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
FAM178A	55719	broad.mit.edu	37	10	102684599	102684599	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102684599G>T	uc001krs.2	+	c.1841G>T	c.(1840-1842)AGT>ATT	p.S614I	FAM178A_uc001krr.1_Missense_Mutation_p.S614I|FAM178A_uc001krt.3_Missense_Mutation_p.S614I|FAM178A_uc001kru.1_Missense_Mutation_p.S549I	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 2	614											0														0.106667	7.142176	18.663738	8	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102684599	102684599	5709	10	G	T	T	T	468	36	FAM178A	2	2
SORCS1	114815	broad.mit.edu	37	10	108357110	108357110	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108357110C>A	uc001kyl.2	-	c.3264G>T	c.(3262-3264)GCG>GCT	p.A1088A	SORCS1_uc001kym.2_Silent_p.A1088A|SORCS1_uc009xxs.2_Silent_p.A1088A|SORCS1_uc001kyn.1_Silent_p.A1088A|SORCS1_uc001kyo.2_Silent_p.A1088A	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	1088	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.255814	28.505086	30.830205	11	32	KEEP	---	---	---	---	capture		Silent	SNP	108357110	108357110	15430	10	C	A	A	A	288	23	SORCS1	1	1
NRAP	4892	broad.mit.edu	37	10	115389428	115389428	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115389428C>A	uc001lal.3	-	c.1959G>T	c.(1957-1959)AGG>AGT	p.R653S	NRAP_uc009xyb.2_5'Flank|NRAP_uc001laj.2_Missense_Mutation_p.R653S|NRAP_uc001lak.2_Missense_Mutation_p.R618S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	653	Nebulin 15.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.349206	61.128853	62.393941	22	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115389428	115389428	11043	10	C	A	A	A	389	30	NRAP	2	2
DOCK1	1793	broad.mit.edu	37	10	129218009	129218009	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129218009G>T	uc010qun.1	+	c.4772G>T	c.(4771-4773)TGG>TTG	p.W1591L	DOCK1_uc001ljt.2_Missense_Mutation_p.W1570L|DOCK1_uc009yaq.2_Missense_Mutation_p.W565L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1570	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)										0.272727	8.420003	8.932185	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129218009	129218009	4868	10	G	T	T	T	611	47	DOCK1	2	2
DOCK1	1793	broad.mit.edu	37	10	129224177	129224177	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129224177A>T	uc010qun.1	+	c.4816A>T	c.(4816-4818)AAA>TAA	p.K1606*	DOCK1_uc001ljt.2_Nonsense_Mutation_p.K1585*|DOCK1_uc009yaq.2_Nonsense_Mutation_p.K580*	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1585	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)										0.194118	73.077166	87.917268	33	137	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129224177	129224177	4868	10	A	T	T	T	65	5	DOCK1	5	3
FRMD4A	55691	broad.mit.edu	37	10	13779903	13779904	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13779903_13779904CC>AA	uc001ims.2	-	c.699_700GG>TT	c.(697-702)CTGGGC>CTTTGC	p.G234C	FRMD4A_uc009xjf.1_Missense_Mutation_p.G234C|FRMD4A_uc001imt.1_Missense_Mutation_p.G267C|FRMD4A_uc001imu.1_Missense_Mutation_p.G250C	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	234	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|pancreas(1)	2														0.235294	20.182898	22.361493	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	13779903	13779904	6301	10	CC	AA	AA	AA	286	22	FRMD4A	2	2
ADARB2	105	broad.mit.edu	37	10	1405977	1405977	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:1405977C>A	uc009xhq.2	-	c.323G>T	c.(322-324)GGC>GTC	p.G108V		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	108					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)						191				0.157895	4.713274	6.833977	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1405977	1405977	284	10	C	A	A	A	338	26	ADARB2	2	2
CUBN	8029	broad.mit.edu	37	10	17157575	17157575	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17157575C>A	uc001ioo.2	-	c.615G>T	c.(613-615)ACG>ACT	p.T205T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	205	EGF-like 2; calcium-binding (Potential).				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				0.068966	-1.840086	9.29084	4	54	KEEP	---	---	---	---	capture		Silent	SNP	17157575	17157575	4211	10	C	A	A	A	236	19	CUBN	1	1
ZNF248	57209	broad.mit.edu	37	10	38121619	38121619	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38121619C>A	uc001izd.1	-	c.664G>T	c.(664-666)GGC>TGC	p.G222C	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G222C	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.28169	53.967769	57.009766	20	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38121619	38121619	18384	10	C	A	A	A	312	24	ZNF248	2	2
PLA2G12B	84647	broad.mit.edu	37	10	74714335	74714335	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74714335G>C	uc001jtf.1	-	c.109C>G	c.(109-111)CGG>GGG	p.R37G	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R37G	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	37					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)													0.188235	40.852083	48.58215	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74714335	74714335	12417	10	G	C	C	C	480	37	PLA2G12B	3	3
KCNMA1	3778	broad.mit.edu	37	10	78647067	78647067	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78647067T>A	uc001jxn.2	-	c.3668A>T	c.(3667-3669)GAG>GTG	p.E1223V	KCNMA1_uc001jxj.2_Missense_Mutation_p.E1169V|KCNMA1_uc001jxk.1_Missense_Mutation_p.E841V|KCNMA1_uc009xrt.1_Missense_Mutation_p.E1014V|KCNMA1_uc001jxl.1_Missense_Mutation_p.E848V|KCNMA1_uc001jxo.2_Missense_Mutation_p.E1206V|KCNMA1_uc001jxm.2_Missense_Mutation_p.E1165V|KCNMA1_uc001jxq.2_Missense_Mutation_p.E1195V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1223	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.082857	-3.687678	58.252912	29	321	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78647067	78647067	8378	10	T	A	A	A	702	54	KCNMA1	3	3
LIPN	643418	broad.mit.edu	37	10	90537933	90537933	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90537933C>T	uc010qmw.1	+	c.1131C>T	c.(1129-1131)GTC>GTT	p.V377V		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	377					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)										0.25	18.710448	20.301945	7	21	KEEP	---	---	---	---	capture		Silent	SNP	90537933	90537933	9156	10	C	T	T	T	405	32	LIPN	2	2
EXOC6	54536	broad.mit.edu	37	10	94679738	94679738	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94679738G>T	uc010qnr.1	+	c.868_splice	c.e9-1	p.I290_splice	EXOC6_uc001kie.2_Splice_Site_SNP_p.I269_splice|EXOC6_uc001kig.2_Splice_Site_SNP_p.I274_splice|EXOC6_uc009xub.2_Splice_Site_SNP_p.I274_splice|EXOC6_uc009xuc.2_Intron	NM_001013848	NP_001013870			SEC15-like 1 isoform b						protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.333333	8.321756	8.543283	3	6	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	94679738	94679738	5501	10	G	T	T	T	429	33	EXOC6	5	2
SLIT1	6585	broad.mit.edu	37	10	98761095	98761095	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98761095C>A	uc001kmw.2	-	c.4379G>T	c.(4378-4380)CGG>CTG	p.R1460L		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1460	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.333333	28.031941	28.774014	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98761095	98761095	15237	10	C	A	A	A	299	23	SLIT1	1	1
CNTN5	53942	broad.mit.edu	37	11	100169965	100169965	+	Silent	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100169965T>A	uc001pga.2	+	c.2457T>A	c.(2455-2457)CGT>CGA	p.R819R	CNTN5_uc001pfz.2_Silent_p.R819R|CNTN5_uc001pgb.2_Silent_p.R745R|CNTN5_uc010ruk.1_Silent_p.R90R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	819	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.212766	22.426137	26.008314	10	37	KEEP	---	---	---	---	capture		Silent	SNP	100169965	100169965	3782	11	T	A	A	A	756	59	CNTN5	3	3
MUC2	4583	broad.mit.edu	37	11	1101153	1101153	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1101153T>A	uc001lsx.1	+	c.14638T>A	c.(14638-14640)TGC>AGC	p.C4880S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4880	VWFC 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.272727	8.620474	9.13235	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1101153	1101153	10369	11	T	A	A	A	715	55	MUC2	3	3
ARHGAP20	57569	broad.mit.edu	37	11	110462849	110462849	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110462849C>A	uc001pkz.1	-	c.995G>T	c.(994-996)AGA>ATA	p.R332I	ARHGAP20_uc001pky.1_Missense_Mutation_p.R309I|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R296I|ARHGAP20_uc001pla.1_Missense_Mutation_p.R296I|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)										0.135135	19.941574	34.27379	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110462849	110462849	881	11	C	A	A	A	416	32	ARHGAP20	2	2
BUD13	84811	broad.mit.edu	37	11	116633908	116633908	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116633908G>A	uc001ppn.2	-	c.397C>T	c.(397-399)CAT>TAT	p.H133Y	BUD13_uc001ppo.2_Missense_Mutation_p.H133Y|BUD13_uc009yzc.2_Missense_Mutation_p.H133Y	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	133	Arg-rich.									large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)										0.294118	131.761047	138.225129	50	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116633908	116633908	1607	11	G	A	A	A	585	45	BUD13	2	2
TECTA	7007	broad.mit.edu	37	11	121028887	121028887	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121028887A>G	uc010rzo.1	+	c.4643A>G	c.(4642-4644)TAC>TGC	p.Y1548C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1548	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.169421	90.820527	115.884197	41	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121028887	121028887	16274	11	A	G	G	G	182	14	TECTA	4	4
OR8D1	283159	broad.mit.edu	37	11	124179838	124179838	+	Silent	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124179838A>G	uc010sag.1	-	c.825T>C	c.(823-825)TCT>TCC	p.S275S		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.395062	88.46411	89.249827	32	49	KEEP	---	---	---	---	capture		Silent	SNP	124179838	124179838	11642	11	A	G	G	G	80	7	OR8D1	4	4
OR8B8	26493	broad.mit.edu	37	11	124310147	124310147	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124310147T>A	uc010sal.1	-	c.835A>T	c.(835-837)ACC>TCC	p.T279S		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.325581	77.073282	79.393085	28	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124310147	124310147	11641	11	T	A	A	A	741	57	OR8B8	3	3
ETS1	2113	broad.mit.edu	37	11	128359204	128359204	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128359204A>T	uc001qej.2	-	c.516T>A	c.(514-516)CAT>CAA	p.H172Q	ETS1_uc010sbs.1_Missense_Mutation_p.H128Q|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.H128Q	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	128	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.063985	-30.614909	77.543754	35	512	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128359204	128359204	5468	11	A	T	T	T	154	12	ETS1	3	3
CALCB	797	broad.mit.edu	37	11	15098940	15098940	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15098940C>A	uc001mlx.1	+	c.333C>A	c.(331-333)ACC>ACA	p.T111T	CALCB_uc009ygr.1_Silent_p.T111T	NM_000728	NP_000719	P10092	CALCB_HUMAN	calcitonin-related polypeptide, beta precursor	111					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity				0														0.254902	34.157228	36.93256	13	38	KEEP	---	---	---	---	capture		Silent	SNP	15098940	15098940	2692	11	C	A	A	A	262	21	CALCB	2	2
KCNC1	3746	broad.mit.edu	37	11	17793833	17793833	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17793833A>T	uc009yhc.1	+	c.1192A>T	c.(1192-1194)ATG>TTG	p.M398L	KCNC1_uc001mnk.3_Missense_Mutation_p.M398L	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	398						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0														0.324786	107.20589	110.395479	38	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17793833	17793833	8319	11	A	T	T	T	104	8	KCNC1	3	3
FIBIN	387758	broad.mit.edu	37	11	27016184	27016184	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27016184C>G	uc001mrd.2	+	c.111C>G	c.(109-111)TTC>TTG	p.F37L		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	37						extracellular region|Golgi apparatus					0														0.1	3.272264	9.664124	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27016184	27016184	6123	11	C	G	G	G	402	31	FIBIN	3	3
OR51D1	390038	broad.mit.edu	37	11	4661129	4661129	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661129C>T	uc010qyk.1	+	c.109C>T	c.(109-111)CAC>TAC	p.H37Y		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	37	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.144578	52.420202	82.714632	36	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4661129	4661129	11503	11	C	T	T	T	221	17	OR51D1	2	2
OR4S1	256148	broad.mit.edu	37	11	48328563	48328563	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48328563G>T	uc010rhu.1	+	c.789G>T	c.(787-789)CTG>CTT	p.L263L		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.311594	120.473008	124.835775	43	95	KEEP	---	---	---	---	capture		Silent	SNP	48328563	48328563	11492	11	G	T	T	T	600	47	OR4S1	2	2
OR51F2	119694	broad.mit.edu	37	11	4843115	4843115	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4843115T>C	uc010qyn.1	+	c.500T>C	c.(499-501)GTT>GCT	p.V167A		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	167	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.356941	404.163063	410.522031	126	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4843115	4843115	11507	11	T	C	C	C	780	60	OR51F2	4	4
OR51A7	119687	broad.mit.edu	37	11	4928916	4928916	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4928916G>T	uc010qyq.1	+	c.317G>T	c.(316-318)GGA>GTA	p.G106V		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.322222	75.247713	77.77148	29	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4928916	4928916	11498	11	G	T	T	T	533	41	OR51A7	2	2
MMP26	56547	broad.mit.edu	37	11	5009450	5009450	+	Silent	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5009450C>G	uc001lzv.2	+	c.9C>G	c.(7-9)CTC>CTG	p.L3L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	3					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)								OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.375	109.574628	110.773481	33	55	KEEP	---	---	---	---	capture		Silent	SNP	5009450	5009450	10054	11	C	G	G	G	392	31	MMP26	3	3
OR4C11	219429	broad.mit.edu	37	11	55370922	55370922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55370922C>A	uc010rii.1	-	c.928G>T	c.(928-930)GGA>TGA	p.G310*		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.478261	35.823768	35.833237	11	12	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55370922	55370922	11451	11	C	A	A	A	312	24	OR4C11	5	2
OR4C11	219429	broad.mit.edu	37	11	55371655	55371655	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55371655G>A	uc010rii.1	-	c.195C>T	c.(193-195)TCC>TCT	p.S65S		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.325581	82.372742	84.692823	28	58	KEEP	---	---	---	---	capture		Silent	SNP	55371655	55371655	11451	11	G	A	A	A	444	35	OR4C11	2	2
OR9G4	283189	broad.mit.edu	37	11	56510823	56510823	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56510823G>C	uc010rjo.1	-	c.465C>G	c.(463-465)CTC>CTG	p.L155L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.299435	160.404141	166.767435	53	124	KEEP	---	---	---	---	capture		Silent	SNP	56510823	56510823	11662	11	G	C	C	C	418	33	OR9G4	3	3
OR9I1	219954	broad.mit.edu	37	11	57886056	57886056	+	Silent	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57886056A>T	uc001nml.1	-	c.861T>A	c.(859-861)CCT>CCA	p.P287P	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.296875	102.899836	107.622671	38	90	KEEP	---	---	---	---	capture		Silent	SNP	57886056	57886056	11664	11	A	T	T	T	132	11	OR9I1	3	3
OR9I1	219954	broad.mit.edu	37	11	57886223	57886223	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57886223C>T	uc001nml.1	-	c.694G>A	c.(694-696)GGT>AGT	p.G232S	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.425	110.937911	111.330426	34	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57886223	57886223	11664	11	C	T	T	T	312	24	OR9I1	2	2
MS4A1	931	broad.mit.edu	37	11	60231794	60231794	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60231794G>T	uc001npp.2	+	c.313G>T	c.(313-315)GAG>TAG	p.E105*	MS4A1_uc001npq.2_Nonsense_Mutation_p.E105*|MS4A1_uc009yna.2_Nonsense_Mutation_p.E105*|MS4A1_uc009ymz.2_Nonsense_Mutation_p.E105*|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	105	Helical; (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)	3					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)									0.37037	55.385953	56.183247	20	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60231794	60231794	10247	11	G	T	T	T	533	41	MS4A1	5	2
FAM160A2	84067	broad.mit.edu	37	11	6238994	6238994	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6238994C>G	uc001mck.3	-	c.1864G>C	c.(1864-1866)GAA>CAA	p.E622Q	FAM160A2_uc001mcl.3_Missense_Mutation_p.E608Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.E608Q	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 1	608					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding				0														0.214286	24.15271	27.317708	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6238994	6238994	5673	11	C	G	G	G	390	30	FAM160A2	3	3
SHANK2	22941	broad.mit.edu	37	11	70333298	70333298	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70333298T>C	uc001oqc.2	-	c.3100A>G	c.(3100-3102)ATC>GTC	p.I1034V	SHANK2_uc010rqn.1_Missense_Mutation_p.I446V|SHANK2_uc001opz.2_Missense_Mutation_p.I439V|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	655					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.2	6.084272	7.765117	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70333298	70333298	14757	11	T	C	C	C	663	51	SHANK2	4	4
DHCR7	1717	broad.mit.edu	37	11	71155932	71155932	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71155932T>C	uc001oqk.2	-	c.67A>G	c.(67-69)ACC>GCC	p.T23A	DHCR7_uc001oql.2_Missense_Mutation_p.T23A	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	23					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)									0.12	18.830149	32.993767	12	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71155932	71155932	4656	11	T	C	C	C	780	60	DHCR7	4	4
KRTAP5-7	440050	broad.mit.edu	37	11	71238469	71238469	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71238469C>G	uc001oqq.1	+	c.123C>G	c.(121-123)TGC>TGG	p.C41W		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	41	7 X 4 AA repeats of C-C-X-P.|2.					keratin filament					0														0.298507	106.240512	111.109861	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71238469	71238469	8888	11	C	G	G	G	363	28	KRTAP5-7	3	3
XRRA1	143570	broad.mit.edu	37	11	74651834	74651834	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74651834C>G	uc009yub.2	-	c.90G>C	c.(88-90)GAG>GAC	p.E30D	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Missense_Mutation_p.E30D|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	30					response to X-ray	cytoplasm|nucleus					0														0.487805	60.294632	60.300046	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74651834	74651834	18044	11	C	G	G	G	311	24	XRRA1	3	3
CCDC83	220047	broad.mit.edu	37	11	85630467	85630467	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85630467G>C	uc001pbg.1	+	c.1249G>C	c.(1249-1251)GAG>CAG	p.E417Q	CCDC83_uc001pbh.1_Missense_Mutation_p.E386Q|CCDC83_uc001pbi.1_Non-coding_Transcript|CCDC83_uc001pbj.1_Missense_Mutation_p.E286Q	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	386											0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.113208	17.921158	33.570153	12	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85630467	85630467	2981	11	G	C	C	C	429	33	CCDC83	3	3
TCTN1	79600	broad.mit.edu	37	12	111078943	111078943	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111078943C>G	uc001trn.3	+	c.1093C>G	c.(1093-1095)CAT>GAT	p.H365D	TCTN1_uc009zvr.1_Non-coding_Transcript|TCTN1_uc001trl.2_Non-coding_Transcript|TCTN1_uc001trm.2_Missense_Mutation_p.H305D|TCTN1_uc010syc.1_Non-coding_Transcript|TCTN1_uc001tro.2_Non-coding_Transcript|TCTN1_uc001trp.3_Missense_Mutation_p.H351D|TCTN1_uc009zvs.2_Missense_Mutation_p.H365D|TCTN1_uc001trj.1_Missense_Mutation_p.H309D|TCTN1_uc001trk.3_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	tectonic family member 1 isoform 1	365					multicellular organismal development	extracellular region					0														0.087719	2.72843	12.530269	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111078943	111078943	16248	12	C	G	G	G	377	29	TCTN1	3	3
WDR66	144406	broad.mit.edu	37	12	122399998	122399998	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122399998G>T	uc009zxk.2	+	c.2422G>T	c.(2422-2424)GAA>TAA	p.E808*		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	808							calcium ion binding			ovary(1)	1	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		Esophageal Squamous(85;849 1794 49757 52143)								0.134328	12.327694	21.018155	9	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122399998	122399998	17890	12	G	T	T	T	533	41	WDR66	5	2
ATP6V0A2	23545	broad.mit.edu	37	12	124236931	124236931	+	Silent	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124236931A>G	uc001ufr.2	+	c.2157A>G	c.(2155-2157)AGA>AGG	p.R719R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	719	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)										0.153846	20.707163	28.153748	10	55	KEEP	---	---	---	---	capture		Silent	SNP	124236931	124236931	1188	12	A	G	G	G	141	11	ATP6V0A2	4	4
TMEM132D	121256	broad.mit.edu	37	12	129559133	129559133	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129559133G>T	uc009zyl.1	-	c.2587C>A	c.(2587-2589)CAG>AAG	p.Q863K	TMEM132D_uc001uia.2_Missense_Mutation_p.Q401K	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	863	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.211268	33.398094	38.863734	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129559133	129559133	16579	12	G	T	T	T	598	46	TMEM132D	2	2
GSG1	83445	broad.mit.edu	37	12	13243530	13243530	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13243530G>T	uc001rbn.2	-	c.271C>A	c.(271-273)CAA>AAA	p.Q91K	GSG1_uc001rbj.2_Missense_Mutation_p.Q78K|GSG1_uc001rbk.2_Missense_Mutation_p.Q78K|GSG1_uc001rbl.2_Missense_Mutation_p.Q78K|GSG1_uc001rbm.2_Missense_Mutation_p.Q78K|GSG1_uc001rbo.2_Missense_Mutation_p.Q91K|GSG1_uc001rbp.2_Missense_Mutation_p.Q91K|GSG1_uc001rbq.1_Missense_Mutation_p.Q91K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	78						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)										0.063197	-17.951119	35.503397	17	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13243530	13243530	7100	12	G	T	T	T	624	48	GSG1	2	2
GRIN2B	2904	broad.mit.edu	37	12	13716362	13716362	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13716362C>T	uc001rbt.2	-	c.3810G>A	c.(3808-3810)GTG>GTA	p.V1270V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1270	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.434783	59.695099	59.865119	20	26	KEEP	---	---	---	---	capture		Silent	SNP	13716362	13716362	7059	12	C	T	T	T	262	21	GRIN2B	2	2
LRTM2	654429	broad.mit.edu	37	12	1940215	1940215	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1940215C>G	uc001qjt.2	+	c.182C>G	c.(181-183)ACG>AGG	p.T61R	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.T61R|LRTM2_uc010sdx.1_Missense_Mutation_p.T61R|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	61	LRRNT.|Extracellular (Potential).					integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)											0.234043	56.704646	62.787923	22	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1940215	1940215	9421	12	C	G	G	G	247	19	LRTM2	3	3
SLCO1B3	28234	broad.mit.edu	37	12	21051394	21051394	+	Silent	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21051394A>T	uc001rek.2	+	c.1707A>T	c.(1705-1707)GCA>GCT	p.A569A	SLCO1B3_uc001rel.2_Silent_p.A569A|SLCO1B3_uc010sil.1_Silent_p.A569A|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.A394A	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	569	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)	3	Esophageal squamous(101;0.149)													0.194444	17.404936	20.539184	7	29	KEEP	---	---	---	---	capture		Silent	SNP	21051394	21051394	15221	12	A	T	T	T	67	6	SLCO1B3	3	3
IAPP	3375	broad.mit.edu	37	12	21531177	21531177	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21531177G>C	uc001rev.2	+	c.87G>C	c.(85-87)CAG>CAC	p.Q29H	SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor	29					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)									0.208955	28.547685	33.889212	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21531177	21531177	7772	12	G	C	C	C	451	35	IAPP	3	3
CACNA1C	775	broad.mit.edu	37	12	2786943	2786943	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2786943G>A	uc009zdu.1	+	c.5145G>A	c.(5143-5145)CGG>CGA	p.R1715R	CACNA1C_uc009zdv.1_Silent_p.R1664R|CACNA1C_uc001qkb.2_Silent_p.R1667R|CACNA1C_uc001qkc.2_Silent_p.R1686R|CACNA1C_uc001qke.2_Silent_p.R1656R|CACNA1C_uc001qkf.2_Silent_p.R1675R|CACNA1C_uc001qjz.2_Silent_p.R1667R|CACNA1C_uc001qkd.2_Silent_p.R1686R|CACNA1C_uc001qkg.2_Silent_p.R1673R|CACNA1C_uc009zdw.1_Silent_p.R1708R|CACNA1C_uc001qkh.2_Silent_p.R1675R|CACNA1C_uc001qkl.2_Silent_p.R1715R|CACNA1C_uc001qkn.2_Silent_p.R1667R|CACNA1C_uc001qko.2_Silent_p.R1687R|CACNA1C_uc001qkp.2_Silent_p.R1667R|CACNA1C_uc001qkr.2_Silent_p.R1684R|CACNA1C_uc001qku.2_Silent_p.R1667R|CACNA1C_uc001qkq.2_Silent_p.R1695R|CACNA1C_uc001qks.2_Silent_p.R1667R|CACNA1C_uc001qkt.2_Silent_p.R1686R|CACNA1C_uc001qki.1_Silent_p.R1403R|CACNA1C_uc001qkj.1_Silent_p.R1403R|CACNA1C_uc001qkk.1_Silent_p.R1403R|CACNA1C_uc001qkm.1_Silent_p.R1392R|CACNA1C_uc010sea.1_Silent_p.R358R|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1715	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.206897	26.782872	31.390638	12	46	KEEP	---	---	---	---	capture		Silent	SNP	2786943	2786943	2656	12	G	A	A	A	548	43	CACNA1C	2	2
SYT10	341359	broad.mit.edu	37	12	33535420	33535420	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33535420G>T	uc001rll.1	-	c.1234C>A	c.(1234-1236)CGA>AGA	p.R412R	SYT10_uc009zju.1_Silent_p.R222R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	412	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)	1	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)													0.146341	20.74688	30.604435	12	70	KEEP	---	---	---	---	capture		Silent	SNP	33535420	33535420	15987	12	G	T	T	T	480	37	SYT10	1	1
KIF21A	55605	broad.mit.edu	37	12	39698630	39698630	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39698630T>A	uc001rly.2	-	c.4553A>T	c.(4552-4554)TAC>TTC	p.Y1518F	KIF21A_uc001rlv.2_Missense_Mutation_p.Y463F|KIF21A_uc001rlw.2_Missense_Mutation_p.Y788F|KIF21A_uc001rlx.2_Missense_Mutation_p.Y1505F|KIF21A_uc001rlz.2_Missense_Mutation_p.Y1465F|KIF21A_uc010skl.1_Missense_Mutation_p.Y1481F|KIF21A_uc001rlt.2_Missense_Mutation_p.Y138F|KIF21A_uc001rlu.2_Missense_Mutation_p.Y138F	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1518	WD 4.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.217391	11.763273	13.456471	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39698630	39698630	8599	12	T	A	A	A	741	57	KIF21A	3	3
CNTN1	1272	broad.mit.edu	37	12	41386975	41386975	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41386975C>G	uc001rmm.1	+	c.2017C>G	c.(2017-2019)CCA>GCA	p.P673A	CNTN1_uc001rmn.1_Missense_Mutation_p.P662A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	673	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.307692	72.920386	75.949123	28	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41386975	41386975	3778	12	C	G	G	G	286	22	CNTN1	3	3
PDZRN4	29951	broad.mit.edu	37	12	41967396	41967396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41967396C>A	uc010skn.1	+	c.2218C>A	c.(2218-2220)CGC>AGC	p.R740S	PDZRN4_uc001rmq.3_Missense_Mutation_p.R681S|PDZRN4_uc009zjz.2_Missense_Mutation_p.R679S|PDZRN4_uc001rmr.2_Missense_Mutation_p.R566S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	939							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.26875	117.364669	125.080493	43	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41967396	41967396	12131	12	C	A	A	A	351	27	PDZRN4	1	1
ADAMTS20	80070	broad.mit.edu	37	12	43858455	43858455	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43858455T>C	uc010skx.1	-	c.1448A>G	c.(1447-1449)TAT>TGT	p.Y483C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	483	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.38835	132.983713	134.10636	40	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43858455	43858455	267	12	T	C	C	C	637	49	ADAMTS20	4	4
PLEKHA9	51054	broad.mit.edu	37	12	45567059	45567059	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45567059C>A	uc001rom.1	-	c.1090G>T	c.(1090-1092)GAA>TAA	p.E364*	PLEKHA9_uc009zke.2_Nonsense_Mutation_p.E364*	NM_015899	NP_056983			pleckstrin homology domain containing, family A												0	Lung SC(27;0.192)|Renal(347;0.236)			GBM - Glioblastoma multiforme(48;0.173)										0.141791	26.431428	43.020411	19	115	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45567059	45567059	12489	12	C	A	A	A	416	32	PLEKHA9	5	2
NDUFA9	4704	broad.mit.edu	37	12	4796114	4796114	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4796114C>A	uc001qnc.2	+	c.974C>A	c.(973-975)ACA>AAA	p.T325K	NDUFA9_uc010ses.1_Missense_Mutation_p.T106K	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	325					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	Colon(75;996 1244 23946 25294 29232)								0.137931	12.657893	20.01449	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4796114	4796114	10671	12	C	A	A	A	221	17	NDUFA9	2	2
CCNT1	904	broad.mit.edu	37	12	49089837	49089837	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49089837G>A	uc001rse.1	-	c.651C>T	c.(649-651)GAC>GAT	p.D217D	CCNT1_uc009zkz.1_Intron	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	217					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein binding			ovary(3)|lung(1)|breast(1)	5										169				0.275862	42.777295	45.399276	16	42	KEEP	---	---	---	---	capture		Silent	SNP	49089837	49089837	3061	12	G	A	A	A	516	40	CCNT1	1	1
ADCY6	112	broad.mit.edu	37	12	49176786	49176786	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49176786G>C	uc001rsh.3	-	c.432C>G	c.(430-432)TTC>TTG	p.F144L	ADCY6_uc001rsj.3_Missense_Mutation_p.F144L|ADCY6_uc001rsi.3_Missense_Mutation_p.F144L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	144	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.1875	20.646029	25.036447	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49176786	49176786	299	12	G	C	C	C	425	33	ADCY6	3	3
FKBP11	51303	broad.mit.edu	37	12	49318374	49318374	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49318374T>A	uc001rsp.2	-	c.253A>T	c.(253-255)ATA>TTA	p.I85L	FKBP11_uc010sma.1_5'UTR|FKBP11_uc001rsq.3_Missense_Mutation_p.I85L|FKBP11_uc010smb.1_Missense_Mutation_p.I85L	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	85	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0												OREG0021773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.269663	67.165415	71.422523	24	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49318374	49318374	6141	12	T	A	A	A	637	49	FKBP11	3	3
KRT5	3852	broad.mit.edu	37	12	52910570	52910570	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52910570G>T	uc001san.2	-	c.1290C>A	c.(1288-1290)AAC>AAA	p.N430K	KRT5_uc009zmh.2_Missense_Mutation_p.N430K	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	430	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.11399	26.512678	54.869591	22	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52910570	52910570	8794	12	G	T	T	T	620	48	KRT5	2	2
EIF4B	1975	broad.mit.edu	37	12	53431327	53431327	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53431327G>C	uc010snu.1	+	c.1456G>C	c.(1456-1458)GAG>CAG	p.E486Q	EIF4B_uc001sbh.3_Missense_Mutation_p.E481Q|EIF4B_uc010snv.1_Missense_Mutation_p.E442Q|EIF4B_uc001sbi.2_Missense_Mutation_p.E233Q	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	481					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2										304				0.315789	55.835929	57.552859	18	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53431327	53431327	5218	12	G	C	C	C	533	41	EIF4B	3	3
C12orf10	60314	broad.mit.edu	37	12	53700879	53700879	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53700879G>C	uc001scp.3	+	c.1077G>C	c.(1075-1077)TTG>TTC	p.L359F	C12orf10_uc009zmx.2_Missense_Mutation_p.L308F|C12orf10_uc001scq.3_Missense_Mutation_p.L244F	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	359										ovary(2)	2														0.091954	6.737924	21.319128	8	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53700879	53700879	1718	12	G	C	C	C	581	45	C12orf10	3	3
HOXC11	3227	broad.mit.edu	37	12	54367588	54367588	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54367588G>A	uc001sem.2	+	c.563G>A	c.(562-564)GGA>GAA	p.G188E		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	188					endoderm development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0										53				0.135135	7.657512	12.42481	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54367588	54367588	7602	12	G	A	A	A	533	41	HOXC11	2	2
HOXC5	3222	broad.mit.edu	37	12	54427126	54427126	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54427126C>A	uc001sew.2	+	c.220C>A	c.(220-222)CCC>ACC	p.P74T	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	74					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.545455	30.187746	30.226126	12	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54427126	54427126	7606	12	C	A	A	A	286	22	HOXC5	2	2
OR6C75	390323	broad.mit.edu	37	12	55759462	55759462	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55759462A>G	uc010spk.1	+	c.568A>G	c.(568-570)ACT>GCT	p.T190A		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.089286	2.162876	21.256023	10	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55759462	55759462	11609	12	A	G	G	G	78	6	OR6C75	4	4
MARS	4141	broad.mit.edu	37	12	57908546	57908546	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57908546G>A	uc001sog.2	+	c.2011G>A	c.(2011-2013)GAG>AAG	p.E671K	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srq.1_Missense_Mutation_p.E437K|MARS_uc001soh.1_Missense_Mutation_p.E66K	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	671					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)					9				0.100865	23.448011	78.660677	35	312	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57908546	57908546	9699	12	G	A	A	A	585	45	MARS	2	2
PIP4K2C	79837	broad.mit.edu	37	12	57994800	57994800	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57994800G>T	uc001sou.2	+	c.1020G>T	c.(1018-1020)CGG>CGT	p.R340R	PIP4K2C_uc001sot.2_Silent_p.R340R|PIP4K2C_uc010srs.1_Silent_p.R322R|PIP4K2C_uc010srt.1_Silent_p.R292R	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	340	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)									258				0.370558	202.616341	205.519322	73	124	KEEP	---	---	---	---	capture		Silent	SNP	57994800	57994800	12362	12	G	T	T	T	535	42	PIP4K2C	2	2
CYP27B1	1594	broad.mit.edu	37	12	58156960	58156960	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58156960C>G	uc001spz.1	-	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q	CYP27B1_uc001sqa.1_Missense_Mutation_p.E263Q	NM_000785	NP_000776	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B,	498					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|oxidation-reduction process|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)	3	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)					101				0.241379	19.60997	21.379577	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58156960	58156960	4324	12	C	G	G	G	377	29	CYP27B1	3	3
CHD4	1108	broad.mit.edu	37	12	6711247	6711247	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6711247T>C	uc001qpp.2	-	c.308A>G	c.(307-309)GAG>GGG	p.E103G	CHD4_uc001qpn.2_Missense_Mutation_p.E99G|CHD4_uc001qpo.2_Missense_Mutation_p.E106G	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	106					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)								0.305882	78.41959	81.27533	26	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6711247	6711247	3461	12	T	C	C	C	702	54	CHD4	4	4
OSBPL8	114882	broad.mit.edu	37	12	76750467	76750467	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76750467C>A	uc001sye.1	-	c.2476G>T	c.(2476-2478)GAA>TAA	p.E826*	OSBPL8_uc001syf.1_Nonsense_Mutation_p.E784*|OSBPL8_uc001syg.1_Nonsense_Mutation_p.E784*	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	826					lipid transport		lipid binding			ovary(1)	1														0.138889	7.348804	11.887637	5	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76750467	76750467	11694	12	C	A	A	A	416	32	OSBPL8	5	2
NAV3	89795	broad.mit.edu	37	12	78444626	78444626	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78444626C>A	uc001syp.2	+	c.2215C>A	c.(2215-2217)CCC>ACC	p.P739T	NAV3_uc001syo.2_Missense_Mutation_p.P739T|NAV3_uc010sub.1_Missense_Mutation_p.P239T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	739						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16									p.P739T(SNU81-Tumor)	1091				0.434783	112.781174	113.123032	40	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78444626	78444626	10581	12	C	A	A	A	286	22	NAV3	2	2
PPFIA2	8499	broad.mit.edu	37	12	81851619	81851619	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81851619T>C	uc001szo.1	-	c.330A>G	c.(328-330)TTA>TTG	p.L110L	PPFIA2_uc010sue.1_Silent_p.L10L|PPFIA2_uc010sug.1_Non-coding_Transcript|PPFIA2_uc010suh.1_Non-coding_Transcript|PPFIA2_uc010sui.1_Non-coding_Transcript|PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	110	Potential.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.363636	27.295222	27.654682	8	14	KEEP	---	---	---	---	capture		Silent	SNP	81851619	81851619	12740	12	T	C	C	C	790	61	PPFIA2	4	4
TMTC3	160418	broad.mit.edu	37	12	88542108	88542108	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88542108C>G	uc001tau.2	+	c.16C>G	c.(16-18)CTA>GTA	p.L6V	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	6						integral to membrane	binding				0														0.170213	14.368205	19.20834	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88542108	88542108	16803	12	C	G	G	G	311	24	TMTC3	3	3
EEA1	8411	broad.mit.edu	37	12	93170697	93170697	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93170697T>A	uc001tck.2	-	c.4036A>T	c.(4036-4038)AAT>TAT	p.N1346Y		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	1346	Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)	2														0.210843	74.831089	87.672883	35	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93170697	93170697	5108	12	T	A	A	A	806	62	EEA1	3	3
C12orf63	374467	broad.mit.edu	37	12	97052045	97052045	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97052045T>A	uc001tet.1	+	c.656T>A	c.(655-657)CTG>CAG	p.L219Q		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	219										ovary(1)	1														0.254098	81.666387	88.361771	31	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97052045	97052045	1750	12	T	A	A	A	715	55	C12orf63	3	3
NALCN	259232	broad.mit.edu	37	13	101997730	101997730	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101997730C>T	uc001vox.1	-	c.686G>A	c.(685-687)TGC>TAC	p.C229Y	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.C229Y|NALCN_uc001vpa.2_Missense_Mutation_p.C229Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	229	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.382609	121.464567	122.857024	44	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101997730	101997730	10544	13	C	T	T	T	325	25	NALCN	2	2
BRCA2	675	broad.mit.edu	37	13	32914374	32914374	+	Missense_Mutation	SNP	G	C	C	rs80358820		TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32914374G>C	uc001uub.1	+	c.5882G>C	c.(5881-5883)AGT>ACT	p.S1961T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1961					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding|transcription activator activity			ovary(19)|endometrium(8)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|lung(3)|pancreas(3)|cervix(1)|salivary_gland(1)|liver(1)|skin(1)|kidney(1)	57		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)				677	TCGA Ovarian(8;0.087)			0.118644	11.681202	20.108634	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32914374	32914374	1530	13	G	C	C	C	468	36	BRCA2	3	3
GPC5	2262	broad.mit.edu	37	13	92346033	92346033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92346033G>T	uc010tif.1	+	c.918G>T	c.(916-918)ATG>ATT	p.M306I		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	306						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.39726	87.658474	88.333152	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92346033	92346033	6875	13	G	T	T	T	598	46	GPC5	2	2
RNASE8	122665	broad.mit.edu	37	14	21526388	21526388	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21526388G>T	uc010tlm.1	+	c.337G>T	c.(337-339)GGG>TGG	p.G113W	NDRG2_uc010tll.1_Intron	NM_138331	NP_612204	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8 precursor	113						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	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;0.0188)										0.220253	206.500913	234.974	87	308	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21526388	21526388	13886	14	G	T	T	T	455	35	RNASE8	2	2
ACIN1	22985	broad.mit.edu	37	14	23532768	23532768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23532768G>A	uc001wit.3	-	c.2788C>T	c.(2788-2790)CAG>TAG	p.Q930*	ACIN1_uc001wio.3_Non-coding_Transcript|ACIN1_uc001wip.3_Nonsense_Mutation_p.Q172*|ACIN1_uc001wiq.3_Nonsense_Mutation_p.Q172*|ACIN1_uc001wir.3_Nonsense_Mutation_p.Q203*|ACIN1_uc001wis.3_Nonsense_Mutation_p.Q611*|ACIN1_uc010akg.2_Nonsense_Mutation_p.Q917*	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	930					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)	3	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)										0.275229	82.003729	86.962334	30	79	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23532768	23532768	143	14	G	A	A	A	611	47	ACIN1	5	2
MYH6	4624	broad.mit.edu	37	14	23863324	23863324	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23863324C>T	uc001wjv.2	-	c.2638G>A	c.(2638-2640)GTG>ATG	p.V880M		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	880	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.211268	32.784933	38.260042	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23863324	23863324	10433	14	C	T	T	T	234	18	MYH6	2	2
ADCY4	196883	broad.mit.edu	37	14	24795299	24795299	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24795299C>T	uc001wov.2	-	c.1641G>A	c.(1639-1641)CAG>CAA	p.Q547Q	ADCY4_uc001wow.2_Silent_p.Q547Q|ADCY4_uc010toh.1_Silent_p.Q233Q|ADCY4_uc001wox.2_Silent_p.Q547Q|ADCY4_uc001woy.2_Silent_p.Q547Q	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	547	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)						1				0.121212	14.143352	28.054612	12	87	KEEP	---	---	---	---	capture		Silent	SNP	24795299	24795299	297	14	C	T	T	T	363	28	ADCY4	2	2
FANCM	57697	broad.mit.edu	37	14	45633586	45633586	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45633586G>T	uc001wwd.3	+	c.1606G>T	c.(1606-1608)GGT>TGT	p.G536C	FANCM_uc001wwc.2_Missense_Mutation_p.G536C|FANCM_uc010anf.2_Missense_Mutation_p.G510C|FANCM_uc001wwe.3_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	536	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.166667	9.254721	12.417061	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45633586	45633586	5907	14	G	T	T	T	611	47	FANCM	2	2
TRIM9	114088	broad.mit.edu	37	14	51446144	51446144	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51446144G>A	uc001wyy.2	-	c.2274C>T	c.(2272-2274)GGC>GGT	p.G758G	TRIM9_uc001wyx.3_Silent_p.G677G	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	677	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.113924	19.537216	42.762701	18	140	KEEP	---	---	---	---	capture		Silent	SNP	51446144	51446144	17099	14	G	A	A	A	535	42	TRIM9	2	2
MAP3K9	4293	broad.mit.edu	37	14	71216701	71216701	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71216701C>A	uc001xml.2	-	c.1099G>T	c.(1099-1101)GCC>TCC	p.A367S	MAP3K9_uc010ttk.1_Missense_Mutation_p.A104S|MAP3K9_uc001xmk.2_Missense_Mutation_p.A61S|MAP3K9_uc001xmm.2_Missense_Mutation_p.A367S	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	367	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.348485	68.418671	69.74957	23	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71216701	71216701	9640	14	C	A	A	A	351	27	MAP3K9	1	1
KCNK13	56659	broad.mit.edu	37	14	90650564	90650564	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90650564C>T	uc001xye.1	+	c.444C>T	c.(442-444)CGC>CGT	p.R148R		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	148	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		all_cancers(154;0.186)												0.3	31.583878	33.013745	12	28	KEEP	---	---	---	---	capture		Silent	SNP	90650564	90650564	8366	14	C	T	T	T	327	26	KCNK13	2	2
KIAA1409	57578	broad.mit.edu	37	14	94053172	94053172	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94053172C>A	uc001ybv.1	+	c.2419C>A	c.(2419-2421)CTG>ATG	p.L807M	KIAA1409_uc001ybs.1_Missense_Mutation_p.L807M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	984						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.470588	70.793751	70.832313	24	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94053172	94053172	8539	14	C	A	A	A	415	32	KIAA1409	2	2
SERPINA3	12	broad.mit.edu	37	14	95081196	95081196	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95081196G>T	uc001ydo.3	+	c.493G>T	c.(493-495)GCC>TCC	p.A165S	SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.A140S|SERPINA3_uc001ydp.2_Missense_Mutation_p.A140S|SERPINA3_uc001yds.2_Missense_Mutation_p.A140S|SERPINA3_uc010avg.2_Missense_Mutation_p.A140S	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	140					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.240741	31.946398	35.259556	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95081196	95081196	14578	14	G	T	T	T	598	46	SERPINA3	2	2
ATG2B	55102	broad.mit.edu	37	14	96784090	96784090	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96784090G>C	uc001yfi.2	-	c.2982C>G	c.(2980-2982)CTC>CTG	p.L994L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	994										ovary(1)|kidney(1)	2		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)										0.108696	13.479777	27.438112	10	82	KEEP	---	---	---	---	capture		Silent	SNP	96784090	96784090	1113	14	G	C	C	C	574	45	ATG2B	3	3
UBE3A	7337	broad.mit.edu	37	15	25616902	25616902	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25616902C>G	uc001zaq.2	-	c.428G>C	c.(427-429)AGA>ACA	p.R143T	UBE3A_uc001zar.2_Missense_Mutation_p.R120T|UBE3A_uc001zas.2_Missense_Mutation_p.R140T|UBE3A_uc001zat.2_Missense_Mutation_p.R120T	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	143					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)										0.119048	6.64359	12.629349	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25616902	25616902	17437	15	C	G	G	G	416	32	UBE3A	3	3
RYR3	6263	broad.mit.edu	37	15	34040333	34040333	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34040333T>C	uc001zhi.2	+	c.8008T>C	c.(8008-8010)TGG>CGG	p.W2670R	RYR3_uc010bar.2_Missense_Mutation_p.W2670R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2670	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.146067	23.215655	33.934241	13	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34040333	34040333	14250	15	T	C	C	C	715	55	RYR3	4	4
SLC12A1	6557	broad.mit.edu	37	15	48513169	48513169	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48513169T>A	uc001zwn.3	+	c.604T>A	c.(604-606)TGG>AGG	p.W202R	SLC12A1_uc010uew.1_Missense_Mutation_p.W8R|SLC12A1_uc010bem.2_Missense_Mutation_p.W202R|SLC12A1_uc010uex.1_Missense_Mutation_p.W202R|SLC12A1_uc001zwq.3_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	202	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.215054	50.950191	57.919058	20	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48513169	48513169	14877	15	T	A	A	A	715	55	SLC12A1	3	3
MYO5A	4644	broad.mit.edu	37	15	52611497	52611498	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52611497_52611498CC>AA	uc002aby.2	-	c.4918_4919GG>TT	c.(4918-4920)GGG>TTG	p.G1640L	MYO5A_uc002abx.3_Missense_Mutation_p.G1613L|MYO5A_uc010ugd.1_Missense_Mutation_p.G362L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1640	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.094595	3.168465	15.388088	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	52611497	52611498	10473	15	CC	AA	AA	AA	286	22	MYO5A	2	2
ADAMTSL3	57188	broad.mit.edu	37	15	84651148	84651148	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84651148A>G	uc002bjz.3	+	c.2768A>G	c.(2767-2769)TAT>TGT	p.Y923C	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Y923C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Y923C	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	923	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.168317	37.316494	47.837101	17	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84651148	84651148	277	15	A	G	G	G	208	16	ADAMTSL3	4	4
FURIN	5045	broad.mit.edu	37	15	91419555	91419555	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91419555G>T	uc002bpu.1	+	c.248G>T	c.(247-249)CGG>CTG	p.R83L		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	83					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|positive regulation of membrane protein ectodomain proteolysis|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)	4	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)							290				0.175	14.601583	18.585782	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91419555	91419555	6350	15	G	T	T	T	507	39	FURIN	1	1
MYH11	4629	broad.mit.edu	37	16	15818778	15818778	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15818778C>T	uc002ddx.2	-	c.3951G>A	c.(3949-3951)GTG>GTA	p.V1317V	MYH11_uc002ddv.2_Silent_p.V1317V|MYH11_uc002ddw.2_Silent_p.V1310V|MYH11_uc002ddy.2_Silent_p.V1310V|MYH11_uc010bvg.2_Silent_p.V1142V|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Silent_p.V16V|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1310	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.382979	51.237101	51.802034	18	29	KEEP	---	---	---	---	capture		Silent	SNP	15818778	15818778	10426	16	C	T	T	T	262	21	MYH11	2	2
SMG1	23049	broad.mit.edu	37	16	18887705	18887705	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18887705A>G	uc002dfm.2	-	c.1631T>C	c.(1630-1632)GTA>GCA	p.V544A	SMG1_uc010bwb.2_Missense_Mutation_p.V404A	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	544					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.358974	43.840618	44.523001	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18887705	18887705	15293	16	A	G	G	G	182	14	SMG1	4	4
GPRC5B	51704	broad.mit.edu	37	16	19873247	19873247	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19873247C>G	uc010vav.1	-	c.1157G>C	c.(1156-1158)AGT>ACT	p.S386T	GPRC5B_uc002dgt.2_Missense_Mutation_p.S360T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	360	Cytoplasmic (Potential).										0														0.166667	9.455743	12.616992	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19873247	19873247	7001	16	C	G	G	G	260	20	GPRC5B	3	3
APOB48R	55911	broad.mit.edu	37	16	28508735	28508735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28508735C>A	uc002dqb.1	+	c.2346C>A	c.(2344-2346)GAC>GAA	p.D782E	APOB48R_uc010byg.1_Missense_Mutation_p.D320E	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	782	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.097222	4.670968	16.37125	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28508735	28508735	797	16	C	A	A	A	259	20	APOB48R	2	2
ABCC12	94160	broad.mit.edu	37	16	48162426	48162426	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48162426C>T	uc002efc.1	-	c.1459G>A	c.(1459-1461)GAG>AAG	p.E487K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.E487K	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	487	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.226562	68.210838	76.996009	29	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48162426	48162426	53	16	C	T	T	T	390	30	ABCC12	2	2
GPR97	222487	broad.mit.edu	37	16	57712186	57712186	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57712186G>T	uc002emh.2	+	c.450G>T	c.(448-450)TTG>TTT	p.L150F	GPR97_uc010cdc.2_Missense_Mutation_p.L150F|GPR97_uc010vhv.1_Missense_Mutation_p.L30F|GPR97_uc010cdd.2_Non-coding_Transcript|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	150	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.357798	114.192885	116.134881	39	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57712186	57712186	6996	16	G	T	T	T	607	47	GPR97	2	2
CNGB1	1258	broad.mit.edu	37	16	57937831	57937831	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57937831T>C	uc002emt.2	-	c.2689A>G	c.(2689-2691)ATG>GTG	p.M897V	CNGB1_uc010cdh.2_Missense_Mutation_p.M891V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	897	Extracellular (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.384615	27.843137	28.146786	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57937831	57937831	3738	16	T	C	C	C	663	51	CNGB1	4	4
PRSS54	221191	broad.mit.edu	37	16	58318599	58318599	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58318599G>T	uc002enf.2	-	c.549C>A	c.(547-549)GTC>GTA	p.V183V	PRSS54_uc002eng.2_Silent_p.V183V|PRSS54_uc010vie.1_Silent_p.V84V	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	183	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2														0.166667	16.239675	21.930232	9	45	KEEP	---	---	---	---	capture		Silent	SNP	58318599	58318599	13084	16	G	T	T	T	522	41	PRSS54	2	2
HYDIN	54768	broad.mit.edu	37	16	71012832	71012832	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71012832T>G	uc002ezr.2	-	c.4620A>C	c.(4618-4620)GAA>GAC	p.E1540D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1541										ovary(1)	1		Ovarian(137;0.0654)												0.232558	24.727049	27.543948	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71012832	71012832	7767	16	T	G	G	G	725	56	HYDIN	4	4
ADAT1	23536	broad.mit.edu	37	16	75634175	75634175	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75634175A>T	uc002feo.1	-	c.1448T>A	c.(1447-1449)CTC>CAC	p.L483H	ADAT1_uc002fep.1_Missense_Mutation_p.L334H	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	483	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)	1														0.055556	-6.560036	8.404244	4	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75634175	75634175	285	16	A	T	T	T	143	11	ADAT1	3	3
MYH8	4626	broad.mit.edu	37	17	10322030	10322030	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10322030T>C	uc002gmm.2	-	c.443A>G	c.(442-444)AAA>AGA	p.K148R		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	148	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														0.324675	73.853478	75.951876	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10322030	10322030	10436	17	T	C	C	C	832	64	MYH8	4	4
SMCR8	140775	broad.mit.edu	37	17	18226352	18226352	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18226352G>C	uc002gsy.3	+	c.2782G>C	c.(2782-2784)GAC>CAC	p.D928H		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	928										central_nervous_system(1)	1														0.204545	23.050636	26.613925	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18226352	18226352	15290	17	G	C	C	C	585	45	SMCR8	3	3
SLFN5	162394	broad.mit.edu	37	17	33586427	33586427	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33586427G>C	uc002hjf.3	+	c.718G>C	c.(718-720)GGA>CGA	p.G240R	SLFN5_uc002hje.2_Missense_Mutation_p.G240R|SLFN5_uc010wcg.1_Missense_Mutation_p.G240R	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	240					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)										0.213235	64.788908	75.134549	29	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33586427	33586427	15235	17	G	C	C	C	611	47	SLFN5	3	3
KRTAP1-1	81851	broad.mit.edu	37	17	39197230	39197230	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39197230G>T	uc002hvw.1	-	c.420C>A	c.(418-420)CCC>CCA	p.P140P		NM_030967	NP_112229	Q07627	KRA11_HUMAN	keratin associated protein 1-1	140						extracellular region|keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.135135	6.942579	11.639665	5	32	KEEP	---	---	---	---	capture		Silent	SNP	39197230	39197230	8817	17	G	T	T	T	548	43	KRTAP1-1	2	2
ITGA2B	3674	broad.mit.edu	37	17	42452120	42452120	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42452120C>A	uc002igt.1	-	c.2850G>T	c.(2848-2850)CTG>CTT	p.L950L	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	950	Extracellular (Potential).				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)									0.2	9.087914	10.762504	4	16	KEEP	---	---	---	---	capture		Silent	SNP	42452120	42452120	8180	17	C	A	A	A	262	21	ITGA2B	2	2
HEXIM1	10614	broad.mit.edu	37	17	43227346	43227346	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43227346G>A	uc002iig.2	+	c.789G>A	c.(787-789)CTG>CTA	p.L263L		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	263					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1														0.162162	10.624852	14.642025	6	31	KEEP	---	---	---	---	capture		Silent	SNP	43227346	43227346	7359	17	G	A	A	A	587	46	HEXIM1	2	2
NPEPPS	9520	broad.mit.edu	37	17	45662869	45662869	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45662869G>T	uc002ilr.3	+	c.652G>T	c.(652-654)GTA>TTA	p.V218L	NPEPPS_uc010wkt.1_Missense_Mutation_p.V214L|NPEPPS_uc010wku.1_Missense_Mutation_p.V182L|NPEPPS_uc010dba.1_Missense_Mutation_p.V63L|NPEPPS_uc010wkv.1_5'Flank	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	218					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0														0.4875	121.419092	121.430054	39	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45662869	45662869	10979	17	G	T	T	T	624	48	NPEPPS	2	2
NUP88	4927	broad.mit.edu	37	17	5314073	5314073	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5314073G>T	uc010vsx.1	-	c.630C>A	c.(628-630)AAC>AAA	p.N210K	NUP88_uc002gbo.1_Missense_Mutation_p.N210K|NUP88_uc010cle.1_Missense_Mutation_p.N210K|NUP88_uc010vsy.1_Missense_Mutation_p.N210K	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	210					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1										6				0.277778	197.358632	208.544731	70	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5314073	5314073	11176	17	G	T	T	T	516	40	NUP88	1	1
OR4D1	26689	broad.mit.edu	37	17	56233444	56233444	+	Silent	SNP	G	A	A	rs78424437		TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56233444G>A	uc010wno.1	+	c.930G>A	c.(928-930)GAG>GAA	p.E310E	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.085714	1.095295	13.274958	6	64	KEEP	---	---	---	---	capture		Silent	SNP	56233444	56233444	11460	17	G	A	A	A	464	36	OR4D1	2	2
TP53	7157	broad.mit.edu	37	17	7578257	7578258	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578257_7578258CC>AA	uc002gim.2	-	c.591_592GG>TT	c.(589-594)GTGGAA>GTTTAA	p.E198*	TP53_uc002gig.1_Nonsense_Mutation_p.E198*|TP53_uc002gih.2_Nonsense_Mutation_p.E198*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E66*|TP53_uc010cng.1_Nonsense_Mutation_p.E66*|TP53_uc002gii.1_Nonsense_Mutation_p.E66*|TP53_uc010cnh.1_Nonsense_Mutation_p.E198*|TP53_uc010cni.1_Nonsense_Mutation_p.E198*|TP53_uc002gij.2_Nonsense_Mutation_p.E198*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E105*|TP53_uc002gio.2_Nonsense_Mutation_p.E66*|TP53_uc010vug.1_Nonsense_Mutation_p.E159*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	198	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> G (in sporadic cancers; somatic mutation).|E -> D (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> Q (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.E198*(17)|p.0?(6)|p.E198K(4)|p.A189_V197delAPPQHLIRV(4)|p.E198fs*11(2)|p.E198Q(2)|p.V197V(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(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.E198fs(TOLEDO-Tumor)|p.H193fs(59M-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.27027	49.565581	53.090096	20	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	7578257	7578258	16923	17	CC	AA	AA	AA	390	30	TP53	5	2
ARHGEF15	22899	broad.mit.edu	37	17	8224231	8224231	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8224231A>G	uc002glc.2	+	c.2446A>G	c.(2446-2448)AGG>GGG	p.R816G	ARHGEF15_uc002gld.2_Missense_Mutation_p.R816G|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R705G	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	816					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2														0.288889	37.556287	39.354398	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8224231	8224231	912	17	A	G	G	G	140	11	ARHGEF15	4	4
MC4R	4160	broad.mit.edu	37	18	58039336	58039336	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:58039336T>A	uc002lie.1	-	c.247A>T	c.(247-249)ATC>TTC	p.I83F		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	83	Helical; Name=2; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding				0		Colorectal(73;0.0946)												0.480519	245.84676	245.897314	74	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58039336	58039336	9755	18	T	A	A	A	663	51	MC4R	3	3
PTPRM	5797	broad.mit.edu	37	18	7888352	7888352	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7888352A>C	uc010dkv.2	+	c.445A>C	c.(445-447)ACT>CCT	p.T149P	PTPRM_uc002knn.3_Missense_Mutation_p.T149P	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	149	MAM.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(1)|central_nervous_system(1)	5		Colorectal(10;0.234)												0.427419	179.645566	180.216689	53	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7888352	7888352	13263	18	A	C	C	C	182	14	PTPRM	4	4
KIAA0802	23255	broad.mit.edu	37	18	8813219	8813219	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8813219G>T	uc002knr.2	+	c.2847G>T	c.(2845-2847)TGG>TGT	p.W949C	KIAA0802_uc002knq.2_Missense_Mutation_p.W908C|KIAA0802_uc002kns.2_Missense_Mutation_p.W317C	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	1259	Potential.									ovary(6)|central_nervous_system(1)	7										468				0.111111	3.071936	8.458057	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8813219	8813219	8501	18	G	T	T	T	533	41	KIAA0802	2	2
ANKRD12	23253	broad.mit.edu	37	18	9258375	9258375	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:9258375C>G	uc002knv.2	+	c.5110C>G	c.(5110-5112)CAA>GAA	p.Q1704E	ANKRD12_uc002knw.2_Missense_Mutation_p.Q1681E|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1681E|ANKRD12_uc010dkx.1_Missense_Mutation_p.Q1411E	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1704						nucleus				ovary(2)|central_nervous_system(1)	3														0.091837	7.203379	23.641368	9	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9258375	9258375	643	18	C	G	G	G	377	29	ANKRD12	3	3
ILF3	3609	broad.mit.edu	37	19	10789315	10789315	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10789315G>T	uc002mpo.2	+	c.586G>T	c.(586-588)GAC>TAC	p.D196Y	ILF3_uc002mpm.2_Missense_Mutation_p.D196Y|ILF3_uc002mpl.2_Missense_Mutation_p.D196Y|ILF3_uc002mpk.2_Missense_Mutation_p.D196Y|ILF3_uc010xli.1_Intron|ILF3_uc002mpn.2_Missense_Mutation_p.D196Y|ILF3_uc002mpp.2_Missense_Mutation_p.D17Y	NM_017620	NP_060090	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform d	196	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding|transcription activator activity|transcription repressor activity			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)											0.233333	15.908029	17.862177	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10789315	10789315	8013	19	G	T	T	T	533	41	ILF3	2	2
CNN1	1264	broad.mit.edu	37	19	11651957	11651957	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11651957C>T	uc002msc.1	+	c.130C>T	c.(130-132)CGT>TGT	p.R44C	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	44	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding				0														0.252874	58.851344	63.647375	22	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11651957	11651957	3747	19	C	T	T	T	299	23	CNN1	1	1
ZNF490	57474	broad.mit.edu	37	19	12691673	12691673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12691673G>A	uc002mtz.2	-	c.1216C>T	c.(1216-1218)CAG>TAG	p.Q406*		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	406	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.126667	24.711011	45.119537	19	131	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12691673	12691673	18535	19	G	A	A	A	585	45	ZNF490	5	2
NFIX	4784	broad.mit.edu	37	19	13184748	13184748	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13184748C>G	uc002mwd.2	+	c.726C>G	c.(724-726)AAC>AAG	p.N242K	NFIX_uc002mwe.2_Missense_Mutation_p.N234K|NFIX_uc002mwf.2_Missense_Mutation_p.N245K|NFIX_uc010xmx.1_Missense_Mutation_p.N250K|NFIX_uc002mwg.1_Missense_Mutation_p.N241K	NM_002501	NP_002492	Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription	242					DNA replication|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)	1			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)											0.185185	25.244181	30.241118	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13184748	13184748	10774	19	C	G	G	G	259	20	NFIX	3	3
ZSWIM4	65249	broad.mit.edu	37	19	13941649	13941649	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13941649G>A	uc002mxh.1	+	c.2755G>A	c.(2755-2757)GCA>ACA	p.A919T	ZSWIM4_uc010xng.1_Missense_Mutation_p.A842T	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	919							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)											0.383333	61.506606	62.223764	23	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13941649	13941649	18847	19	G	A	A	A	546	42	ZSWIM4	2	2
NWD1	284434	broad.mit.edu	37	19	16860107	16860107	+	Silent	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16860107T>G	uc002net.3	+	c.249T>G	c.(247-249)GCT>GCG	p.A83A	NWD1_uc002neu.3_Silent_p.A218A|NWD1_uc002nev.3_Silent_p.A12A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	218							ATP binding			ovary(2)|pancreas(2)	4														0.2	19.144574	22.92121	9	36	KEEP	---	---	---	---	capture		Silent	SNP	16860107	16860107	11186	19	T	G	G	G	704	55	NWD1	4	4
ZNF208	7757	broad.mit.edu	37	19	22157415	22157415	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22157415G>T	uc002nqp.2	-	c.421C>A	c.(421-423)CAG>AAG	p.Q141K	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.204301	44.569019	52.117864	19	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22157415	22157415	18357	19	G	T	T	T	624	48	ZNF208	2	2
ZNF257	113835	broad.mit.edu	37	19	22255680	22255680	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22255680C>G	uc010ecx.2	+	c.73C>G	c.(73-75)CAG>GAG	p.Q25E	ZNF257_uc010ecy.2_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.229358	69.416719	76.737974	25	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22255680	22255680	18391	19	C	G	G	G	221	17	ZNF257	3	3
ZNF99	7652	broad.mit.edu	37	19	22939299	22939299	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22939299G>A	uc010xrh.1	-	c.2872C>T	c.(2872-2874)CGC>TGC	p.R958C		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	958	C2H2-type 28; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.237288	33.622014	37.342349	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22939299	22939299	18808	19	G	A	A	A	520	40	ZNF99	1	1
ZNF507	22847	broad.mit.edu	37	19	32873969	32873969	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:32873969A>G	uc002nte.2	+	c.2842A>G	c.(2842-2844)ACA>GCA	p.T948A	ZNF507_uc002ntd.2_Missense_Mutation_p.T948A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	4	Esophageal squamous(110;0.162)													0.298246	50.556095	52.628157	17	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32873969	32873969	18547	19	A	G	G	G	182	14	ZNF507	4	4
APLP1	333	broad.mit.edu	37	19	36369001	36369001	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36369001C>T	uc002ocf.2	+	c.1570C>T	c.(1570-1572)CTT>TTT	p.L524F	APLP1_uc010xsz.1_Missense_Mutation_p.L484F|APLP1_uc002oce.2_Missense_Mutation_p.L523F|APLP1_uc002ocg.2_Missense_Mutation_p.L427F|APLP1_uc010xta.1_Missense_Mutation_p.L517F	NM_001024807	NP_001019978	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 1	523	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.134831	20.938559	32.442535	12	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36369001	36369001	789	19	C	T	T	T	312	24	APLP1	2	2
ZFP14	57677	broad.mit.edu	37	19	36831961	36831961	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36831961T>C	uc010xtd.1	-	c.770A>G	c.(769-771)TAT>TGT	p.Y257C	ZFP14_uc002odx.1_Missense_Mutation_p.Y256C|ZFP14_uc010eex.1_Missense_Mutation_p.Y256C	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	256	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)													0.263889	56.496795	60.122701	19	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36831961	36831961	18227	19	T	C	C	C	637	49	ZFP14	4	4
ZFP82	284406	broad.mit.edu	37	19	36884638	36884638	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36884638C>A	uc002ody.1	-	c.604G>T	c.(604-606)GAA>TAA	p.E202*		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	202	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.209877	36.428402	42.740142	17	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	36884638	36884638	18242	19	C	A	A	A	390	30	ZFP82	5	2
ZNF571	51276	broad.mit.edu	37	19	38055973	38055973	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38055973C>A	uc002ogt.2	-	c.1357G>T	c.(1357-1359)GGA>TGA	p.G453*	ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc010efp.2_Nonsense_Mutation_p.G453*	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	453	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.157895	27.659332	38.266254	15	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38055973	38055973	18598	19	C	A	A	A	273	21	ZNF571	5	2
LRFN1	57622	broad.mit.edu	37	19	39805953	39805953	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39805953C>A	uc002okw.2	-	c.24G>T	c.(22-24)TCG>TCT	p.S8S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	8						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)											0.428571	17.747878	17.810094	6	8	KEEP	---	---	---	---	capture		Silent	SNP	39805953	39805953	9310	19	C	A	A	A	288	23	LRFN1	1	1
PLEKHG2	64857	broad.mit.edu	37	19	39913447	39913448	+	Missense_Mutation	DNP	GC	AT	AT			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39913447_39913448GC>AT	uc010xuz.1	+	c.1753_1754GC>AT	c.(1753-1755)GCC>ATC	p.A585I	PLEKHG2_uc010xuy.1_Missense_Mutation_p.A526I|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.A363I	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	585					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			pancreas(1)|breast(1)|skin(1)	3	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.269841	39.339136	42.357366	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39913447	39913448	12495	19	GC	AT	AT	AT	442	34	PLEKHG2	2	2
FCGBP	8857	broad.mit.edu	37	19	40408112	40408112	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40408112G>C	uc002omp.3	-	c.4609C>G	c.(4609-4611)CAC>GAC	p.H1537D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	1537	TIL 3.|Cys-rich.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.16	9.483597	12.235251	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40408112	40408112	6015	19	G	C	C	C	585	45	FCGBP	3	3
PLD3	23646	broad.mit.edu	37	19	40884006	40884006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40884006G>T	uc002onm.3	+	c.1399G>T	c.(1399-1401)GAC>TAC	p.D467Y	PLD3_uc002onj.3_Missense_Mutation_p.D467Y|PLD3_uc002onk.3_Missense_Mutation_p.D467Y|PLD3_uc002onl.3_Missense_Mutation_p.D467Y|PLD3_uc002onn.2_Missense_Mutation_p.D467Y	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	467	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)											0.062112	-14.405783	17.726988	10	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40884006	40884006	12473	19	G	T	T	T	533	41	PLD3	2	2
ATP1A3	478	broad.mit.edu	37	19	42490150	42490150	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42490150G>T	uc010xwh.1	-	c.511C>A	c.(511-513)CAA>AAA	p.Q171K	ATP1A3_uc010xwf.1_Missense_Mutation_p.Q169K|ATP1A3_uc010xwg.1_Missense_Mutation_p.Q128K|ATP1A3_uc002osg.2_Missense_Mutation_p.Q158K|ATP1A3_uc002osh.2_Missense_Mutation_p.Q158K	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	158	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2														0.255	128.506591	139.419559	51	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42490150	42490150	1149	19	G	T	T	T	598	46	ATP1A3	2	2
PSG11	5680	broad.mit.edu	37	19	43519394	43519394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43519394G>A	uc002ovn.1	-	c.856C>T	c.(856-858)CAG>TAG	p.Q286*	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovm.1_Nonsense_Mutation_p.Q280*|PSG11_uc002ovo.1_Nonsense_Mutation_p.Q158*|PSG11_uc002ovp.1_Nonsense_Mutation_p.Q158*	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	280	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.262411	94.405881	101.60947	37	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43519394	43519394	13107	19	G	A	A	A	585	45	PSG11	5	2
ZNF233	353355	broad.mit.edu	37	19	44778388	44778388	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44778388C>T	uc002oyz.1	+	c.1575C>T	c.(1573-1575)GCC>GCT	p.A525A	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.A340A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	525	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)|all_neural(266;0.226)												0.118812	15.72919	30.139859	12	89	KEEP	---	---	---	---	capture		Silent	SNP	44778388	44778388	18377	19	C	T	T	T	275	22	ZNF233	2	2
ZNF233	353355	broad.mit.edu	37	19	44778566	44778566	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44778566G>A	uc002oyz.1	+	c.1753G>A	c.(1753-1755)GTC>ATC	p.V585I	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.V400I	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	585	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)|all_neural(266;0.226)												0.231481	62.016849	69.152123	25	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44778566	44778566	18377	19	G	A	A	A	468	36	ZNF233	2	2
CD3EAP	10849	broad.mit.edu	37	19	45912708	45912708	+	Silent	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45912708T>G	uc002pbr.1	+	c.1488T>G	c.(1486-1488)GCT>GCG	p.A496A	CD3EAP_uc002pbq.1_Silent_p.A494A	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	494					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)										0.235294	8.709443	9.787634	4	13	KEEP	---	---	---	---	capture		Silent	SNP	45912708	45912708	3140	19	T	G	G	G	691	54	CD3EAP	4	4
C5AR1	728	broad.mit.edu	37	19	47823367	47823367	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47823367C>G	uc002pgj.1	+	c.333C>G	c.(331-333)ATC>ATG	p.I111M		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	111	Helical; Name=3; (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)										0.093023	2.112169	9.236961	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47823367	47823367	2379	19	C	G	G	G	382	30	C5AR1	3	3
CRX	1406	broad.mit.edu	37	19	48343009	48343009	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48343009C>G	uc002phq.3	+	c.685C>G	c.(685-687)CTA>GTA	p.L229V		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	229					organ morphogenesis|response to stimulus|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		Pancreas(57;461 1196 22201 40716 47188)								0.094421	15.379972	53.87476	22	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48343009	48343009	4041	19	C	G	G	G	363	28	CRX	3	3
TRPM4	54795	broad.mit.edu	37	19	49686403	49686403	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49686403G>C	uc002pmw.2	+	c.1677G>C	c.(1675-1677)TGG>TGC	p.W559C	TRPM4_uc010emu.2_Missense_Mutation_p.W559C|TRPM4_uc010yak.1_Missense_Mutation_p.W23C|TRPM4_uc002pmx.2_Missense_Mutation_p.W385C|TRPM4_uc010emv.2_Missense_Mutation_p.W444C|TRPM4_uc010yal.1_Missense_Mutation_p.W205C|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	559	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.254237	39.396168	42.630847	15	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49686403	49686403	17139	19	G	C	C	C	533	41	TRPM4	3	3
ZNF613	79898	broad.mit.edu	37	19	52448126	52448126	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52448126G>T	uc002pxz.1	+	c.990G>T	c.(988-990)AGG>AGT	p.R330S	ZNF613_uc002pya.1_Missense_Mutation_p.R294S	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	330	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)										0.273437	87.963455	93.888113	35	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52448126	52448126	18633	19	G	T	T	T	542	42	ZNF613	2	2
ZNF808	388558	broad.mit.edu	37	19	53050824	53050824	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53050824G>C	uc010epq.1	+	c.123G>C	c.(121-123)CTG>CTC	p.L41L	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)										0.161202	129.589704	169.558135	59	307	KEEP	---	---	---	---	capture		Silent	SNP	53050824	53050824	18771	19	G	C	C	C	574	45	ZNF808	3	3
TMC4	147798	broad.mit.edu	37	19	54675653	54675653	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54675653G>A	uc010erf.2	-	c.297C>T	c.(295-297)GCC>GCT	p.A99A	TMC4_uc002qdo.2_Silent_p.A93A	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	99	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.307692	41.778386	43.493994	16	36	KEEP	---	---	---	---	capture		Silent	SNP	54675653	54675653	16517	19	G	A	A	A	600	47	TMC4	2	2
LILRB2	10288	broad.mit.edu	37	19	54778671	54778671	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54778671C>A	uc002qfb.2	-	c.1663G>T	c.(1663-1665)GAA>TAA	p.E555*	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Nonsense_Mutation_p.E554*|LILRB2_uc010yet.1_Nonsense_Mutation_p.E439*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	555	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.333333	35.260552	36.2207	13	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54778671	54778671	9117	19	C	A	A	A	377	29	LILRB2	5	2
KIR3DL1	3811	broad.mit.edu	37	19	55341597	55341597	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55341597T>C	uc002qhk.3	+	c.1202T>C	c.(1201-1203)TTG>TCG	p.L401S	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.L326S|KIR3DL1_uc010esf.2_Missense_Mutation_p.L306S|KIR3DL1_uc010yfo.1_Missense_Mutation_p.L343S|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	401	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.11335	45.881241	104.469419	45	352	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55341597	55341597	8632	19	T	C	C	C	819	63	KIR3DL1	4	4
HSPBP1	23640	broad.mit.edu	37	19	55776662	55776662	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55776662T>A	uc002qjx.2	-	c.1127A>T	c.(1126-1128)CAG>CTG	p.Q376L	HSPBP1_uc002qjy.2_Missense_Mutation_p.Q330L|HSPBP1_uc002qkb.2_Silent_p.A326A|HSPBP1_uc002qka.2_Missense_Mutation_p.Q330L|HSPBP1_uc002qkd.2_Missense_Mutation_p.Q330L|HSPBP1_uc002qkc.2_Missense_Mutation_p.Q330L	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	333					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)										0.24	15.237814	16.780111	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55776662	55776662	7726	19	T	A	A	A	715	55	HSPBP1	3	3
NLRP8	126205	broad.mit.edu	37	19	56490758	56490758	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56490758A>C	uc002qmh.2	+	c.2877_splice	c.e9-2	p.E959_splice	NLRP8_uc010etg.2_Splice_Site_SNP_p.E940_splice	NM_176811	NP_789781			NLR family, pyrin domain containing 8							cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.102564	7.449022	19.719964	8	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56490758	56490758	10886	19	A	C	C	C	91	7	NLRP8	5	4
ZNF667	63934	broad.mit.edu	37	19	56953955	56953955	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56953955C>A	uc002qnd.2	-	c.409G>T	c.(409-411)GGG>TGG	p.G137W	ZNF667_uc010etl.2_De_novo_Start_OutOfFrame|ZNF667_uc002qne.2_Missense_Mutation_p.G137W|ZNF667_uc010etm.2_Missense_Mutation_p.G80W	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)										0.130435	8.522726	14.63072	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56953955	56953955	18669	19	C	A	A	A	312	24	ZNF667	2	2
USP29	57663	broad.mit.edu	37	19	57640187	57640187	+	Silent	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640187A>T	uc002qny.2	+	c.144A>T	c.(142-144)ATA>ATT	p.I48I		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	48					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.142857	5.010975	7.591973	3	18	KEEP	---	---	---	---	capture		Silent	SNP	57640187	57640187	17623	19	A	T	T	T	163	13	USP29	3	3
ELAVL1	1994	broad.mit.edu	37	19	8032642	8032642	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8032642C>G	uc002mjb.2	-	c.463G>C	c.(463-465)GAC>CAC	p.D155H		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	155	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0										113				0.235294	11.791239	12.88053	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8032642	8032642	5240	19	C	G	G	G	377	29	ELAVL1	3	3
MUC16	94025	broad.mit.edu	37	19	8987284	8987284	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8987284G>T	uc002mkp.2	-	c.41803C>A	c.(41803-41805)CTG>ATG	p.L13935M	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.L752M|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13960	Extracellular (Potential).|SEA 13.			Missing (in Ref. 3; AAK74120).	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														0.224719	97.000935	109.399588	40	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8987284	8987284	10367	19	G	T	T	T	451	35	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9067655	9067655	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9067655C>T	uc002mkp.2	-	c.19791G>A	c.(19789-19791)GTG>GTA	p.V6597V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6599	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														0.265625	302.708318	324.956731	119	329	KEEP	---	---	---	---	capture		Silent	SNP	9067655	9067655	10367	19	C	T	T	T	262	21	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9075271	9075271	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9075271T>C	uc002mkp.2	-	c.12175A>G	c.(12175-12177)AGC>GGC	p.S4059G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4061	Thr-rich.|Extracellular (Potential).|Ser-rich.				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														0.225869	267.379324	303.158444	117	401	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9075271	9075271	10367	19	T	C	C	C	715	55	MUC16	4	4
MUC16	94025	broad.mit.edu	37	19	9083779	9083779	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9083779C>T	uc002mkp.2	-	c.8036G>A	c.(8035-8037)GGC>GAC	p.G2679D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2679	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.194245	57.142277	69.267468	27	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9083779	9083779	10367	19	C	T	T	T	338	26	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9088114	9088114	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9088114C>A	uc002mkp.2	-	c.3701G>T	c.(3700-3702)GGG>GTG	p.G1234V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1234	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														0.080201	-11.222363	132.238529	64	734	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9088114	9088114	10367	19	C	A	A	A	286	22	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9089538	9089538	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9089538G>C	uc002mkp.2	-	c.2277C>G	c.(2275-2277)ATC>ATG	p.I759M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	759	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														0.090737	31.879186	121.235863	48	481	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9089538	9089538	10367	19	G	C	C	C	421	33	MUC16	3	3
AGL	178	broad.mit.edu	37	1	100376370	100376370	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100376370G>A	uc001dsi.1	+	c.3803G>A	c.(3802-3804)AGA>AAA	p.R1268K	AGL_uc001dsj.1_Missense_Mutation_p.R1268K|AGL_uc001dsk.1_Missense_Mutation_p.R1268K|AGL_uc001dsl.1_Missense_Mutation_p.R1268K|AGL_uc001dsm.1_Missense_Mutation_p.R1252K|AGL_uc001dsn.1_Missense_Mutation_p.R1251K	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1268	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)										0.148936	12.294182	17.852957	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100376370	100376370	387	1	G	A	A	A	429	33	AGL	2	2
DBT	1629	broad.mit.edu	37	1	100681576	100681576	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100681576C>T	uc001dta.2	-	c.735G>A	c.(733-735)CCG>CCA	p.P245P	DBT_uc010oug.1_Silent_p.P64P	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	245					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)										0.367347	57.039643	57.796715	18	31	KEEP	---	---	---	---	capture		Silent	SNP	100681576	100681576	4429	1	C	T	T	T	288	23	DBT	1	1
COL11A1	1301	broad.mit.edu	37	1	103427760	103427760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103427760G>T	uc001dum.2	-	c.3122C>A	c.(3121-3123)CCA>CAA	p.P1041Q	COL11A1_uc001duk.2_Missense_Mutation_p.P225Q|COL11A1_uc001dul.2_Missense_Mutation_p.P1029Q|COL11A1_uc001dun.2_Missense_Mutation_p.P990Q|COL11A1_uc009weh.2_Missense_Mutation_p.P913Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1029	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.278351	71.279222	75.568948	27	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103427760	103427760	3805	1	G	T	T	T	611	47	COL11A1	2	2
VAV3	10451	broad.mit.edu	37	1	108152588	108152588	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108152588C>T	uc010ouw.1	-	c.1981_splice	c.e22-1	p.V661_splice	VAV3_uc010ouu.1_Splice_Site_SNP_p.V65_splice|VAV3_uc001dvj.1_Splice_Site_SNP_p.V101_splice|VAV3_uc010ouv.1_Splice_Site_SNP_p.V65_splice|VAV3_uc001dvk.1_Splice_Site_SNP_p.V661_splice	NM_006113	NP_006104			vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.188406	30.029117	36.305322	13	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108152588	108152588	17698	1	C	T	T	T	312	24	VAV3	5	2
PRPF38B	55119	broad.mit.edu	37	1	109242165	109242165	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109242165G>C	uc001dvv.3	+	c.1164G>C	c.(1162-1164)AGG>AGC	p.R388S	PRPF38B_uc001dvw.3_Missense_Mutation_p.R277S|PRPF38B_uc010ouz.1_Missense_Mutation_p.R191S	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	388	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)										0.130435	5.708873	8.764087	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109242165	109242165	13011	1	G	C	C	C	568	44	PRPF38B	3	3
PDE4DIP	9659	broad.mit.edu	37	1	144879555	144879555	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144879555C>A	uc001elw.3	-	c.3895G>T	c.(3895-3897)GAG>TAG	p.E1299*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.E1255*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.E306*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1299					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.08642	1.071201	15.098359	7	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	144879555	144879555	12064	1	C	A	A	A	390	30	PDE4DIP	5	2
ARHGEF11	9826	broad.mit.edu	37	1	156917106	156917106	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156917106T>C	uc001fqn.2	-	c.2478A>G	c.(2476-2478)ATA>ATG	p.I826M	ARHGEF11_uc010phu.1_Missense_Mutation_p.I202M|ARHGEF11_uc001fqo.2_Missense_Mutation_p.I786M	NM_198236	NP_937879	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	786	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|pancreas(1)|lung(1)|kidney(1)|pleura(1)	7	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.147541	16.01992	23.332411	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156917106	156917106	910	1	T	C	C	C	680	53	ARHGEF11	4	4
ETV3L	440695	broad.mit.edu	37	1	157069071	157069071	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157069071T>C	uc001fqq.1	-	c.158A>G	c.(157-159)GAG>GGG	p.E53G		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	53	ETS.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Hepatocellular(266;0.158)	Prostate(1639;0.184)												0.261905	62.521164	66.823378	22	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157069071	157069071	5473	1	T	C	C	C	702	54	ETV3L	4	4
SPTA1	6708	broad.mit.edu	37	1	158651402	158651402	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158651402T>C	uc001fst.1	-	c.446A>G	c.(445-447)GAG>GGG	p.E149G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	149	Spectrin 2.				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)													0.157576	54.947758	73.395473	26	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158651402	158651402	15630	1	T	C	C	C	702	54	SPTA1	4	4
OR10J3	441911	broad.mit.edu	37	1	159284283	159284283	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284283A>G	uc010piu.1	-	c.167T>C	c.(166-168)CTT>CCT	p.L56P		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.31761	312.066285	321.468189	101	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159284283	159284283	11317	1	A	G	G	G	39	3	OR10J3	4	4
OR10J5	127385	broad.mit.edu	37	1	159505395	159505395	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159505395T>C	uc010piw.1	-	c.403A>G	c.(403-405)ATC>GTC	p.I135V		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.198582	62.816903	74.744726	28	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159505395	159505395	11318	1	T	C	C	C	663	51	OR10J5	4	4
CD48	962	broad.mit.edu	37	1	160681540	160681540	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160681540C>T	uc001fwo.1	-	c.14G>A	c.(13-15)GGT>GAT	p.G5D	CD48_uc001fwn.2_Missense_Mutation_p.G5D|CD48_uc001fwp.2_Missense_Mutation_p.G5D	NM_001778	NP_001769	P09326	CD48_HUMAN	CD48 molecule precursor	5					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding				0	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.13	16.803139	30.128709	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160681540	160681540	3148	1	C	T	T	T	234	18	CD48	2	2
HSPA6	3310	broad.mit.edu	37	1	161495567	161495567	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161495567T>C	uc001gap.2	+	c.1119T>C	c.(1117-1119)TAT>TAC	p.Y373Y	HSPA6_uc001gaq.2_Silent_p.Y373Y	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	373					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.347826	20.190808	20.66189	8	15	KEEP	---	---	---	---	capture		Silent	SNP	161495567	161495567	7714	1	T	C	C	C	660	51	HSPA6	4	4
C1orf112	55732	broad.mit.edu	37	1	169773226	169773226	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169773226C>A	uc001ggp.2	+	c.323C>A	c.(322-324)TCT>TAT	p.S108Y	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_Missense_Mutation_p.S108Y|C1orf112_uc001ggq.2_Missense_Mutation_p.S108Y|C1orf112_uc009wvt.2_De_novo_Start_OutOfFrame|C1orf112_uc010plu.1_Missense_Mutation_p.S79Y|C1orf112_uc009wvu.1_Missense_Mutation_p.S79Y|C1orf112_uc001ggr.2_Intron|C1orf112_uc010plv.1_Missense_Mutation_p.S50Y	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	108											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.117647	4.475307	9.362066	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169773226	169773226	2052	1	C	A	A	A	416	32	C1orf112	2	2
TNN	63923	broad.mit.edu	37	1	175066708	175066708	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175066708C>T	uc001gkl.1	+	c.1744C>T	c.(1744-1746)CAG>TAG	p.Q582*	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	582	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.333333	58.024467	59.649875	22	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175066708	175066708	16864	1	C	T	T	T	325	25	TNN	5	2
FAM5B	57795	broad.mit.edu	37	1	177250007	177250007	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177250007C>A	uc001glf.2	+	c.1695C>A	c.(1693-1695)CAC>CAA	p.H565Q	FAM5B_uc001glg.2_Missense_Mutation_p.H460Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	565						extracellular region				ovary(2)	2														0.4	54.540891	54.934017	18	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177250007	177250007	5816	1	C	A	A	A	246	19	FAM5B	1	1
CDC73	79577	broad.mit.edu	37	1	193110980	193110980	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:193110980G>T	uc001gtb.2	+	c.513G>T	c.(511-513)AGG>AGT	p.R171S		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	171					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(44)|ovary(1)|pancreas(1)	46										312				0.2	6.516016	7.771978	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	193110980	193110980	3214	1	G	T	T	T	568	44	CDC73	2	2
KDM5B	10765	broad.mit.edu	37	1	202743772	202743772	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202743772C>T	uc009xag.2	-	c.374G>A	c.(373-375)AGG>AAG	p.R125K	KDM5B_uc001gyf.2_Missense_Mutation_p.R125K|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	125	ARID.				negative regulation of transcription, DNA-dependent|oxidation-reduction process	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5														0.12	3.807898	7.349272	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202743772	202743772	8440	1	C	T	T	T	312	24	KDM5B	2	2
ATP2B4	493	broad.mit.edu	37	1	203696674	203696674	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203696674G>C	uc001gzw.2	+	c.3284G>C	c.(3283-3285)CGG>CCG	p.R1095P	ATP2B4_uc001gzv.2_Missense_Mutation_p.R1095P|ATP2B4_uc009xaq.2_Missense_Mutation_p.R1095P|ATP2B4_uc001gzx.2_Missense_Mutation_p.R126P|ATP2B4_uc009xar.2_Missense_Mutation_p.R90P|ATP2B4_uc010pqj.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1095	Cytoplasmic (Potential).|Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)	2	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.088889	1.130408	16.50502	8	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203696674	203696674	1161	1	G	C	C	C	507	39	ATP2B4	3	3
IL10	3586	broad.mit.edu	37	1	206945637	206945637	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206945637G>T	uc001hen.1	-	c.144C>A	c.(142-144)TTC>TTA	p.F48L		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	48					anti-apoptosis|B cell differentiation|B cell proliferation|cell-cell signaling|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of gene-specific transcription|positive regulation of sequence-specific DNA binding transcription factor activity|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)											0.333333	47.927304	49.258087	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206945637	206945637	7920	1	G	T	T	T	581	45	IL10	2	2
PLXNA2	5362	broad.mit.edu	37	1	208315681	208315682	+	Missense_Mutation	DNP	TC	GG	GG			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:208315681_208315682TC>GG	uc001hgz.2	-	c.1498_1499GA>CC	c.(1498-1500)GAG>CCG	p.E500P		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	500	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.199)										0.071429	-1.744803	8.855399	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	208315681	208315682	12546	1	TC	GG	GG	GG	702	54	PLXNA2	4	4
USH2A	7399	broad.mit.edu	37	1	216062388	216062388	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216062388G>A	uc001hku.1	-	c.7603C>T	c.(7603-7605)CCT>TCT	p.P2535S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2535	Fibronectin type-III 12.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.15493	18.775979	26.857855	11	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216062388	216062388	17598	1	G	A	A	A	572	44	USH2A	2	2
HSPG2	3339	broad.mit.edu	37	1	22183555	22183555	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22183555G>A	uc009vqd.2	-	c.5531C>T	c.(5530-5532)TCC>TTC	p.S1844F	HSPG2_uc001bfj.2_Missense_Mutation_p.S1843F	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1843	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.141026	17.281549	26.973081	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22183555	22183555	7730	1	G	A	A	A	533	41	HSPG2	2	2
NVL	4931	broad.mit.edu	37	1	224491431	224491431	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:224491431A>C	uc001hok.2	-	c.954T>G	c.(952-954)ATT>ATG	p.I318M	NVL_uc001hol.2_Missense_Mutation_p.I212M|NVL_uc010pvd.1_Missense_Mutation_p.I227M|NVL_uc010pve.1_Missense_Mutation_p.I102M|NVL_uc010pvf.1_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	318						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity				0				GBM - Glioblastoma multiforme(131;0.00501)										0.478261	77.249254	77.26808	22	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	224491431	224491431	11185	1	A	C	C	C	60	5	NVL	4	4
EPHX1	2052	broad.mit.edu	37	1	226032230	226032230	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226032230G>A	uc001hpk.2	+	c.1072G>A	c.(1072-1074)GTC>ATC	p.V358I	EPHX1_uc001hpl.2_Missense_Mutation_p.V358I	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	358					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)													0.2	25.365514	30.389007	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226032230	226032230	5372	1	G	A	A	A	520	40	EPHX1	1	1
RYR2	6262	broad.mit.edu	37	1	237819147	237819147	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237819147G>A	uc001hyl.1	+	c.7992G>A	c.(7990-7992)CTG>CTA	p.L2664L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2664	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.380952	22.893538	23.155076	8	13	KEEP	---	---	---	---	capture		Silent	SNP	237819147	237819147	14249	1	G	A	A	A	600	47	RYR2	2	2
WDR64	128025	broad.mit.edu	37	1	241904891	241904891	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241904891A>C	uc001hzf.1	+	c.525A>C	c.(523-525)GAA>GAC	p.E175D	WDR64_uc001hze.1_Missense_Mutation_p.E455D	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	455	WD 6.										0	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)											0.196078	26.724173	31.11105	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241904891	241904891	17888	1	A	C	C	C	24	2	WDR64	4	4
ZNF238	10472	broad.mit.edu	37	1	244218033	244218033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244218033G>T	uc001iad.3	+	c.957G>T	c.(955-957)GAG>GAT	p.E319D	ZNF238_uc001iae.2_Missense_Mutation_p.E310D|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_991331	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 1	310	Interaction with DNMT3A.				skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)											0.34375	60.228359	61.609528	22	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	244218033	244218033	18381	1	G	T	T	T	438	34	ZNF238	2	2
CNST	163882	broad.mit.edu	37	1	246784904	246784904	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:246784904G>T	uc001ibp.2	+	c.553G>T	c.(553-555)GAT>TAT	p.D185Y	CNST_uc001ibo.3_Missense_Mutation_p.D185Y	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	185					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0														0.312236	193.251786	200.697375	74	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	246784904	246784904	3772	1	G	T	T	T	533	41	CNST	2	2
OR2M2	391194	broad.mit.edu	37	1	248343905	248343905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343905G>T	uc010pzf.1	+	c.618G>T	c.(616-618)ATG>ATT	p.M206I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	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;0.0245)											0.120833	33.678185	67.594399	29	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343905	248343905	11416	1	G	T	T	T	598	46	OR2M2	2	2
OR2G6	391211	broad.mit.edu	37	1	248685282	248685282	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685282G>A	uc001ien.1	+	c.335G>A	c.(334-336)TGT>TAT	p.C112Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.104167	10.114008	32.573112	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685282	248685282	11406	1	G	A	A	A	624	48	OR2G6	2	2
OR2G6	391211	broad.mit.edu	37	1	248685554	248685554	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685554A>T	uc001ien.1	+	c.607A>T	c.(607-609)AGT>TGT	p.S203C		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.115702	17.161974	34.758129	14	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685554	248685554	11406	1	A	T	T	T	91	7	OR2G6	3	3
OR2T11	127077	broad.mit.edu	37	1	248789751	248789751	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789751A>T	uc001ier.1	-	c.679T>A	c.(679-681)TCT>ACT	p.S227T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.112069	13.08926	30.336354	13	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248789751	248789751	11424	1	A	T	T	T	143	11	OR2T11	3	3
OR14I1	401994	broad.mit.edu	37	1	248845559	248845559	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248845559G>T	uc001ieu.1	-	c.47C>A	c.(46-48)TCT>TAT	p.S16Y		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.336842	87.565798	89.805189	32	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248845559	248845559	11353	1	G	T	T	T	429	33	OR14I1	2	2
SH3BP5L	80851	broad.mit.edu	37	1	249106308	249106308	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249106308C>A	uc001iew.1	-	c.973G>T	c.(973-975)GGC>TGC	p.G325C	SH3BP5L_uc010pzp.1_Missense_Mutation_p.G218C|SH3BP5L_uc010pzq.1_Missense_Mutation_p.G293C|SH3BP5L_uc001iev.1_Missense_Mutation_p.G206C	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	325											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)											0.458333	36.026201	36.061959	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249106308	249106308	14739	1	C	A	A	A	299	23	SH3BP5L	1	1
MACF1	23499	broad.mit.edu	37	1	39900087	39900087	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39900087A>G	uc010oiu.1	+	c.12887A>G	c.(12886-12888)GAA>GGA	p.E4296G	MACF1_uc010ois.1_Missense_Mutation_p.E3794G|MACF1_uc001cda.1_Missense_Mutation_p.E3681G|MACF1_uc001cdc.1_Missense_Mutation_p.E2751G	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3794	Spectrin 25.|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)											0.1	3.669815	10.062961	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39900087	39900087	9521	1	A	G	G	G	117	9	MACF1	4	4
HIVEP3	59269	broad.mit.edu	37	1	41979227	41979227	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41979227C>T	uc001cgz.3	-	c.5665G>A	c.(5665-5667)GCA>ACA	p.A1889T	HIVEP3_uc001cha.3_Missense_Mutation_p.A1889T|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1889					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.192308	9.858192	12.15873	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41979227	41979227	7479	1	C	T	T	T	325	25	HIVEP3	2	2
HIVEP3	59269	broad.mit.edu	37	1	42048566	42048566	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42048566C>T	uc001cgz.3	-	c.1903G>A	c.(1903-1905)GGT>AGT	p.G635S	HIVEP3_uc001cha.3_Missense_Mutation_p.G635S|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.16092	27.390186	36.914787	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42048566	42048566	7479	1	C	T	T	T	286	22	HIVEP3	2	2
RIMKLA	284716	broad.mit.edu	37	1	42880470	42880470	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42880470G>T	uc001chi.2	+	c.1001G>T	c.(1000-1002)GGA>GTA	p.G334V		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	334					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0														0.232143	26.138788	29.826686	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42880470	42880470	13842	1	G	T	T	T	533	41	RIMKLA	2	2
ELAVL4	1996	broad.mit.edu	37	1	50610672	50610673	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:50610672_50610673CC>AA	uc001csa.3	+	c.104_105CC>AA	c.(103-105)TCC>TAA	p.S35*	ELAVL4_uc001cry.3_Nonsense_Mutation_p.S21*|ELAVL4_uc001crz.3_Nonsense_Mutation_p.S18*|ELAVL4_uc001csb.2_Nonsense_Mutation_p.S18*|ELAVL4_uc001csc.3_Nonsense_Mutation_p.S18*|ELAVL4_uc009vyu.2_Nonsense_Mutation_p.S23*|ELAVL4_uc010omz.1_Nonsense_Mutation_p.S23*	NM_001144775	NP_001138247	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 3	18					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2														0.141414	18.776592	31.06747	14	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	50610672	50610673	5243	1	CC	AA	AA	AA	390	30	ELAVL4	5	2
DAB1	1600	broad.mit.edu	37	1	57535035	57535035	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57535035G>C	uc001cys.1	-	c.661C>G	c.(661-663)CAG>GAG	p.Q221E	DAB1_uc001cyt.1_Missense_Mutation_p.Q221E|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.Q221E	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	221					cell differentiation|nervous system development					ovary(1)	1										395				0.144928	41.806693	58.545047	20	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57535035	57535035	4383	1	G	C	C	C	585	45	DAB1	3	3
WDR78	79819	broad.mit.edu	37	1	67288077	67288077	+	Silent	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67288077C>G	uc001dcx.2	-	c.2463G>C	c.(2461-2463)CTG>CTC	p.L821L	WDR78_uc009waw.2_Silent_p.L534L|WDR78_uc009wax.2_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	821	WD 6.									ovary(2)	2														0.136986	20.600353	29.908686	10	63	KEEP	---	---	---	---	capture		Silent	SNP	67288077	67288077	17901	1	C	G	G	G	366	29	WDR78	3	3
AK5	26289	broad.mit.edu	37	1	77763344	77763344	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77763344C>T	uc001dhn.2	+	c.516C>T	c.(514-516)CAC>CAT	p.H172H	AK5_uc001dho.2_Silent_p.H146H|AK5_uc001dhm.1_Silent_p.H148H	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	172					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1														0.180851	32.514203	41.518885	17	77	KEEP	---	---	---	---	capture		Silent	SNP	77763344	77763344	446	1	C	T	T	T	220	17	AK5	2	2
PTGFR	5737	broad.mit.edu	37	1	79002132	79002132	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79002132G>T	uc001din.2	+	c.840G>T	c.(838-840)CTG>CTT	p.L280L	PTGFR_uc001dim.2_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	280	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)	3				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)									0.183673	20.24404	24.846126	9	40	KEEP	---	---	---	---	capture		Silent	SNP	79002132	79002132	13204	1	G	T	T	T	600	47	PTGFR	2	2
WDR63	126820	broad.mit.edu	37	1	85550363	85550363	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85550363G>A	uc001dkt.2	+	c.525G>A	c.(523-525)ACG>ACA	p.T175T	WDR63_uc009wcl.2_Silent_p.T175T	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	175										ovary(2)	2				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)										0.095745	7.304465	22.712834	9	85	KEEP	---	---	---	---	capture		Silent	SNP	85550363	85550363	17887	1	G	A	A	A	496	39	WDR63	1	1
LPPR4	9890	broad.mit.edu	37	1	99771978	99771978	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99771978C>G	uc001dse.2	+	c.1704C>G	c.(1702-1704)AAC>AAG	p.N568K	LPPR4_uc010oue.1_Missense_Mutation_p.N510K	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	568							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.31405	107.209541	110.93092	38	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99771978	99771978	9300	1	C	G	G	G	220	17	LPPR4	3	3
SULF2	55959	broad.mit.edu	37	20	46291890	46291890	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46291890T>G	uc002xto.2	-	c.2294A>C	c.(2293-2295)GAG>GCG	p.E765A	SULF2_uc002xtr.2_Missense_Mutation_p.E765A|SULF2_uc002xtq.2_Missense_Mutation_p.E765A|SULF2_uc010zyd.1_Missense_Mutation_p.E44A	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	765					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)	5										709		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.275862	22.287265	23.599041	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46291890	46291890	15891	20	T	G	G	G	702	54	SULF2	4	4
PRNP	5621	broad.mit.edu	37	20	4680012	4680012	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4680012A>G	uc002wku.2	+	c.146A>G	c.(145-147)TAC>TGC	p.Y49C	PRNP_uc002wkv.2_Missense_Mutation_p.Y49C|PRNP_uc002wkw.2_Missense_Mutation_p.Y49C|PRNP_uc002wkx.2_Missense_Mutation_p.Y49C|PRNP_uc002wkt.1_Missense_Mutation_p.Y49C|PRNP_uc002wky.2_Missense_Mutation_p.Y49C|PRNP_uc010gbe.1_Missense_Mutation_p.Y49C	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	49	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)									0.232558	24.632166	27.446066	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4680012	4680012	12987	20	A	G	G	G	182	14	PRNP	4	4
PREX1	57580	broad.mit.edu	37	20	47266653	47266653	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47266653G>C	uc002xtw.1	-	c.2909C>G	c.(2908-2910)ACC>AGC	p.T970S	PREX1_uc002xtv.1_Missense_Mutation_p.T267S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	970					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.30303	90.513912	93.941258	30	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47266653	47266653	12919	20	G	C	C	C	572	44	PREX1	3	3
ZBP1	81030	broad.mit.edu	37	20	56186875	56186875	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56186875A>C	uc002xyo.2	-	c.782T>G	c.(781-783)CTG>CGG	p.L261R	ZBP1_uc010gjm.2_Missense_Mutation_p.L260R|ZBP1_uc002xyp.2_Missense_Mutation_p.L186R	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	261							double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)											0.25	11.993245	12.901468	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56186875	56186875	18107	20	A	C	C	C	91	7	ZBP1	4	4
DONSON	29980	broad.mit.edu	37	21	34951806	34951806	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34951806C>G	uc002ysk.2	-	c.1413G>C	c.(1411-1413)GAG>GAC	p.E471D	DONSON_uc002ysi.1_Missense_Mutation_p.E231D|DONSON_uc002ysj.2_Missense_Mutation_p.E104D|DONSON_uc002ysl.2_Missense_Mutation_p.E104D|DONSON_uc010gme.2_Missense_Mutation_p.E444D|DONSON_uc002ysm.2_Missense_Mutation_p.E471D	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	471					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2														0.041237	-13.488612	8.474657	4	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34951806	34951806	4890	21	C	G	G	G	415	32	DONSON	3	3
BRWD1	54014	broad.mit.edu	37	21	40570870	40570870	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40570870G>C	uc002yxk.1	-	c.5472C>G	c.(5470-5472)GAC>GAG	p.D1824E	BRWD1_uc010goc.1_Missense_Mutation_p.D467E|BRWD1_uc002yxl.2_Missense_Mutation_p.D1824E	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				Melanoma(170;988 1986 4794 16843 39731)								0.351064	109.148781	110.987316	33	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40570870	40570870	1556	21	G	C	C	C	464	36	BRWD1	3	3
PDE9A	5152	broad.mit.edu	37	21	44108033	44108033	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:44108033G>C	uc002zbm.2	+	c.147G>C	c.(145-147)ACG>ACC	p.T49T	PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Silent_p.T49T|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Missense_Mutation_p.D26H|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Silent_p.T8T|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Silent_p.T49T|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_5'UTR|PDE9A_uc002zca.2_Silent_p.T8T|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Silent_p.T8T|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	49					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding				0														0.204545	23.755415	27.314919	9	35	KEEP	---	---	---	---	capture		Silent	SNP	44108033	44108033	12076	21	G	C	C	C	481	37	PDE9A	3	3
RFPL2	10739	broad.mit.edu	37	22	32590414	32590414	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32590414T>C	uc003amg.3	-	c.183A>G	c.(181-183)AAA>AAG	p.K61K	RFPL2_uc003ame.3_5'Flank|RFPL2_uc003amf.3_Intron|RFPL2_uc003amh.3_Intron	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	61							zinc ion binding				0														0.425	56.873133	57.068328	17	23	KEEP	---	---	---	---	capture		Silent	SNP	32590414	32590414	13725	22	T	C	C	C	829	64	RFPL2	4	4
CSNK1E	1454	broad.mit.edu	37	22	38689321	38689321	+	Missense_Mutation	SNP	C	G	G	rs77945315		TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38689321C>G	uc003avj.2	-	c.1223G>C	c.(1222-1224)AGT>ACT	p.S408T	CSNK1E_uc003avk.2_Missense_Mutation_p.S408T|CSNK1E_uc003avl.1_Non-coding_Transcript|CSNK1E_uc003avm.1_Missense_Mutation_p.S408T|CSNK1E_uc003avn.1_Missense_Mutation_p.S92T|CSNK1E_uc003avo.2_Missense_Mutation_p.S408T	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	408					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein phosphorylation|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)			p.S408N(KS1-Tumor)|p.S408N(HUH6-Tumor)|p.S408N(SKM1-Tumor)|p.S408N(KO52-Tumor)	848				0.083333	1.395429	7.74781	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38689321	38689321	4094	22	C	G	G	G	260	20	CSNK1E	3	3
TOB2	10766	broad.mit.edu	37	22	41832725	41832725	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41832725C>G	uc003azz.1	-	c.625G>C	c.(625-627)GGT>CGT	p.G209R		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	209					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1														1	25.237435	25.229591	7	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41832725	41832725	16889	22	C	G	G	G	286	22	TOB2	3	3
CCDC134	79879	broad.mit.edu	37	22	42221805	42221805	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42221805C>G	uc003bbh.1	+	c.668C>G	c.(667-669)TCC>TGC	p.S223C	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|CCDC134_uc011apg.1_Missense_Mutation_p.S110C	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134 precursor	223						extracellular region				ovary(2)	2														0.259259	83.163441	88.823202	28	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42221805	42221805	2888	22	C	G	G	G	390	30	CCDC134	3	3
WBP2NL	164684	broad.mit.edu	37	22	42416011	42416011	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42416011G>T	uc011ape.1	+	c.317G>T	c.(316-318)GGC>GTC	p.G106V	WBP2NL_uc003bbt.2_Missense_Mutation_p.G106V|WBP2NL_uc011apk.1_5'UTR|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	106					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			ovary(2)	2														0.208054	66.235896	78.005891	31	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42416011	42416011	17832	22	G	T	T	T	546	42	WBP2NL	2	2
TTLL1	25809	broad.mit.edu	37	22	43447822	43447822	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43447822C>A	uc003bdi.2	-	c.963G>T	c.(961-963)AAG>AAT	p.K321N	TTLL1_uc010gzh.2_Intron|TTLL1_uc003bdj.2_Missense_Mutation_p.K207N|TTLL1_uc003bdh.2_Missense_Mutation_p.K283N	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	321	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity				0		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)										0.310345	50.329043	52.187105	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43447822	43447822	17277	22	C	A	A	A	363	28	TTLL1	2	2
EFCAB6	64800	broad.mit.edu	37	22	43933348	43933348	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43933348C>A	uc003bdy.1	-	c.3957G>T	c.(3955-3957)AAG>AAT	p.K1319N	EFCAB6_uc003bdz.1_Missense_Mutation_p.K1167N|EFCAB6_uc010gzi.1_Missense_Mutation_p.K1167N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1319	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.140127	29.846052	49.48203	22	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43933348	43933348	5126	22	C	A	A	A	415	32	EFCAB6	2	2
SLC9A4	389015	broad.mit.edu	37	2	103095660	103095660	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103095660G>C	uc002tbz.3	+	c.619G>C	c.(619-621)GAC>CAC	p.D207H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	207	Helical; Name=F/M5A; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.348485	69.909116	71.244419	23	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103095660	103095660	15213	2	G	C	C	C	533	41	SLC9A4	3	3
MERTK	10461	broad.mit.edu	37	2	112754908	112754908	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112754908G>C	uc002thk.1	+	c.1459G>C	c.(1459-1461)GAT>CAT	p.D487H	MERTK_uc002thl.1_Missense_Mutation_p.D311H	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	487	Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration|protein phosphorylation|visual perception	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|kidney(1)	6										602				0.118343	31.273952	55.45929	20	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112754908	112754908	9868	2	G	C	C	C	429	33	MERTK	3	3
CLASP1	23332	broad.mit.edu	37	2	122176272	122176272	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122176272C>A	uc002tnc.2	-	c.2246G>T	c.(2245-2247)AGT>ATT	p.S749I	CLASP1_uc002tmz.2_5'UTR|CLASP1_uc002tna.2_Intron|CLASP1_uc010yyw.1_Intron|CLASP1_uc002tnb.2_Intron|CLASP1_uc010yyx.1_Intron|CLASP1_uc010yyy.1_Intron|CLASP1_uc010yyz.1_Intron|CLASP1_uc010yza.1_Intron|CLASP1_uc010yzb.1_Intron|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Intron	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	749	Ser-rich.|Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)													0.310345	69.98751	72.778188	27	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122176272	122176272	3590	2	C	A	A	A	260	20	CLASP1	2	2
YSK4	80122	broad.mit.edu	37	2	135744396	135744396	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135744396G>A	uc002tue.1	-	c.2046C>T	c.(2044-2046)AAC>AAT	p.N682N	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.N569N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.N410N|YSK4_uc002tui.3_Silent_p.N699N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	682					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)						411				0.264516	99.012667	106.778471	41	114	KEEP	---	---	---	---	capture		Silent	SNP	135744396	135744396	18078	2	G	A	A	A	620	48	YSK4	2	2
LRP1B	53353	broad.mit.edu	37	2	140995833	140995833	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:140995833T>C	uc002tvj.1	-	c.13448A>G	c.(13447-13449)AAT>AGT	p.N4483S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4483	Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.083333	2.462378	10.930227	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140995833	140995833	9328	2	T	C	C	C	676	52	LRP1B	4	4
LRP1B	53353	broad.mit.edu	37	2	141259351	141259351	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141259351C>G	uc002tvj.1	-	c.8755G>C	c.(8755-8757)GGT>CGT	p.G2919R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2919	Extracellular (Potential).|LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.28	38.425864	40.603589	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141259351	141259351	9328	2	C	G	G	G	273	21	LRP1B	3	3
GCG	2641	broad.mit.edu	37	2	163000564	163000564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163000564C>A	uc002ucc.2	-	c.509G>T	c.(508-510)TGG>TTG	p.W170L		NM_002054	NP_002045	P01275	GLUC_HUMAN	glucagon preproprotein	170					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity				0					Exenatide(DB01276)|Phentolamine(DB00692)									0.169492	20.112779	26.21313	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163000564	163000564	6556	2	C	A	A	A	273	21	GCG	2	2
FAP	2191	broad.mit.edu	37	2	163030271	163030271	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163030271C>A	uc002ucd.2	-	c.1996G>T	c.(1996-1998)GGT>TGT	p.G666C	FAP_uc010fpc.2_Missense_Mutation_p.G215C|FAP_uc010zct.1_Missense_Mutation_p.G641C|FAP_uc010fpd.2_Missense_Mutation_p.G145C	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	666	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.258503	98.677564	106.447637	38	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163030271	163030271	5909	2	C	A	A	A	286	22	FAP	2	2
SCN3A	6328	broad.mit.edu	37	2	165947561	165947561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165947561C>A	uc002ucx.2	-	c.5102G>T	c.(5101-5103)TGC>TTC	p.C1701F	SCN3A_uc010zcy.1_Missense_Mutation_p.C184F|SCN3A_uc002ucy.2_Missense_Mutation_p.C1652F|SCN3A_uc002ucz.2_Missense_Mutation_p.C1652F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1701						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.156951	62.872557	87.921108	35	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165947561	165947561	14400	2	C	A	A	A	325	25	SCN3A	2	2
XIRP2	129446	broad.mit.edu	37	2	168099706	168099706	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168099706G>T	uc002udx.2	+	c.1804G>T	c.(1804-1806)GGC>TGC	p.G602C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G427C|XIRP2_uc010fpq.2_Missense_Mutation_p.G380C|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	427					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.138462	13.474672	21.652718	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168099706	168099706	18011	2	G	T	T	T	559	43	XIRP2	2	2
XIRP2	129446	broad.mit.edu	37	2	168100623	168100623	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168100623G>T	uc002udx.2	+	c.2721G>T	c.(2719-2721)GGG>GGT	p.G907G	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G732G|XIRP2_uc010fpq.2_Silent_p.G685G|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	732	Xin 11.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.084507	1.196982	13.636209	6	65	KEEP	---	---	---	---	capture		Silent	SNP	168100623	168100623	18011	2	G	T	T	T	548	43	XIRP2	2	2
CIR1	9541	broad.mit.edu	37	2	175252428	175252428	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175252428T>C	uc002uim.2	-	c.152A>G	c.(151-153)GAA>GGA	p.E51G	CIR1_uc002uin.2_5'UTR|CIR1_uc002uio.2_5'UTR|CIR1_uc002uip.2_5'UTR	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor	51	Interaction with RBPJ.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1														0.428571	50.618394	50.774256	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175252428	175252428	3566	2	T	C	C	C	806	62	CIR1	4	4
ATF2	1386	broad.mit.edu	37	2	175979488	175979488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175979488G>A	uc002ujl.2	-	c.556C>T	c.(556-558)CAG>TAG	p.Q186*	ATF2_uc010fqv.2_Nonsense_Mutation_p.Q137*|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Nonsense_Mutation_p.Q128*|ATF2_uc002ujn.2_Non-coding_Transcript|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_Non-coding_Transcript|ATF2_uc002ujq.2_Nonsense_Mutation_p.Q186*|ATF2_uc002ujr.2_Non-coding_Transcript|ATF2_uc010fqu.2_Nonsense_Mutation_p.Q168*|ATF2_uc002ujs.2_Nonsense_Mutation_p.Q128*|ATF2_uc002ujt.2_Non-coding_Transcript|ATF2_uc002uju.2_Non-coding_Transcript|ATF2_uc002ujw.1_Nonsense_Mutation_p.Q128*|ATF2_uc002ujx.1_Non-coding_Transcript|ATF2_uc002ujy.1_Nonsense_Mutation_p.Q186*	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	186					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.125)			Pancreas(17;87 705 4534 15538 30988)				377				0.152542	29.565877	43.208265	18	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175979488	175979488	1099	2	G	A	A	A	585	45	ATF2	5	2
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178098810C>A	uc002ulh.3	-	c.235G>T	c.(235-237)GAG>TAG	p.E79*	NFE2L2_uc002ulg.3_Nonsense_Mutation_p.E63*|NFE2L2_uc010zfa.1_Nonsense_Mutation_p.E63*|NFE2L2_uc002uli.3_Nonsense_Mutation_p.E63*|NFE2L2_uc010fra.2_Nonsense_Mutation_p.E63*|NFE2L2_uc010frb.2_Nonsense_Mutation_p.E63*	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)											0.145161	13.530998	21.045049	9	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	178098810	178098810	10768	2	C	A	A	A	416	32	NFE2L2	5	2
TTN	7273	broad.mit.edu	37	2	179393311	179393311	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179393311A>T	uc010zfg.1	-	c.99463T>A	c.(99463-99465)TGT>AGT	p.C33155S	TTN_uc010zfh.1_Missense_Mutation_p.C26850S|TTN_uc010zfi.1_Missense_Mutation_p.C26783S|TTN_uc010zfj.1_Missense_Mutation_p.C26658S|TTN_uc002umq.2_Missense_Mutation_p.C172S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1862										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.153846	10.12415	14.593441	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179393311	179393311	17290	2	A	T	T	T	65	5	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179483162	179483162	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179483162T>A	uc010zfg.1	-	c.39319A>T	c.(39319-39321)AGC>TGC	p.S13107C	TTN_uc010zfh.1_Missense_Mutation_p.S6802C|TTN_uc010zfi.1_Missense_Mutation_p.S6735C|TTN_uc010zfj.1_Missense_Mutation_p.S6610C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3449										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.290698	65.437418	68.814742	25	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179483162	179483162	17290	2	T	A	A	A	702	54	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179540684	179540684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179540684C>A	uc010zfg.1	-	c.30598G>T	c.(30598-30600)GTC>TTC	p.V10200F	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6861F|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	476										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.181818	7.084635	9.180055	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179540684	179540684	17290	2	C	A	A	A	234	18	TTN	2	2
DIRC1	116093	broad.mit.edu	37	2	189599547	189599547	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189599547C>A	uc002uqi.1	-	c.101G>T	c.(100-102)AGC>ATC	p.S34I		NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	34											0			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)											0.141593	25.81951	39.823808	16	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189599547	189599547	4712	2	C	A	A	A	364	28	DIRC1	2	2
DNER	92737	broad.mit.edu	37	2	230253033	230253033	+	Silent	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230253033A>G	uc002vpv.2	-	c.1803T>C	c.(1801-1803)AAT>AAC	p.N601N		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	601	Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			ovary(1)	1		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)										0.131579	27.307436	47.355459	20	132	KEEP	---	---	---	---	capture		Silent	SNP	230253033	230253033	4850	2	A	G	G	G	102	8	DNER	4	4
GIGYF2	26058	broad.mit.edu	37	2	233684583	233684583	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233684583G>C	uc002vtj.3	+	c.2480G>C	c.(2479-2481)CGA>CCA	p.R827P	GIGYF2_uc002vtg.2_Missense_Mutation_p.R800P|GIGYF2_uc002vti.3_Missense_Mutation_p.R806P|GIGYF2_uc002vtk.3_Missense_Mutation_p.R806P|GIGYF2_uc002vth.3_Missense_Mutation_p.R800P|GIGYF2_uc010zmk.1_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.R637P|GIGYF2_uc002vtq.3_Missense_Mutation_p.R139P	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform a	806	Gln-rich.|Glu-rich.				cell death		protein binding			ovary(4)|central_nervous_system(2)	6		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)										0.115385	4.807878	8.594019	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233684583	233684583	6646	2	G	C	C	C	481	37	GIGYF2	3	3
UGT1A10	54575	broad.mit.edu	37	2	234545674	234545674	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234545674C>A	uc002vur.2	+	c.506C>A	c.(505-507)ACC>AAC	p.T169N	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.T169N	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN	UDP glycosyltransferase 1 family, polypeptide	169					flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.196203	67.535662	81.126036	31	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234545674	234545674	17503	2	C	A	A	A	234	18	UGT1A10	2	2
SH3BP4	23677	broad.mit.edu	37	2	235951006	235951006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235951006G>T	uc002vvp.2	+	c.1593G>T	c.(1591-1593)TTG>TTT	p.L531F	SH3BP4_uc010fym.2_Missense_Mutation_p.L531F|SH3BP4_uc002vvq.2_Missense_Mutation_p.L531F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	531					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.290323	24.561608	25.783345	9	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235951006	235951006	14737	2	G	T	T	T	620	48	SH3BP4	2	2
LTBP1	4052	broad.mit.edu	37	2	33482463	33482463	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33482463G>T	uc002ros.2	+	c.2280G>T	c.(2278-2280)AAG>AAT	p.K760N	LTBP1_uc002rot.2_Missense_Mutation_p.K434N|LTBP1_uc002rou.2_Missense_Mutation_p.K434N|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Missense_Mutation_p.K434N|LTBP1_uc010yna.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	760					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.117647	6.111646	13.443999	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33482463	33482463	9449	2	G	T	T	T	425	33	LTBP1	2	2
RASGRP3	25780	broad.mit.edu	37	2	33749054	33749054	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33749054G>T	uc002rox.2	+	c.625G>T	c.(625-627)GTT>TTT	p.V209F	RASGRP3_uc010ync.1_Missense_Mutation_p.V209F|RASGRP3_uc002roy.2_Missense_Mutation_p.V209F	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and	209	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|pancreas(1)	3	all_hematologic(175;0.115)													0.144531	61.511151	92.639239	37	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33749054	33749054	13537	2	G	T	T	T	572	44	RASGRP3	2	2
MAP4K3	8491	broad.mit.edu	37	2	39487787	39487787	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39487787C>A	uc002rro.2	-	c.2268G>T	c.(2266-2268)ACG>ACT	p.T756T	MAP4K3_uc002rrp.2_Silent_p.T735T|MAP4K3_uc010yns.1_Silent_p.T309T	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	756	CNH.				JNK cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|pancreas(1)	7		all_hematologic(82;0.211)								525				0.40625	41.468486	41.714375	13	19	KEEP	---	---	---	---	capture		Silent	SNP	39487787	39487787	9644	2	C	A	A	A	288	23	MAP4K3	1	1
TTC7A	57217	broad.mit.edu	37	2	47287969	47287970	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47287969_47287970GG>TT	uc010fbb.2	+	c.2286_2287GG>TT	c.(2284-2289)GCGGGC>GCTTGC	p.G763C	TTC7A_uc002rvm.2_Missense_Mutation_p.G705C|TTC7A_uc002rvo.2_Missense_Mutation_p.G739C|TTC7A_uc010fbc.2_Missense_Mutation_p.G385C|TTC7A_uc002rvp.2_Missense_Mutation_p.G620C|TTC7A_uc002rvq.2_Missense_Mutation_p.G479C|TTC7A_uc002rvr.2_Missense_Mutation_p.G188C	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	739							binding			breast(1)	1		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)											0.176471	20.345012	25.374309	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47287969	47287970	17267	2	GG	TT	TT	TT	496	39	TTC7A	1	1
FAM161A	84140	broad.mit.edu	37	2	62067078	62067078	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:62067078C>A	uc002sbm.3	-	c.1061G>T	c.(1060-1062)CGA>CTA	p.R354L	FAM161A_uc010ypo.1_Missense_Mutation_p.R354L|FAM161A_uc002sbn.3_Missense_Mutation_p.R164L|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.R245L	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	354					response to stimulus|visual perception					large_intestine(2)|ovary(1)	3														0.256757	49.491503	53.460358	19	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62067078	62067078	5676	2	C	A	A	A	403	31	FAM161A	1	1
PROKR1	10887	broad.mit.edu	37	2	68872970	68872970	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68872970G>A	uc010yqj.1	+	c.17G>A	c.(16-18)GGG>GAG	p.G6E	PROKR1_uc002ses.2_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	6	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1														0.235294	38.864599	43.223192	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68872970	68872970	12995	2	G	A	A	A	559	43	PROKR1	2	2
AAK1	22848	broad.mit.edu	37	2	69769785	69769785	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69769785A>C	uc002sfp.2	-	c.404T>G	c.(403-405)GTA>GGA	p.V135G	AAK1_uc010fdk.2_Missense_Mutation_p.V135G|AAK1_uc010yqm.1_Missense_Mutation_p.V135G	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	135	Protein kinase.				protein phosphorylation	coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0										752				0.11859	47.35136	91.989562	37	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69769785	69769785	17	2	A	C	C	C	182	14	AAK1	4	4
DYSF	8291	broad.mit.edu	37	2	71788996	71788996	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71788996G>A	uc010fen.2	+	c.2331G>A	c.(2329-2331)AAG>AAA	p.K777K	DYSF_uc010feg.2_Silent_p.K790K|DYSF_uc010feh.2_Silent_p.K745K|DYSF_uc002sig.3_Silent_p.K745K|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Silent_p.K759K|DYSF_uc010fef.2_Silent_p.K776K|DYSF_uc002sie.2_Silent_p.K759K|DYSF_uc010fei.2_Silent_p.K776K|DYSF_uc010fek.2_Silent_p.K777K|DYSF_uc010fej.2_Silent_p.K746K|DYSF_uc010fel.2_Silent_p.K746K|DYSF_uc010feo.2_Silent_p.K791K|DYSF_uc010fem.2_Silent_p.K760K|DYSF_uc002sif.2_Silent_p.K760K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	759	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.090909	0.569888	7.992651	4	40	KEEP	---	---	---	---	capture		Silent	SNP	71788996	71788996	5045	2	G	A	A	A	438	34	DYSF	2	2
REG1A	5967	broad.mit.edu	37	2	79350329	79350329	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79350329G>T	uc002snz.2	+	c.489G>T	c.(487-489)AAG>AAT	p.K163N	REG1A_uc010ysd.1_Missense_Mutation_p.K163N	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	163	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.181818	18.472435	22.657621	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79350329	79350329	13679	2	G	T	T	T	464	36	REG1A	2	2
CTNNA2	1496	broad.mit.edu	37	2	80772119	80772120	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80772119_80772120GC>TT	uc010ysh.1	+	c.1303_1304GC>TT	c.(1303-1305)GCC>TTC	p.A435F	CTNNA2_uc010yse.1_Missense_Mutation_p.A435F|CTNNA2_uc010ysf.1_Missense_Mutation_p.A435F|CTNNA2_uc010ysg.1_Missense_Mutation_p.A435F|CTNNA2_uc010ysi.1_Missense_Mutation_p.A67F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	435					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				0.4	35.393278	35.655858	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	80772119	80772120	4172	2	GC	TT	TT	TT	546	42	CTNNA2	2	2
CNGA3	1261	broad.mit.edu	37	2	99012586	99012586	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99012586C>A	uc002syt.2	+	c.953C>A	c.(952-954)GCC>GAC	p.A318D	CNGA3_uc002syu.2_Missense_Mutation_p.A300D|CNGA3_uc010fij.2_Missense_Mutation_p.A322D	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	318	Helical; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.09589	3.965522	15.92714	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99012586	99012586	3736	2	C	A	A	A	338	26	CNGA3	2	2
MITD1	129531	broad.mit.edu	37	2	99788098	99788098	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99788098G>A	uc002szs.1	-	c.265C>T	c.(265-267)CAC>TAC	p.H89Y	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport,	89					protein transport	late endosome membrane				large_intestine(1)|ovary(1)	2														0.102564	3.369684	9.509524	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99788098	99788098	9985	2	G	A	A	A	585	45	MITD1	2	2
DZIP3	9666	broad.mit.edu	37	3	108343296	108343296	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108343296C>G	uc003dxd.2	+	c.381C>G	c.(379-381)CAC>CAG	p.H127Q	DZIP3_uc003dxf.1_Missense_Mutation_p.H127Q|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.H127Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	127					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.153846	12.824477	17.292108	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108343296	108343296	5051	3	C	G	G	G	233	18	DZIP3	3	3
GRAMD1C	54762	broad.mit.edu	37	3	113619945	113619945	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113619945C>G	uc003eaq.3	+	c.608C>G	c.(607-609)GCT>GGT	p.A203G	GRAMD1C_uc011bil.1_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.2_Missense_Mutation_p.A36G|GRAMD1C_uc003eas.2_5'UTR	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	203						integral to membrane				ovary(2)	2														0.119565	15.246604	28.344039	11	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113619945	113619945	7025	3	C	G	G	G	364	28	GRAMD1C	3	3
KIAA1407	57577	broad.mit.edu	37	3	113737669	113737669	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113737669T>G	uc003eax.2	-	c.1019A>C	c.(1018-1020)CAT>CCT	p.H340P	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.H318P|KIAA1407_uc011bip.1_Missense_Mutation_p.H327P	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	340										ovary(2)	2														0.151013	171.999288	235.343386	82	461	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113737669	113737669	8538	3	T	G	G	G	663	51	KIAA1407	4	4
CAND2	23066	broad.mit.edu	37	3	12858058	12858058	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12858058G>T	uc003bxk.2	+	c.1627G>T	c.(1627-1629)GTG>TTG	p.V543L	CAND2_uc003bxj.2_Missense_Mutation_p.V450L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	543	HEAT 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|transcription activator activity			pancreas(1)	1						GBM(43;676 868 1633 6395 37496)								0.208333	10.961006	12.852758	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12858058	12858058	2733	3	G	T	T	T	572	44	CAND2	2	2
COL6A6	131873	broad.mit.edu	37	3	130284242	130284242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130284242C>T	uc010htl.2	+	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	356	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.265625	137.752016	147.273228	51	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130284242	130284242	3841	3	C	T	T	T	295	23	COL6A6	5	1
ATR	545	broad.mit.edu	37	3	142257451	142257451	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142257451C>G	uc003eux.3	-	c.3598G>C	c.(3598-3600)GTT>CTT	p.V1200L		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1200					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.093458	9.564366	27.34686	10	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142257451	142257451	1223	3	C	G	G	G	221	17	ATR	3	3
ATR	545	broad.mit.edu	37	3	142281172	142281172	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142281172G>A	uc003eux.3	-	c.1072C>T	c.(1072-1074)CCA>TCA	p.P358S		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	358					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|breast(4)|ovary(3)|skin(2)|stomach(1)|central_nervous_system(1)|liver(1)	17										936				0.068182	-1.909616	6.577734	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142281172	142281172	1223	3	G	A	A	A	546	42	ATR	2	2
PLSCR4	57088	broad.mit.edu	37	3	145917613	145917613	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145917613G>C	uc010huy.2	-	c.611C>G	c.(610-612)TCT>TGT	p.S204C	PLSCR4_uc010huz.2_Missense_Mutation_p.S204C|PLSCR4_uc003evt.3_Missense_Mutation_p.S204C|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	204	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0														0.405405	50.41927	50.708305	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145917613	145917613	12538	3	G	C	C	C	429	33	PLSCR4	3	3
GPR149	344758	broad.mit.edu	37	3	154147167	154147167	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154147167T>A	uc003faa.2	-	c.238A>T	c.(238-240)ATG>TTG	p.M80L		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	80	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.094937	10.324466	36.333673	15	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154147167	154147167	6929	3	T	A	A	A	663	51	GPR149	3	3
PLCH1	23007	broad.mit.edu	37	3	155205894	155205894	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155205894A>T	uc011bok.1	-	c.2506T>A	c.(2506-2508)TAC>AAC	p.Y836N	PLCH1_uc011boj.1_Missense_Mutation_p.Y836N|PLCH1_uc011bol.1_Missense_Mutation_p.Y818N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	836					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)											0.325581	38.432798	39.594716	14	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155205894	155205894	12463	3	A	T	T	T	195	15	PLCH1	3	3
SKIL	6498	broad.mit.edu	37	3	170110049	170110049	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170110049G>T	uc003fgu.2	+	c.1899G>T	c.(1897-1899)TTG>TTT	p.L633F	SKIL_uc011bps.1_Missense_Mutation_p.L613F|SKIL_uc003fgv.2_Missense_Mutation_p.L587F|SKIL_uc003fgw.2_Missense_Mutation_p.L633F	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	633	Potential.				cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)							159				0.0625	-6.333887	12.821409	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170110049	170110049	14853	3	G	T	T	T	607	47	SKIL	2	2
SLC7A14	57709	broad.mit.edu	37	3	170185069	170185069	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170185069T>A	uc003fgz.2	-	c.2090A>T	c.(2089-2091)GAC>GTC	p.D697V	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	697						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.0625	-4.349013	8.414921	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170185069	170185069	15193	3	T	A	A	A	754	58	SLC7A14	3	3
NAALADL2	254827	broad.mit.edu	37	3	175184864	175184864	+	Silent	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:175184864T>G	uc003fit.2	+	c.1425T>G	c.(1423-1425)CGT>CGG	p.R475R	NAALADL2_uc003fiu.1_Silent_p.R468R|NAALADL2_uc010hwy.1_Silent_p.R249R|NAALADL2_uc010hwz.1_Silent_p.R69R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	475	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)										0.046823	-32.301076	33.141404	14	285	KEEP	---	---	---	---	capture		Silent	SNP	175184864	175184864	10525	3	T	G	G	G	756	59	NAALADL2	4	4
TBL1XR1	79718	broad.mit.edu	37	3	176755885	176755886	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:176755885_176755886CC>AA	uc003fiw.3	-	c.1122_splice	c.e12+1	p.K374_splice	TBL1XR1_uc003fix.3_Splice_Site_DNP_p.K374_splice|TBL1XR1_uc011bpz.1_Splice_Site_DNP_p.K46_splice	NM_024665	NP_078941			transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|promoter binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)											0.292929	83.133996	86.935246	29	70	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	176755885	176755886	16166	3	CC	AA	AA	AA	234	18	TBL1XR1	5	2
TBL1XR1	79718	broad.mit.edu	37	3	176767882	176767882	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:176767882C>A	uc003fiw.3	-	c.605G>T	c.(604-606)AGC>ATC	p.S202I	TBL1XR1_uc003fix.3_Missense_Mutation_p.S202I|TBL1XR1_uc011bpz.1_5'UTR	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	202	WD 1.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|promoter binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)											0.096257	10.904321	41.472476	18	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176767882	176767882	16166	3	C	A	A	A	364	28	TBL1XR1	2	2
HRG	3273	broad.mit.edu	37	3	186394878	186394878	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186394878C>A	uc003fqq.2	+	c.784C>A	c.(784-786)CCC>ACC	p.P262T		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	262					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)										0.095355	14.398064	81.655401	39	370	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186394878	186394878	7646	3	C	A	A	A	390	30	HRG	2	2
LRRC33	375387	broad.mit.edu	37	3	196387777	196387777	+	Silent	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196387777C>G	uc003fwv.2	+	c.1263C>G	c.(1261-1263)CTC>CTG	p.L421L		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	421	Extracellular (Potential).|LRR 14.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)										0.086957	2.19778	14.118619	6	63	KEEP	---	---	---	---	capture		Silent	SNP	196387777	196387777	9363	3	C	G	G	G	405	32	LRRC33	3	3
BDH1	622	broad.mit.edu	37	3	197241142	197241142	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:197241142C>T	uc003fxr.2	-	c.555G>A	c.(553-555)AGG>AGA	p.R185R	BDH1_uc003fxs.2_Silent_p.R185R|BDH1_uc003fxt.2_Silent_p.R98R|BDH1_uc003fxu.2_Silent_p.R185R	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	185					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process|oxidation-reduction process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)									0.060345	-8.4613	14.966717	7	109	KEEP	---	---	---	---	capture		Silent	SNP	197241142	197241142	1412	3	C	T	T	T	285	22	BDH1	2	2
TRANK1	9881	broad.mit.edu	37	3	36897786	36897786	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36897786C>A	uc003cgj.2	-	c.1645G>T	c.(1645-1647)GAT>TAT	p.D549Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	1099	Glu-rich.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.255814	25.001017	27.329559	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36897786	36897786	16998	3	C	A	A	A	416	32	TRANK1	2	2
SCN11A	11280	broad.mit.edu	37	3	38913739	38913739	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38913739C>T	uc011ays.1	-	c.3440G>A	c.(3439-3441)CGG>CAG	p.R1147Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1147	Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III.				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)									0.151316	42.638384	60.32873	23	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38913739	38913739	14395	3	C	T	T	T	299	23	SCN11A	1	1
USP4	7375	broad.mit.edu	37	3	49337975	49337975	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49337975C>T	uc003cwq.2	-	c.1437G>A	c.(1435-1437)CTG>CTA	p.L479L	USP4_uc003cwo.2_Silent_p.L191L|USP4_uc003cwp.2_Silent_p.L209L|USP4_uc003cwr.2_Silent_p.L432L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	479					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)	3		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)										0.320755	45.253916	46.767877	17	36	KEEP	---	---	---	---	capture		Silent	SNP	49337975	49337975	17635	3	C	T	T	T	314	25	USP4	2	2
BSN	8927	broad.mit.edu	37	3	49662731	49662731	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49662731G>A	uc003cxe.3	+	c.548G>A	c.(547-549)AGC>AAC	p.S183N		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	183	C4-type (Potential).				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.266667	52.360073	56.053397	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49662731	49662731	1561	3	G	A	A	A	442	34	BSN	2	2
BSN	8927	broad.mit.edu	37	3	49694598	49694598	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49694598G>T	uc003cxe.3	+	c.7609G>T	c.(7609-7611)GAC>TAC	p.D2537Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2537					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.368421	18.117721	18.407708	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49694598	49694598	1561	3	G	T	T	T	429	33	BSN	2	2
TLR9	54106	broad.mit.edu	37	3	52257640	52257640	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52257640C>T	uc003ddb.2	-	c.983G>A	c.(982-984)CGC>CAC	p.R328H	TLR9_uc003dda.1_Missense_Mutation_p.R231H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	231	LRR 7.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)					82				0.090909	1.001373	6.567947	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52257640	52257640	16488	3	C	T	T	T	351	27	TLR9	1	1
FAM19A1	407738	broad.mit.edu	37	3	68587942	68587942	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:68587942G>T	uc003dnd.2	+	c.295G>T	c.(295-297)GAG>TAG	p.E99*	FAM19A1_uc003dne.2_Nonsense_Mutation_p.E99*|FAM19A1_uc003dng.2_Nonsense_Mutation_p.E99*	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine	99						endoplasmic reticulum|extracellular region				ovary(1)	1		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)										0.209302	19.78447	23.124061	9	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68587942	68587942	5745	3	G	T	T	T	533	41	FAM19A1	5	2
ST3GAL6	10402	broad.mit.edu	37	3	98487365	98487365	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98487365T>A	uc010hpd.2	+	c.240T>A	c.(238-240)AAT>AAA	p.N80K	ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dsz.2_Missense_Mutation_p.N27K|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.N27K	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	27	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1														0.241135	90.776708	99.399757	34	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98487365	98487365	15737	3	T	A	A	A	660	51	ST3GAL6	3	3
PLA2G12A	81579	broad.mit.edu	37	4	110639891	110639891	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110639891C>A	uc003hzp.2	-	c.233G>T	c.(232-234)GGT>GTT	p.G78V	PLA2G12A_uc010img.2_Missense_Mutation_p.G78V	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	78					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)										0.191489	18.845631	23.026907	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110639891	110639891	12416	4	C	A	A	A	234	18	PLA2G12A	2	2
CFI	3426	broad.mit.edu	37	4	110687940	110687940	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110687940C>A	uc011cft.1	-	c.98G>T	c.(97-99)TGC>TTC	p.C33F	CFI_uc003hzr.3_Missense_Mutation_p.C33F|CFI_uc003hzs.3_Missense_Mutation_p.C33F	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	33					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)						317				0.126761	12.726397	22.374818	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110687940	110687940	3422	4	C	A	A	A	325	25	CFI	2	2
PITX2	5308	broad.mit.edu	37	4	111539531	111539532	+	Missense_Mutation	DNP	GG	TC	TC			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111539531_111539532GG>TC	uc003iac.2	-	c.724_725CC>GA	c.(724-726)CCG>GAG	p.P242E	PITX2_uc003iad.2_Missense_Mutation_p.P235E|PITX2_uc003iae.2_Missense_Mutation_p.P189E|PITX2_uc010iml.2_Missense_Mutation_p.P106E|PITX2_uc003iaf.2_Missense_Mutation_p.P235E	NM_000325	NP_000316	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	235					determination of left/right symmetry|organ morphogenesis|regulation of transcription, DNA-dependent	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding|transcription regulator activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)										0.25	51.56401	56.31783	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	111539531	111539532	12379	4	GG	TC	TC	TC	507	39	PITX2	1	1
ANK2	287	broad.mit.edu	37	4	114179250	114179250	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114179250C>T	uc003ibe.3	+	c.1233C>T	c.(1231-1233)ATC>ATT	p.I411I	ANK2_uc003ibd.3_Silent_p.I390I|ANK2_uc003ibf.3_Silent_p.I411I|ANK2_uc003ibc.2_Silent_p.I387I|ANK2_uc011cgb.1_Silent_p.I426I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	411	ANK 12.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.321429	74.092006	76.472892	27	57	KEEP	---	---	---	---	capture		Silent	SNP	114179250	114179250	624	4	C	T	T	T	369	29	ANK2	2	2
MFSD8	256471	broad.mit.edu	37	4	128861088	128861088	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128861088C>A	uc003ifp.2	-	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	MFSD8_uc011cgu.1_Missense_Mutation_p.Q161H|MFSD8_uc011cgv.1_Missense_Mutation_p.Q168H|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	206	Extracellular (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.266667	19.685128	21.161501	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128861088	128861088	9928	4	C	A	A	A	415	32	MFSD8	2	2
ZNF827	152485	broad.mit.edu	37	4	146696992	146696992	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146696992C>G	uc003ikn.2	-	c.2642G>C	c.(2641-2643)AGC>ACC	p.S881T	ZNF827_uc003ikm.2_Missense_Mutation_p.S881T|ZNF827_uc010iox.2_Missense_Mutation_p.S531T|ZNF827_uc003ikl.2_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)													0.192308	48.637482	57.833276	20	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146696992	146696992	18779	4	C	G	G	G	364	28	ZNF827	3	3
TRIM2	23321	broad.mit.edu	37	4	154237007	154237007	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154237007C>G	uc003inh.2	+	c.1638C>G	c.(1636-1638)TTC>TTG	p.F546L	TRIM2_uc003ing.2_Missense_Mutation_p.F519L	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 1	519						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)										0.222222	34.470856	38.303478	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154237007	154237007	17038	4	C	G	G	G	376	29	TRIM2	3	3
RBM46	166863	broad.mit.edu	37	4	155717947	155717947	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155717947G>C	uc003ioo.2	+	c.43G>C	c.(43-45)GTT>CTT	p.V15L	RBM46_uc011cim.1_Missense_Mutation_p.V15L|RBM46_uc003iop.1_Missense_Mutation_p.V15L	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	15							nucleotide binding|RNA binding			central_nervous_system(1)	1	all_hematologic(180;0.24)	Renal(120;0.0854)												0.288889	36.627115	38.446692	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155717947	155717947	13602	4	G	C	C	C	468	36	RBM46	3	3
TKTL2	84076	broad.mit.edu	37	4	164393215	164393215	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164393215C>A	uc003iqp.3	-	c.1672G>T	c.(1672-1674)GGC>TGC	p.G558C		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	558						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)												0.257576	45.645117	49.15979	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164393215	164393215	16465	4	C	A	A	A	299	23	TKTL2	1	1
WDR17	116966	broad.mit.edu	37	4	177071009	177071009	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177071009A>T	uc003iuj.2	+	c.2021A>T	c.(2020-2022)GAC>GTC	p.D674V	WDR17_uc003iuk.2_Missense_Mutation_p.D650V|WDR17_uc003ium.3_Missense_Mutation_p.D650V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	674	WD 12.									ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.232877	38.939314	43.707719	17	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177071009	177071009	17850	4	A	T	T	T	130	10	WDR17	3	3
NCAPG	64151	broad.mit.edu	37	4	17816939	17816939	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17816939C>G	uc003gpp.2	+	c.733C>G	c.(733-735)CAG>GAG	p.Q245E	NCAPG_uc011bxj.1_Intron	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	245	HEAT 4.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)										0.185185	12.158136	14.667411	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17816939	17816939	10606	4	C	G	G	G	377	29	NCAPG	3	3
GRXCR1	389207	broad.mit.edu	37	4	42895485	42895485	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42895485T>A	uc003gwt.2	+	c.202T>A	c.(202-204)TCA>ACA	p.S68T		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	68					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1														0.384	134.067972	135.543179	48	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42895485	42895485	7092	4	T	A	A	A	754	58	GRXCR1	3	3
KCTD8	386617	broad.mit.edu	37	4	44177124	44177124	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44177124G>T	uc003gwu.2	-	c.1105C>A	c.(1105-1107)CCC>ACC	p.P369T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	369						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.26506	106.517917	114.804484	44	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44177124	44177124	8421	4	G	T	T	T	533	41	KCTD8	2	2
GNPDA2	132789	broad.mit.edu	37	4	44705105	44705105	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44705105C>A	uc003gwy.2	-	c.824G>T	c.(823-825)GGA>GTA	p.G275V	GNPDA2_uc010iga.2_Missense_Mutation_p.G241V|GNPDA2_uc011bzb.1_Missense_Mutation_p.G205V	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	275					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						Colon(54;743 1010 7604 16453 19544)								0.166667	11.126116	14.919874	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44705105	44705105	6812	4	C	A	A	A	390	30	GNPDA2	2	2
GABRG1	2565	broad.mit.edu	37	4	46053535	46053535	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46053535G>T	uc003gxb.2	-	c.1037C>A	c.(1036-1038)GCA>GAA	p.A346E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	346	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)										0.295455	106.269788	111.212434	39	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46053535	46053535	6422	4	G	T	T	T	598	46	GABRG1	2	2
PDGFRA	5156	broad.mit.edu	37	4	55127361	55127361	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55127361T>G	uc003han.3	+	c.149T>G	c.(148-150)TTT>TGT	p.F50C	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Missense_Mutation_p.F50C|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	50	Ig-like C2-type 1.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.24031	86.263334	94.200175	31	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55127361	55127361	12082	4	T	G	G	G	832	64	PDGFRA	4	4
AASDH	132949	broad.mit.edu	37	4	57220929	57220929	+	Silent	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57220929A>T	uc003hbn.2	-	c.1152T>A	c.(1150-1152)GTT>GTA	p.V384V	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.V231V|AASDH_uc003hbo.2_Silent_p.V284V|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.V384V|AASDH_uc003hbp.2_Silent_p.V384V	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	384					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)												0.217391	32.585311	37.669591	15	54	KEEP	---	---	---	---	capture		Silent	SNP	57220929	57220929	23	4	A	T	T	T	54	5	AASDH	3	3
CSN3	1448	broad.mit.edu	37	4	71114958	71114958	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71114958C>G	uc003hfe.3	+	c.331C>G	c.(331-333)CCA>GCA	p.P111A		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	111						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.176471	17.640435	22.675876	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71114958	71114958	4090	4	C	G	G	G	286	22	CSN3	3	3
SCARB2	950	broad.mit.edu	37	4	77089567	77089567	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77089567T>C	uc003hju.1	-	c.1176A>G	c.(1174-1176)TTA>TTG	p.L392L	SCARB2_uc011cbu.1_Silent_p.L249L	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	392	Lumenal (Potential).				cell adhesion	integral to plasma membrane|lysosomal membrane|membrane fraction	protein binding|receptor activity				0			Lung(101;0.196)											0.167883	52.439575	66.753902	23	114	KEEP	---	---	---	---	capture		Silent	SNP	77089567	77089567	14363	4	T	C	C	C	686	53	SCARB2	4	4
WDFY3	23001	broad.mit.edu	37	4	85771070	85771070	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85771070A>G	uc003hpd.2	-	c.289T>C	c.(289-291)TCA>CCA	p.S97P	WDFY3_uc003hpf.2_Missense_Mutation_p.S97P	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	97						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.306122	128.463353	133.428268	45	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85771070	85771070	17842	4	A	G	G	G	156	12	WDFY3	4	4
MMRN1	22915	broad.mit.edu	37	4	90857477	90857477	+	Silent	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90857477A>G	uc003hst.2	+	c.2646A>G	c.(2644-2646)AAA>AAG	p.K882K	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.K624K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	882					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.275862	24.587792	25.899111	8	21	KEEP	---	---	---	---	capture		Silent	SNP	90857477	90857477	10061	4	A	G	G	G	37	3	MMRN1	4	4
CTNND2	1501	broad.mit.edu	37	5	11346578	11346578	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346578C>T	uc003jfa.1	-	c.1534G>A	c.(1534-1536)GTT>ATT	p.V512I	CTNND2_uc010itt.2_Missense_Mutation_p.V421I|CTNND2_uc011cmy.1_Missense_Mutation_p.V175I|CTNND2_uc011cmz.1_Missense_Mutation_p.V79I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.V79I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	512					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.236364	29.544812	33.041587	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346578	11346578	4179	5	C	T	T	T	221	17	CTNND2	2	2
SNX2	6643	broad.mit.edu	37	5	122161790	122161791	+	Missense_Mutation	DNP	GC	TG	TG			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122161790_122161791GC>TG	uc003kte.2	+	c.1258_1259GC>TG	c.(1258-1260)GCT>TGT	p.A420C	SNX2_uc011cwn.1_Missense_Mutation_p.A303C	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	420					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)										0.217391	24.223501	27.612019	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	122161790	122161791	15391	5	GC	TG	TG	TG	598	46	SNX2	2	2
DNAH5	1767	broad.mit.edu	37	5	13729635	13729635	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13729635T>C	uc003jfd.2	-	c.11796A>G	c.(11794-11796)CCA>CCG	p.P3932P	DNAH5_uc003jfc.2_Silent_p.P100P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3932					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)													0.289855	48.366332	51.101167	20	49	KEEP	---	---	---	---	capture		Silent	SNP	13729635	13729635	4787	5	T	C	C	C	808	63	DNAH5	4	4
PCDHA6	56142	broad.mit.edu	37	5	140208840	140208840	+	Silent	SNP	G	T	T	rs365581	byFrequency	TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140208840G>T	uc003lho.2	+	c.1164G>T	c.(1162-1164)TCG>TCT	p.S388S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S388S|PCDHA6_uc011dab.1_Silent_p.S388S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	388	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.330579	116.564673	119.639746	40	81	KEEP	---	---	---	---	capture		Silent	SNP	140208840	140208840	11948	5	G	T	T	T	483	38	PCDHA6	1	1
PCDHA12	56137	broad.mit.edu	37	5	140256799	140256799	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140256799T>A	uc003lic.2	+	c.1742T>A	c.(1741-1743)GTA>GAA	p.V581E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V581E	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	581	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.44898	62.137353	62.248913	22	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140256799	140256799	11942	5	T	A	A	A	741	57	PCDHA12	3	3
PCDHAC1	56135	broad.mit.edu	37	5	140307540	140307540	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140307540C>T	uc003lih.2	+	c.1063C>T	c.(1063-1065)CCT>TCT	p.P355S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.P355S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	355	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.320988	70.720829	73.026927	26	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140307540	140307540	11952	5	C	T	T	T	286	22	PCDHAC1	2	2
LPCAT1	79888	broad.mit.edu	37	5	1501647	1501647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1501647C>A	uc003jcm.2	-	c.207G>T	c.(205-207)TGG>TGT	p.W69C		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	69	Helical; Signal-anchor for type II membrane protein; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)										0.272727	23.06515	24.598689	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1501647	1501647	9283	5	C	A	A	A	338	26	LPCAT1	2	2
ZNF354B	117608	broad.mit.edu	37	5	178310767	178310767	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178310767T>A	uc003mjl.2	+	c.1314T>A	c.(1312-1314)TAT>TAA	p.Y438*	ZNF354B_uc003mjm.2_Nonsense_Mutation_p.Y438*	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.345455	56.40956	57.568945	19	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	178310767	178310767	18457	5	T	A	A	A	634	49	ZNF354B	5	3
CDH6	1004	broad.mit.edu	37	5	31299654	31299654	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31299654G>C	uc003jhe.1	+	c.727G>C	c.(727-729)GGC>CGC	p.G243R	CDH6_uc003jhd.1_Missense_Mutation_p.G243R	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	243	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.G243S(1)		ovary(4)|large_intestine(1)	5														0.217949	41.041539	46.756076	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31299654	31299654	3243	5	G	C	C	C	507	39	CDH6	3	3
NPR3	4883	broad.mit.edu	37	5	32774829	32774829	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32774829G>C	uc003jhv.2	+	c.1075G>C	c.(1075-1077)GAA>CAA	p.E359Q	NPR3_uc010iuo.2_Missense_Mutation_p.E143Q|NPR3_uc011cnz.1_Missense_Mutation_p.E143Q|NPR3_uc003jhu.2_Missense_Mutation_p.E359Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	359	Extracellular (Potential).				diuresis|osteoclast proliferation|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)									0.095436	16.816882	56.467592	23	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32774829	32774829	11001	5	G	C	C	C	585	45	NPR3	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33576362	33576362	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33576362G>A	uc003jia.1	-	c.3769C>T	c.(3769-3771)CCA>TCA	p.P1257S	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1172S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1257	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.16568	48.815076	66.722441	28	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33576362	33576362	258	5	G	A	A	A	546	42	ADAMTS12	2	2
C6	729	broad.mit.edu	37	5	41161794	41161794	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41161794C>T	uc003jmk.2	-	c.1458_splice	c.e10+1	p.E486_splice	C6_uc003jml.1_Splice_Site_SNP_p.E486_splice	NM_000065	NP_000056			complement component 6 precursor						complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)	5		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)												0.323529	55.448508	57.37159	22	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41161794	41161794	2416	5	C	T	T	T	234	18	C6	5	2
C6	729	broad.mit.edu	37	5	41176655	41176655	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41176655G>T	uc003jmk.2	-	c.1090C>A	c.(1090-1092)CAT>AAT	p.H364N	C6_uc003jml.1_Missense_Mutation_p.H364N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	364	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)	5		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)												0.304878	66.639884	69.427541	25	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41176655	41176655	2416	5	G	T	T	T	585	45	C6	2	2
HCN1	348980	broad.mit.edu	37	5	45645509	45645509	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45645509G>T	uc003jok.2	-	c.627C>A	c.(625-627)GAC>GAA	p.D209E		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	209	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.130435	12.225074	21.394972	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45645509	45645509	7278	5	G	T	T	T	568	44	HCN1	2	2
HTR1A	3350	broad.mit.edu	37	5	63256808	63256808	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63256808C>A	uc011cqt.1	-	c.739G>T	c.(739-741)GCC>TCC	p.A247S		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	247	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.100917	6.475983	23.796681	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63256808	63256808	7736	5	C	A	A	A	351	27	HTR1A	1	1
HTR1A	3350	broad.mit.edu	37	5	63257056	63257056	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63257056C>A	uc011cqt.1	-	c.491G>T	c.(490-492)GGC>GTC	p.G164V		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	164	Helical; Name=4; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.2	34.543582	41.647463	17	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63257056	63257056	7736	5	C	A	A	A	338	26	HTR1A	2	2
TAF9	6880	broad.mit.edu	37	5	68661018	68661018	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:68661018T>A	uc003jwc.1	-	c.547A>T	c.(547-549)ACA>TCA	p.T183S	TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.T183S|TAF9_uc003jwe.1_Missense_Mutation_p.T183S|TAF9_uc003jwf.1_Missense_Mutation_p.T183S	NM_003187	NP_003178	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding	183					histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of response to cytokine stimulus|response to DNA damage stimulus|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|promoter binding|transcription coactivator activity				0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)										0.25	64.93016	70.609212	25	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68661018	68661018	16056	5	T	A	A	A	767	59	TAF9	3	3
HMGCR	3156	broad.mit.edu	37	5	74646642	74646642	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74646642A>G	uc011cst.1	+	c.869A>G	c.(868-870)CAC>CGC	p.H290R	HMGCR_uc003kdp.2_Missense_Mutation_p.H270R|HMGCR_uc003kdq.2_Missense_Mutation_p.H270R|HMGCR_uc010izn.1_Missense_Mutation_p.H71R	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	270					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)									0.25	54.839903	59.819397	22	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74646642	74646642	7522	5	A	G	G	G	78	6	HMGCR	4	4
PDE8B	8622	broad.mit.edu	37	5	76708954	76708954	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:76708954C>A	uc003kfa.2	+	c.1731C>A	c.(1729-1731)GGC>GGA	p.G577G	PDE8B_uc003kfb.2_Silent_p.G557G|PDE8B_uc003kfc.2_Silent_p.G522G|PDE8B_uc003kfd.2_Silent_p.G530G|PDE8B_uc003kfe.2_Silent_p.G480G	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	577					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)										0.152542	47.721007	68.16201	27	150	KEEP	---	---	---	---	capture		Silent	SNP	76708954	76708954	12075	5	C	A	A	A	353	28	PDE8B	2	2
ZCCHC9	84240	broad.mit.edu	37	5	80604472	80604472	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80604472G>T	uc003khj.2	+	c.477G>T	c.(475-477)AGG>AGT	p.R159S	RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Missense_Mutation_p.R159S|ZCCHC9_uc003khi.2_Missense_Mutation_p.R159S	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	159	CCHC-type 2.						nucleic acid binding|zinc ion binding			ovary(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)										0.098361	4.217145	14.051439	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80604472	80604472	18183	5	G	T	T	T	568	44	ZCCHC9	2	2
VCAN	1462	broad.mit.edu	37	5	82816104	82816104	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82816104G>T	uc003kii.3	+	c.1979G>T	c.(1978-1980)GGT>GTT	p.G660V	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G660V|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	660	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.189655	25.290587	30.515089	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82816104	82816104	17703	5	G	T	T	T	572	44	VCAN	2	2
SEMA5A	9037	broad.mit.edu	37	5	9052083	9052083	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9052083C>T	uc003jek.2	-	c.2747G>A	c.(2746-2748)CGC>CAC	p.R916H		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	916	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.411765	19.920782	20.036555	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9052083	9052083	14523	5	C	T	T	T	351	27	SEMA5A	1	1
ARSK	153642	broad.mit.edu	37	5	94890989	94890989	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94890989C>T	uc003kld.2	+	c.7C>T	c.(7-9)CTG>TTG	p.L3L	ARSK_uc010jbg.2_5'UTR|ARSK_uc011cum.1_Non-coding_Transcript|TTC37_uc003klb.2_5'Flank|TTC37_uc010jbf.1_5'Flank|ARSK_uc003klc.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	3						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)										0.444444	24.195008	24.243752	8	10	KEEP	---	---	---	---	capture		Silent	SNP	94890989	94890989	1014	5	C	T	T	T	259	20	ARSK	2	2
AIM1	202	broad.mit.edu	37	6	106967275	106967275	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:106967275A>T	uc003prh.2	+	c.968A>T	c.(967-969)AAG>ATG	p.K323M		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	323							sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)						659				0.363636	44.785422	45.506299	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106967275	106967275	433	6	A	T	T	T	39	3	AIM1	3	3
LAMA4	3910	broad.mit.edu	37	6	112460430	112460430	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112460430G>T	uc003pvu.2	-	c.3174C>A	c.(3172-3174)GCC>GCA	p.A1058A	LAMA4_uc003pvv.2_Silent_p.A1051A|LAMA4_uc003pvt.2_Silent_p.A1051A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1058	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.362903	136.046968	138.095265	45	79	KEEP	---	---	---	---	capture		Silent	SNP	112460430	112460430	8931	6	G	T	T	T	496	39	LAMA4	1	1
ROS1	6098	broad.mit.edu	37	6	117647397	117647397	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117647397T>C	uc003pxp.1	-	c.5547A>G	c.(5545-5547)ATA>ATG	p.I1849M	ROS1_uc011ebi.1_Non-coding_Transcript|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1849	Fibronectin type-III 9.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(5)|central_nervous_system(3)|stomach(2)|large_intestine(1)|lung(1)	12		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)						1038				0.551724	111.007195	111.14254	32	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117647397	117647397	14010	6	T	C	C	C	628	49	ROS1	4	4
C6orf174	387104	broad.mit.edu	37	6	127797313	127797313	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127797313C>A	uc003qbd.2	-	c.1858G>T	c.(1858-1860)GAC>TAC	p.D620Y	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	620	Potential.					integral to membrane				breast(3)|ovary(2)	5				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)										0.384615	80.323131	81.236178	30	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127797313	127797313	2450	6	C	A	A	A	390	30	C6orf174	2	2
TAAR6	319100	broad.mit.edu	37	6	132891805	132891805	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132891805T>C	uc011eck.1	+	c.345T>C	c.(343-345)TTT>TTC	p.F115F		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	115	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)	2	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)										0.41989	253.976019	254.988263	76	105	KEEP	---	---	---	---	capture		Silent	SNP	132891805	132891805	16013	6	T	C	C	C	829	64	TAAR6	4	4
TAAR1	134864	broad.mit.edu	37	6	132967038	132967038	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132967038C>A	uc003qdm.1	-	c.105G>T	c.(103-105)CTG>CTT	p.L35L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	35	Helical; Name=1; (Potential).					integral to membrane|plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)									0.451883	317.658367	318.14182	108	131	KEEP	---	---	---	---	capture		Silent	SNP	132967038	132967038	16010	6	C	A	A	A	366	29	TAAR1	2	2
OR2B6	26212	broad.mit.edu	37	6	27925319	27925319	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27925319C>A	uc011dkx.1	+	c.301C>A	c.(301-303)CTT>ATT	p.L101I		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.263158	36.653498	39.511123	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27925319	27925319	11397	6	C	A	A	A	364	28	OR2B6	2	2
DAAM2	23500	broad.mit.edu	37	6	39851749	39851749	+	Silent	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39851749T>A	uc003oow.2	+	c.1857T>A	c.(1855-1857)CCT>CCA	p.P619P	DAAM2_uc003oox.2_Silent_p.P619P	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	619	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)													0.114286	5.374059	10.507716	4	31	KEEP	---	---	---	---	capture		Silent	SNP	39851749	39851749	4382	6	T	A	A	A	704	55	DAAM2	3	3
CNPY3	10695	broad.mit.edu	37	6	42906450	42906450	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42906450A>G	uc003ota.3	+	c.758A>G	c.(757-759)GAG>GGG	p.E253G	CNPY3_uc003osz.2_Missense_Mutation_p.E228G|CNPY3_uc003otc.3_Missense_Mutation_p.E128G|CNPY3_uc003otb.3_Missense_Mutation_p.E164G	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	253	Saposin B-type.				innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)											0.264706	22.857821	24.561009	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42906450	42906450	3767	6	A	G	G	G	143	11	CNPY3	4	4
PEX6	5190	broad.mit.edu	37	6	42934365	42934365	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42934365C>T	uc003otf.2	-	c.1992G>A	c.(1990-1992)GAG>GAA	p.E664E	PEX6_uc010jya.2_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	664					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)											0.266055	79.431102	84.81745	29	80	KEEP	---	---	---	---	capture		Silent	SNP	42934365	42934365	12172	6	C	T	T	T	311	24	PEX6	2	2
ABCC10	89845	broad.mit.edu	37	6	43413494	43413494	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43413494G>C	uc003ouy.1	+	c.3188G>C	c.(3187-3189)GGC>GCC	p.G1063A	ABCC10_uc003ouz.1_Missense_Mutation_p.G1035A|ABCC10_uc010jyo.1_Missense_Mutation_p.G169A	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1063	ABC transmembrane type-1 2.|Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(5)|central_nervous_system(1)	6	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)											0.112903	8.585492	17.750706	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43413494	43413494	51	6	G	C	C	C	546	42	ABCC10	3	3
PKHD1	5314	broad.mit.edu	37	6	51918001	51918001	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51918001G>T	uc003pah.1	-	c.2013C>A	c.(2011-2013)TTC>TTA	p.F671L	PKHD1_uc003pai.2_Missense_Mutation_p.F671L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	671	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.228571	38.360856	43.094804	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51918001	51918001	12396	6	G	T	T	T	477	37	PKHD1	1	1
COL9A1	1297	broad.mit.edu	37	6	70935644	70935644	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70935644C>T	uc003pfg.3	-	c.2572G>A	c.(2572-2574)GGT>AGT	p.G858S	COL9A1_uc003pfe.3_Missense_Mutation_p.G407S|COL9A1_uc003pff.3_Missense_Mutation_p.G615S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	858	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.0625	-5.125437	14.019891	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70935644	70935644	3845	6	C	T	T	T	312	24	COL9A1	2	2
DDX43	55510	broad.mit.edu	37	6	74104733	74104733	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74104733G>C	uc003pgw.2	+	c.105G>C	c.(103-105)TTG>TTC	p.L35F	OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	35						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(2)|upper_aerodigestive_tract(1)	3														0.296296	71.069084	74.074522	24	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74104733	74104733	4534	6	G	C	C	C	581	45	DDX43	3	3
SNX14	57231	broad.mit.edu	37	6	86259576	86259576	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86259576T>A	uc003pkr.2	-	c.656A>T	c.(655-657)CAG>CTG	p.Q219L	SNX14_uc003pkp.2_Missense_Mutation_p.Q82L|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.Q167L|SNX14_uc003pks.2_Missense_Mutation_p.Q175L|SNX14_uc003pkt.2_Missense_Mutation_p.Q219L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	219	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)										0.205479	35.782453	41.656759	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86259576	86259576	15385	6	T	A	A	A	715	55	SNX14	3	3
MANEA	79694	broad.mit.edu	37	6	96053765	96053765	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96053765C>A	uc003poo.1	+	c.873C>A	c.(871-873)CGC>CGA	p.R291R		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	291	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)										0.147059	25.364927	37.565816	15	87	KEEP	---	---	---	---	capture		Silent	SNP	96053765	96053765	9604	6	C	A	A	A	314	25	MANEA	2	2
AGFG2	3268	broad.mit.edu	37	7	100151876	100151876	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100151876T>C	uc003uvf.2	+	c.746T>C	c.(745-747)TTT>TCT	p.F249S	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L111L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	249					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1														0.227273	42.092364	46.595974	15	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100151876	100151876	384	7	T	C	C	C	832	64	AGFG2	4	4
SLC26A5	375611	broad.mit.edu	37	7	103048344	103048344	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103048344C>T	uc003vbz.2	-	c.842G>A	c.(841-843)AGA>AAA	p.R281K	SLC26A5_uc003vbt.1_Missense_Mutation_p.R281K|SLC26A5_uc003vbu.1_Missense_Mutation_p.R281K|SLC26A5_uc003vbv.1_Missense_Mutation_p.R281K|SLC26A5_uc003vbw.2_Non-coding_Transcript|SLC26A5_uc003vbx.2_Missense_Mutation_p.R281K|SLC26A5_uc003vby.2_Non-coding_Transcript|SLC26A5_uc010liy.2_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	281	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.135922	23.49708	36.705852	14	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103048344	103048344	15017	7	C	T	T	T	416	32	SLC26A5	2	2
RELN	5649	broad.mit.edu	37	7	103124140	103124140	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103124140C>A	uc003vca.2	-	c.10141G>T	c.(10141-10143)GAC>TAC	p.D3381Y	RELN_uc010liz.2_Missense_Mutation_p.D3381Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3381					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.116883	18.595166	40.784863	18	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103124140	103124140	13689	7	C	A	A	A	390	30	RELN	2	2
CDHR3	222256	broad.mit.edu	37	7	105660902	105660902	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:105660902G>C	uc003vdl.3	+	c.1737G>C	c.(1735-1737)CTG>CTC	p.L579L	CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Silent_p.L566L|CDHR3_uc011klt.1_Silent_p.L491L|CDHR3_uc003vdn.2_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	579	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.214765	88.819377	100.00827	32	117	KEEP	---	---	---	---	capture		Silent	SNP	105660902	105660902	3249	7	G	C	C	C	574	45	CDHR3	3	3
PIK3CG	5294	broad.mit.edu	37	7	106508152	106508152	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106508152G>T	uc003vdv.3	+	c.146G>T	c.(145-147)CGC>CTC	p.R49L	PIK3CG_uc003vdu.2_Missense_Mutation_p.R49L|PIK3CG_uc003vdw.2_Missense_Mutation_p.R49L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	49					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.157895	18.139682	24.499103	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106508152	106508152	12340	7	G	T	T	T	494	38	PIK3CG	1	1
C7orf60	154743	broad.mit.edu	37	7	112461933	112461933	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112461933C>G	uc011kms.1	-	c.1162G>C	c.(1162-1164)GAT>CAT	p.D388H	C7orf60_uc003vgo.1_Missense_Mutation_p.D362H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	362										ovary(2)	2														0.236842	24.655372	27.060522	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112461933	112461933	2514	7	C	G	G	G	416	32	C7orf60	3	3
FSCN3	29999	broad.mit.edu	37	7	127239453	127239453	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127239453G>T	uc003vmd.1	+	c.1139G>T	c.(1138-1140)GGG>GTG	p.G380V	FSCN3_uc011koh.1_Missense_Mutation_p.G246V|FSCN3_uc010llc.1_Missense_Mutation_p.G380V	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	380						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1														0.221239	116.22556	132.393143	50	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127239453	127239453	6319	7	G	T	T	T	559	43	FSCN3	2	2
DGKI	9162	broad.mit.edu	37	7	137150706	137150706	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137150706G>T	uc003vtt.2	-	c.2584C>A	c.(2584-2586)CCG>ACG	p.P862T	DGKI_uc003vtu.2_Missense_Mutation_p.P572T	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	862					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.23913	48.983077	54.724055	22	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137150706	137150706	4650	7	G	T	T	T	546	42	DGKI	2	2
DGKI	9162	broad.mit.edu	37	7	137330263	137330263	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137330263C>T	uc003vtt.2	-	c.759G>A	c.(757-759)TGG>TGA	p.W253*	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	253	Phorbol-ester/DAG-type 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.188679	22.017295	26.825237	10	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	137330263	137330263	4650	7	C	T	T	T	286	22	DGKI	5	2
KEL	3792	broad.mit.edu	37	7	142651423	142651423	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142651423C>A	uc003wcb.2	-	c.772G>T	c.(772-774)GGA>TGA	p.G258*		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	258	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.219048	54.408091	62.016186	23	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142651423	142651423	8448	7	C	A	A	A	286	22	KEL	5	2
CASP2	835	broad.mit.edu	37	7	142991376	142991376	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142991376A>G	uc003wco.2	+	c.529A>G	c.(529-531)AAG>GAG	p.K177E	CASP2_uc003wcp.2_Missense_Mutation_p.E104G|CASP2_uc011kta.1_Missense_Mutation_p.K61E|CASP2_uc003wcq.2_Non-coding_Transcript	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	177					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.246269	94.012748	101.863324	33	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142991376	142991376	2790	7	A	G	G	G	117	9	CASP2	4	4
TAS2R41	259287	broad.mit.edu	37	7	143175707	143175707	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143175707C>G	uc003wdc.1	+	c.742C>G	c.(742-744)CTG>GTG	p.L248V		NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	248	Helical; Name=6; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)	1	Melanoma(164;0.15)													0.35	155.028668	157.809821	49	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143175707	143175707	16101	7	C	G	G	G	415	32	TAS2R41	3	3
AGAP3	116988	broad.mit.edu	37	7	150814462	150814462	+	Silent	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150814462G>C	uc003wjg.1	+	c.483G>C	c.(481-483)GGG>GGC	p.G161G	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.G161G|AGAP3_uc010lpy.1_Silent_p.G161G|AGAP3_uc003wjh.1_Silent_p.G341G	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	125	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.192308	104.892711	125.55074	45	189	KEEP	---	---	---	---	capture		Silent	SNP	150814462	150814462	371	7	G	C	C	C	535	42	AGAP3	3	3
ITGB8	3696	broad.mit.edu	37	7	20449250	20449250	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20449250G>C	uc003suu.2	+	c.2036G>C	c.(2035-2037)AGC>ACC	p.S679T	ITGB8_uc011jyh.1_Missense_Mutation_p.S544T	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	679	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(2)	2										842				0.170455	34.57424	43.609329	15	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20449250	20449250	8205	7	G	C	C	C	442	34	ITGB8	3	3
ABCB5	340273	broad.mit.edu	37	7	20725459	20725459	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20725459G>T	uc010kuh.2	+	c.2010G>T	c.(2008-2010)GAG>GAT	p.E670D	ABCB5_uc003suw.3_Missense_Mutation_p.E225D	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	225	Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.247059	54.633673	59.58286	21	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20725459	20725459	45	7	G	T	T	T	451	35	ABCB5	2	2
STK31	56164	broad.mit.edu	37	7	23827750	23827750	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23827750T>A	uc003sws.3	+	c.2637_splice	c.e21+2	p.V879_splice	STK31_uc003swt.3_Splice_Site_SNP_p.V856_splice|STK31_uc011jze.1_Splice_Site_SNP_p.V879_splice|STK31_uc010kuq.2_Splice_Site_SNP_p.V856_splice|STK31_uc003swv.1_Splice_Site_SNP_p.V45_splice	NM_031414	NP_113602			serine/threonine kinase 31 isoform a						protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.411765	43.344652	43.575626	14	20	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	23827750	23827750	15816	7	T	A	A	A	741	57	STK31	5	3
ELMO1	9844	broad.mit.edu	37	7	36895172	36895172	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36895172A>G	uc003tfk.1	-	c.2168T>C	c.(2167-2169)GTC>GCC	p.V723A	ELMO1_uc003tfi.1_Missense_Mutation_p.V243A|ELMO1_uc003tfj.1_Missense_Mutation_p.V243A|ELMO1_uc011kbb.1_Non-coding_Transcript|ELMO1_uc011kbc.1_Missense_Mutation_p.V627A|ELMO1_uc010kxg.1_Missense_Mutation_p.V723A	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	723					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)	3														0.226087	137.92007	153.737234	52	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36895172	36895172	5257	7	A	G	G	G	130	10	ELMO1	4	4
INHBA	3624	broad.mit.edu	37	7	41729647	41729647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729647C>A	uc003thq.2	-	c.882G>T	c.(880-882)ATG>ATT	p.M294I	INHBA_uc003thr.2_Missense_Mutation_p.M294I	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	294					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.252525	63.32667	68.833384	25	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729647	41729647	8042	7	C	A	A	A	325	25	INHBA	2	2
TNS3	64759	broad.mit.edu	37	7	47385804	47385804	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47385804G>A	uc003tnv.2	-	c.2432C>T	c.(2431-2433)TCA>TTA	p.S811L	TNS3_uc003tnw.2_Missense_Mutation_p.S811L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	811						focal adhesion	protein binding			ovary(4)	4														0.157895	21.052915	29.533658	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47385804	47385804	16885	7	G	A	A	A	585	45	TNS3	2	2
HUS1	3364	broad.mit.edu	37	7	48016360	48016360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48016360C>A	uc003tod.1	-	c.432G>T	c.(430-432)AAG>AAT	p.K144N	HUS1_uc003toe.1_Missense_Mutation_p.K144N|HUS1_uc011kce.1_Non-coding_Transcript	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	144					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(1)|lung(1)|kidney(1)	3		Breast(660;0.00139)				Ovarian(103;466 1517 21788 34610 43890)								0.138889	30.500121	48.651528	20	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48016360	48016360	7759	7	C	A	A	A	311	24	HUS1	2	2
CCT6A	908	broad.mit.edu	37	7	56126388	56126388	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56126388A>G	uc003trl.1	+	c.961A>G	c.(961-963)ATG>GTG	p.M321V	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.M276V|CCT6A_uc011kcu.1_Missense_Mutation_p.M290V|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	321					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.231884	45.667306	50.207708	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56126388	56126388	3084	7	A	G	G	G	208	16	CCT6A	4	4
BAZ1B	9031	broad.mit.edu	37	7	72861596	72861596	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72861596C>A	uc003tyc.2	-	c.3842G>T	c.(3841-3843)CGA>CTA	p.R1281L		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1281	Potential.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|transcription regulator activity|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|breast(1)	5		Lung NSC(55;0.0659)|all_lung(88;0.152)				Esophageal Squamous(112;1167 1561 21085 43672 48228)								0.229665	121.849433	135.81264	48	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72861596	72861596	1351	7	C	A	A	A	403	31	BAZ1B	1	1
PTPN12	5782	broad.mit.edu	37	7	77256164	77256164	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77256164A>T	uc003ugh.2	+	c.1168A>T	c.(1168-1170)AAG>TAG	p.K390*	PTPN12_uc011kgp.1_Nonsense_Mutation_p.K271*|PTPN12_uc011kgq.1_Nonsense_Mutation_p.K260*|PTPN12_uc010lds.2_Nonsense_Mutation_p.K122*	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	390	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3														0.14	10.194021	16.449773	7	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77256164	77256164	13236	7	A	T	T	T	13	1	PTPN12	5	3
GRM3	2913	broad.mit.edu	37	7	86416430	86416430	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86416430C>T	uc003uid.2	+	c.1322C>T	c.(1321-1323)ACG>ATG	p.T441M	GRM3_uc010lef.2_Missense_Mutation_p.T439M|GRM3_uc010leg.2_Missense_Mutation_p.T313M|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	441	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				ovary(3)|central_nervous_system(2)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GBM(52;969 1098 3139 52280)								0.270833	104.471485	111.286182	39	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86416430	86416430	7077	7	C	T	T	T	247	19	GRM3	1	1
ADAM22	53616	broad.mit.edu	37	7	87816014	87816014	+	Silent	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87816014T>C	uc003ujm.2	+	c.2553T>C	c.(2551-2553)TTT>TTC	p.F851F	ADAM22_uc003ujn.2_Intron|ADAM22_uc003ujo.2_Intron	NM_021722	NP_068368	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 2	859	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)							704				0.313725	101.97107	105.116225	32	70	KEEP	---	---	---	---	capture		Silent	SNP	87816014	87816014	245	7	T	C	C	C	790	61	ADAM22	4	4
COL1A2	1278	broad.mit.edu	37	7	94040380	94040380	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94040380A>T	uc003ung.1	+	c.1264A>T	c.(1264-1266)AGT>TGT	p.S422C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	422					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.4	18.647819	18.778749	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94040380	94040380	3816	7	A	T	T	T	195	15	COL1A2	3	3
SLC25A13	10165	broad.mit.edu	37	7	95750584	95750584	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95750584C>A	uc003uog.3	-	c.1950G>T	c.(1948-1950)GGG>GGT	p.G650G	SLC25A13_uc003uof.3_Silent_p.G649G|SLC25A13_uc011kik.1_Silent_p.G541G	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 1	649					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)	3	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)									0.285714	62.063972	66.102061	28	70	KEEP	---	---	---	---	capture		Silent	SNP	95750584	95750584	14972	7	C	A	A	A	379	30	SLC25A13	2	2
TRRAP	8295	broad.mit.edu	37	7	98547352	98547352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98547352C>T	uc003upp.2	+	c.5002C>T	c.(5002-5004)CGA>TGA	p.R1668*	TRRAP_uc011kis.1_Nonsense_Mutation_p.R1650*|TRRAP_uc003upr.2_Nonsense_Mutation_p.R1367*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1668					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)						p.R1668*(DMS454-Tumor)	1847				0.278689	43.1067	45.759101	17	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	98547352	98547352	17152	7	C	T	T	T	347	27	TRRAP	5	1
TRRAP	8295	broad.mit.edu	37	7	98564703	98564703	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98564703A>C	uc003upp.2	+	c.7195A>C	c.(7195-7197)ATG>CTG	p.M2399L	TRRAP_uc011kis.1_Missense_Mutation_p.M2381L|TRRAP_uc003upr.2_Missense_Mutation_p.M2098L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2399					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.123288	14.328293	24.458328	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98564703	98564703	17152	7	A	C	C	C	156	12	TRRAP	4	4
AZGP1	563	broad.mit.edu	37	7	99569382	99569382	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99569382G>C	uc003ush.2	-	c.324C>G	c.(322-324)TAC>TAG	p.Y108*		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	108					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)													0.05	-7.769313	9.414653	4	76	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99569382	99569382	1260	7	G	C	C	C	620	48	AZGP1	5	3
PKHD1L1	93035	broad.mit.edu	37	8	110476711	110476711	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110476711C>T	uc003yne.2	+	c.7650C>T	c.(7648-7650)ACC>ACT	p.T2550T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2550	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)											0.439024	116.388591	116.654385	36	46	KEEP	---	---	---	---	capture		Silent	SNP	110476711	110476711	12397	8	C	T	T	T	262	21	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113871484	113871484	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113871484C>A	uc003ynu.2	-	c.1645G>T	c.(1645-1647)GGC>TGC	p.G549C	CSMD3_uc003ynt.2_Missense_Mutation_p.G509C|CSMD3_uc011lhx.1_Missense_Mutation_p.G445C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	549	Extracellular (Potential).|CUB 3.					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)			0.484375	98.020844	98.034519	31	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113871484	113871484	4087	8	C	A	A	A	273	21	CSMD3	2	2
SLC30A8	169026	broad.mit.edu	37	8	118147586	118147586	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:118147586C>T	uc003yoh.2	+	c.20C>T	c.(19-21)ACG>ATG	p.T7M	SLC30A8_uc010mcz.2_Intron|SLC30A8_uc011lia.1_De_novo_Start_InFrame|SLC30A8_uc003yog.2_De_novo_Start_InFrame	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	7	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion binding|zinc ion transmembrane transporter activity			ovary(2)|skin(1)	3	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			Ovarian(162;1202 1922 6011 16223 52092)								0.569444	515.904349	517.112565	164	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118147586	118147586	15058	8	C	T	T	T	247	19	SLC30A8	1	1
ADCY8	114	broad.mit.edu	37	8	132051816	132051816	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:132051816G>T	uc003ytd.3	-	c.764C>A	c.(763-765)ACC>AAC	p.T255N	ADCY8_uc010mds.2_Missense_Mutation_p.T255N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	255	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)											0.62	100.33361	100.964447	31	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132051816	132051816	301	8	G	T	T	T	572	44	ADCY8	2	2
TUSC3	7991	broad.mit.edu	37	8	15480671	15480671	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:15480671G>C	uc003wwt.2	+	c.221G>C	c.(220-222)CGA>CCA	p.R74P	TUSC3_uc003wwr.2_Missense_Mutation_p.R74P|TUSC3_uc003wws.2_Missense_Mutation_p.R74P|TUSC3_uc003wwu.2_Missense_Mutation_p.R74P|TUSC3_uc003wwv.2_Missense_Mutation_p.R74P|TUSC3_uc003www.2_Missense_Mutation_p.R74P|TUSC3_uc003wwx.2_Non-coding_Transcript|TUSC3_uc003wwy.2_Missense_Mutation_p.R74P	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	74					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)										0.272727	36.883392	38.929889	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15480671	15480671	17334	8	G	C	C	C	481	37	TUSC3	3	3
MYOM2	9172	broad.mit.edu	37	8	2046745	2046745	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2046745C>A	uc003wpx.3	+	c.2372C>A	c.(2371-2373)GCC>GAC	p.A791D	MYOM2_uc011kwi.1_Missense_Mutation_p.A216D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	791	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)										0.5625	27.976467	28.030883	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2046745	2046745	10487	8	C	A	A	A	338	26	MYOM2	2	2
ADAM28	10863	broad.mit.edu	37	8	24187507	24187507	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24187507G>T	uc003xdy.2	+	c.982G>T	c.(982-984)GAT>TAT	p.D328Y	ADAM28_uc003xdx.2_Missense_Mutation_p.D328Y|ADAM28_uc011kzz.1_Missense_Mutation_p.D95Y|ADAM28_uc011laa.1_Non-coding_Transcript|ADAM28_uc010lua.2_Missense_Mutation_p.D15Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28 isoform 1	328	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(2)|lung(1)|central_nervous_system(1)	4		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		NSCLC(193;488 2149 22258 34798 40734)				410				0.355072	148.238425	150.791481	49	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24187507	24187507	247	8	G	T	T	T	481	37	ADAM28	1	1
CSMD1	64478	broad.mit.edu	37	8	2857579	2857579	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2857579C>A	uc011kwk.1	-	c.8107G>T	c.(8107-8109)GTG>TTG	p.V2703L	CSMD1_uc011kwj.1_Missense_Mutation_p.V2032L|CSMD1_uc010lrg.2_Missense_Mutation_p.V713L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2703	Extracellular (Potential).|Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.408805	188.144835	189.299763	65	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2857579	2857579	4085	8	C	A	A	A	234	18	CSMD1	2	2
ADAM2	2515	broad.mit.edu	37	8	39626920	39626920	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39626920C>A	uc003xnj.2	-	c.1203G>T	c.(1201-1203)GGG>GGT	p.G401G	ADAM2_uc003xnk.2_Silent_p.G382G|ADAM2_uc011lck.1_Silent_p.G401G|ADAM2_uc003xnl.2_Silent_p.G275G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	401	Extracellular (Potential).|Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.333333	34.560289	35.520569	13	26	KEEP	---	---	---	---	capture		Silent	SNP	39626920	39626920	242	8	C	A	A	A	379	30	ADAM2	2	2
CA8	767	broad.mit.edu	37	8	61144930	61144930	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61144930C>T	uc003xtz.1	-	c.426G>A	c.(424-426)CTG>CTA	p.L142L	CA8_uc003xua.1_Silent_p.L142L	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	142					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)												0.351852	104.210311	106.304117	38	70	KEEP	---	---	---	---	capture		Silent	SNP	61144930	61144930	2639	8	C	T	T	T	366	29	CA8	2	2
CHD7	55636	broad.mit.edu	37	8	61750662	61750662	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61750662G>T	uc003xue.2	+	c.4381G>T	c.(4381-4383)GAG>TAG	p.E1461*		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1461	Helicase C-terminal.				central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)											0.25	17.311152	18.902213	7	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61750662	61750662	3464	8	G	T	T	T	429	33	CHD7	5	2
PDE7A	5150	broad.mit.edu	37	8	66631608	66631608	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:66631608T>C	uc003xvq.2	-	c.1366A>G	c.(1366-1368)AGA>GGA	p.R456G	MTFR1_uc003xvo.1_Intron|PDE7A_uc003xvp.2_Missense_Mutation_p.R430G	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	456						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)									0.418182	75.017502	75.338376	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66631608	66631608	12072	8	T	C	C	C	700	54	PDE7A	4	4
EYA1	2138	broad.mit.edu	37	8	72127698	72127698	+	Silent	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72127698T>G	uc003xys.3	-	c.1521A>C	c.(1519-1521)CCA>CCC	p.P507P	EYA1_uc003xyr.3_Silent_p.P472P|EYA1_uc003xyt.3_Silent_p.P474P|EYA1_uc010lzf.2_Silent_p.P434P|EYA1_uc003xyu.2_Silent_p.P507P|EYA1_uc011lfe.1_Silent_p.P501P|EYA1_uc003xyv.2_Silent_p.P385P	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	507					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.387097	72.170852	72.867877	24	38	KEEP	---	---	---	---	capture		Silent	SNP	72127698	72127698	5522	8	T	G	G	G	704	55	EYA1	4	4
FABP5	2171	broad.mit.edu	37	8	82195599	82195599	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82195599A>G	uc003yca.1	+	c.80_splice	c.e2-2	p.G27_splice		NM_001444	NP_001435			fatty acid binding protein 5						epidermis development	cytoplasm	fatty acid binding|protein binding|transporter activity				0	Lung NSC(7;3.57e-05)|all_lung(9;0.00011)		Epithelial(68;0.102)											0.102564	1.26782	7.415824	4	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	82195599	82195599	5557	8	A	G	G	G	91	7	FABP5	5	4
CLDN23	137075	broad.mit.edu	37	8	8560235	8560235	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:8560235C>A	uc003wsi.2	+	c.327C>A	c.(325-327)CCC>CCA	p.P109P		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	109	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)										0.538462	21.425234	21.441922	7	6	KEEP	---	---	---	---	capture		Silent	SNP	8560235	8560235	3620	8	C	A	A	A	262	21	CLDN23	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88886189	88886189	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88886189T>C	uc003ydz.2	-	c.11A>G	c.(10-12)AAA>AGA	p.K4R		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	4										ovary(1)	1														0.333333	32.940678	33.678357	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88886189	88886189	4443	8	T	C	C	C	832	64	DCAF4L2	4	4
ESRP1	54845	broad.mit.edu	37	8	95686684	95686684	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95686684G>T	uc003ygq.3	+	c.1601G>T	c.(1600-1602)GGG>GTG	p.G534V	ESRP1_uc003ygr.3_Missense_Mutation_p.G534V|ESRP1_uc003ygs.3_Missense_Mutation_p.G534V|ESRP1_uc003ygt.3_Missense_Mutation_p.G534V|ESRP1_uc003ygu.3_Missense_Mutation_p.G534V|ESRP1_uc003ygv.2_Missense_Mutation_p.G374V|ESRP1_uc003ygw.2_Missense_Mutation_p.G374V	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	534					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4														0.382353	36.865752	37.278763	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95686684	95686684	5451	8	G	T	T	T	559	43	ESRP1	2	2
ZNF462	58499	broad.mit.edu	37	9	109690045	109690045	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109690045C>T	uc004bcz.2	+	c.3852C>T	c.(3850-3852)ATC>ATT	p.I1284I	ZNF462_uc010mto.2_Silent_p.I1132I|ZNF462_uc004bda.2_Silent_p.I1132I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1284	C2H2-type 11.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.439766	1112.932776	1115.643376	376	479	KEEP	---	---	---	---	capture		Silent	SNP	109690045	109690045	18519	9	C	T	T	T	369	29	ZNF462	2	2
SVEP1	79987	broad.mit.edu	37	9	113231319	113231319	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113231319C>A	uc010mtz.2	-	c.3061G>T	c.(3061-3063)GGA>TGA	p.G1021*	SVEP1_uc010mua.1_Nonsense_Mutation_p.G1021*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1021					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.162791	28.108663	37.392479	14	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113231319	113231319	15940	9	C	A	A	A	299	23	SVEP1	5	1
OR1N1	138883	broad.mit.edu	37	9	125289495	125289495	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125289495G>A	uc004bmn.1	-	c.78C>T	c.(76-78)TTC>TTT	p.F26F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1														0.063063	-6.865429	15.2033	7	104	KEEP	---	---	---	---	capture		Silent	SNP	125289495	125289495	11375	9	G	A	A	A	477	37	OR1N1	1	1
C9orf150	286343	broad.mit.edu	37	9	12775758	12775758	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:12775758A>T	uc003zkw.2	+	c.44A>T	c.(43-45)AAG>ATG	p.K15M		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	15											0				GBM - Glioblastoma multiforme(1;1.64e-13)										0.421053	23.496337	23.599773	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12775758	12775758	2576	9	A	T	T	T	39	3	C9orf150	3	3
CACNA1B	774	broad.mit.edu	37	9	140852090	140852090	+	Silent	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140852090G>A	uc004cog.2	+	c.1284G>A	c.(1282-1284)CTG>CTA	p.L428L	CACNA1B_uc011mfd.1_5'UTR	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	428	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)									0.541667	39.475122	39.511234	13	11	KEEP	---	---	---	---	capture		Silent	SNP	140852090	140852090	2655	9	G	A	A	A	574	45	CACNA1B	2	2
CACNA1B	774	broad.mit.edu	37	9	140865867	140865867	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140865867G>A	uc004cog.2	+	c.1366G>A	c.(1366-1368)GGG>AGG	p.G456R	CACNA1B_uc011mfd.1_5'UTR	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	456	Cytoplasmic (Potential).|ATP (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)									0.466667	22.32581	22.340069	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140865867	140865867	2655	9	G	A	A	A	507	39	CACNA1B	1	1
SPAG8	26206	broad.mit.edu	37	9	35811203	35811203	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35811203G>C	uc003zye.2	-	c.840C>G	c.(838-840)TGC>TGG	p.C280W	SPAG8_uc003zyf.2_Missense_Mutation_p.C197W|SPAG8_uc003zyg.2_Missense_Mutation_p.C280W	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	280						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)							7				0.076087	-0.705755	16.200091	7	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35811203	35811203	15487	9	G	C	C	C	542	42	SPAG8	3	3
UHRF2	115426	broad.mit.edu	37	9	6433943	6433943	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6433943C>T	uc003zjy.2	+	c.414C>T	c.(412-414)GTC>GTT	p.V138V	UHRF2_uc003zjz.2_Non-coding_Transcript|UHRF2_uc003zka.1_5'UTR	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	138					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)										0.352941	34.300554	34.944105	12	22	KEEP	---	---	---	---	capture		Silent	SNP	6433943	6433943	17528	9	C	T	T	T	392	31	UHRF2	1	1
PGM5	5239	broad.mit.edu	37	9	71006455	71006456	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71006455_71006456GG>AT	uc004agr.2	+	c.703_704GG>AT	c.(703-705)GGA>ATA	p.G235I		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	235					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														0.243902	25.029814	27.480208	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71006455	71006456	12224	9	GG	AT	AT	AT	559	43	PGM5	2	2
PRUNE2	158471	broad.mit.edu	37	9	79323715	79323715	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79323715C>A	uc010mpk.2	-	c.3475G>T	c.(3475-3477)GAA>TAA	p.E1159*		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1159					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.261905	52.406408	56.719796	22	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79323715	79323715	13092	9	C	A	A	A	377	29	PRUNE2	5	2
PTPRD	5789	broad.mit.edu	37	9	8500764	8500764	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8500764G>T	uc003zkk.2	-	c.2118C>A	c.(2116-2118)ACC>ACA	p.T706T	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.T706T|PTPRD_uc003zkm.2_Silent_p.T693T|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	706	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.365217	124.416241	126.25494	42	73	KEEP	---	---	---	---	capture		Silent	SNP	8500764	8500764	13256	9	G	T	T	T	600	47	PTPRD	2	2
KIF27	55582	broad.mit.edu	37	9	86498781	86498781	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86498781T>G	uc004ana.2	-	c.2392A>C	c.(2392-2394)AAA>CAA	p.K798Q	KIF27_uc010mpw.2_Missense_Mutation_p.K798Q|KIF27_uc010mpx.2_Missense_Mutation_p.K798Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	798	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.068182	-0.609606	7.876169	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86498781	86498781	8607	9	T	G	G	G	832	64	KIF27	4	4
C9orf79	286234	broad.mit.edu	37	9	90500350	90500350	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90500350G>T	uc004app.3	+	c.948G>T	c.(946-948)TGG>TGT	p.W316C	C9orf79_uc004apo.1_Missense_Mutation_p.W128C	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	316						integral to membrane				ovary(3)	3														0.215686	25.294868	29.101664	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90500350	90500350	2613	9	G	T	T	T	559	43	C9orf79	2	2
C9orf79	286234	broad.mit.edu	37	9	90501374	90501374	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90501374G>T	uc004app.3	+	c.1972G>T	c.(1972-1974)GGG>TGG	p.G658W	C9orf79_uc004apo.1_Missense_Mutation_p.G470W	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	658						integral to membrane				ovary(3)	3														0.150943	13.275792	19.457727	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90501374	90501374	2613	9	G	T	T	T	611	47	C9orf79	2	2
CDK20	23552	broad.mit.edu	37	9	90588911	90588911	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90588911G>T	uc004apr.2	-	c.115C>A	c.(115-117)CGG>AGG	p.R39R	CDK20_uc004aps.2_Silent_p.R39R|CDK20_uc004apt.2_Silent_p.R52R|CDK20_uc004apu.2_Silent_p.R39R	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	39	Protein kinase.				cell division|multicellular organismal development|protein phosphorylation	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity				0										143				0.061728	-6.188396	10.04471	5	76	KEEP	---	---	---	---	capture		Silent	SNP	90588911	90588911	3266	9	G	T	T	T	493	38	CDK20	1	1
XKRX	402415	broad.mit.edu	37	X	100169469	100169469	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100169469T>C	uc004egn.2	-	c.1208A>G	c.(1207-1209)CAG>CGG	p.Q403R	XKRX_uc011mre.1_Missense_Mutation_p.Q199R	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	403						integral to membrane|plasma membrane				breast(1)	1														0.247863	72.616139	79.385739	29	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100169469	100169469	18020	23	T	C	C	C	715	55	XKRX	4	4
ARMCX5	64860	broad.mit.edu	37	X	101858564	101858564	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101858564G>T	uc004ejg.2	+	c.1495G>T	c.(1495-1497)GAG>TAG	p.E499*	ARMCX5_uc004ejh.2_Nonsense_Mutation_p.E499*	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	499	ARM 3.						binding			ovary(1)	1														0.472222	48.969352	48.993701	17	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101858564	101858564	980	23	G	T	T	T	585	45	ARMCX5	5	2
BEX2	84707	broad.mit.edu	37	X	102564634	102564634	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102564634C>A	uc004eka.2	-	c.358G>T	c.(358-360)GAG>TAG	p.E120*	BEX2_uc004ekb.2_Nonsense_Mutation_p.E91*	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	91					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1														0.487179	163.562755	163.57953	57	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102564634	102564634	1435	23	C	A	A	A	390	30	BEX2	5	2
NRK	203447	broad.mit.edu	37	X	105168748	105168748	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105168748G>C	uc004emd.2	+	c.3037G>C	c.(3037-3039)GAG>CAG	p.E1013Q	NRK_uc010npc.1_Missense_Mutation_p.E681Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1013					protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.18	19.94496	24.760071	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105168748	105168748	11060	23	G	C	C	C	429	33	NRK	3	3
CHRDL1	91851	broad.mit.edu	37	X	109937401	109937401	+	Silent	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109937401C>T	uc004eou.3	-	c.768G>A	c.(766-768)AAG>AAA	p.K256K	CHRDL1_uc004eov.2_Silent_p.K250K|CHRDL1_uc004eow.2_Silent_p.K255K|CHRDL1_uc010nps.2_Silent_p.K255K|CHRDL1_uc004eot.2_Silent_p.K176K|CHRDL1_uc011mss.1_Silent_p.K170K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	249					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0														0.471154	150.86144	150.937171	49	55	KEEP	---	---	---	---	capture		Silent	SNP	109937401	109937401	3507	23	C	T	T	T	363	28	CHRDL1	2	2
TRPC5	7224	broad.mit.edu	37	X	111155676	111155676	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111155676C>A	uc004epl.1	-	c.743G>T	c.(742-744)TGC>TTC	p.C248F	TRPC5_uc004epm.1_Missense_Mutation_p.C248F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	248	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.559748	279.681241	280.174425	89	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111155676	111155676	17133	23	C	A	A	A	325	25	TRPC5	2	2
WDR44	54521	broad.mit.edu	37	X	117540866	117540866	+	Silent	SNP	A	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117540866A>C	uc004eqn.2	+	c.1410A>C	c.(1408-1410)TCA>TCC	p.S470S	WDR44_uc004eqo.2_Silent_p.S470S|WDR44_uc011mtr.1_Silent_p.S445S|WDR44_uc010nqi.2_Silent_p.S180S	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	470						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|ovary(1)|pancreas(1)	4														0.246575	50.316359	54.582215	18	55	KEEP	---	---	---	---	capture		Silent	SNP	117540866	117540866	17869	23	A	C	C	C	93	8	WDR44	4	4
ODZ1	10178	broad.mit.edu	37	X	123556172	123556172	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123556172G>A	uc010nqy.2	-	c.4421C>T	c.(4420-4422)GCC>GTC	p.A1474V	ODZ1_uc011muj.1_Missense_Mutation_p.A1473V|ODZ1_uc004euj.2_Missense_Mutation_p.A1467V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1467	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.526316	92.283703	92.321527	30	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123556172	123556172	11239	23	G	A	A	A	546	42	ODZ1	2	2
ACTRT1	139741	broad.mit.edu	37	X	127186048	127186048	+	Silent	SNP	C	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:127186048C>A	uc004eum.2	-	c.138G>T	c.(136-138)GTG>GTT	p.V46V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	46						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.564356	179.574406	179.937403	57	44	KEEP	---	---	---	---	capture		Silent	SNP	127186048	127186048	219	23	C	A	A	A	314	25	ACTRT1	2	2
MAGEC1	9947	broad.mit.edu	37	X	140993845	140993845	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140993845G>A	uc004fbt.2	+	c.655G>A	c.(655-657)GAG>AAG	p.E219K	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	219							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.134454	21.814505	37.239913	16	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140993845	140993845	9561	23	G	A	A	A	585	45	MAGEC1	2	2
MAGEC1	9947	broad.mit.edu	37	X	140996477	140996477	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140996477C>T	uc004fbt.2	+	c.3287C>T	c.(3286-3288)CCT>CTT	p.P1096L	MAGEC1_uc010nsl.1_Missense_Mutation_p.P163L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1096	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.450549	134.56762	134.761015	41	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140996477	140996477	9561	23	C	T	T	T	312	24	MAGEC1	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291284	141291284	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:141291284C>T	uc004fbu.1	-	c.490G>A	c.(490-492)GAG>AAG	p.E164K		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	164	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.567568	695.840571	697.304583	210	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141291284	141291284	9562	23	C	T	T	T	416	32	MAGEC2	2	2
BRCC3	79184	broad.mit.edu	37	X	154348415	154348415	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154348415C>G	uc004fna.2	+	c.941C>G	c.(940-942)TCT>TGT	p.S314C	BRCC3_uc004fnb.2_Missense_Mutation_p.S289C	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	314					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|large_intestine(1)|ovary(1)	5	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)									82				0.254438	122.540405	131.791755	43	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154348415	154348415	1531	23	C	G	G	G	416	32	BRCC3	3	3
SYTL5	94122	broad.mit.edu	37	X	37913577	37913577	+	Silent	SNP	G	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37913577G>T	uc004ddx.2	+	c.231G>T	c.(229-231)CGG>CGT	p.R77R	SYTL5_uc004ddu.2_Silent_p.R77R|SYTL5_uc004ddv.2_Silent_p.R77R	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 2	77	FYVE-type.|RabBD.				intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.326087	41.514073	42.745849	15	31	KEEP	---	---	---	---	capture		Silent	SNP	37913577	37913577	16007	23	G	T	T	T	548	43	SYTL5	2	2
USP9X	8239	broad.mit.edu	37	X	41075524	41075524	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41075524G>A	uc004dfb.2	+	c.5704G>A	c.(5704-5706)GAT>AAT	p.D1902N	USP9X_uc004dfc.2_Missense_Mutation_p.D1902N	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1902					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.396226	55.853535	56.35564	21	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41075524	41075524	17654	23	G	A	A	A	585	45	USP9X	2	2
FAM123B	139285	broad.mit.edu	37	X	63412181	63412182	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63412181_63412182CC>AA	uc004dvo.2	-	c.985_986GG>TT	c.(985-987)GGT>TTT	p.G329F		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	329					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.297297	121.750307	127.18283	44	104	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	63412181	63412182	5620	23	CC	AA	AA	AA	234	18	FAM123B	2	2
KAL1	3730	broad.mit.edu	37	X	8503728	8503728	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:8503728C>T	uc004csf.2	-	c.1746G>A	c.(1744-1746)ATG>ATA	p.M582I		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	582	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	cell surface|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4														0.272727	21.756853	23.296055	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8503728	8503728	8278	23	C	T	T	T	377	29	KAL1	2	2
LSP1	4046	broad.mit.edu	37	11	1902785	1902786	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1902785_1902786insC	uc001luj.2	+	c.699_700insC	c.(697-702)GAGCCCfs	p.E233fs	LSP1_uc001lui.2_Frame_Shift_Ins_p.E105fs|LSP1_uc001luk.2_Frame_Shift_Ins_p.E43fs|LSP1_uc001lul.2_Frame_Shift_Ins_p.E43fs|LSP1_uc001lum.2_Frame_Shift_Ins_p.E43fs	NM_001013255	NP_001013273	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 2	105_106					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)						91				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	1902785	1902786	9439	11	-	C	C	C	438	34	LSP1	5	5
DDHD1	80821	broad.mit.edu	37	14	53619421	53619422	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:53619421_53619422insC	uc001xai.2	-	c.395_396insG	c.(394-396)GGCfs	p.G132fs	DDHD1_uc001xaj.2_Frame_Shift_Ins_p.G132fs|DDHD1_uc001xah.2_Frame_Shift_Ins_p.G132fs	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	132					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(1)	1	Breast(41;0.037)													0.33			3	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	53619421	53619422	4497	14	-	C	C	C	483	38	DDHD1	5	5
PRR14	78994	broad.mit.edu	37	16	30665950	30665950	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30665950_30665950delC	uc002dyy.2	+	c.659_659delC	c.(658-660)GCCfs	p.A220fs	PRR14_uc002dyz.2_Frame_Shift_Del_p.A65fs|PRR14_uc002dza.2_Frame_Shift_Del_p.A220fs|PRR14_uc002dzb.1_Frame_Shift_Del_p.A34fs	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	220	Pro-rich.										0			Colorectal(24;0.103)											0.44			7	9		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	30665950	30665950	13029	16	C	-	-	-	338	26	PRR14	5	5
C16orf7	9605	broad.mit.edu	37	16	89775655	89775656	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89775655_89775656insG	uc002fom.1	-	c.1576_1577insC	c.(1576-1578)CAGfs	p.Q526fs	C16orf7_uc002fol.1_Frame_Shift_Ins_p.Q456fs	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	526	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	89775655	89775656	1881	16	-	G	G	G	715	55	C16orf7	5	5
ZADH2	284273	broad.mit.edu	37	18	72913517	72913517	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72913517_72913517delA	uc002llx.2	-	c.988_988delT	c.(988-990)TGTfs	p.C330fs	ZADH2_uc010dqv.2_Frame_Shift_Del_p.C207fs	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	330					oxidation-reduction process	peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)										0.35			23	42		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	72913517	72913517	18094	18	A	-	-	-	65	5	ZADH2	5	5
ZIC1	7545	broad.mit.edu	37	3	147128838	147128839	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147128838_147128839delCG	uc003ewe.2	+	c.939_940delCG	c.(937-942)TTCGCGfs	p.F313fs		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	313_314	C2H2-type 3.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.39			86	137		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	147128838	147128839	18269	3	CG	-	-	-	402	31	ZIC1	5	5
RSPH10B2	728194	broad.mit.edu	37	7	6825592	6825595	+	Frame_Shift_Del	DEL	ATAA	-	-			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6825592_6825595delATAA	uc003sqw.1	+	c.1771_1774delATAA	c.(1771-1776)ATAAATfs	p.I591fs	RSPH10B2_uc010ktk.1_Frame_Shift_Del_p.I591fs|RSPH10B2_uc011jxc.1_Frame_Shift_Del_p.I292fs|RSPH10B2_uc010ktl.1_Non-coding_Transcript	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	591_592										ovary(1)|pancreas(1)	2														0.36			4	7		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	6825592	6825595	14184	7	ATAA	-	-	-	156	12	RSPH10B2	5	5
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z023-01	TCGA-17-Z023-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153688564_153688565insG	uc004flm.2	+	c.41_42insG	c.(40-42)GTGfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.36			5	9		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	153688564	153688565	12547	23	-	G	G	G	767	59	PLXNA3	5	5
