uc010dmg.1	+	c.3203G>T	c.(3202-3204)CGA>CTA	p.R1068L	ASXL3_uc002kxq.2_Missense_Mutation_p.R775L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1068	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.45	29.074313	29.117533	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323015	31323015	1087	18	G	T	T	T	481	37	ASXL3	1	1
ASXL3	80816	broad.mit.edu	37	18	31324969	31324969	+	Silent	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31324969T>A	uc010dmg.1	+	c.5157T>A	c.(5155-5157)GCT>GCA	p.A1719A	ASXL3_uc002kxq.2_Silent_p.A1426A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.25	31.016887	34.005863	13	39	KEEP	---	---	---	---	capture		Silent	SNP	31324969	31324969	1087	18	T	A	A	A	678	53	ASXL3	3	3
TCEB3B	51224	broad.mit.edu	37	18	44561102	44561102	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:44561102G>T	uc002lcr.1	-	c.534C>A	c.(532-534)CTC>CTA	p.L178L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	178					transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding|transcription elongation regulator activity			ovary(2)|large_intestine(1)|pancreas(1)	4														0.382353	65.710277	66.542919	26	42	KEEP	---	---	---	---	capture		Silent	SNP	44561102	44561102	16208	18	G	T	T	T	522	41	TCEB3B	2	2
ME2	4200	broad.mit.edu	37	18	48439200	48439200	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48439200G>C	uc002ley.2	+	c.272G>C	c.(271-273)AGA>ACA	p.R91T	ME2_uc010dpd.2_Missense_Mutation_p.R91T	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	91		Allosteric activator.		R->T: Abolishes activation by fumarate.	malate metabolic process|oxidation-reduction process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)									0.19802	51.145489	59.71696	20	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48439200	48439200	9807	18	G	C	C	C	429	33	ME2	3	3
EPB41L3	23136	broad.mit.edu	37	18	5489094	5489094	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5489094C>A	uc002kmt.1	-	c.89G>T	c.(88-90)GGG>GTG	p.G30V	EPB41L3_uc010wzh.1_Missense_Mutation_p.G30V|EPB41L3_uc002kmu.1_Missense_Mutation_p.G30V|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.G52V|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	30					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.5	46.16431	46.16431	17	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5489094	5489094	5347	18	C	A	A	A	286	22	EPB41L3	2	2
BCL2	596	broad.mit.edu	37	18	60985525	60985525	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60985525G>A	uc002lit.1	-	c.375C>T	c.(373-375)ACC>ACT	p.T125T	BCL2_uc002liu.1_Silent_p.T125T|BCL2_uc002liv.1_Silent_p.T125T	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	125					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|transcription activator activity			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)					37				0.15	13.339735	20.414376	9	51	KEEP	---	---	---	---	capture		Silent	SNP	60985525	60985525	1386	18	G	A	A	A	496	39	BCL2	1	1
CDH19	28513	broad.mit.edu	37	18	64178894	64178894	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:64178894C>T	uc002lkc.1	-	c.1487G>A	c.(1486-1488)AGA>AAA	p.R496K	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	496	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.207792	41.158372	47.247133	16	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64178894	64178894	3233	18	C	T	T	T	416	32	CDH19	2	2
CBLN2	147381	broad.mit.edu	37	18	70209225	70209225	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70209225G>A	uc002lku.2	-	c.171C>T	c.(169-171)CCC>CCT	p.P57P	CBLN2_uc002lkv.2_Silent_p.P57P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	57						integral to membrane					0		Esophageal squamous(42;0.131)												0.277778	12.16547	12.966668	5	13	KEEP	---	---	---	---	capture		Silent	SNP	70209225	70209225	2824	18	G	A	A	A	600	47	CBLN2	2	2
SALL3	27164	broad.mit.edu	37	18	76753481	76753481	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:76753481T>G	uc002lmt.2	+	c.1490T>G	c.(1489-1491)ATC>AGC	p.I497S	SALL3_uc010dra.2_Missense_Mutation_p.I104S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)										0.619048	41.273309	41.533171	13	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76753481	76753481	14292	18	T	G	G	G	650	50	SALL3	4	4
CTDP1	9150	broad.mit.edu	37	18	77455253	77455253	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77455253A>T	uc002lnh.1	+	c.343A>T	c.(343-345)AGC>TGC	p.S115C	CTDP1_uc002lni.1_Missense_Mutation_p.S115C|CTDP1_uc010drd.1_Missense_Mutation_p.S115C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	115					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)										0.482759	44.846953	44.854487	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77455253	77455253	4161	18	A	T	T	T	91	7	CTDP1	3	3
ICAM5	7087	broad.mit.edu	37	19	10402220	10402220	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10402220G>A	uc002mnu.3	+	c.408G>A	c.(406-408)GAG>GAA	p.E136E	ICAM5_uc002mnv.3_Silent_p.E11E	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	136	Extracellular (Potential).|Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)											0.229008	71.41272	80.215669	30	101	KEEP	---	---	---	---	capture		Silent	SNP	10402220	10402220	7783	19	G	A	A	A	425	33	ICAM5	2	2
ABCA7	10347	broad.mit.edu	37	19	1061853	1061853	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1061853G>C	uc002lqw.3	+	c.5536G>C	c.(5536-5538)GCC>CCC	p.A1846P	ABCA7_uc002lqy.2_Missense_Mutation_p.A299P|ABCA7_uc010dsc.2_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1846	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.2	12.76354	14.853827	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1061853	1061853	38	19	G	C	C	C	546	42	ABCA7	3	3
ZNF823	55552	broad.mit.edu	37	19	11833307	11833307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11833307G>A	uc002msm.2	-	c.1042C>T	c.(1042-1044)CGA>TGA	p.R348*	ZNF823_uc010xmd.1_Nonsense_Mutation_p.R166*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R304*	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	348	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.302083	78.120837	81.490499	29	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11833307	11833307	18777	19	G	A	A	A	480	37	ZNF823	5	1
CYP4F11	57834	broad.mit.edu	37	19	16025572	16025572	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16025572C>A	uc002nbu.2	-	c.1249G>T	c.(1249-1251)GGC>TGC	p.G417C	CYP4F11_uc010eab.1_Missense_Mutation_p.G417C|CYP4F11_uc002nbt.2_Missense_Mutation_p.G417C	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	417					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.769231	161.696707	166.137019	50	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16025572	16025572	4351	19	C	A	A	A	312	24	CYP4F11	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769592	31769592	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769592C>T	uc002nsy.3	-	c.1107G>A	c.(1105-1107)CAG>CAA	p.Q369Q		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	369					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.067114	-7.054921	21.861153	10	139	KEEP	---	---	---	---	capture		Silent	SNP	31769592	31769592	17176	19	C	T	T	T	415	32	TSHZ3	2	2
C19orf29	58509	broad.mit.edu	37	19	3611929	3611929	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3611929G>A	uc002lyh.2	-	c.2269C>T	c.(2269-2271)CGG>TGG	p.R757W	C19orf29_uc010xho.1_Missense_Mutation_p.R216W|C19orf29_uc010dtn.2_Missense_Mutation_p.R605W|C19orf29_uc002lyi.3_Missense_Mutation_p.R757W|C19orf29_uc010dto.2_Non-coding_Transcript	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	757					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)										0.315789	16.348237	16.919	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3611929	3611929	1981	19	G	A	A	A	480	37	C19orf29	1	1
KIRREL2	84063	broad.mit.edu	37	19	36350469	36350469	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36350469C>T	uc002ocb.3	+	c.609C>T	c.(607-609)GTC>GTT	p.V203V	KIRREL2_uc002obz.3_Silent_p.V203V|KIRREL2_uc002oca.3_Silent_p.V153V|KIRREL2_uc002occ.3_Silent_p.V150V|KIRREL2_uc002ocd.3_Silent_p.V200V	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	203	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.207792	38.482061	44.554906	16	61	KEEP	---	---	---	---	capture		Silent	SNP	36350469	36350469	8637	19	C	T	T	T	405	32	KIRREL2	2	2
ANKRD24	170961	broad.mit.edu	37	19	4207248	4207248	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4207248G>T	uc010dtt.1	+	c.476G>T	c.(475-477)GGC>GTC	p.G159V	ANKRD24_uc002lzs.2_Missense_Mutation_p.G130V|ANKRD24_uc002lzt.2_Missense_Mutation_p.G131V	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	159	ANK 3.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)								OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.555556	29.128029	29.174031	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4207248	4207248	658	19	G	T	T	T	546	42	ANKRD24	2	2
PSG5	5673	broad.mit.edu	37	19	43680272	43680272	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43680272G>T	uc002ovv.2	-	c.738C>A	c.(736-738)ATC>ATA	p.I246I	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovu.2_Silent_p.I153I|PSG5_uc002ovx.2_Silent_p.I153I|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	153	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.679803	445.849725	451.658673	138	65	KEEP	---	---	---	---	capture		Silent	SNP	43680272	43680272	13111	19	G	T	T	T	577	45	PSG5	2	2
ZNF221	7638	broad.mit.edu	37	19	44471324	44471325	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44471324_44471325GG>TT	uc002oxx.2	+	c.1670_1671GG>TT	c.(1669-1671)GGG>GTT	p.G557V	ZNF221_uc010ejb.1_Missense_Mutation_p.G557V|ZNF221_uc010xws.1_Missense_Mutation_p.G557V	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.378378	38.180472	38.680954	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	44471324	44471325	18366	19	GG	TT	TT	TT	559	43	ZNF221	2	2
ZNF234	10780	broad.mit.edu	37	19	44661190	44661190	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44661190G>C	uc002oym.2	+	c.1021G>C	c.(1021-1023)GAG>CAG	p.E341Q	ZNF234_uc002oyl.3_Missense_Mutation_p.E341Q	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)												0.264151	40.927873	43.592591	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44661190	44661190	18378	19	G	C	C	C	429	33	ZNF234	3	3
AP2A1	160	broad.mit.edu	37	19	50309968	50309968	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50309968G>C	uc002ppn.2	+	c.2887G>C	c.(2887-2889)GAG>CAG	p.E963Q	AP2A1_uc002ppo.2_Missense_Mutation_p.E941Q|AP2A1_uc010enk.2_Missense_Mutation_p.E94Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	963				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)										0.081633	1.08292	9.796037	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50309968	50309968	749	19	G	C	C	C	533	41	AP2A1	3	3
KLK13	26085	broad.mit.edu	37	19	51563277	51563277	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51563277G>T	uc002pvn.2	-	c.313C>A	c.(313-315)CAC>AAC	p.H105N	KLK13_uc002pvl.2_Intron|KLK13_uc002pvm.2_Non-coding_Transcript|KLK13_uc002pvo.2_Intron|KLK13_uc002pvp.2_Non-coding_Transcript|KLK13_uc010eon.2_Intron|KLK13_uc002pvq.2_Intron|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.H105N	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	105	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)										0.636364	135.363729	136.443886	42	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51563277	51563277	8715	19	G	T	T	T	611	47	KLK13	2	2
CCDC106	29903	broad.mit.edu	37	19	56163807	56163807	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56163807G>T	uc002qlr.2	+	c.538G>T	c.(538-540)GAC>TAC	p.D180Y	CCDC106_uc002qls.2_Missense_Mutation_p.D180Y|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	180						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)										0.655172	62.733391	63.35268	19	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56163807	56163807	2861	19	G	T	T	T	481	37	CCDC106	1	1
MUC16	94025	broad.mit.edu	37	19	9090220	9090220	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9090220T>A	uc002mkp.2	-	c.1595A>T	c.(1594-1596)CAG>CTG	p.Q532L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	532	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														0.678571	66.934589	67.727501	19	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9090220	9090220	10367	19	T	A	A	A	715	55	MUC16	3	3
OR1M1	125963	broad.mit.edu	37	19	9204055	9204055	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9204055C>T	uc010xkj.1	+	c.135C>T	c.(133-135)ATC>ATT	p.I45I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.212766	23.823526	27.407327	10	37	KEEP	---	---	---	---	capture		Silent	SNP	9204055	9204055	11374	19	C	T	T	T	369	29	OR1M1	2	2
CELSR2	1952	broad.mit.edu	37	1	109815340	109815340	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109815340C>A	uc001dxa.3	+	c.8133C>A	c.(8131-8133)GAC>GAA	p.D2711E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2711	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.244898	32.275972	35.180324	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109815340	109815340	3355	1	C	A	A	A	233	18	CELSR2	2	2
KCNC4	3749	broad.mit.edu	37	1	110766518	110766518	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110766518G>T	uc009wfr.2	+	c.1611G>T	c.(1609-1611)CGG>CGT	p.R537R	KCNC4_uc001dzf.2_Silent_p.R537R|KCNC4_uc001dzg.2_Silent_p.R537R|KCNC4_uc001dzh.2_Silent_p.R537R|KCNC4_uc001dzi.2_Non-coding_Transcript	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	537	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)										0.365854	45.213603	45.862662	15	26	KEEP	---	---	---	---	capture		Silent	SNP	110766518	110766518	8322	1	G	T	T	T	548	43	KCNC4	2	2
HIPK1	204851	broad.mit.edu	37	1	114499818	114499818	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114499818C>G	uc001eem.2	+	c.1665C>G	c.(1663-1665)ATC>ATG	p.I555M	HIPK1_uc001eel.2_Missense_Mutation_p.I555M|HIPK1_uc001een.2_Missense_Mutation_p.I555M|HIPK1_uc001eeo.2_Missense_Mutation_p.I181M|HIPK1_uc001eep.2_Missense_Mutation_p.I161M	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	555					protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)						365				0.126437	16.86312	28.722667	11	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114499818	114499818	7401	1	C	G	G	G	369	29	HIPK1	3	3
CLCN6	1185	broad.mit.edu	37	1	11867212	11867212	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11867212G>A	uc001ate.3	+	c.112G>A	c.(112-114)GAG>AAG	p.E38K	MTHFR_uc001atc.1_5'Flank|MTHFR_uc001atd.1_5'Flank|MTHFR_uc009vnd.1_5'Flank|CLCN6_uc009vne.1_Missense_Mutation_p.E38K|CLCN6_uc009vnf.1_Missense_Mutation_p.E38K|CLCN6_uc009vng.1_Missense_Mutation_p.E38K|CLCN6_uc009vnh.1_Missense_Mutation_p.E38K|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.E38K	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	38	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)										0.214286	15.136124	17.245507	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11867212	11867212	3603	1	G	A	A	A	533	41	CLCN6	2	2
VPS13D	55187	broad.mit.edu	37	1	12331089	12331089	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12331089G>A	uc001atv.2	+	c.2011G>A	c.(2011-2013)GAA>AAA	p.E671K	VPS13D_uc001atw.2_Missense_Mutation_p.E671K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	671					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.090909	1.945549	11.214757	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12331089	12331089	17759	1	G	A	A	A	585	45	VPS13D	2	2
FLG	2312	broad.mit.edu	37	1	152282032	152282032	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152282032G>T	uc001ezu.1	-	c.5330C>A	c.(5329-5331)TCC>TAC	p.S1777Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1777	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)											0.330789	332.771886	342.716424	130	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152282032	152282032	6160	1	G	T	T	T	533	41	FLG	2	2
PAQR6	79957	broad.mit.edu	37	1	156214604	156214604	+	Silent	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156214604G>C	uc001fnw.1	-	c.390C>G	c.(388-390)CTC>CTG	p.L130L	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Missense_Mutation_p.S14C|PAQR6_uc001fnv.1_Silent_p.L212L|PAQR6_uc010phg.1_Silent_p.L233L|PAQR6_uc001fnx.1_Silent_p.L130L|PAQR6_uc001fnz.1_Silent_p.L130L|PAQR6_uc010phh.1_Silent_p.L236L|PAQR6_uc001foa.1_Silent_p.L130L|PAQR6_uc001fob.1_Non-coding_Transcript|PAQR6_uc001fnu.1_Silent_p.L236L	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	236	Helical; (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					GBM(16;219 398 12385 32425 38531)								0.136986	13.988734	23.372106	10	63	KEEP	---	---	---	---	capture		Silent	SNP	156214604	156214604	11856	1	G	C	C	C	418	33	PAQR6	3	3
BCAN	63827	broad.mit.edu	37	1	156622224	156622224	+	Silent	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156622224T>A	uc001fpp.2	+	c.1482T>A	c.(1480-1482)TCT>TCA	p.S494S	BCAN_uc001fpo.2_Silent_p.S494S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	494					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.45	26.972216	27.015811	9	11	KEEP	---	---	---	---	capture		Silent	SNP	156622224	156622224	1366	1	T	A	A	A	691	54	BCAN	3	3
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157557276C>G	uc001fqw.2	-	c.637G>C	c.(637-639)GAA>CAA	p.E213Q	FCRL4_uc010phy.1_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	213	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)	3	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)								315				0.153846	64.704979	88.705302	32	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157557276	157557276	6034	1	C	G	G	G	377	29	FCRL4	3	3
KIRREL	55243	broad.mit.edu	37	1	158059508	158059508	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158059508G>T	uc001frn.3	+	c.1172G>T	c.(1171-1173)GGG>GTG	p.G391V	KIRREL_uc010pib.1_Missense_Mutation_p.G291V|KIRREL_uc009wsq.2_Missense_Mutation_p.G227V|KIRREL_uc001fro.3_Missense_Mutation_p.G205V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	391	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)													0.442478	138.681523	139.01411	50	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158059508	158059508	8636	1	G	T	T	T	559	43	KIRREL	2	2
OR10R2	343406	broad.mit.edu	37	1	158450321	158450321	+	Silent	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450321G>C	uc010pik.1	+	c.654G>C	c.(652-654)GTG>GTC	p.V218V		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	218	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.139785	42.680638	66.01027	26	160	KEEP	---	---	---	---	capture		Silent	SNP	158450321	158450321	11323	1	G	C	C	C	574	45	OR10R2	3	3
SPTA1	6708	broad.mit.edu	37	1	158627313	158627313	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158627313G>A	uc001fst.1	-	c.2759C>T	c.(2758-2760)CCT>CTT	p.P920L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	920	Spectrin 10.				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)													0.145161	51.445416	73.93617	27	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158627313	158627313	15630	1	G	A	A	A	455	35	SPTA1	2	2
CADM3	57863	broad.mit.edu	37	1	159170655	159170655	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159170655C>T	uc001ftk.2	+	c.1242C>T	c.(1240-1242)ATC>ATT	p.I414I	CADM3_uc001ftl.2_Silent_p.I380I	NM_021189	NP_067012	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 1	380	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)													0.128713	16.903003	30.469345	13	88	KEEP	---	---	---	---	capture		Silent	SNP	159170655	159170655	2684	1	C	T	T	T	369	29	CADM3	2	2
ATP1A2	477	broad.mit.edu	37	1	160106720	160106720	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160106720C>T	uc001fvc.2	+	c.2739C>T	c.(2737-2739)TTC>TTT	p.F913F	ATP1A2_uc001fvb.2_Silent_p.F913F|ATP1A2_uc001fvd.2_Silent_p.F632F	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	913	Extracellular (Potential).				ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.163793	66.22027	91.126757	38	194	KEEP	---	---	---	---	capture		Silent	SNP	160106720	160106720	1148	1	C	T	T	T	376	29	ATP1A2	2	2
USP21	27005	broad.mit.edu	37	1	161130616	161130616	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161130616G>T	uc010pke.1	+	c.186G>T	c.(184-186)CGG>CGT	p.R62R	USP21_uc010pkc.1_Silent_p.R62R|USP21_uc010pkd.1_Silent_p.R62R|USP21_uc010pkf.1_Silent_p.R62R	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	62					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)	2	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.384615	115.603164	116.806635	40	64	KEEP	---	---	---	---	capture		Silent	SNP	161130616	161130616	17616	1	G	T	T	T	535	42	USP21	2	2
C1orf105	92346	broad.mit.edu	37	1	172425554	172425554	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:172425554G>T	uc001gik.2	+	c.199_splice	c.e4-1	p.A67_splice		NM_139240	NP_640333			hypothetical protein LOC92346												0														0.409091	157.417197	158.372177	54	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	172425554	172425554	2046	1	G	T	T	T	455	35	C1orf105	5	2
TNR	7143	broad.mit.edu	37	1	175372452	175372452	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175372452G>A	uc001gkp.1	-	c.800C>T	c.(799-801)CCT>CTT	p.P267L	TNR_uc009wwu.1_Missense_Mutation_p.P267L|TNR_uc010pmz.1_Missense_Mutation_p.P267L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	267	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.369231	69.570162	70.55171	24	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175372452	175372452	16879	1	G	A	A	A	455	35	TNR	2	2
PAPPA2	60676	broad.mit.edu	37	1	176762727	176762727	+	Silent	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176762727C>G	uc001gkz.2	+	c.5052C>G	c.(5050-5052)CCC>CCG	p.P1684P	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.372881	62.020177	62.862703	22	37	KEEP	---	---	---	---	capture		Silent	SNP	176762727	176762727	11850	1	C	G	G	G	275	22	PAPPA2	3	3
FAM5C	339479	broad.mit.edu	37	1	190068088	190068088	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190068088G>T	uc001gse.1	-	c.1361C>A	c.(1360-1362)CCA>CAA	p.P454Q	FAM5C_uc010pot.1_Missense_Mutation_p.P352Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	454						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.27	68.181472	72.959802	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190068088	190068088	5817	1	G	T	T	T	611	47	FAM5C	2	2
PPFIA4	8497	broad.mit.edu	37	1	203026012	203026012	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203026012C>G	uc010pqf.1	+	c.1462C>G	c.(1462-1464)CGC>GGC	p.R488G	PPFIA4_uc009xaj.2_Missense_Mutation_p.R906G|PPFIA4_uc001gyz.2_Missense_Mutation_p.R275G|PPFIA4_uc001gza.2_Missense_Mutation_p.R275G|PPFIA4_uc001gzb.1_5'UTR	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	275					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.545455	89.742668	89.840807	30	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203026012	203026012	12742	1	C	G	G	G	299	23	PPFIA4	3	3
PROX1	5629	broad.mit.edu	37	1	214171068	214171068	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214171068G>T	uc001hkh.2	+	c.1190G>T	c.(1189-1191)GGG>GTG	p.G397V	PROX1_uc001hkg.1_Missense_Mutation_p.G397V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	397					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of gene-specific transcription|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulator activity			ovary(3)|lung(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)										0.277228	65.48853	69.984791	28	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214171068	214171068	13003	1	G	T	T	T	559	43	PROX1	2	2
RAP1GAP	5909	broad.mit.edu	37	1	21944462	21944462	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21944462C>G	uc001bev.2	-	c.70G>C	c.(70-72)GAG>CAG	p.E24Q	RAP1GAP_uc001bew.2_Missense_Mutation_p.E88Q|RAP1GAP_uc001bey.2_Missense_Mutation_p.E24Q|RAP1GAP_uc001bex.2_Missense_Mutation_p.E24Q|RAP1GAP_uc001bez.1_Missense_Mutation_p.E55Q	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform b	24					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)										0.218182	27.198008	31.317754	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21944462	21944462	13497	1	C	G	G	G	416	32	RAP1GAP	3	3
TARBP1	6894	broad.mit.edu	37	1	234529116	234529116	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234529116G>C	uc001hwd.2	-	c.4552C>G	c.(4552-4554)CTA>GTA	p.L1518V		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1518					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)											0.219512	24.655757	27.624434	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234529116	234529116	16076	1	G	C	C	C	425	33	TARBP1	3	3
ARID4B	51742	broad.mit.edu	37	1	235377133	235377133	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235377133C>A	uc001hwq.2	-	c.1792G>T	c.(1792-1794)GAA>TAA	p.E598*	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E279*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	598					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	chromatin binding|DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)											0.352941	133.867267	136.456558	48	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	235377133	235377133	935	1	C	A	A	A	403	31	ARID4B	5	1
ARID4B	51742	broad.mit.edu	37	1	235418974	235418975	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235418974_235418975CC>AA	uc001hwq.2	-	c.274_splice	c.e5+1	p.V92_splice	ARID4B_uc001hwr.2_Splice_Site_DNP_p.V92_splice|ARID4B_uc001hws.3_Splice_Site_DNP_p.V92_splice|ARID4B_uc001hwu.1_Splice_Site_DNP_p.V92_splice	NM_016374	NP_057458			AT rich interactive domain 4B isoform 1						chromatin assembly or disassembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	chromatin binding|DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)											0.548387	58.178586	58.241932	17	14	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	235418974	235418975	935	1	CC	AA	AA	AA	234	18	ARID4B	5	2
LYST	1130	broad.mit.edu	37	1	235969806	235969806	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235969806C>A	uc001hxj.2	-	c.2630G>T	c.(2629-2631)GGC>GTC	p.G877V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.G877V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	877					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.303797	123.799814	129.255257	48	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235969806	235969806	9505	1	C	A	A	A	338	26	LYST	2	2
ZNF436	80818	broad.mit.edu	37	1	23688970	23688970	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23688970C>A	uc001bgt.2	-	c.905G>T	c.(904-906)GGG>GTG	p.G302V	ZNF436_uc001bgu.2_Missense_Mutation_p.G302V	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)										0.537634	161.05756	161.172458	50	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23688970	23688970	18502	1	C	A	A	A	286	22	ZNF436	2	2
PLCH2	9651	broad.mit.edu	37	1	2419131	2419131	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2419131C>T	uc001aji.1	+	c.1209C>T	c.(1207-1209)ATC>ATT	p.I403I	PLCH2_uc010nyz.1_Silent_p.I191I|PLCH2_uc009vle.1_Silent_p.I191I|PLCH2_uc001ajj.1_Silent_p.I191I|PLCH2_uc001ajk.1_Silent_p.I191I	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	403	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)										0.366667	31.915113	32.384816	11	19	KEEP	---	---	---	---	capture		Silent	SNP	2419131	2419131	12464	1	C	T	T	T	369	29	PLCH2	2	2
OR2G3	81469	broad.mit.edu	37	1	247769413	247769413	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769413C>A	uc010pyz.1	+	c.526C>A	c.(526-528)CAT>AAT	p.H176N		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	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)											0.368932	111.700417	113.263199	38	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247769413	247769413	11405	1	C	A	A	A	273	21	OR2G3	2	2
OR2M5	127059	broad.mit.edu	37	1	248308469	248308469	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248308469C>A	uc010pze.1	+	c.20C>A	c.(19-21)ACC>AAC	p.T7N		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.334728	238.861991	244.673825	80	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248308469	248308469	11419	1	C	A	A	A	234	18	OR2M5	2	2
OR2T6	254879	broad.mit.edu	37	1	248550931	248550931	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248550931T>A	uc001iei.1	+	c.22T>A	c.(22-24)TTG>ATG	p.L8M		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	8	Extracellular (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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.344086	93.869975	95.867642	32	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248550931	248550931	11435	1	T	A	A	A	725	56	OR2T6	3	3
OR2T3	343173	broad.mit.edu	37	1	248637272	248637272	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637272C>A	uc001iel.1	+	c.621C>A	c.(619-621)TGC>TGA	p.C207*		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.388393	252.358815	254.806597	87	137	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248637272	248637272	11429	1	C	A	A	A	363	28	OR2T3	5	2
MAN1C1	57134	broad.mit.edu	37	1	26110248	26110248	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26110248G>A	uc001bkm.2	+	c.1861G>A	c.(1861-1863)GAC>AAC	p.D621N	MAN1C1_uc009vry.1_Missense_Mutation_p.D441N|MAN1C1_uc001bkn.2_Missense_Mutation_p.D92N	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	621	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)										0.22449	24.911883	28.321749	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26110248	26110248	9596	1	G	A	A	A	429	33	MAN1C1	2	2
WDTC1	23038	broad.mit.edu	37	1	27609887	27609887	+	Missense_Mutation	SNP	A	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27609887A>C	uc009vst.2	+	c.238A>C	c.(238-240)AAG>CAG	p.K80Q	WDTC1_uc001bno.2_Missense_Mutation_p.K80Q|WDTC1_uc001bnp.1_Non-coding_Transcript	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	80	WD 1.						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)										0.446429	86.274045	86.412962	25	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27609887	27609887	17916	1	A	C	C	C	65	5	WDTC1	4	4
CSMD2	114784	broad.mit.edu	37	1	34180307	34180307	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34180307C>T	uc001bxm.1	-	c.3286G>A	c.(3286-3288)GGC>AGC	p.G1096S	CSMD2_uc001bxn.1_Missense_Mutation_p.G1056S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1056	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.247312	53.292362	58.68887	23	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34180307	34180307	4086	1	C	T	T	T	273	21	CSMD2	2	2
GRIK3	2899	broad.mit.edu	37	1	37356600	37356600	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37356600C>T	uc001caz.2	-	c.213G>A	c.(211-213)AGG>AGA	p.R71R	GRIK3_uc001cba.1_Silent_p.R71R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	71	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.218978	66.821703	76.780998	30	107	KEEP	---	---	---	---	capture		Silent	SNP	37356600	37356600	7054	1	C	T	T	T	389	30	GRIK3	2	2
MACF1	23499	broad.mit.edu	37	1	39853098	39853098	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39853098C>G	uc010oiu.1	+	c.9904C>G	c.(9904-9906)CTT>GTT	p.L3302V	MACF1_uc010ois.1_Missense_Mutation_p.L2800V|MACF1_uc001cda.1_Missense_Mutation_p.L2687V|MACF1_uc001cdc.1_Missense_Mutation_p.L1866V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2800	Spectrin 16.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.222892	99.351261	111.027895	37	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39853098	39853098	9521	1	C	G	G	G	416	32	MACF1	3	3
CDC20	991	broad.mit.edu	37	1	43825017	43825017	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43825017G>T	uc001cix.2	+	c.131G>T	c.(130-132)CGG>CTG	p.R44L	CDC20_uc001ciy.2_Missense_Mutation_p.R44L	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	44					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				Esophageal Squamous(137;1154 1759 10362 10401 46925)								0.4	47.360026	47.688062	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43825017	43825017	3187	1	G	T	T	T	507	39	CDC20	1	1
PLEKHG5	57449	broad.mit.edu	37	1	6531112	6531112	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6531112C>A	uc001anp.1	-	c.1561G>T	c.(1561-1563)GGC>TGC	p.G521C	PLEKHG5_uc001ann.1_Missense_Mutation_p.G481C|PLEKHG5_uc001ano.1_Missense_Mutation_p.G500C|PLEKHG5_uc001anq.1_Missense_Mutation_p.G521C|PLEKHG5_uc001anj.1_Missense_Mutation_p.G5C|PLEKHG5_uc009vma.1_Missense_Mutation_p.G284C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.G513C|PLEKHG5_uc001ank.1_Missense_Mutation_p.G444C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.G444C|PLEKHG5_uc001anl.1_Missense_Mutation_p.G444C|PLEKHG5_uc001anm.1_Missense_Mutation_p.G444C|PLEKHG5_uc001anr.1_5'Flank	NM_198681	NP_941374	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	500	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)										0.428571	8.923708	8.954899	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6531112	6531112	12499	1	C	A	A	A	286	22	PLEKHG5	2	2
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65855119G>A	uc001dce.1	+	c.1374G>A	c.(1372-1374)ACG>ACA	p.T458T	DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc001dcd.1_Silent_p.T401T|DNAJC6_uc010opc.1_Silent_p.T388T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.214286	19.132482	22.24796	9	33	KEEP	---	---	---	---	capture		Silent	SNP	65855119	65855119	4836	1	G	A	A	A	483	38	DNAJC6	1	1
LEPR	3953	broad.mit.edu	37	1	66067113	66067113	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66067113G>T	uc001dci.2	+	c.1033G>T	c.(1033-1035)GGG>TGG	p.G345W	LEPR_uc001dcg.2_Missense_Mutation_p.G345W|LEPR_uc001dch.2_Missense_Mutation_p.G345W|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G345W|LEPR_uc001dck.2_Missense_Mutation_p.G345W	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	345	Extracellular (Potential).|Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.394366	84.288588	84.980364	28	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66067113	66067113	9052	1	G	T	T	T	611	47	LEPR	2	2
IL12RB2	3595	broad.mit.edu	37	1	67787401	67787401	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67787401C>G	uc001ddu.2	+	c.193C>G	c.(193-195)CGT>GGT	p.R65G	IL12RB2_uc010oqi.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqj.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqk.1_Non-coding_Transcript|IL12RB2_uc010oql.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqm.1_Missense_Mutation_p.R65G|IL12RB2_uc010oqn.1_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	65	Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.242187	86.978663	94.728408	31	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67787401	67787401	7928	1	C	G	G	G	247	19	IL12RB2	3	3
LRRC7	57554	broad.mit.edu	37	1	70503915	70503915	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70503915C>A	uc001dep.2	+	c.2294C>A	c.(2293-2295)ACT>AAT	p.T765N	LRRC7_uc009wbg.2_Missense_Mutation_p.T49N|LRRC7_uc001deq.2_Missense_Mutation_p.T6N	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	765						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.234848	75.00941	83.553542	31	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70503915	70503915	9396	1	C	A	A	A	260	20	LRRC7	2	2
UTS2	10911	broad.mit.edu	37	1	7912986	7912986	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7912986G>A	uc001aoq.2	-	c.78C>T	c.(76-78)TCC>TCT	p.S26S	UTS2_uc001aor.2_Silent_p.S26S|UTS2_uc001aos.2_Intron	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	26					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)										0.191176	28.934396	34.996454	13	55	KEEP	---	---	---	---	capture		Silent	SNP	7912986	7912986	17669	1	G	A	A	A	600	47	UTS2	2	2
PIK3CD	5293	broad.mit.edu	37	1	9780180	9780180	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9780180C>T	uc001aqe.3	+	c.1245C>T	c.(1243-1245)GGC>GGT	p.G415G	PIK3CD_uc001aqb.3_Silent_p.G450G|PIK3CD_uc010oaf.1_Silent_p.G450G	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	450					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)						859				0.338983	54.093173	55.440052	20	39	KEEP	---	---	---	---	capture		Silent	SNP	9780180	9780180	12339	1	C	T	T	T	340	27	PIK3CD	1	1
SNX7	51375	broad.mit.edu	37	1	99156718	99156718	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99156718G>C	uc010ouc.1	+	c.451G>C	c.(451-453)GCA>CCA	p.A151P	SNX7_uc001dsa.2_Missense_Mutation_p.A87P|SNX7_uc010oud.1_Missense_Mutation_p.A151P	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a	87	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)	2		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)										0.314286	27.506024	28.583931	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99156718	99156718	15407	1	G	C	C	C	442	34	SNX7	3	3
PCSK2	5126	broad.mit.edu	37	20	17446099	17446099	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:17446099A>G	uc002wpm.2	+	c.1331A>G	c.(1330-1332)TAC>TGC	p.Y444C	PCSK2_uc002wpl.2_Missense_Mutation_p.Y425C|PCSK2_uc010zrm.1_Missense_Mutation_p.Y409C|PCSK2_uc002wpn.2_Missense_Mutation_p.Y98C	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	444					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.428571	18.748038	18.810228	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17446099	17446099	12022	20	A	G	G	G	182	14	PCSK2	4	4
XKR7	343702	broad.mit.edu	37	20	30584765	30584765	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30584765C>T	uc002wxe.2	+	c.1245C>T	c.(1243-1245)CTC>CTT	p.L415L		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	415	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.166667	19.881139	26.837145	11	55	KEEP	---	---	---	---	capture		Silent	SNP	30584765	30584765	18017	20	C	T	T	T	366	29	XKR7	2	2
SLC12A5	57468	broad.mit.edu	37	20	44676138	44676138	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44676138C>T	uc010zxl.1	+	c.1902C>T	c.(1900-1902)TTC>TTT	p.F634F	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.F611F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	634	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.067416	-10.71461	23.785085	12	166	KEEP	---	---	---	---	capture		Silent	SNP	44676138	44676138	14881	20	C	T	T	T	376	29	SLC12A5	2	2
TSHZ2	128553	broad.mit.edu	37	20	51872733	51872733	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51872733G>T	uc002xwo.2	+	c.2736G>T	c.(2734-2736)GGG>GGT	p.G912G		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	912					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.19697	24.930934	30.587246	13	53	KEEP	---	---	---	---	capture		Silent	SNP	51872733	51872733	17175	20	G	T	T	T	522	41	TSHZ2	2	2
BCAS1	8537	broad.mit.edu	37	20	52561526	52561526	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52561526G>A	uc002xws.2	-	c.1690C>T	c.(1690-1692)CGG>TGG	p.R564W	BCAS1_uc010zza.1_Missense_Mutation_p.R230W|BCAS1_uc010zzb.1_Missense_Mutation_p.R490W|BCAS1_uc010gim.2_Missense_Mutation_p.R420W|BCAS1_uc002xwt.2_Missense_Mutation_p.R550W|BCAS1_uc010gil.1_Missense_Mutation_p.R486W	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	564						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.152439	37.696026	56.645625	25	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52561526	52561526	1371	20	G	A	A	A	493	38	BCAS1	1	1
COL9A3	1299	broad.mit.edu	37	20	61461022	61461023	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61461022_61461023CC>AA	uc002ydm.2	+	c.1096_1097CC>AA	c.(1096-1098)CCA>AAA	p.P366K		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	366	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.625	16.877052	16.986868	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	61461022	61461023	3847	20	CC	AA	AA	AA	338	26	COL9A3	2	2
ARFGAP1	55738	broad.mit.edu	37	20	61907553	61907553	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61907553G>T	uc002yel.2	+	c.170_splice	c.e3+1	p.S57_splice	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_Splice_Site_SNP|ARFGAP1_uc002yem.2_Splice_Site_SNP_p.S57_splice|ARFGAP1_uc002yen.2_Splice_Site_SNP_p.S57_splice	NM_175609	NP_783202			ADP-ribosylation factor GTPase activating						COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)													0.493151	114.295408	114.29835	36	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	61907553	61907553	860	20	G	T	T	T	572	44	ARFGAP1	5	2
KCNQ2	3785	broad.mit.edu	37	20	62046380	62046380	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62046380G>T	uc002yey.1	-	c.1401C>A	c.(1399-1401)CCC>CCA	p.P467P	KCNQ2_uc002yez.1_Silent_p.P437P|KCNQ2_uc002yfa.1_Silent_p.P449P|KCNQ2_uc002yfb.1_Silent_p.P439P	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	467	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.640625	123.054909	124.161108	41	23	KEEP	---	---	---	---	capture		Silent	SNP	62046380	62046380	8388	20	G	T	T	T	600	47	KCNQ2	2	2
HAO1	54363	broad.mit.edu	37	20	7920967	7920967	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:7920967C>A	uc002wmw.1	-	c.103G>T	c.(103-105)GAA>TAA	p.E35*	HAO1_uc010gbu.2_Nonsense_Mutation_p.E35*	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	35	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3														0.642857	58.456897	58.9601	18	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7920967	7920967	7233	20	C	A	A	A	416	32	HAO1	5	2
MRPL39	54148	broad.mit.edu	37	21	26966223	26966223	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:26966223C>G	uc002yln.2	-	c.749G>C	c.(748-750)AGA>ACA	p.R250T	MRPL39_uc002ylo.2_Missense_Mutation_p.R250T	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform b	250						mitochondrial ribosome	nucleotide binding				0														0.084337	4.462914	19.016756	7	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26966223	26966223	10195	21	C	G	G	G	416	32	MRPL39	3	3
KRTAP6-1	337966	broad.mit.edu	37	21	31986171	31986171	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31986171C>A	uc002yop.2	-	c.53G>T	c.(52-54)TGT>TTT	p.C18F	KRTAP20-1_uc011ade.1_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	18						cytosol|intermediate filament					0														0.251969	82.128454	89.235864	32	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31986171	31986171	8891	21	C	A	A	A	221	17	KRTAP6-1	2	2
TIAM1	7074	broad.mit.edu	37	21	32526612	32526612	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32526612G>T	uc002yow.1	-	c.3124C>A	c.(3124-3126)CGC>AGC	p.R1042S	TIAM1_uc011adk.1_Missense_Mutation_p.R1042S|TIAM1_uc011adl.1_Missense_Mutation_p.R982S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1042	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.414634	108.64197	109.161356	34	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32526612	32526612	16418	21	G	T	T	T	494	38	TIAM1	1	1
DSCAM	1826	broad.mit.edu	37	21	41560998	41560998	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41560998C>A	uc002yyq.1	-	c.2524G>T	c.(2524-2526)GTG>TTG	p.V842L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	842	Ig-like C2-type 9.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)	6		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				Melanoma(134;970 1778 1785 21664 32388)								0.466165	192.899012	193.034344	62	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41560998	41560998	4952	21	C	A	A	A	234	18	DSCAM	2	2
LSS	4047	broad.mit.edu	37	21	47648438	47648438	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47648438C>G	uc002zij.2	-	c.90G>C	c.(88-90)GAG>GAC	p.E30D	LSS_uc011afv.1_Missense_Mutation_p.E30D|LSS_uc002zil.2_Missense_Mutation_p.E30D|LSS_uc002zik.2_5'UTR|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	30					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					Pancreas(114;955 2313 34923 50507)								0.136364	7.621219	13.256289	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47648438	47648438	9441	21	C	G	G	G	415	32	LSS	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072901	17072901	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072901C>A	uc002zlp.1	-	c.540G>T	c.(538-540)TTG>TTT	p.L180F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	180					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.11828	12.970375	26.275186	11	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072901	17072901	3088	22	C	A	A	A	376	29	CCT8L2	2	2
CLTCL1	8218	broad.mit.edu	37	22	19213771	19213771	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19213771C>A	uc002zpb.2	-	c.1918G>T	c.(1918-1920)GTG>TTG	p.V640L	CLTCL1_uc011agv.1_Missense_Mutation_p.V640L|CLTCL1_uc011agw.1_Missense_Mutation_p.V640L	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	640	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.375	18.146503	18.365777	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19213771	19213771	3705	22	C	A	A	A	221	17	CLTCL1	2	2
GRAMD4	23151	broad.mit.edu	37	22	47069627	47069627	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:47069627G>A	uc003bhx.2	+	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	GRAMD4_uc010had.2_Missense_Mutation_p.E373K|GRAMD4_uc003bhy.2_5'Flank	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	434					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)										0.186047	34.027458	41.912655	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47069627	47069627	7028	22	G	A	A	A	533	41	GRAMD4	2	2
POTEE	445582	broad.mit.edu	37	2	132010529	132010529	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132010529C>A	uc002tsn.2	+	c.1635C>A	c.(1633-1635)CAC>CAA	p.H545Q	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.H145Q|POTEE_uc002tsl.2_Missense_Mutation_p.H127Q|POTEE_uc010fmy.1_Missense_Mutation_p.H9Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	545							ATP binding				0														0.333333	83.967355	86.036137	28	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132010529	132010529	12694	2	C	A	A	A	246	19	POTEE	1	1
SCN7A	6332	broad.mit.edu	37	2	167262631	167262631	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167262631G>C	uc002udu.1	-	c.4508C>G	c.(4507-4509)TCT>TGT	p.S1503C		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1503					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.25	20.116545	21.703968	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167262631	167262631	14405	2	G	C	C	C	429	33	SCN7A	3	3
ZNF804A	91752	broad.mit.edu	37	2	185803401	185803401	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803401C>A	uc002uph.2	+	c.3278C>A	c.(3277-3279)ACC>AAC	p.T1093N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1093						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.23301	57.849169	64.57001	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185803401	185803401	18768	2	C	A	A	A	234	18	ZNF804A	2	2
CALCRL	10203	broad.mit.edu	37	2	188245253	188245253	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:188245253T>A	uc002upv.3	-	c.349A>T	c.(349-351)AGC>TGC	p.S117C	CALCRL_uc010frt.2_Missense_Mutation_p.S117C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	117	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)											0.506494	366.046863	366.054982	117	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188245253	188245253	2696	2	T	A	A	A	728	56	CALCRL	3	3
MATN3	4148	broad.mit.edu	37	2	20203042	20203042	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20203042C>A	uc002rdl.2	-	c.796G>T	c.(796-798)GAC>TAC	p.D266Y	MATN3_uc010exu.1_Intron	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	266	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.535714	40.571436	40.610505	15	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20203042	20203042	9719	2	C	A	A	A	390	30	MATN3	2	2
CPS1	1373	broad.mit.edu	37	2	211512694	211512694	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211512694C>A	uc010fur.2	+	c.3267C>A	c.(3265-3267)ATC>ATA	p.I1089I	CPS1_uc002vee.3_Silent_p.I1083I|CPS1_uc010fus.2_Silent_p.I632I	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1083					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.42	130.635324	131.1666	42	58	KEEP	---	---	---	---	capture		Silent	SNP	211512694	211512694	3961	2	C	A	A	A	395	31	CPS1	1	1
IGFBP2	3485	broad.mit.edu	37	2	217525440	217525440	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217525440G>C	uc010zjt.1	+	c.582G>C	c.(580-582)CAG>CAC	p.Q194H	IGFBP2_uc010zju.1_Missense_Mutation_p.Q129H	NM_000597	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2,	201					regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway		insulin-like growth factor I binding|insulin-like growth factor II binding				0		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)										0.190476	10.987723	12.868178	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217525440	217525440	7880	2	G	C	C	C	425	33	IGFBP2	3	3
RNF25	64320	broad.mit.edu	37	2	219529494	219529494	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219529494C>A	uc002vit.2	-	c.769G>T	c.(769-771)GAG>TAG	p.E257*	RNF25_uc010fvw.2_Nonsense_Mutation_p.E145*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	257					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.534483	95.250025	95.313361	31	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	219529494	219529494	13964	2	C	A	A	A	377	29	RNF25	5	2
TTLL4	9654	broad.mit.edu	37	2	219614060	219614060	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219614060G>T	uc002viy.2	+	c.2685G>T	c.(2683-2685)ATG>ATT	p.M895I	TTLL4_uc010zkl.1_Missense_Mutation_p.M730I|TTLL4_uc010fvx.2_Missense_Mutation_p.M831I|TTLL4_uc010zkm.1_Missense_Mutation_p.M98I	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	895	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)	2		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GBM(172;1818 2053 15407 20943 49753)								0.473684	112.495948	112.541047	36	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219614060	219614060	17284	2	G	T	T	T	598	46	TTLL4	2	2
CCDC108	255101	broad.mit.edu	37	2	219870197	219870197	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219870197C>T	uc002vjl.1	-	c.5010G>A	c.(5008-5010)CAG>CAA	p.Q1670Q		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1670						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.237113	61.669493	67.801712	23	74	KEEP	---	---	---	---	capture		Silent	SNP	219870197	219870197	2863	2	C	T	T	T	415	32	CCDC108	2	2
SPEG	10290	broad.mit.edu	37	2	220333758	220333758	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220333758C>A	uc010fwg.2	+	c.3479C>A	c.(3478-3480)GCC>GAC	p.A1160D		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1160					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				0.319149	38.694398	40.068423	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220333758	220333758	15548	2	C	A	A	A	338	26	SPEG	2	2
SCG2	7857	broad.mit.edu	37	2	224462309	224462309	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:224462309C>T	uc002vnm.2	-	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	564					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.395349	106.613412	107.410575	34	52	KEEP	---	---	---	---	capture		Silent	SNP	224462309	224462309	14372	2	C	T	T	T	288	23	SCG2	1	1
NMUR1	10316	broad.mit.edu	37	2	232389976	232389976	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232389976G>T	uc002vry.3	-	c.1059C>A	c.(1057-1059)CCC>CCA	p.P353P		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	353	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			central_nervous_system(1)|pancreas(1)	2		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)										0.169492	21.997048	28.030471	10	49	KEEP	---	---	---	---	capture		Silent	SNP	232389976	232389976	10909	2	G	T	T	T	496	39	NMUR1	1	1
ANKMY1	51281	broad.mit.edu	37	2	241421603	241421603	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241421603C>A	uc010fzd.1	-	c.2882G>T	c.(2881-2883)GGG>GTG	p.G961V	ANKMY1_uc002vyz.1_Missense_Mutation_p.G872V|ANKMY1_uc002vza.1_Missense_Mutation_p.G648V|ANKMY1_uc002vzb.1_Missense_Mutation_p.G633V|ANKMY1_uc002vzc.1_Missense_Mutation_p.G651V|ANKMY1_uc002vzd.1_Missense_Mutation_p.G695V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	872							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)										0.356436	98.661758	100.498701	36	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241421603	241421603	637	2	C	A	A	A	286	22	ANKMY1	2	2
NEU4	129807	broad.mit.edu	37	2	242757466	242757466	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242757466C>A	uc002wcn.1	+	c.583C>A	c.(583-585)CGC>AGC	p.R195S	NEU4_uc002wcl.2_Non-coding_Transcript|NEU4_uc010fzr.2_Missense_Mutation_p.R183S|NEU4_uc002wcm.2_Missense_Mutation_p.R183S|NEU4_uc002wco.1_Missense_Mutation_p.R183S|NEU4_uc002wcp.1_Missense_Mutation_p.R195S	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	183						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)										0.228571	20.985299	23.347836	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242757466	242757466	10743	2	C	A	A	A	299	23	NEU4	1	1
C2orf16	84226	broad.mit.edu	37	2	27800697	27800697	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27800697C>T	uc002rkz.3	+	c.1258C>T	c.(1258-1260)CCC>TCC	p.P420S		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	420										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.5	119.060857	119.060857	42	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27800697	27800697	2243	2	C	T	T	T	338	26	C2orf16	2	2
CLIP4	79745	broad.mit.edu	37	2	29390370	29390371	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29390370_29390371GA>TT	uc002rmv.2	+	c.1687_1688GA>TT	c.(1687-1689)GAA>TTA	p.E563L	CLIP4_uc002rmu.2_Missense_Mutation_p.E563L|CLIP4_uc002rmw.2_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	563										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.228916	49.797091	55.37993	19	64	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	29390370	29390371	3673	2	GA	TT	TT	TT	429	33	CLIP4	2	2
CHAC2	494143	broad.mit.edu	37	2	53999058	53999058	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:53999058G>A	uc002rxk.1	+	c.150G>A	c.(148-150)GTG>GTA	p.V50V	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	50											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)											0.122449	23.855949	44.363709	18	129	KEEP	---	---	---	---	capture		Silent	SNP	53999058	53999058	3442	2	G	A	A	A	574	45	CHAC2	2	2
BCL11A	53335	broad.mit.edu	37	2	60688324	60688324	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60688324G>T	uc002sae.1	-	c.1723C>A	c.(1723-1725)CTG>ATG	p.L575M	BCL11A_uc002sab.2_Missense_Mutation_p.L575M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.L244M|BCL11A_uc010ypj.1_Missense_Mutation_p.L541M|BCL11A_uc002sad.1_Missense_Mutation_p.L423M|BCL11A_uc002saf.1_Missense_Mutation_p.L541M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	575					protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.483871	45.408818	45.41634	15	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60688324	60688324	1384	2	G	T	T	T	451	35	BCL11A	2	2
PAPOLG	64895	broad.mit.edu	37	2	61014693	61014693	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61014693T>C	uc002sai.2	+	c.1334T>C	c.(1333-1335)GTA>GCA	p.V445A	PAPOLG_uc002saj.2_Missense_Mutation_p.V134A|PAPOLG_uc002sak.2_Intron|PAPOLG_uc010fch.2_Missense_Mutation_p.V134A	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	445					mRNA processing|RNA polyadenylation	nucleus	ATP binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GBM(183;1497 2932 21839 46797)								0.2	19.114477	22.036552	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61014693	61014693	11848	2	T	C	C	C	741	57	PAPOLG	4	4
PROKR1	10887	broad.mit.edu	37	2	68873233	68873233	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68873233C>T	uc010yqj.1	+	c.280C>T	c.(280-282)CGC>TGC	p.R94C	PROKR1_uc002ses.2_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	94	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.203008	57.533537	68.370909	27	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68873233	68873233	12995	2	C	T	T	T	351	27	PROKR1	1	1
CMPK2	129607	broad.mit.edu	37	2	6991699	6991699	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:6991699C>G	uc002qyo.2	-	c.1108G>C	c.(1108-1110)GAC>CAC	p.D370H	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Missense_Mutation_p.D370H	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	370					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.142857	30.91938	45.529092	17	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6991699	6991699	3719	2	C	G	G	G	377	29	CMPK2	3	3
FBXO41	150726	broad.mit.edu	37	2	73492453	73492453	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73492453G>T	uc002sjb.1	-	c.1704C>A	c.(1702-1704)CCC>CCA	p.P568P		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	507	F-box.					intracellular	protein binding|zinc ion binding			pancreas(1)	1														0.384615	31.447308	31.749534	10	16	KEEP	---	---	---	---	capture		Silent	SNP	73492453	73492453	5987	2	G	T	T	T	496	39	FBXO41	1	1
REG3G	130120	broad.mit.edu	37	2	79253889	79253889	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79253889G>A	uc002snw.2	+	c.127G>A	c.(127-129)GGC>AGC	p.G43S	REG3G_uc002snx.2_Missense_Mutation_p.G43S|REG3G_uc010ffu.2_Missense_Mutation_p.G43S	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	43					acute-phase response	extracellular region	sugar binding				0														0.527778	61.824331	61.848314	19	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79253889	79253889	13682	2	G	A	A	A	455	35	REG3G	2	2
REG3A	5068	broad.mit.edu	37	2	79385454	79385454	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79385454G>T	uc002sod.1	-	c.331C>A	c.(331-333)CAG>AAG	p.Q111K	REG3A_uc002soe.1_Missense_Mutation_p.Q111K|REG3A_uc002sof.1_Missense_Mutation_p.Q111K	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	111	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.428571	37.695417	37.820031	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79385454	79385454	13681	2	G	T	T	T	624	48	REG3A	2	2
ANKRD23	200539	broad.mit.edu	37	2	97506548	97506548	+	Silent	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97506548T>G	uc002sxa.2	-	c.402A>C	c.(400-402)GGA>GGC	p.G134G	ANKRD23_uc002sxb.2_Non-coding_Transcript|ANKRD23_uc002sxc.2_Intron	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	diabetes related ankyrin repeat protein	134						nucleus				ovary(1)	1														0.191919	42.069469	50.845655	19	80	KEEP	---	---	---	---	capture		Silent	SNP	97506548	97506548	657	2	T	G	G	G	691	54	ANKRD23	4	4
POLQ	10721	broad.mit.edu	37	3	121200641	121200641	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121200641C>A	uc003eee.3	-	c.5989G>T	c.(5989-5991)GAT>TAT	p.D1997Y	POLQ_uc003eed.2_Missense_Mutation_p.D1169Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1997					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.283784	54.748946	57.852616	21	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121200641	121200641	12636	3	C	A	A	A	416	32	POLQ	2	2
POLQ	10721	broad.mit.edu	37	3	121207931	121207931	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121207931C>A	uc003eee.3	-	c.3847G>T	c.(3847-3849)GAG>TAG	p.E1283*	POLQ_uc003eed.2_Nonsense_Mutation_p.E455*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1283					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.302326	97.261436	101.83825	39	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	121207931	121207931	12636	3	C	A	A	A	377	29	POLQ	5	2
CASR	846	broad.mit.edu	37	3	122003967	122003967	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122003967G>A	uc003eew.3	+	c.3196G>A	c.(3196-3198)GTG>ATG	p.V1066M	CASR_uc003eev.3_Missense_Mutation_p.V1056M	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1056	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.313253	75.440963	78.005949	26	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122003967	122003967	2801	3	G	A	A	A	468	36	CASR	2	2
KALRN	8997	broad.mit.edu	37	3	124196146	124196146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124196146C>T	uc003ehg.2	+	c.4150C>T	c.(4150-4152)CAG>TAG	p.Q1384*	KALRN_uc010hrv.1_Nonsense_Mutation_p.Q1375*|KALRN_uc003ehf.1_Nonsense_Mutation_p.Q1384*|KALRN_uc011bjy.1_Nonsense_Mutation_p.Q1375*|KALRN_uc003ehh.1_Nonsense_Mutation_p.Q730*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1384	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.345238	82.846814	84.624642	29	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124196146	124196146	8279	3	C	T	T	T	273	21	KALRN	5	2
HEG1	57493	broad.mit.edu	37	3	124731608	124731608	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124731608G>T	uc011bke.1	-	c.3115C>A	c.(3115-3117)CCA>ACA	p.P1039T	HEG1_uc003ehs.3_Missense_Mutation_p.P939T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	939	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2														0.419355	37.968964	38.14503	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124731608	124731608	7327	3	G	T	T	T	559	43	HEG1	2	2
CNTN6	27255	broad.mit.edu	37	3	1269653	1269653	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1269653C>T	uc003boz.2	+	c.334C>T	c.(334-336)CGG>TGG	p.R112W	CNTN6_uc010hbo.2_Missense_Mutation_p.R107W|CNTN6_uc011asj.1_Missense_Mutation_p.R40W|CNTN6_uc003bpa.2_Missense_Mutation_p.R112W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	112	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				lung(2)|breast(2)|pancreas(1)	5		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.197802	40.708239	48.438797	18	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1269653	1269653	3783	3	C	T	T	T	399	31	CNTN6	1	1
ACAD11	84129	broad.mit.edu	37	3	132294687	132294687	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132294687C>T	uc003eov.3	-	c.1930G>A	c.(1930-1932)GAA>AAA	p.E644K		NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	644					oxidation-reduction process	peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)	1														0.142857	17.822134	26.409344	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132294687	132294687	110	3	C	T	T	T	390	30	ACAD11	2	2
KY	339855	broad.mit.edu	37	3	134329079	134329079	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134329079C>T	uc010hty.2	-	c.857G>A	c.(856-858)GGC>GAC	p.G286D	KY_uc011blw.1_Missense_Mutation_p.G286D|KY_uc011blx.1_Missense_Mutation_p.G265D|KY_uc003eqr.1_Missense_Mutation_p.G52D	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	286						cytoskeleton|Z disc	peptidase activity			ovary(2)	2														0.314815	45.199829	46.824131	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134329079	134329079	8909	3	C	T	T	T	338	26	KY	2	2
SLC9A9	285195	broad.mit.edu	37	3	143297460	143297460	+	Silent	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:143297460T>A	uc003evn.2	-	c.861A>T	c.(859-861)GCA>GCT	p.A287A	SLC9A9_uc011bnk.1_Silent_p.A161A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	287	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.314286	28.10916	29.185177	11	24	KEEP	---	---	---	---	capture		Silent	SNP	143297460	143297460	15218	3	T	A	A	A	808	63	SLC9A9	3	3
PLSCR4	57088	broad.mit.edu	37	3	145917794	145917794	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145917794C>A	uc010huy.2	-	c.430G>T	c.(430-432)GAT>TAT	p.D144Y	PLSCR4_uc010huz.2_Missense_Mutation_p.D144Y|PLSCR4_uc003evt.3_Missense_Mutation_p.D144Y|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	144	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0														0.178571	9.155421	11.883785	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145917794	145917794	12538	3	C	A	A	A	377	29	PLSCR4	2	2
VPS8	23355	broad.mit.edu	37	3	184648312	184648312	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184648312G>A	uc003fpb.1	+	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	VPS8_uc010hyd.1_Missense_Mutation_p.E860K|VPS8_uc010hye.1_Missense_Mutation_p.E379K	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	952							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)											0.145455	13.715819	20.323712	8	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184648312	184648312	17785	3	G	A	A	A	429	33	VPS8	2	2
KCNH8	131096	broad.mit.edu	37	3	19436748	19436748	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19436748G>T	uc003cbk.1	+	c.1122G>T	c.(1120-1122)TGG>TGT	p.W374C	KCNH8_uc011awe.1_Missense_Mutation_p.W374C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.W5C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	374	Helical; Name=Segment S5; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.333333	59.190227	60.661164	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19436748	19436748	8343	3	G	T	T	T	572	44	KCNH8	2	2
MFI2	4241	broad.mit.edu	37	3	196733536	196733536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196733536G>A	uc003fxk.3	-	c.1822C>T	c.(1822-1824)CGA>TGA	p.R608*		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	608	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)										0.518519	45.351413	45.359559	14	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196733536	196733536	9912	3	G	A	A	A	506	39	MFI2	5	1
SGOL1	151648	broad.mit.edu	37	3	20225228	20225228	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20225228C>T	uc003cbs.2	-	c.211G>A	c.(211-213)GAA>AAA	p.E71K	SGOL1_uc003cbr.2_Missense_Mutation_p.E71K|SGOL1_uc010hfa.2_Missense_Mutation_p.E71K|SGOL1_uc003cbt.2_Missense_Mutation_p.E71K|SGOL1_uc003cbu.2_Missense_Mutation_p.E71K|SGOL1_uc003cbv.2_Missense_Mutation_p.E71K|SGOL1_uc003cbw.2_Missense_Mutation_p.E71K|SGOL1_uc003cbx.2_Missense_Mutation_p.E71K|SGOL1_uc003cby.2_Missense_Mutation_p.E71K|SGOL1_uc003cbz.2_Missense_Mutation_p.E71K|SGOL1_uc003cca.2_Missense_Mutation_p.E71K|SGOL1_uc003ccb.2_Missense_Mutation_p.E71K|SGOL1_uc003ccc.2_Missense_Mutation_p.E71K	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	71	Potential.|Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0														0.142857	12.797233	19.652047	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20225228	20225228	14707	3	C	T	T	T	377	29	SGOL1	2	2
CNTN4	152330	broad.mit.edu	37	3	3085352	3085352	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3085352G>C	uc003bpc.2	+	c.2775G>C	c.(2773-2775)AAG>AAC	p.K925N	CNTN4_uc003bpe.2_Missense_Mutation_p.K597N|CNTN4_uc003bpf.2_Missense_Mutation_p.K596N|CNTN4_uc003bpg.2_Missense_Mutation_p.K181N	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	925	Fibronectin type-III 4.				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)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.181818	12.834649	15.969728	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3085352	3085352	3781	3	G	C	C	C	451	35	CNTN4	3	3
DCLK3	85443	broad.mit.edu	37	3	36779860	36779860	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36779860C>A	uc003cgi.2	-	c.291G>T	c.(289-291)AGG>AGT	p.R97S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	97					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|ovary(1)|breast(1)|kidney(1)	8										128				0.396552	179.858164	181.507258	69	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36779860	36779860	4464	3	C	A	A	A	285	22	DCLK3	2	2
MLH1	4292	broad.mit.edu	37	3	37089041	37089041	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37089041T>G	uc003cgl.2	+	c.1763T>G	c.(1762-1764)CTT>CGT	p.L588R	MLH1_uc011aye.1_Missense_Mutation_p.L347R|MLH1_uc011ayb.1_Missense_Mutation_p.L347R|MLH1_uc010hge.2_Missense_Mutation_p.L588R|MLH1_uc003cgn.3_Missense_Mutation_p.L347R|MLH1_uc011ayc.1_Missense_Mutation_p.L490R|MLH1_uc011ayd.1_Missense_Mutation_p.L347R|MLH1_uc003cgo.2_Missense_Mutation_p.L347R|MLH1_uc010hgk.2_Intron|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Missense_Mutation_p.L2R|MLH1_uc010hgq.2_Intron	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	588	Interaction with EXO1.		L -> P (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|skin(2)|prostate(2)|NS(1)	73								1		349				0.371134	90.146114	91.571532	36	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37089041	37089041	10007	3	T	G	G	G	728	56	MLH1	4	4
SCN11A	11280	broad.mit.edu	37	3	38950598	38950598	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38950598C>G	uc011ays.1	-	c.1189G>C	c.(1189-1191)GCT>CCT	p.A397P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	397	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)									0.324561	114.563344	117.662899	37	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38950598	38950598	14395	3	C	G	G	G	338	26	SCN11A	3	3
CCK	885	broad.mit.edu	37	3	42299711	42299711	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42299711C>T	uc003clc.1	-	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	CCK_uc003cld.1_Missense_Mutation_p.R76Q	NM_000729	NP_000720	P06307	CCKN_HUMAN	cholecystokinin preproprotein	76					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)	1		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)										0.192982	22.776813	27.822816	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42299711	42299711	3004	3	C	T	T	T	403	31	CCK	1	1
PRSS42	339906	broad.mit.edu	37	3	46874472	46874472	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46874472C>A	uc011bap.1	-	c.596G>T	c.(595-597)AGG>ATG	p.R199M	PRSS42_uc003cqj.2_Intron	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	testis serine protease 2 precursor	199	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			pancreas(1)	1														0.467742	86.006218	86.057195	29	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46874472	46874472	13079	3	C	A	A	A	312	24	PRSS42	2	2
CDC25A	993	broad.mit.edu	37	3	48207330	48207330	+	Silent	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48207330A>T	uc003csh.1	-	c.1083T>A	c.(1081-1083)TCT>TCA	p.S361S	CDC25A_uc003csi.1_Silent_p.S321S	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	361					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(2)|kidney(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)						123				0.365	213.771089	216.955037	73	127	KEEP	---	---	---	---	capture		Silent	SNP	48207330	48207330	3190	3	A	T	T	T	132	11	CDC25A	3	3
MAGI1	9223	broad.mit.edu	37	3	65349172	65349172	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:65349172C>A	uc003dmn.2	-	c.3463G>T	c.(3463-3465)GAC>TAC	p.D1155Y	MAGI1_uc003dmm.2_Missense_Mutation_p.D1183Y|MAGI1_uc003dmo.2_Missense_Mutation_p.D1184Y|MAGI1_uc003dmp.2_Missense_Mutation_p.D1088Y	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1184	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)										0.409894	313.152934	315.178258	116	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65349172	65349172	9573	3	C	A	A	A	390	30	MAGI1	2	2
OR5H2	79310	broad.mit.edu	37	3	98001900	98001900	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98001900G>A	uc003dsj.1	+	c.169G>A	c.(169-171)GAC>AAC	p.D57N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	57	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.315972	240.503293	249.136696	91	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98001900	98001900	11572	3	G	A	A	A	585	45	OR5H2	2	2
C4orf17	84103	broad.mit.edu	37	4	100445681	100445681	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100445681C>A	uc003huw.2	+	c.341C>A	c.(340-342)CCC>CAC	p.P114H	C4orf17_uc003hux.2_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	114											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)										0.270833	34.462149	36.730744	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100445681	100445681	2347	4	C	A	A	A	286	22	C4orf17	2	2
DAPP1	27071	broad.mit.edu	37	4	100774501	100774501	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100774501C>T	uc003hvf.3	+	c.485C>T	c.(484-486)CCT>CTT	p.P162L	DAPP1_uc011cek.1_Intron|DAPP1_uc010ilh.2_Missense_Mutation_p.P162L	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and	162					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)										0.5	10.32509	10.32509	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100774501	100774501	4406	4	C	T	T	T	312	24	DAPP1	2	2
UBE2D3	7323	broad.mit.edu	37	4	103723778	103723778	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103723778T>G	uc003hwq.2	-	c.144A>C	c.(142-144)CAA>CAC	p.Q48H	UBE2D3_uc003hwi.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwj.2_Non-coding_Transcript|UBE2D3_uc003hwk.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwl.2_Missense_Mutation_p.Q46H|UBE2D3_uc011cet.1_Missense_Mutation_p.Q46H|UBE2D3_uc011ceu.1_Missense_Mutation_p.Q46H|UBE2D3_uc003hwo.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwp.2_Missense_Mutation_p.Q46H|UBE2D3_uc003hwr.2_Missense_Mutation_p.Q46H	NM_181893	NP_871622	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 3	46					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|post-translational protein modification|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)										0.492537	108.697107	108.699634	33	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103723778	103723778	17407	4	T	G	G	G	725	56	UBE2D3	4	4
ADAD1	132612	broad.mit.edu	37	4	123336679	123336679	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123336679G>A	uc003ieo.2	+	c.1395G>A	c.(1393-1395)ATG>ATA	p.M465I	ADAD1_uc003iep.2_Missense_Mutation_p.M454I|ADAD1_uc003ieq.2_Missense_Mutation_p.M447I	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	465	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0														0.203947	69.864581	82.212746	31	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123336679	123336679	232	4	G	A	A	A	585	45	ADAD1	2	2
PCDH10	57575	broad.mit.edu	37	4	134084251	134084251	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134084251C>T	uc003iha.2	+	c.2917C>T	c.(2917-2919)CTG>TTG	p.L973L		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	973	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.329268	79.111232	81.222962	27	55	KEEP	---	---	---	---	capture		Silent	SNP	134084251	134084251	11927	4	C	T	T	T	415	32	PCDH10	2	2
INPP4B	8821	broad.mit.edu	37	4	143352393	143352393	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143352393C>A	uc003iix.3	-	c.20G>T	c.(19-21)GGG>GTG	p.G7V	INPP4B_uc003iiw.3_Missense_Mutation_p.G7V|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc003iiz.2_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	7					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				0.241379	13.055167	14.802179	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143352393	143352393	8054	4	C	A	A	A	286	22	INPP4B	2	2
NPY1R	4886	broad.mit.edu	37	4	164247106	164247106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164247106G>A	uc003iqm.1	-	c.601C>T	c.(601-603)CAA>TAA	p.Q201*	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	201	Extracellular (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			pancreas(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.4	29.046952	29.264885	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	164247106	164247106	11013	4	G	A	A	A	585	45	NPY1R	5	2
TKTL2	84076	broad.mit.edu	37	4	164393186	164393186	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164393186G>T	uc003iqp.3	-	c.1701C>A	c.(1699-1701)TAC>TAA	p.Y567*		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	567						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.241935	38.491326	42.259814	15	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	164393186	164393186	16465	4	G	T	T	T	620	48	TKTL2	5	2
TLL1	7092	broad.mit.edu	37	4	167021921	167021921	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167021921G>T	uc011cjn.1	+	c.3004G>T	c.(3004-3006)GAT>TAT	p.D1002Y	TLL1_uc003irh.1_Missense_Mutation_p.D979Y|TLL1_uc011cjo.1_Missense_Mutation_p.D803Y	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	979	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)										0.252747	56.798008	61.839048	23	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167021921	167021921	16475	4	G	T	T	T	429	33	TLL1	2	2
TACC3	10460	broad.mit.edu	37	4	1730169	1730169	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1730169C>T	uc003gdo.2	+	c.1040C>T	c.(1039-1041)ACC>ATC	p.T347I	TACC3_uc010ibz.2_Missense_Mutation_p.T347I|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	347						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			Ovarian(120;482 2294 11894 35824)				480				0.25	27.637369	30.403878	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1730169	1730169	16024	4	C	T	T	T	234	18	TACC3	2	2
LAP3	51056	broad.mit.edu	37	4	17597048	17597048	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17597048C>T	uc003gph.1	+	c.879C>T	c.(877-879)ATC>ATT	p.I293I		NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	293					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0														0.232877	41.836762	46.606431	17	56	KEEP	---	---	---	---	capture		Silent	SNP	17597048	17597048	8946	4	C	T	T	T	369	29	LAP3	2	2
ZFYVE28	57732	broad.mit.edu	37	4	2307056	2307056	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2307056G>T	uc003gex.1	-	c.1011C>A	c.(1009-1011)TAC>TAA	p.Y337*	ZFYVE28_uc011bvk.1_Nonsense_Mutation_p.Y267*|ZFYVE28_uc011bvl.1_Nonsense_Mutation_p.Y307*|ZFYVE28_uc003gew.1_Nonsense_Mutation_p.Y223*	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	337					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(1)	1														0.44898	67.339442	67.450184	22	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2307056	2307056	18260	4	G	T	T	T	516	40	ZFYVE28	5	1
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25013978G>A	uc003grf.2	-	c.799C>T	c.(799-801)CGG>TGG	p.R267W		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267	EAR 2.					extracellular region					0		Breast(46;0.173)												0.25	72.618837	79.009812	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25013978	25013978	9078	4	G	A	A	A	506	39	LGI2	1	1
AASDH	132949	broad.mit.edu	37	4	57221506	57221506	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57221506T>A	uc003hbn.2	-	c.945A>T	c.(943-945)TTA>TTT	p.L315F	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.L162F|AASDH_uc003hbo.2_Missense_Mutation_p.L215F|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.L315F|AASDH_uc003hbp.2_Missense_Mutation_p.L315F	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	315					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)												0.25	44.039962	48.115955	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57221506	57221506	23	4	T	A	A	A	686	53	AASDH	3	3
JAKMIP1	152789	broad.mit.edu	37	4	6066733	6066733	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6066733C>A	uc010idb.1	-	c.1305G>T	c.(1303-1305)AAG>AAT	p.K435N	JAKMIP1_uc010idc.1_Missense_Mutation_p.K250N|JAKMIP1_uc010idd.1_Missense_Mutation_p.K435N|JAKMIP1_uc003giu.3_Missense_Mutation_p.K435N|JAKMIP1_uc011bwc.1_Missense_Mutation_p.K270N|JAKMIP1_uc003giv.3_Missense_Mutation_p.K435N|JAKMIP1_uc010ide.2_Missense_Mutation_p.K435N	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	435	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|ovary(1)|pancreas(1)	3														0.4	59.995863	60.431017	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6066733	6066733	8244	4	C	A	A	A	363	28	JAKMIP1	2	2
UGT2B11	10720	broad.mit.edu	37	4	70080278	70080278	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70080278C>G	uc003heh.2	-	c.163G>C	c.(163-165)GTA>CTA	p.V55L		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	55					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.293578	90.5572	94.719768	32	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70080278	70080278	17515	4	C	G	G	G	221	17	UGT2B11	3	3
SLC4A4	8671	broad.mit.edu	37	4	72332251	72332251	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72332251G>T	uc010iic.2	+	c.1588G>T	c.(1588-1590)GGA>TGA	p.G530*	SLC4A4_uc003hfy.2_Nonsense_Mutation_p.G530*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.G530*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.G530*|SLC4A4_uc003hgc.3_Nonsense_Mutation_p.G486*|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Nonsense_Mutation_p.G408*|SLC4A4_uc003hgb.3_Nonsense_Mutation_p.G486*	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	530	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)	4			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)											0.175	40.706734	52.661433	21	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72332251	72332251	15153	4	G	T	T	T	507	39	SLC4A4	5	1
CPZ	8532	broad.mit.edu	37	4	8621162	8621162	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8621162C>T	uc003glm.2	+	c.1777C>T	c.(1777-1779)CAT>TAT	p.H593Y	CPZ_uc003gll.2_Non-coding_Transcript|CPZ_uc003gln.2_Missense_Mutation_p.H456Y|CPZ_uc003glo.2_Missense_Mutation_p.H582Y|CPZ_uc003glp.2_Non-coding_Transcript	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	593					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3														0.207547	21.389992	25.602826	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8621162	8621162	3978	4	C	T	T	T	377	29	CPZ	2	2
PKD2	5311	broad.mit.edu	37	4	88996731	88996731	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88996731C>T	uc003hre.2	+	c.2792C>T	c.(2791-2793)ACG>ATG	p.T931M	PKD2_uc011cdf.1_Missense_Mutation_p.T349M|PKD2_uc011cdg.1_Missense_Mutation_p.T257M|PKD2_uc011cdh.1_Missense_Mutation_p.T154M	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	931	C-terminal coiled coil domain.|Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity				0		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)										0.5	125.910286	125.910286	40	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88996731	88996731	12391	4	C	T	T	T	247	19	PKD2	1	1
HERC6	55008	broad.mit.edu	37	4	89349840	89349840	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89349840G>T	uc011cdi.1	+	c.2044G>T	c.(2044-2046)GTT>TTT	p.V682F	HERC6_uc011cdj.1_Missense_Mutation_p.V646F|HERC6_uc011cdk.1_Non-coding_Transcript|HERC6_uc011cdl.1_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(1)|kidney(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)										0.416667	16.172907	16.245679	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89349840	89349840	7345	4	G	T	T	T	572	44	HERC6	2	2
SEMA6A	57556	broad.mit.edu	37	5	115782751	115782751	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115782751C>T	uc003krx.3	-	c.2702G>A	c.(2701-2703)CGG>CAG	p.R901Q	SEMA6A_uc010jck.2_Missense_Mutation_p.R884Q|SEMA6A_uc011cwe.1_Missense_Mutation_p.R263Q|SEMA6A_uc003krv.3_Missense_Mutation_p.R311Q|SEMA6A_uc003krw.3_Missense_Mutation_p.R361Q|SEMA6A_uc010jcj.2_Missense_Mutation_p.R428Q	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	884	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)										0.534653	179.05982	179.165822	54	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115782751	115782751	14525	5	C	T	T	T	299	23	SEMA6A	1	1
SEMA6A	57556	broad.mit.edu	37	5	115782852	115782852	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115782852C>A	uc003krx.3	-	c.2601G>T	c.(2599-2601)CTG>CTT	p.L867L	SEMA6A_uc010jck.2_Silent_p.L850L|SEMA6A_uc011cwe.1_Silent_p.L229L|SEMA6A_uc003krv.3_Silent_p.L277L|SEMA6A_uc003krw.3_Silent_p.L327L|SEMA6A_uc010jcj.2_Silent_p.L394L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	850	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)										0.521053	314.561729	314.632774	99	91	KEEP	---	---	---	---	capture		Silent	SNP	115782852	115782852	14525	5	C	A	A	A	262	21	SEMA6A	2	2
DMXL1	1657	broad.mit.edu	37	5	118525409	118525409	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118525409C>T	uc010jcl.1	+	c.7142C>T	c.(7141-7143)TCA>TTA	p.S2381L	DMXL1_uc003ksd.2_Missense_Mutation_p.S2381L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2381										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)										0.309091	48.455275	50.24106	17	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118525409	118525409	4776	5	C	T	T	T	377	29	DMXL1	2	2
DNAH5	1767	broad.mit.edu	37	5	13866016	13866016	+	Splice_Site_SNP	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13866016C>A	uc003jfd.2	-	c.4117_splice	c.e27-1	p.N1373_splice		NM_001369	NP_001360			dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.588889	170.284449	170.904435	53	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	13866016	13866016	4787	5	C	A	A	A	416	32	DNAH5	5	2
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140531513G>A	uc003lir.2	+	c.1675G>A	c.(1675-1677)GTG>ATG	p.V559M	PCDHB6_uc011dah.1_Missense_Mutation_p.V423M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	559	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.466667	84.69864	84.756074	28	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140531513	140531513	11966	5	G	A	A	A	520	40	PCDHB6	1	1
PCDHB7	56129	broad.mit.edu	37	5	140552772	140552772	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140552772C>T	uc003lit.2	+	c.356C>T	c.(355-357)GCT>GTT	p.A119V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	119	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.384615	61.345951	61.931701	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140552772	140552772	11967	5	C	T	T	T	364	28	PCDHB7	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559034	140559034	+	Missense_Mutation	SNP	C	A	A	rs113701735		TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559034C>A	uc011dai.1	+	c.1419C>A	c.(1417-1419)AGC>AGA	p.S473R	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	473	Cadherin 5.|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)											0.090756	25.559788	125.825228	54	541	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559034	140559034	11968	5	C	A	A	A	350	27	PCDHB8	1	1
SLC6A3	6531	broad.mit.edu	37	5	1443098	1443098	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1443098G>A	uc003jck.2	-	c.215C>T	c.(214-216)TCC>TTC	p.S72F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	72	Helical; Name=1; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)									0.11465	18.949995	41.925994	18	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1443098	1443098	15182	5	G	A	A	A	533	41	SLC6A3	2	2
ANKH	56172	broad.mit.edu	37	5	14751287	14751287	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14751287G>A	uc003jfm.3	-	c.578C>T	c.(577-579)CCG>CTG	p.P193L		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	193	Helical; (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity				0														0.079545	-1.863123	14.122028	7	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14751287	14751287	630	5	G	A	A	A	507	39	ANKH	1	1
SH3TC2	79628	broad.mit.edu	37	5	148418026	148418026	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148418026C>T	uc003lpu.2	-	c.833G>A	c.(832-834)GGT>GAT	p.G278D	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.G271D|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G163D	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	278	SH3.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.576923	181.775433	182.292205	60	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148418026	148418026	14754	5	C	T	T	T	234	18	SH3TC2	2	2
NMUR2	56923	broad.mit.edu	37	5	151777633	151777633	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151777633T>G	uc003luv.2	-	c.799A>C	c.(799-801)AAC>CAC	p.N267H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	267	Helical; Name=6; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.525	71.854517	71.875182	21	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151777633	151777633	10910	5	T	G	G	G	819	63	NMUR2	4	4
SGCD	6444	broad.mit.edu	37	5	156186318	156186318	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156186318T>A	uc003lwc.3	+	c.790T>A	c.(790-792)TGC>AGC	p.C264S	SGCD_uc003lwd.3_Missense_Mutation_p.C263S	NM_000337	NP_000328	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 1	263	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.621212	138.418904	139.300464	41	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156186318	156186318	14692	5	T	A	A	A	715	55	SGCD	3	3
ADAM19	8728	broad.mit.edu	37	5	156915450	156915450	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156915450G>T	uc003lwz.2	-	c.2373C>A	c.(2371-2373)CCC>CCA	p.P791P	ADAM19_uc003lww.1_Silent_p.P524P|ADAM19_uc003lwy.2_Silent_p.P390P|ADAM19_uc011ddr.1_Silent_p.P722P	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	791	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.444444	62.894697	63.015635	20	25	KEEP	---	---	---	---	capture		Silent	SNP	156915450	156915450	241	5	G	T	T	T	548	43	ADAM19	2	2
GABRA1	2554	broad.mit.edu	37	5	161302569	161302569	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161302569G>A	uc010jiw.2	+	c.480G>A	c.(478-480)CTG>CTA	p.L160L	GABRA1_uc010jix.2_Silent_p.L160L|GABRA1_uc010jiy.2_Silent_p.L160L|GABRA1_uc003lyx.3_Silent_p.L160L|GABRA1_uc010jiz.2_Silent_p.L160L|GABRA1_uc010jja.2_Silent_p.L160L|GABRA1_uc010jjb.2_Silent_p.L160L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	160	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.577778	80.753891	80.990946	26	19	KEEP	---	---	---	---	capture		Silent	SNP	161302569	161302569	6411	5	G	A	A	A	574	45	GABRA1	2	2
ZNF622	90441	broad.mit.edu	37	5	16465718	16465718	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16465718C>A	uc003jfq.2	-	c.57G>T	c.(55-57)CAG>CAT	p.Q19H		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	19	U1-type 1.					cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1														0.555556	170.116548	170.380991	55	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16465718	16465718	18641	5	C	A	A	A	363	28	ZNF622	2	2
ODZ2	57451	broad.mit.edu	37	5	167654946	167654946	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167654946G>A	uc010jjd.2	+	c.5304G>A	c.(5302-5304)AGG>AGA	p.R1768R	ODZ2_uc003lzr.3_Silent_p.R1538R|ODZ2_uc003lzt.3_Silent_p.R1141R|ODZ2_uc010jje.2_Silent_p.R1032R	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.545455	20.250865	20.270605	6	5	KEEP	---	---	---	---	capture		Silent	SNP	167654946	167654946	11240	5	G	A	A	A	555	43	ODZ2	2	2
F12	2161	broad.mit.edu	37	5	176832080	176832080	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176832080G>A	uc003mgo.3	-	c.504C>T	c.(502-504)GCC>GCT	p.A168A	F12_uc011dfy.1_5'Flank|F12_uc003mgn.3_5'Flank|F12_uc010jkl.2_Non-coding_Transcript	NM_000505	NP_000496	P00748	FA12_HUMAN	coagulation factor XII precursor	168	Fibronectin type-I.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	misfolded protein binding|serine-type endopeptidase activity				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)							140				0.363636	33.892756	34.43182	12	21	KEEP	---	---	---	---	capture		Silent	SNP	176832080	176832080	5533	5	G	A	A	A	548	43	F12	2	2
CDH18	1016	broad.mit.edu	37	5	19483608	19483608	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19483608C>A	uc003jgc.2	-	c.1684G>T	c.(1684-1686)GAT>TAT	p.D562Y	CDH18_uc003jgd.2_Missense_Mutation_p.D562Y|CDH18_uc011cnm.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	562	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.190476	24.378143	30.009818	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19483608	19483608	3232	5	C	A	A	A	390	30	CDH18	2	2
PRDM9	56979	broad.mit.edu	37	5	23522857	23522857	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23522857G>T	uc003jgo.2	+	c.745G>T	c.(745-747)GGG>TGG	p.G249W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	249	SET.				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														0.594937	152.336651	152.958737	47	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23522857	23522857	12906	5	G	T	T	T	611	47	PRDM9	2	2
CDH10	1008	broad.mit.edu	37	5	24491686	24491686	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24491686C>A	uc003jgr.1	-	c.1875G>T	c.(1873-1875)CTG>CTT	p.L625L	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	625	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.183099	55.311863	68.793351	26	116	KEEP	---	---	---	---	capture		Silent	SNP	24491686	24491686	3225	5	C	A	A	A	262	21	CDH10	2	2
TARS	6897	broad.mit.edu	37	5	33455797	33455797	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33455797G>T	uc011coc.1	+	c.744G>T	c.(742-744)CTG>CTT	p.L248L	TARS_uc011cob.1_Silent_p.L215L|TARS_uc010iup.1_Silent_p.L168L|TARS_uc003jhy.2_Silent_p.L227L|TARS_uc003jhz.2_Silent_p.L123L|TARS_uc011cod.1_Silent_p.L106L	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	227					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.578125	247.812456	248.509786	74	54	KEEP	---	---	---	---	capture		Silent	SNP	33455797	33455797	16081	5	G	T	T	T	600	47	TARS	2	2
RXFP3	51289	broad.mit.edu	37	5	33937116	33937116	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33937116G>T	uc003jic.1	+	c.271G>T	c.(271-273)GTG>TTG	p.V91L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	91	Helical; Name=1; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0														0.655172	182.984537	184.835318	57	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33937116	33937116	14241	5	G	T	T	T	572	44	RXFP3	2	2
IRX1	79192	broad.mit.edu	37	5	3600222	3600222	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:3600222A>G	uc003jde.2	+	c.1160A>G	c.(1159-1161)AAC>AGC	p.N387S		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	387					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|pancreas(1)	2														0.16	28.985494	37.212453	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3600222	3600222	8147	5	A	G	G	G	26	2	IRX1	4	4
DAB2	1601	broad.mit.edu	37	5	39383364	39383364	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39383364C>G	uc003jlx.2	-	c.697G>C	c.(697-699)GAT>CAT	p.D233H	DAB2_uc003jlw.2_Missense_Mutation_p.D212H	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	233					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.071038	-4.63352	30.047789	13	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39383364	39383364	4384	5	C	G	G	G	416	32	DAB2	3	3
MAP1B	4131	broad.mit.edu	37	5	71491552	71491552	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71491552G>T	uc003kbw.3	+	c.2370G>T	c.(2368-2370)AAG>AAT	p.K790N	MAP1B_uc010iyw.1_Missense_Mutation_p.K807N|MAP1B_uc010iyx.1_Missense_Mutation_p.K664N|MAP1B_uc010iyy.1_Missense_Mutation_p.K664N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	790	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		Melanoma(17;367 822 11631 31730 47712)								0.666667	77.00468	77.88916	24	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71491552	71491552	9611	5	G	T	T	T	451	35	MAP1B	2	2
BHMT	635	broad.mit.edu	37	5	78416224	78416224	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78416224G>A	uc003kfu.3	+	c.337G>A	c.(337-339)GAA>AAA	p.E113K	BHMT_uc011cti.1_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	113	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)									0.28	18.315241	19.402622	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78416224	78416224	1450	5	G	A	A	A	585	45	BHMT	2	2
SEMA5A	9037	broad.mit.edu	37	5	9044623	9044623	+	Silent	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9044623G>C	uc003jek.2	-	c.2967C>G	c.(2965-2967)GTC>GTG	p.V989V		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	989	Helical; (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.078947	-2.297926	25.213571	12	140	KEEP	---	---	---	---	capture		Silent	SNP	9044623	9044623	14523	5	G	C	C	C	418	33	SEMA5A	3	3
GRIK2	2898	broad.mit.edu	37	6	102266270	102266270	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102266270G>T	uc003pqp.3	+	c.1229G>T	c.(1228-1230)GGC>GTC	p.G410V	GRIK2_uc003pqn.2_Missense_Mutation_p.G410V|GRIK2_uc003pqo.3_Missense_Mutation_p.G410V|GRIK2_uc010kcw.2_Missense_Mutation_p.G410V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	410	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.4375	22.322667	22.377172	7	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102266270	102266270	7053	6	G	T	T	T	546	42	GRIK2	2	2
LIN28B	389421	broad.mit.edu	37	6	105526436	105526436	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105526436G>T	uc003pqv.1	+	c.531G>T	c.(529-531)CAG>CAT	p.Q177H	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	177					miRNA catabolic process|pre-microRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)												0.518519	44.551922	44.560085	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105526436	105526436	9133	6	G	T	T	T	451	35	LIN28B	2	2
WASF1	8936	broad.mit.edu	37	6	110424697	110424697	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110424697C>A	uc003ptv.1	-	c.777G>T	c.(775-777)CAG>CAT	p.Q259H	WASF1_uc003ptw.1_Missense_Mutation_p.Q259H|WASF1_uc003ptx.1_Missense_Mutation_p.Q259H|WASF1_uc003pty.1_Missense_Mutation_p.Q259H	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	259					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)										0.673913	95.956986	97.167454	31	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110424697	110424697	17824	6	C	A	A	A	415	32	WASF1	2	2
CD83	9308	broad.mit.edu	37	6	14135350	14135350	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:14135350G>T	uc003nbi.2	+	c.501G>T	c.(499-501)CGG>CGT	p.R167R	CD83_uc003nbh.2_Silent_p.R166R	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	167	Cytoplasmic (Potential).				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)												0.098361	7.050754	26.537919	12	110	KEEP	---	---	---	---	capture		Silent	SNP	14135350	14135350	3169	6	G	T	T	T	535	42	CD83	2	2
SLC17A4	10050	broad.mit.edu	37	6	25777090	25777090	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25777090A>T	uc003nfe.2	+	c.1171A>T	c.(1171-1173)AGC>TGC	p.S391C	SLC17A4_uc011djx.1_Missense_Mutation_p.S161C|SLC17A4_uc003nff.1_Missense_Mutation_p.S180C|SLC17A4_uc003nfg.2_Missense_Mutation_p.S328C|SLC17A4_uc010jqa.2_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	391					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity				0														0.079545	0.955603	16.832271	7	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25777090	25777090	14915	6	A	T	T	T	91	7	SLC17A4	3	3
PRSS16	10279	broad.mit.edu	37	6	27216634	27216634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27216634G>A	uc003nja.2	+	c.246G>A	c.(244-246)TGG>TGA	p.W82*	PRSS16_uc011dkt.1_Non-coding_Transcript|PRSS16_uc003njb.2_Intron|PRSS16_uc010jqq.1_5'UTR|PRSS16_uc010jqr.1_5'UTR|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc003njd.2_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16 precursor	82					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)	4						NSCLC(178;1118 2105 17078 23587 44429)								0.666667	49.796137	50.386001	16	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27216634	27216634	13066	6	G	A	A	A	559	43	PRSS16	5	2
OR2B6	26212	broad.mit.edu	37	6	27925077	27925077	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925077G>T	uc011dkx.1	+	c.59G>T	c.(58-60)CGA>CTA	p.R20L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.483146	132.000684	132.022672	43	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27925077	27925077	11397	6	G	T	T	T	481	37	OR2B6	1	1
TRIM10	10107	broad.mit.edu	37	6	30121975	30121975	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30121975C>T	uc003npo.3	-	c.1217G>A	c.(1216-1218)AGG>AAG	p.R406K	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	406	B30.2/SPRY.					cytoplasm	zinc ion binding				0														0.642857	28.259645	28.506858	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30121975	30121975	17030	6	C	T	T	T	312	24	TRIM10	2	2
TAP2	6891	broad.mit.edu	37	6	32797239	32797239	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32797239C>T	uc011dqf.1	-	c.1870G>A	c.(1870-1872)GAC>AAC	p.D624N	TAP2_uc003ocb.1_Missense_Mutation_p.D624N|TAP2_uc003occ.2_Missense_Mutation_p.D624N|TAP2_uc003ocd.2_Missense_Mutation_p.D624N	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	624	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.310345	21.862712	22.793028	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32797239	32797239	16072	6	C	T	T	T	416	32	TAP2	2	2
TREML1	340205	broad.mit.edu	37	6	41121752	41121752	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41121752G>A	uc011duc.1	-	c.120C>T	c.(118-120)TAC>TAT	p.Y40Y	TREML1_uc003opx.2_Silent_p.Y40Y|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	40	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.510204	71.350495	71.354424	25	24	KEEP	---	---	---	---	capture		Silent	SNP	41121752	41121752	17016	6	G	A	A	A	620	48	TREML1	2	2
ZNF318	24149	broad.mit.edu	37	6	43304967	43304967	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43304967G>C	uc003oux.2	-	c.6769C>G	c.(6769-6771)CAG>GAG	p.Q2257E	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2257					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)											0.291667	46.435856	48.298581	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43304967	43304967	18428	6	G	C	C	C	585	45	ZNF318	3	3
GPR116	221395	broad.mit.edu	37	6	46849193	46849193	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46849193G>A	uc003oyo.3	-	c.813C>T	c.(811-813)ATC>ATT	p.I271I	GPR116_uc003oyp.3_Silent_p.I271I|GPR116_uc003oyq.3_Silent_p.I271I|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.I271I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	271	Ig-like 1.|SEA.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1			Lung(136;0.192)			NSCLC(59;410 1274 8751 36715 50546)								0.164706	24.588046	33.671608	14	71	KEEP	---	---	---	---	capture		Silent	SNP	46849193	46849193	6907	6	G	A	A	A	577	45	GPR116	2	2
ICK	22858	broad.mit.edu	37	6	52878687	52878687	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52878687C>T	uc003pbh.2	-	c.925G>A	c.(925-927)GAA>AAA	p.E309K	ICK_uc003pbi.2_Missense_Mutation_p.E309K	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	309					intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)									283				0.125	5.821368	10.180179	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52878687	52878687	7784	6	C	T	T	T	390	30	ICK	2	2
ZNF451	26036	broad.mit.edu	37	6	57011930	57011930	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:57011930G>C	uc003pdm.1	+	c.1047G>C	c.(1045-1047)AAG>AAC	p.K349N	ZNF451_uc003pdl.2_Missense_Mutation_p.K349N|ZNF451_uc003pdn.1_Missense_Mutation_p.K349N|ZNF451_uc003pdk.1_Missense_Mutation_p.K349N	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)											0.215686	28.510611	32.304896	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57011930	57011930	18515	6	G	C	C	C	425	33	ZNF451	3	3
KHDRBS2	202559	broad.mit.edu	37	6	62757846	62757846	+	Silent	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62757846T>A	uc003peg.2	-	c.273A>T	c.(271-273)CTA>CTT	p.L91L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	91	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.123457	12.817039	24.032957	10	71	KEEP	---	---	---	---	capture		Silent	SNP	62757846	62757846	8453	6	T	A	A	A	730	57	KHDRBS2	3	3
EYS	346007	broad.mit.edu	37	6	66115113	66115113	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:66115113G>A	uc011dxu.1	-	c.1010C>T	c.(1009-1011)TCA>TTA	p.S337L	EYS_uc003peq.2_Missense_Mutation_p.S337L|EYS_uc003per.1_Missense_Mutation_p.S337L	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	337	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1														0.26087	58.356394	63.120149	24	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66115113	66115113	5526	6	G	A	A	A	585	45	EYS	2	2
RREB1	6239	broad.mit.edu	37	6	7211137	7211137	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7211137C>G	uc003mxb.2	+	c.526C>G	c.(526-528)CAC>GAC	p.H176D	RREB1_uc010jnw.2_Missense_Mutation_p.H176D|RREB1_uc003mxc.2_Missense_Mutation_p.H176D|RREB1_uc010jnx.2_Missense_Mutation_p.H176D|RREB1_uc003mxd.2_Missense_Mutation_p.H176D	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	176					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.111111	15.743726	34.635083	14	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7211137	7211137	14159	6	C	G	G	G	377	29	RREB1	3	3
COL12A1	1303	broad.mit.edu	37	6	75799844	75799844	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75799844C>A	uc003phs.2	-	c.8923G>T	c.(8923-8925)GGA>TGA	p.G2975*	COL12A1_uc003pht.2_Nonsense_Mutation_p.G1811*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2975	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.244186	105.829144	116.042962	42	130	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75799844	75799844	3807	6	C	A	A	A	286	22	COL12A1	5	2
ZNF292	23036	broad.mit.edu	37	6	87964599	87964599	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87964599G>A	uc003plm.3	+	c.1252G>A	c.(1252-1254)GAT>AAT	p.D418N		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.28	19.113993	20.202115	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87964599	87964599	18418	6	G	A	A	A	585	45	ZNF292	2	2
PM20D2	135293	broad.mit.edu	37	6	89862832	89862832	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89862832G>C	uc003pmz.2	+	c.685G>C	c.(685-687)GAT>CAT	p.D229H		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	229							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)										0.679245	125.397459	126.910046	36	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89862832	89862832	12555	6	G	C	C	C	429	33	PM20D2	3	3
CASP8AP2	9994	broad.mit.edu	37	6	90573971	90573971	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90573971A>G	uc003pnr.2	+	c.2543A>G	c.(2542-2544)AAT>AGT	p.N848S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.N848S|CASP8AP2_uc011dzz.1_Missense_Mutation_p.N848S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	848					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		Colon(187;1656 2025 17045 31481 39901)								0.541667	43.676597	43.712875	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90573971	90573971	2797	6	A	G	G	G	52	4	CASP8AP2	4	4
ZAN	7455	broad.mit.edu	37	7	100334234	100334234	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100334234G>A	uc003uwj.2	+	c.235G>A	c.(235-237)GGG>AGG	p.G79R	ZAN_uc003uwk.2_Missense_Mutation_p.G79R|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	79	MAM 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.425743	132.623327	133.103159	43	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100334234	100334234	18096	7	G	A	A	A	507	39	ZAN	1	1
SLC12A9	56996	broad.mit.edu	37	7	100459433	100459433	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100459433G>T	uc003uwp.2	+	c.1611G>T	c.(1609-1611)CTG>CTT	p.L537L	SLC12A9_uc003uwq.2_Silent_p.L448L|SLC12A9_uc011kki.1_Silent_p.L68L|SLC12A9_uc003uwr.2_Silent_p.L273L|SLC12A9_uc003uws.2_Silent_p.L68L|SLC12A9_uc003uwt.2_Silent_p.L273L|SLC12A9_uc003uwv.2_Silent_p.L68L	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	537	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.105263	6.846318	18.615698	8	68	KEEP	---	---	---	---	capture		Silent	SNP	100459433	100459433	14885	7	G	T	T	T	600	47	SLC12A9	2	2
CUX1	1523	broad.mit.edu	37	7	101870761	101870761	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101870761A>G	uc003uys.3	+	c.3278A>G	c.(3277-3279)GAG>GGG	p.E1093G	CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron|CUX1_uc003uyx.3_Missense_Mutation_p.E1082G	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1082					negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.425	105.29919	105.69842	34	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101870761	101870761	4224	7	A	G	G	G	143	11	CUX1	4	4
CYP2W1	54905	broad.mit.edu	37	7	1027006	1027006	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:1027006C>T	uc003sjq.1	+	c.982C>T	c.(982-984)CGC>TGC	p.R328C	CYP2W1_uc003sjr.1_Missense_Mutation_p.R328C	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	328					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)										0.538462	23.129451	23.147053	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1027006	1027006	4341	7	C	T	T	T	299	23	CYP2W1	1	1
LAMB4	22798	broad.mit.edu	37	7	107732801	107732801	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107732801C>T	uc010ljo.1	-	c.1531G>A	c.(1531-1533)GGA>AGA	p.G511R	LAMB4_uc003vey.2_Missense_Mutation_p.G511R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	511	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.358974	41.737205	42.421004	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107732801	107732801	8936	7	C	T	T	T	273	21	LAMB4	2	2
THSD7A	221981	broad.mit.edu	37	7	11415466	11415466	+	Silent	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11415466T>A	uc003ssf.3	-	c.4929A>T	c.(4927-4929)CGA>CGT	p.R1643R	THSD7A_uc003ssd.3_Silent_p.R147R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1643	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.380952	117.269063	118.574754	40	65	KEEP	---	---	---	---	capture		Silent	SNP	11415466	11415466	16407	7	T	A	A	A	743	58	THSD7A	3	3
THSD7A	221981	broad.mit.edu	37	7	11676463	11676463	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11676463T>A	uc003ssf.3	-	c.316A>T	c.(316-318)AAT>TAT	p.N106Y		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	106	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.3	50.405904	52.935954	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11676463	11676463	16407	7	T	A	A	A	819	63	THSD7A	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121681017	121681017	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121681017G>C	uc003vjy.2	+	c.5785G>C	c.(5785-5787)GTT>CTT	p.V1929L	PTPRZ1_uc003vjz.2_Missense_Mutation_p.V1062L|PTPRZ1_uc011knt.1_Missense_Mutation_p.V519L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1929	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.6	209.524779	210.406977	60	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121681017	121681017	13272	7	G	C	C	C	624	48	PTPRZ1	3	3
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140453155C>T	uc003vwc.3	-	c.1780G>A	c.(1780-1782)GAT>AAT	p.D594N		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(7)|p.D594G(4)|p.D594K(3)|p.D594_T599del(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)		61		451				0.358491	103.508623	105.381847	38	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140453155	140453155	1527	7	C	T	T	T	377	29	BRAF	2	2
EPHB6	2051	broad.mit.edu	37	7	142565423	142565423	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142565423C>G	uc011kst.1	+	c.1808C>G	c.(1807-1809)GCT>GGT	p.A603G	EPHB6_uc011ksu.1_Missense_Mutation_p.A603G|EPHB6_uc003wbs.2_Missense_Mutation_p.A311G|EPHB6_uc003wbt.2_Missense_Mutation_p.A77G|EPHB6_uc003wbu.2_Missense_Mutation_p.A311G|EPHB6_uc003wbv.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	603	Helical; (Potential).		A -> P (in a colorectal cancer sample; somatic mutation).		protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.62963	51.913577	52.297862	17	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142565423	142565423	5371	7	C	G	G	G	364	28	EPHB6	3	3
EPHB6	2051	broad.mit.edu	37	7	142565468	142565468	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142565468T>G	uc011kst.1	+	c.1853T>G	c.(1852-1854)GTC>GGC	p.V618G	EPHB6_uc011ksu.1_Missense_Mutation_p.V618G|EPHB6_uc003wbs.2_Missense_Mutation_p.V326G|EPHB6_uc003wbt.2_Missense_Mutation_p.V92G|EPHB6_uc003wbu.2_Missense_Mutation_p.V326G|EPHB6_uc003wbv.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	618	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.458333	31.420899	31.457234	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142565468	142565468	5371	7	T	G	G	G	754	58	EPHB6	4	4
CLCN1	1180	broad.mit.edu	37	7	143047543	143047543	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143047543C>A	uc003wcr.1	+	c.2482C>A	c.(2482-2484)CTG>ATG	p.L828M	CLCN1_uc011ktc.1_Missense_Mutation_p.L440M	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	828	CBS 2.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.590909	114.037307	114.498941	39	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143047543	143047543	3598	7	C	A	A	A	363	28	CLCN1	2	2
KRBA1	84626	broad.mit.edu	37	7	149419891	149419891	+	Missense_Mutation	SNP	A	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149419891A>C	uc003wfz.2	+	c.616A>C	c.(616-618)AGC>CGC	p.S206R	KRBA1_uc010lpj.2_Non-coding_Transcript|KRBA1_uc003wga.2_Non-coding_Transcript|KRBA1_uc003wgb.2_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	206										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.166667	27.239219	37.370684	16	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149419891	149419891	8754	7	A	C	C	C	91	7	KRBA1	4	4
ABP1	26	broad.mit.edu	37	7	150554886	150554886	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150554886C>A	uc003wia.1	+	c.1328C>A	c.(1327-1329)GCG>GAG	p.A443E	ABP1_uc003why.1_Missense_Mutation_p.A443E|ABP1_uc003whz.1_Missense_Mutation_p.A443E	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	443					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.651515	145.207689	146.595777	43	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150554886	150554886	99	7	C	A	A	A	351	27	ABP1	1	1
TWISTNB	221830	broad.mit.edu	37	7	19738102	19738102	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19738102T>C	uc003sup.1	-	c.854A>G	c.(853-855)CAG>CGG	p.Q285R		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	285	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1														0.308696	407.996048	422.990644	142	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19738102	19738102	17340	7	T	C	C	C	715	55	TWISTNB	4	4
FTSJ2	29960	broad.mit.edu	37	7	2279093	2279093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2279093C>T	uc003slm.2	-	c.258G>A	c.(256-258)TGG>TGA	p.W86*	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_Non-coding_Transcript|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	86	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)										0.37037	28.275563	28.661062	10	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2279093	2279093	6339	7	C	T	T	T	390	30	FTSJ2	5	2
CARD11	84433	broad.mit.edu	37	7	2949749	2949749	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2949749G>C	uc003smv.2	-	c.3195C>G	c.(3193-3195)ATC>ATG	p.I1065M		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1065	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.40708	143.599839	144.457447	46	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2949749	2949749	2764	7	G	C	C	C	577	45	CARD11	3	3
CARD11	84433	broad.mit.edu	37	7	2984041	2984041	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2984041C>G	uc003smv.2	-	c.489G>C	c.(487-489)AAG>AAC	p.K163N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	163	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.071429	-5.332532	18.686349	9	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2984041	2984041	2764	7	C	G	G	G	415	32	CARD11	3	3
BMPER	168667	broad.mit.edu	37	7	34118549	34118549	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34118549C>A	uc011kap.1	+	c.1159C>A	c.(1159-1161)CAG>AAG	p.Q387K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	387	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.388889	154.972164	156.527173	56	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34118549	34118549	1493	7	C	A	A	A	377	29	BMPER	2	2
AOAH	313	broad.mit.edu	37	7	36561669	36561669	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36561669G>T	uc003tfh.3	-	c.1575C>A	c.(1573-1575)CCC>CCA	p.P525P	AOAH_uc010kxf.2_Silent_p.P525P|AOAH_uc011kba.1_Silent_p.P493P	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	525					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity				0														0.3	43.953262	45.713408	15	35	KEEP	---	---	---	---	capture		Silent	SNP	36561669	36561669	736	7	G	T	T	T	496	39	AOAH	1	1
HECW1	23072	broad.mit.edu	37	7	43484721	43484721	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43484721G>T	uc003tid.1	+	c.1950G>T	c.(1948-1950)ACG>ACT	p.T650T	HECW1_uc011kbi.1_Silent_p.T650T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	650					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.361111	37.065229	37.676312	13	23	KEEP	---	---	---	---	capture		Silent	SNP	43484721	43484721	7325	7	G	T	T	T	483	38	HECW1	1	1
GRB10	2887	broad.mit.edu	37	7	50673020	50673020	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50673020C>A	uc003tpi.2	-	c.1356G>T	c.(1354-1356)CAG>CAT	p.Q452H	GRB10_uc003tph.3_Missense_Mutation_p.Q394H|GRB10_uc003tpj.2_Missense_Mutation_p.Q406H|GRB10_uc003tpk.2_Missense_Mutation_p.Q452H|GRB10_uc010kzb.2_Missense_Mutation_p.Q394H|GRB10_uc003tpl.2_Missense_Mutation_p.Q446H|GRB10_uc003tpm.2_Missense_Mutation_p.Q394H|GRB10_uc003tpn.2_Missense_Mutation_p.Q394H	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	452					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|ovary(1)	2	Glioma(55;0.08)|all_neural(89;0.245)													0.446809	58.461039	58.577757	21	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50673020	50673020	7033	7	C	A	A	A	415	32	GRB10	2	2
POM121L12	285877	broad.mit.edu	37	7	53103542	53103542	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103542C>A	uc003tpz.2	+	c.178C>A	c.(178-180)CAG>AAG	p.Q60K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	60											0														0.346154	49.632411	50.719875	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53103542	53103542	12669	7	C	A	A	A	377	29	POM121L12	2	2
SEPT14	346288	broad.mit.edu	37	7	55863778	55863778	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55863778T>A	uc003tqz.2	-	c.1127A>T	c.(1126-1128)GAC>GTC	p.D376V		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	376	Potential.				cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.521739	36.307427	36.317532	12	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55863778	55863778	14549	7	T	A	A	A	754	58	SEPT14	3	3
SEMA3C	10512	broad.mit.edu	37	7	80427497	80427497	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80427497C>A	uc011kgw.1	-	c.1096G>T	c.(1096-1098)GTG>TTG	p.V366L	SEMA3C_uc003uhj.2_Missense_Mutation_p.V348L|SEMA3C_uc011kgx.1_Missense_Mutation_p.V200L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	348	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1														0.339623	48.466065	49.704266	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80427497	80427497	14512	7	C	A	A	A	221	17	SEMA3C	2	2
HGF	3082	broad.mit.edu	37	7	81346567	81346567	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81346567A>T	uc003uhl.2	-	c.1386T>A	c.(1384-1386)GAT>GAA	p.D462E	HGF_uc003uhm.2_Missense_Mutation_p.D457E	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	462	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.303797	65.964345	68.681895	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81346567	81346567	7369	7	A	T	T	T	50	4	HGF	3	3
SEMA3A	10371	broad.mit.edu	37	7	83590774	83590774	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83590774G>T	uc003uhz.2	-	c.2229C>A	c.(2227-2229)AAC>AAA	p.N743K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	743	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.372671	180.117669	182.423976	60	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83590774	83590774	14510	7	G	T	T	T	620	48	SEMA3A	2	2
SEMA3A	10371	broad.mit.edu	37	7	83636694	83636694	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83636694C>T	uc003uhz.2	-	c.1115G>A	c.(1114-1116)AGA>AAA	p.R372K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	372	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.108434	9.743541	22.331786	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83636694	83636694	14510	7	C	T	T	T	416	32	SEMA3A	2	2
CROT	54677	broad.mit.edu	37	7	87011402	87011402	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87011402G>T	uc003uiu.2	+	c.1159G>T	c.(1159-1161)GTA>TTA	p.V387L	CROT_uc003uit.2_Missense_Mutation_p.V359L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	359					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)									0.306452	52.815946	54.879162	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87011402	87011402	4033	7	G	T	T	T	572	44	CROT	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110477365G>A	uc003yne.2	+	c.8304G>A	c.(8302-8304)GGG>GGA	p.G2768G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2768	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.626667	157.653652	158.722346	47	28	KEEP	---	---	---	---	capture		Silent	SNP	110477365	110477365	12397	8	G	A	A	A	548	43	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	114326822	114326822	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114326822G>T	uc003ynu.2	-	c.379C>A	c.(379-381)CAT>AAT	p.H127N	CSMD3_uc003ynt.2_Missense_Mutation_p.H87N|CSMD3_uc011lhx.1_Missense_Mutation_p.H127N|CSMD3_uc010mcx.1_Missense_Mutation_p.H127N|CSMD3_uc003ynx.3_Missense_Mutation_p.H127N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	127	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.107143	8.911308	21.777299	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114326822	114326822	4087	8	G	T	T	T	585	45	CSMD3	2	2
SNTB1	6641	broad.mit.edu	37	8	121706015	121706015	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121706015G>A	uc010mdg.2	-	c.705C>T	c.(703-705)TTC>TTT	p.F235F	SNTB1_uc003ype.2_Silent_p.F235F	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	235	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(3)	3	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)											0.08	0.59095	14.086838	6	69	KEEP	---	---	---	---	capture		Silent	SNP	121706015	121706015	15372	8	G	A	A	A	425	33	SNTB1	2	2
ADCY8	114	broad.mit.edu	37	8	132051897	132051897	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:132051897G>A	uc003ytd.3	-	c.683C>T	c.(682-684)GCC>GTC	p.A228V	ADCY8_uc010mds.2_Missense_Mutation_p.A228V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	228	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.148148	14.700902	21.087931	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132051897	132051897	301	8	G	A	A	A	546	42	ADCY8	2	2
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139824060G>T	uc003yvd.2	-	c.1431C>A	c.(1429-1431)TCC>TCA	p.S477S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.084337	1.320793	15.826887	7	76	KEEP	---	---	---	---	capture		Silent	SNP	139824060	139824060	3819	8	G	T	T	T	444	35	COL22A1	2	2
DLGAP2	9228	broad.mit.edu	37	8	1574992	1574992	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:1574992C>A	uc003wpl.2	+	c.1289C>A	c.(1288-1290)TCC>TAC	p.S430Y	DLGAP2_uc003wpm.2_Missense_Mutation_p.S430Y	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	509					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)										0.625	15.78612	15.902063	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1574992	1574992	4740	8	C	A	A	A	390	30	DLGAP2	2	2
DOCK5	80005	broad.mit.edu	37	8	25136098	25136098	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25136098G>T	uc003xeg.2	+	c.238G>T	c.(238-240)GTG>TTG	p.V80L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xef.2_Missense_Mutation_p.V80L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	80						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)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		Pancreas(145;34 1887 3271 10937 30165)								0.473684	30.375107	30.386443	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25136098	25136098	4874	8	G	T	T	T	520	40	DOCK5	1	1
KCNU1	157855	broad.mit.edu	37	8	36788633	36788633	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36788633C>A	uc010lvw.2	+	c.2901C>A	c.(2899-2901)TCC>TCA	p.S967S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	967	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.122905	27.919563	52.840861	22	157	KEEP	---	---	---	---	capture		Silent	SNP	36788633	36788633	8398	8	C	A	A	A	301	24	KCNU1	2	2
PXDNL	137902	broad.mit.edu	37	8	52322075	52322075	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52322075G>C	uc003xqu.3	-	c.2109C>G	c.(2107-2109)ATC>ATG	p.I703M	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	703					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.641026	92.403719	93.100084	25	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52322075	52322075	13306	8	G	C	C	C	473	37	PXDNL	3	3
RGS20	8601	broad.mit.edu	37	8	54792025	54792025	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54792025G>T	uc003xrp.2	+	c.373G>T	c.(373-375)GGC>TGC	p.G125C	RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	regulator of G-protein signaling 20 isoform a	125					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)											0.65	38.777348	39.173866	13	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54792025	54792025	13777	8	G	T	T	T	559	43	RGS20	2	2
RDH10	157506	broad.mit.edu	37	8	74231418	74231418	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74231418G>T	uc003xzi.2	+	c.613G>T	c.(613-615)GCC>TCC	p.A205S	RDH10_uc003xzj.2_Missense_Mutation_p.A40S	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10	205					oxidation-reduction process|retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity				0	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)											0.149485	50.568286	73.417806	29	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74231418	74231418	13658	8	G	T	T	T	598	46	RDH10	2	2
RAD54B	25788	broad.mit.edu	37	8	95390564	95390564	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95390564C>A	uc003ygk.2	-	c.2359G>T	c.(2359-2361)GGT>TGT	p.G787C		NM_012415	NP_036547	Q9Y620	RA54B_HUMAN	RAD54 homolog B	787	Helicase C-terminal.				mitotic recombination|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA helicase activity|RNA helicase activity			kidney(2)|lung(1)	3	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)											0.521739	38.800314	38.80971	12	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95390564	95390564	13452	8	C	A	A	A	312	24	RAD54B	2	2
PTDSS1	9791	broad.mit.edu	37	8	97312032	97312032	+	Silent	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97312032C>T	uc003yht.1	+	c.711C>T	c.(709-711)TGC>TGT	p.C237C	PTDSS1_uc003yhu.1_Silent_p.C91C	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	237	Helical; (Potential).				phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)									0.606838	218.749004	219.936587	71	46	KEEP	---	---	---	---	capture		Silent	SNP	97312032	97312032	13190	8	C	T	T	T	337	26	PTDSS1	2	2
OR13C5	138799	broad.mit.edu	37	9	107361215	107361215	+	Silent	SNP	T	G	G			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107361215T>G	uc011lvp.1	-	c.480A>C	c.(478-480)ACA>ACC	p.T160T		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3														0.253012	50.133365	54.733903	21	62	KEEP	---	---	---	---	capture		Silent	SNP	107361215	107361215	11343	9	T	G	G	G	704	55	OR13C5	4	4
FKTN	2218	broad.mit.edu	37	9	108380278	108380278	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:108380278G>C	uc004bcr.2	+	c.949G>C	c.(949-951)GAT>CAT	p.D317H	FKTN_uc011lvx.1_Missense_Mutation_p.D317H|FKTN_uc004bcs.2_Missense_Mutation_p.D317H|FKTN_uc011lvy.1_Intron|FKTN_uc010mtm.2_Missense_Mutation_p.D185H	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	317	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3														0.214286	18.036483	20.145351	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108380278	108380278	6157	9	G	C	C	C	429	33	FKTN	3	3
TLR4	7099	broad.mit.edu	37	9	120475528	120475528	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120475528C>A	uc004bjz.2	+	c.1122C>A	c.(1120-1122)AGC>AGA	p.S374R	TLR4_uc004bka.2_Missense_Mutation_p.S334R|TLR4_uc004bkb.2_Missense_Mutation_p.S174R	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	374	LRR 11.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.235294	27.597707	30.851716	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120475528	120475528	16483	9	C	A	A	A	337	26	TLR4	2	2
GPR21	2844	broad.mit.edu	37	9	125797349	125797349	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125797349G>T	uc011lzk.1	+	c.504G>T	c.(502-504)TGG>TGT	p.W168C	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	168	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.313131	82.517802	85.580474	31	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125797349	125797349	6956	9	G	T	T	T	559	43	GPR21	2	2
LAMC3	10319	broad.mit.edu	37	9	133945149	133945149	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133945149G>C	uc004caa.1	+	c.2981G>C	c.(2980-2982)TGT>TCT	p.C994S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	994	Laminin EGF-like 11.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)										0.375	9.222793	9.332628	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133945149	133945149	8939	9	G	C	C	C	624	48	LAMC3	3	3
SDCCAG3	10807	broad.mit.edu	37	9	139301807	139301807	+	Silent	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139301807G>A	uc004chi.2	-	c.609C>T	c.(607-609)GCC>GCT	p.A203A	SDCCAG3_uc004chj.2_Silent_p.A180A|SDCCAG3_uc004chk.2_Silent_p.A130A	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	203						cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)										0.666667	13.801997	13.949617	4	2	KEEP	---	---	---	---	capture		Silent	SNP	139301807	139301807	14443	9	G	A	A	A	496	39	SDCCAG3	1	1
PNPLA7	375775	broad.mit.edu	37	9	140400120	140400120	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140400120C>A	uc010ncj.1	-	c.1419G>T	c.(1417-1419)TCG>TCT	p.S473S	C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Silent_p.S448S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity				0	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)										0.450704	98.587185	98.737786	32	39	KEEP	---	---	---	---	capture		Silent	SNP	140400120	140400120	12597	9	C	A	A	A	288	23	PNPLA7	1	1
FAM75A2	642265	broad.mit.edu	37	9	39361081	39361081	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:39361081A>T	uc004abm.2	+	c.3319A>T	c.(3319-3321)ATT>TTT	p.I1107F		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	hypothetical protein LOC642265	1107						integral to membrane					0				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.437768	329.574629	330.347927	102	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39361081	39361081	5844	9	A	T	T	T	208	16	FAM75A2	3	3
DOCK8	81704	broad.mit.edu	37	9	446549	446549	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:446549C>A	uc003zgf.2	+	c.5760C>A	c.(5758-5760)ACC>ACA	p.T1920T	DOCK8_uc010mgu.2_Silent_p.T1222T|DOCK8_uc010mgv.2_Silent_p.T1820T|DOCK8_uc003zgk.2_Silent_p.T1378T	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1920					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.254237	37.935695	41.144595	15	44	KEEP	---	---	---	---	capture		Silent	SNP	446549	446549	4877	9	C	A	A	A	262	21	DOCK8	2	2
FAM75A5	727905	broad.mit.edu	37	9	65508190	65508190	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:65508190G>T	uc004adx.3	-	c.193C>A	c.(193-195)CCA>ACA	p.P65T		NM_015667	NP_056482	Q5VU36	F75A5_HUMAN	hypothetical protein LOC26165	65						integral to membrane					0														0.223958	89.220033	102.679911	43	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65508190	65508190	5846	9	G	T	T	T	533	41	FAM75A5	2	2
PGM5	5239	broad.mit.edu	37	9	71098793	71098793	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71098793G>T	uc004agr.2	+	c.1308G>T	c.(1306-1308)GAG>GAT	p.E436D		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	436					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.18	16.830345	21.670816	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71098793	71098793	12224	9	G	T	T	T	451	35	PGM5	2	2
FLJ46321	389763	broad.mit.edu	37	9	84607486	84607486	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607486G>T	uc004amn.2	+	c.2101G>T	c.(2101-2103)GGC>TGC	p.G701C		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	701						integral to membrane					0														0.1875	10.230353	13.159275	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607486	84607486	6174	9	G	T	T	T	559	43	FLJ46321	2	2
NOL8	55035	broad.mit.edu	37	9	95076672	95076672	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95076672C>A	uc004arv.2	-	c.2235G>T	c.(2233-2235)TCG>TCT	p.S745S	NOL8_uc010mqw.2_Non-coding_Transcript|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.S677S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	745					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1														0.321429	26.065642	26.858413	9	19	KEEP	---	---	---	---	capture		Silent	SNP	95076672	95076672	10930	9	C	A	A	A	236	19	NOL8	1	1
WNK2	65268	broad.mit.edu	37	9	96061494	96061494	+	Silent	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96061494G>T	uc004ati.1	+	c.6177G>T	c.(6175-6177)TCG>TCT	p.S2059S	WNK2_uc011lud.1_Silent_p.S2022S|WNK2_uc004atj.2_Silent_p.S2022S|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Silent_p.S616S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2059					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|large_intestine(1)|central_nervous_system(1)	7										1420				0.258065	19.658069	21.328721	8	23	KEEP	---	---	---	---	capture		Silent	SNP	96061494	96061494	17952	9	G	T	T	T	496	39	WNK2	1	1
NOX1	27035	broad.mit.edu	37	X	100117173	100117173	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100117173C>T	uc004egj.2	-	c.791G>A	c.(790-792)GGG>GAG	p.G264E	NOX1_uc004egl.3_Missense_Mutation_p.G264E|NOX1_uc010nne.2_Missense_Mutation_p.G227E	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	264	Ferric oxidoreductase.|Extracellular (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|NADP metabolic process|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|NADP binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1														0.520833	83.948785	83.965754	25	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100117173	100117173	10960	23	C	T	T	T	286	22	NOX1	2	2
COL4A6	1288	broad.mit.edu	37	X	107422489	107422489	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107422489G>T	uc004enw.3	-	c.2314C>A	c.(2314-2316)CAC>AAC	p.H772N	COL4A6_uc004env.3_Missense_Mutation_p.H771N|COL4A6_uc011msn.1_Missense_Mutation_p.H771N|COL4A6_uc010npk.2_Missense_Mutation_p.H771N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	772	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.4375	40.507565	40.622068	14	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107422489	107422489	3833	23	G	T	T	T	598	46	COL4A6	2	2
COL4A6	1288	broad.mit.edu	37	X	107422492	107422492	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107422492C>T	uc004enw.3	-	c.2311G>A	c.(2311-2313)GGG>AGG	p.G771R	COL4A6_uc004env.3_Missense_Mutation_p.G770R|COL4A6_uc011msn.1_Missense_Mutation_p.G770R|COL4A6_uc010npk.2_Missense_Mutation_p.G770R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	771	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.451613	46.44824	46.511198	14	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107422492	107422492	3833	23	C	T	T	T	312	24	COL4A6	2	2
ZCCHC16	340595	broad.mit.edu	37	X	111698292	111698292	+	Silent	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111698292C>A	uc004epo.1	+	c.336C>A	c.(334-336)ATC>ATA	p.I112I		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	112							nucleic acid binding|zinc ion binding			ovary(1)	1														0.486486	55.247671	55.253542	18	19	KEEP	---	---	---	---	capture		Silent	SNP	111698292	111698292	18172	23	C	A	A	A	369	29	ZCCHC16	2	2
TLR8	51311	broad.mit.edu	37	X	12939284	12939284	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12939284G>T	uc004cvd.2	+	c.2179G>T	c.(2179-2181)GAC>TAC	p.D727Y	TLR8_uc004cve.2_Missense_Mutation_p.D709Y	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	709	LRR 21.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane|integral to membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|large_intestine(1)	5														0.642857	89.134811	89.889371	27	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12939284	12939284	16487	23	G	T	T	T	585	45	TLR8	2	2
ZNF75D	7626	broad.mit.edu	37	X	134426361	134426361	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134426361C>A	uc004eyp.2	-	c.450G>T	c.(448-450)TTG>TTT	p.L150F	ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	zinc finger protein 75	150					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.322034	56.724349	58.373343	19	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134426361	134426361	18732	23	C	A	A	A	272	21	ZNF75D	2	2
CNGA2	1260	broad.mit.edu	37	X	150912097	150912097	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150912097G>A	uc004fey.1	+	c.1122G>A	c.(1120-1122)ATG>ATA	p.M374I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	374	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.318182	39.034403	40.327323	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150912097	150912097	3735	23	G	A	A	A	585	45	CNGA2	2	2
CSAG1	158511	broad.mit.edu	37	X	151908930	151908930	+	Splice_Site_SNP	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151908930C>T	uc004fge.2	+	c.167_splice	c.e4+2	p.R56_splice	CSAG1_uc004fgf.2_Splice_Site_SNP_p.R56_splice|CSAG1_uc004fgd.2_Splice_Site_SNP	NM_153478	NP_705611			chondrosarcoma associated gene 1 precursor											ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.309278	83.960775	87.079116	30	67	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	151908930	151908930	4065	23	C	T	T	T	351	27	CSAG1	5	1
CTPS2	56474	broad.mit.edu	37	X	16696555	16696555	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16696555G>C	uc004cxk.2	-	c.1024C>G	c.(1024-1026)CTG>GTG	p.L342V	CTPS2_uc004cxl.2_Missense_Mutation_p.L342V|CTPS2_uc004cxm.2_Missense_Mutation_p.L342V	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	342	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)													0.230769	8.418002	9.281575	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16696555	16696555	4182	23	G	C	C	C	425	33	CTPS2	3	3
IL1RAPL1	11141	broad.mit.edu	37	X	29417357	29417357	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29417357G>T	uc004dby.2	+	c.635G>T	c.(634-636)GGA>GTA	p.G212V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	212	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.52381	33.523926	33.53416	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29417357	29417357	7962	23	G	T	T	T	533	41	IL1RAPL1	2	2
PHF8	23133	broad.mit.edu	37	X	54020195	54020195	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54020195C>T	uc004dsu.2	-	c.1573G>A	c.(1573-1575)GGT>AGT	p.G525S	PHF8_uc004dst.2_Missense_Mutation_p.G489S|PHF8_uc004dsv.2_Missense_Mutation_p.G355S|PHF8_uc004dsw.2_Intron|PHF8_uc004dsx.2_Missense_Mutation_p.G253S|PHF8_uc004dsy.2_Missense_Mutation_p.G489S	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	525					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|oxidation-reduction process|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3														0.666667	72.056818	72.867281	22	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54020195	54020195	12263	23	C	T	T	T	273	21	PHF8	2	2
ATP7A	538	broad.mit.edu	37	X	77301004	77301004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77301004G>A	uc004ecx.3	+	c.4161G>A	c.(4159-4161)TGG>TGA	p.W1387*		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1387	Helical; (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0														0.5625	182.304289	182.64281	54	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77301004	77301004	1209	23	G	A	A	A	533	41	ATP7A	5	2
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	-	rs35089393;rs71025763;rs71454096	by1000genomes	TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	uc001lty.2	+	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)GGAGGCTGTGGGGGCTGTGGCTCCGGCTGTGCG>GGG	p.GCGGCGSGCA44del		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44_53				A -> G (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.63			17	10		---	---	---	---	capture_indel		In_Frame_Del	DEL	1651199	1651228	8886	11	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	-	-	132	11	KRTAP5-5	5	5
UNC45B	146862	broad.mit.edu	37	17	33510550	33510550	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33510550_33510550delG	uc002hja.2	+	c.2484_2484delG	c.(2482-2484)CTGfs	p.L828fs	UNC45B_uc002hjb.2_Frame_Shift_Del_p.L826fs|UNC45B_uc002hjc.2_Frame_Shift_Del_p.L826fs|UNC45B_uc010cto.2_Frame_Shift_Del_p.L747fs	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	828					cell differentiation|muscle organ development		binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)												0.44			19	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	33510550	33510550	17547	17	G	-	-	-	600	47	UNC45B	5	5
ZIK1	284307	broad.mit.edu	37	19	58101828	58101828	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58101828_58101828delG	uc002qpg.2	+	c.649_649delG	c.(649-651)GGGfs	p.G217fs	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Frame_Shift_Del_p.G162fs|ZIK1_uc002qpi.2_Frame_Shift_Del_p.G204fs|ZIK1_uc002qpj.2_Frame_Shift_Del_p.G114fs	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.60			30	20		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	58101828	58101828	18274	19	G	-	-	-	611	47	ZIK1	5	5
CTNNA2	1496	broad.mit.edu	37	2	80085218	80085218	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80085218_80085218delG	uc010ysh.1	+	c.378_378delG	c.(376-378)GCGfs	p.A126fs	CTNNA2_uc010yse.1_Frame_Shift_Del_p.A126fs|CTNNA2_uc010ysf.1_Frame_Shift_Del_p.A126fs|CTNNA2_uc010ysg.1_Frame_Shift_Del_p.A126fs	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	126					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.36			31	56		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	80085218	80085218	4172	2	G	-	-	-	496	39	CTNNA2	5	5
THOC3	84321	broad.mit.edu	37	5	175394224	175394234	+	Frame_Shift_Del	DEL	AGCTGGTCCAC	-	-			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175394224_175394234delAGCTGGTCCAC	uc003mdh.2	-	c.385_395delGTGGACCAGCT	c.(385-396)GTGGACCAGCTTfs	p.V129fs	THOC3_uc003mdg.3_Frame_Shift_Del_p.V102fs	NM_032361	NP_115737	Q96J01	THOC3_HUMAN	THO complex 3	102_105	WD 2.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding				0	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)										0.37			7	12		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	175394224	175394234	16394	5	AGCTGGTCCAC	-	-	-	39	3	THOC3	5	5
PLXNA4	91584	broad.mit.edu	37	7	131831322	131831322	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5428-01	TCGA-05-5428-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131831322_131831322delG	uc003vra.3	-	c.5002_5002delC	c.(5002-5004)CGGfs	p.R1668fs	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1668	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.49			231	242		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	131831322	131831322	12548	7	G	-	-	-	506	39	PLXNA4	5	5
