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
LZTS2	84445	broad.mit.edu	37	10	102763856	102763856	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102763856G>A	uc001ksj.2	+	c.1001G>A	c.(1000-1002)CGA>CAA	p.R334Q	LZTS2_uc010qpw.1_Missense_Mutation_p.R334Q|LZTS2_uc001ksk.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksl.2_Missense_Mutation_p.R334Q|LZTS2_uc001ksm.2_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	334	Potential.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		Esophageal Squamous(8;38 437 13604 19902 37640)								0.185185	31.175824	38.703916	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102763856	102763856	9516	10	G	A	A	A	481	37	LZTS2	1	1
LDB1	8861	broad.mit.edu	37	10	103870845	103870845	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103870845C>A	uc009xwz.2	-	c.230G>T	c.(229-231)CGG>CTG	p.R77L	LDB1_uc001kuk.3_Missense_Mutation_p.R41L|LDB1_uc001kul.3_Missense_Mutation_p.R41L	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	77					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of hemoglobin biosynthetic process|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity|transcription elongation regulator activity|transcription repressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)										0.208333	23.532359	27.307858	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103870845	103870845	9019	10	C	A	A	A	299	23	LDB1	1	1
ADRA2A	150	broad.mit.edu	37	10	112838147	112838147	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112838147C>G	uc001kzo.2	+	c.393C>G	c.(391-393)TTC>TTG	p.F131L		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	116	Helical; Name=3; (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of calcium ion-dependent exocytosis|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	Esophageal Squamous(173;605 2658 7278 49362)								0.222222	21.77998	24.335677	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112838147	112838147	338	10	C	G	G	G	415	32	ADRA2A	3	3
USP6NL	9712	broad.mit.edu	37	10	11505373	11505373	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11505373G>T	uc001iks.1	-	c.1605C>A	c.(1603-1605)ACC>ACA	p.T535T	USP6NL_uc001ikt.3_Silent_p.T518T	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 2	518						intracellular	Rab GTPase activator activity				0														0.485294	204.446429	204.471825	66	70	KEEP	---	---	---	---	capture		Silent	SNP	11505373	11505373	17651	10	G	T	T	T	496	39	USP6NL	1	1
PDZD8	118987	broad.mit.edu	37	10	119043108	119043108	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119043108C>T	uc001lde.1	-	c.3136G>A	c.(3136-3138)GAA>AAA	p.E1046K		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1046	Potential.				intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)										0.213333	34.760916	40.454266	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119043108	119043108	12126	10	C	T	T	T	377	29	PDZD8	2	2
PPAPDC1A	196051	broad.mit.edu	37	10	122263423	122263423	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:122263423T>A	uc001lev.1	+	c.150T>A	c.(148-150)CCT>CCA	p.P50P	PPAPDC1A_uc010qtd.1_Silent_p.P50P|PPAPDC1A_uc009xzl.1_Silent_p.P50P|PPAPDC1A_uc001lew.1_Silent_p.P50P|PPAPDC1A_uc001lex.1_Silent_p.P50P|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	50	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)										0.258621	32.864199	35.962432	15	43	KEEP	---	---	---	---	capture		Silent	SNP	122263423	122263423	12723	10	T	A	A	A	678	53	PPAPDC1A	3	3
DMBT1	1755	broad.mit.edu	37	10	124377590	124377590	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124377590G>T	uc001lgk.1	+	c.4562G>T	c.(4561-4563)CGA>CTA	p.R1521L	DMBT1_uc001lgl.1_Missense_Mutation_p.R1511L|DMBT1_uc001lgm.1_Missense_Mutation_p.R893L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1521L|DMBT1_uc010qtx.1_Missense_Mutation_p.R372L|DMBT1_uc009yab.1_Missense_Mutation_p.R224L|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1521	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.175115	158.643171	201.842209	76	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124377590	124377590	4757	10	G	T	T	T	481	37	DMBT1	1	1
MKI67	4288	broad.mit.edu	37	10	129903116	129903116	+	Nonsense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:129903116T>A	uc001lke.2	-	c.6988A>T	c.(6988-6990)AAG>TAG	p.K2330*	MKI67_uc001lkf.2_Nonsense_Mutation_p.K1970*|MKI67_uc009yav.1_Nonsense_Mutation_p.K1905*|MKI67_uc009yaw.1_Nonsense_Mutation_p.K1480*	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2330	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(1)	5		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)												0.286076	308.056408	324.319246	113	282	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129903116	129903116	9988	10	T	A	A	A	819	63	MKI67	5	3
FRMD4A	55691	broad.mit.edu	37	10	13702486	13702486	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13702486T>A	uc001ims.2	-	c.1728A>T	c.(1726-1728)CCA>CCT	p.P576P	FRMD4A_uc009xjf.1_Silent_p.P576P	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	576						cytoplasm|cytoskeleton	binding			ovary(1)|pancreas(1)	2												OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.447368	107.836672	108.020296	34	42	KEEP	---	---	---	---	capture		Silent	SNP	13702486	13702486	6301	10	T	A	A	A	756	59	FRMD4A	3	3
FAM107B	83641	broad.mit.edu	37	10	14563219	14563219	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14563219G>C	uc001ina.1	-	c.891C>G	c.(889-891)GGC>GGG	p.G297G	FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Silent_p.G122G|FAM107B_uc009xjg.1_Silent_p.G122G|FAM107B_uc001imy.1_Silent_p.G122G|FAM107B_uc001imz.1_Silent_p.G122G	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	122										breast(4)	4														0.369748	153.270212	155.044289	44	75	KEEP	---	---	---	---	capture		Silent	SNP	14563219	14563219	5587	10	G	C	C	C	535	42	FAM107B	3	3
SUV39H2	79723	broad.mit.edu	37	10	14939210	14939210	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14939210C>T	uc001inh.2	+	c.363C>T	c.(361-363)ATC>ATT	p.I121I	SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.I121I|SUV39H2_uc001inj.2_Silent_p.I121I	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	181					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3														0.173913	22.152965	29.083063	12	57	KEEP	---	---	---	---	capture		Silent	SNP	14939210	14939210	15933	10	C	T	T	T	369	29	SUV39H2	2	2
OLAH	55301	broad.mit.edu	37	10	15103747	15103747	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15103747G>T	uc001int.2	+	c.347G>T	c.(346-348)AGA>ATA	p.R116I	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.R63I	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase isoform 1	63					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity				0														0.432432	46.792472	46.940127	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15103747	15103747	11256	10	G	T	T	T	429	33	OLAH	2	2
C10orf111	221060	broad.mit.edu	37	10	15138469	15138469	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15138469G>A	uc001inw.2	-	c.355C>T	c.(355-357)CTT>TTT	p.L119F	RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	NM_153244	NP_694976	Q8N326	CJ111_HUMAN	hypothetical protein LOC221060	119	Helical; (Potential).					integral to membrane					0														0.45098	72.018583	72.125356	23	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15138469	15138469	1618	10	G	A	A	A	455	35	C10orf111	2	2
ITGA8	8516	broad.mit.edu	37	10	15760843	15760843	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:15760843C>T	uc001ioc.1	-	c.265G>A	c.(265-267)GAA>AAA	p.E89K	ITGA8_uc010qcb.1_Missense_Mutation_p.E89K	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	89	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6														0.177966	42.897795	54.424479	21	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15760843	15760843	8186	10	C	T	T	T	390	30	ITGA8	2	2
GPR158	57512	broad.mit.edu	37	10	25861687	25861687	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25861687A>C	uc001isj.2	+	c.1624A>C	c.(1624-1626)ATT>CTT	p.I542L		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	542	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.333333	46.038498	47.070475	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25861687	25861687	6938	10	A	C	C	C	104	8	GPR158	4	4
GPR158	57512	broad.mit.edu	37	10	25887236	25887236	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887236C>A	uc001isj.2	+	c.2681C>A	c.(2680-2682)CCA>CAA	p.P894Q	GPR158_uc001isk.2_Missense_Mutation_p.P269Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	894	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.19	38.660582	47.652455	19	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25887236	25887236	6938	10	C	A	A	A	273	21	GPR158	2	2
LYZL2	119180	broad.mit.edu	37	10	30918542	30918542	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30918542G>T	uc001ivk.2	-	c.93C>A	c.(91-93)GGC>GGA	p.G31G		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)												0.275	26.093976	27.928547	11	29	KEEP	---	---	---	---	capture		Silent	SNP	30918542	30918542	9509	10	G	T	T	T	587	46	LYZL2	2	2
ARHGAP12	94134	broad.mit.edu	37	10	32103262	32103262	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32103262C>A	uc001ivz.1	-	c.1759G>T	c.(1759-1761)GAG>TAG	p.E587*	ARHGAP12_uc001ivy.1_Nonsense_Mutation_p.E533*|ARHGAP12_uc009xls.2_Nonsense_Mutation_p.E538*|ARHGAP12_uc001iwb.1_Nonsense_Mutation_p.E580*|ARHGAP12_uc001iwc.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlq.1_Nonsense_Mutation_p.E508*|ARHGAP12_uc001iwd.1_Nonsense_Mutation_p.E555*|ARHGAP12_uc009xlr.1_Nonsense_Mutation_p.E585*	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	587					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)												0.310345	73.088831	75.87858	27	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32103262	32103262	876	10	C	A	A	A	416	32	ARHGAP12	5	2
KLF6	1316	broad.mit.edu	37	10	3822343	3822343	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:3822343C>G	uc001iha.2	-	c.755G>C	c.(754-756)CGA>CCA	p.R252P	KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_Non-coding_Transcript|KLF6_uc010qal.1_Missense_Mutation_p.R210P	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	252	C2H2-type 2.				B cell differentiation	nucleus	transcription activator activity|zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)						257				0.233333	21.009777	22.962042	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3822343	3822343	8662	10	C	G	G	G	403	31	KLF6	3	3
GDF10	2662	broad.mit.edu	37	10	48428803	48428803	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48428803C>T	uc001jfb.2	-	c.1083G>A	c.(1081-1083)ACG>ACA	p.T361T	GDF10_uc009xnp.2_Silent_p.T360T|GDF10_uc009xnq.1_Silent_p.T361T	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	361					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2														0.224138	29.949739	34.003195	13	45	KEEP	---	---	---	---	capture		Silent	SNP	48428803	48428803	6579	10	C	T	T	T	392	31	GDF10	1	1
BICC1	80114	broad.mit.edu	37	10	60566883	60566883	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60566883G>T	uc001jki.1	+	c.2341G>T	c.(2341-2343)GTG>TTG	p.V781L	BICC1_uc001jkj.1_Missense_Mutation_p.V422L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	781					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.303371	79.188853	82.261177	27	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60566883	60566883	1452	10	G	T	T	T	624	48	BICC1	2	2
FAM13C	220965	broad.mit.edu	37	10	61028318	61028318	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61028318A>G	uc010qif.1	-	c.1003T>C	c.(1003-1005)TAC>CAC	p.Y335H	FAM13C_uc001jkn.2_Missense_Mutation_p.Y313H|FAM13C_uc001jko.2_Missense_Mutation_p.Y313H|FAM13C_uc010qid.1_Missense_Mutation_p.Y230H|FAM13C_uc010qie.1_Missense_Mutation_p.Y230H|FAM13C_uc001jkp.2_Missense_Mutation_p.Y230H	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	313										ovary(1)	1														0.395349	54.576645	54.98505	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61028318	61028318	5651	10	A	G	G	G	208	16	FAM13C	4	4
CCDC6	8030	broad.mit.edu	37	10	61554281	61554281	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61554281T>A	uc001jks.3	-	c.1180A>T	c.(1180-1182)AAT>TAT	p.N394Y		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	394						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)	3				Kidney(211;0.0597)						179				0.42	64.567085	64.846173	21	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61554281	61554281	2953	10	T	A	A	A	819	63	CCDC6	3	3
REEP3	221035	broad.mit.edu	37	10	65357812	65357812	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:65357812G>A	uc001jmt.2	+	c.211G>A	c.(211-213)GCT>ACT	p.A71T	REEP3_uc009xpl.1_Missense_Mutation_p.A71T	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	71	Helical; (Potential).					integral to membrane					0	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.294118	37.801285	39.738194	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65357812	65357812	13675	10	G	A	A	A	598	46	REEP3	2	2
CTNNA3	29119	broad.mit.edu	37	10	67829219	67829219	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:67829219T>A	uc009xpn.1	-	c.2006A>T	c.(2005-2007)GAA>GTA	p.E669V	CTNNA3_uc001jmw.2_Missense_Mutation_p.E669V	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	669					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	5														0.236842	20.354543	22.760891	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67829219	67829219	4173	10	T	A	A	A	806	62	CTNNA3	3	3
TET1	80312	broad.mit.edu	37	10	70406705	70406705	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70406705A>G	uc001jok.3	+	c.4219A>G	c.(4219-4221)ACA>GCA	p.T1407A		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1407					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5										280				0.219512	26.55629	29.524397	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70406705	70406705	16296	10	A	G	G	G	182	14	TET1	4	4
KIAA1274	27143	broad.mit.edu	37	10	72292391	72292391	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72292391C>A	uc001jrd.3	+	c.648C>A	c.(646-648)GCC>GCA	p.A216A		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	216										ovary(2)|central_nervous_system(1)	3														0.162602	36.220351	49.532877	20	103	KEEP	---	---	---	---	capture		Silent	SNP	72292391	72292391	8529	10	C	A	A	A	275	22	KIAA1274	2	2
C10orf27	219793	broad.mit.edu	37	10	72541683	72541683	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72541683G>T	uc010qjm.1	-	c.151C>A	c.(151-153)CGG>AGG	p.R51R	C10orf27_uc001jrj.1_Silent_p.R51R|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Silent_p.R51R|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Silent_p.R40R|C10orf27_uc009xqj.1_Silent_p.R40R|C10orf27_uc010qjp.1_Silent_p.R40R	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	51					cell differentiation|multicellular organismal development|spermatogenesis	cytosol					0														0.315385	115.831238	119.771017	41	89	KEEP	---	---	---	---	capture		Silent	SNP	72541683	72541683	1637	10	G	T	T	T	493	38	C10orf27	1	1
CDH23	64072	broad.mit.edu	37	10	73501649	73501649	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73501649G>T	uc001jrx.3	+	c.4816G>T	c.(4816-4818)GTG>TTG	p.V1606L	CDH23_uc001jsc.1_Missense_Mutation_p.V413L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1606	Cadherin 15.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.384615	14.267473	14.420579	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73501649	73501649	3237	10	G	T	T	T	624	48	CDH23	2	2
TTC18	118491	broad.mit.edu	37	10	75095212	75095212	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75095212T>C	uc009xrc.2	-	c.863A>G	c.(862-864)TAC>TGC	p.Y288C	TTC18_uc001jty.2_Missense_Mutation_p.Y288C|TTC18_uc009xrd.1_Missense_Mutation_p.Y96C	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	288							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.222222	18.037469	19.952281	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75095212	75095212	17239	10	T	C	C	C	741	57	TTC18	4	4
KCNMA1	3778	broad.mit.edu	37	10	78651442	78651442	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78651442C>G	uc001jxn.2	-	c.3183G>C	c.(3181-3183)CGG>CGC	p.R1061R	KCNMA1_uc001jxj.2_Silent_p.R1007R|KCNMA1_uc001jxk.1_Silent_p.R679R|KCNMA1_uc009xrt.1_Silent_p.R852R|KCNMA1_uc001jxl.1_Silent_p.R686R|KCNMA1_uc001jxo.2_Silent_p.R1044R|KCNMA1_uc001jxm.2_Silent_p.R1003R|KCNMA1_uc001jxq.2_Silent_p.R1033R	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1061	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)									0.269231	40.826529	43.325652	14	38	KEEP	---	---	---	---	capture		Silent	SNP	78651442	78651442	8378	10	C	G	G	G	379	30	KCNMA1	3	3
CYP26C1	340665	broad.mit.edu	37	10	94828349	94828349	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94828349C>T	uc010qns.1	+	c.1464C>T	c.(1462-1464)GCC>GCT	p.A488A	CYP26C1_uc009xud.2_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	488					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|oxidation-reduction process|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)												0.363636	12.397028	12.576996	4	7	KEEP	---	---	---	---	capture		Silent	SNP	94828349	94828349	4322	10	C	T	T	T	301	24	CYP26C1	2	2
CYP2C18	1562	broad.mit.edu	37	10	96447589	96447589	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96447589G>T	uc001kjv.3	+	c.231G>T	c.(229-231)TTG>TTT	p.L77F	CYP2C18_uc001kjw.3_Missense_Mutation_p.L77F|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.1_5'Flank	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	77					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)	4		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)										0.330357	105.761305	108.605803	37	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96447589	96447589	4330	10	G	T	T	T	594	46	CYP2C18	2	2
CYP2C18	1562	broad.mit.edu	37	10	96454680	96454680	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96454680C>T	uc001kjv.3	+	c.488C>T	c.(487-489)CCC>CTC	p.P163L	CYP2C18_uc001kjw.3_Missense_Mutation_p.P163L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	163					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)	4		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)										0.392157	62.588914	63.108326	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96454680	96454680	4330	10	C	T	T	T	286	22	CYP2C18	2	2
ENTPD1	953	broad.mit.edu	37	10	97605318	97605318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97605318C>T	uc010qoj.1	+	c.814C>T	c.(814-816)CAG>TAG	p.Q272*	ENTPD1_uc001kle.1_Nonsense_Mutation_p.Q267*|ENTPD1_uc001kli.3_Nonsense_Mutation_p.Q267*|ENTPD1_uc010qok.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc010qol.1_Nonsense_Mutation_p.Q152*|ENTPD1_uc001klh.3_Nonsense_Mutation_p.Q260*|ENTPD1_uc010qom.1_Nonsense_Mutation_p.Q260*|ENTPD1_uc010qon.1_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xva.2_Nonsense_Mutation_p.Q122*|ENTPD1_uc009xuz.2_Non-coding_Transcript	NM_001164178	NP_001157650	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	260	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)										0.17284	23.99039	32.192689	14	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97605318	97605318	5331	10	C	T	T	T	377	29	ENTPD1	5	2
SLIT1	6585	broad.mit.edu	37	10	98807550	98807550	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98807550C>T	uc001kmw.2	-	c.1531G>A	c.(1531-1533)GTG>ATG	p.V511M	SLIT1_uc009xvh.1_Missense_Mutation_p.V521M	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	511	LRRNT 3.				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)										0.360465	86.811763	88.281157	31	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98807550	98807550	15237	10	C	T	T	T	247	19	SLIT1	1	1
MUC6	4588	broad.mit.edu	37	11	1025314	1025314	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1025314G>T	uc001lsw.2	-	c.2853C>A	c.(2851-2853)CCC>CCA	p.P951P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	951	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.303922	79.277526	82.782423	31	71	KEEP	---	---	---	---	capture		Silent	SNP	1025314	1025314	10374	11	G	T	T	T	548	43	MUC6	2	2
DYNC2H1	79659	broad.mit.edu	37	11	103106399	103106399	+	Splice_Site_SNP	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103106399A>T	uc001phn.1	+	c.9568_splice	c.e62-2	p.V3190_splice	DYNC2H1_uc001pho.2_Splice_Site_SNP_p.V3190_splice|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.5	13.500166	13.500166	4	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	103106399	103106399	5032	11	A	T	T	T	91	7	DYNC2H1	5	3
DRD2	1813	broad.mit.edu	37	11	113286152	113286152	+	Silent	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113286152A>T	uc001pnz.2	-	c.714T>A	c.(712-714)GCT>GCA	p.A238A	DRD2_uc010rwv.1_Silent_p.A237A|DRD2_uc001poa.3_Silent_p.A238A|DRD2_uc001pob.3_Silent_p.A238A|DRD2_uc009yyr.1_Silent_p.A238A	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	238	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.180451	42.614299	55.394828	24	109	KEEP	---	---	---	---	capture		Silent	SNP	113286152	113286152	4941	11	A	T	T	T	132	11	DRD2	3	3
APOA5	116519	broad.mit.edu	37	11	116661394	116661394	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116661394G>T	uc001ppr.2	-	c.551C>A	c.(550-552)ACC>AAC	p.T184N	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.T184N|APOA5_uc009yzf.2_Missense_Mutation_p.T184N|APOA5_uc009yzg.2_Missense_Mutation_p.T210N	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	184					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)										0.23913	26.099528	28.959798	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116661394	116661394	795	11	G	T	T	T	572	44	APOA5	2	2
APOA4	337	broad.mit.edu	37	11	116691596	116691596	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:116691596G>A	uc001pps.1	-	c.1178C>T	c.(1177-1179)CCT>CTT	p.P393L		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)										0.188679	22.117308	26.925176	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116691596	116691596	794	11	G	A	A	A	455	35	APOA4	2	2
TREH	11181	broad.mit.edu	37	11	118532435	118532435	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118532435G>C	uc001pty.1	-	c.528C>G	c.(526-528)GAC>GAG	p.D176E	TREH_uc009zaj.1_Intron|TREH_uc001ptz.1_Missense_Mutation_p.D53E|TREH_uc009zak.2_Missense_Mutation_p.D176E	NM_007180	NP_009111	O43280	TREA_HUMAN	trehalase precursor	176					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			pancreas(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)										0.333333	62.13333	63.461098	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118532435	118532435	17013	11	G	C	C	C	464	36	TREH	3	3
CBL	867	broad.mit.edu	37	11	119170450	119170450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119170450G>T	uc001pwe.2	+	c.2680G>T	c.(2680-2682)GAA>TAA	p.E894*		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	894	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(133)|lung(9)|central_nervous_system(2)|ovary(1)	145		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)						309				0.397993	325.331608	328.062218	119	180	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119170450	119170450	2819	11	G	T	T	T	533	41	CBL	5	2
MFRP	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119215663G>T	uc001pwj.2	-	c.693C>A	c.(691-693)CTC>CTA	p.L231L	MFRP_uc010rzf.1_Non-coding_Transcript|MFRP_uc010rzg.1_Silent_p.L231L	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)										0.263158	11.865563	12.830114	5	14	KEEP	---	---	---	---	capture		Silent	SNP	119215663	119215663	9916	11	G	T	T	T	522	41	MFRP	2	2
TBCEL	219899	broad.mit.edu	37	11	120916426	120916426	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120916426C>T	uc009zay.2	+	c.27C>T	c.(25-27)TTC>TTT	p.F9F	TBCEL_uc001pxo.2_Silent_p.F9F|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_Non-coding_Transcript	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9						cytoplasm|cytoskeleton					0		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)										0.461538	35.497517	35.530965	12	14	KEEP	---	---	---	---	capture		Silent	SNP	120916426	120916426	16161	11	C	T	T	T	376	29	TBCEL	2	2
ZNF202	7753	broad.mit.edu	37	11	123601254	123601254	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123601254C>T	uc001pzd.1	-	c.343G>A	c.(343-345)GAG>AAG	p.E115K	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.E115K|ZNF202_uc001pzf.1_Missense_Mutation_p.E115K	NM_003455	NP_003446	O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)										0.306452	102.006144	106.146944	38	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123601254	123601254	18354	11	C	T	T	T	403	31	ZNF202	1	1
VWA5A	4013	broad.mit.edu	37	11	123988412	123988412	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123988412A>T	uc001pzu.2	+	c.76A>T	c.(76-78)ATT>TTT	p.I26F	VWA5A_uc001pzr.2_Missense_Mutation_p.I26F|VWA5A_uc001pzs.2_Missense_Mutation_p.I26F|VWA5A_uc010sae.1_Missense_Mutation_p.I42F|VWA5A_uc001pzt.2_Missense_Mutation_p.I26F	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	26	VIT.									ovary(1)	1														0.302326	38.960168	40.459251	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123988412	123988412	17811	11	A	T	T	T	104	8	VWA5A	3	3
MUC5B	727897	broad.mit.edu	37	11	1263316	1263316	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1263316G>T	uc009ycr.1	+	c.7285G>T	c.(7285-7287)GCT>TCT	p.A2429S	MUC5B_uc001ltb.2_Missense_Mutation_p.A1739S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1736	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.375	18.94639	19.165761	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1263316	1263316	10373	11	G	T	T	T	494	38	MUC5B	1	1
MUC5B	727897	broad.mit.edu	37	11	1271377	1271377	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1271377G>A	uc009ycr.1	+	c.14686G>A	c.(14686-14688)GAG>AAG	p.E4896K	MUC5B_uc001ltb.2_Missense_Mutation_p.E4426K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4423	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.198473	58.076416	69.161932	26	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1271377	1271377	10373	11	G	A	A	A	429	33	MUC5B	2	2
APLP2	334	broad.mit.edu	37	11	129996686	129996686	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129996686G>A	uc010sby.1	+	c.1182G>A	c.(1180-1182)AAG>AAA	p.K394K	APLP2_uc001qfp.2_Silent_p.K394K|APLP2_uc001qfq.2_Silent_p.K338K|APLP2_uc010sbz.1_Silent_p.K182K|APLP2_uc001qfr.2_Silent_p.K160K|APLP2_uc001qfs.2_Silent_p.K165K|APLP2_uc001qfv.2_Silent_p.K285K	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	394	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)										0.33121	159.458162	163.415927	52	105	KEEP	---	---	---	---	capture		Silent	SNP	129996686	129996686	790	11	G	A	A	A	451	35	APLP2	2	2
HPS5	11234	broad.mit.edu	37	11	18313334	18313334	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18313334C>T	uc001mod.1	-	c.2095G>A	c.(2095-2097)GAA>AAA	p.E699K	HPS5_uc001moe.1_Missense_Mutation_p.E585K|HPS5_uc001mof.1_Missense_Mutation_p.E585K	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	699						cytosol				ovary(1)|pancreas(1)	2														0.254545	33.821114	36.829997	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18313334	18313334	7634	11	C	T	T	T	377	29	HPS5	2	2
HPS5	11234	broad.mit.edu	37	11	18316688	18316688	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18316688C>T	uc001mod.1	-	c.1663G>A	c.(1663-1665)GAG>AAG	p.E555K	HPS5_uc001moe.1_Missense_Mutation_p.E441K|HPS5_uc001mof.1_Missense_Mutation_p.E441K	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	555						cytosol				ovary(1)|pancreas(1)	2														0.222222	21.622791	24.820028	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18316688	18316688	7634	11	C	T	T	T	377	29	HPS5	2	2
TNNI2	7136	broad.mit.edu	37	11	1862435	1862435	+	Nonsense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1862435A>T	uc010qxe.1	+	c.451A>T	c.(451-453)AAG>TAG	p.K151*	TNNI2_uc010qxc.1_Nonsense_Mutation_p.K149*|TNNI2_uc010qxd.1_Nonsense_Mutation_p.K149*	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	151					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.242424	18.383211	20.380114	8	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1862435	1862435	16868	11	A	T	T	T	117	9	TNNI2	5	3
TH	7054	broad.mit.edu	37	11	2191051	2191051	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2191051C>A	uc001lvq.2	-	c.234G>T	c.(232-234)AAG>AAT	p.K78N	TH_uc001lvp.2_Missense_Mutation_p.K74N|TH_uc001lvr.2_Missense_Mutation_p.K47N|TH_uc010qxj.1_Missense_Mutation_p.K51N|TH_uc001lvs.2_Missense_Mutation_p.K47N|TH_uc001lvt.2_Missense_Mutation_p.K51N|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	78					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|oxidation-reduction process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)									0.204545	18.750407	22.314757	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2191051	2191051	16366	11	C	A	A	A	311	24	TH	2	2
ANO5	203859	broad.mit.edu	37	11	22248914	22248914	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22248914G>T	uc001mqi.2	+	c.430G>T	c.(430-432)GCT>TCT	p.A144S	ANO5_uc001mqj.2_Missense_Mutation_p.A143S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	144	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4														0.28	37.528318	39.704345	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22248914	22248914	708	11	G	T	T	T	598	46	ANO5	2	2
IFITM1	8519	broad.mit.edu	37	11	315104	315104	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:315104G>T	uc001loy.3	+	c.369G>T	c.(367-369)CGG>CGT	p.R123R		NM_003641	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	123	Interaction with CAV1.|Extracellular (Potential).				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)										0.233766	40.802707	45.805327	18	59	KEEP	---	---	---	---	capture		Silent	SNP	315104	315104	7827	11	G	T	T	T	548	43	IFITM1	2	2
RAG2	5897	broad.mit.edu	37	11	36614834	36614834	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36614834G>T	uc001mwv.3	-	c.885C>A	c.(883-885)AAC>AAA	p.N295K	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	295					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_lung(20;0.226)	all_hematologic(20;0.00756)												0.228571	103.107333	114.934106	40	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36614834	36614834	13465	11	G	T	T	T	620	48	RAG2	2	2
OR51E1	143503	broad.mit.edu	37	11	4674254	4674254	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4674254C>G	uc001lzi.3	+	c.498C>G	c.(496-498)ATC>ATG	p.I166M		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.201613	67.50384	77.762444	25	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4674254	4674254	11504	11	C	G	G	G	369	29	OR51E1	3	3
MYBPC3	4607	broad.mit.edu	37	11	47367838	47367838	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47367838G>C	uc001nfa.3	-	c.1010C>G	c.(1009-1011)GCC>GGC	p.A337G		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	337					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)										0.4	38.892823	39.155562	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47367838	47367838	10408	11	G	C	C	C	546	42	MYBPC3	3	3
OR51G2	81282	broad.mit.edu	37	11	4936270	4936270	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4936270G>A	uc001lzr.1	-	c.624C>T	c.(622-624)ATC>ATT	p.I208I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.214286	19.100862	22.234101	9	33	KEEP	---	---	---	---	capture		Silent	SNP	4936270	4936270	11509	11	G	A	A	A	473	37	OR51G2	1	1
OR51B6	390058	broad.mit.edu	37	11	5373536	5373536	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5373536C>T	uc010qzb.1	+	c.799C>T	c.(799-801)CCT>TCT	p.P267S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.236364	32.844924	36.340866	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5373536	5373536	11502	11	C	T	T	T	390	30	OR51B6	2	2
OR4S2	219431	broad.mit.edu	37	11	55418972	55418972	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55418972C>A	uc001nhs.1	+	c.593C>A	c.(592-594)ACA>AAA	p.T198K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.231481	62.319235	69.452696	25	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55418972	55418972	11493	11	C	A	A	A	221	17	OR4S2	2	2
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55681456G>A	uc010rir.1	-	c.603C>T	c.(601-603)ACC>ACT	p.T201T		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.25	15.941703	17.302963	6	18	KEEP	---	---	---	---	capture		Silent	SNP	55681456	55681456	11595	11	G	A	A	A	496	39	OR5W2	1	1
OR5M11	219487	broad.mit.edu	37	11	56310672	56310672	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310672G>A	uc010rjl.1	-	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.183673	19.545376	24.146669	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56310672	56310672	11584	11	G	A	A	A	507	39	OR5M11	1	1
OR5M1	390168	broad.mit.edu	37	11	56380893	56380893	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56380893C>A	uc001nja.1	-	c.86G>T	c.(85-87)GGG>GTG	p.G29V		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.230769	21.453616	24.045088	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56380893	56380893	11582	11	C	A	A	A	286	22	OR5M1	2	2
LRRC55	219527	broad.mit.edu	37	11	56949837	56949837	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56949837G>C	uc001njl.1	+	c.470G>C	c.(469-471)CGC>CCC	p.R157P		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	127	LRR 3.					integral to membrane					0														0.257143	27.262468	29.130897	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56949837	56949837	9386	11	G	C	C	C	494	38	LRRC55	3	3
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995949C>T	uc010rkd.1	-	c.399G>A	c.(397-399)CCG>CCA	p.P133P		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.371429	36.364843	36.873582	13	22	KEEP	---	---	---	---	capture		Silent	SNP	57995949	57995949	11322	11	C	T	T	T	340	27	OR10Q1	1	1
OR5B21	219968	broad.mit.edu	37	11	58275103	58275103	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275103G>T	uc010rki.1	-	c.476C>A	c.(475-477)GCA>GAA	p.A159E		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.27907	33.080349	34.968663	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58275103	58275103	11561	11	G	T	T	T	598	46	OR5B21	2	2
OR5B21	219968	broad.mit.edu	37	11	58275540	58275540	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275540C>G	uc010rki.1	-	c.39G>C	c.(37-39)TTG>TTC	p.L13F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.268293	33.506486	35.493509	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58275540	58275540	11561	11	C	G	G	G	272	21	OR5B21	3	3
GLYAT	10249	broad.mit.edu	37	11	58477469	58477469	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58477469G>C	uc001nnb.2	-	c.661C>G	c.(661-663)CTA>GTA	p.L221V		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	221					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)					191				0.257143	50.812965	54.558855	18	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58477469	58477469	6747	11	G	C	C	C	425	33	GLYAT	3	3
OR52L1	338751	broad.mit.edu	37	11	6007293	6007293	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6007293C>T	uc001mcd.2	-	c.868G>A	c.(868-870)GTC>ATC	p.V290I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	290	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.277778	12.366675	13.16689	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6007293	6007293	11535	11	C	T	T	T	221	17	OR52L1	2	2
OR52L1	338751	broad.mit.edu	37	11	6007353	6007353	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6007353A>T	uc001mcd.2	-	c.808T>A	c.(808-810)TAT>AAT	p.Y270N		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	270	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.229167	25.701047	28.929452	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6007353	6007353	11535	11	A	T	T	T	195	15	OR52L1	3	3
ZP1	22917	broad.mit.edu	37	11	60636693	60636693	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60636693C>T	uc001nqd.2	+	c.272C>T	c.(271-273)CCT>CTT	p.P91L	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	91	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.347826	48.083911	49.025116	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60636693	60636693	18819	11	C	T	T	T	312	24	ZP1	2	2
TMEM132A	54972	broad.mit.edu	37	11	60699590	60699590	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60699590G>T	uc001nqi.2	+	c.1350G>T	c.(1348-1350)CAG>CAT	p.Q450H	TMEM132A_uc001nqj.2_Missense_Mutation_p.Q449H|TMEM132A_uc001nqk.2_Missense_Mutation_p.Q462H|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform a	449	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0														0.329114	70.430066	72.471695	26	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60699590	60699590	16576	11	G	T	T	T	451	35	TMEM132A	2	2
CD5	921	broad.mit.edu	37	11	60889133	60889133	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60889133G>A	uc009ynk.2	+	c.856G>A	c.(856-858)GAA>AAA	p.E286K		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	286	Extracellular (Potential).|SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)										0.366667	89.048251	90.456083	33	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60889133	60889133	3149	11	G	A	A	A	585	45	CD5	2	2
DAK	26007	broad.mit.edu	37	11	61106638	61106638	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61106638G>A	uc001nre.2	+	c.294G>A	c.(292-294)CAG>CAA	p.Q98Q	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.Q28Q	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	98	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0														0.39759	102.356594	103.118625	33	50	KEEP	---	---	---	---	capture		Silent	SNP	61106638	61106638	4395	11	G	A	A	A	451	35	DAK	2	2
OR56B4	196335	broad.mit.edu	37	11	6129473	6129473	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6129473G>T	uc010qzx.1	+	c.465G>T	c.(463-465)ATG>ATT	p.M155I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.25974	51.663193	55.689075	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6129473	6129473	11548	11	G	T	T	T	598	46	OR56B4	2	2
AHNAK	79026	broad.mit.edu	37	11	62294197	62294197	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62294197C>A	uc001ntl.2	-	c.7692G>T	c.(7690-7692)GGG>GGT	p.G2564G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2564					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.361702	139.390664	141.761869	51	90	KEEP	---	---	---	---	capture		Silent	SNP	62294197	62294197	417	11	C	A	A	A	327	26	AHNAK	2	2
INTS5	80789	broad.mit.edu	37	11	62416029	62416029	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62416029A>G	uc001nud.2	-	c.1523T>C	c.(1522-1524)GTC>GCC	p.V508A	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	508					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.153846	56.341757	75.700817	26	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62416029	62416029	8082	11	A	G	G	G	130	10	INTS5	4	4
ZBTB3	79842	broad.mit.edu	37	11	62519745	62519745	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62519745G>A	uc001nuz.2	-	c.1542C>T	c.(1540-1542)GAC>GAT	p.D514D		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	514	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.369565	97.427234	98.802276	34	58	KEEP	---	---	---	---	capture		Silent	SNP	62519745	62519745	18120	11	G	A	A	A	568	44	ZBTB3	2	2
SLC3A2	6520	broad.mit.edu	37	11	62655685	62655685	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62655685G>C	uc001nwb.2	+	c.1618G>C	c.(1618-1620)GTG>CTG	p.V540L	SLC3A2_uc001nwc.2_Missense_Mutation_p.V510L|SLC3A2_uc001nwd.2_Missense_Mutation_p.V509L|SLC3A2_uc001nwe.2_Missense_Mutation_p.V478L|SLC3A2_uc001nwf.2_Missense_Mutation_p.V447L|SLC3A2_uc001nwg.2_Missense_Mutation_p.V408L	NM_001012661	NP_001012679	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform a	509	Extracellular (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0														0.377778	118.63336	119.811146	34	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62655685	62655685	15124	11	G	C	C	C	624	48	SLC3A2	3	3
SLC22A6	9356	broad.mit.edu	37	11	62751918	62751918	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62751918G>T	uc001nwk.2	-	c.245C>A	c.(244-246)ACC>AAC	p.T82N	SLC22A6_uc001nwl.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwj.2_Missense_Mutation_p.T82N|SLC22A6_uc001nwm.2_Missense_Mutation_p.T82N	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	82	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.198276	51.056369	60.890197	23	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62751918	62751918	14955	11	G	T	T	T	572	44	SLC22A6	2	2
HRASLS5	117245	broad.mit.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63235916C>A	uc001nwy.2	-	c.397G>T	c.(397-399)GGA>TGA	p.G133*	HRASLS5_uc001nwz.2_Nonsense_Mutation_p.G123*|HRASLS5_uc010rmq.1_Nonsense_Mutation_p.G133*|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	133										ovary(1)	1														0.33871	59.159469	60.5839	21	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	63235916	63235916	7643	11	C	A	A	A	273	21	HRASLS5	5	2
NRXN2	9379	broad.mit.edu	37	11	64374937	64374937	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64374937C>A	uc001oar.2	-	c.4870G>T	c.(4870-4872)GGC>TGC	p.G1624C	NRXN2_uc001oas.2_Missense_Mutation_p.G1554C|NRXN2_uc001oao.2_Missense_Mutation_p.G264C|NRXN2_uc001oap.2_Missense_Mutation_p.G578C|NRXN2_uc001oaq.2_Missense_Mutation_p.G1291C	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	578	Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.333333	27.894045	28.667077	11	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64374937	64374937	11071	11	C	A	A	A	286	22	NRXN2	2	2
PYGM	5837	broad.mit.edu	37	11	64518939	64518939	+	Splice_Site_SNP	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64518939C>A	uc001oax.3	-	c.1828_splice	c.e16-1	p.A610_splice	PYGM_uc001oay.3_Splice_Site_SNP_p.A522_splice	NM_005609	NP_005600			muscle glycogen phosphorylase isoform 1						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)									0.308271	105.107789	109.476007	41	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	64518939	64518939	13320	11	C	A	A	A	312	24	PYGM	5	2
NAALADL1	10004	broad.mit.edu	37	11	64815843	64815843	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64815843G>A	uc001ocn.2	-	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	NAALADL1_uc010rnw.1_5'UTR|NAALADL1_uc009ypz.2_Non-coding_Transcript	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	405	NAALADase.|Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0														0.241379	32.095165	35.660794	14	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64815843	64815843	10524	11	G	A	A	A	481	37	NAALADL1	1	1
SIPA1	6494	broad.mit.edu	37	11	65417286	65417286	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65417286G>T	uc001ofb.2	+	c.2696G>T	c.(2695-2697)AGG>ATG	p.R899M	SIPA1_uc010rom.1_Missense_Mutation_p.R797M|SIPA1_uc001ofd.2_Missense_Mutation_p.R899M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	899					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|nucleus|perinuclear region of cytoplasm	Rap GTPase activator activity				0														0.376623	81.250389	82.281136	29	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65417286	65417286	14823	11	G	T	T	T	455	35	SIPA1	2	2
CATSPER1	117144	broad.mit.edu	37	11	65793536	65793536	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65793536G>C	uc001ogt.2	-	c.315C>G	c.(313-315)GTC>GTG	p.V105V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	105	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2														0.282759	118.928397	125.06678	41	104	KEEP	---	---	---	---	capture		Silent	SNP	65793536	65793536	2806	11	G	C	C	C	522	41	CATSPER1	3	3
RIN1	9610	broad.mit.edu	37	11	66102012	66102012	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66102012C>T	uc001ohn.1	-	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K	RIN1_uc010roy.1_Missense_Mutation_p.E113K|RIN1_uc009yrd.1_Missense_Mutation_p.E113K|RIN1_uc010roz.1_Missense_Mutation_p.E315K|RIN1_uc010rpa.1_Missense_Mutation_p.E315K	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	420	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(1)	1														0.4	11.198532	11.28578	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66102012	66102012	13848	11	C	T	T	T	377	29	RIN1	2	2
CCDC87	55231	broad.mit.edu	37	11	66357977	66357977	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66357977T>A	uc001oiq.3	-	c.2510A>T	c.(2509-2511)CAC>CTC	p.H837L	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	837										ovary(1)	1														0.334483	275.516209	282.531903	97	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66357977	66357977	2987	11	T	A	A	A	767	59	CCDC87	3	3
NDUFS8	4728	broad.mit.edu	37	11	67800450	67800450	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67800450G>T	uc001onc.2	+	c.170G>T	c.(169-171)CGC>CTC	p.R57L	NDUFS8_uc010rpz.1_Missense_Mutation_p.R57L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R57L	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	57					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)	Colon(116;1205 2770 20054)								0.43	134.61353	135.039932	43	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67800450	67800450	10697	11	G	T	T	T	494	38	NDUFS8	1	1
CCND1	595	broad.mit.edu	37	11	69456155	69456155	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69456155A>C	uc001opa.2	+	c.74A>C	c.(73-75)GAC>GCC	p.D25A		NM_053056	NP_444284	P24385	CCND1_HUMAN	cyclin D1	25					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding				0	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	Pancreas(65;393 884 2788 21700 24360 27795 36895)				94	Multiple Myeloma(6;0.086)			0.205479	77.076261	88.81713	30	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69456155	69456155	3043	11	A	C	C	C	130	10	CCND1	4	4
WNT11	7481	broad.mit.edu	37	11	75902715	75902715	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75902715C>A	uc001oxe.2	-	c.783G>T	c.(781-783)AAG>AAT	p.K261N	WNT11_uc001oxf.1_Missense_Mutation_p.K261N	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	261					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|promoter binding|protein kinase activator activity|Ras GTPase activator activity|transcription activator activity|transcription repressor activity			skin(1)	1														0.201258	65.599252	78.799515	32	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75902715	75902715	17958	11	C	A	A	A	311	24	WNT11	2	2
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76372111C>A	uc001oxq.3	-	c.526G>T	c.(526-528)GAG>TAG	p.E176*	LRRC32_uc001oxr.3_Nonsense_Mutation_p.E176*|LRRC32_uc010rsf.1_Nonsense_Mutation_p.E176*	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	176	Extracellular (Potential).|LRR 6.					integral to plasma membrane					0														0.189189	27.405341	34.09492	14	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76372111	76372111	9362	11	C	A	A	A	390	30	LRRC32	5	2
ODZ4	26011	broad.mit.edu	37	11	78412823	78412823	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78412823T>C	uc001ozl.3	-	c.4835A>G	c.(4834-4836)TAC>TGC	p.Y1612C	ODZ4_uc009yvb.1_Missense_Mutation_p.Y196C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1612	Extracellular (Potential).|YD 2.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.214815	83.311908	93.438471	29	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78412823	78412823	11242	11	T	C	C	C	741	57	ODZ4	4	4
C11orf82	220042	broad.mit.edu	37	11	82643578	82643578	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82643578G>C	uc001ozt.2	+	c.1198G>C	c.(1198-1200)GAG>CAG	p.E400Q	C11orf82_uc010rsr.1_Missense_Mutation_p.E99Q|C11orf82_uc010rss.1_Missense_Mutation_p.E99Q|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	400					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2														0.190141	74.145488	86.887715	27	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82643578	82643578	1704	11	G	C	C	C	429	33	C11orf82	3	3
MTNR1B	4544	broad.mit.edu	37	11	92714702	92714702	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92714702G>C	uc001pdk.1	+	c.313G>C	c.(313-315)GGC>CGC	p.G105R		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	105	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.278261	164.489916	174.672122	64	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92714702	92714702	10345	11	G	C	C	C	507	39	MTNR1B	3	3
MTNR1B	4544	broad.mit.edu	37	11	92715222	92715222	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92715222C>A	uc001pdk.1	+	c.833C>A	c.(832-834)CCC>CAC	p.P278H		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	278	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.287179	140.909486	148.838523	56	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92715222	92715222	10345	11	C	A	A	A	286	22	MTNR1B	2	2
PIWIL4	143689	broad.mit.edu	37	11	94330994	94330994	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94330994A>G	uc001pfa.2	+	c.1293A>G	c.(1291-1293)CTA>CTG	p.L431L	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.1_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	431					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.4	34.845254	35.063794	10	15	KEEP	---	---	---	---	capture		Silent	SNP	94330994	94330994	12384	11	A	G	G	G	184	15	PIWIL4	4	4
NR1H4	9971	broad.mit.edu	37	12	100934574	100934574	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100934574G>A	uc001tht.1	+	c.1086G>A	c.(1084-1086)TTG>TTA	p.L362L	NR1H4_uc001thp.1_Silent_p.L348L|NR1H4_uc001thq.1_Silent_p.L352L|NR1H4_uc010svj.1_Non-coding_Transcript|NR1H4_uc001thr.1_Silent_p.L352L|NR1H4_uc010svk.1_Silent_p.L301L|NR1H4_uc001ths.1_Silent_p.L358L	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	362	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.297872	40.431179	42.147986	14	33	KEEP	---	---	---	---	capture		Silent	SNP	100934574	100934574	11024	12	G	A	A	A	607	47	NR1H4	2	2
NR1H4	9971	broad.mit.edu	37	12	100957082	100957082	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100957082C>T	uc001tht.1	+	c.1276C>T	c.(1276-1278)CTT>TTT	p.L426F	NR1H4_uc001thp.1_Missense_Mutation_p.L412F|NR1H4_uc001thq.1_Missense_Mutation_p.L416F|NR1H4_uc010svj.1_Non-coding_Transcript|NR1H4_uc001thr.1_Missense_Mutation_p.L416F|NR1H4_uc010svk.1_Missense_Mutation_p.L365F|NR1H4_uc001ths.1_Missense_Mutation_p.L422F	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	426	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.461538	55.545471	55.595818	18	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100957082	100957082	11024	12	C	T	T	T	416	32	NR1H4	2	2
KIAA1033	23325	broad.mit.edu	37	12	105515907	105515907	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105515907C>G	uc010swr.1	+	c.677C>G	c.(676-678)TCT>TGT	p.S226C	KIAA1033_uc001tld.2_Missense_Mutation_p.S226C|KIAA1033_uc010sws.1_Missense_Mutation_p.S38C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	226					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2														0.346154	29.967217	30.510533	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105515907	105515907	8513	12	C	G	G	G	416	32	KIAA1033	3	3
POLR3B	55703	broad.mit.edu	37	12	106848433	106848433	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106848433A>G	uc001tlp.2	+	c.2237A>G	c.(2236-2238)TAT>TGT	p.Y746C	POLR3B_uc001tlq.2_Missense_Mutation_p.Y688C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	746					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.291667	22.617077	23.548948	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106848433	106848433	12657	12	A	G	G	G	208	16	POLR3B	4	4
CORO1C	23603	broad.mit.edu	37	12	109055932	109055932	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109055932T>C	uc009zva.2	-	c.480A>G	c.(478-480)GTA>GTG	p.V160V	CORO1C_uc001tnj.2_Silent_p.V107V|CORO1C_uc010sxf.1_Silent_p.V107V	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	107	WD 1.				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(2)	2														0.344828	33.743692	34.359213	10	19	KEEP	---	---	---	---	capture		Silent	SNP	109055932	109055932	3893	12	T	C	C	C	626	49	CORO1C	4	4
NOS1	4842	broad.mit.edu	37	12	117660523	117660523	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117660523T>A	uc001twm.1	-	c.3972A>T	c.(3970-3972)CCA>CCT	p.P1324P		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1324					arginine catabolic process|multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|oxidation-reduction process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(2)|pancreas(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.382857	195.384099	197.489414	67	108	KEEP	---	---	---	---	capture		Silent	SNP	117660523	117660523	10944	12	T	A	A	A	808	63	NOS1	3	3
CABP1	9478	broad.mit.edu	37	12	121098917	121098917	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121098917G>A	uc001tyu.2	+	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	CABP1_uc001tyv.2_Missense_Mutation_p.R185Q|CABP1_uc001tyw.2_Missense_Mutation_p.R125Q|CABP1_uc001tyx.2_Missense_Mutation_p.R170Q	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	calcium binding protein 1 isoform 3	328	EF-hand 3.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.25	32.949904	35.904184	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121098917	121098917	2647	12	G	A	A	A	481	37	CABP1	1	1
DHX37	57647	broad.mit.edu	37	12	125453184	125453184	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125453184C>A	uc001ugy.2	-	c.1304G>T	c.(1303-1305)AGG>ATG	p.R435M		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)										0.236264	99.025615	110.604936	43	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125453184	125453184	4689	12	C	A	A	A	312	24	DHX37	2	2
TMEM132B	114795	broad.mit.edu	37	12	126137061	126137061	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126137061G>T	uc001uhe.1	+	c.1974G>T	c.(1972-1974)GCG>GCT	p.A658A	TMEM132B_uc001uhf.1_Silent_p.A170A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	658	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.348485	65.009141	66.344359	23	43	KEEP	---	---	---	---	capture		Silent	SNP	126137061	126137061	16577	12	G	T	T	T	496	39	TMEM132B	1	1
GRIN2B	2904	broad.mit.edu	37	12	13717013	13717013	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13717013G>T	uc001rbt.2	-	c.3159C>A	c.(3157-3159)GAC>GAA	p.D1053E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1053	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)				p.D1053D(SNU1040-Tumor)	371				0.40625	39.369482	39.615014	13	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13717013	13717013	7059	12	G	T	T	T	516	40	GRIN2B	1	1
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13717313G>T	uc001rbt.2	-	c.2859C>A	c.(2857-2859)CCC>CCA	p.P953P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	953	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				0.24359	45.230292	49.87523	19	59	KEEP	---	---	---	---	capture		Silent	SNP	13717313	13717313	7059	12	G	T	T	T	444	35	GRIN2B	2	2
ABCC9	10060	broad.mit.edu	37	12	21981911	21981911	+	Missense_Mutation	SNP	C	G	G	rs12298510		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21981911C>G	uc001rfh.2	-	c.3650G>C	c.(3649-3651)AGA>ACA	p.R1217T	ABCC9_uc001rfi.1_Missense_Mutation_p.R1217T|ABCC9_uc001rfj.1_Missense_Mutation_p.R1181T	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1217	Extracellular (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.232558	28.825437	31.643788	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21981911	21981911	60	12	C	G	G	G	416	32	ABCC9	3	3
ABCC9	10060	broad.mit.edu	37	12	22068796	22068796	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22068796G>T	uc001rfh.2	-	c.622C>A	c.(622-624)CTC>ATC	p.L208I	ABCC9_uc001rfi.1_Missense_Mutation_p.L208I|ABCC9_uc001rfj.1_Missense_Mutation_p.L208I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	208	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.333333	16.643442	17.086532	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22068796	22068796	60	12	G	T	T	T	455	35	ABCC9	2	2
ITPR2	3709	broad.mit.edu	37	12	26553192	26553192	+	Splice_Site_SNP	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26553192C>G	uc001rhg.2	-	c.7400_splice	c.e53-1	p.A2467_splice	ITPR2_uc009zjg.1_Splice_Site_SNP_p.A618_splice	NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.258065	22.884537	24.529484	8	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26553192	26553192	8225	12	C	G	G	G	364	28	ITPR2	5	3
TMTC1	83857	broad.mit.edu	37	12	29786167	29786167	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29786167C>A	uc001rjb.2	-	c.717G>T	c.(715-717)GAG>GAT	p.E239D	TMTC1_uc001riz.2_5'UTR|TMTC1_uc001rja.2_Missense_Mutation_p.E83D|TMTC1_uc001rjc.1_Missense_Mutation_p.E301D	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	239						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.209302	18.048529	21.415325	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29786167	29786167	16801	12	C	A	A	A	415	32	TMTC1	2	2
CNTN1	1272	broad.mit.edu	37	12	41410526	41410526	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41410526A>G	uc001rmm.1	+	c.2227A>G	c.(2227-2229)ATA>GTA	p.I743V	CNTN1_uc001rmn.1_Missense_Mutation_p.I732V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	743	Fibronectin type-III 2.				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				0.268293	28.306431	30.293818	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41410526	41410526	3778	12	A	G	G	G	104	8	CNTN1	4	4
NELL2	4753	broad.mit.edu	37	12	45004705	45004705	+	Nonsense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45004705A>T	uc010skz.1	-	c.1643T>A	c.(1642-1644)TTA>TAA	p.L548*	NELL2_uc001rof.3_Nonsense_Mutation_p.L497*|NELL2_uc001rog.2_Nonsense_Mutation_p.L498*|NELL2_uc001roh.2_Nonsense_Mutation_p.L498*|NELL2_uc009zkd.2_Nonsense_Mutation_p.L497*|NELL2_uc010sla.1_Nonsense_Mutation_p.L521*|NELL2_uc001roi.1_Nonsense_Mutation_p.L498*|NELL2_uc010slb.1_Nonsense_Mutation_p.L497*	NM_001145107	NP_001138579	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform a	498	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			central_nervous_system(1)	1	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)										0.381818	58.66191	59.335503	21	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45004705	45004705	10733	12	A	T	T	T	169	13	NELL2	5	3
DBX2	440097	broad.mit.edu	37	12	45410214	45410214	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45410214C>G	uc001rok.1	-	c.875G>C	c.(874-876)AGG>ACG	p.R292T		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	292					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)										0.214286	25.528754	29.802308	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45410214	45410214	4431	12	C	G	G	G	312	24	DBX2	3	3
AKAP3	10566	broad.mit.edu	37	12	4747357	4747357	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4747357T>C	uc001qnb.3	-	c.6A>G	c.(4-6)TCA>TCG	p.S2S		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	2					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.26	32.951413	35.559662	13	37	KEEP	---	---	---	---	capture		Silent	SNP	4747357	4747357	455	12	T	C	C	C	704	55	AKAP3	4	4
ASB8	140461	broad.mit.edu	37	12	48543473	48543473	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48543473G>T	uc001rrh.2	-	c.543C>A	c.(541-543)AAC>AAA	p.N181K	ASB8_uc010slr.1_Missense_Mutation_p.N177K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	181					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1														0.238806	38.266531	42.440902	16	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48543473	48543473	1047	12	G	T	T	T	568	44	ASB8	2	2
WNT1	7471	broad.mit.edu	37	12	49373271	49373271	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49373271C>T	uc001rsu.2	+	c.125C>T	c.(124-126)TCC>TTC	p.S42F		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	42					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of transcription regulator activity|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|promoter binding|transcription activator activity			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)						31				0.271739	65.838399	70.157867	25	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49373271	49373271	17955	12	C	T	T	T	390	30	WNT1	2	2
MLL2	8085	broad.mit.edu	37	12	49435132	49435132	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49435132C>A	uc001rta.3	-	c.6421G>T	c.(6421-6423)GGG>TGG	p.G2141W		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2141	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.368421	19.927242	20.213388	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49435132	49435132	10011	12	C	A	A	A	299	23	MLL2	1	1
NR4A1	3164	broad.mit.edu	37	12	52448768	52448768	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52448768G>T	uc010sno.1	+	c.695G>T	c.(694-696)GGG>GTG	p.G232V	NR4A1_uc001rzr.2_Missense_Mutation_p.G219V|NR4A1_uc009zmb.1_Missense_Mutation_p.G219V|NR4A1_uc001rzs.2_Missense_Mutation_p.G219V|NR4A1_uc001rzt.2_Missense_Mutation_p.G219V|NR4A1_uc009zmc.2_5'Flank	NM_173157	NP_775180	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	219					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)										0.346847	204.454109	209.029885	77	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52448768	52448768	11037	12	G	T	T	T	559	43	NR4A1	2	2
C12orf44	60673	broad.mit.edu	37	12	52467573	52467573	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52467573A>G	uc001rzu.3	+	c.139A>G	c.(139-141)ATT>GTT	p.I47V	C12orf44_uc009zmd.2_Missense_Mutation_p.I47V	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	47				I -> T (in Ref. 1; BAB13907).	autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)										0.354167	49.939723	50.848435	17	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52467573	52467573	1734	12	A	G	G	G	104	8	C12orf44	4	4
KRT82	3888	broad.mit.edu	37	12	52788852	52788853	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52788852_52788853GG>TT	uc001sai.1	-	c.1448_1449CC>AA	c.(1447-1449)CCC>CAA	p.P483Q		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	483	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.193)										0.25	61.050275	66.506933	24	72	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	52788852	52788853	8811	12	GG	TT	TT	TT	444	35	KRT82	2	2
KRT73	319101	broad.mit.edu	37	12	53010126	53010126	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53010126G>A	uc001sas.2	-	c.486C>T	c.(484-486)ACC>ACT	p.T162T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	162	Coil 1A.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.191011	39.120179	47.062946	17	72	KEEP	---	---	---	---	capture		Silent	SNP	53010126	53010126	8801	12	G	A	A	A	600	47	KRT73	2	2
KRT2	3849	broad.mit.edu	37	12	53042001	53042001	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53042001C>A	uc001sat.2	-	c.1078G>T	c.(1078-1080)GCC>TCC	p.A360S		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	360	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)										0.325	115.800055	119.052578	39	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53042001	53042001	8772	12	C	A	A	A	351	27	KRT2	1	1
KRT2	3849	broad.mit.edu	37	12	53045355	53045355	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53045355G>A	uc001sat.2	-	c.572C>T	c.(571-573)TCC>TTC	p.S191F		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	191	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)										0.218182	26.284217	30.302805	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53045355	53045355	8772	12	G	A	A	A	533	41	KRT2	2	2
TENC1	23371	broad.mit.edu	37	12	53451395	53451395	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53451395T>C	uc001sbn.2	+	c.920T>C	c.(919-921)ATG>ACG	p.M307T	TENC1_uc001sbl.2_Missense_Mutation_p.M173T|TENC1_uc001sbo.1_Missense_Mutation_p.M297T|TENC1_uc001sbp.2_Missense_Mutation_p.M297T|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_015319	NP_056134	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	297					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			pancreas(1)	1														0.537879	691.461905	691.946058	213	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53451395	53451395	16285	12	T	C	C	C	663	51	TENC1	4	4
HOXC13	3229	broad.mit.edu	37	12	54338891	54338891	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54338891A>G	uc001sei.2	+	c.844A>G	c.(844-846)AGC>GGC	p.S282G	HOXC13_uc010sop.1_Non-coding_Transcript	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	282	Homeobox.				regulation of transcription, DNA-dependent	nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0										22				0.198529	73.951669	85.450709	27	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54338891	54338891	7604	12	A	G	G	G	195	15	HOXC13	4	4
HNRNPA1	3178	broad.mit.edu	37	12	54675174	54675174	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54675174C>G	uc001sfl.2	+	c.20C>G	c.(19-21)CCT>CGT	p.P7R	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zng.2_Missense_Mutation_p.P7R|HNRNPA1_uc009znh.2_Missense_Mutation_p.P7R|HNRNPA1_uc009zni.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfn.2_Missense_Mutation_p.P7R|HNRNPA1_uc001sfo.3_Non-coding_Transcript|HNRNPA1_uc001sfp.1_5'UTR|HNRNPA1_uc009znj.1_5'Flank	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	7	Globular A domain.				interspecies interaction between organisms|mRNA transport|nuclear import|nuclear mRNA splicing, via spliceosome|RNA export from nucleus	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding|single-stranded RNA binding			ovary(1)	1						Colon(83;502 1289 8436 16406 24870)								0.333333	56.70379	58.107131	19	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54675174	54675174	7549	12	C	G	G	G	312	24	HNRNPA1	3	3
OR9K2	441639	broad.mit.edu	37	12	55523797	55523797	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55523797C>A	uc010spe.1	+	c.245C>A	c.(244-246)ACA>AAA	p.T82K		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.271028	79.625814	84.686015	29	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55523797	55523797	11665	12	C	A	A	A	221	17	OR9K2	2	2
OR6C2	341416	broad.mit.edu	37	12	55846499	55846499	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55846499G>C	uc001sgz.1	+	c.502G>C	c.(502-504)GAC>CAC	p.D168H		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.361111	44.572729	45.180747	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55846499	55846499	11601	12	G	C	C	C	585	45	OR6C2	3	3
RDH16	8608	broad.mit.edu	37	12	57346020	57346020	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57346020T>A	uc001smi.3	-	c.747A>T	c.(745-747)TCA>TCT	p.S249S	RDH16_uc009zpa.2_Silent_p.S104S	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	249	Cytoplasmic (Potential).				lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						GBM(179;741 2921 43105 45298)								0.342857	36.690242	37.453398	12	23	KEEP	---	---	---	---	capture		Silent	SNP	57346020	57346020	13663	12	T	A	A	A	704	55	RDH16	3	3
AVPR1A	552	broad.mit.edu	37	12	63543950	63543950	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63543950C>T	uc001sro.1	-	c.667G>A	c.(667-669)GGC>AGC	p.G223S		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	223	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.156863	44.701287	61.890901	24	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63543950	63543950	1252	12	C	T	T	T	299	23	AVPR1A	1	1
SRGAP1	57522	broad.mit.edu	37	12	64536211	64536211	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64536211C>T	uc010ssp.1	+	c.3017C>T	c.(3016-3018)ACG>ATG	p.T1006M	SRGAP1_uc001srv.2_Missense_Mutation_p.T943M	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1006					axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.320755	46.157092	47.669364	17	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64536211	64536211	15659	12	C	T	T	T	247	19	SRGAP1	1	1
LGR5	8549	broad.mit.edu	37	12	71977541	71977541	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71977541G>A	uc001swl.2	+	c.1751G>A	c.(1750-1752)AGA>AAA	p.R584K	LGR5_uc001swm.2_Missense_Mutation_p.R560K|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	584	Cytoplasmic (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.186441	47.177185	58.050035	22	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71977541	71977541	9083	12	G	A	A	A	429	33	LGR5	2	2
TRHDE	29953	broad.mit.edu	37	12	72680629	72680629	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72680629G>T	uc001sxa.2	+	c.948G>T	c.(946-948)TGG>TGT	p.W316C		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	316	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.341772	73.09561	74.845862	27	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72680629	72680629	17023	12	G	T	T	T	559	43	TRHDE	2	2
NAV3	89795	broad.mit.edu	37	12	78400307	78400307	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400307A>T	uc001syp.2	+	c.989A>T	c.(988-990)AAG>ATG	p.K330M	NAV3_uc001syo.2_Missense_Mutation_p.K330M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	330						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.333333	50.031271	51.360069	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78400307	78400307	10581	12	A	T	T	T	39	3	NAV3	3	3
NAV3	89795	broad.mit.edu	37	12	78574751	78574751	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78574751C>A	uc001syp.2	+	c.5618C>A	c.(5617-5619)ACC>AAC	p.T1873N	NAV3_uc001syo.2_Missense_Mutation_p.T1851N|NAV3_uc010sub.1_Missense_Mutation_p.T1330N|NAV3_uc009zsf.2_Missense_Mutation_p.T682N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1873	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.25	15.737539	17.101645	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78574751	78574751	10581	12	C	A	A	A	234	18	NAV3	2	2
GALNT4	8693	broad.mit.edu	37	12	89916936	89916936	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:89916936T>A	uc001tbd.2	-	c.1391A>T	c.(1390-1392)GAC>GTC	p.D464V	POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.D461V|GALNT4_uc010suo.1_Missense_Mutation_p.D156V	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	464	Ricin B-type lectin.|Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0														0.18	18.848792	23.660622	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89916936	89916936	6479	12	T	A	A	A	754	58	GALNT4	3	3
WNK1	65125	broad.mit.edu	37	12	994187	994187	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:994187C>T	uc001qio.3	+	c.4217C>T	c.(4216-4218)TCA>TTA	p.S1406L	WNK1_uc001qip.3_Missense_Mutation_p.S1159L|WNK1_uc001qir.3_Missense_Mutation_p.S579L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1406					intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			Colon(19;451 567 6672 12618 28860)				913				0.263889	47.488467	51.120368	19	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	994187	994187	17951	12	C	T	T	T	377	29	WNK1	2	2
MCF2L	23263	broad.mit.edu	37	13	113719264	113719264	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113719264C>T	uc001vsu.2	+	c.792C>T	c.(790-792)TTC>TTT	p.F264F	MCF2L_uc001vsq.2_Silent_p.F264F|MCF2L_uc010tjr.1_Silent_p.F207F|MCF2L_uc001vsr.2_Silent_p.F211F|MCF2L_uc001vss.3_Silent_p.F205F|MCF2L_uc010tjs.1_Silent_p.F205F|MCF2L_uc001vst.1_Silent_p.F169F	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	237					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)												0.366197	75.030862	76.148743	26	45	KEEP	---	---	---	---	capture		Silent	SNP	113719264	113719264	9768	13	C	T	T	T	402	31	MCF2L	1	1
PCID2	55795	broad.mit.edu	37	13	113838759	113838759	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113838759C>T	uc010tju.1	-	c.586G>A	c.(586-588)GAC>AAC	p.D196N	PCID2_uc001vtb.2_Missense_Mutation_p.D29N|PCID2_uc010tjv.1_Missense_Mutation_p.D196N|PCID2_uc010tjw.1_Missense_Mutation_p.D196N|PCID2_uc001vte.2_Missense_Mutation_p.D89N|PCID2_uc001vtd.2_Missense_Mutation_p.D89N|PCID2_uc001vtf.2_Missense_Mutation_p.D89N	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	196					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of gene-specific transcription|positive regulation of mitotic cell cycle spindle assembly checkpoint|regulation of mRNA stability|spleen development		protein binding|transcription activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)											0.375	52.341482	53.116362	21	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113838759	113838759	11999	13	C	T	T	T	377	29	PCID2	2	2
PABPC3	5042	broad.mit.edu	37	13	25671037	25671037	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25671037G>T	uc001upy.2	+	c.701G>T	c.(700-702)GGA>GTA	p.G234V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	234	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.173333	22.524628	30.087136	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25671037	25671037	11780	13	G	T	T	T	533	41	PABPC3	2	2
ATP8A2	51761	broad.mit.edu	37	13	26155990	26155990	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26155990G>T	uc001uqk.2	+	c.2041G>T	c.(2041-2043)GAT>TAT	p.D681Y	ATP8A2_uc010tdi.1_Missense_Mutation_p.D641Y|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.D191Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	641	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.391304	50.136883	50.613751	18	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26155990	26155990	1212	13	G	T	T	T	429	33	ATP8A2	2	2
FLT3	2322	broad.mit.edu	37	13	28578214	28578214	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28578214G>T	uc001urw.2	-	c.2957C>A	c.(2956-2958)CCG>CAG	p.P986Q	FLT3_uc010aao.2_Non-coding_Transcript|FLT3_uc010tdn.1_Missense_Mutation_p.P945Q	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	986	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8072)|ovary(2)|lung(1)|central_nervous_system(1)	8076	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)					630				0.395349	50.164779	50.577244	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28578214	28578214	6184	13	G	T	T	T	507	39	FLT3	1	1
FLT1	2321	broad.mit.edu	37	13	29001982	29001982	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29001982C>G	uc001usb.3	-	c.1183G>C	c.(1183-1185)GTA>CTA	p.V395L	FLT1_uc010aar.1_Missense_Mutation_p.V395L|FLT1_uc001usc.3_Missense_Mutation_p.V395L|FLT1_uc010tdp.1_Missense_Mutation_p.V395L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	395	Ig-like C2-type 4.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.277778	47.238444	49.615268	15	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29001982	29001982	6183	13	C	G	G	G	247	19	FLT1	3	3
MTUS2	23281	broad.mit.edu	37	13	29600034	29600034	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29600034C>T	uc001usl.3	+	c.1229C>T	c.(1228-1230)TCT>TTT	p.S410F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	400						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.263158	13.06821	14.030928	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29600034	29600034	10359	13	C	T	T	T	416	32	MTUS2	2	2
DCLK1	9201	broad.mit.edu	37	13	36699915	36699915	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36699915C>G	uc001uvf.2	-	c.360G>C	c.(358-360)CTG>CTC	p.L120L		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	120	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|protein phosphorylation|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(4)|ovary(2)	6		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)						453				0.276596	37.054123	39.165872	13	34	KEEP	---	---	---	---	capture		Silent	SNP	36699915	36699915	4462	13	C	G	G	G	262	21	DCLK1	3	3
TRPC4	7223	broad.mit.edu	37	13	38266182	38266182	+	Silent	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38266182A>T	uc010abx.2	-	c.1188T>A	c.(1186-1188)GGT>GGA	p.G396G	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Silent_p.G396G|TRPC4_uc001uws.2_Silent_p.G396G|TRPC4_uc010tey.1_Silent_p.G396G|TRPC4_uc010abw.2_Silent_p.G223G|TRPC4_uc010aby.2_Silent_p.G396G	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	396	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.463415	54.718961	54.766886	19	22	KEEP	---	---	---	---	capture		Silent	SNP	38266182	38266182	17131	13	A	T	T	T	119	10	TRPC4	3	3
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	C	C	rs112168960		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52439604G>C	uc001vfu.3	+	c.90G>C	c.(88-90)GCG>GCC	p.A30A		NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	30						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)										0.163793	40.650349	53.104828	19	97	KEEP	---	---	---	---	capture		Silent	SNP	52439604	52439604	2966	13	G	C	C	C	496	39	CCDC70	3	3
ATP7B	540	broad.mit.edu	37	13	52511514	52511514	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52511514C>A	uc001vfw.2	-	c.3919G>T	c.(3919-3921)GTG>TTG	p.V1307L	ATP7B_uc010adv.2_Missense_Mutation_p.V877L|ATP7B_uc001vfx.2_Missense_Mutation_p.V1100L|ATP7B_uc001vfy.2_Missense_Mutation_p.V1196L|ATP7B_uc010tgt.1_Missense_Mutation_p.V1242L|ATP7B_uc010tgu.1_Missense_Mutation_p.V1259L|ATP7B_uc010tgv.1_Missense_Mutation_p.V1229L|ATP7B_uc001vfv.2_Missense_Mutation_p.V579L|ATP7B_uc010tgs.1_Missense_Mutation_p.V518L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1307	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.431579	130.660377	131.048364	41	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52511514	52511514	1210	13	C	A	A	A	221	17	ATP7B	2	2
KLHL1	57626	broad.mit.edu	37	13	70535449	70535449	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70535449C>A	uc001vip.2	-	c.808G>T	c.(808-810)GCA>TCA	p.A270S	KLHL1_uc010thm.1_Missense_Mutation_p.A209S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	270	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.263158	13.073101	14.032665	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70535449	70535449	8677	13	C	A	A	A	325	25	KLHL1	2	2
KLHL1	57626	broad.mit.edu	37	13	70681521	70681521	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70681521T>G	uc001vip.2	-	c.311A>C	c.(310-312)CAG>CCG	p.Q104P	KLHL1_uc010thm.1_Missense_Mutation_p.Q104P|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	104					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.581818	105.904352	106.225019	32	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70681521	70681521	8677	13	T	G	G	G	715	55	KLHL1	4	4
CLN5	1203	broad.mit.edu	37	13	77566091	77566091	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77566091G>C	uc001vkc.2	+	c.5G>C	c.(4-6)CGC>CCC	p.R2P		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	Error:Variant_position_missing_in_O75503_after_alignment					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)										0.4	19.848683	19.979341	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77566091	77566091	3682	13	G	C	C	C	494	38	CLN5	3	3
MYCBP2	23077	broad.mit.edu	37	13	77765894	77765894	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77765894C>A	uc001vkf.2	-	c.3876G>T	c.(3874-3876)TGG>TGT	p.W1292C	MYCBP2_uc010aev.2_Missense_Mutation_p.W696C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1292					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.433333	37.969749	38.086087	13	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77765894	77765894	10413	13	C	A	A	A	234	18	MYCBP2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408231	105408231	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105408231G>A	uc010axc.1	-	c.13557C>T	c.(13555-13557)GAC>GAT	p.D4519D	AHNAK2_uc001ypx.2_Silent_p.D4419D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.195266	68.780838	83.41398	33	136	KEEP	---	---	---	---	capture		Silent	SNP	105408231	105408231	418	14	G	A	A	A	568	44	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105416868	105416868	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105416868C>G	uc010axc.1	-	c.4920G>C	c.(4918-4920)CTG>CTC	p.L1640L	AHNAK2_uc001ypx.2_Silent_p.L1540L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1640						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.197183	136.326437	160.591179	56	228	KEEP	---	---	---	---	capture		Silent	SNP	105416868	105416868	418	14	C	G	G	G	262	21	AHNAK2	3	3
AHNAK2	113146	broad.mit.edu	37	14	105419147	105419147	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105419147G>T	uc010axc.1	-	c.2641C>A	c.(2641-2643)CTC>ATC	p.L881I	AHNAK2_uc001ypx.2_Missense_Mutation_p.L781I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	881						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.211604	133.698012	156.228187	62	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105419147	105419147	418	14	G	T	T	T	455	35	AHNAK2	2	2
CHD8	57680	broad.mit.edu	37	14	21860668	21860668	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21860668C>G	uc001was.1	-	c.5932G>C	c.(5932-5934)GAT>CAT	p.D1978H	CHD8_uc001war.1_Missense_Mutation_p.D1874H|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2257					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.16129	48.316395	61.852028	20	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21860668	21860668	3465	14	C	G	G	G	416	32	CHD8	3	3
OR4E2	26686	broad.mit.edu	37	14	22133522	22133522	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22133522G>T	uc010tmd.1	+	c.226G>T	c.(226-228)GTC>TTC	p.V76F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	76	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)						64				0.164179	67.140731	88.671714	33	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22133522	22133522	11467	14	G	T	T	T	624	48	OR4E2	2	2
IRF9	10379	broad.mit.edu	37	14	24631533	24631533	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24631533G>T	uc001wmq.2	+	c.180G>T	c.(178-180)AAG>AAT	p.K60N	RNF31_uc001wmp.2_Non-coding_Transcript|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	60	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)										0.225	40.805453	46.366335	18	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24631533	24631533	8140	14	G	T	T	T	451	35	IRF9	2	2
KHNYN	23351	broad.mit.edu	37	14	24901483	24901483	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24901483G>T	uc010tpc.1	+	c.1139G>T	c.(1138-1140)CGA>CTA	p.R380L	KHNYN_uc001wph.3_Missense_Mutation_p.R339L|KHNYN_uc010alw.2_Missense_Mutation_p.R339L|CBLN3_uc001wpg.3_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	339										ovary(2)|liver(1)	3												OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.408163	118.985035	119.705739	40	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24901483	24901483	8456	14	G	T	T	T	481	37	KHNYN	1	1
NOVA1	4857	broad.mit.edu	37	14	26917884	26917884	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:26917884C>G	uc001wpy.2	-	c.805G>C	c.(805-807)GGA>CGA	p.G269R	NOVA1_uc001wpz.2_Missense_Mutation_p.G245R|NOVA1_uc001wqa.2_Missense_Mutation_p.G147R	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|liver(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.0135)						340				0.178082	28.431019	35.55319	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26917884	26917884	10958	14	C	G	G	G	299	23	NOVA1	3	3
NPAS3	64067	broad.mit.edu	37	14	34269356	34269356	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:34269356C>G	uc001wru.2	+	c.1843C>G	c.(1843-1845)CGG>GGG	p.R615G	NPAS3_uc001wrs.2_Missense_Mutation_p.R602G|NPAS3_uc001wrt.2_Missense_Mutation_p.R583G|NPAS3_uc001wrv.2_Missense_Mutation_p.R585G	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			ovary(1)	1	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)										0.347826	21.99217	22.462663	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34269356	34269356	10968	14	C	G	G	G	295	23	NPAS3	3	3
LRFN5	145581	broad.mit.edu	37	14	42355849	42355849	+	Nonsense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42355849T>A	uc001wvm.2	+	c.21T>A	c.(19-21)TAT>TAA	p.Y7*	LRFN5_uc010ana.2_Nonsense_Mutation_p.Y7*	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	7						integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.263158	13.966877	14.930367	5	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42355849	42355849	9314	14	T	A	A	A	647	50	LRFN5	5	3
DACT1	51339	broad.mit.edu	37	14	59112366	59112366	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112366T>A	uc001xdw.2	+	c.1025T>A	c.(1024-1026)ATT>AAT	p.I342N	DACT1_uc010trv.1_Missense_Mutation_p.I61N|DACT1_uc001xdx.2_Missense_Mutation_p.I305N|DACT1_uc010trw.1_Missense_Mutation_p.I61N	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	342					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.54	88.128297	88.197841	27	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59112366	59112366	4388	14	T	A	A	A	676	52	DACT1	3	3
MAP3K9	4293	broad.mit.edu	37	14	71227747	71227747	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71227747T>A	uc001xml.2	-	c.973A>T	c.(973-975)ATG>TTG	p.M325L	MAP3K9_uc010ttk.1_Missense_Mutation_p.M62L|MAP3K9_uc001xmk.2_Missense_Mutation_p.M19L|MAP3K9_uc001xmm.2_Missense_Mutation_p.M325L	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	325	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				0.536232	247.968795	248.127897	74	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71227747	71227747	9640	14	T	A	A	A	663	51	MAP3K9	3	3
DPF3	8110	broad.mit.edu	37	14	73190390	73190390	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73190390T>C	uc001xnc.2	-	c.476A>G	c.(475-477)GAG>GGG	p.E159G	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.E159G|DPF3_uc010ttq.1_Missense_Mutation_p.E169G	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)										0.502304	403.086589	403.087651	109	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73190390	73190390	4902	14	T	C	C	C	702	54	DPF3	4	4
YLPM1	56252	broad.mit.edu	37	14	75265292	75265292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75265292C>T	uc001xqj.3	+	c.3292C>T	c.(3292-3294)CAA>TAA	p.Q1098*	YLPM1_uc001xql.3_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	903	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)										0.559524	139.82396	140.081903	47	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75265292	75265292	18069	14	C	T	T	T	377	29	YLPM1	5	2
TTLL5	23093	broad.mit.edu	37	14	76211508	76211508	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76211508C>T	uc010ask.1	+	c.1394C>T	c.(1393-1395)CCA>CTA	p.P465L	TTLL5_uc001xrx.2_Missense_Mutation_p.P451L|TTLL5_uc001xrz.2_Missense_Mutation_p.P13L|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	451					protein modification process|transcription, DNA-dependent	cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)										0.391304	53.641922	54.117119	18	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76211508	76211508	17285	14	C	T	T	T	273	21	TTLL5	2	2
TTLL5	23093	broad.mit.edu	37	14	76243112	76243112	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76243112A>G	uc010ask.1	+	c.2348A>G	c.(2347-2349)AAG>AGG	p.K783R	TTLL5_uc001xrx.2_Missense_Mutation_p.K769R|TTLL5_uc001xrz.2_Missense_Mutation_p.K344R|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	769					protein modification process|transcription, DNA-dependent	cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)										0.591837	111.185572	111.546786	29	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76243112	76243112	17285	14	A	G	G	G	39	3	TTLL5	4	4
KIAA1409	57578	broad.mit.edu	37	14	94083525	94083525	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94083525C>A	uc001ybv.1	+	c.3634C>A	c.(3634-3636)CTC>ATC	p.L1212I	KIAA1409_uc001ybs.1_Missense_Mutation_p.L1190I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1367						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.196721	25.566965	30.793554	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94083525	94083525	8539	14	C	A	A	A	364	28	KIAA1409	2	2
KIAA1409	57578	broad.mit.edu	37	14	94083609	94083609	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94083609C>T	uc001ybv.1	+	c.3718C>T	c.(3718-3720)CGG>TGG	p.R1240W	KIAA1409_uc001ybs.1_Missense_Mutation_p.R1218W	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1395						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.220339	30.744028	34.992497	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94083609	94083609	8539	14	C	T	T	T	295	23	KIAA1409	1	1
SERPINA9	327657	broad.mit.edu	37	14	94936017	94936017	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94936017C>A	uc001ydf.2	-	c.215G>T	c.(214-216)CGC>CTC	p.R72L	SERPINA9_uc001yde.2_Missense_Mutation_p.R72L|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.R72L|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	54					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)										0.264706	48.733368	52.127314	18	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94936017	94936017	14583	14	C	A	A	A	351	27	SERPINA9	1	1
BCL11B	64919	broad.mit.edu	37	14	99642483	99642483	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99642483G>A	uc001yga.2	-	c.690C>T	c.(688-690)TTC>TTT	p.F230F	BCL11B_uc001ygb.2_Silent_p.F159F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	230	C2H2-type 1.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)						98				0.235294	16.173492	18.362234	8	26	KEEP	---	---	---	---	capture		Silent	SNP	99642483	99642483	1385	14	G	A	A	A	581	45	BCL11B	2	2
OR4M2	390538	broad.mit.edu	37	15	22369243	22369243	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22369243C>A	uc010tzu.1	+	c.668C>A	c.(667-669)GCC>GAC	p.A223D	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.183486	39.483154	49.69598	20	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22369243	22369243	11486	15	C	A	A	A	338	26	OR4M2	2	2
RYR3	6263	broad.mit.edu	37	15	34021153	34021153	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34021153G>T	uc001zhi.2	+	c.7129G>T	c.(7129-7131)GAT>TAT	p.D2377Y	RYR3_uc010bar.2_Missense_Mutation_p.D2377Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2377	4 X approximate repeats.|Cytoplasmic (By similarity).				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)										0.375	16.545087	16.764922	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34021153	34021153	14250	15	G	T	T	T	533	41	RYR3	2	2
DUOX2	50506	broad.mit.edu	37	15	45397883	45397883	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45397883C>G	uc010bea.2	-	c.2292G>C	c.(2290-2292)CGG>CGC	p.R764R	DUOX2_uc001zun.2_Silent_p.R764R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	764	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)										0.423913	124.409207	124.874157	39	53	KEEP	---	---	---	---	capture		Silent	SNP	45397883	45397883	4986	15	C	G	G	G	275	22	DUOX2	3	3
FBN1	2200	broad.mit.edu	37	15	48805800	48805800	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48805800T>G	uc001zwx.1	-	c.1534A>C	c.(1534-1536)ACC>CCC	p.T512P		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	512	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.184211	17.805619	21.357489	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48805800	48805800	5938	15	T	G	G	G	767	59	FBN1	4	4
CEP152	22995	broad.mit.edu	37	15	49059596	49059597	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49059596_49059597CT>TA	uc001zwz.2	-	c.2082_2083AG>TA	c.(2080-2085)TTAGCA>TTTACA	p.694_695LA>FT	CEP152_uc001zwy.2_Missense_Mutation_p.694_695LA>FT|CEP152_uc001zxa.1_Missense_Mutation_p.601_602LA>FT	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	694_695					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center				lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)										0.318182	18.716026	19.36312	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	49059596	49059597	3381	15	CT	TA	TA	TA	364	28	CEP152	2	2
GALK2	2585	broad.mit.edu	37	15	49611952	49611952	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49611952C>T	uc001zxj.1	+	c.1119C>T	c.(1117-1119)GAC>GAT	p.D373D	GALK2_uc001zxi.1_Silent_p.D362D|GALK2_uc010ufb.1_Silent_p.D349D|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Silent_p.D349D	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	373					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)										0.310345	22.762347	23.692642	9	20	KEEP	---	---	---	---	capture		Silent	SNP	49611952	49611952	6468	15	C	T	T	T	220	17	GALK2	2	2
HDC	3067	broad.mit.edu	37	15	50534774	50534775	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50534774_50534775GG>TT	uc001zxz.2	-	c.1671_1672CC>AA	c.(1669-1674)GCCCCA>GCAACA	p.P558T	HDC_uc001zxy.2_Missense_Mutation_p.P301T|HDC_uc010uff.1_Missense_Mutation_p.P525T	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	558					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.321918	138.971204	143.084381	47	99	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	50534774	50534775	7298	15	GG	TT	TT	TT	559	43	HDC	2	2
HDC	3067	broad.mit.edu	37	15	50540459	50540459	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50540459G>C	uc001zxz.2	-	c.1123C>G	c.(1123-1125)CAA>GAA	p.Q375E	HDC_uc001zxy.2_Missense_Mutation_p.Q118E|HDC_uc010uff.1_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	375					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.3125	17.269173	17.769887	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50540459	50540459	7298	15	G	C	C	C	585	45	HDC	3	3
HDC	3067	broad.mit.edu	37	15	50555455	50555455	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50555455T>A	uc001zxz.2	-	c.181A>T	c.(181-183)ATT>TTT	p.I61F	HDC_uc010uff.1_Missense_Mutation_p.I61F|HDC_uc010bet.1_Missense_Mutation_p.I61F|HDC_uc010beu.1_Missense_Mutation_p.I61F	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	61					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.272189	131.694018	139.588658	46	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50555455	50555455	7298	15	T	A	A	A	663	51	HDC	3	3
LYSMD2	256586	broad.mit.edu	37	15	52017224	52017224	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52017224A>G	uc002abi.2	-	c.368T>C	c.(367-369)TTG>TCG	p.L123S	LYSMD2_uc002abj.2_Missense_Mutation_p.L32S	NM_153374	NP_699205	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain	123					cell wall macromolecule catabolic process						0				all cancers(107;0.00258)										0.277778	29.735224	31.334267	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52017224	52017224	9502	15	A	G	G	G	65	5	LYSMD2	4	4
IGDCC4	57722	broad.mit.edu	37	15	65676637	65676637	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65676637G>T	uc002aou.1	-	c.3463C>A	c.(3463-3465)CCT>ACT	p.P1155T	IGDCC4_uc002aot.1_Missense_Mutation_p.P743T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1155	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.253333	46.786392	50.931235	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65676637	65676637	7870	15	G	T	T	T	546	42	IGDCC4	2	2
TLE3	7090	broad.mit.edu	37	15	70342515	70342515	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70342515C>T	uc002asl.2	-	c.2240G>A	c.(2239-2241)TGT>TAT	p.C747Y	TLE3_uc002ask.2_Missense_Mutation_p.C674Y|TLE3_uc010ukd.1_Missense_Mutation_p.C737Y|TLE3_uc010bik.1_Missense_Mutation_p.C328Y|TLE3_uc010bil.1_Missense_Mutation_p.C744Y|TLE3_uc002asn.2_Missense_Mutation_p.C735Y|TLE3_uc002asm.2_Missense_Mutation_p.C747Y|TLE3_uc002asp.2_Missense_Mutation_p.C739Y|TLE3_uc002aso.2_Missense_Mutation_p.C742Y	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform b	747	WD 7.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding				0														0.291262	74.406936	78.428553	30	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70342515	70342515	16470	15	C	T	T	T	221	17	TLE3	2	2
CYP1A1	1543	broad.mit.edu	37	15	75014861	75014861	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75014861G>A	uc002ayp.3	-	c.578C>T	c.(577-579)TCA>TTA	p.S193L	CYP1A1_uc010bjv.2_Intron|CYP1A1_uc010bjw.2_Intron|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Missense_Mutation_p.S193L|CYP1A1_uc010bjy.2_Missense_Mutation_p.S193L|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	193					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.333333	72.795082	74.789192	27	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75014861	75014861	4314	15	G	A	A	A	585	45	CYP1A1	2	2
CYP1A1	1543	broad.mit.edu	37	15	75014929	75014929	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75014929C>G	uc002ayp.3	-	c.510G>C	c.(508-510)CTG>CTC	p.L170L	CYP1A1_uc010bjv.2_Non-coding_Transcript|CYP1A1_uc010bjw.2_Non-coding_Transcript|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Silent_p.L170L|CYP1A1_uc010bjy.2_Silent_p.L170L|CYP1A1_uc010bjz.1_Intron	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	170					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.224299	69.64258	77.117021	24	83	KEEP	---	---	---	---	capture		Silent	SNP	75014929	75014929	4314	15	C	G	G	G	366	29	CYP1A1	3	3
MEX3B	84206	broad.mit.edu	37	15	82336941	82336941	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82336941T>A	uc002bgq.1	-	c.270A>T	c.(268-270)AAA>AAT	p.K90N		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	90	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2														0.285714	36.528187	38.548262	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82336941	82336941	9900	15	T	A	A	A	725	56	MEX3B	3	3
AP3B2	8120	broad.mit.edu	37	15	83332601	83332601	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83332601C>A	uc010uoi.1	-	c.2388G>T	c.(2386-2388)TCG>TCT	p.S796S	AP3B2_uc010uoh.1_Silent_p.S777S|AP3B2_uc010uoj.1_Silent_p.S745S|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Silent_p.S413S|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	777	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.405405	47.318676	47.607848	15	22	KEEP	---	---	---	---	capture		Silent	SNP	83332601	83332601	755	15	C	A	A	A	288	23	AP3B2	1	1
ISG20	3669	broad.mit.edu	37	15	89198743	89198743	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89198743G>A	uc002bmv.1	+	c.527G>A	c.(526-528)CGC>CAC	p.R176H	ISG20_uc002bmu.1_Non-coding_Transcript|ISG20_uc002bmw.1_Non-coding_Transcript|ISG20_uc010upn.1_Non-coding_Transcript	NM_002201	NP_002192	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease	176					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity				0	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)											0.231707	43.281665	48.689692	19	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89198743	89198743	8158	15	G	A	A	A	494	38	ISG20	1	1
MFGE8	4240	broad.mit.edu	37	15	89449995	89449995	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89449995C>A	uc002bng.3	-	c.402G>T	c.(400-402)CGG>CGT	p.R134R	MFGE8_uc002bnf.3_Silent_p.R22R|MFGE8_uc002bnh.3_Silent_p.R134R|MFGE8_uc010bnn.2_Silent_p.R126R|MFGE8_uc010upq.1_Silent_p.R90R|MFGE8_uc010upr.1_Silent_p.R134R|MFGE8_uc010bno.2_Silent_p.R90R	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	134	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)													0.343284	58.196754	59.65404	23	44	KEEP	---	---	---	---	capture		Silent	SNP	89449995	89449995	9910	15	C	A	A	A	379	30	MFGE8	2	2
RHCG	51458	broad.mit.edu	37	15	90020012	90020012	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90020012A>T	uc002bnz.2	-	c.1285T>A	c.(1285-1287)TGC>AGC	p.C429S	RHCG_uc002bny.2_Missense_Mutation_p.C200S|RHCG_uc002boa.2_Non-coding_Transcript	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	429	Cytoplasmic (Potential).				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			kidney(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)													0.28	38.728794	40.904433	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90020012	90020012	13801	15	A	T	T	T	91	7	RHCG	3	3
ANPEP	290	broad.mit.edu	37	15	90346962	90346962	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90346962G>A	uc002bop.3	-	c.1353C>T	c.(1351-1353)TCC>TCT	p.S451S		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	451	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)	3	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	NSCLC(30;827 977 2459 19669 26125)								0.24359	48.989531	53.661567	19	59	KEEP	---	---	---	---	capture		Silent	SNP	90346962	90346962	718	15	G	A	A	A	444	35	ANPEP	2	2
CLEC16A	23274	broad.mit.edu	37	16	11133706	11133706	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11133706A>G	uc002dao.2	+	c.1633A>G	c.(1633-1635)AGG>GGG	p.R545G	CLEC16A_uc002dan.3_Missense_Mutation_p.R527G	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	545								p.0?(1)		ovary(1)|central_nervous_system(1)	2														0.333333	10.594915	10.890665	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11133706	11133706	3637	16	A	G	G	G	88	7	CLEC16A	4	4
TPSD1	23430	broad.mit.edu	37	16	1306299	1306299	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1306299C>A	uc002clb.1	+	c.18C>A	c.(16-18)CCC>CCA	p.P6P	TPSD1_uc010brm.1_5'Flank	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	6					proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.236559	52.498444	58.401524	22	71	KEEP	---	---	---	---	capture		Silent	SNP	1306299	1306299	16969	16	C	A	A	A	275	22	TPSD1	2	2
PLA2G10	8399	broad.mit.edu	37	16	14766512	14766512	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14766512G>C	uc002dcq.2	-	c.450C>G	c.(448-450)CTC>CTG	p.L150L		NM_003561	NP_003552	O15496	PA2GX_HUMAN	phospholipase A2, group X precursor	150					arachidonic acid metabolic process|axon guidance|lipid catabolic process|lysophospholipid transport|phospholipid metabolic process|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of macrophage derived foam cell differentiation|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity				0														0.172222	75.619816	93.884983	31	149	KEEP	---	---	---	---	capture		Silent	SNP	14766512	14766512	12415	16	G	C	C	C	418	33	PLA2G10	3	3
PKD1	5310	broad.mit.edu	37	16	2164413	2164413	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2164413C>A	uc002cos.1	-	c.2611G>T	c.(2611-2613)GAG>TAG	p.E871*	PKD1_uc002cot.1_Nonsense_Mutation_p.E871*	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	871	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(1)	1														0.235294	18.681446	20.861342	8	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2164413	2164413	12387	16	C	A	A	A	377	29	PKD1	5	2
OTOA	146183	broad.mit.edu	37	16	21698923	21698923	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21698923A>T	uc002djh.2	+	c.589A>T	c.(589-591)ACA>TCA	p.T197S	OTOA_uc010vbj.1_Missense_Mutation_p.T118S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	197					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.192308	22.92613	27.518568	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21698923	21698923	11714	16	A	T	T	T	78	6	OTOA	3	3
PRKCB	5579	broad.mit.edu	37	16	23848711	23848711	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23848711G>T	uc002dme.2	+	c.189G>T	c.(187-189)CAG>CAT	p.Q63H	PRKCB_uc002dmd.2_Missense_Mutation_p.Q63H	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	63	Phorbol-ester/DAG-type 1.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.171429	66.993043	88.409319	36	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23848711	23848711	12951	16	G	T	T	T	451	35	PRKCB	2	2
IL4R	3566	broad.mit.edu	37	16	27375021	27375021	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27375021C>T	uc002don.2	+	c.2348C>T	c.(2347-2349)TCG>TTG	p.S783L	IL4R_uc002dop.3_Missense_Mutation_p.S768L|IL4R_uc010bxy.2_Missense_Mutation_p.S783L|IL4R_uc002doo.2_Missense_Mutation_p.S623L	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	783	Cytoplasmic (Potential).				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.168675	26.595629	35.226015	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27375021	27375021	7999	16	C	T	T	T	403	31	IL4R	1	1
SRCAP	10847	broad.mit.edu	37	16	30732215	30732216	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30732215_30732216GG>TT	uc002dze.1	+	c.3169_3170GG>TT	c.(3169-3171)GGG>TTG	p.G1057L	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.G914L|SRCAP_uc010bzz.1_Missense_Mutation_p.G627L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1057	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.170732	28.589763	36.926822	14	68	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	30732215	30732216	15649	16	GG	TT	TT	TT	507	39	SRCAP	1	1
ITGAD	3681	broad.mit.edu	37	16	31422674	31422674	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31422674C>A	uc010cap.1	+	c.1546C>A	c.(1546-1548)CAC>AAC	p.H516N	ITGAD_uc002ebv.1_Missense_Mutation_p.H515N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	515	FG-GAP 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.257895	117.789	127.882186	49	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31422674	31422674	8188	16	C	A	A	A	273	21	ITGAD	2	2
MEFV	4210	broad.mit.edu	37	16	3294475	3294475	+	Nonsense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3294475G>C	uc002cun.1	-	c.1724C>G	c.(1723-1725)TCA>TGA	p.S575*		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	575					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5					Colchicine(DB01394)									0.189474	48.090982	56.66027	18	77	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3294475	3294475	9848	16	G	C	C	C	585	45	MEFV	5	3
AXIN1	8312	broad.mit.edu	37	16	347741	347741	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:347741T>C	uc002cgp.1	-	c.1765A>G	c.(1765-1767)AGT>GGT	p.S589G	AXIN1_uc002cgq.1_Missense_Mutation_p.S589G	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	589	Interaction with RNF111.|Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription elongation from RNA polymerase II promoter|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			liver(1)	1		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)								659				0.25	16.440823	17.802657	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	347741	347741	1257	16	T	C	C	C	715	55	AXIN1	4	4
ZNF500	26048	broad.mit.edu	37	16	4802892	4802892	+	Missense_Mutation	SNP	C	A	A	rs75619376	by1000genomes	TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4802892C>A	uc002cxp.1	-	c.928G>T	c.(928-930)GGC>TGC	p.G310C	ZNF500_uc002cxo.1_Missense_Mutation_p.G102C|ZNF500_uc010uxt.1_Missense_Mutation_p.G310C	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	310					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.209877	36.942194	43.244345	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4802892	4802892	18542	16	C	A	A	A	299	23	ZNF500	1	1
COQ9	57017	broad.mit.edu	37	16	57490421	57490421	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57490421G>C	uc002elq.2	+	c.384G>C	c.(382-384)CTG>CTC	p.L128L	COQ9_uc010vhn.1_Silent_p.L128L|COQ9_uc010vho.1_Silent_p.L128L|COQ9_uc010vhp.1_Silent_p.L128L|COQ9_uc002elr.2_Silent_p.L128L|COQ9_uc002els.2_5'Flank	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	128					ubiquinone biosynthetic process	mitochondrion				breast(1)	1														0.43299	136.728885	137.109816	42	55	KEEP	---	---	---	---	capture		Silent	SNP	57490421	57490421	3889	16	G	C	C	C	600	47	COQ9	3	3
CES8	283848	broad.mit.edu	37	16	67034819	67034819	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67034819C>G	uc002eqv.2	+	c.462C>G	c.(460-462)GGC>GGG	p.G154G	CES8_uc010vix.1_Silent_p.G154G|CES8_uc002eqw.2_Silent_p.G154G|CES8_uc002eqy.2_Silent_p.G56G|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Silent_p.G56G|CES8_uc010viz.1_Silent_p.G56G	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	154					regulation of synaptic transmission	extracellular region	carboxylesterase activity				0														0.392857	38.41947	38.7008	11	17	KEEP	---	---	---	---	capture		Silent	SNP	67034819	67034819	3406	16	C	G	G	G	353	28	CES8	3	3
EXOC3L	283849	broad.mit.edu	37	16	67218614	67218614	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67218614G>C	uc002erx.1	-	c.2005C>G	c.(2005-2007)CTG>GTG	p.L669V	KIAA0895L_uc002ert.2_5'Flank|KIAA0895L_uc002eru.2_5'Flank|EXOC3L_uc002erv.1_Non-coding_Transcript|EXOC3L_uc002erw.1_Missense_Mutation_p.L320V|EXOC3L_uc002ery.1_Missense_Mutation_p.P601R|EXOC3L_uc010vje.1_Missense_Mutation_p.P596R	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	669					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)										0.206897	29.692163	34.291876	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67218614	67218614	5497	16	G	C	C	C	451	35	EXOC3L	3	3
PLA2G15	23659	broad.mit.edu	37	16	68289811	68289811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68289811G>A	uc002evr.2	+	c.645G>A	c.(643-645)TGG>TGA	p.W215*	PLA2G15_uc010vld.1_Missense_Mutation_p.E174K|PLA2G15_uc010vle.1_Nonsense_Mutation_p.W121*|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Nonsense_Mutation_p.W36*	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	215					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1														0.291667	37.232969	39.097634	14	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	68289811	68289811	12418	16	G	A	A	A	533	41	PLA2G15	5	2
TMCO7	79613	broad.mit.edu	37	16	68941453	68941453	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68941453G>T	uc002ewi.3	+	c.1775G>T	c.(1774-1776)GGA>GTA	p.G592V		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	592						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)										0.375	31.484894	31.926304	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68941453	68941453	16531	16	G	T	T	T	533	41	TMCO7	2	2
WDR90	197335	broad.mit.edu	37	16	706405	706405	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:706405G>T	uc002cii.1	+	c.2070G>T	c.(2068-2070)CGG>CGT	p.R690R	WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.R217R|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	690	WD 5.									ovary(1)	1		Hepatocellular(780;0.0218)												0.24	14.537033	16.079912	6	19	KEEP	---	---	---	---	capture		Silent	SNP	706405	706405	17911	16	G	T	T	T	548	43	WDR90	2	2
SLC38A8	146167	broad.mit.edu	37	16	84050323	84050323	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84050323C>T	uc002fhg.1	-	c.963G>A	c.(961-963)ATG>ATA	p.M321I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	321					amino acid transport|sodium ion transport	integral to membrane					0														0.333333	33.048634	34.186769	15	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84050323	84050323	15107	16	C	T	T	T	325	25	SLC38A8	2	2
MYH4	4622	broad.mit.edu	37	17	10367852	10367852	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10367852G>T	uc002gmn.2	-	c.585C>A	c.(583-585)TAC>TAA	p.Y195*		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	195	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.378378	41.940119	42.420715	14	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10367852	10367852	10432	17	G	T	T	T	464	36	MYH4	5	2
MAP2K4	6416	broad.mit.edu	37	17	12028689	12028689	+	Splice_Site_SNP	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12028689G>C	uc002gnk.2	+	c.924_splice	c.e9+1	p.L308_splice	MAP2K4_uc002gnj.2_Splice_Site_SNP_p.L297_splice|MAP2K4_uc010vvi.1_Splice_Site_SNP_p.L179_splice|MAP2K4_uc010vvj.1_Splice_Site_SNP_p.L169_splice	NM_003010	NP_003001			mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|protein phosphorylation|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(11)|large_intestine(8)|pancreas(8)|lung(7)|ovary(3)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	45		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)						195				0.425	62.873651	63.068783	17	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	12028689	12028689	9622	17	G	C	C	C	572	44	MAP2K4	5	3
RAI1	10743	broad.mit.edu	37	17	17699745	17699745	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17699745G>A	uc002grm.2	+	c.3483G>A	c.(3481-3483)CGG>CGA	p.R1161R	RAI1_uc002grn.1_Silent_p.R1161R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1161	Nuclear localization signal (Potential).					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(1115;0.0276)										0.22973	40.733651	45.691815	17	57	KEEP	---	---	---	---	capture		Silent	SNP	17699745	17699745	13467	17	G	A	A	A	522	41	RAI1	2	2
CCDC144B	284047	broad.mit.edu	37	17	18513562	18513562	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18513562C>G	uc002gub.1	-	c.459G>C	c.(457-459)CAG>CAC	p.Q153H	CCDC144B_uc002gua.3_Non-coding_Transcript|CCDC144B_uc010vyc.1_Non-coding_Transcript|CCDC144B_uc002guc.1_Missense_Mutation_p.Q153H	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2														0.16	18.366294	23.870446	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18513562	18513562	2898	17	C	G	G	G	415	32	CCDC144B	3	3
MAPK7	5598	broad.mit.edu	37	17	19282274	19282274	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19282274G>T	uc002gvn.2	+	c.61G>T	c.(61-63)GTG>TTG	p.V21L	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Intron|MAPK7_uc002gvq.2_Missense_Mutation_p.V21L|MAPK7_uc002gvp.2_Missense_Mutation_p.V21L	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	21	Required for cytoplasmic targeting (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(3)|lung(1)|skin(1)	5	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)									176				0.357143	15.271801	15.523162	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19282274	19282274	9665	17	G	T	T	T	520	40	MAPK7	1	1
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26094815G>T	uc002gzu.2	-	c.2083C>A	c.(2083-2085)CCC>ACC	p.P695T	NOS2_uc010wab.1_Missense_Mutation_p.P660T	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.219512	19.450116	22.423942	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26094815	26094815	10946	17	G	T	T	T	559	43	NOS2	2	2
SPAG5	10615	broad.mit.edu	37	17	26919437	26919437	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26919437C>T	uc002hbq.2	-	c.825G>A	c.(823-825)ATG>ATA	p.M275I	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	275					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)													0.306452	48.095614	50.170406	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26919437	26919437	15484	17	C	T	T	T	273	21	SPAG5	2	2
SPACA3	124912	broad.mit.edu	37	17	31324729	31324729	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31324729G>T	uc002hhs.1	+	c.582_splice	c.e5-1	p.W194_splice	SPACA3_uc010cte.1_Splice_Site_SNP	NM_173847	NP_776246			sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;0.193)											0.380282	76.310995	77.202396	27	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31324729	31324729	15474	17	G	T	T	T	455	35	SPACA3	5	2
ITGAE	3682	broad.mit.edu	37	17	3651249	3651249	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3651249C>G	uc002fwo.3	-	c.2122G>C	c.(2122-2124)GAA>CAA	p.E708Q		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	708	Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		NSCLC(182;635 2928 8995 38788)				37				0.205128	22.67724	25.822741	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3651249	3651249	8189	17	C	G	G	G	377	29	ITGAE	3	3
STARD3	10948	broad.mit.edu	37	17	37815304	37815304	+	Missense_Mutation	SNP	G	T	T	rs11556624	byFrequency;by1000genomes	TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37815304G>T	uc002hsd.2	+	c.647G>T	c.(646-648)GCG>GTG	p.A216V	STARD3_uc010weh.1_Non-coding_Transcript|STARD3_uc002hse.2_Missense_Mutation_p.G198V|STARD3_uc010wei.1_Missense_Mutation_p.G216V|STARD3_uc002hsf.2_Missense_Mutation_p.G82V|STARD3_uc002hsg.2_Missense_Mutation_p.W49L	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	216	MENTAL.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							607				0.287037	159.044248	167.842668	62	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37815304	37815304	15776	17	G	T	T	T	559	43	STARD3	2	2
CAMKK1	84254	broad.mit.edu	37	17	3786361	3786361	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3786361T>A	uc002fwv.2	-	c.623A>T	c.(622-624)CAC>CTC	p.H208L	CAMKK1_uc002fwt.2_Missense_Mutation_p.H208L|CAMKK1_uc002fwu.2_Missense_Mutation_p.H208L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1	208	Protein kinase.				protein phosphorylation|synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)						485				0.446429	78.17164	78.310986	25	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3786361	3786361	2723	17	T	A	A	A	767	59	CAMKK1	3	3
KRT23	25984	broad.mit.edu	37	17	39092742	39092742	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39092742C>A	uc002hvm.1	-	c.114G>T	c.(112-114)GCG>GCT	p.A38A	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A38A|KRT23_uc002hvn.1_Silent_p.A38A	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	38	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)												0.344444	88.831832	90.739174	31	59	KEEP	---	---	---	---	capture		Silent	SNP	39092742	39092742	8775	17	C	A	A	A	288	23	KRT23	1	1
KRTAP9-4	85280	broad.mit.edu	37	17	39406231	39406231	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39406231G>A	uc002hwi.2	+	c.259G>A	c.(259-261)GGG>AGG	p.G87R	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	87	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].|12.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.201149	78.180307	92.586138	35	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39406231	39406231	8898	17	G	A	A	A	611	47	KRTAP9-4	2	2
TTC25	83538	broad.mit.edu	37	17	40095333	40095333	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40095333G>T	uc002hyj.3	+	c.966G>T	c.(964-966)TTG>TTT	p.L322F	TTC25_uc010cxt.2_Non-coding_Transcript|TTC25_uc010cxs.1_Intron	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	322	TPR 5.					cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)												0.258065	20.984568	22.62939	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40095333	40095333	17247	17	G	T	T	T	620	48	TTC25	2	2
RAB5C	5878	broad.mit.edu	37	17	40280324	40280324	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40280324C>A	uc010cxx.2	-	c.495G>T	c.(493-495)GCG>GCT	p.A165A	RAB5C_uc002hyz.2_Silent_p.A132A|RAB5C_uc002hza.2_Silent_p.A132A|RAB5C_uc010cxy.2_Silent_p.A44A	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	132					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)										0.207792	34.855515	40.948869	16	61	KEEP	---	---	---	---	capture		Silent	SNP	40280324	40280324	13409	17	C	A	A	A	288	23	RAB5C	1	1
GHDC	84514	broad.mit.edu	37	17	40344578	40344578	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40344578C>T	uc002hzd.2	-	c.570G>A	c.(568-570)CTG>CTA	p.L190L	GHDC_uc002hzg.1_Silent_p.L190L|GHDC_uc010wgg.1_Silent_p.L151L|GHDC_uc002hze.3_Silent_p.L190L|GHDC_uc002hzf.3_Silent_p.L190L|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	190						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)										0.238462	66.946284	75.080838	31	99	KEEP	---	---	---	---	capture		Silent	SNP	40344578	40344578	6637	17	C	T	T	T	366	29	GHDC	2	2
UBE2G1	7326	broad.mit.edu	37	17	4186205	4186205	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4186205C>T	uc002fxs.2	-	c.438G>A	c.(436-438)AGG>AGA	p.R146R		NM_003342	NP_003333	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	146					post-translational protein modification|protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0														0.333333	8.721786	8.943299	3	6	KEEP	---	---	---	---	capture		Silent	SNP	4186205	4186205	17413	17	C	T	T	T	285	22	UBE2G1	2	2
SLC4A1	6521	broad.mit.edu	37	17	42335826	42335826	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42335826G>C	uc002igf.3	-	c.1042C>G	c.(1042-1044)CAG>GAG	p.Q348E	SLC4A1_uc002igg.3_Missense_Mutation_p.Q348E	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	348	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)										0.165517	57.102403	72.507293	24	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42335826	42335826	15147	17	G	C	C	C	585	45	SLC4A1	3	3
GPATCH8	23131	broad.mit.edu	37	17	42478467	42478467	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42478467C>T	uc002igw.1	-	c.978G>A	c.(976-978)GGG>GGA	p.G326G	GPATCH8_uc002igv.1_Silent_p.G248G|GPATCH8_uc010wiz.1_Silent_p.G248G	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	326						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)								OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.208092	79.894985	93.556975	36	137	KEEP	---	---	---	---	capture		Silent	SNP	42478467	42478467	6868	17	C	T	T	T	379	30	GPATCH8	2	2
TBX21	30009	broad.mit.edu	37	17	45822468	45822468	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45822468C>A	uc002ilv.1	+	c.1344C>A	c.(1342-1344)TTC>TTA	p.F448L		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	448					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.333333	38.975652	40.16066	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45822468	45822468	16183	17	C	A	A	A	389	30	TBX21	2	2
PNPO	55163	broad.mit.edu	37	17	46019090	46019090	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46019090G>C	uc002imo.2	+	c.49G>C	c.(49-51)GAG>CAG	p.E17Q	PNPO_uc010wkz.1_Missense_Mutation_p.E17Q|PNPO_uc010wla.1_5'UTR|PNPO_uc010wlb.1_Missense_Mutation_p.E17Q	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	pyridoxine 5'-phosphate oxidase	17					oxidation-reduction process|pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity				0					Pyridoxal Phosphate(DB00114)									0.4	7.149429	7.193034	2	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46019090	46019090	12599	17	G	C	C	C	481	37	PNPO	3	3
ABCC3	8714	broad.mit.edu	37	17	48761448	48761448	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48761448C>G	uc002isl.2	+	c.4093C>G	c.(4093-4095)CAG>GAG	p.Q1365E	ABCC3_uc002isn.2_Missense_Mutation_p.Q119E	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1365	Cytoplasmic (By similarity).|ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)					438				0.272727	36.679999	38.728702	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48761448	48761448	55	17	C	G	G	G	377	29	ABCC3	3	3
TUBD1	51174	broad.mit.edu	37	17	57958297	57958297	+	Silent	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57958297T>G	uc002ixw.1	-	c.495A>C	c.(493-495)TCA>TCC	p.S165S	TUBD1_uc010ddf.1_Silent_p.S165S|TUBD1_uc010ddg.1_Silent_p.S130S|TUBD1_uc010ddh.1_Silent_p.S46S|TUBD1_uc010wok.1_Silent_p.S165S|TUBD1_uc002ixx.1_Silent_p.S165S|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	165					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)											0.352941	183.608748	186.524585	54	99	KEEP	---	---	---	---	capture		Silent	SNP	57958297	57958297	17317	17	T	G	G	G	652	51	TUBD1	4	4
BCAS3	54828	broad.mit.edu	37	17	58786579	58786579	+	Splice_Site_SNP	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58786579G>A	uc002iyv.3	+	c.215_splice	c.e5-1	p.D72_splice	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_SNP_p.D72_splice|BCAS3_uc002iyw.3_Splice_Site_SNP_p.D68_splice	NM_001099432	NP_001092902			breast carcinoma amplified sequence 3 isoform 1							nucleus				ovary(2)|central_nervous_system(2)	4			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)											0.255814	30.003342	32.32949	11	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58786579	58786579	1373	17	G	A	A	A	429	33	BCAS3	5	2
SLC13A5	284111	broad.mit.edu	37	17	6606404	6606404	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6606404G>T	uc002gdj.2	-	c.601C>A	c.(601-603)CGG>AGG	p.R201R	SLC13A5_uc010vtf.1_Silent_p.R201R|SLC13A5_uc010clq.2_Silent_p.R158R|SLC13A5_uc002gdk.2_Silent_p.R184R|SLC13A5_uc002gdl.1_Silent_p.R183R	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	201						integral to membrane	citrate transmembrane transporter activity				0														0.413043	118.034329	118.64163	38	54	KEEP	---	---	---	---	capture		Silent	SNP	6606404	6606404	14890	17	G	T	T	T	493	38	SLC13A5	1	1
SDK2	54549	broad.mit.edu	37	17	71427710	71427711	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71427710_71427711CC>AT	uc010dfm.2	-	c.1410_1411GG>AT	c.(1408-1413)GCGGGG>GCATGG	p.G471W	SDK2_uc010dfn.2_Missense_Mutation_p.G150W	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	471	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.241525	132.844564	147.237831	57	179	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71427710	71427711	14455	17	CC	AT	AT	AT	286	22	SDK2	2	2
LLGL2	3993	broad.mit.edu	37	17	73567113	73567113	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73567113G>T	uc002joh.2	+	c.2108G>T	c.(2107-2109)CGC>CTC	p.R703L	LLGL2_uc002joi.2_Missense_Mutation_p.R703L|LLGL2_uc010dgg.1_Missense_Mutation_p.R703L|LLGL2_uc002joj.2_Missense_Mutation_p.R692L|LLGL2_uc010wsd.1_Missense_Mutation_p.R330L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	703					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)											0.410448	171.516693	172.45032	55	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73567113	73567113	9163	17	G	T	T	T	494	38	LLGL2	1	1
EXOC7	23265	broad.mit.edu	37	17	74094015	74094015	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74094015C>A	uc002jqs.2	-	c.502G>T	c.(502-504)GTG>TTG	p.V168L	EXOC7_uc010dgv.1_Missense_Mutation_p.V115L|EXOC7_uc002jqq.2_Missense_Mutation_p.V168L|EXOC7_uc010wsw.1_Missense_Mutation_p.V168L|EXOC7_uc010wsx.1_Missense_Mutation_p.V168L|EXOC7_uc002jqr.2_Missense_Mutation_p.V168L|EXOC7_uc010wsv.1_Missense_Mutation_p.V127L|EXOC7_uc002jqu.2_Missense_Mutation_p.V168L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	168					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)											0.192	56.83181	67.90308	24	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74094015	74094015	5503	17	C	A	A	A	247	19	EXOC7	1	1
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578550G>C	uc002gim.2	-	c.380C>G	c.(379-381)TCC>TGC	p.S127C	TP53_uc002gig.1_Missense_Mutation_p.S127C|TP53_uc002gih.2_Missense_Mutation_p.S127C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127C|TP53_uc010cni.1_Missense_Mutation_p.S127C|TP53_uc002gij.2_Missense_Mutation_p.S127C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34C|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	127	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (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.S127F(18)|p.S127Y(8)|p.0?(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(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	(CORL279-Tumor)|p.S127F(SNU410-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.5625	67.35618	67.465598	18	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578550	7578550	16923	17	G	C	C	C	533	41	TP53	3	3
TBC1D16	125058	broad.mit.edu	37	17	77987324	77987324	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77987324C>A	uc002jxj.2	-	c.23G>T	c.(22-24)CGC>CTC	p.R8L		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	8						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			Ovarian(14;397 562 4850 31922 49378)								0.428571	9.124069	9.155174	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77987324	77987324	16127	17	C	A	A	A	351	27	TBC1D16	1	1
SLC38A10	124565	broad.mit.edu	37	17	79234101	79234101	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79234101C>T	uc002jzz.1	-	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	SLC38A10_uc002jzy.1_Missense_Mutation_p.A327T|SLC38A10_uc002kab.2_Missense_Mutation_p.A409T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	409					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)											0.5	31.249101	31.249101	10	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79234101	79234101	15099	17	C	T	T	T	364	28	SLC38A10	2	2
ROCK1	6093	broad.mit.edu	37	18	18550453	18550453	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:18550453C>A	uc002kte.2	-	c.2676G>T	c.(2674-2676)TTG>TTT	p.L892F		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	892	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.346154	25.86646	26.410109	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18550453	18550453	13996	18	C	A	A	A	272	21	ROCK1	2	2
ANKRD29	147463	broad.mit.edu	37	18	21214028	21214028	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21214028T>C	uc002kun.2	-	c.416A>G	c.(415-417)CAT>CGT	p.H139R	ANKRD29_uc002kuo.2_Missense_Mutation_p.H139R	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	139	ANK 4.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)													0.225	24.055403	26.833323	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21214028	21214028	662	18	T	C	C	C	663	51	ANKRD29	4	4
HRH4	59340	broad.mit.edu	37	18	22040786	22040786	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22040786G>T	uc002kvi.2	+	c.94G>T	c.(94-96)GGA>TGA	p.G32*	HRH4_uc010xbd.1_Nonsense_Mutation_p.G32*|HRH4_uc010dlx.2_Nonsense_Mutation_p.G32*	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	histamine H4 receptor isoform 1	32	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	histamine receptor activity			ovary(2)	2	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)									0.352113	71.451658	72.82213	25	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22040786	22040786	7650	18	G	T	T	T	455	35	HRH4	5	2
ZNF521	25925	broad.mit.edu	37	18	22807148	22807148	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22807148G>T	uc002kvk.2	-	c.734C>A	c.(733-735)ACT>AAT	p.T245N	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.T245N|ZNF521_uc002kvl.2_Missense_Mutation_p.T25N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	245					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.357143	61.683782	62.690751	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22807148	22807148	18559	18	G	T	T	T	468	36	ZNF521	2	2
CDH2	1000	broad.mit.edu	37	18	25589787	25589787	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25589787C>A	uc002kwg.2	-	c.596G>T	c.(595-597)GGG>GTG	p.G199V	CDH2_uc010xbn.1_Missense_Mutation_p.G168V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	199	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.220339	27.738339	31.99206	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25589787	25589787	3234	18	C	A	A	A	286	22	CDH2	2	2
DSG4	147409	broad.mit.edu	37	18	28993526	28993526	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28993526C>A	uc002kwr.2	+	c.3148C>A	c.(3148-3150)CGA>AGA	p.R1050R	DSG4_uc002kwq.2_Silent_p.R1031R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	1031	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.444444	65.412412	65.529919	20	25	KEEP	---	---	---	---	capture		Silent	SNP	28993526	28993526	4963	18	C	A	A	A	243	19	DSG4	1	1
DTNA	1837	broad.mit.edu	37	18	32438301	32438301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32438301C>T	uc010dmn.1	+	c.1504C>T	c.(1504-1506)CAG>TAG	p.Q502*	DTNA_uc010xbx.1_Nonsense_Mutation_p.Q252*|DTNA_uc002kxv.3_Nonsense_Mutation_p.Q445*|DTNA_uc002kxw.2_Nonsense_Mutation_p.Q445*|DTNA_uc010dmj.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxz.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kxy.2_Nonsense_Mutation_p.Q442*|DTNA_uc010dml.2_Nonsense_Mutation_p.Q442*|DTNA_uc002kyb.3_Nonsense_Mutation_p.Q499*|DTNA_uc010dmm.2_Nonsense_Mutation_p.Q502*|DTNA_uc010xby.1_Nonsense_Mutation_p.Q192*|DTNA_uc010dmo.2_Nonsense_Mutation_p.Q124*|DTNA_uc002kyd.3_Nonsense_Mutation_p.Q124*|DTNA_uc010xbz.1_Nonsense_Mutation_p.Q211*|DTNA_uc010xca.1_Nonsense_Mutation_p.Q154*|DTNA_uc002kye.2_Nonsense_Mutation_p.Q150*	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	502	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.175439	19.127135	24.781359	10	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32438301	32438301	4973	18	C	T	T	T	377	29	DTNA	5	2
ELP2	55250	broad.mit.edu	37	18	33734940	33734940	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:33734940G>T	uc010xcg.1	+	c.1448G>T	c.(1447-1449)TGG>TTG	p.W483L	ELP2_uc002kzk.1_Missense_Mutation_p.W418L|ELP2_uc002kzl.1_Non-coding_Transcript|ELP2_uc002kzm.1_Missense_Mutation_p.W392L|ELP2_uc010xch.1_Missense_Mutation_p.W413L|ELP2_uc002kzn.1_Missense_Mutation_p.W348L|ELP2_uc002kzo.1_Missense_Mutation_p.W348L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	418	WD 8.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|nucleolus|transcription elongation factor complex	RNA polymerase II transcription elongation factor activity			breast(2)|skin(1)	3														0.382353	37.565636	37.978788	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33734940	33734940	5272	18	G	T	T	T	611	47	ELP2	2	2
SETBP1	26040	broad.mit.edu	37	18	42530068	42530068	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42530068G>C	uc010dni.2	+	c.763G>C	c.(763-765)GAG>CAG	p.E255Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	255						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.243243	82.67211	89.339563	27	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42530068	42530068	14617	18	G	C	C	C	585	45	SETBP1	3	3
SLC14A2	8170	broad.mit.edu	37	18	43223121	43223121	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43223121C>T	uc010dnj.2	+	c.1151C>T	c.(1150-1152)GCA>GTA	p.A384V	SLC14A2_uc002lbb.2_Missense_Mutation_p.A384V|SLC14A2_uc002lbe.2_Missense_Mutation_p.A384V	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	384	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.228571	18.079572	20.446657	8	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43223121	43223121	14892	18	C	T	T	T	325	25	SLC14A2	2	2
ST8SIA3	51046	broad.mit.edu	37	18	55024197	55024197	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55024197A>G	uc002lgn.2	+	c.356A>G	c.(355-357)AAT>AGT	p.N119S		NM_015879	NP_056963	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide	119	Lumenal (Potential).				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)	1				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)										0.25	31.532624	33.803457	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55024197	55024197	15751	18	A	G	G	G	52	4	ST8SIA3	4	4
SERPINB4	6318	broad.mit.edu	37	18	61305166	61305166	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61305166G>A	uc002ljf.2	-	c.960C>T	c.(958-960)AGC>AGT	p.S320S	SERPINB4_uc002lje.2_Silent_p.S299S|SERPINB4_uc002ljg.2_Silent_p.S320S	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	320					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.257143	21.655722	23.529232	9	26	KEEP	---	---	---	---	capture		Silent	SNP	61305166	61305166	14591	18	G	A	A	A	542	42	SERPINB4	2	2
LRRC30	339291	broad.mit.edu	37	18	7231811	7231811	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7231811G>T	uc010wzk.1	+	c.675G>T	c.(673-675)CCG>CCT	p.P225P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	225	LRR 7.									ovary(1)|liver(1)	2														0.230769	35.691225	40.009137	15	50	KEEP	---	---	---	---	capture		Silent	SNP	7231811	7231811	9360	18	G	T	T	T	470	37	LRRC30	1	1
ZNF516	9658	broad.mit.edu	37	18	74091694	74091694	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74091694G>A	uc010dqx.1	-	c.2376C>T	c.(2374-2376)CCC>CCT	p.P792P	ZNF516_uc002lme.2_Non-coding_Transcript|ZNF516_uc002lmd.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)										0.212121	16.805591	19.334414	7	26	KEEP	---	---	---	---	capture		Silent	SNP	74091694	74091694	18554	18	G	A	A	A	548	43	ZNF516	2	2
SALL3	27164	broad.mit.edu	37	18	76754521	76754521	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:76754521G>T	uc002lmt.2	+	c.2530G>T	c.(2530-2532)GAG>TAG	p.E844*	SALL3_uc010dra.2_Nonsense_Mutation_p.E451*	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)										0.204545	17.846656	21.41448	9	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76754521	76754521	14292	18	G	T	T	T	533	41	SALL3	5	2
ANGPTL6	83854	broad.mit.edu	37	19	10205580	10205580	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10205580G>T	uc002mmx.1	-	c.617C>A	c.(616-618)CCG>CAG	p.P206Q	ANGPTL6_uc002mmy.1_Missense_Mutation_p.P206Q	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	206					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)											0.527778	58.22657	58.250803	19	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10205580	10205580	621	19	G	T	T	T	507	39	ANGPTL6	1	1
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10602328C>T	uc002moq.1	-	c.1250G>A	c.(1249-1251)GGG>GAG	p.G417E	KEAP1_uc002mop.1_Missense_Mutation_p.G135E|KEAP1_uc002mor.1_Missense_Mutation_p.G417E	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417	Kelch 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.541667	40.775635	40.811731	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10602328	10602328	8447	19	C	T	T	T	286	22	KEAP1	2	2
ACP5	54	broad.mit.edu	37	19	11687567	11687568	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11687567_11687568GA>AT	uc002msg.3	-	c.352_353TC>AT	c.(352-354)TCT>ATT	p.S118I	ACP5_uc002msh.3_Missense_Mutation_p.S118I|ACP5_uc002msi.3_Missense_Mutation_p.S118I|ACP5_uc002msj.3_Missense_Mutation_p.S118I|ACP5_uc010dye.1_3'UTR	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	118					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1														0.168224	35.240402	46.352275	18	89	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	11687567	11687568	165	19	GA	AT	AT	AT	429	33	ACP5	2	2
ZNF491	126069	broad.mit.edu	37	19	11917571	11917571	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11917571A>T	uc002mso.1	+	c.803A>T	c.(802-804)GAG>GTG	p.E268V		NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.510638	71.694305	71.698785	24	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11917571	11917571	18536	19	A	T	T	T	143	11	ZNF491	3	3
ZNF799	90576	broad.mit.edu	37	19	12502558	12502558	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12502558C>A	uc010dyt.2	-	c.654G>T	c.(652-654)ACG>ACT	p.T218T	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	218	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)	5														0.448276	79.642693	79.777771	26	32	KEEP	---	---	---	---	capture		Silent	SNP	12502558	12502558	18764	19	C	A	A	A	340	27	ZNF799	1	1
RFX1	5989	broad.mit.edu	37	19	14077445	14077445	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14077445C>T	uc002mxv.2	-	c.1851G>A	c.(1849-1851)GAG>GAA	p.E617E		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	617					immune response|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulator activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)											0.4	82.237075	82.805609	26	39	KEEP	---	---	---	---	capture		Silent	SNP	14077445	14077445	13734	19	C	T	T	T	311	24	RFX1	2	2
CLEC17A	388512	broad.mit.edu	37	19	14710889	14710889	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14710889C>G	uc010dzo.1	+	c.789C>G	c.(787-789)GGC>GGG	p.G263G	CLEC17A_uc002mzh.1_Silent_p.G246G|CLEC17A_uc010xnt.1_Non-coding_Transcript|CLEC17A_uc010dzn.1_Silent_p.G263G|CLEC17A_uc010xnu.1_Intron	NM_207390	NP_997273	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0														0.291667	46.032565	47.897227	14	34	KEEP	---	---	---	---	capture		Silent	SNP	14710889	14710889	3638	19	C	G	G	G	314	25	CLEC17A	3	3
PCSK4	54760	broad.mit.edu	37	19	1483437	1483437	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1483437T>C	uc002ltb.1	-	c.1417A>G	c.(1417-1419)AGG>GGG	p.R473G	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Missense_Mutation_p.R285G	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	473					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.568627	98.481963	98.691384	29	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1483437	1483437	12023	19	T	C	C	C	713	55	PCSK4	4	4
BRD4	23476	broad.mit.edu	37	19	15366997	15366997	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15366997C>G	uc002nar.2	-	c.1629G>C	c.(1627-1629)AAG>AAC	p.K543N	BRD4_uc002nas.2_Missense_Mutation_p.K543N|BRD4_uc002nat.3_Missense_Mutation_p.K543N|BRD4_uc002nau.3_Missense_Mutation_p.K543N	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	543	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)							269				0.235294	49.466008	53.822353	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15366997	15366997	1535	19	C	G	G	G	415	32	BRD4	3	3
FCHO1	23149	broad.mit.edu	37	19	17893966	17893966	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17893966C>A	uc002nhg.3	+	c.2078C>A	c.(2077-2079)GCC>GAC	p.A693D	FCHO1_uc010ebb.2_Missense_Mutation_p.A693D|FCHO1_uc002nhh.2_Missense_Mutation_p.A693D|FCHO1_uc010xpw.1_Missense_Mutation_p.A643D|FCHO1_uc002nhi.2_Missense_Mutation_p.A149D|FCHO1_uc002nhj.2_Missense_Mutation_p.A37D	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	FCH domain only 1 isoform a	693										breast(1)	1														0.442308	67.816038	67.967192	23	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17893966	17893966	6024	19	C	A	A	A	338	26	FCHO1	2	2
ZNF676	163223	broad.mit.edu	37	19	22363185	22363185	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363185C>A	uc002nqs.1	-	c.1334G>T	c.(1333-1335)GGA>GTA	p.G445V		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.288136	42.546575	44.924047	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363185	22363185	18678	19	C	A	A	A	390	30	ZNF676	2	2
ZNF254	9534	broad.mit.edu	37	19	24310356	24310356	+	Nonsense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:24310356C>G	uc002nru.2	+	c.1554C>G	c.(1552-1554)TAC>TAG	p.Y518*	ZNF254_uc010xrk.1_Nonsense_Mutation_p.Y433*	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	518	C2H2-type 12.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)												0.464286	46.172741	46.203833	13	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24310356	24310356	18389	19	C	G	G	G	220	17	ZNF254	5	3
ZNF554	115196	broad.mit.edu	37	19	2832300	2832300	+	Splice_Site_SNP	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2832300G>A	uc002lwm.2	+	c.254_splice	c.e4-1	p.E85_splice	ZNF554_uc002lwl.2_Splice_Site_SNP_p.E34_splice	NM_001102651	NP_001096121			zinc finger protein 554						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.609375	134.237553	134.907412	39	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2832300	2832300	18580	19	G	A	A	A	429	33	ZNF554	5	2
TSHZ3	57616	broad.mit.edu	37	19	31769448	31769448	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769448A>G	uc002nsy.3	-	c.1251T>C	c.(1249-1251)TCT>TCC	p.S417S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	417					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.306122	120.528497	125.515995	45	102	KEEP	---	---	---	---	capture		Silent	SNP	31769448	31769448	17176	19	A	G	G	G	80	7	TSHZ3	4	4
MAG	4099	broad.mit.edu	37	19	35804322	35804322	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35804322G>C	uc002nyy.1	+	c.1846G>C	c.(1846-1848)GAG>CAG	p.E616Q	MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Missense_Mutation_p.E591Q|MAG_uc002nyz.1_Missense_Mutation_p.E616Q	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	616	Cytoplasmic (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)											0.196429	28.89098	33.700513	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35804322	35804322	9539	19	G	C	C	C	533	41	MAG	3	3
ZFP36	7538	broad.mit.edu	37	19	39898382	39898382	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39898382G>T	uc002olh.1	+	c.25_splice	c.e2-1	p.S9_splice	ZFP36_uc010egn.1_Intron	NM_003407	NP_003398			zinc finger protein 36, C3H type, homolog						positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			NSCLC(67;1164 1324 12056 21056 30097)								0.348624	300.92798	307.551158	114	213	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	39898382	39898382	18233	19	G	T	T	T	429	33	ZFP36	5	2
PLEKHG2	64857	broad.mit.edu	37	19	39914254	39914254	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39914254C>T	uc010xuz.1	+	c.2560C>T	c.(2560-2562)CAG>TAG	p.Q854*	PLEKHG2_uc010xuy.1_Nonsense_Mutation_p.Q795*|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Nonsense_Mutation_p.Q632*	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	854					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)											0.34375	30.513643	31.204503	11	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39914254	39914254	12495	19	C	T	T	T	273	21	PLEKHG2	5	2
ARHGEF1	9138	broad.mit.edu	37	19	42407924	42407924	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42407924G>T	uc002osa.2	+	c.1950G>T	c.(1948-1950)CTG>CTT	p.L650L	ARHGEF1_uc002orx.2_Silent_p.L635L|ARHGEF1_uc002ory.2_Silent_p.L602L|ARHGEF1_uc002orz.2_Silent_p.L473L|ARHGEF1_uc002osb.2_Silent_p.L617L|ARHGEF1_uc002osc.2_Silent_p.L389L|ARHGEF1_uc002osd.2_Silent_p.L294L|ARHGEF1_uc002ose.2_Silent_p.L79L	NM_199002	NP_945353	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	635					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)										0.351852	50.506511	51.552828	19	35	KEEP	---	---	---	---	capture		Silent	SNP	42407924	42407924	907	19	G	T	T	T	574	45	ARHGEF1	2	2
POU2F2	5452	broad.mit.edu	37	19	42621437	42621437	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42621437C>A	uc002osp.2	-	c.268G>T	c.(268-270)GCC>TCC	p.A90S	POU2F2_uc002osn.2_Missense_Mutation_p.A90S|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Missense_Mutation_p.A90S|POU2F2_uc002osr.1_Missense_Mutation_p.A90S	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	90					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2		Prostate(69;0.059)												0.241935	70.190203	77.721446	30	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42621437	42621437	12702	19	C	A	A	A	338	26	POU2F2	2	2
ZNF526	116115	broad.mit.edu	37	19	42730041	42730041	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42730041G>C	uc002osz.1	+	c.1486G>C	c.(1486-1488)GGT>CGT	p.G496R		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)												0.188119	40.857304	50.062904	19	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42730041	42730041	18561	19	G	C	C	C	559	43	ZNF526	3	3
CIC	23152	broad.mit.edu	37	19	42791043	42791043	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42791043G>T	uc002otf.1	+	c.188G>T	c.(187-189)AGC>ATC	p.S63I		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)	8		Prostate(69;0.00682)								241				0.283019	38.200164	40.443059	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42791043	42791043	3558	19	G	T	T	T	442	34	CIC	2	2
PSG2	5670	broad.mit.edu	37	19	43576091	43576092	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43576091_43576092GG>TT	uc010eiq.1	-	c.724_725CC>AA	c.(724-726)CCC>AAC	p.P242N	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.P242N|PSG2_uc002ovq.3_Missense_Mutation_p.P242N|PSG2_uc002ovs.3_Missense_Mutation_p.P242N|PSG2_uc002ovt.3_Missense_Mutation_p.P242N	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	242	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.236842	69.763758	76.981444	27	87	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43576091	43576092	13108	19	GG	TT	TT	TT	559	43	PSG2	2	2
GPR4	2828	broad.mit.edu	37	19	46094344	46094344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46094344C>A	uc002pcm.2	-	c.781G>T	c.(781-783)GAG>TAG	p.E261*	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	261	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		Esophageal Squamous(117;181 1612 1673 14956 42937)								0.371795	85.254453	86.380921	29	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46094344	46094344	6969	19	C	A	A	A	403	31	GPR4	5	1
NOVA2	4858	broad.mit.edu	37	19	46443465	46443465	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46443465C>A	uc002pdv.2	-	c.1135G>T	c.(1135-1137)GGC>TGC	p.G379C		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	379	Ala-rich.|Gly-rich.					nucleus	RNA binding				0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)										0.357143	14.471598	14.723039	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46443465	46443465	10959	19	C	A	A	A	299	23	NOVA2	1	1
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47193890C>A	uc010xye.1	-	c.1776G>T	c.(1774-1776)GAG>GAT	p.E592D	PRKD2_uc002pfd.2_5'Flank|PRKD2_uc010eks.2_5'UTR|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.E112D|PRKD2_uc002pff.2_Missense_Mutation_p.E112D|PRKD2_uc002pfg.2_Missense_Mutation_p.E435D|PRKD2_uc002pfh.2_Missense_Mutation_p.E592D|PRKD2_uc002pfi.2_Missense_Mutation_p.E592D|PRKD2_uc002pfj.2_Missense_Mutation_p.E592D|PRKD2_uc002pfk.2_Missense_Mutation_p.E435D	NM_016457	NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)						242				0.161616	26.032613	36.821649	16	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47193890	47193890	12962	19	C	A	A	A	415	32	PRKD2	2	2
PLA2G4C	8605	broad.mit.edu	37	19	48578088	48578088	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48578088G>A	uc010xzd.1	-	c.972C>T	c.(970-972)CTC>CTT	p.L324L	PLA2G4C_uc002phw.2_Silent_p.L249L|PLA2G4C_uc002phx.2_Silent_p.L314L|PLA2G4C_uc010elr.2_Silent_p.L314L	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 2 precursor	314	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)	1		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)										0.177778	65.08768	82.689096	32	148	KEEP	---	---	---	---	capture		Silent	SNP	48578088	48578088	12429	19	G	A	A	A	470	37	PLA2G4C	1	1
PLEKHA4	57664	broad.mit.edu	37	19	49340593	49340593	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49340593C>T	uc002pkx.2	-	c.2293G>A	c.(2293-2295)GAG>AAG	p.E765K	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	765						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)										0.186667	28.105343	35.004563	14	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49340593	49340593	12484	19	C	T	T	T	403	31	PLEKHA4	1	1
PTOV1	53635	broad.mit.edu	37	19	50360333	50360333	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50360333C>T	uc002pqf.1	+	c.660C>T	c.(658-660)TAC>TAT	p.Y220Y	PTOV1_uc002ppz.3_Non-coding_Transcript|PTOV1_uc002pqb.3_Silent_p.Y188Y|PTOV1_uc002pqa.2_Non-coding_Transcript|PTOV1_uc002pqc.1_Non-coding_Transcript|PTOV1_uc002pqd.2_Non-coding_Transcript|PTOV1_uc002pqe.1_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	220	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)										0.190647	108.879037	133.699909	53	225	KEEP	---	---	---	---	capture		Silent	SNP	50360333	50360333	13224	19	C	T	T	T	246	19	PTOV1	1	1
PNKP	11284	broad.mit.edu	37	19	50368512	50368512	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50368512G>C	uc002pqh.2	-	c.370C>G	c.(370-372)CTG>GTG	p.L124V	PNKP_uc002pqg.2_5'UTR|PNKP_uc002pqi.2_Missense_Mutation_p.L85V|PNKP_uc002pqj.2_Missense_Mutation_p.L124V|PNKP_uc010enm.2_Missense_Mutation_p.L124V|PNKP_uc002pqk.2_Missense_Mutation_p.L124V	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	124					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)										0.171875	27.284859	33.795919	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50368512	50368512	12573	19	G	C	C	C	425	33	PNKP	3	3
ZNF473	25888	broad.mit.edu	37	19	50549823	50549823	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50549823G>A	uc002prn.2	+	c.2123G>A	c.(2122-2124)GGG>GAG	p.G708E	ZNF473_uc002prm.2_Missense_Mutation_p.G708E|ZNF473_uc010ybo.1_Missense_Mutation_p.G696E	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	708	C2H2-type 15.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)										0.185185	32.77293	40.303154	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50549823	50549823	18525	19	G	A	A	A	559	43	ZNF473	2	2
MYBPC2	4606	broad.mit.edu	37	19	50945490	50945490	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50945490C>A	uc002psf.2	+	c.822C>A	c.(820-822)ATC>ATA	p.I274I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	274	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)										0.416667	14.07206	14.145	5	7	KEEP	---	---	---	---	capture		Silent	SNP	50945490	50945490	10407	19	C	A	A	A	369	29	MYBPC2	2	2
CD33	945	broad.mit.edu	37	19	51738435	51738435	+	Missense_Mutation	SNP	G	T	T	rs1051198		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51738435G>T	uc002pwa.2	+	c.769G>T	c.(769-771)GTG>TTG	p.V257L	CD33_uc010eos.1_Missense_Mutation_p.V257L|CD33_uc010eot.1_Missense_Mutation_p.V130L|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	257	Extracellular (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.3	41.60396	43.391723	15	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51738435	51738435	3133	19	G	T	T	T	468	36	CD33	2	2
CD33	945	broad.mit.edu	37	19	51742776	51742776	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51742776C>A	uc002pwa.2	+	c.928C>A	c.(928-930)CAC>AAC	p.H310N	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.H183N|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	310	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.409091	27.472403	27.630731	9	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51742776	51742776	3133	19	C	A	A	A	221	17	CD33	2	2
SIGLEC12	89858	broad.mit.edu	37	19	51994903	51994903	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51994903G>T	uc002pwx.1	-	c.1780C>A	c.(1780-1782)CCC>ACC	p.P594T	SIGLEC12_uc002pww.1_Missense_Mutation_p.P476T|SIGLEC12_uc010eoy.1_Missense_Mutation_p.P321T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	594	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)	3		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)										0.351852	100.610884	102.704449	38	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51994903	51994903	14803	19	G	T	T	T	559	43	SIGLEC12	2	2
SIGLEC14	100049587	broad.mit.edu	37	19	52147285	52147285	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52147285C>A	uc002pxf.3	-	c.759G>T	c.(757-759)CTG>CTT	p.L253L		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	253	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)										0.388889	20.72037	20.915263	7	11	KEEP	---	---	---	---	capture		Silent	SNP	52147285	52147285	14804	19	C	A	A	A	314	25	SIGLEC14	2	2
FPR3	2359	broad.mit.edu	37	19	52327146	52327146	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52327146T>A	uc002pxt.1	+	c.145T>A	c.(145-147)TGG>AGG	p.W49R		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	49	Helical; Name=1; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.430233	111.547551	111.914917	37	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52327146	52327146	6286	19	T	A	A	A	715	55	FPR3	3	3
ZNF649	65251	broad.mit.edu	37	19	52394608	52394608	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52394608G>C	uc002pxy.2	-	c.781C>G	c.(781-783)CCA>GCA	p.P261A	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)										0.230769	54.109086	59.289558	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52394608	52394608	18659	19	G	C	C	C	572	44	ZNF649	3	3
PPP2R1A	5518	broad.mit.edu	37	19	52719320	52719320	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52719320G>T	uc002pyp.2	+	c.986G>T	c.(985-987)TGC>TTC	p.C329F	PPP2R1A_uc010ydk.1_Missense_Mutation_p.C274F|PPP2R1A_uc010epm.1_Missense_Mutation_p.C369F|PPP2R1A_uc002pyq.2_Missense_Mutation_p.C150F	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	329	PP2A subunit B binding.|HEAT 9.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(24)|ovary(17)|breast(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	47				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)										0.232558	24.526022	27.343517	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52719320	52719320	12818	19	G	T	T	T	598	46	PPP2R1A	2	2
C19orf51	352909	broad.mit.edu	37	19	55677957	55677957	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55677957C>T	uc002qjl.1	-	c.60G>A	c.(58-60)GTG>GTA	p.V20V	C19orf51_uc002qji.1_5'Flank|C19orf51_uc002qjj.1_Silent_p.V20V|C19orf51_uc002qjk.1_5'UTR	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	hypothetical protein LOC352909	Error:Variant_position_missing_in_Q8N9W5_after_alignment											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)										0.173653	48.262162	65.069782	29	138	KEEP	---	---	---	---	capture		Silent	SNP	55677957	55677957	1997	19	C	T	T	T	314	25	C19orf51	2	2
ZNF628	89887	broad.mit.edu	37	19	55993190	55993190	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55993190C>T	uc002qld.2	+	c.618C>T	c.(616-618)CCC>CCT	p.P206P		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	206	C2H2-type 7.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)										0.363636	11.096408	11.276612	4	7	KEEP	---	---	---	---	capture		Silent	SNP	55993190	55993190	18647	19	C	T	T	T	262	21	ZNF628	2	2
NLRP4	147945	broad.mit.edu	37	19	56382250	56382250	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56382250G>A	uc002qmd.3	+	c.2412G>A	c.(2410-2412)CTG>CTA	p.L804L	NLRP4_uc002qmf.2_Silent_p.L729L|NLRP4_uc010etf.2_Silent_p.L579L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	804							ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.246154	36.564107	40.380771	16	49	KEEP	---	---	---	---	capture		Silent	SNP	56382250	56382250	10882	19	G	A	A	A	587	46	NLRP4	2	2
NLRP5	126206	broad.mit.edu	37	19	56544115	56544115	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56544115G>C	uc002qmj.2	+	c.2415G>C	c.(2413-2415)CTG>CTC	p.L805L	NLRP5_uc002qmi.2_Silent_p.L786L	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	805						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.175	53.79948	65.754102	21	99	KEEP	---	---	---	---	capture		Silent	SNP	56544115	56544115	10883	19	G	C	C	C	574	45	NLRP5	3	3
ZIM3	114026	broad.mit.edu	37	19	57649865	57649865	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57649865C>G	uc002qnz.1	-	c.117G>C	c.(115-117)GAG>GAC	p.E39D		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.190476	42.94934	50.472212	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57649865	57649865	18276	19	C	G	G	G	415	32	ZIM3	3	3
ZNF416	55659	broad.mit.edu	37	19	58087249	58087249	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58087249C>A	uc002qpf.2	-	c.125G>T	c.(124-126)TGG>TTG	p.W42L	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.342593	104.638161	107.004272	37	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58087249	58087249	18486	19	C	A	A	A	273	21	ZNF416	2	2
ZSCAN18	65982	broad.mit.edu	37	19	58598331	58598331	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58598331C>A	uc010yht.1	-	c.855G>T	c.(853-855)TGG>TGT	p.W285C	ZSCAN18_uc002qrj.3_Missense_Mutation_p.W229C|ZSCAN18_uc010yhs.1_Missense_Mutation_p.W94C|ZSCAN18_uc002qri.2_Missense_Mutation_p.W229C|ZSCAN18_uc002qrh.2_Missense_Mutation_p.W229C|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	229					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.214286	33.089642	38.364669	15	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58598331	58598331	18834	19	C	A	A	A	286	22	ZSCAN18	2	2
MUC16	94025	broad.mit.edu	37	19	8982214	8982214	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8982214G>T	uc002mkp.2	-	c.42061C>A	c.(42061-42063)CAT>AAT	p.H14021N	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.H838N|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14046	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														0.333333	36.861212	37.82103	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8982214	8982214	10367	19	G	T	T	T	611	47	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9072073	9072073	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9072073C>A	uc002mkp.2	-	c.15373G>T	c.(15373-15375)GAG>TAG	p.E5125*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5127	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														0.433333	109.80501	110.154857	39	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9072073	9072073	10367	19	C	A	A	A	416	32	MUC16	5	2
COL11A1	1301	broad.mit.edu	37	1	103487276	103487276	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103487276G>C	uc001dum.2	-	c.1331C>G	c.(1330-1332)GCA>GGA	p.A444G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.A432G|COL11A1_uc001dun.2_Missense_Mutation_p.A393G|COL11A1_uc009weh.2_Missense_Mutation_p.A316G	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	432	Triple-helical region (interrupted).				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)										0.277778	32.034021	33.633703	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103487276	103487276	3805	1	G	C	C	C	598	46	COL11A1	3	3
AMY2B	280	broad.mit.edu	37	1	104114738	104114738	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:104114738C>T	uc001duq.2	+	c.175C>T	c.(175-177)CCA>TCA	p.P59S	AMY2B_uc010ouo.1_Non-coding_Transcript|LOC648740_uc001dur.2_Missense_Mutation_p.P59S	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	59					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)										0.195652	20.346377	24.319857	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104114738	104114738	598	1	C	T	T	T	390	30	AMY2B	2	2
AMY2B	280	broad.mit.edu	37	1	104120405	104120405	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:104120405G>T	uc001duq.2	+	c.1284G>T	c.(1282-1284)GGG>GGT	p.G428G	AMY2B_uc010ouo.1_Non-coding_Transcript|LOC648740_uc001dur.2_Silent_p.G428G|AMY2B_uc001dus.1_Non-coding_Transcript	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	428					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)										0.205128	32.049965	38.34792	16	62	KEEP	---	---	---	---	capture		Silent	SNP	104120405	104120405	598	1	G	T	T	T	522	41	AMY2B	2	2
VAV3	10451	broad.mit.edu	37	1	108307757	108307757	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108307757C>T	uc010ouw.1	-	c.862G>A	c.(862-864)GCC>ACC	p.A288T	VAV3_uc001dvk.1_Missense_Mutation_p.A288T|VAV3_uc001dvl.1_Missense_Mutation_p.A112T|VAV3_uc010oux.1_Missense_Mutation_p.A288T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	288	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.26087	14.639661	15.830457	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108307757	108307757	17698	1	C	T	T	T	364	28	VAV3	2	2
AHCYL1	10768	broad.mit.edu	37	1	110551679	110551679	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110551679G>A	uc001dyx.2	+	c.144G>A	c.(142-144)ATG>ATA	p.M48I	AHCYL1_uc010ovw.1_Missense_Mutation_p.M1I|AHCYL1_uc001dyy.2_Missense_Mutation_p.M1I|AHCYL1_uc010ovx.1_Missense_Mutation_p.M1I	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	48					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)										0.222222	17.177921	19.736029	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110551679	110551679	413	1	G	A	A	A	598	46	AHCYL1	2	2
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11087442C>T	uc001aru.2	-	c.1561G>A	c.(1561-1563)GAA>AAA	p.E521K		NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GBM(35;611 746 20780 22741 36496)								0.522388	213.34109	213.39873	70	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11087442	11087442	9707	1	C	T	T	T	377	29	MASP2	2	2
KCNA2	3737	broad.mit.edu	37	1	111147283	111147283	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111147283C>G	uc001dzu.2	-	c.122G>C	c.(121-123)GGG>GCG	p.G41A	KCNA2_uc009wfv.1_Missense_Mutation_p.G41A|KCNA2_uc009wfw.2_Missense_Mutation_p.G41A	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	41						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		Pancreas(18;568 735 10587 23710 36357)								0.233333	119.152936	132.836359	49	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111147283	111147283	8308	1	C	G	G	G	286	22	KCNA2	3	3
ADORA3	140	broad.mit.edu	37	1	112031646	112031646	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112031646T>G	uc001ebf.2	-	c.458A>C	c.(457-459)GAT>GCT	p.D153A	ADORA3_uc001ebg.3_Missense_Mutation_p.D72A	NM_020683	NP_065734	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 1	278	Helical; Name=7; (By similarity).				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)	3		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)									0.242424	23.586194	25.580452	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112031646	112031646	330	1	T	G	G	G	650	50	ADORA3	4	4
MTOR	2475	broad.mit.edu	37	1	11297963	11297963	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11297963C>A	uc001asd.2	-	c.2145G>T	c.(2143-2145)GTG>GTT	p.V715V		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	715					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.425926	66.516686	66.774869	23	31	KEEP	---	---	---	---	capture		Silent	SNP	11297963	11297963	10347	1	C	A	A	A	262	21	MTOR	2	2
PTGFRN	5738	broad.mit.edu	37	1	117491979	117491979	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117491979G>T	uc001egv.1	+	c.998G>T	c.(997-999)CGG>CTG	p.R333L		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	333	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)										0.246575	47.031189	51.287359	18	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117491979	117491979	13205	1	G	T	T	T	507	39	PTGFRN	1	1
VPS13D	55187	broad.mit.edu	37	1	12374318	12374318	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12374318G>A	uc001atv.2	+	c.7082G>A	c.(7081-7083)TGT>TAT	p.C2361Y	VPS13D_uc001atw.2_Missense_Mutation_p.C2361Y|VPS13D_uc001atx.2_Missense_Mutation_p.C1549Y|VPS13D_uc001aty.1_Missense_Mutation_p.C99Y	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2361				C -> R (in Ref. 6; CAE46021).	protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.44	31.92055	31.999137	11	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12374318	12374318	17759	1	G	A	A	A	624	48	VPS13D	2	2
RPRD2	23248	broad.mit.edu	37	1	150437062	150437062	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150437062A>G	uc009wlr.2	+	c.1471A>G	c.(1471-1473)AGT>GGT	p.S491G	RPRD2_uc010pcc.1_Missense_Mutation_p.S465G|RPRD2_uc001eup.3_Missense_Mutation_p.S465G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	491	Ser-rich.						protein binding			ovary(1)	1												OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.571429	24.700989	24.763175	8	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150437062	150437062	14096	1	A	G	G	G	91	7	RPRD2	4	4
SETDB1	9869	broad.mit.edu	37	1	150935522	150935522	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150935522C>G	uc001evu.2	+	c.3364C>G	c.(3364-3366)CAG>GAG	p.Q1122E	SETDB1_uc001evv.2_Missense_Mutation_p.Q1122E|SETDB1_uc009wmg.1_Missense_Mutation_p.Q1122E	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1122	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)							452				0.425926	78.517097	78.775308	23	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150935522	150935522	14627	1	C	G	G	G	377	29	SETDB1	3	3
TCHHL1	126637	broad.mit.edu	37	1	152059275	152059275	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152059275T>C	uc001ezo.1	-	c.883A>G	c.(883-885)AGA>GGA	p.R295G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	295							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)											0.496855	587.263684	587.266289	158	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152059275	152059275	16227	1	T	C	C	C	726	56	TCHHL1	4	4
TCHH	7062	broad.mit.edu	37	1	152083697	152083697	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152083697C>G	uc001ezp.2	-	c.1996G>C	c.(1996-1998)GAG>CAG	p.E666Q	TCHH_uc009wne.1_Missense_Mutation_p.E666Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	666	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.372549	189.937115	192.120022	57	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152083697	152083697	16226	1	C	G	G	G	416	32	TCHH	3	3
FLG	2312	broad.mit.edu	37	1	152281538	152281538	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152281538G>T	uc001ezu.1	-	c.5824C>A	c.(5824-5826)CAT>AAT	p.H1942N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1942	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.420513	724.329846	727.560334	246	339	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152281538	152281538	6160	1	G	T	T	T	611	47	FLG	2	2
KPRP	448834	broad.mit.edu	37	1	152733553	152733553	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152733553A>T	uc001fal.1	+	c.1489A>T	c.(1489-1491)AGC>TGC	p.S497C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	497	Pro-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.576642	248.617492	249.315878	79	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152733553	152733553	8751	1	A	T	T	T	91	7	KPRP	3	3
C1orf61	10485	broad.mit.edu	37	1	156384530	156384530	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156384530C>G	uc001fou.1	-	c.87G>C	c.(85-87)GCG>GCC	p.A29A	C1orf61_uc001fov.1_Non-coding_Transcript|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Non-coding_Transcript|C1orf61_uc001foy.1_Non-coding_Transcript	NM_006365	NP_006356	Q13536	CROC4_HUMAN	transcriptional activator of the c-fos promoter	29						nucleus					0	Hepatocellular(266;0.158)													0.238095	14.968992	16.281442	5	16	KEEP	---	---	---	---	capture		Silent	SNP	156384530	156384530	2126	1	C	G	G	G	288	23	C1orf61	3	3
TTC24	164118	broad.mit.edu	37	1	156554719	156554719	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156554719G>T	uc009wsc.1	+	c.462G>T	c.(460-462)GAG>GAT	p.E154D		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	434							binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.692308	28.078512	28.506566	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156554719	156554719	17246	1	G	T	T	T	451	35	TTC24	2	2
MIB2	142678	broad.mit.edu	37	1	1565853	1565853	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1565853C>G	uc001agg.2	+	c.2985C>G	c.(2983-2985)CTC>CTG	p.L995L	MIB2_uc001agh.2_Silent_p.L981L|MIB2_uc001agi.2_Silent_p.L991L|MIB2_uc001agj.2_Silent_p.L836L|MIB2_uc001agk.2_Silent_p.L930L|MIB2_uc001agm.2_3'UTR|MIB2_uc010nyq.1_Silent_p.L951L|MIB2_uc009vkh.2_Silent_p.L801L|MIB2_uc001agn.2_Silent_p.L627L|MIB2_uc001ago.2_Silent_p.L78L|MMP23B_uc001agp.2_5'Flank|MMP23B_uc001agq.2_5'Flank|MMP23B_uc001agr.2_5'Flank|MMP23B_uc009vki.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	995	RING-type 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)										0.333333	18.544654	18.987138	6	12	KEEP	---	---	---	---	capture		Silent	SNP	1565853	1565853	9957	1	C	G	G	G	366	29	MIB2	3	3
BCAN	63827	broad.mit.edu	37	1	156618623	156618623	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156618623C>T	uc001fpp.2	+	c.1033C>T	c.(1033-1035)CAC>TAC	p.H345Y	BCAN_uc001fpo.2_Missense_Mutation_p.H345Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	345	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.526066	311.168141	311.290132	111	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156618623	156618623	1366	1	C	T	T	T	325	25	BCAN	2	2
SH2D2A	9047	broad.mit.edu	37	1	156776986	156776986	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156776986A>C	uc009wsh.2	-	c.1184T>G	c.(1183-1185)CTT>CGT	p.L395R	SH2D2A_uc001fqc.1_Missense_Mutation_p.L357R|SH2D2A_uc001fqd.2_Missense_Mutation_p.L385R|SH2D2A_uc001fqe.2_Missense_Mutation_p.L367R|SH2D2A_uc010phs.1_Missense_Mutation_p.L385R	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	385	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.410853	152.034687	152.933896	53	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156776986	156776986	14723	1	A	C	C	C	39	3	SH2D2A	4	4
SH2D2A	9047	broad.mit.edu	37	1	156776988	156776988	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156776988G>A	uc009wsh.2	-	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	SH2D2A_uc001fqc.1_Silent_p.P356P|SH2D2A_uc001fqd.2_Silent_p.P384P|SH2D2A_uc001fqe.2_Silent_p.P366P|SH2D2A_uc010phs.1_Silent_p.P384P	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 1	384	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									2				0.403101	163.07287	164.132551	52	77	KEEP	---	---	---	---	capture		Silent	SNP	156776988	156776988	14723	1	G	A	A	A	548	43	SH2D2A	2	2
FCRL4	83417	broad.mit.edu	37	1	157551323	157551323	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157551323G>T	uc001fqw.2	-	c.1247C>A	c.(1246-1248)TCA>TAA	p.S416*	FCRL4_uc010phy.1_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	416	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)	3	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)								315				0.534483	95.531306	95.591852	31	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	157551323	157551323	6034	1	G	T	T	T	585	45	FCRL4	5	2
CASQ1	844	broad.mit.edu	37	1	160164856	160164856	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160164856G>C	uc010pja.1	+	c.520G>C	c.(520-522)GAG>CAG	p.E174Q		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	168						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.666667	134.168704	135.423103	34	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160164856	160164856	2799	1	G	C	C	C	585	45	CASQ1	3	3
DCAF8	50717	broad.mit.edu	37	1	160209914	160209914	+	Nonsense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160209914G>C	uc010pjc.1	-	c.758C>G	c.(757-759)TCA>TGA	p.S253*	DCAF8_uc001fvo.2_Nonsense_Mutation_p.S99*|DCAF8_uc001fvn.2_Nonsense_Mutation_p.S99*|DCAF8_uc009wth.2_Nonsense_Mutation_p.S99*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.S99*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.S99*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.S99*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	99					protein ubiquitination	CUL4 RING ubiquitin ligase complex	protein binding				0														0.446809	71.869983	71.985739	21	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160209914	160209914	4447	1	G	C	C	C	585	45	DCAF8	5	3
HSPA6	3310	broad.mit.edu	37	1	161495729	161495729	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161495729C>A	uc001gap.2	+	c.1281C>A	c.(1279-1281)ACC>ACA	p.T427T	HSPA6_uc001gaq.2_Silent_p.T427T	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	427					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)											0.607595	149.312965	150.113665	48	31	KEEP	---	---	---	---	capture		Silent	SNP	161495729	161495729	7714	1	C	A	A	A	275	22	HSPA6	2	2
F5	2153	broad.mit.edu	37	1	169528470	169528470	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169528470C>T	uc001ggg.1	-	c.651G>A	c.(649-651)GTG>GTA	p.V217V	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	217	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.509804	74.667689	74.670196	26	25	KEEP	---	---	---	---	capture		Silent	SNP	169528470	169528470	5542	1	C	T	T	T	210	17	F5	2	2
FMO1	2326	broad.mit.edu	37	1	171250036	171250036	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171250036C>A	uc009wvz.2	+	c.739C>A	c.(739-741)CTC>ATC	p.L247I	FMO1_uc010pme.1_Missense_Mutation_p.L184I|FMO1_uc001ghl.2_Missense_Mutation_p.L247I|FMO1_uc001ghm.2_Missense_Mutation_p.L247I|FMO1_uc001ghn.2_Missense_Mutation_p.L247I	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	247					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.186441	21.986719	27.425045	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171250036	171250036	6196	1	C	A	A	A	312	24	FMO1	2	2
KLHL20	27252	broad.mit.edu	37	1	173703396	173703396	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173703396G>C	uc001gjc.2	+	c.568G>C	c.(568-570)GAC>CAC	p.D190H	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.D172H|KLHL20_uc001gjd.2_Missense_Mutation_p.D190H	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	190	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1						GBM(159;862 2695 6559 23041)								0.382353	45.768891	46.180945	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173703396	173703396	8687	1	G	C	C	C	429	33	KLHL20	3	3
PADI2	11240	broad.mit.edu	37	1	17431488	17431488	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17431488C>A	uc001baf.2	-	c.161G>T	c.(160-162)CGT>CTT	p.R54L	PADI2_uc010ocm.1_Missense_Mutation_p.R54L|PADI2_uc001bag.1_Missense_Mutation_p.R54L	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	54					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)									0.644068	131.268195	132.348404	38	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17431488	17431488	11794	1	C	A	A	A	247	19	PADI2	1	1
RFWD2	64326	broad.mit.edu	37	1	175957454	175957454	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175957454G>A	uc001gku.1	-	c.1942C>T	c.(1942-1944)CTG>TTG	p.L648L	RFWD2_uc001gkv.1_Silent_p.L624L|RFWD2_uc001gkw.1_Silent_p.L408L|RFWD2_uc009wwv.2_Silent_p.L447L|RFWD2_uc001gkt.1_Silent_p.L487L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	648	WD 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(134;1413 1765 5706 35534 51541)								0.393939	40.868278	41.193154	13	20	KEEP	---	---	---	---	capture		Silent	SNP	175957454	175957454	13732	1	G	A	A	A	451	35	RFWD2	2	2
ASTN1	460	broad.mit.edu	37	1	176838157	176838157	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176838157G>T	uc001glc.2	-	c.3470C>A	c.(3469-3471)GCA>GAA	p.A1157E	ASTN1_uc001glb.1_Missense_Mutation_p.A1157E|ASTN1_uc001gld.1_Missense_Mutation_p.A1157E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1165					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.642857	59.557191	60.060392	18	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176838157	176838157	1083	1	G	T	T	T	598	46	ASTN1	2	2
ABL2	27	broad.mit.edu	37	1	179077723	179077723	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179077723C>G	uc001gmj.3	-	c.2679G>C	c.(2677-2679)AAG>AAC	p.K893N	ABL2_uc010pnf.1_Missense_Mutation_p.K790N|ABL2_uc010png.1_Missense_Mutation_p.K769N|ABL2_uc010pnh.1_Missense_Mutation_p.K872N|ABL2_uc001gmg.3_Missense_Mutation_p.K775N|ABL2_uc001gmi.3_Missense_Mutation_p.K878N|ABL2_uc001gmh.3_Missense_Mutation_p.K857N|ABL2_uc010pne.1_Missense_Mutation_p.K754N	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	893	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|breast(2)|central_nervous_system(1)	9					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)					285				0.434211	112.665927	112.952419	33	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179077723	179077723	94	1	C	G	G	G	415	32	ABL2	3	3
FAM5C	339479	broad.mit.edu	37	1	190068179	190068179	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190068179G>T	uc001gse.1	-	c.1270C>A	c.(1270-1272)CAC>AAC	p.H424N	FAM5C_uc010pot.1_Missense_Mutation_p.H322N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	424						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.305556	29.609117	30.824552	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190068179	190068179	5817	1	G	T	T	T	598	46	FAM5C	2	2
UBR4	23352	broad.mit.edu	37	1	19491400	19491400	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19491400G>C	uc001bbi.2	-	c.4404C>G	c.(4402-4404)CTC>CTG	p.L1468L	UBR4_uc001bbm.1_Silent_p.L679L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1468					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)										0.339286	124.813547	127.372184	38	74	KEEP	---	---	---	---	capture		Silent	SNP	19491400	19491400	17462	1	G	C	C	C	574	45	UBR4	3	3
PRELP	5549	broad.mit.edu	37	1	203455883	203455883	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203455883C>T	uc001gzs.2	+	c.1023C>T	c.(1021-1023)GAC>GAT	p.D341D	PRELP_uc001gzt.2_Silent_p.D341D	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	341	LRR 11.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)											0.291667	38.330538	40.196625	14	34	KEEP	---	---	---	---	capture		Silent	SNP	203455883	203455883	12916	1	C	T	T	T	259	20	PRELP	2	2
GOLT1A	127845	broad.mit.edu	37	1	204183019	204183019	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204183019C>G	uc001has.1	-	c.16G>C	c.(16-18)GAA>CAA	p.E6Q	GOLT1A_uc001hat.1_Missense_Mutation_p.E6Q	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	golgi transport 1 homolog A	6	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane					0	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)											0.2	16.333454	18.843724	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204183019	204183019	6843	1	C	G	G	G	403	31	GOLT1A	3	3
FAM43B	163933	broad.mit.edu	37	1	20879649	20879649	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20879649G>A	uc001bdj.2	+	c.183G>A	c.(181-183)CAG>CAA	p.Q61Q		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	61											0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)										0.318182	19.81806	20.464054	7	15	KEEP	---	---	---	---	capture		Silent	SNP	20879649	20879649	5784	1	G	A	A	A	425	33	FAM43B	2	2
KIF17	57576	broad.mit.edu	37	1	21036154	21036154	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21036154G>A	uc001bdr.3	-	c.648C>T	c.(646-648)ATC>ATT	p.I216I	KIF17_uc001bds.3_Silent_p.I216I	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	216	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)	3		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)										0.185185	29.171897	36.703894	15	66	KEEP	---	---	---	---	capture		Silent	SNP	21036154	21036154	8590	1	G	A	A	A	577	45	KIF17	2	2
PTPN14	5784	broad.mit.edu	37	1	214551349	214551349	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214551349G>A	uc001hkk.1	-	c.2641C>T	c.(2641-2643)CGG>TGG	p.R881W	PTPN14_uc010pty.1_Missense_Mutation_p.R782W	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	881						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		Colon(92;557 1424 24372 34121 40073)								0.383562	71.765929	72.638844	28	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214551349	214551349	13238	1	G	A	A	A	493	38	PTPN14	1	1
PTPN14	5784	broad.mit.edu	37	1	214557780	214557780	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214557780T>A	uc001hkk.1	-	c.1418A>T	c.(1417-1419)AAC>ATC	p.N473I	PTPN14_uc010pty.1_Missense_Mutation_p.N374I	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	473						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		Colon(92;557 1424 24372 34121 40073)								0.483146	387.848715	387.914844	129	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214557780	214557780	13238	1	T	A	A	A	780	60	PTPN14	3	3
USH2A	7399	broad.mit.edu	37	1	216348824	216348824	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216348824G>A	uc001hku.1	-	c.4397C>T	c.(4396-4398)GCA>GTA	p.A1466V	USH2A_uc001hkv.2_Missense_Mutation_p.A1466V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1466	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)										0.268293	26.604177	28.593088	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216348824	216348824	17598	1	G	A	A	A	598	46	USH2A	2	2
HSPG2	3339	broad.mit.edu	37	1	22180713	22180713	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22180713T>A	uc009vqd.2	-	c.6415A>T	c.(6415-6417)ACC>TCC	p.T2139S	HSPG2_uc001bfj.2_Missense_Mutation_p.T2138S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2138	Ig-like C2-type 6.				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)									0.333333	9.022918	9.243865	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22180713	22180713	7730	1	T	A	A	A	767	59	HSPG2	3	3
HSPG2	3339	broad.mit.edu	37	1	22211041	22211041	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22211041T>C	uc009vqd.2	-	c.1637A>G	c.(1636-1638)GAC>GGC	p.D546G	HSPG2_uc001bfj.2_Missense_Mutation_p.D545G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	545	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)	8		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)									0.206897	99.408618	113.256031	36	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22211041	22211041	7730	1	T	C	C	C	754	58	HSPG2	4	4
C1orf69	200205	broad.mit.edu	37	1	228363178	228363178	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228363178A>G	uc001hsl.3	+	c.1035A>G	c.(1033-1035)GCA>GCG	p.A345A	C1orf69_uc010pvw.1_Silent_p.A152A	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)												0.418919	199.339887	200.184949	62	86	KEEP	---	---	---	---	capture		Silent	SNP	228363178	228363178	2132	1	A	G	G	G	93	8	C1orf69	4	4
OBSCN	84033	broad.mit.edu	37	1	228559464	228559464	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228559464C>G	uc009xez.1	+	c.20985C>G	c.(20983-20985)ATC>ATG	p.I6995M	OBSCN_uc001hsr.1_Missense_Mutation_p.I1624M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6995	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.509804	93.551751	93.556017	26	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228559464	228559464	11217	1	C	G	G	G	369	29	OBSCN	3	3
TARBP1	6894	broad.mit.edu	37	1	234593467	234593467	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234593467G>A	uc001hwd.2	-	c.1668C>T	c.(1666-1668)CTC>CTT	p.L556L		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	556					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)											0.548387	54.37653	54.439472	17	14	KEEP	---	---	---	---	capture		Silent	SNP	234593467	234593467	16076	1	G	A	A	A	574	45	TARBP1	2	2
ACTN2	88	broad.mit.edu	37	1	236918345	236918345	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236918345C>T	uc001hyf.2	+	c.2001C>T	c.(1999-2001)ATC>ATT	p.I667I	ACTN2_uc001hyg.2_Silent_p.I459I|ACTN2_uc009xgi.1_Silent_p.I667I|ACTN2_uc010pxu.1_Silent_p.I356I|ACTN2_uc001hyh.2_Silent_p.I355I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	667	Spectrin 4.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.178082	48.750633	63.007918	26	120	KEEP	---	---	---	---	capture		Silent	SNP	236918345	236918345	206	1	C	T	T	T	369	29	ACTN2	2	2
RYR2	6262	broad.mit.edu	37	1	237753224	237753224	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237753224A>G	uc001hyl.1	+	c.3730A>G	c.(3730-3732)AAC>GAC	p.N1244D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1244	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)											0.390244	54.493703	54.925397	16	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237753224	237753224	14249	1	A	G	G	G	13	1	RYR2	4	4
C1orf101	257044	broad.mit.edu	37	1	244716037	244716037	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244716037G>A	uc001iam.2	+	c.950G>A	c.(949-951)GGA>GAA	p.G317E	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.G317E|C1orf101_uc010pym.1_Missense_Mutation_p.G166E|C1orf101_uc010pyn.1_Missense_Mutation_p.G250E	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	317	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)											0.545455	136.055861	136.194165	42	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	244716037	244716037	2043	1	G	A	A	A	533	41	C1orf101	2	2
PANK4	55229	broad.mit.edu	37	1	2451331	2451331	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2451331C>T	uc001ajm.1	-	c.762G>A	c.(760-762)GTG>GTA	p.V254V	PANK4_uc010nza.1_Silent_p.V215V	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	254					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			large_intestine(1)|ovary(1)	2	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)										0.545455	17.950184	17.96989	6	5	KEEP	---	---	---	---	capture		Silent	SNP	2451331	2451331	11836	1	C	T	T	T	314	25	PANK4	2	2
AHCTF1	25909	broad.mit.edu	37	1	247065962	247065962	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247065962C>T	uc001ibv.1	-	c.1009G>A	c.(1009-1011)GAA>AAA	p.E337K	AHCTF1_uc001ibu.1_Missense_Mutation_p.E328K	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	328	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			Colon(145;197 1800 4745 15099 26333)								0.185185	28.773572	36.304814	15	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247065962	247065962	411	1	C	T	T	T	377	29	AHCTF1	2	2
OR2W5	441932	broad.mit.edu	37	1	247654775	247654775	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247654775G>A	uc001icz.1	+	c.346G>A	c.(346-348)GTT>ATT	p.V116I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.40458	157.246346	158.289877	53	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247654775	247654775	11440	1	G	A	A	A	572	44	OR2W5	2	2
OR2C3	81472	broad.mit.edu	37	1	247695646	247695646	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695646G>T	uc009xgy.2	-	c.168C>A	c.(166-168)CTC>CTA	p.L56L	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	56	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.5	132.892962	132.892962	45	45	KEEP	---	---	---	---	capture		Silent	SNP	247695646	247695646	11399	1	G	T	T	T	522	41	OR2C3	2	2
OR13G1	441933	broad.mit.edu	37	1	247836167	247836167	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247836167G>T	uc001idi.1	-	c.177C>A	c.(175-177)TTC>TTA	p.F59L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.583333	40.180112	40.337357	14	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247836167	247836167	11348	1	G	T	T	T	529	41	OR13G1	2	2
OR2W3	343171	broad.mit.edu	37	1	248059305	248059305	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059305G>T	uc001idp.1	+	c.417G>T	c.(415-417)AGG>AGT	p.R139S	OR2W3_uc010pzb.1_Missense_Mutation_p.R139S	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.530864	129.392557	129.457336	43	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059305	248059305	11439	1	G	T	T	T	542	42	OR2W3	2	2
OR2M2	391194	broad.mit.edu	37	1	248343411	248343411	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343411A>T	uc010pzf.1	+	c.124A>T	c.(124-126)AAC>TAC	p.N42Y		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	42	Helical; Name=1; (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)											0.495536	325.446444	325.449681	111	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343411	248343411	11416	1	A	T	T	T	13	1	OR2M2	3	3
OR2T34	127068	broad.mit.edu	37	1	248737412	248737412	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248737412A>G	uc001iep.1	-	c.647T>C	c.(646-648)ATC>ACC	p.I216T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.216667	73.795357	82.671777	26	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248737412	248737412	11431	1	A	G	G	G	156	12	OR2T34	4	4
OR2T27	403239	broad.mit.edu	37	1	248813783	248813783	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813783G>C	uc010pzo.1	-	c.403C>G	c.(403-405)CTC>GTC	p.L135V		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.594595	71.854669	72.143503	22	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248813783	248813783	11427	1	G	C	C	C	455	35	OR2T27	3	3
ZNF692	55657	broad.mit.edu	37	1	249144947	249144947	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249144947C>A	uc010pzr.1	-	c.1202G>T	c.(1201-1203)CGG>CTG	p.R401L	ZNF692_uc001iez.1_Missense_Mutation_p.R118L|ZNF692_uc001ifa.1_Missense_Mutation_p.R118L|ZNF692_uc001ifb.1_Missense_Mutation_p.R192L|ZNF692_uc001ifc.1_Missense_Mutation_p.R396L|ZNF692_uc001ifd.1_Missense_Mutation_p.R395L|ZNF692_uc001ife.1_Non-coding_Transcript|ZNF692_uc001iff.1_Missense_Mutation_p.R351L	NM_001136036	NP_001129508	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 1	396	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				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)											0.211268	37.586911	43.059288	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	249144947	249144947	18692	1	C	A	A	A	299	23	ZNF692	1	1
MMEL1	79258	broad.mit.edu	37	1	2535350	2535350	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2535350C>T	uc001ajy.2	-	c.1014G>A	c.(1012-1014)GAG>GAA	p.E338E	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	338	Lumenal (Potential).				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity				0	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)										0.207921	52.41645	60.398718	21	80	KEEP	---	---	---	---	capture		Silent	SNP	2535350	2535350	10036	1	C	T	T	T	311	24	MMEL1	2	2
GPR3	2827	broad.mit.edu	37	1	27720714	27720714	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27720714C>T	uc001bod.2	+	c.412C>T	c.(412-414)CTG>TTG	p.L138L		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	138	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane					0		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)										0.447761	186.903526	187.218295	60	74	KEEP	---	---	---	---	capture		Silent	SNP	27720714	27720714	6961	1	C	T	T	T	415	32	GPR3	2	2
PTPRU	10076	broad.mit.edu	37	1	29609316	29609316	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29609316G>T	uc001bru.2	+	c.1997G>T	c.(1996-1998)GGG>GTG	p.G666V	PTPRU_uc001brv.2_Missense_Mutation_p.G666V|PTPRU_uc001brw.2_Missense_Mutation_p.G666V|PTPRU_uc009vtq.2_Missense_Mutation_p.G666V|PTPRU_uc009vtr.2_Missense_Mutation_p.G666V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	666	Extracellular (Potential).|Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)						874				0.425926	129.323632	129.842157	46	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29609316	29609316	13271	1	G	T	T	T	559	43	PTPRU	2	2
PUM1	9698	broad.mit.edu	37	1	31425212	31425212	+	Splice_Site_SNP	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31425212T>G	uc001bsk.1	-	c.2700_splice	c.e16-1	p.R900_splice	PUM1_uc001bsf.1_Splice_Site_SNP_p.R530_splice|PUM1_uc001bsg.1_Splice_Site_SNP_p.R598_splice|PUM1_uc001bsh.1_Splice_Site_SNP_p.R864_splice|PUM1_uc001bsi.1_Splice_Site_SNP_p.R864_splice|PUM1_uc001bsj.1_Splice_Site_SNP_p.R838_splice|PUM1_uc010oga.1_Splice_Site_SNP_p.R720_splice|PUM1_uc010ogb.1_Splice_Site_SNP_p.R805_splice	NM_001020658	NP_001018494			pumilio 1 isoform 1						cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)										0.362069	67.262497	68.23219	21	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31425212	31425212	13283	1	T	G	G	G	715	55	PUM1	5	4
PRDM16	63976	broad.mit.edu	37	1	3328985	3328985	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3328985G>T	uc001akf.2	+	c.2224G>T	c.(2224-2226)GAC>TAC	p.D742Y	PRDM16_uc001akc.2_Missense_Mutation_p.D742Y|PRDM16_uc001akd.2_Missense_Mutation_p.D742Y|PRDM16_uc001ake.2_Missense_Mutation_p.D742Y|PRDM16_uc009vlh.2_Missense_Mutation_p.D443Y	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	742	Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription activator activity|transcription coactivator activity|transcription repressor activity|zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)					p.D742Y(NCIH2444-Tumor)	1161				0.4875	111.215047	111.226114	39	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3328985	3328985	12899	1	G	T	T	T	533	41	PRDM16	2	2
S100PBP	64766	broad.mit.edu	37	1	33292344	33292344	+	Nonsense_Mutation	SNP	C	G	G	rs75169497	byFrequency;by1000genomes	TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33292344C>G	uc001bvz.2	+	c.644C>G	c.(643-645)TCA>TGA	p.S215*	S100PBP_uc001bwa.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwb.1_Nonsense_Mutation_p.S215*|S100PBP_uc001bwc.2_Nonsense_Mutation_p.S215*|S100PBP_uc001bwd.2_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	215						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.27907	39.081271	40.968836	12	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33292344	33292344	14271	1	C	G	G	G	377	29	S100PBP	5	3
TP73	7161	broad.mit.edu	37	1	3649416	3649416	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3649416C>T	uc001akp.2	+	c.1684C>T	c.(1684-1686)CGC>TGC	p.R562C	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Missense_Mutation_p.R513C|TP73_uc009vlk.1_3'UTR|TP73_uc001aks.2_3'UTR|TP73_uc010nzk.1_Missense_Mutation_p.R491C|TP73_uc010nzl.1_Missense_Mutation_p.R111C	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	562					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)						1049				0.580645	57.16377	57.343396	18	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3649416	3649416	16937	1	C	T	T	T	299	23	TP73	1	1
GRIK3	2899	broad.mit.edu	37	1	37319301	37319301	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:37319301C>A	uc001caz.2	-	c.1127G>T	c.(1126-1128)GGA>GTA	p.G376V	GRIK3_uc001cba.1_Missense_Mutation_p.G376V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	376	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.232558	23.426554	26.243851	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37319301	37319301	7054	1	C	A	A	A	390	30	GRIK3	2	2
EPHA10	284656	broad.mit.edu	37	1	38188721	38188721	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38188721A>G	uc009vvi.2	-	c.1952T>C	c.(1951-1953)CTT>CCT	p.L651P	EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_Non-coding_Transcript|EPHA10_uc001cbu.2_Non-coding_Transcript|EPHA10_uc001cbv.1_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	651	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(3)|stomach(1)	4	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)								328				0.333333	81.952255	83.796174	25	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38188721	38188721	5359	1	A	G	G	G	39	3	EPHA10	4	4
CYP4X1	260293	broad.mit.edu	37	1	47505153	47505153	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47505153G>A	uc001cqt.2	+	c.1022G>A	c.(1021-1023)AGA>AAA	p.R341K	CYP4X1_uc001cqr.2_Missense_Mutation_p.R340K|CYP4X1_uc001cqs.2_Missense_Mutation_p.R276K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	341					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.368421	40.33826	40.917269	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47505153	47505153	4358	1	G	A	A	A	429	33	CYP4X1	2	2
ACOT7	11332	broad.mit.edu	37	1	6453348	6453348	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6453348C>A	uc001amt.2	-	c.112G>T	c.(112-114)GTC>TTC	p.V38F	ACOT7_uc010nzq.1_5'UTR|ACOT7_uc001amu.2_Non-coding_Transcript|ACOT7_uc001amv.2_Non-coding_Transcript	NM_007274	NP_009205	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHa	46						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GBM(74;673 1226 4974 11850 13190)								0.761905	54.0207	55.360568	16	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6453348	6453348	156	1	C	A	A	A	247	19	ACOT7	1	1
TNFRSF25	8718	broad.mit.edu	37	1	6521752	6521752	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6521752G>C	uc001anh.2	-	c.1023C>G	c.(1021-1023)GGC>GGG	p.G341G	TNFRSF25_uc001ana.2_Silent_p.G149G|TNFRSF25_uc001anb.2_Non-coding_Transcript|TNFRSF25_uc001anc.2_Non-coding_Transcript|TNFRSF25_uc001and.2_Silent_p.G105G|TNFRSF25_uc009vlz.2_Non-coding_Transcript|TNFRSF25_uc001ane.2_Silent_p.G332G|TNFRSF25_uc001anf.2_Silent_p.G295G|TNFRSF25_uc001ang.2_Silent_p.G287G	NM_148965	NP_683866	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	332	Death.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)										0.818182	30.276749	31.321677	9	2	KEEP	---	---	---	---	capture		Silent	SNP	6521752	6521752	16837	1	G	C	C	C	535	42	TNFRSF25	3	3
DNAJC6	9829	broad.mit.edu	37	1	65849892	65849892	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65849892C>T	uc001dce.1	+	c.683C>T	c.(682-684)TCA>TTA	p.S228L	DNAJC6_uc001dcc.1_Missense_Mutation_p.S202L|DNAJC6_uc001dcd.1_Missense_Mutation_p.S171L|DNAJC6_uc010opc.1_Missense_Mutation_p.S158L	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	171	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.215385	30.111398	34.974029	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65849892	65849892	4836	1	C	T	T	T	377	29	DNAJC6	2	2
ACADM	34	broad.mit.edu	37	1	76216217	76216217	+	Nonsense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76216217A>T	uc009wbr.2	+	c.1030A>T	c.(1030-1032)AAG>TAG	p.K344*	ACADM_uc010ord.1_Nonsense_Mutation_p.K225*|ACADM_uc001dgw.3_Nonsense_Mutation_p.K311*|ACADM_uc009wbp.2_Nonsense_Mutation_p.K315*|ACADM_uc010ore.1_Nonsense_Mutation_p.K275*|ACADM_uc010orf.1_Nonsense_Mutation_p.K122*|ACADM_uc001dgx.3_Nonsense_Mutation_p.K225*|ACADM_uc010org.1_Nonsense_Mutation_p.K181*|ACADM_uc009wbs.1_Non-coding_Transcript	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	311					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)	3														0.352941	15.443837	15.768489	6	11	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76216217	76216217	114	1	A	T	T	T	13	1	ACADM	5	3
MSH4	4438	broad.mit.edu	37	1	76343962	76343962	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76343962T>A	uc001dhd.1	+	c.1499T>A	c.(1498-1500)ATA>AAA	p.I500K		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	500					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.391304	24.947157	25.191527	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76343962	76343962	10265	1	T	A	A	A	637	49	MSH4	3	3
MSH4	4438	broad.mit.edu	37	1	76349447	76349447	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76349447T>A	uc001dhd.1	+	c.2048T>A	c.(2047-2049)ATG>AAG	p.M683K		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	683	ATP (Potential).				chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.307692	24.194151	25.049103	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76349447	76349447	10265	1	T	A	A	A	663	51	MSH4	3	3
CAMTA1	23261	broad.mit.edu	37	1	7805972	7805972	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7805972A>G	uc001aoi.2	+	c.4438A>G	c.(4438-4440)AGT>GGT	p.S1480G	CAMTA1_uc001aok.3_Missense_Mutation_p.S523G|CAMTA1_uc001aoj.2_Missense_Mutation_p.S436G|CAMTA1_uc009vmf.2_Missense_Mutation_p.S70G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.233871	75.709231	83.748903	29	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7805972	7805972	2730	1	A	G	G	G	91	7	CAMTA1	4	4
RERE	473	broad.mit.edu	37	1	8425882	8425882	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8425882G>A	uc001ape.2	-	c.1437C>T	c.(1435-1437)TCC>TCT	p.S479S	RERE_uc001apf.2_Silent_p.S479S|RERE_uc010nzx.1_Silent_p.S211S|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	479					multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)										0.424242	84.988745	85.319308	28	38	KEEP	---	---	---	---	capture		Silent	SNP	8425882	8425882	13700	1	G	A	A	A	600	47	RERE	2	2
TTLL7	79739	broad.mit.edu	37	1	84399443	84399443	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84399443C>A	uc001djc.2	-	c.895G>T	c.(895-897)GTG>TTG	p.V299L	TTLL7_uc001djb.2_Non-coding_Transcript|TTLL7_uc001djd.2_Non-coding_Transcript|TTLL7_uc001dje.2_Non-coding_Transcript|TTLL7_uc001djf.2_Non-coding_Transcript|TTLL7_uc001djg.2_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	299	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)										0.25641	24.833597	26.930751	10	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84399443	84399443	17287	1	C	A	A	A	234	18	TTLL7	2	2
COL24A1	255631	broad.mit.edu	37	1	86578265	86578265	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86578265T>C	uc001dlj.2	-	c.1584A>G	c.(1582-1584)GGA>GGG	p.G528G	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript|COL24A1_uc009wcq.2_Silent_p.G528G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	528	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.229167	32.001513	35.228625	11	37	KEEP	---	---	---	---	capture		Silent	SNP	86578265	86578265	3821	1	T	C	C	C	639	50	COL24A1	4	4
PKN2	5586	broad.mit.edu	37	1	89294166	89294166	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89294166A>G	uc001dmn.2	+	c.2422A>G	c.(2422-2424)ATG>GTG	p.M808V	PKN2_uc010osp.1_Missense_Mutation_p.M792V|PKN2_uc010osq.1_Missense_Mutation_p.M651V|PKN2_uc009wcv.2_Missense_Mutation_p.M760V|PKN2_uc010osr.1_Missense_Mutation_p.M473V	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	808	Protein kinase.				protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)						455				0.192308	13.760808	16.058414	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89294166	89294166	12405	1	A	G	G	G	52	4	PKN2	4	4
SPSB1	80176	broad.mit.edu	37	1	9416304	9416304	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9416304G>C	uc010oae.1	+	c.354G>C	c.(352-354)GCG>GCC	p.A118A	SPSB1_uc001apv.2_Silent_p.A118A	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box	118	B30.2/SPRY.				intracellular signal transduction	cytoplasm					0	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)										0.579832	236.492316	237.154471	69	50	KEEP	---	---	---	---	capture		Silent	SNP	9416304	9416304	15626	1	G	C	C	C	470	37	SPSB1	3	3
ABCA4	24	broad.mit.edu	37	1	94544950	94544950	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94544950C>A	uc001dqh.2	-	c.1167G>T	c.(1165-1167)GCG>GCT	p.A389A	ABCA4_uc010otn.1_Silent_p.A389A	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	389	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.357143	59.386269	60.392088	20	36	KEEP	---	---	---	---	capture		Silent	SNP	94544950	94544950	35	1	C	A	A	A	288	23	ABCA4	1	1
ABCA4	24	broad.mit.edu	37	1	94564460	94564460	+	Missense_Mutation	SNP	G	A	A	rs61748538		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94564460G>A	uc001dqh.2	-	c.658C>T	c.(658-660)CGC>TGC	p.R220C	ABCA4_uc010otn.1_Missense_Mutation_p.R220C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	220	Extracellular.		R -> C (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.197183	28.603994	34.674668	14	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94564460	94564460	35	1	G	A	A	A	520	40	ABCA4	1	1
NSFL1C	55968	broad.mit.edu	37	20	1424459	1424459	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1424459C>A	uc002wfc.2	-	c.1048G>T	c.(1048-1050)GAT>TAT	p.D350Y	NSFL1C_uc002wfd.2_Missense_Mutation_p.D239Y|NSFL1C_uc002wfe.2_Missense_Mutation_p.D319Y|NSFL1C_uc002wff.2_Non-coding_Transcript|NSFL1C_uc010gag.2_Missense_Mutation_p.D116Y	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	350	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0														0.214286	20.452083	23.618179	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1424459	1424459	11077	20	C	A	A	A	377	29	NSFL1C	2	2
KIF16B	55614	broad.mit.edu	37	20	16348016	16348016	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16348016C>G	uc010gci.1	-	c.3954G>C	c.(3952-3954)AAG>AAC	p.K1318N	KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Intron|KIF16B_uc002wpg.1_Intron|KIF16B_uc010gch.1_Intron	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	Error:Variant_position_missing_in_Q96L93_after_alignment					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.176101	70.001541	85.724836	28	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16348016	16348016	8589	20	C	G	G	G	404	32	KIF16B	3	3
KIF16B	55614	broad.mit.edu	37	20	16359917	16359917	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16359917C>T	uc010gci.1	-	c.2730G>A	c.(2728-2730)CAG>CAA	p.Q910Q	KIF16B_uc002wpe.1_Silent_p.Q292Q|KIF16B_uc002wpf.1_Silent_p.Q292Q|KIF16B_uc002wpg.1_Silent_p.Q910Q|KIF16B_uc010gch.1_Silent_p.Q910Q|KIF16B_uc010gcj.1_Silent_p.Q921Q	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	910	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.394737	134.346534	135.453389	45	69	KEEP	---	---	---	---	capture		Silent	SNP	16359917	16359917	8589	20	C	T	T	T	259	20	KIF16B	2	2
XRN2	22803	broad.mit.edu	37	20	21346252	21346252	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:21346252C>G	uc002wsf.1	+	c.2366C>G	c.(2365-2367)TCC>TGC	p.S789C	XRN2_uc002wsg.1_Missense_Mutation_p.S713C|XRN2_uc010zsk.1_Missense_Mutation_p.S735C	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	789					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding				0														0.168224	43.384586	54.538424	18	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21346252	21346252	18043	20	C	G	G	G	390	30	XRN2	3	3
COX4I2	84701	broad.mit.edu	37	20	30232608	30232608	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30232608G>C	uc002wwj.1	+	c.417G>C	c.(415-417)CGG>CGC	p.R139R		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2	139					cellular respiration	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)											0.188679	27.122922	31.925607	10	43	KEEP	---	---	---	---	capture		Silent	SNP	30232608	30232608	3908	20	G	C	C	C	522	41	COX4I2	3	3
HCK	3055	broad.mit.edu	37	20	30667605	30667605	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30667605G>C	uc002wxh.2	+	c.457G>C	c.(457-459)GAC>CAC	p.D153H	HCK_uc010gdy.2_Missense_Mutation_p.D132H|HCK_uc002wxi.2_Missense_Mutation_p.D131H	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	153	SH2.				interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)							262				0.277778	30.03352	31.633635	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30667605	30667605	7276	20	G	C	C	C	533	41	HCK	3	3
PLAGL2	5326	broad.mit.edu	37	20	30784777	30784777	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30784777C>G	uc002wxn.2	-	c.969G>C	c.(967-969)ATG>ATC	p.M323I		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	323					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			Colon(163;15 1893 11280 16306 47518)								0.208556	108.51278	123.227203	39	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30784777	30784777	12446	20	C	G	G	G	377	29	PLAGL2	3	3
ASXL1	171023	broad.mit.edu	37	20	31016158	31016158	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31016158C>A	uc002wxs.2	+	c.404C>A	c.(403-405)TCC>TAC	p.S135Y	ASXL1_uc002wxr.1_Non-coding_Transcript|ASXL1_uc010geb.2_Missense_Mutation_p.S77Y	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	135					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(131)|large_intestine(6)|central_nervous_system(2)|ovary(1)	140														0.191489	54.43343	66.98114	27	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31016158	31016158	1085	20	C	A	A	A	390	30	ASXL1	2	2
NCOA6	23054	broad.mit.edu	37	20	33328826	33328826	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33328826G>A	uc002xav.2	-	c.5234C>T	c.(5233-5235)TCC>TTC	p.S1745F	NCOA6_uc002xaw.2_Missense_Mutation_p.S1745F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1745	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding|transcription activator activity			ovary(3)|breast(3)|central_nervous_system(1)	7														0.333333	49.730365	51.059616	18	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33328826	33328826	10632	20	G	A	A	A	533	41	NCOA6	2	2
RBM39	9584	broad.mit.edu	37	20	34295058	34295058	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34295058T>C	uc002xeb.2	-	c.1291A>G	c.(1291-1293)ATG>GTG	p.M431V	RBM39_uc002xdz.2_Missense_Mutation_p.M407V|RBM39_uc002xea.2_Missense_Mutation_p.M274V|RBM39_uc010gfn.2_Missense_Mutation_p.M274V|RBM39_uc010zvm.1_Missense_Mutation_p.M403V|RBM39_uc002xeg.2_Missense_Mutation_p.M409V|RBM39_uc002xec.2_Missense_Mutation_p.M425V|RBM39_uc002xed.2_Missense_Mutation_p.M149V|RBM39_uc002xee.2_Missense_Mutation_p.M274V|RBM39_uc002xef.2_Missense_Mutation_p.M268V|RBM39_uc010zvn.1_Missense_Mutation_p.M274V	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	431	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)													0.294118	15.469018	16.113426	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34295058	34295058	13595	20	T	C	C	C	663	51	RBM39	4	4
ATRN	8455	broad.mit.edu	37	20	3541497	3541497	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3541497C>G	uc002wim.2	+	c.1392C>G	c.(1390-1392)ATC>ATG	p.I464M	ATRN_uc002wil.2_Missense_Mutation_p.I464M	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	464	Extracellular (Potential).|Kelch 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.213115	35.439644	40.079693	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3541497	3541497	1225	20	C	G	G	G	408	32	ATRN	3	3
KIAA1755	85449	broad.mit.edu	37	20	36870201	36870201	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36870201G>T	uc002xhy.1	-	c.332C>A	c.(331-333)CCC>CAC	p.P111H	KIAA1755_uc002xhz.1_Missense_Mutation_p.P111H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	111										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.157025	32.442122	46.027664	19	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36870201	36870201	8568	20	G	T	T	T	559	43	KIAA1755	2	2
RALGAPB	57148	broad.mit.edu	37	20	37121587	37121587	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37121587G>A	uc002xiw.2	+	c.201G>A	c.(199-201)ATG>ATA	p.M67I	RALGAPB_uc010zvz.1_Missense_Mutation_p.M67I|RALGAPB_uc002xix.2_Missense_Mutation_p.M67I|RALGAPB_uc002xiy.1_Missense_Mutation_p.M67I|RALGAPB_uc002xiz.2_5'UTR	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	67					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)	1														0.3	44.621069	46.768912	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37121587	37121587	13475	20	G	A	A	A	611	47	RALGAPB	2	2
SLC32A1	140679	broad.mit.edu	37	20	37357156	37357156	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37357156G>T	uc002xjc.2	+	c.1452G>T	c.(1450-1452)AAG>AAT	p.K484N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	484	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.373134	72.556148	73.503996	25	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37357156	37357156	15062	20	G	T	T	T	438	34	SLC32A1	2	2
PPP1R16B	26051	broad.mit.edu	37	20	37546891	37546891	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37546891G>T	uc002xje.2	+	c.1286G>T	c.(1285-1287)CGG>CTG	p.R429L	PPP1R16B_uc010ggc.2_Missense_Mutation_p.R387L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	429					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.24159	195.348921	215.283816	79	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37546891	37546891	12801	20	G	T	T	T	507	39	PPP1R16B	1	1
EMILIN3	90187	broad.mit.edu	37	20	39990940	39990940	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39990940G>A	uc002xjy.1	-	c.1269C>T	c.(1267-1269)CTC>CTT	p.L423L		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	423						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.15748	35.212462	49.430332	20	107	KEEP	---	---	---	---	capture		Silent	SNP	39990940	39990940	5287	20	G	A	A	A	418	33	EMILIN3	2	2
CHD6	84181	broad.mit.edu	37	20	40118549	40118549	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40118549G>A	uc002xka.1	-	c.1549C>T	c.(1549-1551)CCT>TCT	p.P517S	CHD6_uc002xkd.2_Missense_Mutation_p.P495S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	517	Helicase ATP-binding.				chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.28125	74.813737	78.924315	27	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40118549	40118549	3463	20	G	A	A	A	559	43	CHD6	2	2
ELMO2	63916	broad.mit.edu	37	20	45002126	45002126	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45002126C>A	uc010zxr.1	-	c.1364G>T	c.(1363-1365)CGA>CTA	p.R455L	ELMO2_uc010zxq.1_Missense_Mutation_p.R175L|ELMO2_uc002xrs.1_Missense_Mutation_p.R190L|ELMO2_uc002xrt.1_Missense_Mutation_p.R443L|ELMO2_uc002xru.1_Missense_Mutation_p.R443L|ELMO2_uc010zxs.1_Missense_Mutation_p.R260L|ELMO2_uc002xrv.1_Missense_Mutation_p.R162L|ELMO2_uc002xrw.2_Missense_Mutation_p.R260L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	443	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.257143	47.017099	50.759653	18	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45002126	45002126	5258	20	C	A	A	A	403	31	ELMO2	1	1
BCAS4	55653	broad.mit.edu	37	20	49458380	49458380	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49458380C>T	uc002xvq.2	+	c.432C>T	c.(430-432)GCC>GCT	p.A144A	BCAS4_uc002xvr.2_Silent_p.A144A|BCAS4_uc002xvs.2_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4 isoform a	144						cytoplasm					0														0.333333	54.132432	55.46065	18	36	KEEP	---	---	---	---	capture		Silent	SNP	49458380	49458380	1374	20	C	T	T	T	301	24	BCAS4	2	2
TSHZ2	128553	broad.mit.edu	37	20	51872150	51872150	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51872150G>C	uc002xwo.2	+	c.2153G>C	c.(2152-2154)TGC>TCC	p.C718S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.309859	73.024711	75.310828	22	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51872150	51872150	17175	20	G	C	C	C	598	46	TSHZ2	3	3
PCK1	5105	broad.mit.edu	37	20	56138681	56138681	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56138681G>T	uc002xyn.3	+	c.859G>T	c.(859-861)GCC>TCC	p.A287S	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	287	GTP.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.301587	109.273828	113.663282	38	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138681	56138681	12001	20	G	T	T	T	494	38	PCK1	1	1
ZNF831	128611	broad.mit.edu	37	20	57768421	57768421	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57768421C>G	uc002yan.2	+	c.2347C>G	c.(2347-2349)CCC>GCC	p.P783A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	783						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.319149	39.80443	41.172704	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57768421	57768421	18784	20	C	G	G	G	286	22	ZNF831	3	3
ZNF831	128611	broad.mit.edu	37	20	57769224	57769224	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769224G>T	uc002yan.2	+	c.3150G>T	c.(3148-3150)GAG>GAT	p.E1050D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1050						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.375	50.835891	51.49518	18	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57769224	57769224	18784	20	G	T	T	T	451	35	ZNF831	2	2
LAMA5	3911	broad.mit.edu	37	20	60890259	60890259	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60890259C>A	uc002ycq.2	-	c.7872G>T	c.(7870-7872)GAG>GAT	p.E2624D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2624	Potential.|Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.27907	28.476989	30.368146	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60890259	60890259	8932	20	C	A	A	A	415	32	LAMA5	2	2
NTSR1	4923	broad.mit.edu	37	20	61386225	61386225	+	Silent	SNP	C	A	A	rs34864360	byFrequency	TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61386225C>A	uc002ydf.2	+	c.903C>A	c.(901-903)GGC>GGA	p.G301G		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	301	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GBM(37;400 780 6403 19663 35669)			p.G301G(KG1-Tumor)|p.G301G(NCIH1339-Tumor)|p.G301G(EFE184-Tumor)|p.G301G(RAJI-Tumor)|p.G301G(NCIH2110-Tumor)	297				0.230769	23.156465	25.745645	9	30	KEEP	---	---	---	---	capture		Silent	SNP	61386225	61386225	11115	20	C	A	A	A	340	27	NTSR1	1	1
COL9A3	1299	broad.mit.edu	37	20	61461738	61461738	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61461738C>T	uc002ydm.2	+	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	396	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.375	9.223366	9.33298	3	5	KEEP	---	---	---	---	capture		Silent	SNP	61461738	61461738	3847	20	C	T	T	T	288	23	COL9A3	1	1
TCEA2	6919	broad.mit.edu	37	20	62701953	62701953	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62701953G>T	uc010gks.2	+	c.787G>T	c.(787-789)GGC>TGC	p.G263C	TCEA2_uc011abr.1_Missense_Mutation_p.G235C|TCEA2_uc011abs.1_Missense_Mutation_p.G262C	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	262	TFIIS-type.				regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)													0.357143	26.838253	27.343194	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62701953	62701953	16194	20	G	T	T	T	507	39	TCEA2	1	1
LIPI	149998	broad.mit.edu	37	21	15558333	15558333	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15558333T>C	uc002yjm.2	-	c.553A>G	c.(553-555)ATC>GTC	p.I185V	LIPI_uc010gkw.1_Missense_Mutation_p.I118V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	164					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)										0.62406	317.46892	319.27066	83	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15558333	15558333	9152	21	T	C	C	C	637	49	LIPI	4	4
JAM2	58494	broad.mit.edu	37	21	27086965	27086965	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27086965C>A	uc002ylp.1	+	c.878C>A	c.(877-879)ACA>AAA	p.T293K	JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.T257K|JAM2_uc010glh.1_Non-coding_Transcript|JAM2_uc002ylr.1_Missense_Mutation_p.T289K|JAM2_uc010gli.1_Missense_Mutation_p.Q275K	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	293	Cytoplasmic (Potential).			DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).	blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0														0.4	32.044848	32.26359	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27086965	27086965	8247	21	C	A	A	A	221	17	JAM2	2	2
CLDN17	26285	broad.mit.edu	37	21	31538717	31538717	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538717G>A	uc011acv.1	-	c.219C>T	c.(217-219)CTC>CTT	p.L73L		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	73	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.179104	23.458133	29.951703	12	55	KEEP	---	---	---	---	capture		Silent	SNP	31538717	31538717	3614	21	G	A	A	A	522	41	CLDN17	2	2
KRTAP13-2	337959	broad.mit.edu	37	21	31744334	31744334	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31744334G>C	uc002ynz.3	-	c.198C>G	c.(196-198)TGC>TGG	p.C66W		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	66	3.|5 X 10 AA approximate repeats.					intermediate filament					0														0.240741	38.547191	41.859093	13	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31744334	31744334	8838	21	G	C	C	C	542	42	KRTAP13-2	3	3
KRTAP15-1	254950	broad.mit.edu	37	21	31813004	31813004	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31813004G>A	uc002yod.2	+	c.359G>A	c.(358-360)AGC>AAC	p.S120N		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	120						intermediate filament					0														0.230769	44.606316	49.790002	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31813004	31813004	8841	21	G	A	A	A	442	34	KRTAP15-1	2	2
RUNX1	861	broad.mit.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:36231792C>T	uc010gmu.2	-	c.592G>A	c.(592-594)GAT>AAT	p.D198N	RUNX1_uc002yuh.2_Missense_Mutation_p.D171N|RUNX1_uc002yui.2_Missense_Mutation_p.D171N|RUNX1_uc010gmv.2_Missense_Mutation_p.D198N|RUNX1_uc002yuj.3_Missense_Mutation_p.D66N|RUNX1_uc002yuk.3_Missense_Mutation_p.D198N|RUNX1_uc002yum.1_Missense_Mutation_p.D66N|RUNX1_uc010gmw.1_Missense_Mutation_p.D198N|RUNX1_uc002yuo.1_Missense_Mutation_p.D171N|RUNX1_uc002yur.1_Missense_Mutation_p.D66N	NM_001754	NP_001745	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	171	Interaction with DNA.|Runt.			D->A: Strongly reduces DNA-binding.|Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding	p.D198N(10)|p.D198G(2)|p.G170_K171insRRG(1)|p.D198V(1)|p.K171N(1)		haematopoietic_and_lymphoid_tissue(366)|lung(1)|central_nervous_system(1)	368										90				0.197183	29.906681	35.973234	14	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36231792	36231792	14226	21	C	T	T	T	390	30	RUNX1	2	2
KCNJ6	3763	broad.mit.edu	37	21	39086866	39086866	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:39086866C>A	uc011aej.1	-	c.594G>T	c.(592-594)AAG>AAT	p.K198N	KCNJ6_uc002ywo.2_Missense_Mutation_p.K198N	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	198	Cytoplasmic (By similarity).				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding				0					Halothane(DB01159)	Pancreas(48;379 1118 2936 19024 28214)								0.276923	44.118042	47.031985	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39086866	39086866	8360	21	C	A	A	A	415	32	KCNJ6	2	2
ETS2	2114	broad.mit.edu	37	21	40194759	40194759	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40194759C>T	uc002yxf.2	+	c.1776C>T	c.(1774-1776)TTC>TTT	p.F592F	ETS2_uc002yxg.2_Silent_p.F452F	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	452					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|pancreas(1)	3		Prostate(19;6.33e-08)|all_epithelial(19;0.123)												0.322581	24.636443	25.504373	10	21	KEEP	---	---	---	---	capture		Silent	SNP	40194759	40194759	5469	21	C	T	T	T	376	29	ETS2	2	2
UMODL1	89766	broad.mit.edu	37	21	43508578	43508578	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43508578G>C	uc002zag.1	+	c.778G>C	c.(778-780)GTC>CTC	p.V260L	UMODL1_uc002zad.1_Missense_Mutation_p.V188L|UMODL1_uc002zae.1_Missense_Mutation_p.V188L|UMODL1_uc002zaf.1_Missense_Mutation_p.V260L|UMODL1_uc010gow.1_Missense_Mutation_p.V52L|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V52L	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	260	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.333333	10.622227	10.843519	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43508578	43508578	17538	21	G	C	C	C	520	40	UMODL1	3	3
ABCG1	9619	broad.mit.edu	37	21	43621828	43621828	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43621828C>G	uc002zan.2	+	c.43C>G	c.(43-45)CCT>GCT	p.P15A	ABCG1_uc002zam.2_5'UTR	NM_207627	NP_997510	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	Error:Variant_position_missing_in_P45844_after_alignment					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|integral to plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid binding|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)	2					Adenosine triphosphate(DB00171)									0.473684	25.968006	25.979763	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43621828	43621828	69	21	C	G	G	G	286	22	ABCG1	3	3
KRTAP10-8	386681	broad.mit.edu	37	21	46032130	46032130	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46032130G>T	uc002zfo.1	+	c.113G>T	c.(112-114)GGC>GTC	p.G38V	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	38	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|breast(1)	2														0.293333	58.879474	61.713493	22	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46032130	46032130	8830	21	G	T	T	T	546	42	KRTAP10-8	2	2
KRTAP10-11	386678	broad.mit.edu	37	21	46066935	46066935	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46066935C>A	uc002zfr.3	+	c.560C>A	c.(559-561)GCC>GAC	p.A187D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	187	25 X 5 AA repeats of C-C-X(3).					keratin filament				ovary(1)	1														0.31694	156.366267	161.777265	58	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46066935	46066935	8822	21	C	A	A	A	338	26	KRTAP10-11	2	2
VPREB1	7441	broad.mit.edu	37	22	22599589	22599589	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22599589T>G	uc002zvx.1	+	c.278T>G	c.(277-279)GTG>GGG	p.V93G	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	93	Ig-like V-type.|Framework-3.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)										0.362637	113.15492	114.664008	33	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22599589	22599589	17753	22	T	G	G	G	767	59	VPREB1	4	4
VPREB1	7441	broad.mit.edu	37	22	22599591	22599591	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22599591G>C	uc002zvx.1	+	c.280G>C	c.(280-282)GCC>CCC	p.A94P	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	94	Ig-like V-type.|Framework-3.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)										0.37931	115.655797	116.767135	33	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22599591	22599591	17753	22	G	C	C	C	546	42	VPREB1	3	3
ZNF280B	140883	broad.mit.edu	37	22	22843099	22843099	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22843099G>C	uc002zwc.1	-	c.625C>G	c.(625-627)CAT>GAT	p.H209D	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)										0.175258	44.818733	54.461449	17	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22843099	22843099	18407	22	G	C	C	C	585	45	ZNF280B	3	3
SUSD2	56241	broad.mit.edu	37	22	24580910	24580911	+	Splice_Site_DNP	DNP	TA	GT	GT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24580910_24580911TA>GT	uc002zzn.1	+	c.782_splice	c.e5+2	p.K261_splice		NM_019601	NP_062547			sushi domain containing 2 precursor						immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity				0														0.297297	33.410969	34.77036	11	26	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	24580910	24580911	15928	22	TA	GT	GT	GT	741	57	SUSD2	5	4
MYO18B	84700	broad.mit.edu	37	22	26242238	26242238	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26242238C>G	uc003abz.1	+	c.3540C>G	c.(3538-3540)ATC>ATG	p.I1180M	MYO18B_uc003aca.1_Missense_Mutation_p.I1061M|MYO18B_uc010guy.1_Missense_Mutation_p.I1062M|MYO18B_uc010guz.1_Missense_Mutation_p.I1061M|MYO18B_uc011aka.1_Missense_Mutation_p.I334M|MYO18B_uc011akb.1_Missense_Mutation_p.I693M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.42	75.267834	75.546949	21	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26242238	26242238	10461	22	C	G	G	G	369	29	MYO18B	3	3
EIF4ENIF1	56478	broad.mit.edu	37	22	31850252	31850252	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31850252C>T	uc003akz.1	-	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.E143K|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.E464K|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.E301K	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	464						nucleus	protein binding|protein transporter activity			ovary(1)	1														0.171053	27.123988	34.902668	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31850252	31850252	5226	22	C	T	T	T	416	32	EIF4ENIF1	2	2
DEPDC5	9681	broad.mit.edu	37	22	32217561	32217561	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32217561G>A	uc011alu.1	+	c.1944G>A	c.(1942-1944)CAG>CAA	p.Q648Q	DEPDC5_uc011als.1_Intron|DEPDC5_uc003als.2_Silent_p.Q648Q|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Silent_p.Q648Q|DEPDC5_uc003alu.2_Silent_p.Q88Q|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.1_Intron	NM_001136029	NP_001129501	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 3	648					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8														0.325153	151.524093	155.943052	53	110	KEEP	---	---	---	---	capture		Silent	SNP	32217561	32217561	4621	22	G	A	A	A	425	33	DEPDC5	2	2
LARGE	9215	broad.mit.edu	37	22	33673054	33673054	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:33673054C>G	uc003and.3	-	c.2065G>C	c.(2065-2067)GAT>CAT	p.D689H	LARGE_uc011amd.1_Missense_Mutation_p.D488H|LARGE_uc003ane.3_Missense_Mutation_p.D689H|LARGE_uc010gwp.2_Missense_Mutation_p.D637H|LARGE_uc011ame.1_Missense_Mutation_p.D621H|LARGE_uc011amf.1_Missense_Mutation_p.D640H	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	689	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2		Lung NSC(1;0.219)				Colon(70;397 1175 4573 19089 45288)								0.185185	24.112698	29.139005	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33673054	33673054	8950	22	C	G	G	G	390	30	LARGE	3	3
MCM5	4174	broad.mit.edu	37	22	35804479	35804479	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:35804479G>T	uc003anu.3	+	c.675G>T	c.(673-675)CAG>CAT	p.Q225H	MCM5_uc010gwr.2_Missense_Mutation_p.Q34H|MCM5_uc003anv.3_Missense_Mutation_p.Q182H|MCM5_uc010gws.1_Non-coding_Transcript|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	225					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1														0.290323	42.70663	45.162175	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35804479	35804479	9779	22	G	T	T	T	425	33	MCM5	2	2
CACNG2	10369	broad.mit.edu	37	22	37098576	37098576	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37098576C>T	uc003aps.1	-	c.46G>A	c.(46-48)GGT>AGT	p.G16S		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	voltage-dependent calcium channel gamma-2	16	Helical; (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0														0.341667	110.551117	113.203458	41	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37098576	37098576	2673	22	C	T	T	T	273	21	CACNG2	2	2
SSTR3	6753	broad.mit.edu	37	22	37603250	37603250	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37603250G>T	uc003ara.2	-	c.593C>A	c.(592-594)CCG>CAG	p.P198Q	SSTR3_uc003arb.2_Missense_Mutation_p.P198Q	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	198	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity				0														0.589286	101.881548	102.271248	33	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37603250	37603250	15715	22	G	T	T	T	507	39	SSTR3	1	1
SH3BP1	23616	broad.mit.edu	37	22	38051611	38051611	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38051611G>A	uc003ati.2	+	c.2026G>A	c.(2026-2028)GAG>AAG	p.E676K	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	676					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)													0.6875	32.514688	33.010733	11	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38051611	38051611	14735	22	G	A	A	A	585	45	SH3BP1	2	2
MGAT3	4248	broad.mit.edu	37	22	39884738	39884738	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39884738G>T	uc003axv.3	+	c.1386G>T	c.(1384-1386)GGG>GGT	p.G462G	MGAT3_uc010gxy.2_Silent_p.G462G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	462	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)													0.5625	78.00616	78.166629	27	21	KEEP	---	---	---	---	capture		Silent	SNP	39884738	39884738	9934	22	G	T	T	T	548	43	MGAT3	2	2
SLC5A7	60482	broad.mit.edu	37	2	108609503	108609503	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108609503G>A	uc002tdv.2	+	c.368G>A	c.(367-369)GGA>GAA	p.G123E	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G123E|SLC5A7_uc010ywn.1_Missense_Mutation_p.G10E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	123	Extracellular (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.208955	31.715377	36.967997	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108609503	108609503	15167	2	G	A	A	A	533	41	SLC5A7	2	2
SH3RF3	344558	broad.mit.edu	37	2	110048969	110048969	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:110048969C>G	uc010ywt.1	+	c.1416C>G	c.(1414-1416)CTC>CTG	p.L472L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	472	SH3 3.						zinc ion binding			ovary(1)	1														0.416667	34.746929	34.89219	10	14	KEEP	---	---	---	---	capture		Silent	SNP	110048969	110048969	14752	2	C	G	G	G	405	32	SH3RF3	3	3
BUB1	699	broad.mit.edu	37	2	111395637	111395637	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:111395637C>T	uc002tgc.2	-	c.3162G>A	c.(3160-3162)CTG>CTA	p.L1054L	BUB1_uc010yxh.1_Silent_p.L1034L|BUB1_uc010fkb.2_Silent_p.L997L	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	1054	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|protein phosphorylation|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|kidney(1)	3		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)						375				0.321429	22.262237	23.056848	9	19	KEEP	---	---	---	---	capture		Silent	SNP	111395637	111395637	1604	2	C	T	T	T	366	29	BUB1	2	2
TTL	150465	broad.mit.edu	37	2	113286318	113286318	+	Silent	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113286318A>T	uc002thu.2	+	c.1080A>T	c.(1078-1080)CCA>CCT	p.P360P	TTL_uc010fkm.1_Intron	NM_153712	NP_714923	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	360	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)						130				0.333333	84.454659	86.59076	29	58	KEEP	---	---	---	---	capture		Silent	SNP	113286318	113286318	17276	2	A	T	T	T	67	6	TTL	3	3
IL1A	3552	broad.mit.edu	37	2	113539390	113539390	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113539390T>C	uc002tig.2	-	c.110A>G	c.(109-111)CAT>CGT	p.H37R		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	37					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding				0										100				0.422222	55.919205	56.156122	19	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113539390	113539390	7951	2	T	C	C	C	663	51	IL1A	4	4
PSD4	23550	broad.mit.edu	37	2	113955199	113955199	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113955199C>T	uc002tjc.2	+	c.2445C>T	c.(2443-2445)CTC>CTT	p.L815L	PSD4_uc002tjd.2_Silent_p.L436L|PSD4_uc002tje.2_Silent_p.L786L|PSD4_uc002tjf.2_Silent_p.L436L|PSD4_uc002tjg.2_5'UTR|PSD4_uc010yxs.1_Silent_p.L46L|PSD4_uc002tjh.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	815	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.314286	61.919178	64.070591	22	48	KEEP	---	---	---	---	capture		Silent	SNP	113955199	113955199	13102	2	C	T	T	T	405	32	PSD4	2	2
DDX18	8886	broad.mit.edu	37	2	118579310	118579310	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:118579310G>A	uc002tlh.1	+	c.735G>A	c.(733-735)AGG>AGA	p.R245R		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	245	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4														0.219512	20.951403	23.923777	9	32	KEEP	---	---	---	---	capture		Silent	SNP	118579310	118579310	4516	2	G	A	A	A	568	44	DDX18	2	2
GLI2	2736	broad.mit.edu	37	2	121747078	121747078	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:121747078G>T	uc010flp.2	+	c.3588G>T	c.(3586-3588)GGG>GGT	p.G1196G	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.G868G|GLI2_uc002tmu.3_Silent_p.G851G	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1196					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.415094	59.385591	59.730939	22	31	KEEP	---	---	---	---	capture		Silent	SNP	121747078	121747078	6706	2	G	T	T	T	548	43	GLI2	2	2
MAP3K2	10746	broad.mit.edu	37	2	128066163	128066163	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128066163G>C	uc002toj.1	-	c.1632C>G	c.(1630-1632)ATC>ATG	p.I544M		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	544	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)						211				0.157895	80.144118	105.592821	36	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128066163	128066163	9633	2	G	C	C	C	421	33	MAP3K2	3	3
WDR33	55339	broad.mit.edu	37	2	128471546	128471546	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128471546C>T	uc002tpg.1	-	c.2919G>A	c.(2917-2919)AGG>AGA	p.R973R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	973					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)										0.293478	72.484564	75.999341	27	65	KEEP	---	---	---	---	capture		Silent	SNP	128471546	128471546	17860	2	C	T	T	T	337	26	WDR33	2	2
CCDC74B	91409	broad.mit.edu	37	2	130899923	130899923	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130899923G>A	uc002tqm.1	-	c.327C>T	c.(325-327)GCC>GCT	p.A109A	CCDC74B_uc010yzw.1_Silent_p.A211A|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	109											0	Colorectal(110;0.1)													0.267857	41.800812	44.524798	15	41	KEEP	---	---	---	---	capture		Silent	SNP	130899923	130899923	2971	2	G	A	A	A	444	35	CCDC74B	2	2
GPR39	2863	broad.mit.edu	37	2	133403100	133403100	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133403100T>A	uc002ttl.2	+	c.1283T>A	c.(1282-1284)CTC>CAC	p.L428H	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	428	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0														0.3875	81.592995	82.484028	31	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133403100	133403100	6968	2	T	A	A	A	702	54	GPR39	3	3
CXCR4	7852	broad.mit.edu	37	2	136872465	136872465	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136872465C>G	uc002tuy.2	-	c.1045G>C	c.(1045-1047)GAG>CAG	p.E349Q	CXCR4_uc010fnk.2_Missense_Mutation_p.E330Q|CXCR4_uc002tuz.2_Missense_Mutation_p.E345Q	NM_001008540	NP_001008540	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform a	345	Cytoplasmic (Potential).				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)					69				0.269755	313.752346	331.313258	99	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136872465	136872465	4253	2	C	G	G	G	377	29	CXCR4	3	3
TPO	7173	broad.mit.edu	37	2	1418261	1418261	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1418261A>G	uc002qww.2	+	c.81A>G	c.(79-81)AAA>AAG	p.K27K	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.K27K|TPO_uc002qwu.2_Silent_p.K27K|TPO_uc002qwr.2_Silent_p.K27K|TPO_uc002qwx.2_Silent_p.K27K|TPO_uc010yio.1_Silent_p.K27K|TPO_uc010yip.1_Silent_p.K27K	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	27	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.535714	50.321013	50.351652	15	13	KEEP	---	---	---	---	capture		Silent	SNP	1418261	1418261	16954	2	A	G	G	G	37	3	TPO	4	4
PXDN	7837	broad.mit.edu	37	2	1639197	1639197	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1639197T>A	uc002qxa.2	-	c.4303A>T	c.(4303-4305)ACC>TCC	p.T1435S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1435	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.555556	15.575505	15.599667	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1639197	1639197	13305	2	T	A	A	A	767	59	PXDN	3	3
SCN1A	6323	broad.mit.edu	37	2	166930006	166930006	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166930006T>A	uc010zcz.1	-	c.126A>T	c.(124-126)AAA>AAT	p.K42N		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	42						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.526316	333.842529	333.967309	110	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166930006	166930006	14396	2	T	A	A	A	725	56	SCN1A	3	3
XIRP2	129446	broad.mit.edu	37	2	168106754	168106754	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106754G>T	uc002udx.2	+	c.8852G>T	c.(8851-8853)CGT>CTT	p.R2951L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2776L|XIRP2_uc010fpq.2_Missense_Mutation_p.R2729L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R297L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2776	Potential.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.529412	153.378526	153.442409	45	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106754	168106754	18011	2	G	T	T	T	520	40	XIRP2	1	1
LRP2	4036	broad.mit.edu	37	2	170112651	170112651	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170112651T>A	uc002ues.2	-	c.2735A>T	c.(2734-2736)CAG>CTG	p.Q912L	LRP2_uc010zdf.1_Missense_Mutation_p.Q775L	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	912	LDL-receptor class B 9.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.5	73.12401	73.12401	23	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170112651	170112651	9329	2	T	A	A	A	715	55	LRP2	3	3
GAD1	2571	broad.mit.edu	37	2	171715359	171715359	+	Missense_Mutation	SNP	A	T	T	rs34236419		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171715359A>T	uc002ugi.2	+	c.1567A>T	c.(1567-1569)AGG>TGG	p.R523W	GAD1_uc010fqc.2_Missense_Mutation_p.R142W	NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	523					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.535714	49.626981	49.658049	15	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171715359	171715359	6430	2	A	T	T	T	88	7	GAD1	3	3
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175614714C>A	uc002ujd.2	-	c.1037G>T	c.(1036-1038)CGC>CTC	p.R346L	CHRNA1_uc002uje.2_Missense_Mutation_p.R321L	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	346	Cytoplasmic.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)	3														0.478723	138.5871	138.62165	45	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175614714	175614714	3515	2	C	A	A	A	351	27	CHRNA1	1	1
OSBPL6	114880	broad.mit.edu	37	2	179209051	179209051	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179209051G>A	uc002uly.2	+	c.1026G>A	c.(1024-1026)CGG>CGA	p.R342R	OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002ulx.2_Intron|OSBPL6_uc010zfe.1_Intron|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Silent_p.R321R	NM_145739	NP_665682	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	329					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)											0.381579	83.553771	84.489614	29	47	KEEP	---	---	---	---	capture		Silent	SNP	179209051	179209051	11692	2	G	A	A	A	535	42	OSBPL6	2	2
TTN	7273	broad.mit.edu	37	2	179396241	179396241	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179396241C>T	uc010zfg.1	-	c.97397G>A	c.(97396-97398)GGG>GAG	p.G32466E	TTN_uc010zfh.1_Missense_Mutation_p.G26161E|TTN_uc010zfi.1_Missense_Mutation_p.G26094E|TTN_uc010zfj.1_Missense_Mutation_p.G25969E|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1175										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				0.466667	110.118556	110.191122	35	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179396241	179396241	17290	2	C	T	T	T	286	22	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179516838	179516838	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179516838T>A	uc010zfg.1	-	c.31978A>T	c.(31978-31980)AGT>TGT	p.S10660C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	541										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				0.185567	35.889851	44.88308	18	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179516838	179516838	17290	2	T	A	A	A	728	56	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179596652	179596652	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179596652C>A	uc010zfg.1	-	c.13218G>T	c.(13216-13218)AAG>AAT	p.K4406N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1067N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1403										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				0.24	41.40754	46.039284	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179596652	179596652	17290	2	C	A	A	A	311	24	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179599169	179599169	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179599169A>T	uc010zfg.1	-	c.11650T>A	c.(11650-11652)TCT>ACT	p.S3884T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S545T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2131										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				0.26506	56.414945	60.554139	22	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179599169	179599169	17290	2	A	T	T	T	130	10	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179641721	179641721	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179641721C>A	uc010zfg.1	-	c.4870G>T	c.(4870-4872)GAT>TAT	p.D1624Y	TTN_uc010zfh.1_Missense_Mutation_p.D1578Y|TTN_uc010zfi.1_Missense_Mutation_p.D1578Y|TTN_uc010zfj.1_Missense_Mutation_p.D1578Y|TTN_uc002unb.2_Missense_Mutation_p.D1624Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1624										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				0.419355	73.845625	74.195649	26	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179641721	179641721	17290	2	C	A	A	A	416	32	TTN	2	2
KCNS3	3790	broad.mit.edu	37	2	18112823	18112823	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:18112823C>A	uc002rcv.2	+	c.548C>A	c.(547-549)TCC>TAC	p.S183Y	KCNS3_uc002rcw.2_Missense_Mutation_p.S183Y	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	183	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.3	28.877298	30.311438	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18112823	18112823	8395	2	C	A	A	A	390	30	KCNS3	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801543	185801543	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801543G>C	uc002uph.2	+	c.1420G>C	c.(1420-1422)GAT>CAT	p.D474H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	474						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.545455	111.85625	111.955113	30	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801543	185801543	18768	2	G	C	C	C	429	33	ZNF804A	3	3
MOBKL3	25843	broad.mit.edu	37	2	198400314	198400314	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198400314G>A	uc002uun.3	+	c.184G>A	c.(184-186)GAA>AAA	p.E62K	MOBKL3_uc002uum.3_Missense_Mutation_p.E30K|MOBKL3_uc010fsn.2_Missense_Mutation_p.E41K|MOBKL3_uc010fso.2_Intron|MOBKL3_uc010zgz.1_5'UTR	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	62					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)											0.520833	156.548974	156.584886	50	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198400314	198400314	10078	2	G	A	A	A	585	45	MOBKL3	2	2
PLCL1	5334	broad.mit.edu	37	2	198953721	198953721	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198953721C>T	uc010fsp.2	+	c.2855C>T	c.(2854-2856)CCT>CTT	p.P952L	PLCL1_uc002uuv.3_Missense_Mutation_p.P873L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	952					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.443548	180.312864	180.65656	55	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198953721	198953721	12465	2	C	T	T	T	312	24	PLCL1	2	2
ALS2CR12	130540	broad.mit.edu	37	2	202207129	202207129	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202207129C>A	uc010ftg.2	-	c.488G>T	c.(487-489)TGT>TTT	p.C163F	ALS2CR12_uc002uya.3_Missense_Mutation_p.C163F|ALS2CR12_uc010fth.2_Intron	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	163	Potential.				regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3														0.576923	49.628581	49.762704	15	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202207129	202207129	556	2	C	A	A	A	221	17	ALS2CR12	2	2
SDC1	6382	broad.mit.edu	37	2	20404000	20404000	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20404000G>A	uc002rdo.1	-	c.201C>T	c.(199-201)GAC>GAT	p.D67D	SDC1_uc002rdp.1_Silent_p.D67D|SDC1_uc010exv.2_Silent_p.D67D|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	67	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)										0.588235	268.447216	269.482505	90	63	KEEP	---	---	---	---	capture		Silent	SNP	20404000	20404000	14436	2	G	A	A	A	620	48	SDC1	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209218694	209218694	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209218694G>T	uc002vcz.2	+	c.5917G>T	c.(5917-5919)GTC>TTC	p.V1973F		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1973	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.449275	93.913209	94.068343	31	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209218694	209218694	12348	2	G	T	T	T	572	44	PIKFYVE	2	2
APOB	338	broad.mit.edu	37	2	21234952	21234952	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21234952T>C	uc002red.2	-	c.4788A>G	c.(4786-4788)GCA>GCG	p.A1596A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1596					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.447368	53.471577	53.562917	17	21	KEEP	---	---	---	---	capture		Silent	SNP	21234952	21234952	796	2	T	C	C	C	756	59	APOB	4	4
APOB	338	broad.mit.edu	37	2	21235014	21235014	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21235014C>A	uc002red.2	-	c.4726G>T	c.(4726-4728)GGG>TGG	p.G1576W		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1576					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.381818	61.060214	61.734547	21	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21235014	21235014	796	2	C	A	A	A	273	21	APOB	2	2
VWC2L	402117	broad.mit.edu	37	2	215279129	215279129	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215279129A>G	uc002vet.2	+	c.212A>G	c.(211-213)CAT>CGT	p.H71R	VWC2L_uc010zjl.1_Missense_Mutation_p.H71R	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	71	VWFC 1.					extracellular region					0														0.428571	18.647862	18.710126	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215279129	215279129	17815	2	A	G	G	G	104	8	VWC2L	4	4
MARCH4	57574	broad.mit.edu	37	2	217234937	217234937	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217234937C>T	uc002vgb.2	-	c.47G>A	c.(46-48)TGC>TAC	p.C16Y		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	16						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)										0.416667	27.643905	27.78984	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217234937	217234937	9686	2	C	T	T	T	325	25	MARCH4	2	2
TNS1	7145	broad.mit.edu	37	2	218713785	218713785	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218713785T>A	uc002vgt.2	-	c.1080A>T	c.(1078-1080)CCA>CCT	p.P360P	TNS1_uc002vgr.2_Silent_p.P360P|TNS1_uc002vgs.2_Silent_p.P360P|TNS1_uc010zjv.1_Silent_p.P360P|TNS1_uc010fvj.1_Silent_p.P428P|TNS1_uc010fvk.1_Silent_p.P485P|TNS1_uc010fvi.1_Silent_p.P47P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	360						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)										0.494118	407.953493	407.960965	126	129	KEEP	---	---	---	---	capture		Silent	SNP	218713785	218713785	16884	2	T	A	A	A	756	59	TNS1	3	3
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219000386C>A	uc002vgz.1	+	c.862C>A	c.(862-864)CGC>AGC	p.R288S	CXCR2_uc002vha.1_Missense_Mutation_p.R288S|CXCR2_uc002vhb.1_Missense_Mutation_p.R288S	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	288	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)	1										62				0.530769	226.784796	226.892209	69	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219000386	219000386	4251	2	C	A	A	A	351	27	CXCR2	1	1
ZNF142	7701	broad.mit.edu	37	2	219507065	219507065	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219507065G>A	uc002vin.2	-	c.4174C>T	c.(4174-4176)CGG>TGG	p.R1392W	ZNF142_uc002vil.2_Missense_Mutation_p.R1353W|ZNF142_uc010fvt.2_Missense_Mutation_p.R1229W|ZNF142_uc002vim.2_Missense_Mutation_p.R1229W	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1392	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		Colon(170;867 1942 8995 15834 18053)								0.514124	262.049617	262.082192	91	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219507065	219507065	18322	2	G	A	A	A	493	38	ZNF142	1	1
IHH	3549	broad.mit.edu	37	2	219920102	219920102	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219920102G>A	uc002vjo.1	-	c.1063C>T	c.(1063-1065)CAC>TAC	p.H355Y		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	355					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity				0		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.477612	95.591823	95.621286	32	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219920102	219920102	7908	2	G	A	A	A	611	47	IHH	2	2
NHEJ1	79840	broad.mit.edu	37	2	219942919	219942919	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219942919C>T	uc002vjp.3	-	c.598G>A	c.(598-600)GAG>AAG	p.E200K	NHEJ1_uc002vjq.3_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	200					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)										0.35	65.662045	66.850851	21	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219942919	219942919	10802	2	C	T	T	T	416	32	NHEJ1	2	2
ANKZF1	55139	broad.mit.edu	37	2	220097894	220097894	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220097894G>C	uc002vkg.2	+	c.652G>C	c.(652-654)GCT>CCT	p.A218P	ANKZF1_uc010zkv.1_Missense_Mutation_p.A162P|ANKZF1_uc010zkw.1_Missense_Mutation_p.A8P|ANKZF1_uc002vkh.2_Missense_Mutation_p.A8P|ANKZF1_uc002vki.2_Missense_Mutation_p.A218P|ANKZF1_uc002vkj.1_Missense_Mutation_p.A206P	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	218						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.293103	264.18012	275.281548	85	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220097894	220097894	701	2	G	C	C	C	598	46	ANKZF1	3	3
KIAA1486	57624	broad.mit.edu	37	2	226273676	226273676	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:226273676G>C	uc002voe.2	+	c.80G>C	c.(79-81)GGG>GCG	p.G27A	KIAA1486_uc010fxa.1_Missense_Mutation_p.G22A	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	27										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)										0.419355	39.368322	39.544618	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226273676	226273676	8546	2	G	C	C	C	559	43	KIAA1486	3	3
C2orf83	56918	broad.mit.edu	37	2	228497784	228497784	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228497784C>A	uc002vph.2	-	c.18G>T	c.(16-18)CTG>CTT	p.L6L	C2orf83_uc010zlu.1_Silent_p.L6L	NM_020161	NP_064546	Q53S99	CB083_HUMAN	hypothetical protein LOC56918 isoform 1	6						membrane	folic acid binding|reduced folate carrier activity				0														0.413793	34.893228	35.081824	12	17	KEEP	---	---	---	---	capture		Silent	SNP	228497784	228497784	2290	2	C	A	A	A	366	29	C2orf83	2	2
PID1	55022	broad.mit.edu	37	2	230020567	230020567	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230020567C>G	uc002vpr.3	-	c.243G>C	c.(241-243)CCG>CCC	p.P81P	PID1_uc002vps.3_Silent_p.P79P|PID1_uc002vpt.3_Silent_p.P48P|PID1_uc002vpu.3_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	81						cytoplasm				breast(3)	3		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)										0.322222	96.754384	99.274432	29	61	KEEP	---	---	---	---	capture		Silent	SNP	230020567	230020567	12306	2	C	G	G	G	340	27	PID1	3	3
DIS3L2	129563	broad.mit.edu	37	2	232894773	232894773	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232894773C>T	uc010fxz.2	+	c.349C>T	c.(349-351)CCC>TCC	p.P117S	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vsn.1_Missense_Mutation_p.P117S|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	117							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)										0.565217	82.853413	83.023409	26	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232894773	232894773	4716	2	C	T	T	T	390	30	DIS3L2	2	2
SH3BP4	23677	broad.mit.edu	37	2	235949751	235949751	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235949751A>G	uc002vvp.2	+	c.338A>G	c.(337-339)AAC>AGC	p.N113S	SH3BP4_uc010fym.2_Missense_Mutation_p.N113S|SH3BP4_uc002vvq.2_Missense_Mutation_p.N113S	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	113	SH3.				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)										0.190476	21.075661	24.836422	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235949751	235949751	14737	2	A	G	G	G	26	2	SH3BP4	4	4
SCLY	51540	broad.mit.edu	37	2	239006934	239006934	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239006934G>C	uc010fyv.2	+	c.1276G>C	c.(1276-1278)GAG>CAG	p.E426Q	SCLY_uc002vxm.3_Missense_Mutation_p.E393Q|SCLY_uc010znq.1_Missense_Mutation_p.E220Q|SCLY_uc010znr.1_Missense_Mutation_p.E332Q|SCLY_uc002vxp.3_Non-coding_Transcript|ESPNL_uc002vxq.3_5'Flank	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	selenocysteine lyase	426					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			ovary(2)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)								0.470588	56.598323	56.62387	16	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239006934	239006934	14389	2	G	C	C	C	481	37	SCLY	3	3
KLHL30	377007	broad.mit.edu	37	2	239059471	239059471	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239059471G>A	uc002vxr.1	+	c.1448G>A	c.(1447-1449)AGC>AAC	p.S483N		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	kelch-like 30	501	Kelch 5.										0		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)										0.571429	10.321252	10.341276	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239059471	239059471	8697	2	G	A	A	A	442	34	KLHL30	2	2
ANKMY1	51281	broad.mit.edu	37	2	241439489	241439489	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241439489C>A	uc010fzd.1	-	c.2692G>T	c.(2692-2694)GAG>TAG	p.E898*	ANKMY1_uc002vyz.1_Nonsense_Mutation_p.E809*|ANKMY1_uc002vza.1_Nonsense_Mutation_p.E585*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E570*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E588*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E632*	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	809							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)										0.448276	40.772508	40.839908	13	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	241439489	241439489	637	2	C	A	A	A	403	31	ANKMY1	5	1
DUSP28	285193	broad.mit.edu	37	2	241500167	241500167	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241500167C>G	uc002vzg.2	+	c.66C>G	c.(64-66)GTC>GTG	p.V22V	ANKMY1_uc002vyz.1_5'Flank|ANKMY1_uc002vza.1_5'Flank|ANKMY1_uc010fzd.1_5'Flank|ANKMY1_uc002vzb.1_5'Flank|ANKMY1_uc002vzc.1_5'Flank|ANKMY1_uc002vzd.1_5'UTR|ANKMY1_uc010fze.1_5'UTR|ANKMY1_uc002vze.2_5'UTR|ANKMY1_uc002vzf.2_5'UTR|DUSP28_uc002vzh.2_Silent_p.V22V	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	22							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		Pancreas(150;1630 2604 23402 46829)								0.428571	10.526328	10.556899	3	4	KEEP	---	---	---	---	capture		Silent	SNP	241500167	241500167	5010	2	C	G	G	G	392	31	DUSP28	3	3
NCOA1	8648	broad.mit.edu	37	2	24920559	24920559	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24920559A>G	uc002rfk.2	+	c.841A>G	c.(841-843)AGA>GGA	p.R281G	NCOA1_uc010eye.2_Missense_Mutation_p.R281G|NCOA1_uc002rfi.2_Missense_Mutation_p.R130G|NCOA1_uc002rfj.2_Missense_Mutation_p.R281G|NCOA1_uc002rfl.2_Missense_Mutation_p.R281G	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	281									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)									334				0.333333	23.519328	24.035277	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24920559	24920559	10627	2	A	G	G	G	140	11	NCOA1	4	4
GPR113	165082	broad.mit.edu	37	2	26533740	26533740	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26533740C>T	uc002rhe.3	-	c.2856G>A	c.(2854-2856)CTG>CTA	p.L952L	GPR113_uc010yky.1_Silent_p.L883L|GPR113_uc002rhb.1_Silent_p.L555L|GPR113_uc010eyk.1_Silent_p.L753L|GPR113_uc002rhc.1_Silent_p.L555L|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	952	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.384615	27.842349	28.146334	10	16	KEEP	---	---	---	---	capture		Silent	SNP	26533740	26533740	6904	2	C	T	T	T	366	29	GPR113	2	2
SLC30A3	7781	broad.mit.edu	37	2	27481775	27481775	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27481775G>T	uc002rjk.2	-	c.123C>A	c.(121-123)CTC>CTA	p.L41L	SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Silent_p.L36L	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	41	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.555556	44.124929	44.197106	15	12	KEEP	---	---	---	---	capture		Silent	SNP	27481775	27481775	15053	2	G	T	T	T	522	41	SLC30A3	2	2
ZNF513	130557	broad.mit.edu	37	2	27603003	27603003	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27603003G>C	uc002rkk.2	-	c.168C>G	c.(166-168)GAC>GAG	p.D56E	ZNF513_uc002rkj.2_5'UTR	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	56	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	promoter binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.156069	59.324563	78.853542	27	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27603003	27603003	18552	2	G	C	C	C	516	40	ZNF513	3	3
C2orf16	84226	broad.mit.edu	37	2	27800472	27800472	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27800472G>C	uc002rkz.3	+	c.1033G>C	c.(1033-1035)GAT>CAT	p.D345H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	345										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.194444	19.003302	22.138607	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27800472	27800472	2243	2	G	C	C	C	429	33	C2orf16	3	3
XDH	7498	broad.mit.edu	37	2	31595220	31595220	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31595220G>A	uc002rnv.1	-	c.1730C>T	c.(1729-1731)CCC>CTC	p.P577L		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	577					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.176471	83.504566	105.294206	39	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31595220	31595220	18007	2	G	A	A	A	559	43	XDH	2	2
LTBP1	4052	broad.mit.edu	37	2	33172863	33172863	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33172863C>T	uc002ros.2	+	c.472C>T	c.(472-474)CAC>TAC	p.H158Y		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	158					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)												0.470588	22.397924	22.410746	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33172863	33172863	9449	2	C	T	T	T	377	29	LTBP1	2	2
COLEC11	78989	broad.mit.edu	37	2	3685153	3685153	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3685153G>T	uc002qya.2	+	c.233G>T	c.(232-234)AGT>ATT	p.S78I	COLEC11_uc002qxz.2_Missense_Mutation_p.S75I|COLEC11_uc002qyb.2_Missense_Mutation_p.S54I|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.S52I|COLEC11_uc010ewq.2_Missense_Mutation_p.S28I|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	78	Collagen-like.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)										0.454545	63.995064	64.074284	20	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3685153	3685153	3849	2	G	T	T	T	468	36	COLEC11	2	2
ALLC	55821	broad.mit.edu	37	2	3726108	3726108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:3726108G>A	uc010ewt.2	+	c.135G>A	c.(133-135)TGG>TGA	p.W45*		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	allantoicase isoform a	64							allantoicase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)										0.608696	46.454297	46.691993	14	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3726108	3726108	537	2	G	A	A	A	533	41	ALLC	5	2
HNRPLL	92906	broad.mit.edu	37	2	38796436	38796436	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38796436C>A	uc002rqw.2	-	c.1255G>T	c.(1255-1257)GAG>TAG	p.E419*	HNRPLL_uc002rqv.2_Nonsense_Mutation_p.E114*|HNRPLL_uc002rqx.2_Nonsense_Mutation_p.E414*	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	419					mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0		all_hematologic(82;0.248)												0.36	25.871238	26.301251	9	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38796436	38796436	7569	2	C	A	A	A	377	29	HNRPLL	5	2
DHX57	90957	broad.mit.edu	37	2	39088536	39088536	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39088536T>G	uc002rrf.2	-	c.1016A>C	c.(1015-1017)GAT>GCT	p.D339A	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Missense_Mutation_p.D339A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	339							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)	2		all_hematologic(82;0.248)				Melanoma(191;1090 2095 4375 23729 47341)								0.416667	35.74711	35.892336	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39088536	39088536	4692	2	T	G	G	G	650	50	DHX57	4	4
EML4	27436	broad.mit.edu	37	2	42511835	42511835	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42511835G>C	uc002rsi.2	+	c.1003G>C	c.(1003-1005)GAT>CAT	p.D335H	EML4_uc010fap.2_Missense_Mutation_p.D277H|EML4_uc002rsj.2_5'Flank	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	335	WD 1.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(191)	lung(191)|ovary(2)|central_nervous_system(1)	194										780				0.2	16.932105	19.443328	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42511835	42511835	5291	2	G	C	C	C	429	33	EML4	3	3
SLC3A1	6519	broad.mit.edu	37	2	44503035	44503035	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44503035G>T	uc002ruc.3	+	c.361G>T	c.(361-363)GGG>TGG	p.G121W	SLC3A1_uc002rty.2_Missense_Mutation_p.G121W|SLC3A1_uc002rtz.2_Missense_Mutation_p.G121W|SLC3A1_uc002rua.2_Missense_Mutation_p.G121W|SLC3A1_uc002rub.2_Missense_Mutation_p.G121W	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	121	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)									0.424242	116.463529	116.972531	42	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44503035	44503035	15123	2	G	T	T	T	559	43	SLC3A1	2	2
BCL11A	53335	broad.mit.edu	37	2	60688050	60688050	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60688050G>C	uc002sae.1	-	c.1997C>G	c.(1996-1998)TCC>TGC	p.S666C	BCL11A_uc002sab.2_Missense_Mutation_p.S666C|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.S335C|BCL11A_uc010ypj.1_Missense_Mutation_p.S632C|BCL11A_uc002sad.1_Missense_Mutation_p.S514C|BCL11A_uc002saf.1_Missense_Mutation_p.S632C	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	666					protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.365385	65.315168	66.142321	19	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60688050	60688050	1384	2	G	C	C	C	533	41	BCL11A	3	3
TMEM18	129787	broad.mit.edu	37	2	669766	669766	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:669766C>G	uc002qwl.2	-	c.318G>C	c.(316-318)ATG>ATC	p.M106I	TMEM18_uc002qwk.2_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	106	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)										0.371429	46.066417	46.574659	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	669766	669766	16632	2	C	G	G	G	377	29	TMEM18	3	3
CMPK2	129607	broad.mit.edu	37	2	7001425	7001425	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:7001425G>C	uc002qyo.2	-	c.882C>G	c.(880-882)ATC>ATG	p.I294M	CMPK2_uc010yis.1_Missense_Mutation_p.I294M|CMPK2_uc010ewv.2_Missense_Mutation_p.I294M	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	UMP-CMP kinase 2 precursor	294					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.2	18.504414	21.434115	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7001425	7001425	3719	2	G	C	C	C	421	33	CMPK2	3	3
CLEC4F	165530	broad.mit.edu	37	2	71039605	71039605	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71039605C>A	uc002shf.2	-	c.1513G>T	c.(1513-1515)GCA>TCA	p.A505S	CLEC4F_uc010yqv.1_Missense_Mutation_p.A505S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	505	Extracellular (Potential).|C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						Colon(107;10 2157 6841 26035)								0.534247	125.530029	125.604558	39	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71039605	71039605	3654	2	C	A	A	A	338	26	CLEC4F	2	2
INO80B	83444	broad.mit.edu	37	2	74682559	74682559	+	Missense_Mutation	SNP	G	T	T	rs115610738	by1000genomes	TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74682559G>T	uc010yrs.1	+	c.139G>T	c.(139-141)GGT>TGT	p.G47C	INO80B_uc002slf.1_Missense_Mutation_p.G16C|INO80B_uc002slg.2_Missense_Mutation_p.G29C|INO80B_uc010yrr.1_Missense_Mutation_p.G16C|WBP1_uc002slh.1_Non-coding_Transcript|INO80B_uc002sli.1_Non-coding_Transcript	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	high mobility group AT-hook 1-like 4	29						nucleolus	metal ion binding|protein binding			pancreas(1)	1														0.194444	28.304414	34.579061	14	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74682559	74682559	8048	2	G	T	T	T	559	43	INO80B	2	2
HK2	3099	broad.mit.edu	37	2	75107651	75107651	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:75107651G>A	uc002snd.2	+	c.1525G>A	c.(1525-1527)GTC>ATC	p.V509I		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	509	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2														0.285714	35.6311	37.6495	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75107651	75107651	7482	2	G	A	A	A	520	40	HK2	1	1
THNSL2	55258	broad.mit.edu	37	2	88482504	88482504	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88482504C>T	uc002ssz.3	+	c.989C>T	c.(988-990)TCT>TTT	p.S330F	THNSL2_uc002ssv.2_Non-coding_Transcript|THNSL2_uc002ssw.3_Missense_Mutation_p.S330F|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Missense_Mutation_p.S172F|THNSL2_uc002ssy.3_Missense_Mutation_p.S330F|THNSL2_uc010fhe.2_Missense_Mutation_p.S172F	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	330					threonine biosynthetic process		threonine synthase activity			ovary(1)	1														0.259259	18.911598	20.329437	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88482504	88482504	16391	2	C	T	T	T	416	32	THNSL2	2	2
KIDINS220	57498	broad.mit.edu	37	2	8888088	8888088	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8888088C>G	uc002qzc.2	-	c.3457G>C	c.(3457-3459)GGC>CGC	p.G1153R	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_Missense_Mutation_p.G26R|KIDINS220_uc002qze.2_3'UTR	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1153	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.4	17.139392	17.272531	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8888088	8888088	8582	2	C	G	G	G	273	21	KIDINS220	3	3
RPIA	22934	broad.mit.edu	37	2	89035252	89035252	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:89035252C>G	uc002ste.2	+	c.594C>G	c.(592-594)TTC>TTG	p.F198L		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	198					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)												0.33758	179.327137	182.989963	53	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89035252	89035252	14032	2	C	G	G	G	376	29	RPIA	3	3
MRPS5	64969	broad.mit.edu	37	2	95756262	95756262	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95756262C>A	uc002sub.2	-	c.937G>T	c.(937-939)GGC>TGC	p.G313C	MRPS5_uc002suc.2_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	313					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3														0.241379	72.89322	79.937066	28	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95756262	95756262	10239	2	C	A	A	A	299	23	MRPS5	1	1
FER1L5	90342	broad.mit.edu	37	2	97368993	97368993	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97368993C>T	uc010fia.2	+	c.5709C>T	c.(5707-5709)ATC>ATT	p.I1903I	FER1L5_uc002sws.3_Silent_p.I612I|FER1L5_uc002swt.3_Silent_p.I612I|FER1L5_uc010yus.1_Silent_p.I611I	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1903						integral to membrane				ovary(1)	1														0.277108	119.482727	126.902288	46	120	KEEP	---	---	---	---	capture		Silent	SNP	97368993	97368993	6051	2	C	T	T	T	382	30	FER1L5	2	2
MORC1	27136	broad.mit.edu	37	3	108778673	108778673	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108778673C>T	uc003dxl.2	-	c.1011G>A	c.(1009-1011)AAG>AAA	p.K337K	MORC1_uc011bhn.1_Silent_p.K337K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	337	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.4	17.945943	18.077436	6	9	KEEP	---	---	---	---	capture		Silent	SNP	108778673	108778673	10092	3	C	T	T	T	415	32	MORC1	2	2
SLC6A11	6538	broad.mit.edu	37	3	10967706	10967706	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10967706T>C	uc003bvz.2	+	c.1137T>C	c.(1135-1137)TTT>TTC	p.F379F		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	379					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.229)										0.236842	241.356117	262.962009	81	261	KEEP	---	---	---	---	capture		Silent	SNP	10967706	10967706	15171	3	T	C	C	C	790	61	SLC6A11	4	4
DRD3	1814	broad.mit.edu	37	3	113866313	113866313	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113866313C>A	uc003ebd.2	-	c.475G>T	c.(475-477)GTA>TTA	p.V159L	DRD3_uc010hqn.1_Missense_Mutation_p.V159L|DRD3_uc003ebb.1_Missense_Mutation_p.V159L|DRD3_uc003ebc.1_Missense_Mutation_p.V159L	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	159	Helical; Name=4.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|dopamine metabolic process|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|regulation of dopamine uptake|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)									0.522059	223.023834	223.08106	71	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113866313	113866313	4942	3	C	A	A	A	234	18	DRD3	2	2
GOLGB1	2804	broad.mit.edu	37	3	121417151	121417151	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121417151T>C	uc010hrc.2	-	c.2219A>G	c.(2218-2220)AAC>AGC	p.N740S	GOLGB1_uc003eei.3_Missense_Mutation_p.N735S|GOLGB1_uc003eej.3_Missense_Mutation_p.N701S|GOLGB1_uc011bjm.1_Missense_Mutation_p.N621S|GOLGB1_uc010hrd.1_Missense_Mutation_p.N699S	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	735	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)	8				GBM - Glioblastoma multiforme(114;0.0989)										0.26087	37.579523	39.959714	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121417151	121417151	6838	3	T	C	C	C	780	60	GOLGB1	4	4
SEMA5B	54437	broad.mit.edu	37	3	122630855	122630855	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122630855G>C	uc003efz.1	-	c.2958C>G	c.(2956-2958)AGC>AGG	p.S986R	SEMA5B_uc011bju.1_Missense_Mutation_p.S892R|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.S986R|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	986	Extracellular (Potential).|TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.297297	34.809709	36.169477	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122630855	122630855	14524	3	G	C	C	C	542	42	SEMA5B	3	3
KALRN	8997	broad.mit.edu	37	3	124103792	124103792	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124103792T>A	uc003ehg.2	+	c.1865T>A	c.(1864-1866)CTG>CAG	p.L622Q	KALRN_uc010hrv.1_Missense_Mutation_p.L622Q|KALRN_uc003ehf.1_Missense_Mutation_p.L622Q|KALRN_uc011bjy.1_Missense_Mutation_p.L622Q|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	622	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.295082	48.825909	51.117752	18	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124103792	124103792	8279	3	T	A	A	A	715	55	KALRN	3	3
KALRN	8997	broad.mit.edu	37	3	124398361	124398361	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124398361G>A	uc003ehg.2	+	c.7374G>A	c.(7372-7374)ATG>ATA	p.M2458I	KALRN_uc003ehk.2_Missense_Mutation_p.M761I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2457					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.177419	22.884075	28.963311	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124398361	124398361	8279	3	G	A	A	A	611	47	KALRN	2	2
KALRN	8997	broad.mit.edu	37	3	124431933	124431933	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124431933C>T	uc003ehg.2	+	c.8227C>T	c.(8227-8229)CTC>TTC	p.L2743F	KALRN_uc003ehk.2_Missense_Mutation_p.L1046F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2742	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.216216	18.777995	21.528391	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124431933	124431933	8279	3	C	T	T	T	416	32	KALRN	2	2
OSBPL11	114885	broad.mit.edu	37	3	125286264	125286264	+	Nonsense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125286264G>C	uc003eic.2	-	c.842C>G	c.(841-843)TCA>TGA	p.S281*		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	281					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5														0.197674	49.02449	56.34338	17	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125286264	125286264	11687	3	G	C	C	C	585	45	OSBPL11	5	3
EEFSEC	60678	broad.mit.edu	37	3	128060645	128060645	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128060645C>T	uc003eki.2	+	c.1356C>T	c.(1354-1356)CAC>CAT	p.H452H	EEFSEC_uc003ekj.2_Silent_p.H397H	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	452						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1														0.365079	64.615932	65.621253	23	40	KEEP	---	---	---	---	capture		Silent	SNP	128060645	128060645	5118	3	C	T	T	T	246	19	EEFSEC	1	1
COLQ	8292	broad.mit.edu	37	3	15495391	15495391	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15495391C>T	uc003bzx.2	-	c.1243G>A	c.(1243-1245)GAG>AAG	p.E415K	COLQ_uc003bzv.2_Missense_Mutation_p.E405K|COLQ_uc003bzz.2_Missense_Mutation_p.E406K|COLQ_uc010heo.2_Missense_Mutation_p.E381K|COLQ_uc003cac.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.E274K|COLQ_uc003cad.1_Non-coding_Transcript	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	415					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synapse					0														0.26087	15.738775	16.929695	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15495391	15495391	3851	3	C	T	T	T	390	30	COLQ	2	2
PLCH1	23007	broad.mit.edu	37	3	155215184	155215184	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155215184T>A	uc011bok.1	-	c.1783A>T	c.(1783-1785)ATG>TTG	p.M595L	PLCH1_uc011boj.1_Missense_Mutation_p.M595L|PLCH1_uc011bol.1_Missense_Mutation_p.M577L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	595					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)											0.208955	34.410988	39.668321	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155215184	155215184	12463	3	T	A	A	A	663	51	PLCH1	3	3
SLC33A1	9197	broad.mit.edu	37	3	155571195	155571195	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155571195C>G	uc003fan.3	-	c.592G>C	c.(592-594)GAT>CAT	p.D198H	SLC33A1_uc003fao.1_Missense_Mutation_p.D198H	NM_004733	NP_004724	O00400	ACATN_HUMAN	acetyl-coenzyme A transporter	198	Cytoplasmic (Potential).				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			ovary(2)|large_intestine(1)|pancreas(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)											0.2	27.825269	32.00686	10	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155571195	155571195	15063	3	C	G	G	G	403	31	SLC33A1	3	3
GMPS	8833	broad.mit.edu	37	3	155615825	155615825	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155615825A>G	uc003faq.2	+	c.319A>G	c.(319-321)ATG>GTG	p.M107V	GMPS_uc011bom.1_Intron	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	107	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(153;896 1876 4149 15499 28134)				552				0.191304	57.387742	67.622025	22	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155615825	155615825	6767	3	A	G	G	G	208	16	GMPS	4	4
SHOX2	6474	broad.mit.edu	37	3	157820536	157820536	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:157820536G>T	uc003fbs.2	-	c.558C>A	c.(556-558)ACC>ACA	p.T186T	SHOX2_uc010hvw.2_Silent_p.T162T|SHOX2_uc003fbr.2_Silent_p.T162T	NM_003030	NP_003021	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform b	162	Homeobox.				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)											0.527397	231.36964	231.464086	77	69	KEEP	---	---	---	---	capture		Silent	SNP	157820536	157820536	14784	3	G	T	T	T	548	43	SHOX2	2	2
NLGN1	22871	broad.mit.edu	37	3	173998896	173998896	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173998896C>T	uc003fio.1	+	c.2275C>T	c.(2275-2277)CCC>TCC	p.P759S	NLGN1_uc003fip.1_Missense_Mutation_p.P759S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.45614	77.745748	77.840499	26	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173998896	173998896	10864	3	C	T	T	T	390	30	NLGN1	2	2
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184102332G>C	uc003fov.2	+	c.1448G>C	c.(1447-1449)GGT>GCT	p.G483A	CHRD_uc003fow.2_Missense_Mutation_p.G113A|CHRD_uc003fox.2_Missense_Mutation_p.G483A|CHRD_uc003foy.2_Missense_Mutation_p.G113A|CHRD_uc010hyc.2_Missense_Mutation_p.G73A|CHRD_uc011brr.1_Missense_Mutation_p.G113A	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	483	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.54023	692.615096	693.103921	188	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184102332	184102332	3506	3	G	C	C	C	572	44	CHRD	3	3
C3orf70	285382	broad.mit.edu	37	3	184801039	184801039	+	Nonsense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184801039G>C	uc003fpd.2	-	c.509C>G	c.(508-510)TCA>TGA	p.S170*		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	hypothetical protein LOC285382	170											0														0.310811	73.893805	76.255077	23	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	184801039	184801039	2335	3	G	C	C	C	585	45	C3orf70	5	3
RTP4	64108	broad.mit.edu	37	3	187088747	187088747	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187088747T>C	uc003frm.2	+	c.327T>C	c.(325-327)GAT>GAC	p.D109D		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	109	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)										0.2	19.106812	22.03464	7	28	KEEP	---	---	---	---	capture		Silent	SNP	187088747	187088747	14216	3	T	C	C	C	634	49	RTP4	4	4
BCL6	604	broad.mit.edu	37	3	187447552	187447552	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187447552C>A	uc003frp.3	-	c.641G>T	c.(640-642)CGG>CTG	p.R214L	BCL6_uc011bsf.1_Missense_Mutation_p.R214L|BCL6_uc010hza.2_Missense_Mutation_p.R112L|BCL6_uc003frq.1_Missense_Mutation_p.R214L	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	214					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)						277				0.171053	25.326038	33.10344	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187447552	187447552	1397	3	C	A	A	A	299	23	BCL6	1	1
OPA1	4976	broad.mit.edu	37	3	193364866	193364866	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193364866A>G	uc003ftg.2	+	c.1767A>G	c.(1765-1767)CTA>CTG	p.L589L	OPA1_uc003fth.2_Silent_p.L553L|OPA1_uc003fti.2_Silent_p.L571L|OPA1_uc003ftj.2_Silent_p.L552L|OPA1_uc003ftk.2_Silent_p.L535L|OPA1_uc003ftl.2_Silent_p.L516L|OPA1_uc003ftm.2_Silent_p.L534L|OPA1_uc003ftn.2_Silent_p.L498L	NM_130837	NP_570850	O60313	OPA1_HUMAN	optic atrophy 1 isoform 8	534	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)										0.606061	76.50907	76.834663	20	13	KEEP	---	---	---	---	capture		Silent	SNP	193364866	193364866	11277	3	A	G	G	G	158	13	OPA1	4	4
LRRC15	131578	broad.mit.edu	37	3	194080147	194080147	+	Silent	SNP	G	T	T	rs113394891		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194080147G>T	uc003ftt.2	-	c.1644C>A	c.(1642-1644)GCC>GCA	p.A548A	LRRC15_uc003ftu.2_Silent_p.A542A	NM_001135057	NP_001128529	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform a	542	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)										0.589595	330.527669	331.762897	102	71	KEEP	---	---	---	---	capture		Silent	SNP	194080147	194080147	9344	3	G	T	T	T	496	39	LRRC15	1	1
ARPP21	10777	broad.mit.edu	37	3	35778819	35778819	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35778819C>A	uc011axy.1	+	c.1507C>A	c.(1507-1509)CCG>ACG	p.P503T	ARPP21_uc003cga.2_Missense_Mutation_p.P483T|ARPP21_uc003cgb.2_Missense_Mutation_p.P537T|ARPP21_uc003cgf.2_Missense_Mutation_p.P338T|ARPP21_uc003cgg.2_Missense_Mutation_p.P25T	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	537	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)	2														0.212766	21.2096	24.732225	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35778819	35778819	996	3	C	A	A	A	234	18	ARPP21	2	2
TTC21A	199223	broad.mit.edu	37	3	39161449	39161449	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39161449G>T	uc003cje.2	+	c.862G>T	c.(862-864)GAG>TAG	p.E288*	TTC21A_uc003cjc.2_Nonsense_Mutation_p.E288*|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayx.1_Nonsense_Mutation_p.E239*	NM_001105513	NP_001098983	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 1	288							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)										0.224138	27.438231	31.501455	13	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39161449	39161449	17241	3	G	T	T	T	429	33	TTC21A	5	2
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:41266113C>G	uc010hia.1	+	c.110C>G	c.(109-111)TCT>TGT	p.S37C	CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	37			S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|patterning of blood vessels|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|promoter binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription repressor activity	p.S37F(145)|p.S37C(122)|p.A5_A80del(74)|p.S37Y(23)|p.H24_S47del(18)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(5)|p.V22_L139>V(4)|p.V22_G38del(3)|p.A5_Q72del(2)|p.A20_Q143del(2)|p.T3_A126del(2)|p.A5_R90del(2)|p.E9_S47del(2)|p.M8_G50del(2)|p.A5fs*7(2)|p.D6_A43del(2)|p.A5_D144>D(2)|p.V22_G80>NNNNN(2)|p.A5_T42del(2)|p.D6_K133del(2)|p.M5_N141>D(2)|p.W25_A80del(2)|p.?(2)|p.D17_P128del(2)|p.A20_R151del(2)|p.E9_A80del(2)|p.K19_Y142>V(2)|p.D17_A126del(2)|p.W25_H36del(2)|p.A20_L148del(2)|p.V22_A80del(2)|p.L7_I140del(2)|p.E9_I140del(2)|p.A20_Q72del(2)|p.D6_I140del(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Q28_I140del(2)|p.M1_T42del(2)|p.S23_I140del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.D32_S47del(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.S37P(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S23_S33del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.G34_S37del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)		liver(787)|soft_tissue(609)|large_intestine(228)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(127)|ovary(101)|skin(97)|pancreas(91)|pituitary(81)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|adrenal_gland(49)|biliary_tract(41)|lung(33)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|salivary_gland(2)|eye(1)	3016				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	Colon(6;3 56 14213 18255)	S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM)	15	p.S37C(SNU398-Tumor)|p.S37C(JHUEM2-Tumor)	237				0.25	15.065951	16.201632	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41266113	41266113	4175	3	C	G	G	G	416	32	CTNNB1	3	3
TDGF1	6997	broad.mit.edu	37	3	46620584	46620584	+	Splice_Site_SNP	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46620584G>C	uc003cpv.2	+	c.36_splice	c.e2-1	p.S12_splice	LRRC2_uc003cpu.3_Intron	NM_003212	NP_003203			teratocarcinoma-derived growth factor 1						activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity				0				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)										0.232877	49.03507	53.805292	17	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	46620584	46620584	16252	3	G	C	C	C	468	36	TDGF1	5	3
APEH	327	broad.mit.edu	37	3	49720763	49720763	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49720763C>G	uc010hkw.1	+	c.2202C>G	c.(2200-2202)CAC>CAG	p.H734Q	APEH_uc003cxf.2_Missense_Mutation_p.H729Q	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	729					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)										0.162162	39.393151	51.427185	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49720763	49720763	778	3	C	G	G	G	259	20	APEH	3	3
CAMKV	79012	broad.mit.edu	37	3	49897671	49897671	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49897671G>C	uc003cxt.1	-	c.875C>G	c.(874-876)TCT>TGT	p.S292C	CAMKV_uc011bcy.1_Missense_Mutation_p.S217C|CAMKV_uc003cxv.1_Missense_Mutation_p.S264C|CAMKV_uc003cxw.1_Missense_Mutation_p.S124C|CAMKV_uc003cxx.1_Missense_Mutation_p.S124C|CAMKV_uc003cxu.2_Missense_Mutation_p.S292C|CAMKV_uc011bcz.1_Missense_Mutation_p.S255C|CAMKV_uc011bda.1_Missense_Mutation_p.S249C|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	292					protein phosphorylation	cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)						82				0.270833	40.752869	43.026743	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49897671	49897671	2725	3	G	C	C	C	429	33	CAMKV	3	3
DOCK3	1795	broad.mit.edu	37	3	51392312	51392312	+	Splice_Site_SNP	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51392312G>A	uc011bds.1	+	c.4108_splice	c.e41-1	p.N1370_splice		NM_004947	NP_004938			dedicator of cytokinesis 3							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)						1034				0.222222	61.239314	68.90708	24	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	51392312	51392312	4872	3	G	A	A	A	429	33	DOCK3	5	2
TLR9	54106	broad.mit.edu	37	3	52257047	52257047	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52257047C>A	uc003ddb.2	-	c.1576G>T	c.(1576-1578)GGA>TGA	p.G526*	TLR9_uc003dda.1_Nonsense_Mutation_p.G429*	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	429	LRR 14.|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				0.254237	115.507367	125.199236	45	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52257047	52257047	16488	3	C	A	A	A	299	23	TLR9	5	1
GLYCTK	132158	broad.mit.edu	37	3	52324415	52324415	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52324415C>G	uc003ddo.2	+	c.57C>G	c.(55-57)CTC>CTG	p.L19L	GLYCTK_uc003ddq.2_Silent_p.L19L|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.L19L|GLYCTK_uc003ddr.2_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	19					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)										0.236842	27.256122	29.660572	9	29	KEEP	---	---	---	---	capture		Silent	SNP	52324415	52324415	6751	3	C	G	G	G	379	30	GLYCTK	3	3
DNAH1	25981	broad.mit.edu	37	3	52429689	52429689	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52429689G>T	uc011bef.1	+	c.11254G>T	c.(11254-11256)GAC>TAC	p.D3752Y	DNAH1_uc003ddv.2_Missense_Mutation_p.D610Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3817	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.294118	12.767641	13.412948	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52429689	52429689	4779	3	G	T	T	T	481	37	DNAH1	1	1
FLNB	2317	broad.mit.edu	37	3	58116633	58116633	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58116633G>C	uc010hne.2	+	c.4388G>C	c.(4387-4389)CGA>CCA	p.R1463P	FLNB_uc003djj.2_Missense_Mutation_p.R1463P|FLNB_uc003djk.2_Missense_Mutation_p.R1463P|FLNB_uc010hnf.2_Missense_Mutation_p.R1463P|FLNB_uc003djl.2_Missense_Mutation_p.R1294P|FLNB_uc003djm.2_Missense_Mutation_p.R1294P	NM_001164317	NP_001157789	O75369	FLNB_HUMAN	filamin B isoform 1	1463	Filamin 13.|Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(6)|ovary(3)	9				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)						676				0.333333	27.892582	28.482706	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58116633	58116633	6176	3	G	C	C	C	481	37	FLNB	3	3
EPHA6	285220	broad.mit.edu	37	3	96706570	96706570	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706570C>G	uc010how.1	+	c.847C>G	c.(847-849)CAA>GAA	p.Q283E	EPHA6_uc003drp.1_Missense_Mutation_p.Q283E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	188	Ephrin-binding.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.49375	288.222835	288.228281	79	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96706570	96706570	5364	3	C	G	G	G	377	29	EPHA6	3	3
PAPSS1	9061	broad.mit.edu	37	4	108576016	108576016	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:108576016C>A	uc003hyk.2	-	c.936G>T	c.(934-936)GCG>GCT	p.A312A	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	312	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)										0.453125	92.666066	92.788622	29	35	KEEP	---	---	---	---	capture		Silent	SNP	108576016	108576016	11851	4	C	A	A	A	392	31	PAPSS1	1	1
NEUROG2	63973	broad.mit.edu	37	4	113436310	113436310	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113436310G>T	uc003ias.2	-	c.322C>A	c.(322-324)CGC>AGC	p.R108S		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	108					transcription, DNA-dependent	nucleus	transcription regulator activity			central_nervous_system(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)										0.377358	60.092601	60.790054	20	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113436310	113436310	10753	4	G	T	T	T	494	38	NEUROG2	1	1
NDST4	64579	broad.mit.edu	37	4	115750957	115750957	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115750957T>C	uc003ibu.2	-	c.2488A>G	c.(2488-2490)ATG>GTG	p.M830V	NDST4_uc010imw.2_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	830	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.533333	27.301204	27.315734	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115750957	115750957	10657	4	T	C	C	C	637	49	NDST4	4	4
NDST4	64579	broad.mit.edu	37	4	115769466	115769466	+	Silent	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115769466A>T	uc003ibu.2	-	c.1845T>A	c.(1843-1845)CTT>CTA	p.L615L	NDST4_uc010imw.2_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	615	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.363636	22.694047	23.053947	8	14	KEEP	---	---	---	---	capture		Silent	SNP	115769466	115769466	10657	4	A	T	T	T	158	13	NDST4	3	3
SPON2	10417	broad.mit.edu	37	4	1165838	1165838	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1165838C>T	uc003gcn.3	-	c.22G>A	c.(22-24)GCC>ACC	p.A8T	SPON2_uc003gco.3_Missense_Mutation_p.A8T|SPON2_uc010ibr.2_Missense_Mutation_p.A8T|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	8					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)										0.212121	15.207366	17.735321	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1165838	1165838	15596	4	C	T	T	T	351	27	SPON2	1	1
PRDM5	11107	broad.mit.edu	37	4	121738051	121738051	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:121738051G>C	uc003idn.2	-	c.679C>G	c.(679-681)CTA>GTA	p.L227V	PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	227					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	promoter binding|repressing transcription factor binding|specific transcriptional repressor activity|zinc ion binding			central_nervous_system(1)|pancreas(1)	2														0.222222	41.315455	45.787173	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121738051	121738051	12902	4	G	C	C	C	425	33	PRDM5	3	3
TNIP3	79931	broad.mit.edu	37	4	122063033	122063033	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122063033G>T	uc010ing.2	-	c.823C>A	c.(823-825)CAC>AAC	p.H275N	TNIP3_uc010inh.2_Missense_Mutation_p.H275N|TNIP3_uc011cgj.1_Missense_Mutation_p.H333N	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	275										ovary(1)	1														0.384615	28.844359	29.147634	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122063033	122063033	16857	4	G	T	T	T	611	47	TNIP3	2	2
SLC25A31	83447	broad.mit.edu	37	4	128651782	128651782	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128651782G>A	uc003ifl.2	+	c.82G>A	c.(82-84)GGA>AGA	p.G28R		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	28	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0														0.52	124.126252	124.152288	39	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128651782	128651782	14992	4	G	A	A	A	507	39	SLC25A31	1	1
MFSD8	256471	broad.mit.edu	37	4	128843023	128843023	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128843023T>A	uc003ifp.2	-	c.1094A>T	c.(1093-1095)CAG>CTG	p.Q365L	MFSD8_uc011cgu.1_Missense_Mutation_p.Q320L|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Non-coding_Transcript	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	365	Extracellular (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.4	24.296177	24.471034	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128843023	128843023	9928	4	T	A	A	A	715	55	MFSD8	3	3
PCDH10	57575	broad.mit.edu	37	4	134072994	134072994	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134072994C>G	uc003iha.2	+	c.1699C>G	c.(1699-1701)CAA>GAA	p.Q567E	PCDH10_uc003igz.2_Missense_Mutation_p.Q567E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	567	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.424528	151.262184	151.78791	45	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134072994	134072994	11927	4	C	G	G	G	377	29	PCDH10	3	3
SCOC	60592	broad.mit.edu	37	4	141302217	141302217	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141302217A>G	uc003iif.2	+	c.439A>G	c.(439-441)AGT>GGT	p.S147G	SCOC_uc003iib.2_Missense_Mutation_p.S110G|SCOC_uc011che.1_Missense_Mutation_p.S110G|SCOC_uc003iid.2_Missense_Mutation_p.S109G|SCOC_uc011chf.1_Missense_Mutation_p.S110G|SCOC_uc011chg.1_Missense_Mutation_p.S82G|SCOC_uc011chh.1_Missense_Mutation_p.S146G|SCOC_uc003iig.2_Missense_Mutation_p.S119G	NM_001153484	NP_001146956	Q9UIL1	SCOC_HUMAN	short coiled-coil protein isoform 1	147						Golgi apparatus|nucleus	protein binding				0	all_hematologic(180;0.162)													0.4	19.947509	20.078543	6	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141302217	141302217	14415	4	A	G	G	G	195	15	SCOC	4	4
ZNF330	27309	broad.mit.edu	37	4	142143645	142143645	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:142143645G>T	uc003iiq.3	+	c.120G>T	c.(118-120)ATG>ATT	p.M40I	ZNF330_uc011chl.1_Missense_Mutation_p.W4L	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	40						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)													0.333333	19.117257	19.634242	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142143645	142143645	18440	4	G	T	T	T	611	47	ZNF330	2	2
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143181690G>A	uc003iix.3	-	c.643C>T	c.(643-645)CCG>TCG	p.P215S	INPP4B_uc003iiw.3_Missense_Mutation_p.P215S|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.P30S|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.P86S	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.4	25.096826	25.271492	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143181690	143181690	8054	4	G	A	A	A	559	43	INPP4B	2	2
LRBA	987	broad.mit.edu	37	4	151520208	151520208	+	Silent	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151520208A>C	uc010ipj.2	-	c.5997T>G	c.(5995-5997)CCT>CCG	p.P1999P	LRBA_uc003ilt.3_Silent_p.P658P|LRBA_uc003ilu.3_Silent_p.P1999P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1999						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.254237	38.597159	41.831198	15	44	KEEP	---	---	---	---	capture		Silent	SNP	151520208	151520208	9304	4	A	C	C	C	132	11	LRBA	4	4
NPY2R	4887	broad.mit.edu	37	4	156136166	156136166	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156136166G>T	uc003ioq.2	+	c.1075G>T	c.(1075-1077)GCT>TCT	p.A359S	NPY2R_uc003ior.2_Missense_Mutation_p.A359S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	359	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.272727	22.750287	24.294883	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156136166	156136166	11014	4	G	T	T	T	546	42	NPY2R	2	2
RAPGEF2	9693	broad.mit.edu	37	4	160259585	160259585	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:160259585C>T	uc003iqg.3	+	c.1775C>T	c.(1774-1776)TCA>TTA	p.S592L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	592					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)						322				0.22449	24.59679	28.016894	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160259585	160259585	13504	4	C	T	T	T	377	29	RAPGEF2	2	2
ANP32C	23520	broad.mit.edu	37	4	165118606	165118606	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118606G>A	uc011cjk.1	-	c.258C>T	c.(256-258)CTC>CTT	p.L86L	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	86	LRR 3.										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.282353	59.957648	63.579466	24	61	KEEP	---	---	---	---	capture		Silent	SNP	165118606	165118606	715	4	G	A	A	A	574	45	ANP32C	2	2
RGS12	6002	broad.mit.edu	37	4	3424297	3424297	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3424297G>T	uc003ggw.2	+	c.3033G>T	c.(3031-3033)AAG>AAT	p.K1011N	RGS12_uc003ggv.2_Missense_Mutation_p.K1011N|RGS12_uc003ggy.1_Missense_Mutation_p.K409N|RGS12_uc003ggz.2_Missense_Mutation_p.K363N|RGS12_uc010icu.1_Missense_Mutation_p.K210N|RGS12_uc011bvs.1_Missense_Mutation_p.K353N|RGS12_uc003gha.2_Missense_Mutation_p.K353N|RGS12_uc010icv.2_Missense_Mutation_p.K210N|RGS12_uc003ghb.2_Missense_Mutation_p.K210N	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1011	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.571429	60.501398	60.656522	20	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3424297	3424297	13769	4	G	T	T	T	451	35	RGS12	2	2
KLB	152831	broad.mit.edu	37	4	39448475	39448475	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39448475G>A	uc003gua.2	+	c.2129G>A	c.(2128-2130)GGG>GAG	p.G710E	KLB_uc011byj.1_Missense_Mutation_p.G701E	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	710	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1														0.285714	50.925326	53.52033	18	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39448475	39448475	8644	4	G	A	A	A	559	43	KLB	2	2
N4BP2	55728	broad.mit.edu	37	4	40099000	40099000	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40099000C>T	uc003guy.3	+	c.40C>T	c.(40-42)CGG>TGG	p.R14W	N4BP2_uc010ifq.2_5'UTR	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	14						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.305556	28.007435	29.224035	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40099000	40099000	10505	4	C	T	T	T	399	31	N4BP2	1	1
OTOP1	133060	broad.mit.edu	37	4	4199621	4199621	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4199621C>A	uc003ghp.1	-	c.940G>T	c.(940-942)GGC>TGC	p.G314C		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	314	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.423729	69.153376	69.455068	25	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4199621	4199621	11717	4	C	A	A	A	286	22	OTOP1	2	2
LRRC66	339977	broad.mit.edu	37	4	52869406	52869406	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52869406C>T	uc003gzi.2	-	c.649G>A	c.(649-651)GAC>AAC	p.D217N		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	217	LRR 5.					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.484848	48.198115	48.204709	16	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52869406	52869406	9393	4	C	T	T	T	390	30	LRRC66	2	2
PPAT	5471	broad.mit.edu	37	4	57261580	57261580	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57261580C>G	uc003hbr.2	-	c.1492G>C	c.(1492-1494)GAA>CAA	p.E498Q		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	498					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)									0.214286	9.017044	10.072345	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57261580	57261580	12732	4	C	G	G	G	377	29	PPAT	3	3
EPHA5	2044	broad.mit.edu	37	4	66467425	66467425	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66467425A>G	uc011cah.1	-	c.844T>C	c.(844-846)TGG>CGG	p.W282R	EPHA5_uc003hcx.2_Missense_Mutation_p.W213R|EPHA5_uc003hcy.2_Missense_Mutation_p.W282R|EPHA5_uc003hcz.2_Missense_Mutation_p.W282R|EPHA5_uc011cai.1_Missense_Mutation_p.W282R|EPHA5_uc003hda.2_Missense_Mutation_p.W282R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	282	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.4	38.598799	38.859584	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66467425	66467425	5363	4	A	G	G	G	78	6	EPHA5	4	4
UGT2B11	10720	broad.mit.edu	37	4	70070363	70070363	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70070363A>G	uc003heh.2	-	c.1095T>C	c.(1093-1095)CAT>CAC	p.H365H		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	365					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.2	18.306312	21.234589	7	28	KEEP	---	---	---	---	capture		Silent	SNP	70070363	70070363	17515	4	A	G	G	G	154	12	UGT2B11	4	4
TADA2B	93624	broad.mit.edu	37	4	7056721	7056721	+	Silent	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:7056721A>C	uc003gjw.3	+	c.1203A>C	c.(1201-1203)CTA>CTC	p.L401L	TADA2B_uc010idi.2_Silent_p.L326L	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0														0.255814	33.607104	35.93054	11	32	KEEP	---	---	---	---	capture		Silent	SNP	7056721	7056721	16032	4	A	C	C	C	158	13	TADA2B	4	4
ANKRD17	26057	broad.mit.edu	37	4	73962875	73962875	+	Silent	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73962875A>C	uc003hgp.2	-	c.5136T>G	c.(5134-5136)CGT>CGG	p.R1712R	ANKRD17_uc003hgo.2_Silent_p.R1599R|ANKRD17_uc003hgq.2_Silent_p.R1461R|ANKRD17_uc003hgr.2_Silent_p.R1711R	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.429825	174.865266	175.353308	49	65	KEEP	---	---	---	---	capture		Silent	SNP	73962875	73962875	649	4	A	C	C	C	67	6	ANKRD17	4	4
HELQ	113510	broad.mit.edu	37	4	84339310	84339310	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84339310T>C	uc003hom.2	-	c.2999A>G	c.(2998-3000)AAG>AGG	p.K1000R	HELQ_uc010ikb.2_Missense_Mutation_p.K933R|HELQ_uc003hol.3_Non-coding_Transcript|HELQ_uc010ikc.2_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	1000							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.477273	160.14906	160.188449	42	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84339310	84339310	7330	4	T	C	C	C	728	56	HELQ	4	4
DRD5	1816	broad.mit.edu	37	4	9784051	9784051	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9784051T>A	uc003gmb.3	+	c.398T>A	c.(397-399)GTC>GAC	p.V133D		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	133	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.285714	26.535698	27.977818	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9784051	9784051	4944	4	T	A	A	A	754	58	DRD5	3	3
RAP1GDS1	5910	broad.mit.edu	37	4	99273625	99273625	+	Splice_Site_SNP	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:99273625A>T	uc003htw.3	+	c.239_splice	c.e4-2	p.E80_splice	RAP1GDS1_uc003htu.2_Splice_Site_SNP_p.E79_splice|RAP1GDS1_uc003htx.3_Splice_Site_SNP_p.E79_splice|RAP1GDS1_uc003htv.3_Splice_Site_SNP_p.E80_splice|RAP1GDS1_uc003htz.3_Splice_Site_SNP_p.E79_splice|RAP1GDS1_uc003hty.3_Splice_Site_SNP_p.E80_splice|RAP1GDS1_uc003hua.3_Splice_Site_SNP_p.E80_splice	NM_001100426	NP_001093896			RAP1, GTP-GDP dissociation stimulator 1 isoform								binding|GTPase activator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)						187				0.47619	31.446759	31.457217	10	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	99273625	99273625	13499	4	A	T	T	T	91	7	RAP1GDS1	5	3
CMBL	134147	broad.mit.edu	37	5	10288575	10288575	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10288575G>A	uc003jes.2	-	c.282C>T	c.(280-282)TTC>TTT	p.F94F		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase	94						cytosol	hydrolase activity|protein binding				0														0.296296	44.877202	46.882136	16	38	KEEP	---	---	---	---	capture		Silent	SNP	10288575	10288575	3714	5	G	A	A	A	529	41	CMBL	2	2
PJA2	9867	broad.mit.edu	37	5	108714382	108714382	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:108714382T>A	uc003kos.3	-	c.806A>T	c.(805-807)CAA>CTA	p.Q269L		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	269						cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|zinc ion binding			ovary(1)	1		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)										0.226415	29.172742	32.814724	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108714382	108714382	12386	5	T	A	A	A	819	63	PJA2	3	3
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11082809G>T	uc003jfa.1	-	c.2787C>A	c.(2785-2787)ATC>ATA	p.I929I	CTNND2_uc010itt.2_Silent_p.I838I|CTNND2_uc011cmy.1_Silent_p.I592I|CTNND2_uc011cmz.1_Silent_p.I496I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I521I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					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														0.212121	32.313221	37.369777	14	52	KEEP	---	---	---	---	capture		Silent	SNP	11082809	11082809	4179	5	G	T	T	T	473	37	CTNND2	1	1
EPB41L4A	64097	broad.mit.edu	37	5	111519791	111519791	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:111519791C>A	uc003kpv.1	-	c.1544G>T	c.(1543-1545)TGG>TTG	p.W515L	EPB41L4A_uc003kpp.1_Missense_Mutation_p.W142L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	515						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)										0.225	20.753409	23.533187	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111519791	111519791	5348	5	C	A	A	A	273	21	EPB41L4A	2	2
MCC	4163	broad.mit.edu	37	5	112406907	112406907	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112406907T>C	uc003kql.3	-	c.1809A>G	c.(1807-1809)CAA>CAG	p.Q603Q	MCC_uc003kqj.3_Silent_p.Q413Q|MCC_uc003kqk.3_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.Q413Q|MCC_uc010jcd.1_Silent_p.Q375Q	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	413					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)						12				0.216216	70.440861	78.685206	24	87	KEEP	---	---	---	---	capture		Silent	SNP	112406907	112406907	9762	5	T	C	C	C	829	64	MCC	4	4
FEM1C	56929	broad.mit.edu	37	5	114879140	114879140	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114879140C>A	uc003krb.1	-	c.51G>T	c.(49-51)CGG>CGT	p.R17R		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	17	ANK 1.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)										0.206897	26.9688	31.5861	12	46	KEEP	---	---	---	---	capture		Silent	SNP	114879140	114879140	6048	5	C	A	A	A	327	26	FEM1C	2	2
AQPEP	206338	broad.mit.edu	37	5	115298888	115298888	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115298888C>A	uc003kro.2	+	c.574C>A	c.(574-576)CTC>ATC	p.L192I	AQPEP_uc003krp.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	192	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.233333	16.508104	18.462021	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115298888	115298888	845	5	C	A	A	A	364	28	AQPEP	2	2
FBN2	2201	broad.mit.edu	37	5	127728854	127728854	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127728854C>A	uc003kuu.2	-	c.1439G>T	c.(1438-1440)GGA>GTA	p.G480V	FBN2_uc003kuv.2_Missense_Mutation_p.G447V	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	480					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.188889	29.350028	37.492323	17	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127728854	127728854	5939	5	C	A	A	A	390	30	FBN2	2	2
TRPC7	57113	broad.mit.edu	37	5	135651315	135651315	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135651315G>T	uc003lbn.1	-	c.930C>A	c.(928-930)ATC>ATA	p.I310I	TRPC7_uc010jef.1_Silent_p.I302I|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	311	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.222222	13.934536	15.851933	6	21	KEEP	---	---	---	---	capture		Silent	SNP	135651315	135651315	17135	5	G	T	T	T	577	45	TRPC7	2	2
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139909060	139909060	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139909060G>T	uc003lfs.1	+	c.6529G>T	c.(6529-6531)GTG>TTG	p.V2177L	ANKHD1_uc003lfr.2_Missense_Mutation_p.V2177L|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V916L|ANKHD1_uc003lfw.2_Missense_Mutation_p.V815L|ANKHD1_uc010jfl.2_Missense_Mutation_p.V612L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.V314L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2177						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.2	56.626663	66.675234	24	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139909060	139909060	632	5	G	T	T	T	468	36	ANKHD1-EIF4EBP3	2	2
PCDHA4	56144	broad.mit.edu	37	5	140189081	140189081	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140189081T>C	uc003lhi.2	+	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.M770T|PCDHA4_uc011daa.1_Missense_Mutation_p.M770T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	770	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.247312	56.37996	61.784953	23	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140189081	140189081	11946	5	T	C	C	C	663	51	PCDHA4	4	4
PCDHAC1	56135	broad.mit.edu	37	5	140308879	140308879	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140308879G>A	uc003lih.2	+	c.2402G>A	c.(2401-2403)AGG>AAG	p.R801K	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.R801K	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	801	Cytoplasmic (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)											0.21875	36.413568	41.079184	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140308879	140308879	11952	5	G	A	A	A	455	35	PCDHAC1	2	2
PCDHB5	26167	broad.mit.edu	37	5	140515957	140515957	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140515957A>C	uc003liq.2	+	c.941A>C	c.(940-942)TAT>TCT	p.Y314S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	314	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.1875	62.631555	74.329284	24	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140515957	140515957	11965	5	A	C	C	C	208	16	PCDHB5	4	4
PCDHB5	26167	broad.mit.edu	37	5	140516601	140516601	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140516601C>T	uc003liq.2	+	c.1585C>T	c.(1585-1587)CGC>TGC	p.R529C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	529	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.265306	65.919812	70.789271	26	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140516601	140516601	11965	5	C	T	T	T	299	23	PCDHB5	1	1
PCDHB6	56130	broad.mit.edu	37	5	140530479	140530479	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140530479T>A	uc003lir.2	+	c.641T>A	c.(640-642)CTG>CAG	p.L214Q	PCDHB6_uc011dah.1_Missense_Mutation_p.L78Q	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	214	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.30303	54.873845	57.160205	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140530479	140530479	11966	5	T	A	A	A	715	55	PCDHB6	3	3
PCDHB8	56128	broad.mit.edu	37	5	140558439	140558439	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140558439A>G	uc011dai.1	+	c.824A>G	c.(823-825)AAC>AGC	p.N275S	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	275	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.27	86.584312	91.353792	27	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140558439	140558439	11968	5	A	G	G	G	26	2	PCDHB8	4	4
PCDHB8	56128	broad.mit.edu	37	5	140559471	140559471	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559471G>T	uc011dai.1	+	c.1856G>T	c.(1855-1857)TGG>TTG	p.W619L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.173913	29.937257	39.178416	16	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559471	140559471	11968	5	G	T	T	T	611	47	PCDHB8	2	2
PCDHB9	56127	broad.mit.edu	37	5	140567886	140567886	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140567886A>T	uc003liw.1	+	c.994A>T	c.(994-996)ACA>TCA	p.T332S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	332	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.21875	16.236998	18.548571	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140567886	140567886	11969	5	A	T	T	T	182	14	PCDHB9	3	3
PCDHGB6	56100	broad.mit.edu	37	5	140788971	140788971	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140788971A>T	uc003lkj.1	+	c.1202A>T	c.(1201-1203)TAC>TTC	p.Y401F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.Y401F	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	401	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.307692	33.387519	34.672054	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140788971	140788971	11987	5	A	T	T	T	182	14	PCDHGB6	3	3
PCDHGB6	56100	broad.mit.edu	37	5	140789165	140789165	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140789165C>G	uc003lkj.1	+	c.1396C>G	c.(1396-1398)CCG>GCG	p.P466A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.P466A	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	466	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.196078	21.725238	26.113562	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140789165	140789165	11987	5	C	G	G	G	286	22	PCDHGB6	3	3
PCDHGA12	26025	broad.mit.edu	37	5	140811320	140811320	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140811320A>G	uc003lkt.1	+	c.994A>G	c.(994-996)AAA>GAA	p.K332E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.K332E	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	332	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.222222	53.152808	59.540481	20	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140811320	140811320	11973	5	A	G	G	G	65	5	PCDHGA12	4	4
PCDHGC4	56098	broad.mit.edu	37	5	140864842	140864842	+	Silent	SNP	G	T	T	rs77402299		TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140864842G>T	uc003lky.1	+	c.102G>T	c.(100-102)CCG>CCT	p.P34P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.P34P	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	34	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.190476	25.261364	30.907361	12	51	KEEP	---	---	---	---	capture		Silent	SNP	140864842	140864842	11990	5	G	T	T	T	496	39	PCDHGC4	1	1
PCDH1	5097	broad.mit.edu	37	5	141233739	141233739	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141233739G>C	uc003llp.2	-	c.3582C>G	c.(3580-3582)TTC>TTG	p.F1194L		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	Error:Variant_position_missing_in_Q08174_after_alignment					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		Ovarian(132;1609 1739 4190 14731 45037)								0.285714	16.03948	16.906047	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141233739	141233739	11926	5	G	C	C	C	425	33	PCDH1	3	3
LARS	51520	broad.mit.edu	37	5	145537160	145537160	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145537160C>A	uc003lnx.1	-	c.871G>T	c.(871-873)GCT>TCT	p.A291S	LARS_uc011dbq.1_Missense_Mutation_p.A245S|LARS_uc011dbr.1_Missense_Mutation_p.A237S|LARS_uc011dbs.1_Missense_Mutation_p.A264S	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	291	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)									0.222222	13.235918	15.152572	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145537160	145537160	8957	5	C	A	A	A	338	26	LARS	2	2
ARHGEF37	389337	broad.mit.edu	37	5	149001437	149001437	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149001437A>T	uc003lra.1	+	c.1147A>T	c.(1147-1149)AGT>TGT	p.S383C		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	383	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.287671	55.341565	58.295675	21	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149001437	149001437	921	5	A	T	T	T	91	7	ARHGEF37	3	3
CSF1R	1436	broad.mit.edu	37	5	149433914	149433914	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149433914C>A	uc003lrl.2	-	c.2734G>T	c.(2734-2736)GAG>TAG	p.E912*	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Nonsense_Mutation_p.E912*	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	912	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)					592				0.241379	47.728773	53.039736	21	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149433914	149433914	4073	5	C	A	A	A	390	30	CSF1R	5	2
TCOF1	6949	broad.mit.edu	37	5	149749093	149749093	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149749093G>A	uc003lry.2	+	c.567G>A	c.(565-567)GGG>GGA	p.G189G	TCOF1_uc003lrw.2_Silent_p.G189G|TCOF1_uc011dch.1_Silent_p.G189G|TCOF1_uc003lrz.2_Silent_p.G189G|TCOF1_uc003lrx.2_Silent_p.G189G|TCOF1_uc003lsa.2_Silent_p.G189G	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	189					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.275862	40.471944	43.097428	16	42	KEEP	---	---	---	---	capture		Silent	SNP	149749093	149749093	16234	5	G	A	A	A	522	41	TCOF1	2	2
ZNF300	91975	broad.mit.edu	37	5	150276098	150276098	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150276098G>A	uc003lsy.1	-	c.703C>T	c.(703-705)CAC>TAC	p.H235Y	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.216216	17.37751	20.128537	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150276098	150276098	18423	5	G	A	A	A	585	45	ZNF300	2	2
FAT2	2196	broad.mit.edu	37	5	150924904	150924904	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150924904C>A	uc003lue.3	-	c.5784G>T	c.(5782-5784)CTG>CTT	p.L1928L	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1928	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.222222	51.532183	59.20923	24	84	KEEP	---	---	---	---	capture		Silent	SNP	150924904	150924904	5926	5	C	A	A	A	366	29	FAT2	2	2
G3BP1	10146	broad.mit.edu	37	5	151170615	151170615	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151170615G>T	uc003lun.2	+	c.343G>T	c.(343-345)GCT>TCT	p.A115S	G3BP1_uc010jhy.1_Missense_Mutation_p.A115S|G3BP1_uc003lum.2_Missense_Mutation_p.A115S|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	115	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			ovary(1)	1		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)											0.2	17.875295	21.224984	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151170615	151170615	6392	5	G	T	T	T	598	46	G3BP1	2	2
GALNT10	55568	broad.mit.edu	37	5	153796519	153796519	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153796519T>G	uc003lvh.2	+	c.1799T>G	c.(1798-1800)TTC>TGC	p.F600C	GALNT10_uc010jic.2_Non-coding_Transcript|GALNT10_uc010jid.2_Missense_Mutation_p.F441C|GALNT10_uc003lvj.2_Missense_Mutation_p.F271C	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	600	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)											0.253333	58.793292	62.932622	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153796519	153796519	6472	5	T	G	G	G	806	62	GALNT10	4	4
THG1L	54974	broad.mit.edu	37	5	157158442	157158442	+	De_novo_Start_OutOfFrame	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157158442G>A	uc003lxd.2	+	c.-6G>A	c.(-8--4)GCGTG>GCATG		THG1L_uc011ddu.1_De_novo_Start_OutOfFrame	NM_017872	NP_060342			interphase cytoplasmic foci protein 45						protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.275	27.411991	29.233201	11	29	KEEP	---	---	---	---	capture		De_novo_Start_OutOfFrame	SNP	157158442	157158442	16389	5	G	A	A	A	508	40	THG1L	5	1
FBXL7	23194	broad.mit.edu	37	5	15928326	15928326	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928326G>T	uc003jfn.1	+	c.455G>T	c.(454-456)CGG>CTG	p.R152L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	152	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.294118	13.768867	14.413409	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928326	15928326	5961	5	G	T	T	T	507	39	FBXL7	1	1
NKX2-5	1482	broad.mit.edu	37	5	172659655	172659655	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:172659655C>A	uc003mcm.1	-	c.892G>T	c.(892-894)GGG>TGG	p.G298W		NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	298					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of myotube differentiation|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|septum secundum development|spleen development|thyroid gland development|tongue development|vasculogenesis|ventricular septum morphogenesis	transcription factor complex	chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription activator activity|transcription factor binding|transcription repressor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			Esophageal Squamous(72;810 1219 2387 13420 44943)								0.2	20.148985	23.916104	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172659655	172659655	10855	5	C	A	A	A	299	23	NKX2-5	1	1
GPRIN1	114787	broad.mit.edu	37	5	176025235	176025235	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176025235T>A	uc003meo.1	-	c.1601A>T	c.(1600-1602)AAG>ATG	p.K534M		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	534						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.317647	70.991496	73.506147	27	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176025235	176025235	7005	5	T	A	A	A	728	56	GPRIN1	3	3
CLK4	57396	broad.mit.edu	37	5	178040602	178040602	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178040602C>G	uc003mjf.1	-	c.698G>C	c.(697-699)GGT>GCT	p.G233A	CLK4_uc003mjg.1_Missense_Mutation_p.G197A|CLK4_uc010jku.1_Missense_Mutation_p.G53A|CLK4_uc003mjh.1_Missense_Mutation_p.G53A|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Missense_Mutation_p.G233A|CLK4_uc011dgh.1_Missense_Mutation_p.G53A	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	233	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)						146				0.214286	27.451532	30.617137	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178040602	178040602	3677	5	C	G	G	G	234	18	CLK4	3	3
ZNF354C	30832	broad.mit.edu	37	5	178506897	178506897	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178506897G>C	uc003mju.2	+	c.1464G>C	c.(1462-1464)AGG>AGC	p.R488S		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	488	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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)	all cancers(165;0.247)										0.264706	28.459135	30.160627	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178506897	178506897	18458	5	G	C	C	C	529	41	ZNF354C	3	3
OR2Y1	134083	broad.mit.edu	37	5	180166157	180166157	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180166157C>A	uc003mmf.1	-	c.902G>T	c.(901-903)TGG>TTG	p.W301L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.17	33.227597	43.51954	17	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180166157	180166157	11441	5	C	A	A	A	273	21	OR2Y1	2	2
OR2V2	285659	broad.mit.edu	37	5	180581966	180581966	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180581966C>A	uc011dhj.1	+	c.24C>A	c.(22-24)TCC>TCA	p.S8S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.271605	56.210946	60.023043	22	59	KEEP	---	---	---	---	capture		Silent	SNP	180581966	180581966	11437	5	C	A	A	A	301	24	OR2V2	2	2
OR2V2	285659	broad.mit.edu	37	5	180582444	180582444	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582444C>T	uc011dhj.1	+	c.502C>T	c.(502-504)CCC>TCC	p.P168S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.163636	55.716331	73.452231	27	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180582444	180582444	11437	5	C	T	T	T	286	22	OR2V2	2	2
OR2V2	285659	broad.mit.edu	37	5	180582654	180582654	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180582654G>T	uc011dhj.1	+	c.712G>T	c.(712-714)GCC>TCC	p.A238S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.197368	33.181889	39.664262	15	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180582654	180582654	11437	5	G	T	T	T	546	42	OR2V2	2	2
CDH12	1010	broad.mit.edu	37	5	21760782	21760782	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21760782T>C	uc010iuc.2	-	c.1518A>G	c.(1516-1518)ATA>ATG	p.I506M	CDH12_uc011cno.1_Missense_Mutation_p.I466M|CDH12_uc003jgk.2_Missense_Mutation_p.I506M	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	506	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.304348	46.035002	47.604663	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21760782	21760782	3227	5	T	C	C	C	784	61	CDH12	4	4
CDH10	1008	broad.mit.edu	37	5	24593464	24593464	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24593464C>A	uc003jgr.1	-	c.136G>T	c.(136-138)GGC>TGC	p.G46C	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.214286	13.232978	15.345142	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24593464	24593464	3225	5	C	A	A	A	273	21	CDH10	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33527444	33527444	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33527444G>A	uc003jia.1	-	c.4634C>T	c.(4633-4635)TCA>TTA	p.S1545L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1460L	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1545	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.215686	24.694872	28.501107	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33527444	33527444	258	5	G	A	A	A	585	45	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33588901	33588901	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33588901C>A	uc003jia.1	-	c.2668G>T	c.(2668-2670)GAG>TAG	p.E890*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.E805*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	890	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7												OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.196078	17.81106	22.21549	10	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33588901	33588901	258	5	C	A	A	A	390	30	ADAMTS12	5	2
SLC45A2	51151	broad.mit.edu	37	5	33947350	33947350	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33947350C>T	uc003jid.2	-	c.1286G>A	c.(1285-1287)AGC>AAC	p.S429N	SLC45A2_uc003jie.2_Missense_Mutation_p.S429N	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	429	Helical; Name=10; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.193548	52.231239	63.097323	24	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33947350	33947350	15138	5	C	T	T	T	364	28	SLC45A2	2	2
SPEF2	79925	broad.mit.edu	37	5	35776497	35776497	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35776497G>T	uc003jjo.2	+	c.4217G>T	c.(4216-4218)AGT>ATT	p.S1406I	SPEF2_uc003jjp.1_Missense_Mutation_p.S892I|SPEF2_uc003jjr.2_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1406					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.210526	18.086966	21.026934	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35776497	35776497	15547	5	G	T	T	T	455	35	SPEF2	2	2
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41199909C>A	uc003jmk.2	-	c.406G>T	c.(406-408)GAA>TAA	p.E136*	C6_uc003jml.1_Nonsense_Mutation_p.E136*	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	136					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)												0.244444	26.900643	29.579749	11	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41199909	41199909	2416	5	C	A	A	A	377	29	C6	5	2
ADAMTS16	170690	broad.mit.edu	37	5	5303476	5303476	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5303476C>T	uc003jdl.2	+	c.2885C>T	c.(2884-2886)TCG>TTG	p.S962L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S962L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	962	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.444444	9.789542	9.8149	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5303476	5303476	262	5	C	T	T	T	403	31	ADAMTS16	1	1
GPX8	493869	broad.mit.edu	37	5	54456044	54456044	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54456044G>A	uc003jpq.2	+	c.24G>A	c.(22-24)CCG>CCA	p.P8P	CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Silent_p.P8P|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Silent_p.P8P	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8	8					oxidation-reduction process|response to oxidative stress	integral to membrane	glutathione peroxidase activity				0					Glutathione(DB00143)									0.25	19.68554	21.502988	8	24	KEEP	---	---	---	---	capture		Silent	SNP	54456044	54456044	7022	5	G	A	A	A	483	38	GPX8	1	1
ANKRD55	79722	broad.mit.edu	37	5	55407437	55407437	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:55407437C>A	uc003jqu.2	-	c.1138G>T	c.(1138-1140)GAC>TAC	p.D380Y	ANKRD55_uc003jqt.2_Missense_Mutation_p.D92Y	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	379											0		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)												0.165179	65.705365	89.579407	37	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55407437	55407437	689	5	C	A	A	A	377	29	ANKRD55	2	2
BDP1	55814	broad.mit.edu	37	5	70806253	70806253	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70806253G>A	uc003kbp.1	+	c.3334G>A	c.(3334-3336)GGT>AGT	p.G1112S	BDP1_uc003kbn.1_Missense_Mutation_p.G1112S|BDP1_uc003kbo.2_Missense_Mutation_p.G1112S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1112	6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.222222	20.67972	23.235633	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70806253	70806253	1417	5	G	A	A	A	455	35	BDP1	2	2
DMGDH	29958	broad.mit.edu	37	5	78340326	78340326	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78340326G>A	uc003kfs.2	-	c.795C>T	c.(793-795)CTC>CTT	p.L265L	DMGDH_uc011cte.1_Silent_p.L115L|DMGDH_uc011ctf.1_Silent_p.L64L|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	265					choline metabolic process|glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)	3		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)										0.27907	30.379065	32.268383	12	31	KEEP	---	---	---	---	capture		Silent	SNP	78340326	78340326	4761	5	G	A	A	A	574	45	DMGDH	2	2
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78422045C>A	uc003kfu.3	+	c.802C>A	c.(802-804)CCA>ACA	p.P268T	BHMT_uc011cti.1_Missense_Mutation_p.P115T	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)									0.21875	15.405844	17.739881	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78422045	78422045	1450	5	C	A	A	A	286	22	BHMT	2	2
SPZ1	84654	broad.mit.edu	37	5	79616095	79616095	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79616095C>G	uc003kgn.2	+	c.61C>G	c.(61-63)CCT>GCT	p.P21A		NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)										0.193333	76.688273	89.853114	29	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79616095	79616095	15641	5	C	G	G	G	390	30	SPZ1	3	3
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94030836C>A	uc003kkr.3	+	c.2996C>A	c.(2995-2997)ACC>AAC	p.T999N	ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)										0.357143	7.723635	7.994598	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94030836	94030836	666	5	C	A	A	A	234	18	ANKRD32	2	2
NR2E1	7101	broad.mit.edu	37	6	108502082	108502082	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108502082G>T	uc003psg.2	+	c.811G>T	c.(811-813)GTG>TTG	p.V271L		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	271	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)										0.445946	98.458902	98.648171	33	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108502082	108502082	11030	6	G	T	T	T	572	44	NR2E1	2	2
FIG4	9896	broad.mit.edu	37	6	110098260	110098260	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110098260G>A	uc003ptt.2	+	c.1886G>A	c.(1885-1887)AGA>AAA	p.R629K	FIG4_uc011eau.1_Missense_Mutation_p.R352K	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	629					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)										0.315789	17.142611	17.716366	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110098260	110098260	6126	6	G	A	A	A	429	33	FIG4	2	2
NEDD9	4739	broad.mit.edu	37	6	11185641	11185641	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:11185641T>A	uc003mzv.2	-	c.2259A>T	c.(2257-2259)GCA>GCT	p.A753A	NEDD9_uc010joz.2_Silent_p.A753A|NEDD9_uc003mzw.3_Silent_p.A607A	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	753	Divergent helix-loop-helix motif.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)							152				0.504425	186.878241	186.880212	57	56	KEEP	---	---	---	---	capture		Silent	SNP	11185641	11185641	10712	6	T	A	A	A	756	59	NEDD9	3	3
RSPH4A	345895	broad.mit.edu	37	6	116949479	116949479	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116949479C>T	uc003pxe.2	+	c.1609C>T	c.(1609-1611)CTA>TTA	p.L537L	RSPH4A_uc010kee.2_Silent_p.L537L	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	537	Glu-rich.				cilium axoneme assembly|cilium movement	cilium axoneme|cytoplasm|cytoskeleton|motile cilium|radial spoke					0														0.209677	29.500385	34.389802	13	49	KEEP	---	---	---	---	capture		Silent	SNP	116949479	116949479	14186	6	C	T	T	T	415	32	RSPH4A	2	2
NKAIN2	154215	broad.mit.edu	37	6	124676442	124676442	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:124676442G>T	uc003pzo.2	+	c.222G>T	c.(220-222)ACG>ACT	p.T74T	NKAIN2_uc003pzn.1_Silent_p.T74T|NKAIN2_uc003pzp.2_Silent_p.T73T|NKAIN2_uc010keq.2_Silent_p.T74T|NKAIN2_uc010ker.2_5'UTR	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	74	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)										0.4375	93.094031	93.31143	28	36	KEEP	---	---	---	---	capture		Silent	SNP	124676442	124676442	10837	6	G	T	T	T	509	40	NKAIN2	1	1
C6orf174	387104	broad.mit.edu	37	6	127796797	127796797	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127796797G>A	uc003qbd.2	-	c.2374C>T	c.(2374-2376)CTC>TTC	p.L792F	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	792						integral to membrane				breast(3)|ovary(2)	5				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)										0.56	138.158219	138.393565	42	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127796797	127796797	2450	6	G	A	A	A	455	35	C6orf174	2	2
LAMA2	3908	broad.mit.edu	37	6	129649547	129649547	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129649547C>T	uc003qbn.2	+	c.4301C>T	c.(4300-4302)TCG>TTG	p.S1434L	LAMA2_uc003qbo.2_Missense_Mutation_p.S1434L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1434	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.466667	127.806181	127.885675	42	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129649547	129649547	8929	6	C	T	T	T	403	31	LAMA2	1	1
TMEM200A	114801	broad.mit.edu	37	6	130762655	130762655	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762655T>C	uc003qca.2	+	c.1088T>C	c.(1087-1089)ATG>ACG	p.M363T	TMEM200A_uc010kfh.2_Missense_Mutation_p.M363T|TMEM200A_uc010kfi.2_Missense_Mutation_p.M363T|TMEM200A_uc003qcb.2_Missense_Mutation_p.M363T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	363	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.195122	18.479209	22.03052	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130762655	130762655	16658	6	T	C	C	C	663	51	TMEM200A	4	4
PDE7B	27115	broad.mit.edu	37	6	136512860	136512860	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136512860A>T	uc003qgr.2	+	c.1391A>T	c.(1390-1392)CAG>CTG	p.Q464L	PDE7B_uc003qgp.2_Missense_Mutation_p.Q412L	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	412					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(1)	1	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)									0.333333	16.042203	16.485913	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136512860	136512860	12073	6	A	T	T	T	91	7	PDE7B	3	3
CD83	9308	broad.mit.edu	37	6	14131775	14131775	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:14131775A>T	uc003nbi.2	+	c.178A>T	c.(178-180)ATG>TTG	p.M60L	CD83_uc003nbh.2_Missense_Mutation_p.M60L	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	60	Extracellular (Potential).|Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)												0.512195	62.273174	62.278462	21	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14131775	14131775	3169	6	A	T	T	T	156	12	CD83	3	3
SHPRH	257218	broad.mit.edu	37	6	146256096	146256096	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146256096C>A	uc003qld.2	-	c.2937G>T	c.(2935-2937)CAG>CAT	p.Q979H	SHPRH_uc003qle.2_Missense_Mutation_p.Q979H|SHPRH_uc003qlf.2_Missense_Mutation_p.Q979H|SHPRH_uc003qlg.1_Missense_Mutation_p.Q535H|SHPRH_uc003qlj.1_Missense_Mutation_p.Q868H|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	979					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.485714	49.67067	49.676989	17	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146256096	146256096	14786	6	C	A	A	A	311	24	SHPRH	2	2
SASH1	23328	broad.mit.edu	37	6	148846478	148846478	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:148846478G>T	uc003qme.1	+	c.1261G>T	c.(1261-1263)GGC>TGC	p.G421C	SASH1_uc011eeb.1_Missense_Mutation_p.G182C|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	421							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)										0.4375	125.833847	126.161216	42	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148846478	148846478	14329	6	G	T	T	T	611	47	SASH1	2	2
C6orf211	79624	broad.mit.edu	37	6	151789697	151789697	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151789697G>T	uc003qok.1	+	c.778G>T	c.(778-780)GTT>TTT	p.V260F	C6orf211_uc011ees.1_Missense_Mutation_p.V141F	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	260							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)										0.527473	158.404363	158.464017	48	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151789697	151789697	2459	6	G	T	T	T	624	48	C6orf211	2	2
TIAM2	26230	broad.mit.edu	37	6	155500537	155500537	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155500537C>A	uc003qqb.2	+	c.2654C>A	c.(2653-2655)CCA>CAA	p.P885Q	TIAM2_uc003qqe.2_Missense_Mutation_p.P885Q|TIAM2_uc010kjj.2_Missense_Mutation_p.P418Q|TIAM2_uc003qqf.2_Missense_Mutation_p.P261Q|TIAM2_uc011efl.1_Missense_Mutation_p.P221Q|TIAM2_uc003qqg.2_Missense_Mutation_p.P197Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	885					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)										0.418182	67.612432	67.934534	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155500537	155500537	16419	6	C	A	A	A	273	21	TIAM2	2	2
SNX9	51429	broad.mit.edu	37	6	158342655	158342655	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158342655G>T	uc003qqv.1	+	c.1042G>T	c.(1042-1044)GAA>TAA	p.E348*		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	348	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)										0.315789	14.841205	15.41579	6	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158342655	158342655	15409	6	G	T	T	T	585	45	SNX9	5	2
IGF2R	3482	broad.mit.edu	37	6	160510217	160510217	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160510217G>T	uc003qta.2	+	c.6399G>T	c.(6397-6399)CAG>CAT	p.Q2133H		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2133	14.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.422222	53.714479	53.952672	19	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160510217	160510217	7877	6	G	T	T	T	425	33	IGF2R	2	2
THBS2	7058	broad.mit.edu	37	6	169632775	169632775	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169632775G>T	uc003qwt.2	-	c.1916C>A	c.(1915-1917)GCC>GAC	p.A639D		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	639	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.427083	122.456745	122.902398	41	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169632775	169632775	16382	6	G	T	T	T	546	42	THBS2	2	2
GMDS	2762	broad.mit.edu	37	6	1930451	1930451	+	Silent	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:1930451A>T	uc003mtq.2	-	c.657T>A	c.(655-657)GTT>GTA	p.V219V		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	219					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion	cytoplasm	coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)										0.632653	92.318586	93.072941	31	18	KEEP	---	---	---	---	capture		Silent	SNP	1930451	1930451	6755	6	A	T	T	T	158	13	GMDS	3	3
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26273408G>A	uc003nhk.2	+	c.205G>A	c.(205-207)GAC>AAC	p.D69N	HIST1H3G_uc003nhi.2_5'Flank	NM_003525	NP_003516	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0														0.186528	71.084821	88.856843	36	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26273408	26273408	7433	6	G	A	A	A	481	37	HIST1H2BI	1	1
HMGN4	10473	broad.mit.edu	37	6	26545530	26545530	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26545530A>G	uc003nig.2	+	c.96A>G	c.(94-96)CCA>CCG	p.P32P		NM_006353	NP_006344	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain	32						chromatin|nucleus	DNA binding				0														0.466667	63.576335	63.619064	21	24	KEEP	---	---	---	---	capture		Silent	SNP	26545530	26545530	7528	6	A	G	G	G	80	7	HMGN4	4	4
ZNF184	7738	broad.mit.edu	37	6	27420806	27420806	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27420806G>A	uc003njj.2	-	c.532C>T	c.(532-534)CCT>TCT	p.P178S	ZNF184_uc010jqv.2_Missense_Mutation_p.P178S|ZNF184_uc003nji.2_Missense_Mutation_p.P178S	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.462185	178.514127	178.662392	55	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27420806	27420806	18342	6	G	A	A	A	559	43	ZNF184	2	2
ZNF311	282890	broad.mit.edu	37	6	28963357	28963357	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28963357C>T	uc003nlu.2	-	c.1422G>A	c.(1420-1422)GAG>GAA	p.E474E	ZNF311_uc011dlk.1_Silent_p.E382E|ZNF311_uc003nlv.2_Silent_p.E382E	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	474	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0														0.431373	71.643033	71.852404	22	29	KEEP	---	---	---	---	capture		Silent	SNP	28963357	28963357	18426	6	C	T	T	T	311	24	ZNF311	2	2
C2	717	broad.mit.edu	37	6	31901508	31901508	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31901508G>A	uc003nyf.2	+	c.564G>A	c.(562-564)GAG>GAA	p.E188E	C2_uc003nyc.2_Missense_Mutation_p.S20N|C2_uc011doo.1_Missense_Mutation_p.S20N|C2_uc011dop.1_Silent_p.E65E|C2_uc003nye.3_Silent_p.E188E|C2_uc010jtk.2_Silent_p.E56E|C2_uc011doq.1_Silent_p.E159E|C2_uc003nyg.2_Silent_p.E56E|CFB_uc011dor.1_Silent_p.E126E	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	188	Sushi 3.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)	1		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)										0.506173	126.673439	126.6761	41	40	KEEP	---	---	---	---	capture		Silent	SNP	31901508	31901508	2150	6	G	A	A	A	438	34	C2	2	2
TNXB	7148	broad.mit.edu	37	6	32017941	32017941	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32017941C>A	uc003nzl.2	-	c.9267G>T	c.(9265-9267)CTG>CTT	p.L3089L		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	3136	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.37234	96.79454	98.142539	35	59	KEEP	---	---	---	---	capture		Silent	SNP	32017941	32017941	16887	6	C	A	A	A	262	21	TNXB	2	2
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32037579C>T	uc003nzl.2	-	c.5338G>A	c.(5338-5340)GAG>AAG	p.E1780K		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1862	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.310345	24.76351	25.693107	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32037579	32037579	16887	6	C	T	T	T	390	30	TNXB	2	2
TAP2	6891	broad.mit.edu	37	6	32805830	32805830	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32805830A>C	uc011dqf.1	-	c.181T>G	c.(181-183)TTT>GTT	p.F61V	TAP2_uc003ocb.1_Missense_Mutation_p.F61V|TAP2_uc003occ.2_Missense_Mutation_p.F61V|TAP2_uc003ocd.2_Missense_Mutation_p.F61V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	61	Helical; Name=2; (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.166667	37.114115	47.864653	17	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32805830	32805830	16072	6	A	C	C	C	52	4	TAP2	4	4
NUDT3	11165	broad.mit.edu	37	6	34263448	34263448	+	Silent	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34263448C>G	uc003ojl.2	-	c.225G>C	c.(223-225)GGG>GGC	p.G75G		NM_006703	NP_006694	O95989	NUDT3_HUMAN	nudix-type motif 3	75	Nudix hydrolase.			G->A: Loss of function.	cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding				0						GBM(96;1206 1939 18658 39482)								0.228571	23.781013	26.146334	8	27	KEEP	---	---	---	---	capture		Silent	SNP	34263448	34263448	11145	6	C	G	G	G	379	30	NUDT3	3	3
SLC26A8	116369	broad.mit.edu	37	6	35927260	35927260	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35927260C>T	uc003olm.2	-	c.1840G>A	c.(1840-1842)GAT>AAT	p.D614N	SLC26A8_uc010jwa.2_Non-coding_Transcript|SLC26A8_uc003olk.2_Missense_Mutation_p.D196N|SLC26A8_uc003oln.2_Missense_Mutation_p.D614N|SLC26A8_uc003oll.2_Missense_Mutation_p.D509N	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	614	STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2														0.169014	21.951054	29.319429	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35927260	35927260	15020	6	C	T	T	T	377	29	SLC26A8	2	2
GLO1	2739	broad.mit.edu	37	6	38670747	38670747	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38670747C>A	uc003ooc.2	-	c.84G>T	c.(82-84)AAG>AAT	p.K28N		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	28					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)									0.482759	41.248705	41.256163	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38670747	38670747	6717	6	C	A	A	A	311	24	GLO1	2	2
TSPO2	222642	broad.mit.edu	37	6	41010795	41010795	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41010795G>A	uc003opj.2	+	c.71G>A	c.(70-72)CGT>CAT	p.R24H	UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Missense_Mutation_p.V34M|TSPO2_uc011dub.1_Missense_Mutation_p.R24H	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN	benzodiazapine receptor (peripheral)-like 1	24					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity				0														0.461538	176.398234	176.563811	60	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41010795	41010795	17207	6	G	A	A	A	520	40	TSPO2	1	1
CAPN11	11131	broad.mit.edu	37	6	44144038	44144038	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44144038T>A	uc003owt.1	+	c.964T>A	c.(964-966)TGG>AGG	p.W322R	CAPN11_uc011dvn.1_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	322	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.5	88.896635	88.896635	28	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44144038	44144038	2741	6	T	A	A	A	715	55	CAPN11	3	3
GPR115	221393	broad.mit.edu	37	6	47684541	47684541	+	Splice_Site_SNP	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47684541G>T	uc003oyz.1	+	c.2104_splice	c.e8-1	p.G702_splice	GPR115_uc003oza.1_Splice_Site_SNP_p.G645_splice|GPR115_uc003ozb.1_Splice_Site_SNP_p.G643_splice	NM_153838	NP_722580			G-protein coupled receptor 115 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|breast(1)	4						GBM(22;431 510 9010 26644 32828)								0.475	58.020899	58.042776	19	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47684541	47684541	6906	6	G	T	T	T	455	35	GPR115	5	2
CDYL	9425	broad.mit.edu	37	6	4892412	4892412	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4892412G>T	uc003mwi.2	+	c.652G>T	c.(652-654)GAG>TAG	p.E218*	CDYL_uc003mwj.2_Nonsense_Mutation_p.E164*|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Nonsense_Mutation_p.E32*|CDYL_uc011dhy.1_Nonsense_Mutation_p.E32*	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	218					chromatin assembly or disassembly|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	chromatin|nucleus	chromatin binding|histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)										0.394737	42.230212	42.59409	15	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4892412	4892412	3318	6	G	T	T	T	585	45	CDYL	5	2
PGK2	5232	broad.mit.edu	37	6	49754596	49754596	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754596G>C	uc003ozu.2	-	c.305C>G	c.(304-306)GCA>GGA	p.A102G		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	102					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.526316	149.80559	149.851337	40	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49754596	49754596	12214	6	G	C	C	C	598	46	PGK2	3	3
HUS1B	135458	broad.mit.edu	37	6	656540	656540	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:656540C>A	uc003mtg.2	-	c.405G>T	c.(403-405)CGG>CGT	p.R135R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	135											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)										0.6375	153.820824	155.145599	51	29	KEEP	---	---	---	---	capture		Silent	SNP	656540	656540	7760	6	C	A	A	A	275	22	HUS1B	2	2
BAI3	577	broad.mit.edu	37	6	69640530	69640530	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69640530A>G	uc003pev.3	+	c.837A>G	c.(835-837)CAA>CAG	p.Q279Q	BAI3_uc010kak.2_Silent_p.Q279Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	279	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.272727	9.420231	9.932234	3	8	KEEP	---	---	---	---	capture		Silent	SNP	69640530	69640530	1321	6	A	G	G	G	37	3	BAI3	4	4
BAI3	577	broad.mit.edu	37	6	69758130	69758130	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69758130C>G	uc003pev.3	+	c.2161C>G	c.(2161-2163)CCA>GCA	p.P721A	BAI3_uc010kak.2_Missense_Mutation_p.P721A	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	721	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.714286	56.733892	57.599001	15	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69758130	69758130	1321	6	C	G	G	G	390	30	BAI3	3	3
COL9A1	1297	broad.mit.edu	37	6	71004033	71004033	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71004033G>A	uc003pfg.3	-	c.533C>T	c.(532-534)TCC>TTC	p.S178F		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	178	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.232558	48.553135	54.187419	20	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71004033	71004033	3845	6	G	A	A	A	533	41	COL9A1	2	2
RNGTT	8732	broad.mit.edu	37	6	89638909	89638909	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89638909G>C	uc003pmr.2	-	c.252C>G	c.(250-252)ATC>ATG	p.I84M	RNGTT_uc003pms.2_Missense_Mutation_p.I84M|RNGTT_uc011dzu.1_Missense_Mutation_p.I24M|RNGTT_uc003pmt.2_Missense_Mutation_p.I84M	NM_003800	NP_003791	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	84	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)										0.235294	11.890994	12.980463	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89638909	89638909	13982	6	G	C	C	C	577	45	RNGTT	3	3
GABRR1	2569	broad.mit.edu	37	6	89890150	89890150	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89890150G>C	uc003pna.2	-	c.1007C>G	c.(1006-1008)CCG>CGG	p.P336R	GABRR1_uc011dzv.1_Missense_Mutation_p.P313R	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	336					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)									0.40625	80.614144	81.111348	26	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89890150	89890150	6427	6	G	C	C	C	507	39	GABRR1	3	3
UBE2J1	51465	broad.mit.edu	37	6	90039433	90039433	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90039433G>A	uc010kcb.2	-	c.922C>T	c.(922-924)CTG>TTG	p.L308L	UBE2J1_uc003pnc.2_Silent_p.L308L	NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	308	Lumenal (Potential).				post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)										0.514286	57.348	57.354112	18	17	KEEP	---	---	---	---	capture		Silent	SNP	90039433	90039433	17417	6	G	A	A	A	425	33	UBE2J1	2	2
BACH2	60468	broad.mit.edu	37	6	90642323	90642323	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90642323G>T	uc011eab.1	-	c.2330C>A	c.(2329-2331)CCC>CAC	p.P777H	BACH2_uc003pnw.2_Missense_Mutation_p.P777H	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	777					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.540816	160.786919	160.930321	53	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90642323	90642323	1305	6	G	T	T	T	559	43	BACH2	2	2
KIAA0776	23376	broad.mit.edu	37	6	96997630	96997631	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96997630_96997631GG>TT	uc003por.2	+	c.1773_1774GG>TT	c.(1771-1776)TCGGAT>TCTTAT	p.D592Y	KIAA0776_uc010kck.2_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	592					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)										0.37037	31.443557	31.842051	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	96997630	96997631	8500	6	GG	TT	TT	TT	496	39	KIAA0776	1	1
CCNC	892	broad.mit.edu	37	6	99997442	99997442	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:99997442C>T	uc003pqe.2	-	c.540G>A	c.(538-540)GTG>GTA	p.V180V	CCNC_uc003pqd.2_Silent_p.V95V|CCNC_uc010kcr.2_Non-coding_Transcript|CCNC_uc010kcs.2_Silent_p.V179V|CCNC_uc011eah.1_Silent_p.V95V	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	protein binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GBM(57;273 1020 40094 44454 49348)								0.363636	11.198302	11.377701	4	7	KEEP	---	---	---	---	capture		Silent	SNP	99997442	99997442	3042	6	C	T	T	T	366	29	CCNC	2	2
CUX1	1523	broad.mit.edu	37	7	101671405	101671405	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101671405C>T	uc003uys.3	+	c.202C>T	c.(202-204)CTG>TTG	p.L68L	CUX1_uc003uyt.2_Silent_p.L68L|CUX1_uc011kkn.1_Silent_p.L31L|CUX1_uc003uyw.2_Silent_p.L68L|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Silent_p.L68L|CUX1_uc003uyx.3_Silent_p.L57L	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	57	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.25	23.65622	25.702395	9	27	KEEP	---	---	---	---	capture		Silent	SNP	101671405	101671405	4224	7	C	T	T	T	363	28	CUX1	2	2
NRCAM	4897	broad.mit.edu	37	7	107816974	107816974	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107816974A>T	uc003vfb.2	-	c.3052T>A	c.(3052-3054)TTA>ATA	p.L1018I	NRCAM_uc003vfc.2_Missense_Mutation_p.L1002I|NRCAM_uc011kmk.1_Missense_Mutation_p.L1013I|NRCAM_uc003vfd.2_Missense_Mutation_p.L994I|NRCAM_uc003vfe.2_Missense_Mutation_p.L994I|NRCAM_uc011kmj.1_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1018	Fibronectin type-III 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5														0.560976	68.826712	68.959152	23	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107816974	107816974	11049	7	A	T	T	T	11	1	NRCAM	3	3
DOCK4	9732	broad.mit.edu	37	7	111379521	111379521	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111379521T>A	uc003vfy.2	-	c.5161A>T	c.(5161-5163)ACC>TCC	p.T1721S	DOCK4_uc011kml.1_Missense_Mutation_p.T557S|DOCK4_uc011kmm.1_Missense_Mutation_p.T583S|DOCK4_uc003vfw.2_Missense_Mutation_p.T1126S|DOCK4_uc003vfx.2_Missense_Mutation_p.T1676S|DOCK4_uc003vfv.2_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1676	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												1	7.977086	7.753887	2	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111379521	111379521	4873	7	T	A	A	A	741	57	DOCK4	3	3
THSD7A	221981	broad.mit.edu	37	7	11485703	11485703	+	Nonsense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11485703T>A	uc003ssf.3	-	c.3049A>T	c.(3049-3051)AGA>TGA	p.R1017*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1017	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.284211	70.109922	74.067046	27	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11485703	11485703	16407	7	T	A	A	A	687	53	THSD7A	5	3
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121638051G>T	uc003vjy.2	+	c.1231G>T	c.(1231-1233)GAT>TAT	p.D411Y	PTPRZ1_uc003vjz.2_Missense_Mutation_p.D411Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	411	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.357143	14.070342	14.322332	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121638051	121638051	13272	7	G	T	T	T	585	45	PTPRZ1	2	2
NRF1	4899	broad.mit.edu	37	7	129357178	129357178	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129357178G>T	uc003vpa.2	+	c.1185G>T	c.(1183-1185)GAG>GAT	p.E395D	NRF1_uc003voz.2_Missense_Mutation_p.E395D|NRF1_uc011kpa.1_Missense_Mutation_p.E234D|NRF1_uc003vpb.2_Missense_Mutation_p.E395D	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	395	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1														0.410256	43.79025	44.065201	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129357178	129357178	11051	7	G	T	T	T	425	33	NRF1	2	2
PRSS1	5644	broad.mit.edu	37	7	142460350	142460350	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142460350T>C	uc003wak.2	+	c.523T>C	c.(523-525)TAC>CAC	p.Y175H	TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.Y115H	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	175	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.309524	206.025679	212.797994	65	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142460350	142460350	13064	7	T	C	C	C	689	53	PRSS1	4	4
EZH2	2146	broad.mit.edu	37	7	148513776	148513776	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148513776C>T	uc003wfb.1	-	c.1505G>A	c.(1504-1506)CGG>CAG	p.R502Q	EZH2_uc011kug.1_Missense_Mutation_p.R488Q|EZH2_uc003wfc.1_Missense_Mutation_p.R458Q|EZH2_uc003wfd.1_Missense_Mutation_p.R497Q|EZH2_uc011kuh.1_Missense_Mutation_p.R488Q|EZH2_uc011kui.1_3'UTR	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	497					negative regulation of retinoic acid receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding|transcription repressor activity			haematopoietic_and_lymphoid_tissue(169)|skin(2)|large_intestine(1)	172	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)											0.487179	61.921195	61.926848	19	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148513776	148513776	5528	7	C	T	T	T	299	23	EZH2	1	1
ZNF425	155054	broad.mit.edu	37	7	148802277	148802277	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148802277C>T	uc003wfj.2	-	c.686G>A	c.(685-687)GGG>GAG	p.G229E		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)											0.559322	107.775563	107.9555	33	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148802277	148802277	18492	7	C	T	T	T	286	22	ZNF425	2	2
ABCB8	11194	broad.mit.edu	37	7	150739143	150739143	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150739143G>T	uc003wil.3	+	c.1764G>T	c.(1762-1764)GCG>GCT	p.A588A	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.A571A|ABCB8_uc011kvd.1_Silent_p.A483A|ABCB8_uc003wim.3_Silent_p.A366A|ABCB8_uc003wik.3_Silent_p.A571A	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	588	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.227848	41.313472	46.679942	18	61	KEEP	---	---	---	---	capture		Silent	SNP	150739143	150739143	48	7	G	T	T	T	470	37	ABCB8	1	1
FASTK	10922	broad.mit.edu	37	7	150774063	150774063	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150774063C>T	uc003wix.1	-	c.1479G>A	c.(1477-1479)GTG>GTA	p.V493V	FASTK_uc003wiw.1_Silent_p.V254V|FASTK_uc003wiy.1_Silent_p.V352V|FASTK_uc003wiz.1_Silent_p.V466V|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase isoform 1	493	RAP.				apoptosis|induction of apoptosis by extracellular signals|protein phosphorylation|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(2)|stomach(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)						113				0.27451	33.229729	35.564746	14	37	KEEP	---	---	---	---	capture		Silent	SNP	150774063	150774063	5920	7	C	T	T	T	314	25	FASTK	2	2
INTS1	26173	broad.mit.edu	37	7	1519959	1519959	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:1519959G>A	uc003skn.2	-	c.4068C>T	c.(4066-4068)TTC>TTT	p.F1356F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1356					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)										0.238095	12.063374	13.379998	5	16	KEEP	---	---	---	---	capture		Silent	SNP	1519959	1519959	8076	7	G	A	A	A	529	41	INTS1	2	2
INTS1	26173	broad.mit.edu	37	7	1523686	1523686	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:1523686C>G	uc003skn.2	-	c.3382G>C	c.(3382-3384)GTG>CTG	p.V1128L	INTS1_uc003skp.1_Missense_Mutation_p.V475L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1128					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)										0.327869	66.483569	68.083996	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1523686	1523686	8076	7	C	G	G	G	247	19	INTS1	3	3
CDCA7L	55536	broad.mit.edu	37	7	21947917	21947917	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21947917C>T	uc010kuk.2	-	c.512G>A	c.(511-513)CGC>CAC	p.R171H	CDCA7L_uc003sve.3_Missense_Mutation_p.R137H|CDCA7L_uc010kul.2_Missense_Mutation_p.R125H|CDCA7L_uc003svf.3_Missense_Mutation_p.R170H|CDCA7L_uc011jyk.1_Missense_Mutation_p.R171H	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	171					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0														0.36	48.734058	49.597664	18	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21947917	21947917	3220	7	C	T	T	T	351	27	CDCA7L	1	1
OSBPL3	26031	broad.mit.edu	37	7	24911677	24911677	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:24911677T>A	uc003sxf.2	-	c.108A>T	c.(106-108)GAA>GAT	p.E36D	OSBPL3_uc003sxd.2_Non-coding_Transcript|OSBPL3_uc003sxe.2_Non-coding_Transcript|OSBPL3_uc003sxg.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxh.2_Missense_Mutation_p.E36D|OSBPL3_uc003sxi.2_Missense_Mutation_p.E36D	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	36					lipid transport		lipid binding|protein binding			skin(1)	1														0.395833	55.11696	55.571987	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24911677	24911677	11690	7	T	A	A	A	725	56	OSBPL3	3	3
TTYH3	80727	broad.mit.edu	37	7	2686509	2686509	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2686509C>T	uc003smp.2	+	c.146C>T	c.(145-147)GCC>GTC	p.A49V	TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	49	Helical; Name=1; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)										0.25	12.165661	13.30179	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2686509	2686509	17296	7	C	T	T	T	338	26	TTYH3	2	2
HOXA1	3198	broad.mit.edu	37	7	27135155	27135155	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27135155C>A	uc003sye.2	-	c.377G>T	c.(376-378)TGC>TTC	p.C126F	HOXA1_uc003syd.2_Intron	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	126						nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3														0.19	36.128729	45.176073	19	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27135155	27135155	7580	7	C	A	A	A	325	25	HOXA1	2	2
HOXA4	3201	broad.mit.edu	37	7	27169157	27169157	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27169157C>A	uc003sym.3	-	c.650G>T	c.(649-651)CGC>CTC	p.R217L	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	217	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1														0.205882	33.818313	39.267559	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27169157	27169157	7586	7	C	A	A	A	351	27	HOXA4	1	1
GARS	2617	broad.mit.edu	37	7	30649288	30649288	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30649288C>A	uc003tbm.2	+	c.823C>A	c.(823-825)CCA>ACA	p.P275T		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	275					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)									0.333333	34.260401	35.220625	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30649288	30649288	6506	7	C	A	A	A	390	30	GARS	2	2
INMT	11185	broad.mit.edu	37	7	30793439	30793439	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30793439C>G	uc003tbs.1	+	c.247C>G	c.(247-249)CTC>GTC	p.L83V	FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.L82V	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	83						cytoplasm	amine N-methyltransferase activity				0														0.27476	256.870631	271.137076	86	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30793439	30793439	8046	7	C	G	G	G	416	32	INMT	3	3
GHRHR	2692	broad.mit.edu	37	7	31011704	31011704	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31011704C>T	uc003tbx.2	+	c.591C>T	c.(589-591)TTC>TTT	p.F197F	GHRHR_uc003tbw.1_Silent_p.F197F|GHRHR_uc003tby.2_Silent_p.F133F|GHRHR_uc003tbz.2_Missense_Mutation_p.S15F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	197	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.25641	27.330871	29.429529	10	29	KEEP	---	---	---	---	capture		Silent	SNP	31011704	31011704	6641	7	C	T	T	T	415	32	GHRHR	2	2
NEUROD6	63974	broad.mit.edu	37	7	31378209	31378209	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31378209A>G	uc003tch.2	-	c.674T>C	c.(673-675)CTT>CCT	p.L225P		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	225					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(2)	2														0.357798	135.697398	137.637616	39	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31378209	31378209	10751	7	A	G	G	G	39	3	NEUROD6	4	4
PDE1C	5137	broad.mit.edu	37	7	31793152	31793152	+	Nonsense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31793152A>T	uc003tco.1	-	c.2156T>A	c.(2155-2157)TTG>TAG	p.L719*	PDE1C_uc003tcm.1_Nonsense_Mutation_p.L659*|PDE1C_uc003tcn.1_Nonsense_Mutation_p.L659*	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	659					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.266667	38.472153	41.423774	16	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31793152	31793152	12056	7	A	T	T	T	53	5	PDE1C	5	3
PDE1C	5137	broad.mit.edu	37	7	31877577	31877577	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31877577C>T	uc003tco.1	-	c.1169G>A	c.(1168-1170)CGA>CAA	p.R390Q	PDE1C_uc003tcm.1_Missense_Mutation_p.R330Q|PDE1C_uc003tcn.1_Missense_Mutation_p.R330Q|PDE1C_uc003tcr.2_Missense_Mutation_p.R330Q|PDE1C_uc003tcs.2_Missense_Mutation_p.R330Q	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	330	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.252427	64.514229	70.238784	26	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31877577	31877577	12056	7	C	T	T	T	403	31	PDE1C	1	1
NPSR1	387129	broad.mit.edu	37	7	34889224	34889224	+	Nonstop_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34889224A>T	uc003teh.1	+	c.1173A>T	c.(1171-1173)TGA>TGT	p.*391C	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.E358V|NPSR1_uc010kwt.1_Missense_Mutation_p.E205V|NPSR1_uc010kwu.1_Missense_Mutation_p.E148V|NPSR1_uc010kwv.1_Missense_Mutation_p.E292V|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	391						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.2875	60.190326	63.431398	23	57	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	34889224	34889224	11005	7	A	T	T	T	143	11	NPSR1	5	3
EEPD1	80820	broad.mit.edu	37	7	36194191	36194191	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36194191A>G	uc003tfa.2	+	c.258A>G	c.(256-258)GTA>GTG	p.V86V		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	86					DNA repair|protein secretion	integral to membrane	DNA binding				0														0.234568	50.683596	55.904787	19	62	KEEP	---	---	---	---	capture		Silent	SNP	36194191	36194191	5119	7	A	G	G	G	184	15	EEPD1	4	4
CDK13	8621	broad.mit.edu	37	7	40134118	40134118	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:40134118G>C	uc003thh.3	+	c.4078G>C	c.(4078-4080)GCT>CCT	p.A1360P	CDK13_uc003thi.3_Missense_Mutation_p.A1300P|CDK13_uc003thj.2_Missense_Mutation_p.A411P|CDK13_uc003thk.2_Missense_Mutation_p.A293P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1360					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|ovary(1)|skin(1)	4										238				0.280374	93.047672	97.661472	30	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40134118	40134118	3258	7	G	C	C	C	598	46	CDK13	3	3
SDK1	221935	broad.mit.edu	37	7	4116637	4116637	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4116637G>C	uc003smx.2	+	c.3018G>C	c.(3016-3018)CAG>CAC	p.Q1006H	SDK1_uc010kso.2_Missense_Mutation_p.Q282H	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1006	Fibronectin type-III 4.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.230769	24.653137	27.244814	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4116637	4116637	14454	7	G	C	C	C	425	33	SDK1	3	3
AEBP1	165	broad.mit.edu	37	7	44149840	44149840	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44149840C>A	uc003tkb.2	+	c.1295C>A	c.(1294-1296)GCG>GAG	p.A432E	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	432	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|regulation of transcription, DNA-dependent|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.245283	34.071204	37.187901	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44149840	44149840	350	7	C	A	A	A	351	27	AEBP1	1	1
GCK	2645	broad.mit.edu	37	7	44184835	44184835	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44184835C>T	uc003tkk.1	-	c.1301G>A	c.(1300-1302)AGC>AAC	p.S434N	GCK_uc003tkh.1_Missense_Mutation_p.S106N|GCK_uc003tki.1_Missense_Mutation_p.S111N|GCK_uc003tkj.1_Missense_Mutation_p.S432N|GCK_uc003tkl.2_Missense_Mutation_p.S433N	NM_033507	NP_277042	P35557	HXK4_HUMAN	glucokinase isoform 2	433					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			lung(1)|skin(1)	2										356				0.307692	21.085122	21.945433	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44184835	44184835	6559	7	C	T	T	T	364	28	GCK	2	2
PKD1L1	168507	broad.mit.edu	37	7	47882629	47882629	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47882629C>A	uc003tny.1	-	c.5376G>T	c.(5374-5376)CTG>CTT	p.L1792L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1792	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.285714	57.212975	60.389293	22	55	KEEP	---	---	---	---	capture		Silent	SNP	47882629	47882629	12388	7	C	A	A	A	314	25	PKD1L1	2	2
VWC2	375567	broad.mit.edu	37	7	49842403	49842403	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:49842403G>T	uc003tot.1	+	c.793G>T	c.(793-795)GAG>TAG	p.E265*		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	265	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0														0.296296	42.385329	44.385705	16	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49842403	49842403	17814	7	G	T	T	T	481	37	VWC2	5	1
COBL	23242	broad.mit.edu	37	7	51261234	51261234	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51261234G>T	uc003tps.2	-	c.298C>A	c.(298-300)CCA>ACA	p.P100T	COBL_uc003tpr.3_Missense_Mutation_p.P100T|COBL_uc011kcl.1_Missense_Mutation_p.P100T|COBL_uc010kzc.2_Missense_Mutation_p.P100T|COBL_uc003tpt.2_Missense_Mutation_p.P100T|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.P16T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	100										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.36	22.962882	23.396301	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51261234	51261234	3791	7	G	T	T	T	533	41	COBL	2	2
POM121L12	285877	broad.mit.edu	37	7	53103547	53103547	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103547C>T	uc003tpz.2	+	c.183C>T	c.(181-183)AGC>AGT	p.S61S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	61											0														0.325	70.817903	72.994325	26	54	KEEP	---	---	---	---	capture		Silent	SNP	53103547	53103547	12669	7	C	T	T	T	337	26	POM121L12	2	2
POM121L12	285877	broad.mit.edu	37	7	53103731	53103731	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103731G>T	uc003tpz.2	+	c.367G>T	c.(367-369)GGG>TGG	p.G123W		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	123											0														0.222222	27.268781	31.103901	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53103731	53103731	12669	7	G	T	T	T	559	43	POM121L12	2	2
ZNF713	349075	broad.mit.edu	37	7	55990964	55990965	+	Missense_Mutation	DNP	GG	CC	CC			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55990964_55990965GG>CC	uc003tra.1	+	c.197_198GG>CC	c.(196-198)AGG>ACC	p.R66T	MRPS17_uc003trb.2_Missense_Mutation_p.R53T|ZNF713_uc003trc.1_Missense_Mutation_p.R53T	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.305556	69.722271	72.150555	22	50	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	55990964	55990965	18713	7	GG	CC	CC	CC	455	35	ZNF713	3	3
POM121	9883	broad.mit.edu	37	7	72409924	72409924	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72409924G>A	uc003twk.2	+	c.1417G>A	c.(1417-1419)GAC>AAC	p.D473N	POM121_uc003twj.2_Missense_Mutation_p.D208N|POM121_uc010lam.1_Missense_Mutation_p.D208N	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	473	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)												0.352941	18.744844	19.069098	6	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72409924	72409924	12667	7	G	A	A	A	429	33	POM121	2	2
TRIM50	135892	broad.mit.edu	37	7	72734212	72734212	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72734212C>T	uc010lbd.1	-	c.429G>A	c.(427-429)CTG>CTA	p.L143L	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.L143L|TRIM50_uc003txz.1_Silent_p.L143L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	143	Potential.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding				0														0.194245	54.536049	66.667156	27	112	KEEP	---	---	---	---	capture		Silent	SNP	72734212	72734212	17072	7	C	T	T	T	366	29	TRIM50	2	2
DTX2	113878	broad.mit.edu	37	7	76111922	76111922	+	Silent	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76111922T>C	uc011kgk.1	+	c.93T>C	c.(91-93)ACT>ACC	p.T31T	DTX2_uc003uff.3_Silent_p.T122T|DTX2_uc003ufg.3_Silent_p.T122T|DTX2_uc003ufh.3_Silent_p.T122T|DTX2_uc003ufj.3_Silent_p.T122T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	122	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)	1														0.4375	102.810066	103.082746	35	45	KEEP	---	---	---	---	capture		Silent	SNP	76111922	76111922	4979	7	T	C	C	C	704	55	DTX2	4	4
SEMA3C	10512	broad.mit.edu	37	7	80546044	80546044	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80546044A>G	uc011kgw.1	-	c.108T>C	c.(106-108)TGT>TGC	p.C36C	SEMA3C_uc003uhj.2_Silent_p.C18C|SEMA3C_uc011kgx.1_5'UTR	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	18					immune response|response to drug	membrane	receptor activity			ovary(1)	1														0.35	42.140915	42.933586	14	26	KEEP	---	---	---	---	capture		Silent	SNP	80546044	80546044	14512	7	A	G	G	G	76	6	SEMA3C	4	4
TRRAP	8295	broad.mit.edu	37	7	98509822	98509822	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98509822G>A	uc003upp.2	+	c.2185G>A	c.(2185-2187)GAA>AAA	p.E729K	TRRAP_uc011kis.1_Missense_Mutation_p.E729K|TRRAP_uc003upr.2_Missense_Mutation_p.E421K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	729					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				0.368421	60.157975	61.02627	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98509822	98509822	17152	7	G	A	A	A	585	45	TRRAP	2	2
CYP3A7	1551	broad.mit.edu	37	7	99308411	99308411	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99308411G>T	uc003uru.2	-	c.970C>A	c.(970-972)CAC>AAC	p.H324N	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	324					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)													0.533333	46.798071	46.826767	16	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99308411	99308411	4346	7	G	T	T	T	585	45	CYP3A7	2	2
ZSCAN21	7589	broad.mit.edu	37	7	99662084	99662084	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99662084G>A	uc003uso.2	+	c.1266G>A	c.(1264-1266)GGG>GGA	p.G422G	ZSCAN21_uc003usn.1_Missense_Mutation_p.G387E|ZNF3_uc003usp.2_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	422	C2H2-type 6.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)											0.447368	51.089622	51.177685	17	21	KEEP	---	---	---	---	capture		Silent	SNP	99662084	99662084	18837	7	G	A	A	A	522	41	ZSCAN21	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110457536	110457536	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457536G>A	uc003yne.2	+	c.5438G>A	c.(5437-5439)AGT>AAT	p.S1813N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1813	Extracellular (Potential).|IPT/TIG 10.				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)											0.282609	33.151904	35.107313	13	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110457536	110457536	12397	8	G	A	A	A	468	36	PKHD1L1	2	2
KCNV1	27012	broad.mit.edu	37	8	110986364	110986364	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110986364G>T	uc003ynr.3	-	c.254C>A	c.(253-255)CCC>CAC	p.P85H	KCNV1_uc010mcw.2_Missense_Mutation_p.P85H	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	85	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)											0.304348	17.71943	18.503304	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110986364	110986364	8399	8	G	T	T	T	559	43	KCNV1	2	2
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113323366G>C	uc003ynu.2	-	c.7726C>G	c.(7726-7728)CCT>GCT	p.P2576A	CSMD3_uc003yns.2_Missense_Mutation_p.P1778A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2536A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2472A|CSMD3_uc003ynw.1_Missense_Mutation_p.P287A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2576	Extracellular (Potential).|Sushi 14.					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)			0.27907	35.080744	36.969	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113323366	113323366	4087	8	G	C	C	C	572	44	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113697836G>C	uc003ynu.2	-	c.2281C>G	c.(2281-2283)CTT>GTT	p.L761V	CSMD3_uc003yns.2_Missense_Mutation_p.L33V|CSMD3_uc003ynt.2_Missense_Mutation_p.L721V|CSMD3_uc011lhx.1_Missense_Mutation_p.L657V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	761	Extracellular (Potential).|CUB 4.					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)			0.333333	33.540488	34.278263	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697836	113697836	4087	8	G	C	C	C	429	33	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	114185958	114185958	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:114185958G>A	uc003ynu.2	-	c.702C>T	c.(700-702)ATC>ATT	p.I234I	CSMD3_uc003ynt.2_Silent_p.I194I|CSMD3_uc011lhx.1_Silent_p.I234I|CSMD3_uc010mcx.1_Silent_p.I234I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	234	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.339286	56.60675	57.88607	19	37	KEEP	---	---	---	---	capture		Silent	SNP	114185958	114185958	4087	8	G	A	A	A	421	33	CSMD3	2	2
TRPS1	7227	broad.mit.edu	37	8	116426548	116426548	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116426548C>A	uc003yny.2	-	c.3588G>T	c.(3586-3588)GAG>GAT	p.E1196D	TRPS1_uc011lhy.1_Missense_Mutation_p.E1187D|TRPS1_uc010mcy.2_Missense_Mutation_p.E1183D|TRPS1_uc003ynz.2_Missense_Mutation_p.E1183D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1183	Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.208333	21.121398	24.904961	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116426548	116426548	17144	8	C	A	A	A	415	32	TRPS1	2	2
TRPS1	7227	broad.mit.edu	37	8	116599299	116599299	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116599299C>A	uc003yny.2	-	c.2629G>T	c.(2629-2631)GGG>TGG	p.G877W	TRPS1_uc011lhy.1_Missense_Mutation_p.G868W|TRPS1_uc010mcy.2_Missense_Mutation_p.G864W|TRPS1_uc003ynz.2_Missense_Mutation_p.G864W	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	864					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.229885	45.552347	51.374103	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116599299	116599299	17144	8	C	A	A	A	273	21	TRPS1	2	2
COL14A1	7373	broad.mit.edu	37	8	121295936	121295936	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121295936C>G	uc003yox.2	+	c.3886C>G	c.(3886-3888)CCT>GCT	p.P1296A	COL14A1_uc003yoz.2_Missense_Mutation_p.P261A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1296	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.175	34.790561	42.777028	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121295936	121295936	3809	8	C	G	G	G	390	30	COL14A1	3	3
WDR67	93594	broad.mit.edu	37	8	124113096	124113096	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124113096A>C	uc003ypp.1	+	c.881A>C	c.(880-882)CAG>CCG	p.Q294P	WDR67_uc011lig.1_Missense_Mutation_p.Q294P|WDR67_uc011lih.1_Missense_Mutation_p.Q184P|WDR67_uc003ypq.1_Non-coding_Transcript|WDR67_uc003yps.1_Missense_Mutation_p.Q7P|WDR67_uc003ypo.1_Missense_Mutation_p.Q294P|WDR67_uc003ypr.2_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	294						intracellular	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)											0.242424	20.083127	22.07985	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124113096	124113096	17891	8	A	C	C	C	91	7	WDR67	4	4
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131812783C>T	uc003ytd.3	-	c.2949G>A	c.(2947-2949)GTG>GTA	p.V983V	ADCY8_uc010mds.2_Silent_p.V852V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	983	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.161616	25.930652	36.721872	16	83	KEEP	---	---	---	---	capture		Silent	SNP	131812783	131812783	301	8	C	T	T	T	366	29	ADCY8	2	2
DENND3	22898	broad.mit.edu	37	8	142190928	142190928	+	Silent	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142190928G>T	uc003yvy.2	+	c.2679G>T	c.(2677-2679)GCG>GCT	p.A893A	DENND3_uc010mep.2_Silent_p.A854A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	893										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)											0.263889	48.290819	51.921109	19	53	KEEP	---	---	---	---	capture		Silent	SNP	142190928	142190928	4611	8	G	T	T	T	496	39	DENND3	1	1
BAI1	575	broad.mit.edu	37	8	143623974	143623974	+	Missense_Mutation	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143623974A>G	uc003ywm.2	+	c.4379A>G	c.(4378-4380)GAG>GGG	p.E1460G		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1460	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.4	6.849147	6.892843	2	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143623974	143623974	1319	8	A	G	G	G	143	11	BAI1	4	4
GML	2765	broad.mit.edu	37	8	143928027	143928027	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143928027C>T	uc003yxg.2	+	c.398C>T	c.(397-399)CCA>CTA	p.P133L		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	133	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.245614	33.818975	37.18028	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143928027	143928027	6761	8	C	T	T	T	273	21	GML	2	2
CYP11B1	1584	broad.mit.edu	37	8	143955876	143955876	+	Silent	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143955876T>A	uc010mey.2	-	c.1638A>T	c.(1636-1638)ACA>ACT	p.T546T	CYP11B1_uc010mex.2_Silent_p.T174T|CYP11B1_uc003yxh.2_Silent_p.T125T|CYP11B1_uc003yxi.2_Silent_p.T475T|CYP11B1_uc003yxj.2_Silent_p.T409T	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	475					aldosterone biosynthetic process|cortisol biosynthetic process|glucose homeostasis|immune response|oxidation-reduction process|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									0.290698	73.045783	76.417703	25	61	KEEP	---	---	---	---	capture		Silent	SNP	143955876	143955876	4310	8	T	A	A	A	756	59	CYP11B1	3	3
CYP11B2	1585	broad.mit.edu	37	8	143995833	143995833	+	Silent	SNP	A	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143995833A>G	uc003yxk.1	-	c.801T>C	c.(799-801)GGT>GGC	p.G267G		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	267					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.241379	19.714423	21.480991	7	22	KEEP	---	---	---	---	capture		Silent	SNP	143995833	143995833	4311	8	A	G	G	G	67	6	CYP11B2	4	4
C8orf31	286122	broad.mit.edu	37	8	144124453	144124453	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144124453C>A	uc003yxp.1	+	c.35C>A	c.(34-36)TCA>TAA	p.S12*	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Intron	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	12										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.253012	50.73066	55.331325	21	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	144124453	144124453	2530	8	C	A	A	A	377	29	C8orf31	5	2
OPLAH	26873	broad.mit.edu	37	8	145108219	145108219	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145108219C>G	uc003zar.3	-	c.2764G>C	c.(2764-2766)GAC>CAC	p.D922H	OPLAH_uc003zas.1_Missense_Mutation_p.G196A	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	922							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)									0.265306	36.354448	38.792444	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145108219	145108219	11282	8	C	G	G	G	390	30	OPLAH	3	3
TUSC3	7991	broad.mit.edu	37	8	15517098	15517098	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:15517098G>C	uc003wwt.2	+	c.509G>C	c.(508-510)AGA>ACA	p.R170T	TUSC3_uc003wwr.2_Missense_Mutation_p.R170T|TUSC3_uc003wws.2_Missense_Mutation_p.R170T|TUSC3_uc003wwu.2_Missense_Mutation_p.R170T|TUSC3_uc003wwv.2_Missense_Mutation_p.R170T|TUSC3_uc003www.2_Missense_Mutation_p.R170T|TUSC3_uc003wwx.2_Non-coding_Transcript|TUSC3_uc003wwy.2_Missense_Mutation_p.R170T	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	170					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)										0.25	14.964978	16.101324	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15517098	15517098	17334	8	G	C	C	C	429	33	TUSC3	3	3
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24359024G>T	uc003xeb.2	+	c.2143G>T	c.(2143-2145)GGA>TGA	p.G715*	ADAM7_uc003xec.2_Nonsense_Mutation_p.G487*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	715	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			kidney(1)	1		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)										0.36	24.364229	24.797168	9	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24359024	24359024	252	8	G	T	T	T	455	35	ADAM7	5	2
TEX15	56154	broad.mit.edu	37	8	30704584	30704584	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30704584C>T	uc003xil.2	-	c.1950G>A	c.(1948-1950)ACG>ACA	p.T650T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	650										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.333333	26.665553	27.329993	9	18	KEEP	---	---	---	---	capture		Silent	SNP	30704584	30704584	16306	8	C	T	T	T	288	23	TEX15	1	1
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35541202C>A	uc003xjr.1	+	c.708C>A	c.(706-708)ATC>ATA	p.I236I	UNC5D_uc003xjs.1_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	236	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.45	27.87288	27.916386	9	11	KEEP	---	---	---	---	capture		Silent	SNP	35541202	35541202	17553	8	C	A	A	A	395	31	UNC5D	1	1
KCNU1	157855	broad.mit.edu	37	8	36675196	36675196	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36675196G>T	uc010lvw.2	+	c.1024G>T	c.(1024-1026)GTG>TTG	p.V342L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	342	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.44186	60.12657	60.251762	19	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36675196	36675196	8398	8	G	T	T	T	624	48	KCNU1	2	2
ADRB3	155	broad.mit.edu	37	8	37821747	37821747	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37821747C>T	uc003xkr.1	-	c.1216G>A	c.(1216-1218)GGA>AGA	p.G406R		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	406	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity				0	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)									0.238095	12.867395	14.181115	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37821747	37821747	343	8	C	T	T	T	286	22	ADRB3	2	2
MYST3	7994	broad.mit.edu	37	8	41834584	41834584	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41834584C>T	uc010lxb.2	-	c.1305G>A	c.(1303-1305)GAG>GAA	p.E435E	MYST3_uc010lxc.2_Silent_p.E435E|MYST3_uc003xon.3_Silent_p.E435E|MYST3_uc010lxd.2_Silent_p.E435E	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	435	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)						p.E435E(GP2D-Tumor)	476				0.38	53.906419	54.540228	19	31	KEEP	---	---	---	---	capture		Silent	SNP	41834584	41834584	10499	8	C	T	T	T	363	28	MYST3	2	2
IKBKB	3551	broad.mit.edu	37	8	42176906	42176906	+	Nonsense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42176906G>T	uc003xow.1	+	c.1483G>T	c.(1483-1485)GAG>TAG	p.E495*	IKBKB_uc010lxh.1_Nonsense_Mutation_p.E390*|IKBKB_uc011lco.1_Non-coding_Transcript|IKBKB_uc010lxj.1_Nonsense_Mutation_p.E272*|IKBKB_uc003xox.1_Nonsense_Mutation_p.E216*|IKBKB_uc011lcp.1_Non-coding_Transcript|IKBKB_uc011lcq.1_Nonsense_Mutation_p.E493*|IKBKB_uc010lxi.1_Non-coding_Transcript|IKBKB_uc011lcr.1_Nonsense_Mutation_p.E436*	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	495					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity|transcription activator activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)					402		OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.396825	68.95664	69.544989	25	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42176906	42176906	7912	8	G	T	T	T	533	41	IKBKB	5	2
SNTG1	54212	broad.mit.edu	37	8	51363276	51363276	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51363276G>T	uc010lxy.1	+	c.350G>T	c.(349-351)AGA>ATA	p.R117I	SNTG1_uc003xqs.1_Missense_Mutation_p.R117I|SNTG1_uc010lxz.1_Missense_Mutation_p.R117I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	117	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.333333	10.195038	10.490727	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51363276	51363276	15374	8	G	T	T	T	429	33	SNTG1	2	2
SDR16C5	195814	broad.mit.edu	37	8	57218183	57218183	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57218183A>C	uc010lyk.1	-	c.809T>G	c.(808-810)TTG>TGG	p.L270W	SDR16C5_uc003xsy.1_Missense_Mutation_p.L270W|SDR16C5_uc010lyl.1_Missense_Mutation_p.L226W	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	270	Helical; (Potential).				detection of light stimulus involved in visual perception|keratinocyte proliferation|oxidation-reduction process|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)	2														0.384615	34.645067	34.948167	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57218183	57218183	14457	8	A	C	C	C	65	5	SDR16C5	4	4
EYA1	2138	broad.mit.edu	37	8	72123457	72123457	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72123457C>A	uc003xys.3	-	c.1632G>T	c.(1630-1632)AGG>AGT	p.R544S	EYA1_uc003xyr.3_Missense_Mutation_p.R509S|EYA1_uc003xyt.3_Missense_Mutation_p.R511S|EYA1_uc010lzf.2_Missense_Mutation_p.R471S|EYA1_uc003xyu.2_Missense_Mutation_p.R544S|EYA1_uc011lfe.1_Missense_Mutation_p.R538S|EYA1_uc003xyv.2_Missense_Mutation_p.R422S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	544					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)											0.367347	51.734606	52.493674	18	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72123457	72123457	5522	8	C	A	A	A	233	18	EYA1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77617456	77617456	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617456G>T	uc003yav.2	+	c.1133G>T	c.(1132-1134)GGC>GTC	p.G378V	ZFHX4_uc003yat.1_Missense_Mutation_p.G378V|ZFHX4_uc003yau.1_Missense_Mutation_p.G378V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G378V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	378					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.215686	25.395836	29.201125	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77617456	77617456	18223	8	G	T	T	T	546	42	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77620118	77620118	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77620118C>A	uc003yav.2	+	c.2850C>A	c.(2848-2850)CAC>CAA	p.H950Q	ZFHX4_uc003yat.1_Missense_Mutation_p.H950Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H976Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H950Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	950					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.350877	60.382294	61.500767	20	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77620118	77620118	18223	8	C	A	A	A	220	17	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77768223	77768223	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77768223C>T	uc003yav.2	+	c.8931C>T	c.(8929-8931)ATC>ATT	p.I2977I	ZFHX4_uc003yau.1_Silent_p.I3022I|ZFHX4_uc003yaw.1_Silent_p.I2977I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2977	C2H2-type 18.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.323529	28.409806	29.351635	11	23	KEEP	---	---	---	---	capture		Silent	SNP	77768223	77768223	18223	8	C	T	T	T	369	29	ZFHX4	2	2
MMP16	4325	broad.mit.edu	37	8	89131063	89131063	+	Missense_Mutation	SNP	T	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89131063T>A	uc003yeb.3	-	c.737A>T	c.(736-738)CAT>CTT	p.H246L	MMP16_uc003yec.2_Missense_Mutation_p.H246L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	246	Extracellular (Potential).	Zinc; catalytic (By similarity).			collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.347826	24.993846	25.463599	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89131063	89131063	10045	8	T	A	A	A	663	51	MMP16	3	3
ZNF189	7743	broad.mit.edu	37	9	104171922	104171922	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104171922G>T	uc004bbh.1	+	c.1872G>T	c.(1870-1872)TGG>TGT	p.W624C	ZNF189_uc004bbg.1_Missense_Mutation_p.W582C|ZNF189_uc004bbi.1_Missense_Mutation_p.W610C|ZNF189_uc011lvk.1_Missense_Mutation_p.W609C	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)												0.233333	15.508431	17.46234	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104171922	104171922	18345	9	G	T	T	T	533	41	ZNF189	2	2
GRIN3A	116443	broad.mit.edu	37	9	104335781	104335781	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104335781G>A	uc004bbp.1	-	c.3023C>T	c.(3022-3024)CCC>CTC	p.P1008L	GRIN3A_uc004bbo.1_Missense_Mutation_p.P83L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1008	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.25	41.900853	45.306075	15	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104335781	104335781	7062	9	G	A	A	A	559	43	GRIN3A	2	2
DMRT2	10655	broad.mit.edu	37	9	1056458	1056458	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:1056458C>A	uc003zha.2	+	c.871C>A	c.(871-873)CCA>ACA	p.P291T	DMRT2_uc003zgx.3_Missense_Mutation_p.P58T|DMRT2_uc010mgz.2_Missense_Mutation_p.P58T|DMRT2_uc003zgy.3_Missense_Mutation_p.P135T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P291T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	291					male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)										0.224138	28.148167	32.20321	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1056458	1056458	4766	9	C	A	A	A	286	22	DMRT2	2	2
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107298654C>A	uc004bcb.1	-	c.441G>T	c.(439-441)ATG>ATT	p.M147I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C,	147	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1						GBM(86;1248 1274 14222 15028 46219)								0.376623	83.652782	84.682792	29	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107298654	107298654	11341	9	C	A	A	A	377	29	OR13C3	2	2
DFNB31	25861	broad.mit.edu	37	9	117228579	117228579	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117228579G>A	uc004biz.3	-	c.931C>T	c.(931-933)CCA>TCA	p.P311S	DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.P311S	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	311	PDZ 2.				inner ear receptor stereocilium organization|response to stimulus|retina homeostasis|sensory perception of sound|visual perception	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.404762	104.936022	105.601305	34	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117228579	117228579	4634	9	G	A	A	A	559	43	DFNB31	2	2
OR1N2	138882	broad.mit.edu	37	9	125315507	125315507	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125315507G>C	uc011lyx.1	+	c.59G>C	c.(58-60)AGA>ACA	p.R20T		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.196429	28.891949	33.700673	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125315507	125315507	11376	9	G	C	C	C	429	33	OR1N2	3	3
OR1L4	254973	broad.mit.edu	37	9	125486593	125486593	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125486593G>A	uc004bmu.1	+	c.325G>A	c.(325-327)GGG>AGG	p.G109R		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.438202	116.208617	116.505559	39	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125486593	125486593	11371	9	G	A	A	A	611	47	OR1L4	2	2
GOLGA1	2800	broad.mit.edu	37	9	127651448	127651448	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127651448C>A	uc004bpc.2	-	c.1735G>T	c.(1735-1737)GAA>TAA	p.E579*	GOLGA1_uc010mws.2_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	579	Potential.					Golgi cisterna membrane				ovary(1)	1														0.45614	72.433876	72.530295	26	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	127651448	127651448	6820	9	C	A	A	A	403	31	GOLGA1	5	1
COL5A1	1289	broad.mit.edu	37	9	137688241	137688241	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137688241C>T	uc004cfe.2	+	c.2821C>T	c.(2821-2823)CCA>TCA	p.P941S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	941	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.395062	96.381581	97.162713	32	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137688241	137688241	3834	9	C	T	T	T	286	22	COL5A1	2	2
ARRDC1	92714	broad.mit.edu	37	9	140508500	140508500	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140508500C>G	uc004cns.2	+	c.452C>G	c.(451-453)TCT>TGT	p.S151C	ARRDC1_uc004cnt.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnu.2_Non-coding_Transcript|ARRDC1_uc004cnv.2_Missense_Mutation_p.S131C|ARRDC1_uc004cnw.2_Missense_Mutation_p.S26C|ARRDC1_uc004cnp.1_Missense_Mutation_p.S151C|ARRDC1_uc004cnq.1_Missense_Mutation_p.S133C|ARRDC1_uc011mfb.1_Missense_Mutation_p.S26C|ARRDC1_uc004cnx.1_Missense_Mutation_p.S26C|ARRDC1_uc004cny.2_Non-coding_Transcript	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	151											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)										0.235294	67.458229	73.987616	24	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140508500	140508500	1000	9	C	G	G	G	416	32	ARRDC1	3	3
FAM154A	158297	broad.mit.edu	37	9	18941665	18941665	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18941665C>T	uc003zni.1	-	c.391G>A	c.(391-393)GAC>AAC	p.D131N	FAM154A_uc010mip.1_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	131										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)										0.377358	58.78696	59.486601	20	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18941665	18941665	5661	9	C	T	T	T	403	31	FAM154A	1	1
SLC24A2	25769	broad.mit.edu	37	9	19785946	19785946	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19785946C>T	uc003zoa.1	-	c.919G>A	c.(919-921)GCC>ACC	p.A307T	SLC24A2_uc003zob.1_Missense_Mutation_p.A307T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	307	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)										0.26	30.249211	32.859424	13	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19785946	19785946	14963	9	C	T	T	T	364	28	SLC24A2	2	2
CDKN2A	1029	broad.mit.edu	37	9	21971203	21971203	+	Missense_Mutation	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971203A>C	uc003zpl.2	-	c.321T>G	c.(319-321)CAT>CAG	p.H107Q	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.M52R|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(425)|p.M52K(4)|p.M52fs*2(1)|p.?(1)|p.V28_V51del(1)|p.M52fs*68(1)		haematopoietic_and_lymphoid_tissue(647)|skin(417)|upper_aerodigestive_tract(405)|central_nervous_system(380)|lung(319)|pancreas(237)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|ovary(76)|soft_tissue(73)|biliary_tract(71)|bone(70)|breast(46)|stomach(44)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|large_intestine(9)|salivary_gland(8)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3636		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)				17		76	TSP Lung(5;3.83e-07)			0.526316	37.252194	37.263719	10	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21971203	21971203	3290	9	A	C	C	C	104	8	CDKN2A	4	4
DOCK8	81704	broad.mit.edu	37	9	286583	286583	+	Silent	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:286583G>C	uc003zgf.2	+	c.279G>C	c.(277-279)GTG>GTC	p.V93V	DOCK8_uc011lls.1_Silent_p.V93V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.V25V|DOCK8_uc010mgt.2_Silent_p.V25V|DOCK8_uc003zgg.2_Silent_p.V25V|DOCK8_uc003zgh.2_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.458333	37.322856	37.359132	11	13	KEEP	---	---	---	---	capture		Silent	SNP	286583	286583	4877	9	G	C	C	C	600	47	DOCK8	3	3
UNC13B	10497	broad.mit.edu	37	9	35370326	35370326	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35370326G>T	uc003zwr.2	+	c.1226G>T	c.(1225-1227)GGG>GTG	p.G409V	UNC13B_uc010mkl.1_Missense_Mutation_p.G417C|UNC13B_uc003zwq.2_Missense_Mutation_p.G409V	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	409					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)	4	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)											0.315789	29.882926	31.031806	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35370326	35370326	17543	9	G	T	T	T	559	43	UNC13B	2	2
TLN1	7094	broad.mit.edu	37	9	35719611	35719611	+	Nonsense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35719611C>T	uc003zxt.2	-	c.1592G>A	c.(1591-1593)TGG>TAG	p.W531*		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	531					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							587				0.1875	28.672243	35.993517	15	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35719611	35719611	16477	9	C	T	T	T	273	21	TLN1	5	2
TRPM3	80036	broad.mit.edu	37	9	73213554	73213554	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:73213554C>T	uc004aid.2	-	c.2793G>A	c.(2791-2793)CAG>CAA	p.Q931Q	TRPM3_uc004ahu.2_Silent_p.Q761Q|TRPM3_uc004ahv.2_Silent_p.Q733Q|TRPM3_uc004ahw.2_Silent_p.Q803Q|TRPM3_uc004ahx.2_Silent_p.Q790Q|TRPM3_uc004ahy.2_Silent_p.Q793Q|TRPM3_uc004ahz.2_Silent_p.Q780Q|TRPM3_uc004aia.2_Silent_p.Q778Q|TRPM3_uc004aib.2_Silent_p.Q768Q|TRPM3_uc004aic.2_Silent_p.Q931Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	956	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.176471	25.855107	32.5651	12	56	KEEP	---	---	---	---	capture		Silent	SNP	73213554	73213554	17138	9	C	T	T	T	415	32	TRPM3	2	2
FRMD3	257019	broad.mit.edu	37	9	85863297	85863297	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:85863297C>T	uc004ams.1	-	c.1330G>A	c.(1330-1332)GAA>AAA	p.E444K	FRMD3_uc004amr.1_Missense_Mutation_p.E430K|FRMD3_uc004amq.1_Missense_Mutation_p.E101K	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	444						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)|central_nervous_system(1)	2														0.333333	50.546756	52.039674	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85863297	85863297	6300	9	C	T	T	T	377	29	FRMD3	2	2
SLC28A3	64078	broad.mit.edu	37	9	86902971	86902971	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86902971C>A	uc010mpz.2	-	c.1272G>T	c.(1270-1272)ATG>ATT	p.M424I	SLC28A3_uc011lsy.1_Missense_Mutation_p.M355I|SLC28A3_uc004anu.1_Missense_Mutation_p.M424I	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	424	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.432836	87.063629	87.327429	29	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86902971	86902971	15030	9	C	A	A	A	273	21	SLC28A3	2	2
WNK2	65268	broad.mit.edu	37	9	96025976	96025976	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96025976G>T	uc004ati.1	+	c.3539G>T	c.(3538-3540)CGG>CTG	p.R1180L	WNK2_uc011lud.1_Missense_Mutation_p.R1180L|WNK2_uc004atj.2_Missense_Mutation_p.R1180L|WNK2_uc004atk.2_Missense_Mutation_p.R817L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1180					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|large_intestine(1)|central_nervous_system(1)	7										1420				0.5	8.924728	8.924728	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96025976	96025976	17952	9	G	T	T	T	507	39	WNK2	1	1
PTCH1	5727	broad.mit.edu	37	9	98242849	98242849	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:98242849C>G	uc004avk.3	-	c.768G>C	c.(766-768)TGG>TGC	p.W256C	PTCH1_uc010mro.2_Missense_Mutation_p.W105C|PTCH1_uc010mrp.2_Missense_Mutation_p.W105C|PTCH1_uc010mrq.2_Missense_Mutation_p.W105C|PTCH1_uc004avl.3_Missense_Mutation_p.W105C|PTCH1_uc010mrr.2_Missense_Mutation_p.W190C|PTCH1_uc004avm.3_Missense_Mutation_p.W255C|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_Non-coding_Transcript|PTCH1_uc010mru.1_Non-coding_Transcript	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	256	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.W256*(1)		skin(229)|central_nervous_system(43)|bone(33)|upper_aerodigestive_tract(10)|lung(5)|large_intestine(4)|oesophagus(3)|ovary(3)|breast(2)|vulva(1)	333		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)							p.W256C(JMSU1-Tumor)	509				0.26087	37.678263	40.059266	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98242849	98242849	13184	9	C	G	G	G	390	30	PTCH1	3	3
HABP4	22927	broad.mit.edu	37	9	99227767	99227767	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:99227767G>T	uc010msg.2	+	c.661G>T	c.(661-663)GGG>TGG	p.G221W	HABP4_uc010msh.2_Intron	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	221					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)												0.328571	62.998538	64.823774	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99227767	99227767	7221	9	G	T	T	T	611	47	HABP4	2	2
MCART6	401612	broad.mit.edu	37	X	103349497	103349497	+	Missense_Mutation	SNP	T	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103349497T>G	uc004elu.2	-	c.444A>C	c.(442-444)CAA>CAC	p.Q148H		NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	mitochondrial carrier triple repeat 6	148	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0														0.248276	94.230198	102.588285	36	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103349497	103349497	9760	23	T	G	G	G	725	56	MCART6	4	4
TBC1D8B	54885	broad.mit.edu	37	X	106084040	106084040	+	Missense_Mutation	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106084040G>A	uc004emo.2	+	c.1645G>A	c.(1645-1647)GAT>AAT	p.D549N	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D549N	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	549	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.396226	60.260888	60.761254	21	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106084040	106084040	16152	23	G	A	A	A	585	45	TBC1D8B	2	2
COL4A6	1288	broad.mit.edu	37	X	107554022	107554023	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107554022_107554023CC>AA	uc004enw.3	-	c.102_103GG>TT	c.(100-105)CAGGAC>CATTAC	p.34_35QD>HY	COL4A6_uc004env.3_Missense_Mutation_p.33_34QD>HY|COL4A6_uc011msn.1_Missense_Mutation_p.33_34QD>HY|COL4A6_uc010npk.2_Missense_Mutation_p.33_34QD>HY|COL4A6_uc004enx.2_Non-coding_Transcript|COL4A6_uc004eny.2_Non-coding_Transcript	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	34_35	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.192308	19.815461	24.418857	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	107554022	107554023	3833	23	CC	AA	AA	AA	390	30	COL4A6	2	2
ODZ1	10178	broad.mit.edu	37	X	123556156	123556156	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123556156G>A	uc010nqy.2	-	c.4437C>T	c.(4435-4437)GAC>GAT	p.D1479D	ODZ1_uc011muj.1_Silent_p.D1478D|ODZ1_uc004euj.2_Silent_p.D1472D	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1472	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				0.285714	42.659179	44.980145	16	40	KEEP	---	---	---	---	capture		Silent	SNP	123556156	123556156	11239	23	G	A	A	A	464	36	ODZ1	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125298590	125298590	+	Nonsense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298590C>A	uc004euk.1	-	c.1318G>T	c.(1318-1320)GAG>TAG	p.E440*		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	440										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.284483	81.219872	86.061487	33	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	125298590	125298590	4436	23	C	A	A	A	390	30	DCAF12L2	5	2
FHL1	2273	broad.mit.edu	37	X	135288688	135288688	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135288688G>C	uc004ezo.2	+	c.97G>C	c.(97-99)GAC>CAC	p.D33H	FHL1_uc010nrz.2_Missense_Mutation_p.D33H|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Missense_Mutation_p.D33H|FHL1_uc004ezq.2_Missense_Mutation_p.D33H|FHL1_uc011mvy.1_Missense_Mutation_p.D33H|FHL1_uc011mvz.1_Missense_Mutation_p.D33H|FHL1_uc004ezn.2_Missense_Mutation_p.D33H|FHL1_uc011mwa.1_Missense_Mutation_p.D62H|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.D49H|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	33					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.307692	182.834505	188.832652	56	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135288688	135288688	6116	23	G	C	C	C	585	45	FHL1	3	3
GPR112	139378	broad.mit.edu	37	X	135431523	135431523	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431523C>T	uc004ezu.1	+	c.5658C>T	c.(5656-5658)CCC>CCT	p.P1886P	GPR112_uc010nsb.1_Silent_p.P1681P|GPR112_uc010nsc.1_Silent_p.P1653P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1886	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	11	Acute lymphoblastic leukemia(192;0.000127)									487				0.30303	53.972018	56.259307	20	46	KEEP	---	---	---	---	capture		Silent	SNP	135431523	135431523	6903	23	C	T	T	T	262	21	GPR112	2	2
ZIC3	7547	broad.mit.edu	37	X	136649681	136649681	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136649681G>A	uc004fak.2	+	c.831G>A	c.(829-831)GAG>GAA	p.E277E		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	277	C2H2-type 1; atypical.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.219512	39.999881	45.948597	18	64	KEEP	---	---	---	---	capture		Silent	SNP	136649681	136649681	18271	23	G	A	A	A	438	34	ZIC3	2	2
MAGEC1	9947	broad.mit.edu	37	X	140995104	140995104	+	Silent	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140995104C>A	uc004fbt.2	+	c.1914C>A	c.(1912-1914)TCC>TCA	p.S638S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	638							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.292373	182.762557	191.88455	69	167	KEEP	---	---	---	---	capture		Silent	SNP	140995104	140995104	9561	23	C	A	A	A	262	21	MAGEC1	2	2
MAGEA11	4110	broad.mit.edu	37	X	148797297	148797297	+	Missense_Mutation	SNP	A	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148797297A>T	uc004fdq.2	+	c.226A>T	c.(226-228)AGT>TGT	p.S76C	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.S47C	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	76						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.364583	94.994486	96.544757	35	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148797297	148797297	9542	23	A	T	T	T	143	11	MAGEA11	3	3
CD99L2	83692	broad.mit.edu	37	X	149999767	149999767	+	Splice_Site_SNP	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149999767C>A	uc004fel.2	-	c.68_splice	c.e2-1	p.G23_splice	CD99L2_uc004fem.2_Splice_Site_SNP_p.G23_splice|CD99L2_uc004fen.2_Splice_Site_SNP_p.G23_splice|CD99L2_uc004feo.2_Splice_Site_SNP|CD99L2_uc011myb.1_Splice_Site_SNP_p.G23_splice	NM_031462	NP_113650			CD99 antigen-like 2 isoform E3'-E4'-E3-E4						cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.325	33.958687	35.047038	13	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	149999767	149999767	3179	23	C	A	A	A	312	24	CD99L2	5	2
SLC25A6	293	broad.mit.edu	37	X	1508207	1508207	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1508207C>G	uc004cpt.2	-	c.525G>C	c.(523-525)CAG>CAC	p.Q175H	SLC25A6_uc004cpu.2_Non-coding_Transcript	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	175	Solcar 2.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)									0.22973	79.274129	89.186201	34	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1508207	1508207	15010	23	C	G	G	G	311	24	SLC25A6	3	3
SLC25A6	293	broad.mit.edu	37	X	1508329	1508329	+	Missense_Mutation	SNP	C	G	G			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1508329C>G	uc004cpt.2	-	c.403G>C	c.(403-405)GAT>CAT	p.D135H	SLC25A6_uc004cpu.2_Non-coding_Transcript	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	135	Solcar 2.|Helical; Name=3; (By similarity).				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)									0.188312	72.889093	86.887416	29	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1508329	1508329	15010	23	C	G	G	G	390	30	SLC25A6	3	3
CNGA2	1260	broad.mit.edu	37	X	150912332	150912332	+	Missense_Mutation	SNP	C	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150912332C>A	uc004fey.1	+	c.1357C>A	c.(1357-1359)CGC>AGC	p.R453S		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	453	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.26	34.250586	36.859266	13	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150912332	150912332	3735	23	C	A	A	A	351	27	CNGA2	1	1
ASB9	140462	broad.mit.edu	37	X	15268584	15268584	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:15268584T>C	uc004cwl.2	-	c.536A>G	c.(535-537)CAG>CGG	p.Q179R	ASB9_uc004cwk.2_Missense_Mutation_p.Q179R|ASB9_uc004cwm.2_Missense_Mutation_p.Q169R|ASB9_uc010ner.2_Missense_Mutation_p.Q179R|ASB9_uc004cwn.2_Missense_Mutation_p.Q150R	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	179	ANK 5.				intracellular signal transduction						0	Hepatocellular(33;0.183)													0.271186	46.473921	49.259478	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15268584	15268584	1048	23	T	C	C	C	715	55	ASB9	4	4
F8	2157	broad.mit.edu	37	X	154133184	154133184	+	Missense_Mutation	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154133184C>T	uc004fmt.2	-	c.5488G>A	c.(5488-5490)GAA>AAA	p.E1830K	F8_uc010nvi.1_5'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1830	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.346154	24.865762	25.409729	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154133184	154133184	5544	23	C	T	T	T	377	29	F8	2	2
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2209550G>A	uc004cqf.3	-	c.381C>T	c.(379-381)ATC>ATT	p.I127I		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127					oxidation-reduction process		binding|oxidoreductase activity				0		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)												0.25	33.8238	37.005246	14	42	KEEP	---	---	---	---	capture		Silent	SNP	2209550	2209550	4678	23	G	A	A	A	577	45	DHRSX	2	2
MAGEB6	158809	broad.mit.edu	37	X	26212971	26212971	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:26212971G>T	uc004dbr.2	+	c.1008G>T	c.(1006-1008)TTG>TTT	p.L336F	MAGEB6_uc010ngc.1_Missense_Mutation_p.L116F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	336	MAGE.									ovary(3)	3														0.238532	62.990401	69.799822	26	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26212971	26212971	9560	23	G	T	T	T	607	47	MAGEB6	2	2
FTHL17	53940	broad.mit.edu	37	X	31089993	31089993	+	Silent	SNP	C	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31089993C>T	uc004dcl.1	-	c.78G>A	c.(76-78)ACG>ACA	p.T26T		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	26	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|oxidation-reduction process		ferric iron binding|oxidoreductase activity				0														0.274194	42.161005	45.001016	17	45	KEEP	---	---	---	---	capture		Silent	SNP	31089993	31089993	6334	23	C	T	T	T	340	27	FTHL17	1	1
DUSP21	63904	broad.mit.edu	37	X	44703735	44703735	+	Silent	SNP	G	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:44703735G>A	uc004dgd.2	+	c.357G>A	c.(355-357)GCG>GCA	p.A119A		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	119	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2														0.233333	31.316094	35.227206	14	46	KEEP	---	---	---	---	capture		Silent	SNP	44703735	44703735	5005	23	G	A	A	A	509	40	DUSP21	1	1
PQBP1	10084	broad.mit.edu	37	X	48758546	48758546	+	Silent	SNP	A	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48758546A>C	uc004dle.2	+	c.147A>C	c.(145-147)CCA>CCC	p.P49P	PQBP1_uc004dlf.2_Silent_p.P49P|PQBP1_uc004dlg.2_Silent_p.P49P|PQBP1_uc004dld.2_Non-coding_Transcript|PQBP1_uc004dlh.2_Silent_p.P49P|PQBP1_uc004dli.2_Silent_p.P49P|PQBP1_uc004dlj.1_Silent_p.P49P|PQBP1_uc004dln.2_Silent_p.P49P|PQBP1_uc010nih.2_Non-coding_Transcript|PQBP1_uc010nii.2_5'UTR|PQBP1_uc004dlk.2_Silent_p.P49P|PQBP1_uc004dll.2_Missense_Mutation_p.H17P|PQBP1_uc004dlm.2_5'UTR|PQBP1_uc010nij.2_Silent_p.P49P	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	49	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1														0.363636	13.301476	13.479546	4	7	KEEP	---	---	---	---	capture		Silent	SNP	48758546	48758546	12853	23	A	C	C	C	67	6	PQBP1	4	4
PHKA1	5255	broad.mit.edu	37	X	71800926	71800926	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71800926T>C	uc004eax.3	-	c.3598A>G	c.(3598-3600)ATG>GTG	p.M1200V	PHKA1_uc004eay.3_Missense_Mutation_p.M1187V|PHKA1_uc011mqi.1_Missense_Mutation_p.M1128V|PHKA1_uc010nll.2_Missense_Mutation_p.M232V	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1200					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)	3	Renal(35;0.156)													0.277778	14.977934	15.771092	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71800926	71800926	12267	23	T	C	C	C	663	51	PHKA1	4	4
MAGEE2	139599	broad.mit.edu	37	X	75003878	75003878	+	Missense_Mutation	SNP	G	T	T			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75003878G>T	uc004ecj.1	-	c.1009C>A	c.(1009-1011)CTA>ATA	p.L337I		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	337	MAGE 2.									ovary(1)	1														0.2	19.047326	22.815983	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75003878	75003878	9569	23	G	T	T	T	438	34	MAGEE2	2	2
KLHL4	56062	broad.mit.edu	37	X	86868907	86868907	+	Missense_Mutation	SNP	G	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86868907G>C	uc004efa.2	+	c.450G>C	c.(448-450)ATG>ATC	p.M150I	KLHL4_uc004efb.2_Missense_Mutation_p.M150I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	150						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.357143	15.162571	15.417665	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86868907	86868907	8705	23	G	C	C	C	585	45	KLHL4	3	3
NAP1L3	4675	broad.mit.edu	37	X	92927019	92927019	+	Missense_Mutation	SNP	T	C	C			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92927019T>C	uc004efq.2	-	c.1285A>G	c.(1285-1287)ATC>GTC	p.I429V	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	429					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.8	13.804952	14.220518	4	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92927019	92927019	10554	23	T	C	C	C	676	52	NAP1L3	4	4
CACNA1C	775	broad.mit.edu	37	12	2659197	2659197	+	Frame_Shift_Del	DEL	G	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2659197_2659197delG	uc009zdu.1	+	c.1479_1479delG	c.(1477-1479)CTGfs	p.L493fs	CACNA1C_uc009zdv.1_Frame_Shift_Del_p.L490fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkc.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.L493fs|CACNA1C_uc001qka.1_Frame_Shift_Del_p.L28fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.L229fs|CACNA1C_uc001qkj.1_Frame_Shift_Del_p.L229fs|CACNA1C_uc001qkk.1_Frame_Shift_Del_p.L229fs|CACNA1C_uc001qkm.1_Frame_Shift_Del_p.L229fs|CACNA1C_uc009zdy.1_Frame_Shift_Del_p.L118fs|CACNA1C_uc001qkv.1_Frame_Shift_Del_p.L63fs	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	493	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)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	2659197	2659197	2656	12	G	-	-	-	600	47	CACNA1C	5	5
NAV3	89795	broad.mit.edu	37	12	78400665	78400665	+	Frame_Shift_Del	DEL	A	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400665_78400665delA	uc001syp.2	+	c.1347_1347delA	c.(1345-1347)CCAfs	p.P449fs	NAV3_uc001syo.2_Frame_Shift_Del_p.P449fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	449						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.40			33	49		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	78400665	78400665	10581	12	A	-	-	-	54	5	NAV3	5	5
SYNE2	23224	broad.mit.edu	37	14	64606758	64606758	+	Frame_Shift_Del	DEL	G	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64606758_64606758delG	uc001xgl.2	+	c.14943_14943delG	c.(14941-14943)TTGfs	p.L4981fs	SYNE2_uc001xgm.2_Frame_Shift_Del_p.L4981fs|SYNE2_uc010apy.2_Frame_Shift_Del_p.L1366fs|SYNE2_uc001xgn.2_5'UTR|SYNE2_uc001xgo.2_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4981	Spectrin 1.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.40			39	59		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	64606758	64606758	15967	14	G	-	-	-	607	47	SYNE2	5	5
ZNF319	57567	broad.mit.edu	37	16	58030897	58030897	+	Frame_Shift_Del	DEL	C	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58030897_58030897delC	uc002emx.1	-	c.1273_1273delG	c.(1273-1275)GAGfs	p.E425fs		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.40			17	26		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	58030897	58030897	18429	16	C	-	-	-	403	31	ZNF319	5	5
SMARCA4	6597	broad.mit.edu	37	19	11138587	11138588	+	Frame_Shift_Ins	INS	-	A	A			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11138587_11138588insA	uc010dxo.2	+	c.3343_3344insA	c.(3343-3345)TACfs	p.Y1115fs	SMARCA4_uc002mqf.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxp.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqg.1_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxq.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxr.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc002mqj.3_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxs.2_Frame_Shift_Ins_p.Y1115fs|SMARCA4_uc010dxt.1_Frame_Shift_Ins_p.Y335fs|SMARCA4_uc002mqh.3_Frame_Shift_Ins_p.Y238fs|SMARCA4_uc002mqi.1_Frame_Shift_Ins_p.Y318fs	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1115	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.?(2)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.44			101	126		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	11138587	11138588	15268	19	-	A	A	A	793	61	SMARCA4	5	5
ZSCAN1	284312	broad.mit.edu	37	19	58565262	58565268	+	Frame_Shift_Del	DEL	CCCGGGA	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58565262_58565268delCCCGGGA	uc002qrc.1	+	c.1070_1076delCCCGGGA	c.(1069-1077)CCCCGGGAGfs	p.P357fs		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	357_359					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.39			22	34		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	58565262	58565268	18830	19	CCCGGGA	-	-	-	286	22	ZSCAN1	5	5
COL9A2	1298	broad.mit.edu	37	1	40777384	40777384	+	Frame_Shift_Del	DEL	C	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40777384_40777384delC	uc001cfh.1	-	c.421_421delG	c.(421-423)GACfs	p.D141fs	COL9A2_uc001cfi.1_5'UTR	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	141	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX	extracellular matrix structural constituent conferring tensile strength	p.D141N(1)		ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)											0.42			43	59		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	40777384	40777384	3846	1	C	-	-	-	390	30	COL9A2	5	5
NRXN1	9378	broad.mit.edu	37	2	51255156	51255157	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51255156_51255157delCG	uc010fbq.2	-	c.255_256delCG	c.(253-258)CGCGGCfs	p.R85fs	NRXN1_uc002rxe.3_Frame_Shift_Del_p.R85fs|NRXN1_uc002rxd.1_Frame_Shift_Del_p.R85fs	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	149_150	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.55			12	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	51255156	51255157	11070	2	CG	-	-	-	299	23	NRXN1	5	5
CSMD1	64478	broad.mit.edu	37	8	3265561	3265561	+	Frame_Shift_Del	DEL	C	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3265561_3265561delC	uc011kwk.1	-	c.1934_1934delG	c.(1933-1935)GGCfs	p.G645fs	CSMD1_uc011kwj.1_Frame_Shift_Del_p.G37fs	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	645	Extracellular (Potential).|CUB 4.					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)										0.43			10	13		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3265561	3265561	4085	8	C	-	-	-	338	26	CSMD1	5	5
DCAF8L1	139425	broad.mit.edu	37	X	27997961	27997962	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-67-3771-01	TCGA-67-3771-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27997961_27997962delCG	uc004dbx.1	-	c.1490_1491delCG	c.(1489-1491)GCGfs	p.A497fs		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	497	WD 7.									ovary(3)	3														0.32			12	26		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	27997961	27997962	4448	23	CG	-	-	-	392	31	DCAF8L1	5	5
