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
DNMBP	23268	broad.mit.edu	37	10	101715478	101715478	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101715478C>G	uc001kqj.2	-	c.1753G>C	c.(1753-1755)GAG>CAG	p.E585Q	NCRNA00093_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	585					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.073171	0.484478	15.842909	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101715478	101715478	4857	10	C	G	G	G	377	29	DNMBP	3	3
DNMBP	23268	broad.mit.edu	37	10	101715910	101715910	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101715910C>T	uc001kqj.2	-	c.1321G>A	c.(1321-1323)GAA>AAA	p.E441K	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	441					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)	5		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)										0.093137	9.971957	43.937416	19	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101715910	101715910	4857	10	C	T	T	T	416	32	DNMBP	2	2
NFKB2	4791	broad.mit.edu	37	10	104157429	104157429	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104157429C>T	uc001kvb.2	+	c.648C>T	c.(646-648)CCC>CCT	p.P216P	NFKB2_uc001kva.2_Silent_p.P216P|NFKB2_uc010qqk.1_Silent_p.P216P|NFKB2_uc001kvd.2_Silent_p.P216P|NFKB2_uc009xxc.2_Silent_p.P216P	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	216	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)						140				0.071429	-2.3126	13.581085	6	78	KEEP	---	---	---	---	capture		Silent	SNP	104157429	104157429	10776	10	C	T	T	T	262	21	NFKB2	2	2
TRIM8	81603	broad.mit.edu	37	10	104414408	104414408	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104414408A>G	uc001kvz.2	+	c.571_splice	c.e2-2	p.K191_splice		NM_030912	NP_112174			tripartite motif-containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)										0.190083	96.917782	118.650431	46	196	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104414408	104414408	17098	10	A	G	G	G	91	7	TRIM8	5	4
PDCD11	22984	broad.mit.edu	37	10	105193765	105193765	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105193765C>T	uc001kwy.1	+	c.3535C>T	c.(3535-3537)CCC>TCC	p.P1179S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1179	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)						545				0.16	21.880511	30.113938	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105193765	105193765	12038	10	C	T	T	T	390	30	PDCD11	2	2
C10orf79	80217	broad.mit.edu	37	10	105971899	105971899	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105971899G>C	uc001kxw.2	-	c.601C>G	c.(601-603)CTA>GTA	p.L201V	C10orf79_uc001kxx.3_Missense_Mutation_p.L201V|C10orf79_uc001kxy.1_Missense_Mutation_p.L201V|C10orf79_uc001kxz.2_Missense_Mutation_p.L201V	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	201											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)										0.180723	36.673695	44.626882	15	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105971899	105971899	1655	10	G	C	C	C	425	33	C10orf79	3	3
SORCS1	114815	broad.mit.edu	37	10	108459118	108459118	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108459118C>A	uc001kyl.2	-	c.1267G>T	c.(1267-1269)GTG>TTG	p.V423L	SORCS1_uc001kym.2_Missense_Mutation_p.V423L|SORCS1_uc009xxs.2_Missense_Mutation_p.V423L|SORCS1_uc001kyn.1_Missense_Mutation_p.V423L|SORCS1_uc001kyo.2_Missense_Mutation_p.V423L	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	423	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.1	4.271794	15.462178	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108459118	108459118	15430	10	C	A	A	A	234	18	SORCS1	2	2
PDCD4	27250	broad.mit.edu	37	10	112653897	112653897	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112653897G>T	uc001kzh.2	+	c.1039G>T	c.(1039-1041)GCT>TCT	p.A347S	PDCD4_uc001kzg.2_Missense_Mutation_p.A336S|PDCD4_uc010qre.1_Missense_Mutation_p.A333S	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	347	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		Ovarian(115;1498 1603 9363 40056 40885)								0.047619	-10.27506	8.029889	4	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112653897	112653897	12042	10	G	T	T	T	442	34	PDCD4	2	2
GPAM	57678	broad.mit.edu	37	10	113919791	113919791	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:113919791G>C	uc009xxy.1	-	c.1780C>G	c.(1780-1782)CTG>GTG	p.L594V	GPAM_uc001kzp.2_Missense_Mutation_p.L594V|GPAM_uc001kzq.1_Missense_Mutation_p.L594V	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	594	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)	1				Epithelial(162;0.0306)|all cancers(201;0.123)		Ovarian(161;1017 2606 18293 52943)								0.085366	2.760796	17.06023	7	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113919791	113919791	6862	10	G	C	C	C	425	33	GPAM	3	3
CASP7	840	broad.mit.edu	37	10	115451722	115451722	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115451722G>C	uc001lao.2	+	c.-7_splice	c.e2-1		CASP7_uc001lam.2_Intron|CASP7_uc001lan.2_Intron|CASP7_uc001lap.2_Intron|CASP7_uc001laq.2_Intron|CASP7_uc010qsa.1_Intron	NM_033338	NP_203124			caspase 7 isoform delta						activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)						231				0.137255	11.889553	18.383292	7	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	115451722	115451722	2795	10	G	C	C	C	429	33	CASP7	5	3
PNLIPRP3	119548	broad.mit.edu	37	10	118236245	118236245	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118236245C>T	uc001lcl.3	+	c.1254C>T	c.(1252-1254)TTC>TTT	p.F418F		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	418	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.246667	89.792883	98.56417	37	113	KEEP	---	---	---	---	capture		Silent	SNP	118236245	118236245	12578	10	C	T	T	T	376	29	PNLIPRP3	2	2
FGFR2	2263	broad.mit.edu	37	10	123324982	123324982	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123324982C>T	uc010qtj.1	-	c.346G>A	c.(346-348)GAA>AAA	p.E116K	FGFR2_uc010qtg.1_Missense_Mutation_p.E116K|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtk.1_Missense_Mutation_p.E116K|FGFR2_uc010qtl.1_Missense_Mutation_p.E116K|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.E116K|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.E135K|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.E135K|FGFR2_uc010qtp.1_Missense_Mutation_p.E135K|FGFR2_uc010qtq.1_Missense_Mutation_p.E135K	NM_022970	NP_075259	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 2	116	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of gene-specific transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|protein phosphorylation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(39)|skin(28)|lung(7)|ovary(4)|cervix(2)|stomach(2)|breast(2)|soft_tissue(1)|central_nervous_system(1)	86		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)			5		350				0.088235	0.597237	12.258327	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123324982	123324982	6103	10	C	T	T	T	377	29	FGFR2	2	2
TACC2	10579	broad.mit.edu	37	10	123846369	123846369	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123846369C>G	uc001lfv.2	+	c.4354C>G	c.(4354-4356)CTA>GTA	p.L1452V	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.L1452V|TACC2_uc010qtv.1_Missense_Mutation_p.L1452V	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1452						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.222222	13.834143	15.752485	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123846369	123846369	16023	10	C	G	G	G	415	32	TACC2	3	3
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124395546C>A	uc001lgk.1	+	c.6201C>A	c.(6199-6201)TTC>TTA	p.F2067L	DMBT1_uc001lgl.1_Missense_Mutation_p.F2057L|DMBT1_uc001lgm.1_Missense_Mutation_p.F1439L|DMBT1_uc009xzz.1_Missense_Mutation_p.F2066L|DMBT1_uc010qtx.1_Missense_Mutation_p.F787L|DMBT1_uc009yab.1_Missense_Mutation_p.F770L|DMBT1_uc009yac.1_Missense_Mutation_p.F361L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2067	CUB 2.				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)								0.130435	7.585861	13.791462	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124395546	124395546	4757	10	C	A	A	A	402	31	DMBT1	1	1
CUZD1	50624	broad.mit.edu	37	10	124596455	124596455	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124596455C>T	uc001lgq.2	-	c.709G>A	c.(709-711)GAA>AAA	p.E237K	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Missense_Mutation_p.E237K|CUZD1_uc010qtz.1_Missense_Mutation_p.E237K	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	237	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)										0.148148	11.79086	18.190633	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124596455	124596455	4226	10	C	T	T	T	403	31	CUZD1	1	1
LHPP	64077	broad.mit.edu	37	10	126185591	126185591	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126185591G>A	uc001lhs.1	+	c.529G>A	c.(529-531)GAG>AAG	p.E177K	LHPP_uc001lht.1_Missense_Mutation_p.E177K|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	177							inorganic diphosphatase activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GBM(165;1980 2715 15999 18454)								0.102564	2.922663	15.265597	8	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126185591	126185591	9095	10	G	A	A	A	585	45	LHPP	2	2
DHX32	55760	broad.mit.edu	37	10	127540983	127540983	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127540983G>C	uc001ljf.1	-	c.1230C>G	c.(1228-1230)TCC>TCG	p.S410S	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Silent_p.S34S|DHX32_uc001ljg.1_Silent_p.S410S|DHX32_uc009yam.1_Silent_p.S165S	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	410						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.107143	4.246476	12.793099	6	50	KEEP	---	---	---	---	capture		Silent	SNP	127540983	127540983	4684	10	G	C	C	C	600	47	DHX32	3	3
FRG2B	441581	broad.mit.edu	37	10	135438867	135438867	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135438867G>C	uc010qvg.1	-	c.573C>G	c.(571-573)GCC>GCG	p.A191A		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)										0.198113	44.402522	53.338015	21	85	KEEP	---	---	---	---	capture		Silent	SNP	135438867	135438867	6296	10	G	C	C	C	548	43	FRG2B	3	3
TRDMT1	1787	broad.mit.edu	37	10	17201212	17201212	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17201212G>T	uc001iop.2	-	c.476C>A	c.(475-477)TCA>TAA	p.S159*	TRDMT1_uc001ioq.2_Nonsense_Mutation_p.S135*|TRDMT1_uc001ior.2_Nonsense_Mutation_p.S113*|TRDMT1_uc001ios.2_Nonsense_Mutation_p.S88*|TRDMT1_uc009xjt.2_Nonsense_Mutation_p.S78*|TRDMT1_uc010qcc.1_Nonsense_Mutation_p.S88*|TRDMT1_uc010qcd.1_Intron|TRDMT1_uc009xjs.1_Nonsense_Mutation_p.S76*|TRDMT1_uc009xju.1_Non-coding_Transcript	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	159						nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding|tRNA (cytosine-5-)-methyltransferase activity			ovary(1)	1														0.069444	-5.689569	8.127471	5	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17201212	17201212	17011	10	G	T	T	T	585	45	TRDMT1	5	2
C10orf140	387640	broad.mit.edu	37	10	21806653	21806653	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21806653G>T	uc009xkd.2	-	c.99C>A	c.(97-99)TTC>TTA	p.F33L	C10orf140_uc010qcs.1_Missense_Mutation_p.F33L	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	33						nucleus	nucleotide binding			ovary(1)	1														0.205479	33.484721	39.35716	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21806653	21806653	1632	10	G	T	T	T	581	45	C10orf140	2	2
MSRB2	22921	broad.mit.edu	37	10	23409755	23409755	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23409755C>T	uc001iro.2	+	c.513C>T	c.(511-513)AAC>AAT	p.N171N		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2 precursor	171					oxidation-reduction process|protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0					L-Methionine(DB00134)	Esophageal Squamous(89;1240 1363 4973 30188 42299)								0.235294	18.180166	20.361569	8	26	KEEP	---	---	---	---	capture		Silent	SNP	23409755	23409755	10281	10	C	T	T	T	220	17	MSRB2	2	2
GPR158	57512	broad.mit.edu	37	10	25464427	25464427	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25464427C>T	uc001isj.2	+	c.78C>T	c.(76-78)CGC>CGT	p.R26R	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	26	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.235294	8.912245	9.987593	4	13	KEEP	---	---	---	---	capture		Silent	SNP	25464427	25464427	6938	10	C	T	T	T	340	27	GPR158	1	1
MYO3A	53904	broad.mit.edu	37	10	26443682	26443682	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26443682C>G	uc001isn.2	+	c.2723C>G	c.(2722-2724)ACT>AGT	p.T908S	MYO3A_uc009xko.1_Missense_Mutation_p.T908S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	908	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.103448	3.803609	8.343257	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26443682	26443682	10471	10	C	G	G	G	260	20	MYO3A	3	3
APBB1IP	54518	broad.mit.edu	37	10	26802497	26802497	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26802497G>T	uc001iss.2	+	c.721G>T	c.(721-723)GTT>TTT	p.V241F	APBB1IP_uc009xks.1_Missense_Mutation_p.V241F	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	241	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7										307				0.068966	-1.847938	9.289828	4	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26802497	26802497	770	10	G	T	T	T	624	48	APBB1IP	2	2
ANKRD26	22852	broad.mit.edu	37	10	27317875	27317875	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27317875C>A	uc009xku.1	-	c.3879_splice	c.e27-1	p.K1293_splice	ANKRD26_uc001itg.2_Splice_Site_SNP_p.K979_splice|ANKRD26_uc001ith.2_Splice_Site_SNP_p.K1292_splice	NM_014915	NP_055730			ankyrin repeat domain 26											large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.121212	5.075564	9.716892	4	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	27317875	27317875	659	10	C	A	A	A	312	24	ANKRD26	5	2
ARMC4	55130	broad.mit.edu	37	10	28276388	28276388	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28276388G>C	uc009xky.2	-	c.309C>G	c.(307-309)AGC>AGG	p.S103R	ARMC4_uc001itz.2_Missense_Mutation_p.S103R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	103							binding			ovary(4)	4														0.067797	-1.546756	9.858514	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28276388	28276388	971	10	G	C	C	C	438	34	ARMC4	3	3
WAC	51322	broad.mit.edu	37	10	28884967	28884967	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28884967A>C	uc001iuf.2	+	c.916A>C	c.(916-918)AAA>CAA	p.K306Q	WAC_uc001iud.2_Missense_Mutation_p.K261Q|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.K261Q|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.K261Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	306					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2														0.051282	-12.147413	12.796215	6	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28884967	28884967	17819	10	A	C	C	C	13	1	WAC	4	4
WAC	51322	broad.mit.edu	37	10	28905115	28905115	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28905115C>G	uc001iuf.2	+	c.1570C>G	c.(1570-1572)CCA>GCA	p.P524A	WAC_uc001iud.2_Missense_Mutation_p.P479A|WAC_uc001iue.2_Missense_Mutation_p.P214A|WAC_uc001iug.2_Missense_Mutation_p.P421A|WAC_uc001iuh.2_Missense_Mutation_p.P475A	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	WW domain-containing adapter with a coiled-coil	524					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			large_intestine(1)|ovary(1)	2														0.049383	-8.470097	8.993432	4	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28905115	28905115	17819	10	C	G	G	G	390	30	WAC	3	3
SVIL	6840	broad.mit.edu	37	10	29762821	29762821	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29762821C>T	uc001iut.1	-	c.5475G>A	c.(5473-5475)GAG>GAA	p.E1825E	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.E739E|SVIL_uc001iuu.1_Silent_p.E1399E	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1825	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.272727	21.043024	22.594514	9	24	KEEP	---	---	---	---	capture		Silent	SNP	29762821	29762821	15941	10	C	T	T	T	415	32	SVIL	2	2
SVIL	6840	broad.mit.edu	37	10	29821030	29821030	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:29821030C>A	uc001iut.1	-	c.1910G>T	c.(1909-1911)CGG>CTG	p.R637L	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	637					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)	5		Breast(68;0.103)												0.148649	17.620158	26.351496	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29821030	29821030	15941	10	C	A	A	A	299	23	SVIL	1	1
PITRM1	10531	broad.mit.edu	37	10	3197873	3197873	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:3197873G>A	uc001igt.1	-	c.1531C>T	c.(1531-1533)CAC>TAC	p.H511Y	PITRM1_uc001igr.1_Missense_Mutation_p.H511Y|PITRM1_uc010qah.1_Missense_Mutation_p.H479Y|PITRM1_uc009xhv.1_Missense_Mutation_p.H76Y|PITRM1_uc001igu.1_Missense_Mutation_p.H503Y|PITRM1_uc010qai.1_Missense_Mutation_p.H482Y|PITRM1_uc001igw.1_Missense_Mutation_p.H511Y	NM_014889	NP_055704	Q5JRX3	PREP_HUMAN	metalloprotease 1 precursor	511					proteolysis	mitochondrial matrix|nucleus	enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			pancreas(1)	1														0.09589	3.192507	15.134112	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3197873	3197873	12377	10	G	A	A	A	585	45	PITRM1	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37430931	37430931	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37430931C>A	uc001iza.1	+	c.938C>A	c.(937-939)TCT>TAT	p.S313Y		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	369					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.175676	49.851473	64.537892	26	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37430931	37430931	663	10	C	A	A	A	416	32	ANKRD30A	2	2
ZNF25	219749	broad.mit.edu	37	10	38241154	38241154	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38241154C>A	uc001ize.1	-	c.1272G>T	c.(1270-1272)AAG>AAT	p.K424N	ZNF25_uc001izf.1_Missense_Mutation_p.K388N	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)												0.171053	24.925576	32.703726	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38241154	38241154	18385	10	C	A	A	A	363	28	ZNF25	2	2
ZNF239	8187	broad.mit.edu	37	10	44053086	44053086	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44053086C>A	uc001jaw.3	-	c.442G>T	c.(442-444)GAT>TAT	p.D148Y	ZNF239_uc001jax.3_Missense_Mutation_p.D148Y|ZNF239_uc009xmj.2_Missense_Mutation_p.D148Y|ZNF239_uc009xmk.2_Missense_Mutation_p.D148Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0														0.30137	55.317021	57.892198	22	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44053086	44053086	18382	10	C	A	A	A	390	30	ZNF239	2	2
RBP3	5949	broad.mit.edu	37	10	48387868	48387868	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48387868G>A	uc001jez.2	-	c.3010C>T	c.(3010-3012)CCT>TCT	p.P1004S		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	1004	4 X approximate tandem repeats.|4.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.186047	18.398429	22.351671	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48387868	48387868	13626	10	G	A	A	A	559	43	RBP3	2	2
PCDH15	65217	broad.mit.edu	37	10	55568648	55568648	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55568648C>A	uc010qhs.1	-	c.5177G>T	c.(5176-5178)GGC>GTC	p.G1726V	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.G1719V|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.210526	8.795386	10.264045	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55568648	55568648	11931	10	C	A	A	A	338	26	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	55581695	55581695	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55581695C>T	uc010qhy.1	-	c.5812G>A	c.(5812-5814)GAA>AAA	p.E1938K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E785K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1928K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1891K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1862K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1933K|PCDH15_uc010qia.1_Missense_Mutation_p.E1911K|PCDH15_uc001jju.1_Missense_Mutation_p.E1931K|PCDH15_uc010qib.1_Missense_Mutation_p.E1908K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1931	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.125	4.845113	10.345731	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55581695	55581695	11931	10	C	T	T	T	377	29	PCDH15	2	2
RBM17	84991	broad.mit.edu	37	10	6148146	6148146	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6148146A>T	uc001ijb.2	+	c.450A>T	c.(448-450)AGA>AGT	p.R150S	RBM17_uc010qav.1_Missense_Mutation_p.R150S	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	150					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0														0.218182	25.470509	29.497928	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6148146	6148146	13580	10	A	T	T	T	128	10	RBM17	3	3
ANK3	288	broad.mit.edu	37	10	61833745	61833745	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61833745C>A	uc001jky.2	-	c.6894G>T	c.(6892-6894)TCG>TCT	p.S2298S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2298					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.13253	15.770444	26.653741	11	72	KEEP	---	---	---	---	capture		Silent	SNP	61833745	61833745	625	10	C	A	A	A	288	23	ANK3	1	1
ARID5B	84159	broad.mit.edu	37	10	63852624	63852624	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63852624G>A	uc001jlt.1	+	c.3402G>A	c.(3400-3402)CCG>CCA	p.P1134P		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1134					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			ovary(2)|kidney(1)	3	Prostate(12;0.016)|all_hematologic(501;0.215)													0.0625	-8.022087	11.132905	6	90	KEEP	---	---	---	---	capture		Silent	SNP	63852624	63852624	937	10	G	A	A	A	470	37	ARID5B	1	1
HERC4	26091	broad.mit.edu	37	10	69785392	69785392	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69785392C>A	uc001jng.3	-	c.819G>T	c.(817-819)CAG>CAT	p.Q273H	HERC4_uc001jnf.3_Non-coding_Transcript|HERC4_uc001jnh.3_Missense_Mutation_p.Q273H|HERC4_uc009xpr.2_Missense_Mutation_p.Q273H|HERC4_uc001jni.3_Missense_Mutation_p.Q17H|HERC4_uc001jnj.2_Missense_Mutation_p.Q273H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	273	RCC1 6.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3														0.326087	123.557685	127.245239	45	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69785392	69785392	7343	10	C	A	A	A	259	20	HERC4	2	2
MYPN	84665	broad.mit.edu	37	10	69935135	69935135	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69935135G>A	uc001jnm.3	+	c.2620G>A	c.(2620-2622)GAT>AAT	p.D874N	MYPN_uc001jnn.3_Missense_Mutation_p.D599N|MYPN_uc001jno.3_Missense_Mutation_p.D874N|MYPN_uc009xpt.2_Missense_Mutation_p.D874N|MYPN_uc010qit.1_Missense_Mutation_p.D580N|MYPN_uc010qiu.1_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	874						nucleus|sarcomere	actin binding			ovary(3)	3														0.184211	14.500761	18.05714	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69935135	69935135	10493	10	G	A	A	A	585	45	MYPN	2	2
KIAA1279	26128	broad.mit.edu	37	10	70776073	70776073	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70776073C>T	uc001joy.2	+	c.1767C>T	c.(1765-1767)GCC>GCT	p.A589A		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	589					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1														0.265625	44.753861	47.925841	17	47	KEEP	---	---	---	---	capture		Silent	SNP	70776073	70776073	8530	10	C	T	T	T	288	23	KIAA1279	1	1
HKDC1	80201	broad.mit.edu	37	10	71010295	71010295	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71010295G>C	uc001jpf.3	+	c.1723G>C	c.(1723-1725)GAT>CAT	p.D575H	HKDC1_uc010qje.1_Missense_Mutation_p.D438H	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	575					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)	4														0.12	13.812993	28.055256	12	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71010295	71010295	7484	10	G	C	C	C	585	45	HKDC1	3	3
UNC5B	219699	broad.mit.edu	37	10	73048713	73048713	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73048713A>T	uc001jro.2	+	c.1067_splice	c.e8-2	p.N356_splice	UNC5B_uc001jrp.2_Intron	NM_170744	NP_734465			unc-5 homolog B precursor						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.361702	48.767566	49.556154	17	30	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	73048713	73048713	17550	10	A	T	T	T	91	7	UNC5B	5	3
TTC18	118491	broad.mit.edu	37	10	75107924	75107924	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75107924G>C	uc009xrc.2	-	c.419C>G	c.(418-420)TCA>TGA	p.S140*	TTC18_uc001jty.2_Nonsense_Mutation_p.S140*|TTC18_uc009xrd.1_Intron	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	140							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)													0.25	40.094889	43.504725	15	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75107924	75107924	17239	10	G	C	C	C	585	45	TTC18	5	3
USP54	159195	broad.mit.edu	37	10	75280781	75280781	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75280781C>A	uc001juo.2	-	c.2367G>T	c.(2365-2367)AGG>AGT	p.R789S	USP54_uc010qkk.1_Intron|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Non-coding_Transcript|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Missense_Mutation_p.R789S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	789					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(1)|kidney(1)	2	Prostate(51;0.0112)					Colon(195;880 2046 8854 25025 38456)								0.242424	17.081297	19.080151	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75280781	75280781	17649	10	C	A	A	A	389	30	USP54	2	2
ITIH2	3698	broad.mit.edu	37	10	7773947	7773947	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7773947C>T	uc001ijs.2	+	c.1635C>T	c.(1633-1635)ATC>ATT	p.I545I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	545					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.195652	36.900507	44.843059	18	74	KEEP	---	---	---	---	capture		Silent	SNP	7773947	7773947	8208	10	C	T	T	T	369	29	ITIH2	2	2
IFIT5	24138	broad.mit.edu	37	10	91177635	91177635	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91177635G>C	uc010qnh.1	+	c.679G>C	c.(679-681)GAT>CAT	p.D227H	IFIT5_uc010qng.1_Missense_Mutation_p.D179H	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	227							binding				0														0.107143	10.710381	23.575077	9	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91177635	91177635	7826	10	G	C	C	C	429	33	IFIT5	3	3
HTR7	3363	broad.mit.edu	37	10	92508816	92508816	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:92508816T>A	uc001kha.2	-	c.1075A>T	c.(1075-1077)AGC>TGC	p.S359C	HTR7_uc001kgz.2_Missense_Mutation_p.S359C|HTR7_uc001khb.2_Missense_Mutation_p.S359C	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	359	Extracellular (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)									0.183099	26.432272	33.1275	13	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92508816	92508816	7752	10	T	A	A	A	715	55	HTR7	3	3
PLCE1	51196	broad.mit.edu	37	10	96005702	96005702	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96005702G>T	uc001kjk.2	+	c.2421_splice	c.e8-1	p.Q807_splice	PLCE1_uc010qnx.1_Splice_Site_SNP_p.Q807_splice|PLCE1_uc001kjm.2_Splice_Site_SNP_p.Q499_splice	NM_016341	NP_057425			phospholipase C, epsilon 1 isoform 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.264706	21.457535	23.160686	9	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	96005702	96005702	12460	10	G	T	T	T	455	35	PLCE1	5	2
NOC3L	64318	broad.mit.edu	37	10	96093972	96093972	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96093972G>C	uc001kjq.1	-	c.2365C>G	c.(2365-2367)CTG>GTG	p.L789V		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	789						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)												0.184211	13.501072	17.058939	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96093972	96093972	10917	10	G	C	C	C	425	33	NOC3L	3	3
C10orf12	26148	broad.mit.edu	37	10	98708959	98708959	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98708959C>G	uc009xvg.1	+	c.145C>G	c.(145-147)CAG>GAG	p.Q49E	LCOR_uc001kmr.2_Missense_Mutation_p.Q49E|LCOR_uc001kms.1_Missense_Mutation_p.Q49E|LCOR_uc001kmt.1_Missense_Mutation_p.Q49E|LCOR_uc001kmu.1_Missense_Mutation_p.Q49E	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	1144											0		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)										0.054687	-11.782814	14.959386	7	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98708959	98708959	1624	10	C	G	G	G	377	29	C10orf12	3	3
SFRP5	6425	broad.mit.edu	37	10	99531239	99531239	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99531239C>T	uc001kor.3	-	c.352G>A	c.(352-354)GAC>AAC	p.D118N		NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5 precursor	118	FZ.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)										0.105263	3.077051	8.958646	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99531239	99531239	14653	10	C	T	T	T	403	31	SFRP5	1	1
CUL5	8065	broad.mit.edu	37	11	107917073	107917073	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107917073G>C	uc001pjv.2	+	c.211G>C	c.(211-213)GAG>CAG	p.E71Q	CUL5_uc001pju.2_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	71					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)										0.116667	11.295544	19.956381	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107917073	107917073	4219	11	G	C	C	C	585	45	CUL5	3	3
NPAT	4863	broad.mit.edu	37	11	108059910	108059910	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108059910G>T	uc001pjz.3	-	c.479C>A	c.(478-480)CCA>CAA	p.P160Q	NPAT_uc001pka.2_5'UTR	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	160	Interaction with MIZF.				regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)						345				0.076923	-1.077746	10.83486	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108059910	108059910	10970	11	G	T	T	T	611	47	NPAT	2	2
EXPH5	23086	broad.mit.edu	37	11	108380971	108380971	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108380971G>A	uc001pkk.2	-	c.5263C>T	c.(5263-5265)CCT>TCT	p.P1755S	EXPH5_uc010rvy.1_Missense_Mutation_p.P1567S|EXPH5_uc010rvz.1_Missense_Mutation_p.P1599S|EXPH5_uc010rwa.1_Missense_Mutation_p.P1679S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1755					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.168675	27.64246	36.23513	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108380971	108380971	5516	11	G	A	A	A	533	41	EXPH5	2	2
SIK2	23235	broad.mit.edu	37	11	111575717	111575717	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111575717C>T	uc001plt.2	+	c.955C>T	c.(955-957)CAG>TAG	p.Q319*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	319	UBA.				intracellular protein kinase cascade|protein phosphorylation|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)	2										204				0.115702	12.861033	30.463293	14	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111575717	111575717	14813	11	C	T	T	T	325	25	SIK2	5	2
PPP2R1B	5519	broad.mit.edu	37	11	111626023	111626023	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111626023G>A	uc001plw.1	-	c.839C>T	c.(838-840)TCA>TTA	p.S280L	PPP2R1B_uc010rwi.1_Missense_Mutation_p.S216L|PPP2R1B_uc001plx.1_Missense_Mutation_p.S280L|PPP2R1B_uc010rwj.1_Missense_Mutation_p.S119L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.S280L|PPP2R1B_uc010rwl.1_Missense_Mutation_p.S153L	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	280	HEAT 7.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)										0.175	13.099696	17.086128	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111626023	111626023	12819	11	G	A	A	A	585	45	PPP2R1B	2	2
USP28	57646	broad.mit.edu	37	11	113679905	113679905	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113679905G>A	uc001poh.2	-	c.2044C>T	c.(2044-2046)CAG>TAG	p.Q682*	USP28_uc001pog.2_Nonsense_Mutation_p.Q390*|USP28_uc010rwy.1_Nonsense_Mutation_p.Q557*|USP28_uc001poi.2_Nonsense_Mutation_p.Q37*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	682					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)	5		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)								0.083893	0.824129	53.276452	25	273	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113679905	113679905	17622	11	G	A	A	A	585	45	USP28	5	2
VPS11	55823	broad.mit.edu	37	11	118939979	118939979	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118939979G>T	uc010ryx.1	+	c.261G>T	c.(259-261)GTG>GTT	p.V87V	VPS11_uc010ryy.1_5'UTR	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	87					protein transport	cytoplasmic membrane-bounded vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)										0.060976	-8.922477	7.764962	5	77	KEEP	---	---	---	---	capture		Silent	SNP	118939979	118939979	17755	11	G	T	T	T	581	45	VPS11	2	2
ABCG4	64137	broad.mit.edu	37	11	119020680	119020680	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119020680C>A	uc001pvs.2	+	c.5C>A	c.(4-6)GCG>GAG	p.A2E	ABCG4_uc009zar.2_Missense_Mutation_p.A2E	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	2	Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.37931	27.914382	28.286033	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119020680	119020680	71	11	C	A	A	A	351	27	ABCG4	1	1
MICAL2	9645	broad.mit.edu	37	11	12261023	12261023	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12261023A>T	uc001mjz.2	+	c.2105A>T	c.(2104-2106)GAG>GTG	p.E702V	MICAL2_uc010rch.1_Missense_Mutation_p.E702V|MICAL2_uc001mka.2_Missense_Mutation_p.E702V|MICAL2_uc010rci.1_Missense_Mutation_p.E702V|MICAL2_uc001mkb.2_Missense_Mutation_p.E702V|MICAL2_uc001mkc.2_Missense_Mutation_p.E702V|MICAL2_uc001mkd.2_Missense_Mutation_p.E531V|MICAL2_uc010rcj.1_Missense_Mutation_p.E104V|MICAL2_uc001mkf.2_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	702					oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0				Epithelial(150;0.00552)										0.108108	3.375736	9.007558	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12261023	12261023	9960	11	A	T	T	T	143	11	MICAL2	3	3
HSPA8	3312	broad.mit.edu	37	11	122931384	122931384	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122931384C>T	uc001pyo.2	-	c.328G>A	c.(328-330)GAG>AAG	p.E110K	HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.E110K|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Missense_Mutation_p.E110K|HSPA8_uc010rzv.1_Missense_Mutation_p.E110K	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	110					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding|transcription repressor activity			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		Colon(21;486 594 5900 6733 14272)								0.113208	6.91894	14.737182	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122931384	122931384	7715	11	C	T	T	T	416	32	HSPA8	2	2
OR8D4	338662	broad.mit.edu	37	11	123777582	123777582	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123777582C>A	uc010saa.1	+	c.444C>A	c.(442-444)GTC>GTA	p.V148V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)										0.147727	17.939131	28.414096	13	75	KEEP	---	---	---	---	capture		Silent	SNP	123777582	123777582	11644	11	C	A	A	A	405	32	OR8D4	2	2
OR8B2	26595	broad.mit.edu	37	11	124252847	124252847	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124252847C>G	uc010sai.1	-	c.393G>C	c.(391-393)CTG>CTC	p.L131L		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.147059	20.703976	28.841064	10	58	KEEP	---	---	---	---	capture		Silent	SNP	124252847	124252847	11638	11	C	G	G	G	210	17	OR8B2	3	3
OR8B12	219858	broad.mit.edu	37	11	124412862	124412862	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124412862G>A	uc010sam.1	-	c.689C>T	c.(688-690)ACA>ATA	p.T230I		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)										0.358491	53.110654	54.045068	19	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124412862	124412862	11637	11	G	A	A	A	624	48	OR8B12	2	2
PANX3	116337	broad.mit.edu	37	11	124489751	124489751	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124489751G>C	uc001qah.2	+	c.1099G>C	c.(1099-1101)GAT>CAT	p.D367H	TBRG1_uc001qak.3_5'Flank|TBRG1_uc001qaj.3_5'Flank|TBRG1_uc001qal.3_5'Flank|TBRG1_uc001qam.3_5'Flank|TBRG1_uc009zbf.2_5'Flank|TBRG1_uc009zbg.2_5'Flank	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	367	Cytoplasmic (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)										0.123077	13.053519	22.089065	8	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124489751	124489751	11839	11	G	C	C	C	585	45	PANX3	3	3
ROBO4	54538	broad.mit.edu	37	11	124761245	124761245	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124761245G>A	uc001qbg.2	-	c.1898C>T	c.(1897-1899)CCC>CTC	p.P633L	ROBO4_uc010sas.1_Missense_Mutation_p.P488L|ROBO4_uc001qbh.2_Missense_Mutation_p.P523L|ROBO4_uc001qbi.2_Missense_Mutation_p.P191L|ROBO4_uc010sat.1_Missense_Mutation_p.P191L	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	633					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)										0.166667	8.087587	10.613726	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124761245	124761245	13995	11	G	A	A	A	559	43	ROBO4	2	2
HEPACAM	220296	broad.mit.edu	37	11	124805828	124805828	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124805828C>T	uc001qbk.2	-	c.75G>A	c.(73-75)CTG>CTA	p.L25L	HEPACAM_uc001qbl.1_Silent_p.L25L	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	25					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)										0.147059	8.151322	12.221398	5	29	KEEP	---	---	---	---	capture		Silent	SNP	124805828	124805828	7335	11	C	T	T	T	366	29	HEPACAM	2	2
NFRKB	4798	broad.mit.edu	37	11	129739494	129739494	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129739494T>C	uc001qfg.2	-	c.3501A>G	c.(3499-3501)GTA>GTG	p.V1167V	NFRKB_uc001qfi.2_Silent_p.V1142V|NFRKB_uc001qfh.2_Silent_p.V1165V|NFRKB_uc010sbw.1_Silent_p.V1152V|NFRKB_uc009zcr.2_Silent_p.V428V	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1142					inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)										0.092593	7.266645	25.30959	10	98	KEEP	---	---	---	---	capture		Silent	SNP	129739494	129739494	10784	11	T	C	C	C	678	53	NFRKB	4	4
NFRKB	4798	broad.mit.edu	37	11	129743800	129743800	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129743800G>C	uc001qfg.2	-	c.2465C>G	c.(2464-2466)TCT>TGT	p.S822C	NFRKB_uc001qfi.2_Missense_Mutation_p.S797C|NFRKB_uc001qfh.2_Missense_Mutation_p.S820C|NFRKB_uc010sbw.1_Missense_Mutation_p.S807C|NFRKB_uc009zcr.2_Missense_Mutation_p.S83C	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	797	Ser-rich.				inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)										0.458333	35.72241	35.758717	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129743800	129743800	10784	11	G	C	C	C	429	33	NFRKB	3	3
SPON1	10418	broad.mit.edu	37	11	14278235	14278235	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14278235G>A	uc001mle.2	+	c.1306G>A	c.(1306-1308)GAA>AAA	p.E436K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	436					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)										0.173077	17.64275	22.891571	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14278235	14278235	15595	11	G	A	A	A	585	45	SPON1	2	2
PLEKHA7	144100	broad.mit.edu	37	11	16838533	16838533	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16838533C>A	uc010rcu.1	-	c.1680G>T	c.(1678-1680)GTG>GTT	p.V560V	PLEKHA7_uc001mmo.2_Silent_p.V560V|PLEKHA7_uc010rcv.1_Silent_p.V134V|PLEKHA7_uc001mmn.2_Silent_p.V268V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	560	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.245614	31.723913	35.084462	14	43	KEEP	---	---	---	---	capture		Silent	SNP	16838533	16838533	12487	11	C	A	A	A	314	25	PLEKHA7	2	2
ABCC8	6833	broad.mit.edu	37	11	17432168	17432168	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17432168C>G	uc001mnc.2	-	c.2589G>C	c.(2587-2589)CTG>CTC	p.L863L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	863	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.159292	35.595287	48.078999	18	95	KEEP	---	---	---	---	capture		Silent	SNP	17432168	17432168	59	11	C	G	G	G	366	29	ABCC8	3	3
SLC6A5	9152	broad.mit.edu	37	11	20658768	20658768	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20658768G>C	uc001mqd.2	+	c.1788G>C	c.(1786-1788)AAG>AAC	p.K596N	SLC6A5_uc009yic.2_Missense_Mutation_p.K361N	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	596					synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.189655	24.894037	30.116435	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20658768	20658768	15184	11	G	C	C	C	464	36	SLC6A5	3	3
KCNA4	3739	broad.mit.edu	37	11	30033300	30033300	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30033300A>C	uc001msk.2	-	c.926T>G	c.(925-927)ATA>AGA	p.I309R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	309	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.119718	26.683801	46.823184	17	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30033300	30033300	8310	11	A	C	C	C	208	16	KCNA4	4	4
ALX4	60529	broad.mit.edu	37	11	44296906	44296906	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44296906G>T	uc001myb.2	-	c.769C>A	c.(769-771)CGC>AGC	p.R257S		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	257	Homeobox.				hair follicle development		transcription regulator activity				0														0.202532	36.326202	42.767472	16	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44296906	44296906	561	11	G	T	T	T	507	39	ALX4	1	1
OR51E1	143503	broad.mit.edu	37	11	4673879	4673879	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4673879T>A	uc001lzi.3	+	c.123T>A	c.(121-123)GCT>GCA	p.A41A		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	40	Helical; Name=1; (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)										0.205776	134.334839	156.564223	57	220	KEEP	---	---	---	---	capture		Silent	SNP	4673879	4673879	11504	11	T	A	A	A	704	55	OR51E1	3	3
OR51G1	79324	broad.mit.edu	37	11	4944805	4944805	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4944805G>T	uc010qyr.1	-	c.765C>A	c.(763-765)ATC>ATA	p.I255I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.318182	34.135849	35.42817	14	30	KEEP	---	---	---	---	capture		Silent	SNP	4944805	4944805	11508	11	G	T	T	T	525	41	OR51G1	2	2
OR51B2	79345	broad.mit.edu	37	11	5344955	5344955	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5344955A>T	uc001mao.1	-	c.573T>A	c.(571-573)ACT>ACA	p.T191T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.090909	1.866845	9.289691	4	40	KEEP	---	---	---	---	capture		Silent	SNP	5344955	5344955	11499	11	A	T	T	T	28	3	OR51B2	3	3
UBQLN3	50613	broad.mit.edu	37	11	5530649	5530649	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5530649T>A	uc001may.1	-	c.140A>T	c.(139-141)AAG>ATG	p.K47M	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	47	Ubiquitin-like.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.112676	8.047065	18.565032	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5530649	5530649	17456	11	T	A	A	A	728	56	UBQLN3	3	3
OR4C11	219429	broad.mit.edu	37	11	55371693	55371693	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55371693G>T	uc010rii.1	-	c.157C>A	c.(157-159)CTA>ATA	p.L53I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.195652	39.497418	47.441366	18	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55371693	55371693	11451	11	G	T	T	T	464	36	OR4C11	2	2
OR9Q2	219957	broad.mit.edu	37	11	57958805	57958805	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57958805G>A	uc010rka.1	+	c.843G>A	c.(841-843)GTG>GTA	p.V281V		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)												0.112	12.789294	31.356409	14	111	KEEP	---	---	---	---	capture		Silent	SNP	57958805	57958805	11667	11	G	A	A	A	574	45	OR9Q2	2	2
OR1S1	219959	broad.mit.edu	37	11	57982425	57982425	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57982425C>A	uc010rkc.1	+	c.209C>A	c.(208-210)ACC>AAC	p.T70N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	70	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.368056	140.279099	142.464615	53	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57982425	57982425	11378	11	C	A	A	A	234	18	OR1S1	2	2
OR5B2	390190	broad.mit.edu	37	11	58190687	58190687	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58190687G>T	uc010rkg.1	-	c.48C>A	c.(46-48)ACC>ACA	p.T16T		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	16	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)												0.161572	67.8223	92.801384	37	192	KEEP	---	---	---	---	capture		Silent	SNP	58190687	58190687	11560	11	G	T	T	T	600	47	OR5B2	2	2
OR56A1	120796	broad.mit.edu	37	11	6048134	6048134	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6048134C>G	uc010qzw.1	-	c.801G>C	c.(799-801)TTG>TTC	p.L267F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.212766	49.158895	56.319975	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6048134	6048134	11543	11	C	G	G	G	376	29	OR56A1	3	3
VPS37C	55048	broad.mit.edu	37	11	60901509	60901509	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60901509C>A	uc001nqv.1	-	c.264G>T	c.(262-264)CTG>CTT	p.L88L	VPS37C_uc001nqw.1_Silent_p.L88L	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	88	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0														0.436364	71.594062	71.787568	24	31	KEEP	---	---	---	---	capture		Silent	SNP	60901509	60901509	17774	11	C	A	A	A	262	21	VPS37C	2	2
CCKBR	887	broad.mit.edu	37	11	6292377	6292377	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6292377C>T	uc001mcs.2	+	c.1155C>T	c.(1153-1155)TCC>TCT	p.S385S	CCKBR_uc001mcp.2_Silent_p.S316S|CCKBR_uc001mcq.2_Silent_p.S244S|CCKBR_uc001mcr.2_Silent_p.S316S|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	316	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)									0.114286	4.687173	9.809859	4	31	KEEP	---	---	---	---	capture		Silent	SNP	6292377	6292377	3006	11	C	T	T	T	288	23	CCKBR	1	1
SLC22A12	116085	broad.mit.edu	37	11	64359264	64359264	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64359264C>A	uc001oam.1	+	c.236C>A	c.(235-237)CCG>CAG	p.P79Q	SLC22A12_uc009ypr.1_Missense_Mutation_p.P79Q|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.P79Q|SLC22A12_uc001oan.1_Missense_Mutation_p.P79Q|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	79					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1														0.2	6.916998	8.172115	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64359264	64359264	14939	11	C	A	A	A	299	23	SLC22A12	1	1
HPX	3263	broad.mit.edu	37	11	6461729	6461729	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6461729A>T	uc001mdg.2	-	c.182T>A	c.(181-183)CTG>CAG	p.L61Q	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.L61Q	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	61	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)										0.217778	113.239214	129.787694	49	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6461729	6461729	7638	11	A	T	T	T	91	7	HPX	3	3
CDCA5	113130	broad.mit.edu	37	11	64846930	64846930	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64846930G>A	uc001ocp.2	-	c.573C>T	c.(571-573)GTC>GTT	p.V191V		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	191					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding				0														0.178571	16.821595	22.269193	10	46	KEEP	---	---	---	---	capture		Silent	SNP	64846930	64846930	3218	11	G	A	A	A	522	41	CDCA5	2	2
TIGD3	220359	broad.mit.edu	37	11	65123348	65123348	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65123348C>G	uc001odo.3	+	c.69C>G	c.(67-69)CTC>CTG	p.L23L		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	23	HTH psq-type.					chromosome, centromeric region|nucleus	DNA binding				0														0.083333	0.804966	7.149255	3	33	KEEP	---	---	---	---	capture		Silent	SNP	65123348	65123348	16426	11	C	G	G	G	379	30	TIGD3	3	3
TSGA10IP	254187	broad.mit.edu	37	11	65714762	65714762	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65714762G>C	uc001ogk.1	+	c.466G>C	c.(466-468)GAG>CAG	p.E156Q	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	156											0														0.25	19.110958	20.702222	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65714762	65714762	17169	11	G	C	C	C	429	33	TSGA10IP	3	3
TSGA10IP	254187	broad.mit.edu	37	11	65721175	65721175	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65721175C>T	uc001ogk.1	+	c.1289C>T	c.(1288-1290)CCT>CTT	p.P430L	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	430	Potential.										0														0.5	9.22509	9.22509	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65721175	65721175	17169	11	C	T	T	T	312	24	TSGA10IP	2	2
PC	5091	broad.mit.edu	37	11	66620061	66620061	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66620061C>T	uc001ojn.1	-	c.1674G>A	c.(1672-1674)CGG>CGA	p.R558R	PC_uc001ojo.1_Silent_p.R558R|PC_uc001ojp.1_Silent_p.R558R|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	558					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)									0.12	3.111195	6.650648	3	22	KEEP	---	---	---	---	capture		Silent	SNP	66620061	66620061	11917	11	C	T	T	T	379	30	PC	2	2
SHANK2	22941	broad.mit.edu	37	11	70319093	70319093	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70319093C>T	uc001oqc.2	-	c.5431G>A	c.(5431-5433)GAG>AAG	p.E1811K	SHANK2_uc010rqn.1_Missense_Mutation_p.E1223K|SHANK2_uc001opz.2_Missense_Mutation_p.E1216K|SHANK2_uc001opy.2_Missense_Mutation_p.E147K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1432	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.112903	5.876847	15.053136	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70319093	70319093	14757	11	C	T	T	T	377	29	SHANK2	2	2
ARAP1	116985	broad.mit.edu	37	11	72406623	72406623	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72406623C>T	uc001osu.2	-	c.3471G>A	c.(3469-3471)GTG>GTA	p.V1157V	ARAP1_uc001osv.2_Silent_p.V1157V|ARAP1_uc001osr.2_Silent_p.V917V|ARAP1_uc001oss.2_Silent_p.V912V|ARAP1_uc009yth.2_Silent_p.V851V|ARAP1_uc010rre.1_Silent_p.V912V	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1157					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding				0						Ovarian(102;1198 1520 13195 17913 37529)								0.114286	3.57328	8.709304	4	31	KEEP	---	---	---	---	capture		Silent	SNP	72406623	72406623	849	11	C	T	T	T	366	29	ARAP1	2	2
ARHGEF17	9828	broad.mit.edu	37	11	73022472	73022472	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73022472G>A	uc001otu.2	+	c.2789G>A	c.(2788-2790)AGT>AAT	p.S930N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	930					actin cytoskeleton organization|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				0														0.541667	40.769708	40.805419	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73022472	73022472	914	11	G	A	A	A	468	36	ARHGEF17	2	2
INTS4	92105	broad.mit.edu	37	11	77635798	77635798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77635798C>T	uc001oys.2	-	c.1512G>A	c.(1510-1512)TGG>TGA	p.W504*	INTS4_uc001oyt.2_Non-coding_Transcript|INTS4_uc001oyu.1_Nonsense_Mutation_p.W504*	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	504					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)											0.180556	25.032307	31.940674	13	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77635798	77635798	8081	11	C	T	T	T	390	30	INTS4	5	2
CCDC89	220388	broad.mit.edu	37	11	85396455	85396455	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85396455T>A	uc001pau.1	-	c.719A>T	c.(718-720)CAC>CTC	p.H240L		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	240	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)												0.355556	44.482119	45.311406	16	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85396455	85396455	2991	11	T	A	A	A	767	59	CCDC89	3	3
GRM5	2915	broad.mit.edu	37	11	88330367	88330367	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88330367C>G	uc001pcq.2	-	c.1548G>C	c.(1546-1548)GAG>GAC	p.E516D	GRM5_uc009yvm.2_Missense_Mutation_p.E516D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	516	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.136364	10.619668	16.252945	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88330367	88330367	7079	11	C	G	G	G	415	32	GRM5	3	3
TYR	7299	broad.mit.edu	37	11	88924377	88924377	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88924377G>T	uc001pcs.2	+	c.827G>T	c.(826-828)TGT>TTT	p.C276F		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	276	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|oxidation-reduction process|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									0.202899	30.407692	36.071293	14	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88924377	88924377	17370	11	G	T	T	T	624	48	TYR	2	2
FAT3	120114	broad.mit.edu	37	11	92085740	92085740	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085740G>A	uc001pdj.3	+	c.462G>A	c.(460-462)CTG>CTA	p.L154L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	154	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.147059	15.404932	23.545053	10	58	KEEP	---	---	---	---	capture		Silent	SNP	92085740	92085740	5927	11	G	A	A	A	574	45	FAT3	2	2
MED17	9440	broad.mit.edu	37	11	93528077	93528077	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93528077C>T	uc001pem.3	+	c.863C>T	c.(862-864)TCC>TTC	p.S288F		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	288					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.16129	9.660229	13.039723	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93528077	93528077	9824	11	C	T	T	T	390	30	MED17	2	2
MRE11A	4361	broad.mit.edu	37	11	94204877	94204877	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94204877G>C	uc001peu.2	-	c.708C>G	c.(706-708)GAC>GAG	p.D236E	MRE11A_uc001pev.2_Missense_Mutation_p.D236E|MRE11A_uc009ywj.2_Missense_Mutation_p.D239E	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	236					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.219512	23.85274	26.823674	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94204877	94204877	10151	11	G	C	C	C	464	36	MRE11A	3	3
MYBPC1	4604	broad.mit.edu	37	12	102046895	102046895	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102046895C>A	uc010svs.1	+	c.1561C>A	c.(1561-1563)CCT>ACT	p.P521T	MYBPC1_uc001tig.2_Missense_Mutation_p.P546T|MYBPC1_uc010svq.1_Missense_Mutation_p.P508T|MYBPC1_uc001tih.2_Missense_Mutation_p.P546T|MYBPC1_uc001tii.2_Missense_Mutation_p.P521T|MYBPC1_uc001tij.2_Missense_Mutation_p.P521T|MYBPC1_uc010svr.1_Missense_Mutation_p.P521T|MYBPC1_uc010svt.1_Missense_Mutation_p.P509T|MYBPC1_uc010svu.1_Missense_Mutation_p.P502T|MYBPC1_uc001tik.2_Missense_Mutation_p.P495T	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	521					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.072727	-2.139411	8.188108	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102046895	102046895	10406	12	C	A	A	A	390	30	MYBPC1	2	2
MTERFD3	80298	broad.mit.edu	37	12	107371701	107371701	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107371701C>T	uc001tme.1	-	c.792G>A	c.(790-792)CAG>CAA	p.Q264Q	MTERFD3_uc001tmf.1_Silent_p.Q264Q|MTERFD3_uc001tmg.1_Silent_p.Q264Q|MTERFD3_uc001tmh.1_Silent_p.Q264Q	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	promoter binding|transcription regulator activity				0														0.075949	-0.516279	14.045227	6	73	KEEP	---	---	---	---	capture		Silent	SNP	107371701	107371701	10314	12	C	T	T	T	415	32	MTERFD3	2	2
MTERFD3	80298	broad.mit.edu	37	12	107372117	107372117	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107372117C>T	uc001tme.1	-	c.376G>A	c.(376-378)GAG>AAG	p.E126K	MTERFD3_uc001tmf.1_Missense_Mutation_p.E126K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E126K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E126K	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	transcription termination factor-like protein	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	promoter binding|transcription regulator activity				0														0.119318	25.650711	50.687645	21	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107372117	107372117	10314	12	C	T	T	T	377	29	MTERFD3	2	2
BTBD11	121551	broad.mit.edu	37	12	108051342	108051342	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108051342G>A	uc001tmk.1	+	c.3162G>A	c.(3160-3162)ATG>ATA	p.M1054I	BTBD11_uc001tml.1_Missense_Mutation_p.M591I|BTBD11_uc001tmm.1_Missense_Mutation_p.M133I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	1054						integral to membrane	DNA binding			ovary(1)	1														0.096154	2.333271	10.840876	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108051342	108051342	1571	12	G	A	A	A	585	45	BTBD11	2	2
USP30	84749	broad.mit.edu	37	12	109494575	109494575	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109494575G>C	uc010sxi.1	+	c.172G>C	c.(172-174)GAA>CAA	p.E58Q	USP30_uc001tnu.3_Missense_Mutation_p.E27Q	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	58	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity				0														0.168421	35.73854	45.632207	16	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109494575	109494575	17625	12	G	C	C	C	429	33	USP30	3	3
ACACB	32	broad.mit.edu	37	12	109654629	109654629	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109654629C>T	uc001tob.2	+	c.3468C>T	c.(3466-3468)CTC>CTT	p.L1156L	ACACB_uc001toc.2_Silent_p.L1156L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1156					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|pancreas(1)	6					Biotin(DB00121)					1843				0.16	12.966873	18.474933	8	42	KEEP	---	---	---	---	capture		Silent	SNP	109654629	109654629	108	12	C	T	T	T	366	29	ACACB	2	2
MYO1H	283446	broad.mit.edu	37	12	109847873	109847873	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109847873G>T	uc010sxn.1	+	c.1281G>T	c.(1279-1281)GAG>GAT	p.E427D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.176471	6.576977	8.205549	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109847873	109847873	10470	12	G	T	T	T	451	35	MYO1H	2	2
MYO1H	283446	broad.mit.edu	37	12	109865318	109865318	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109865318G>T	uc010sxn.1	+	c.1828G>T	c.(1828-1830)GGG>TGG	p.G610W		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.204969	72.490958	85.487744	33	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109865318	109865318	10470	12	G	T	T	T	559	43	MYO1H	2	2
ANKRD13A	88455	broad.mit.edu	37	12	110467403	110467403	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110467403C>G	uc001tpx.2	+	c.1197C>G	c.(1195-1197)ATC>ATG	p.I399M	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc010sxw.1_Missense_Mutation_p.I398M|ANKRD13A_uc001tpy.2_Missense_Mutation_p.I37M|ANKRD13A_uc001tpz.2_Missense_Mutation_p.I37M|ANKRD13A_uc001tqa.2_Missense_Mutation_p.I37M	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	399											0														0.134615	12.388463	19.120059	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110467403	110467403	644	12	C	G	G	G	369	29	ANKRD13A	3	3
RPL6	6128	broad.mit.edu	37	12	112844583	112844583	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112844583G>C	uc001ttu.2	-	c.448C>G	c.(448-450)CTG>GTG	p.L150V	RPL6_uc001ttv.2_Missense_Mutation_p.L150V	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	ribosomal protein L6	150					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			large_intestine(1)	1														0.166667	10.855764	14.016105	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112844583	112844583	14077	12	G	C	C	C	425	33	RPL6	3	3
TPCN1	53373	broad.mit.edu	37	12	113716636	113716636	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113716636C>G	uc001tux.2	+	c.1509C>G	c.(1507-1509)TTC>TTG	p.F503L	TPCN1_uc001tuw.2_Missense_Mutation_p.F431L|TPCN1_uc010syt.1_Missense_Mutation_p.F363L	NM_001143819	NP_001137291	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 1	431	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.142857	8.281012	11.721988	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113716636	113716636	16939	12	C	G	G	G	376	29	TPCN1	3	3
RBM19	9904	broad.mit.edu	37	12	114364967	114364967	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114364967C>T	uc009zwi.2	-	c.2136G>A	c.(2134-2136)AAG>AAA	p.K712K	RBM19_uc001tvn.3_Silent_p.K712K|RBM19_uc001tvm.2_Silent_p.K712K	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	712					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.272727	8.019859	8.532192	3	8	KEEP	---	---	---	---	capture		Silent	SNP	114364967	114364967	13582	12	C	T	T	T	415	32	RBM19	2	2
GPR109A	338442	broad.mit.edu	37	12	123186985	123186985	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123186985G>T	uc001ucx.1	-	c.846C>A	c.(844-846)TTC>TTA	p.F282L	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	G109A_HUMAN	G protein-coupled receptor 109A	282	Helical; Name=7; (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)									0.083333	0.39633	6.748917	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123186985	123186985	6899	12	G	T	T	T	581	45	GPR109A	2	2
TMEM132D	121256	broad.mit.edu	37	12	129563096	129563096	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129563096G>T	uc009zyl.1	-	c.2098C>A	c.(2098-2100)CTG>ATG	p.L700M	TMEM132D_uc001uia.2_Missense_Mutation_p.L238M	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	700	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.050505	-11.310078	9.893956	5	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129563096	129563096	16579	12	G	T	T	T	425	33	TMEM132D	2	2
TMEM132D	121256	broad.mit.edu	37	12	129694113	129694113	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129694113C>A	uc009zyl.1	-	c.1395G>T	c.(1393-1395)GAG>GAT	p.E465D		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	465	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.135593	11.468233	19.052512	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129694113	129694113	16579	12	C	A	A	A	363	28	TMEM132D	2	2
SFRS8	6433	broad.mit.edu	37	12	132262741	132262741	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132262741G>C	uc010tbn.1	+	c.2274G>C	c.(2272-2274)AAG>AAC	p.K758N	SFRS8_uc001uja.1_Missense_Mutation_p.K758N|SFRS8_uc001ujb.1_Missense_Mutation_p.K551N	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	758	Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)										0.081081	0.494311	7.11128	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132262741	132262741	14673	12	G	C	C	C	425	33	SFRS8	3	3
GOLGA3	2802	broad.mit.edu	37	12	133357422	133357422	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133357422C>G	uc001ukz.1	-	c.3544G>C	c.(3544-3546)GAG>CAG	p.E1182Q	GOLGA3_uc001ula.1_Missense_Mutation_p.E1182Q	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1182	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.153846	22.953522	31.885886	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133357422	133357422	6823	12	C	G	G	G	416	32	GOLGA3	3	3
C12orf36	283422	broad.mit.edu	37	12	13526177	13526177	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:13526177C>G	uc001rbs.1	-	c.378G>C	c.(376-378)GTG>GTC	p.V126V		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)										0.101562	13.310938	33.550025	13	115	KEEP	---	---	---	---	capture		Silent	SNP	13526177	13526177	1727	12	C	G	G	G	366	29	C12orf36	3	3
PTPRO	5800	broad.mit.edu	37	12	15704555	15704555	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15704555G>T	uc001rcv.1	+	c.2508G>T	c.(2506-2508)CTG>CTT	p.L836L	PTPRO_uc001rcw.1_Silent_p.L836L|PTPRO_uc001rcx.1_Silent_p.L25L|PTPRO_uc001rcy.1_Silent_p.L25L|PTPRO_uc001rcz.1_Silent_p.L25L|PTPRO_uc001rda.1_Silent_p.L25L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	836	Helical; (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.519231	173.744421	173.777495	54	50	KEEP	---	---	---	---	capture		Silent	SNP	15704555	15704555	13266	12	G	T	T	T	613	48	PTPRO	2	2
PIK3C2G	5288	broad.mit.edu	37	12	18641506	18641506	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18641506C>G	uc010sib.1	+	c.2628C>G	c.(2626-2628)ATC>ATG	p.I876M	PIK3C2G_uc001rdt.2_Missense_Mutation_p.I835M|PIK3C2G_uc010sia.1_Non-coding_Transcript|PIK3C2G_uc010sic.1_Missense_Mutation_p.I654M	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	835					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.157895	13.238345	17.468004	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18641506	18641506	12335	12	C	G	G	G	369	29	PIK3C2G	3	3
PLEKHA5	54477	broad.mit.edu	37	12	19496260	19496260	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:19496260G>A	uc010sie.1	+	c.2554G>A	c.(2554-2556)GAA>AAA	p.E852K	PLEKHA5_uc001rea.2_Missense_Mutation_p.E807K|PLEKHA5_uc001reb.2_Missense_Mutation_p.E749K|PLEKHA5_uc009zin.2_Missense_Mutation_p.E507K|PLEKHA5_uc010sif.1_Missense_Mutation_p.E680K|PLEKHA5_uc010sig.1_Missense_Mutation_p.E668K|PLEKHA5_uc010sih.1_Missense_Mutation_p.E641K|PLEKHA5_uc001rec.1_Missense_Mutation_p.E495K|PLEKHA5_uc009zio.2_Missense_Mutation_p.E71K	NM_001143821	NP_001137293	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	749							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					Pancreas(196;329 2193 11246 14234 19524)				873				0.153846	6.681305	9.662265	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19496260	19496260	12485	12	G	A	A	A	533	41	PLEKHA5	2	2
LST-3TM12	338821	broad.mit.edu	37	12	21207494	21207494	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21207494G>A	uc010sim.1	+	c.1606G>A	c.(1606-1608)GTT>ATT	p.V536I	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sin.1_Missense_Mutation_p.V489I	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	489						membrane	transporter activity				0														0.102564	2.179771	8.313588	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21207494	21207494	9442	12	G	A	A	A	520	40	LST-3TM12	1	1
SLCO1A2	6579	broad.mit.edu	37	12	21471738	21471738	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21471738G>T	uc001rer.2	-	c.180C>A	c.(178-180)TTC>TTA	p.F60L	SLCO1A2_uc001res.2_Missense_Mutation_p.F60L|SLCO1A2_uc010siq.1_5'UTR|SLCO1A2_uc010sio.1_5'UTR|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.F58L|SLCO1A2_uc001reu.2_Missense_Mutation_p.F40L	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	60	Helical; Name=2; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.474359	113.267455	113.312246	37	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21471738	21471738	15219	12	G	T	T	T	581	45	SLCO1A2	2	2
ABCC9	10060	broad.mit.edu	37	12	22069878	22069878	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22069878C>T	uc001rfh.2	-	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	ABCC9_uc001rfi.1_Missense_Mutation_p.R189Q|ABCC9_uc001rfj.1_Missense_Mutation_p.R189Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	189	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)									0.078512	-1.547185	42.367883	19	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22069878	22069878	60	12	C	T	T	T	403	31	ABCC9	1	1
IPO8	10526	broad.mit.edu	37	12	30787166	30787166	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30787166G>C	uc001rjd.2	-	c.2750C>G	c.(2749-2751)TCA>TGA	p.S917*	IPO8_uc001rje.1_Nonsense_Mutation_p.S406*|IPO8_uc010sjt.1_Nonsense_Mutation_p.S712*	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	917					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.085714	3.993288	16.17194	6	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30787166	30787166	8099	12	G	C	C	C	585	45	IPO8	5	3
BICD1	636	broad.mit.edu	37	12	32458939	32458939	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32458939G>C	uc001rku.2	+	c.888G>C	c.(886-888)CTG>CTC	p.L296L	BICD1_uc001rkv.2_Silent_p.L296L|BICD1_uc010skd.1_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	296					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)	1	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)											0.081633	1.664963	10.393478	4	45	KEEP	---	---	---	---	capture		Silent	SNP	32458939	32458939	1453	12	G	C	C	C	574	45	BICD1	3	3
PRMT8	56341	broad.mit.edu	37	12	3659145	3659145	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3659145C>G	uc001qmf.2	+	c.305C>G	c.(304-306)TCC>TGC	p.S102C	PRMT8_uc009zed.2_Missense_Mutation_p.S93C|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	102					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)											0.104478	15.495769	36.306252	14	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3659145	3659145	12985	12	C	G	G	G	390	30	PRMT8	3	3
EFCAB4B	84766	broad.mit.edu	37	12	3763384	3763384	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3763384T>C	uc010sen.1	-	c.1040A>G	c.(1039-1041)AAG>AGG	p.K347R	EFCAB4B_uc010seo.1_Missense_Mutation_p.K347R|EFCAB4B_uc001qmj.2_Missense_Mutation_p.K347R|EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform a	347	Potential.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)											0.077922	1.594268	15.613903	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3763384	3763384	5124	12	T	C	C	C	728	56	EFCAB4B	4	4
SLC2A13	114134	broad.mit.edu	37	12	40422292	40422292	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40422292C>T	uc010skm.1	-	c.736G>A	c.(736-738)GCA>ACA	p.A246T	SLC2A13_uc001rmf.2_Missense_Mutation_p.A246T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	246	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)												0.084211	2.927786	19.600656	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40422292	40422292	15039	12	C	T	T	T	364	28	SLC2A13	2	2
KDM5A	5927	broad.mit.edu	37	12	406210	406210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:406210G>A	uc001qif.1	-	c.4231C>T	c.(4231-4233)CAA>TAA	p.Q1411*	KDM5A_uc001qie.1_Nonsense_Mutation_p.Q1411*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1411				Q -> QVFFGK (in Ref. 1; AAB28544).	chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.076923	-1.67373	10.237395	5	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	406210	406210	8439	12	G	A	A	A	585	45	KDM5A	5	2
SFRS2IP	9169	broad.mit.edu	37	12	46320468	46320468	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46320468C>T	uc001rox.2	-	c.3016G>A	c.(3016-3018)GAT>AAT	p.D1006N	SFRS2IP_uc001row.2_Missense_Mutation_p.D691N|SFRS2IP_uc001roy.1_Missense_Mutation_p.D1080N	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1006					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)										0.378505	244.718559	247.492054	81	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46320468	46320468	14667	12	C	T	T	T	416	32	SFRS2IP	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46320470	46320470	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46320470A>G	uc001rox.2	-	c.3014T>C	c.(3013-3015)CTA>CCA	p.L1005P	SFRS2IP_uc001row.2_Missense_Mutation_p.L690P|SFRS2IP_uc001roy.1_Missense_Mutation_p.L1079P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	1005					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)										0.363208	248.731934	252.216342	77	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46320470	46320470	14667	12	A	G	G	G	195	15	SFRS2IP	4	4
SLC38A1	81539	broad.mit.edu	37	12	46582801	46582801	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46582801C>A	uc001rpb.2	-	c.1416G>T	c.(1414-1416)TTG>TTT	p.L472F	SLC38A1_uc001rpc.2_Missense_Mutation_p.L472F|SLC38A1_uc001rpd.2_Missense_Mutation_p.L472F|SLC38A1_uc001rpe.2_Missense_Mutation_p.L472F|SLC38A1_uc001rpa.2_Missense_Mutation_p.L472F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	472	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)											0.39823	129.924715	130.955724	45	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46582801	46582801	15098	12	C	A	A	A	272	21	SLC38A1	2	2
FAM113B	91523	broad.mit.edu	37	12	47629097	47629097	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:47629097C>T	uc001rpn.2	+	c.251C>T	c.(250-252)TCC>TTC	p.S84F	FAM113B_uc010slj.1_Intron|FAM113B_uc001rpq.2_Missense_Mutation_p.S84F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	84							hydrolase activity			ovary(2)	2	Renal(347;0.138)|Lung SC(27;0.192)													0.546667	252.862451	253.149999	82	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47629097	47629097	5599	12	C	T	T	T	390	30	FAM113B	2	2
COL2A1	1280	broad.mit.edu	37	12	48370606	48370606	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48370606G>A	uc001rqu.2	-	c.3424C>T	c.(3424-3426)CCC>TCC	p.P1142S	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_Non-coding_Transcript|COL2A1_uc001rqv.2_Missense_Mutation_p.P1073S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1142	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.692308	26.877265	27.305014	9	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48370606	48370606	3825	12	G	A	A	A	546	42	COL2A1	2	2
ADCY6	112	broad.mit.edu	37	12	49168255	49168255	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49168255G>A	uc001rsh.3	-	c.2213C>T	c.(2212-2214)TCA>TTA	p.S738L	ADCY6_uc001rsj.3_Missense_Mutation_p.S738L|ADCY6_uc001rsi.3_Missense_Mutation_p.S738L|ADCY6_uc010slw.1_5'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	738					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.075949	-1.108418	13.446719	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49168255	49168255	299	12	G	A	A	A	585	45	ADCY6	2	2
CCDC65	85478	broad.mit.edu	37	12	49315155	49315155	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49315155C>G	uc001rso.2	+	c.1384C>G	c.(1384-1386)CAA>GAA	p.Q462E		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	462										ovary(1)	1														0.072464	-0.582204	12.397927	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49315155	49315155	2960	12	C	G	G	G	377	29	CCDC65	3	3
SLC4A8	9498	broad.mit.edu	37	12	51845937	51845937	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51845937C>G	uc001rys.1	+	c.307C>G	c.(307-309)CTT>GTT	p.L103V	SLC4A8_uc010sni.1_Missense_Mutation_p.L50V|SLC4A8_uc001rym.2_Missense_Mutation_p.L50V|SLC4A8_uc001ryn.2_Missense_Mutation_p.L50V|SLC4A8_uc001ryo.2_Missense_Mutation_p.L50V|SLC4A8_uc001ryp.1_Missense_Mutation_p.L50V|SLC4A8_uc010snj.1_Missense_Mutation_p.L130V|SLC4A8_uc001ryq.3_Missense_Mutation_p.L103V|SLC4A8_uc001ryr.2_Missense_Mutation_p.L103V|SLC4A8_uc010snk.1_Missense_Mutation_p.L50V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	103	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.15)										0.081967	9.031087	63.280048	25	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51845937	51845937	15156	12	C	G	G	G	416	32	SLC4A8	3	3
EIF4B	1975	broad.mit.edu	37	12	53413716	53413716	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53413716G>T	uc010snu.1	+	c.383G>T	c.(382-384)CGT>CTT	p.R128L	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc001sbh.3_Missense_Mutation_p.R128L|EIF4B_uc010snv.1_Intron|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	128	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2										304				0.283019	44.507121	46.745473	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53413716	53413716	5218	12	G	T	T	T	520	40	EIF4B	1	1
SP7	121340	broad.mit.edu	37	12	53722618	53722618	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53722618G>T	uc001sct.2	-	c.608C>A	c.(607-609)GCT>GAT	p.A203D	SP7_uc001scu.2_Missense_Mutation_p.A185D|SP7_uc001scv.2_Missense_Mutation_p.A203D	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.2	17.153116	20.92821	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53722618	53722618	15469	12	G	T	T	T	442	34	SP7	2	2
MAP3K12	7786	broad.mit.edu	37	12	53876154	53876154	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53876154C>G	uc001sdn.1	-	c.2239_splice	c.e12-1	p.K747_splice	MAP3K12_uc001sdm.1_Splice_Site_SNP_p.K714_splice	NM_006301	NP_006292			mitogen-activated protein kinase kinase kinase						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)	4										178				0.208333	60.812841	70.263397	25	95	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	53876154	53876154	9629	12	C	G	G	G	416	32	MAP3K12	5	3
ATF7	11016	broad.mit.edu	37	12	53910986	53910986	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53910986C>T	uc001sdy.2	-	c.1420G>A	c.(1420-1422)GAA>AAA	p.E474K	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.2_Missense_Mutation_p.E463K|ATF7_uc010sol.1_Missense_Mutation_p.E442K	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	activating transcription factor 7 isoform 1	474	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms|regulation of transcription, DNA-dependent	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.038596	-44.297344	21.256474	11	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53910986	53910986	1105	12	C	T	T	T	416	32	ATF7	2	2
HOXC13	3229	broad.mit.edu	37	12	54338903	54338903	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54338903A>T	uc001sei.2	+	c.856A>T	c.(856-858)ACC>TCC	p.T286S	HOXC13_uc010sop.1_Non-coding_Transcript	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	286	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				0.163265	26.938358	37.502416	16	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54338903	54338903	7604	12	A	T	T	T	78	6	HOXC13	3	3
HOXC9	3225	broad.mit.edu	37	12	54396303	54396303	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54396303G>A	uc001sep.2	+	c.628G>A	c.(628-630)GAG>AAG	p.E210K	HOXC9_uc001seq.2_Missense_Mutation_p.E210K	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	210	Homeobox.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|pancreas(1)	2														0.038961	-36.683091	16.301708	9	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54396303	54396303	7609	12	G	A	A	A	533	41	HOXC9	2	2
KIAA0748	9840	broad.mit.edu	37	12	55357556	55357556	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55357556C>T	uc001sgn.3	-	c.625G>A	c.(625-627)GAA>AAA	p.E209K	KIAA0748_uc001sgl.3_Missense_Mutation_p.E71K|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Missense_Mutation_p.E71K|KIAA0748_uc010spd.1_Missense_Mutation_p.E209K|KIAA0748_uc001sgo.3_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	209										ovary(1)|central_nervous_system(1)	2														0.138298	19.690196	31.515378	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55357556	55357556	8497	12	C	T	T	T	377	29	KIAA0748	2	2
OR6C6	283365	broad.mit.edu	37	12	55688179	55688179	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55688179C>A	uc010sph.1	-	c.838G>T	c.(838-840)GCC>TCC	p.A280S		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.081081	-0.77486	12.428984	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55688179	55688179	11604	12	C	A	A	A	325	25	OR6C6	2	2
NTF3	4908	broad.mit.edu	37	12	5603706	5603706	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5603706G>A	uc001qnk.3	+	c.365G>A	c.(364-366)AGC>AAC	p.S122N	NTF3_uc001qnl.3_Missense_Mutation_p.S109N	NM_001102654	NP_001096124	P20783	NTF3_HUMAN	neurotrophin 3 isoform 1 preproprotein	109					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						GBM(194;1104 2182 8339 9578 18493)								0.551724	92.68513	92.818263	32	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5603706	5603706	11101	12	G	A	A	A	442	34	NTF3	2	2
DGKA	1606	broad.mit.edu	37	12	56345838	56345838	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56345838G>A	uc001sij.2	+	c.1607G>A	c.(1606-1608)CGA>CAA	p.R536Q	DGKA_uc001sii.1_Missense_Mutation_p.R394Q|DGKA_uc009zod.1_Missense_Mutation_p.R455Q|DGKA_uc001sik.2_Missense_Mutation_p.R536Q|DGKA_uc001sil.2_Missense_Mutation_p.R536Q|DGKA_uc001sim.2_Missense_Mutation_p.R536Q|DGKA_uc001sin.2_Missense_Mutation_p.R536Q|DGKA_uc009zof.2_Missense_Mutation_p.R182Q|DGKA_uc001sio.2_Missense_Mutation_p.R278Q	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)									0.117486	48.589492	101.26304	43	323	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56345838	56345838	4644	12	G	A	A	A	481	37	DGKA	1	1
SMARCC2	6601	broad.mit.edu	37	12	56563579	56563579	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56563579C>G	uc001skb.2	-	c.2436G>C	c.(2434-2436)AAG>AAC	p.K812N	SMARCC2_uc001skd.2_Missense_Mutation_p.K843N|SMARCC2_uc001ska.2_Missense_Mutation_p.K843N|SMARCC2_uc001skc.2_Missense_Mutation_p.K842N|SMARCC2_uc010sqf.1_Missense_Mutation_p.K732N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	812	Glu-rich.				chromatin assembly or disassembly|chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	chromatin|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	chromatin binding|DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)											0.085714	9.279168	51.906958	21	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56563579	56563579	15274	12	C	G	G	G	415	32	SMARCC2	3	3
COQ10A	93058	broad.mit.edu	37	12	56661650	56661650	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56661650G>C	uc001sko.3	+	c.207G>C	c.(205-207)TCG>TCC	p.S69S	COQ10A_uc001skp.3_Silent_p.S37S|COQ10A_uc001skq.3_Silent_p.S52S	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A isoform a	69						mitochondrial inner membrane				ovary(1)	1														0.137255	13.326498	19.788636	7	44	KEEP	---	---	---	---	capture		Silent	SNP	56661650	56661650	3881	12	G	C	C	C	470	37	COQ10A	3	3
BAZ2A	11176	broad.mit.edu	37	12	57007918	57007918	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57007918C>G	uc001slq.1	-	c.741G>C	c.(739-741)CTG>CTC	p.L247L	BAZ2A_uc001slp.1_Silent_p.L245L|BAZ2A_uc009zow.1_Silent_p.L215L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	247					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|transcription regulator activity|zinc ion binding				0														0.052326	-15.175274	21.264214	9	163	KEEP	---	---	---	---	capture		Silent	SNP	57007918	57007918	1352	12	C	G	G	G	366	29	BAZ2A	3	3
ARHGAP9	64333	broad.mit.edu	37	12	57872991	57872991	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57872991G>A	uc001sod.2	-	c.412C>T	c.(412-414)CTA>TTA	p.L138L	ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Silent_p.L67L|ARHGAP9_uc001soc.2_Silent_p.L67L|ARHGAP9_uc001soe.1_Silent_p.L146L|ARHGAP9_uc010sro.1_Silent_p.L67L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	67	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)											0.406926	285.693726	287.444777	94	137	KEEP	---	---	---	---	capture		Silent	SNP	57872991	57872991	903	12	G	A	A	A	451	35	ARHGAP9	2	2
XPOT	11260	broad.mit.edu	37	12	64828639	64828639	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64828639C>T	uc001ssb.2	+	c.2635C>T	c.(2635-2637)CTA>TTA	p.L879L		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	879	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)										0.153374	50.268607	68.998344	25	138	KEEP	---	---	---	---	capture		Silent	SNP	64828639	64828639	18033	12	C	T	T	T	311	24	XPOT	2	2
TBK1	29110	broad.mit.edu	37	12	64878273	64878273	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64878273G>C	uc001ssc.1	+	c.1183G>C	c.(1183-1185)GAA>CAA	p.E395Q		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	395					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|protein phosphorylation|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)						569				0.073171	-1.00371	6.67599	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64878273	64878273	16163	12	G	C	C	C	585	45	TBK1	3	3
HELB	92797	broad.mit.edu	37	12	66698701	66698701	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66698701C>T	uc001sti.2	+	c.378C>T	c.(376-378)ATC>ATT	p.I126I	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	126					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)										0.063291	-4.192942	11.494585	5	74	KEEP	---	---	---	---	capture		Silent	SNP	66698701	66698701	7328	12	C	T	T	T	408	32	HELB	2	2
LPAR5	57121	broad.mit.edu	37	12	6730295	6730295	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6730295G>T	uc009zer.2	-	c.120C>A	c.(118-120)AAC>AAA	p.N40K	LPAR5_uc001qps.2_Missense_Mutation_p.N40K|LPAR5_uc010sff.1_Missense_Mutation_p.N40K	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	40	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.N40K(1)		ovary(1)	1						NSCLC(74;891 2312 37538)								0.533333	27.129858	27.14833	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6730295	6730295	9281	12	G	T	T	T	516	40	LPAR5	1	1
IL26	55801	broad.mit.edu	37	12	68619522	68619522	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:68619522G>A	uc001stx.1	-	c.15C>T	c.(13-15)TTC>TTT	p.F5F		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	5					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)										0.039711	-43.072451	20.190808	11	266	KEEP	---	---	---	---	capture		Silent	SNP	68619522	68619522	7980	12	G	A	A	A	581	45	IL26	2	2
NUP107	57122	broad.mit.edu	37	12	69129095	69129095	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69129095G>A	uc001suf.2	+	c.2473G>A	c.(2473-2475)GAT>AAT	p.D825N	NUP107_uc001sug.2_Missense_Mutation_p.D584N|NUP107_uc010stj.1_Missense_Mutation_p.D796N	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	825					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding				0	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)											0.04698	-18.804947	13.78717	7	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69129095	69129095	11158	12	G	A	A	A	585	45	NUP107	2	2
SPSB2	84727	broad.mit.edu	37	12	6981479	6981479	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6981479C>T	uc010sfp.1	-	c.587G>A	c.(586-588)GGC>GAC	p.G196D	SPSB2_uc001qrl.2_Missense_Mutation_p.G196D|SPSB2_uc001qrm.2_Missense_Mutation_p.G196D|LRRC23_uc001qrn.1_5'Flank	NM_001146317	NP_001139789	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	196	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1												OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.190476	24.508163	30.117443	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6981479	6981479	15627	12	C	T	T	T	338	26	SPSB2	2	2
PTPRB	5787	broad.mit.edu	37	12	70983967	70983967	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70983967C>A	uc001swc.3	-	c.1827G>T	c.(1825-1827)ATG>ATT	p.M609I	PTPRB_uc001swb.3_Missense_Mutation_p.M391I|PTPRB_uc010sto.1_Missense_Mutation_p.M391I|PTPRB_uc010stp.1_Intron|PTPRB_uc001swa.3_Missense_Mutation_p.M609I|PTPRB_uc001swd.3_Missense_Mutation_p.M608I|PTPRB_uc009zrr.1_Missense_Mutation_p.M488I	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	391	Fibronectin type-III 5.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)									OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.235294	79.514292	89.330062	36	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70983967	70983967	13253	12	C	A	A	A	377	29	PTPRB	2	2
PTPRR	5801	broad.mit.edu	37	12	71286585	71286585	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71286585G>T	uc001swi.1	-	c.231C>A	c.(229-231)CGC>CGA	p.R77R		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)										0.202186	74.640615	89.685945	37	146	KEEP	---	---	---	---	capture		Silent	SNP	71286585	71286585	13268	12	G	T	T	T	535	42	PTPRR	2	2
LGR5	8549	broad.mit.edu	37	12	71974202	71974202	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71974202A>T	uc001swl.2	+	c.1551A>T	c.(1549-1551)CAA>CAT	p.Q517H	LGR5_uc001swm.2_Missense_Mutation_p.Q493H|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	517	Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.39819	258.051268	260.055822	88	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71974202	71974202	9083	12	A	T	T	T	37	3	LGR5	3	3
LGR5	8549	broad.mit.edu	37	12	71977971	71977971	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71977971C>T	uc001swl.2	+	c.2181C>T	c.(2179-2181)GTC>GTT	p.V727V	LGR5_uc001swm.2_Silent_p.V703V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	727	Helical; Name=5; (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.367876	205.205143	208.153385	71	122	KEEP	---	---	---	---	capture		Silent	SNP	71977971	71977971	9083	12	C	T	T	T	392	31	LGR5	1	1
TPH2	121278	broad.mit.edu	37	12	72425109	72425109	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72425109C>G	uc009zrw.1	+	c.1236C>G	c.(1234-1236)ATC>ATG	p.I412M	TPH2_uc001swy.2_Missense_Mutation_p.I322M	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	412					aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)	3					L-Tryptophan(DB00150)									0.130435	10.521161	16.629026	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72425109	72425109	16946	12	C	G	G	G	369	29	TPH2	3	3
C1R	715	broad.mit.edu	37	12	7242749	7242749	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7242749C>A	uc010sfy.1	-	c.327G>T	c.(325-327)GGG>GGT	p.G109G	C1R_uc010sfz.1_Silent_p.G123G|C1R_uc010sga.1_Intron	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	109	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.090909	0.800427	6.368335	3	30	KEEP	---	---	---	---	capture		Silent	SNP	7242749	7242749	2039	12	C	A	A	A	379	30	C1R	2	2
CAPS2	84698	broad.mit.edu	37	12	75676059	75676059	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75676059A>C	uc001sxl.3	-	c.1584T>G	c.(1582-1584)TGT>TGG	p.C528W	CAPS2_uc001sxm.3_Missense_Mutation_p.C315W|CAPS2_uc009zsa.2_Missense_Mutation_p.C137W|CAPS2_uc001sxi.3_Missense_Mutation_p.C283W|CAPS2_uc001sxj.3_Missense_Mutation_p.C458W|CAPS2_uc001sxk.3_Missense_Mutation_p.C547W	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	547	EF-hand 3.						calcium ion binding			ovary(2)	2														0.276923	52.926675	55.834726	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75676059	75676059	2757	12	A	C	C	C	76	6	CAPS2	4	4
APOBEC1	339	broad.mit.edu	37	12	7805422	7805422	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7805422G>T	uc001qtb.2	-	c.54C>A	c.(52-54)ATC>ATA	p.I18I	APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Silent_p.I18I	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme	18					cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						Pancreas(135;929 1826 4531 10527 41012)								0.1	1.255149	9.543707	5	45	KEEP	---	---	---	---	capture		Silent	SNP	7805422	7805422	798	12	G	T	T	T	473	37	APOBEC1	1	1
NAV3	89795	broad.mit.edu	37	12	78444770	78444770	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78444770C>A	uc001syp.2	+	c.2359C>A	c.(2359-2361)CGA>AGA	p.R787R	NAV3_uc001syo.2_Silent_p.R787R|NAV3_uc010sub.1_Silent_p.R287R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	787						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.146341	10.024779	14.95245	6	35	KEEP	---	---	---	---	capture		Silent	SNP	78444770	78444770	10581	12	C	A	A	A	399	31	NAV3	1	1
ATP2B1	490	broad.mit.edu	37	12	89996906	89996906	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:89996906T>A	uc001tbh.2	-	c.2974A>T	c.(2974-2976)AAA>TAA	p.K992*	ATP2B1_uc001tbg.2_Nonsense_Mutation_p.K992*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.K662*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	992	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.166667	14.369226	19.426943	8	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89996906	89996906	1158	12	T	A	A	A	806	62	ATP2B1	5	3
ATP2B1	490	broad.mit.edu	37	12	90028903	90028903	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:90028903C>G	uc001tbh.2	-	c.532G>C	c.(532-534)GAA>CAA	p.E178Q	ATP2B1_uc001tbg.2_Missense_Mutation_p.E178Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	178	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3														0.052632	-8.700865	11.382955	5	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90028903	90028903	1158	12	C	G	G	G	390	30	ATP2B1	3	3
A2ML1	144568	broad.mit.edu	37	12	9010579	9010579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9010579C>T	uc001quz.3	+	c.3145C>T	c.(3145-3147)CAG>TAG	p.Q1049*	A2ML1_uc001qva.1_Nonsense_Mutation_p.Q629*|A2ML1_uc010sgm.1_Nonsense_Mutation_p.Q549*	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	893						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.139241	16.668331	26.605751	11	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9010579	9010579	6	12	C	T	T	T	377	29	A2ML1	5	2
CCDC38	120935	broad.mit.edu	37	12	96284693	96284693	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:96284693G>C	uc001tek.1	-	c.788C>G	c.(787-789)TCA>TGA	p.S263*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	263											0														0.101695	7.404154	16.73928	6	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96284693	96284693	2932	12	G	C	C	C	585	45	CCDC38	5	3
C12orf63	374467	broad.mit.edu	37	12	97147597	97147597	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97147597G>T	uc001tet.1	+	c.3036G>T	c.(3034-3036)CTG>CTT	p.L1012L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1012										ovary(1)	1														0.174603	21.283015	27.58378	11	52	KEEP	---	---	---	---	capture		Silent	SNP	97147597	97147597	1750	12	G	T	T	T	613	48	C12orf63	2	2
NEDD1	121441	broad.mit.edu	37	12	97334248	97334248	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97334248G>T	uc001tew.2	+	c.1200G>T	c.(1198-1200)CAG>CAT	p.Q400H	NEDD1_uc001teu.3_Missense_Mutation_p.Q393H|NEDD1_uc001tev.3_Missense_Mutation_p.Q393H|NEDD1_uc010svc.1_Missense_Mutation_p.Q304H|NEDD1_uc001tex.2_Missense_Mutation_p.Q304H	NM_001135175	NP_001128647	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	393					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0														0.243902	24.731545	27.180889	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97334248	97334248	10708	12	G	T	T	T	451	35	NEDD1	2	2
CLYBL	171425	broad.mit.edu	37	13	100543592	100543592	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100543592G>T	uc001vok.2	+	c.948G>T	c.(946-948)GGG>GGT	p.G316G		NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	316					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.339623	45.929547	47.136673	18	35	KEEP	---	---	---	---	capture		Silent	SNP	100543592	100543592	3711	13	G	T	T	T	522	41	CLYBL	2	2
TMTC4	84899	broad.mit.edu	37	13	101287330	101287330	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101287330C>A	uc001vot.2	-	c.1322G>T	c.(1321-1323)TGT>TTT	p.C441F	TMTC4_uc001vou.2_Missense_Mutation_p.C422F|TMTC4_uc010tja.1_Missense_Mutation_p.C311F|TMTC4_uc001vov.1_Missense_Mutation_p.C167F|TMTC4_uc001vow.1_Missense_Mutation_p.C205F	NM_032813	NP_116202	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	422	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.3	32.685325	34.114313	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101287330	101287330	16804	13	C	A	A	A	221	17	TMTC4	2	2
NALCN	259232	broad.mit.edu	37	13	101721105	101721105	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101721105A>T	uc001vox.1	-	c.4272T>A	c.(4270-4272)CTT>CTA	p.L1424L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1424	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.153846	8.324555	12.795787	6	33	KEEP	---	---	---	---	capture		Silent	SNP	101721105	101721105	10544	13	A	T	T	T	158	13	NALCN	3	3
SLC10A2	6555	broad.mit.edu	37	13	103718440	103718440	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103718440C>T	uc001vpy.3	-	c.160G>A	c.(160-162)GAA>AAA	p.E54K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	54	Cytoplasmic (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.131868	44.252184	80.30067	36	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103718440	103718440	14869	13	C	T	T	T	390	30	SLC10A2	2	2
ARHGEF7	8874	broad.mit.edu	37	13	111896544	111896544	+	Splice_Site_SNP	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111896544A>C	uc001vrs.2	+	c.918_splice	c.e9-2	p.K306_splice	ARHGEF7_uc001vrr.2_Splice_Site_SNP_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_SNP_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Splice_Site_SNP_p.K128_splice|ARHGEF7_uc001vrv.3_Splice_Site_SNP_p.K128_splice|ARHGEF7_uc001vrw.3_Splice_Site_SNP_p.K128_splice|ARHGEF7_uc001vrx.3_Splice_Site_SNP_p.K128_splice|ARHGEF7_uc010tjo.1_Splice_Site_SNP_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_SNP_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_SNP_p.K50_splice	NM_001113511	NP_001106983			PAK-interacting exchange factor beta isoform c						apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)							707				0.096774	3.007002	8.05243	3	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	111896544	111896544	926	13	A	C	C	C	195	15	ARHGEF7	5	4
TPTE2	93492	broad.mit.edu	37	13	20010405	20010405	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:20010405G>A	uc001umd.2	-	c.1077C>T	c.(1075-1077)ACC>ACT	p.T359T	TPTE2_uc009zzk.2_Non-coding_Transcript|TPTE2_uc009zzl.2_Silent_p.T248T|TPTE2_uc001ume.2_Silent_p.T282T|TPTE2_uc009zzm.2_Silent_p.T30T|TPTE2_uc010tcm.1_Non-coding_Transcript|TPTE2_uc010tcl.1_Silent_p.T30T	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	359	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)										0.111111	6.208859	14.284677	6	48	KEEP	---	---	---	---	capture		Silent	SNP	20010405	20010405	16975	13	G	A	A	A	548	43	TPTE2	2	2
PARP4	143	broad.mit.edu	37	13	25075884	25075884	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25075884G>C	uc001upl.2	-	c.221C>G	c.(220-222)CCA>CGA	p.P74R	PARP4_uc010tdc.1_Missense_Mutation_p.P74R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	74	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)										0.193548	24.56621	29.999498	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25075884	25075884	11880	13	G	C	C	C	611	47	PARP4	3	3
STARD13	90627	broad.mit.edu	37	13	33684072	33684072	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33684072C>T	uc001uuw.2	-	c.2985G>A	c.(2983-2985)GAG>GAA	p.E995E	STARD13_uc001uuu.2_Silent_p.E987E|STARD13_uc001uuv.2_Silent_p.E877E|STARD13_uc001uux.2_Silent_p.E960E|STARD13_uc010tec.1_Non-coding_Transcript	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	995	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)								OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.136986	16.517323	25.81284	10	63	KEEP	---	---	---	---	capture		Silent	SNP	33684072	33684072	15775	13	C	T	T	T	415	32	STARD13	2	2
POSTN	10631	broad.mit.edu	37	13	38172752	38172752	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38172752C>A	uc001uwo.3	-	c.112G>T	c.(112-114)GAC>TAC	p.D38Y	POSTN_uc001uwp.3_Missense_Mutation_p.D38Y|POSTN_uc001uwr.2_Missense_Mutation_p.D38Y|POSTN_uc001uwq.2_Missense_Mutation_p.D38Y|POSTN_uc010teu.1_Missense_Mutation_p.D38Y|POSTN_uc010tev.1_Missense_Mutation_p.D38Y|POSTN_uc010tew.1_Missense_Mutation_p.D38Y|POSTN_uc010tex.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	38					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.141026	16.672841	26.371831	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38172752	38172752	12688	13	C	A	A	A	390	30	POSTN	2	2
TRPC4	7223	broad.mit.edu	37	13	38211588	38211588	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38211588G>A	uc010abx.2	-	c.2401C>T	c.(2401-2403)CTT>TTT	p.L801F	TRPC4_uc010abv.2_Missense_Mutation_p.L376F|TRPC4_uc001uwt.2_Intron|TRPC4_uc001uws.2_Missense_Mutation_p.L796F|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.L623F|TRPC4_uc010aby.2_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	796	Binds to ITPR1, ITPR2 and ITPR3.|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)										0.150943	13.732802	19.866218	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38211588	38211588	17131	13	G	A	A	A	455	35	TRPC4	2	2
TRPC4	7223	broad.mit.edu	37	13	38357400	38357400	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38357400C>G	uc010abx.2	-	c.71G>C	c.(70-72)AGA>ACA	p.R24T	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.R24T|TRPC4_uc001uws.2_Missense_Mutation_p.R24T|TRPC4_uc010tey.1_Missense_Mutation_p.R24T|TRPC4_uc010abw.2_Missense_Mutation_p.R24T|TRPC4_uc010aby.2_Missense_Mutation_p.R24T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	24	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)										0.07619	0.614094	19.937591	8	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38357400	38357400	17131	13	C	G	G	G	416	32	TRPC4	3	3
C13orf23	80209	broad.mit.edu	37	13	39600516	39600516	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:39600516C>A	uc001uwy.2	-	c.378G>T	c.(376-378)AAG>AAT	p.K126N	C13orf23_uc001uwz.2_Missense_Mutation_p.K104N	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	126										ovary(2)	2		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)										0.402985	77.910128	78.461836	27	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39600516	39600516	1768	13	C	A	A	A	311	24	C13orf23	2	2
DGKH	160851	broad.mit.edu	37	13	42784760	42784760	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42784760C>A	uc001uyl.1	+	c.2873C>A	c.(2872-2874)TCT>TAT	p.S958Y	DGKH_uc010tfh.1_Missense_Mutation_p.S958Y|DGKH_uc001uym.1_Missense_Mutation_p.S958Y|DGKH_uc010tfi.1_Missense_Mutation_p.S713Y|DGKH_uc010tfj.1_Missense_Mutation_p.S813Y|DGKH_uc001uyn.1_Non-coding_Transcript|DGKH_uc001uyo.1_Missense_Mutation_p.S813Y|DGKH_uc001uyp.2_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	958					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)										0.114286	7.945868	18.217506	8	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42784760	42784760	4649	13	C	A	A	A	416	32	DGKH	2	2
ENOX1	55068	broad.mit.edu	37	13	43930117	43930117	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43930117G>C	uc001uza.3	-	c.761C>G	c.(760-762)TCC>TGC	p.S254C	ENOX1_uc001uzb.3_Missense_Mutation_p.S254C|ENOX1_uc001uzc.3_Missense_Mutation_p.S254C|ENOX1_uc001uyz.3_De_novo_Start_OutOfFrame|ENOX1_uc010tfm.1_Missense_Mutation_p.S67C	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	254					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)	1		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)										0.142857	15.748956	23.480305	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43930117	43930117	5319	13	G	C	C	C	533	41	ENOX1	3	3
TSC22D1	8848	broad.mit.edu	37	13	45149030	45149030	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:45149030G>C	uc001uzn.3	-	c.1181C>G	c.(1180-1182)TCA>TGA	p.S394*	TSC22D1_uc001uzo.1_Nonsense_Mutation_p.S394*	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	394					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)										0.151515	10.454632	14.291022	5	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45149030	45149030	17158	13	G	C	C	C	585	45	TSC22D1	5	3
COG3	83548	broad.mit.edu	37	13	46083856	46083856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46083856C>T	uc001vak.2	+	c.1624C>T	c.(1624-1626)CAG>TAG	p.Q542*	COG3_uc001vaj.1_Nonsense_Mutation_p.Q542*|COG3_uc010tfv.1_Nonsense_Mutation_p.Q379*|COG3_uc010aci.2_Nonsense_Mutation_p.Q318*	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	542					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)	1		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		Ovarian(150;1048 1859 18083 21577 42700)								0.089686	3.628831	41.540512	20	203	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46083856	46083856	3797	13	C	T	T	T	221	17	COG3	5	2
ZC3H13	23091	broad.mit.edu	37	13	46549455	46549455	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46549455T>A	uc010tfw.1	-	c.2431A>T	c.(2431-2433)AGG>TGG	p.R811W	ZC3H13_uc001vas.1_Missense_Mutation_p.R811W|ZC3H13_uc001vat.1_Missense_Mutation_p.R811W	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	811	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.085911	14.185805	115.338636	50	532	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46549455	46549455	18153	13	T	A	A	A	687	53	ZC3H13	3	3
LCP1	3936	broad.mit.edu	37	13	46718607	46718607	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46718607C>A	uc001vaz.3	-	c.1223G>T	c.(1222-1224)GGT>GTT	p.G408V	LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Missense_Mutation_p.G5V|LCP1_uc001vba.3_Missense_Mutation_p.G408V	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	408	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			ovary(2)	2		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)						600				0.246377	41.740653	45.782023	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46718607	46718607	9015	13	C	A	A	A	234	18	LCP1	2	2
C13orf18	80183	broad.mit.edu	37	13	46946097	46946097	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46946097G>C	uc010acl.2	-	c.514C>G	c.(514-516)CTG>GTG	p.L172V	C13orf18_uc001vbf.3_Missense_Mutation_p.L105V|C13orf18_uc001vbg.3_De_novo_Start_InFrame|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.L37V|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.L172V|C13orf18_uc001vbh.3_Missense_Mutation_p.L172V|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.L172V|C13orf18_uc010tga.1_Missense_Mutation_p.L105V	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	172											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)										0.057143	-5.560513	8.854065	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46946097	46946097	1767	13	G	C	C	C	425	33	C13orf18	3	3
CYSLTR2	57105	broad.mit.edu	37	13	49281763	49281763	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49281763C>A	uc010acx.1	+	c.810C>A	c.(808-810)CAC>CAA	p.H270Q	CYSLTR2_uc010acy.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010acz.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010ada.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010adb.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010adc.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010add.1_Missense_Mutation_p.H270Q|CYSLTR2_uc010acw.1_Missense_Mutation_p.H270Q|CYSLTR2_uc001vck.2_Missense_Mutation_p.H270Q	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	270	Extracellular (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)					46				0.084746	-0.757166	9.561259	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49281763	49281763	4367	13	C	A	A	A	259	20	CYSLTR2	2	2
WDFY2	115825	broad.mit.edu	37	13	52293419	52293419	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52293419G>T	uc001vfp.2	+	c.420G>T	c.(418-420)TGG>TGT	p.W140C	WDFY2_uc010ads.1_Missense_Mutation_p.W140C|WDFY2_uc010adt.1_Intron	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	140	WD 3.						zinc ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)										0.379747	79.701345	80.676298	30	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52293419	52293419	17841	13	G	T	T	T	546	42	WDFY2	2	2
OLFM4	10562	broad.mit.edu	37	13	53624766	53624766	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53624766G>T	uc001vhl.2	+	c.1393G>T	c.(1393-1395)GGC>TGC	p.G465C	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	465	Olfactomedin-like.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)						717				0.357895	91.988426	93.650198	34	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53624766	53624766	11260	13	G	T	T	T	559	43	OLFM4	2	2
PCDH20	64881	broad.mit.edu	37	13	61985377	61985377	+	Nonstop_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61985377C>G	uc001vid.3	-	c.2855G>C	c.(2854-2856)TGA>TCA	p.*952S	PCDH20_uc010thj.1_Nonstop_Mutation_p.*952S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)										0.069767	-0.810839	7.407428	3	40	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	61985377	61985377	11935	13	C	G	G	G	376	29	PCDH20	5	3
PIBF1	10464	broad.mit.edu	37	13	73401164	73401164	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73401164G>C	uc001vjc.2	+	c.823G>C	c.(823-825)GAA>CAA	p.E275Q	PIBF1_uc001vja.1_Missense_Mutation_p.E275Q|PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.2_Missense_Mutation_p.E275Q|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	275										ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)										0.115385	16.932578	32.078922	12	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73401164	73401164	12303	13	G	C	C	C	585	45	PIBF1	3	3
SCEL	8796	broad.mit.edu	37	13	78165533	78165533	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:78165533G>C	uc001vki.2	+	c.630G>C	c.(628-630)CAG>CAC	p.Q210H	SCEL_uc001vkj.2_Missense_Mutation_p.Q210H|SCEL_uc010thx.1_Missense_Mutation_p.Q188H	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	210					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)										0.136364	10.518588	16.152869	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78165533	78165533	14369	13	G	C	C	C	425	33	SCEL	3	3
SLITRK6	84189	broad.mit.edu	37	13	86368537	86368537	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86368537C>A	uc001vll.1	-	c.2107G>T	c.(2107-2109)GAA>TAA	p.E703*	SLITRK6_uc010afe.1_Nonsense_Mutation_p.E156*	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	703	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.078261	-3.877659	17.004363	9	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86368537	86368537	15245	13	C	A	A	A	390	30	SLITRK6	5	2
DYNC1H1	1778	broad.mit.edu	37	14	102498629	102498629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102498629C>T	uc001yks.2	+	c.9904C>T	c.(9904-9906)CAG>TAG	p.Q3302*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3302	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10														0.044444	-18.72501	11.216327	6	129	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102498629	102498629	5027	14	C	T	T	T	325	25	DYNC1H1	5	2
CDC42BPB	9578	broad.mit.edu	37	14	103450009	103450009	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103450009C>A	uc001ymi.1	-	c.775G>T	c.(775-777)GGG>TGG	p.G259W		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	259	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction|protein phosphorylation	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|lung(2)|ovary(1)|breast(1)|skin(1)	8		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)						1085				0.196721	27.57441	32.794367	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103450009	103450009	3201	14	C	A	A	A	299	23	CDC42BPB	1	1
OR4Q3	441669	broad.mit.edu	37	14	20215648	20215648	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20215648G>T	uc010tkt.1	+	c.62G>T	c.(61-63)TGG>TTG	p.W21L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.069444	-9.656567	31.72031	15	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20215648	20215648	11491	14	G	T	T	T	611	47	OR4Q3	2	2
OR11H4	390442	broad.mit.edu	37	14	20711796	20711796	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20711796G>T	uc010tld.1	+	c.846G>T	c.(844-846)AAG>AAT	p.K282N		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)										0.131944	25.518552	44.47954	19	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20711796	20711796	11334	14	G	T	T	T	425	33	OR11H4	2	2
PARP2	10038	broad.mit.edu	37	14	20824169	20824169	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20824169C>T	uc001vxc.2	+	c.1119C>T	c.(1117-1119)GAC>GAT	p.D373D	PARP2_uc001vxd.2_Silent_p.D360D|PARP2_uc001vxb.1_Silent_p.D373D|PARP2_uc010tle.1_Silent_p.D123D	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2	373	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)										0.210762	107.305671	124.559792	47	176	KEEP	---	---	---	---	capture		Silent	SNP	20824169	20824169	11878	14	C	T	T	T	233	18	PARP2	2	2
RNASE10	338879	broad.mit.edu	37	14	20978753	20978753	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20978753C>T	uc001vxp.2	+	c.207C>T	c.(205-207)CTC>CTT	p.L69L	RNASE10_uc010tlj.1_Silent_p.L41L	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	41						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)										0.112245	18.010811	47.128944	22	174	KEEP	---	---	---	---	capture		Silent	SNP	20978753	20978753	13877	14	C	T	T	T	366	29	RNASE10	2	2
OR6S1	341799	broad.mit.edu	37	14	21109585	21109585	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21109585G>C	uc001vxv.1	-	c.266C>G	c.(265-267)TCA>TGA	p.S89*		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)										0.090395	10.859712	40.816638	16	161	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21109585	21109585	11620	14	G	C	C	C	585	45	OR6S1	5	3
TOX4	9878	broad.mit.edu	37	14	21963405	21963405	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21963405G>A	uc001waz.2	+	c.1659G>A	c.(1657-1659)CAG>CAA	p.Q553Q	TOX4_uc001way.2_Silent_p.Q423Q|TOX4_uc001wba.2_Non-coding_Transcript|TOX4_uc010tlu.1_Silent_p.Q530Q|TOX4_uc010tlv.1_Silent_p.Q423Q	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	553						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)										0.066667	-4.463642	15.976019	7	98	KEEP	---	---	---	---	capture		Silent	SNP	21963405	21963405	16922	14	G	A	A	A	425	33	TOX4	2	2
OR4E2	26686	broad.mit.edu	37	14	22133668	22133668	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22133668G>T	uc010tmd.1	+	c.372G>T	c.(370-372)GTG>GTT	p.V124V		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	124	Cytoplasmic (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				0.236749	164.286322	182.209022	67	216	KEEP	---	---	---	---	capture		Silent	SNP	22133668	22133668	11467	14	G	T	T	T	600	47	OR4E2	2	2
ABHD4	63874	broad.mit.edu	37	14	23072500	23072500	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23072500G>C	uc001wgm.2	+	c.318G>C	c.(316-318)GGG>GGC	p.G106G	ABHD4_uc010tmz.1_Silent_p.G106G|ABHD4_uc010tna.1_Silent_p.G106G|ABHD4_uc010tnb.1_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	106					lipid catabolic process		hydrolase activity			central_nervous_system(1)	1	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)										0.116667	9.887927	18.555952	7	53	KEEP	---	---	---	---	capture		Silent	SNP	23072500	23072500	85	14	G	C	C	C	535	42	ABHD4	3	3
RBM23	55147	broad.mit.edu	37	14	23374637	23374637	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23374637C>G	uc001whg.2	-	c.481G>C	c.(481-483)GAG>CAG	p.E161Q	RBM23_uc001whh.2_Missense_Mutation_p.E145Q|RBM23_uc001whi.2_Missense_Mutation_p.E127Q|RBM23_uc010tne.1_5'UTR|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.E161Q	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	161					mRNA processing	nucleus	nucleotide binding|RNA binding				0	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)										0.193396	99.510332	118.17295	41	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23374637	23374637	13585	14	C	G	G	G	377	29	RBM23	3	3
AP1G2	8906	broad.mit.edu	37	14	24030622	24030622	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24030622G>C	uc001wkl.2	-	c.1876C>G	c.(1876-1878)CTG>GTG	p.L626V	AP1G2_uc001wkj.2_Missense_Mutation_p.L245V|AP1G2_uc001wkk.3_Missense_Mutation_p.L554V|AP1G2_uc001wkn.2_Missense_Mutation_p.L245V|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	626					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)										0.135135	16.994551	26.55031	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24030622	24030622	743	14	G	C	C	C	425	33	AP1G2	3	3
HECTD1	25831	broad.mit.edu	37	14	31613464	31613464	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31613464C>A	uc001wrc.1	-	c.2632_splice	c.e17-1	p.C878_splice	HECTD1_uc001wrd.1_Splice_Site_SNP_p.C393_splice	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(2)|large_intestine(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)										0.176471	5.91374	7.591448	3	14	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31613464	31613464	7322	14	C	A	A	A	260	20	HECTD1	5	2
ARHGAP5	394	broad.mit.edu	37	14	32563450	32563450	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:32563450A>C	uc001wrl.2	+	c.3575A>C	c.(3574-3576)CAT>CCT	p.H1192P	ARHGAP5_uc001wrm.2_Missense_Mutation_p.H1192P|ARHGAP5_uc001wrn.2_Missense_Mutation_p.H1192P|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1192					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(3)|central_nervous_system(1)	4	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		NSCLC(9;77 350 3443 29227 41353)								0.302198	162.758934	169.114495	55	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32563450	32563450	900	14	A	C	C	C	104	8	ARHGAP5	4	4
AKAP6	9472	broad.mit.edu	37	14	33014719	33014719	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:33014719G>T	uc001wrq.2	+	c.860G>T	c.(859-861)AGT>ATT	p.S287I	AKAP6_uc010aml.2_Missense_Mutation_p.S284I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	287					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|large_intestine(2)|lung(2)|pancreas(1)	16	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		Melanoma(49;821 1200 7288 13647 42351)				483				0.241667	74.613944	81.919322	29	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33014719	33014719	458	14	G	T	T	T	468	36	AKAP6	2	2
RALGAPA1	253959	broad.mit.edu	37	14	36194252	36194252	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:36194252C>T	uc001wtj.2	-	c.1844G>A	c.(1843-1845)CGA>CAA	p.R615Q	RALGAPA1_uc001wti.2_Missense_Mutation_p.R615Q|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R615Q|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R615Q|RALGAPA1_uc001wtk.1_Missense_Mutation_p.R466Q	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	615					activation of Ral GTPase activity|signal transduction	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4														0.071429	-1.405394	6.540915	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36194252	36194252	13473	14	C	T	T	T	403	31	RALGAPA1	1	1
C14orf28	122525	broad.mit.edu	37	14	45373679	45373679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45373679G>A	uc001wvo.2	+	c.696G>A	c.(694-696)TGG>TGA	p.W232*	C14orf28_uc001wvp.1_Nonsense_Mutation_p.W232*	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	hypothetical protein LOC122525	232										ovary(1)	1														0.134615	11.107727	17.823068	7	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45373679	45373679	1819	14	G	A	A	A	533	41	C14orf28	5	2
FANCM	57697	broad.mit.edu	37	14	45628325	45628325	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45628325G>T	uc001wwd.3	+	c.1423G>T	c.(1423-1425)GAT>TAT	p.D475Y	FANCM_uc001wwc.2_Missense_Mutation_p.D475Y|FANCM_uc010anf.2_Missense_Mutation_p.D449Y|FANCM_uc001wwe.3_Missense_Mutation_p.D80Y	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	475	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.259259	17.211574	18.62963	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45628325	45628325	5907	14	G	T	T	T	585	45	FANCM	2	2
KLHDC2	23588	broad.mit.edu	37	14	50246943	50246943	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50246943C>T	uc001wwx.2	+	c.786C>T	c.(784-786)GGC>GGT	p.G262G	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Silent_p.G262G|KLHDC2_uc010anp.2_Silent_p.G262G	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	262	Kelch 4.					nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)													0.226415	54.151042	61.431825	24	82	KEEP	---	---	---	---	capture		Silent	SNP	50246943	50246943	8668	14	C	T	T	T	314	25	KLHDC2	2	2
CDKL1	8814	broad.mit.edu	37	14	50802720	50802720	+	Silent	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50802720A>G	uc010anu.1	-	c.2973T>C	c.(2971-2973)TAT>TAC	p.Y991Y	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment					protein phosphorylation	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1	all_epithelial(31;0.000746)|Breast(41;0.0102)									153				0.3	29.982804	31.41343	12	28	KEEP	---	---	---	---	capture		Silent	SNP	50802720	50802720	3282	14	A	G	G	G	92	8	CDKL1	4	4
SAMD4A	23034	broad.mit.edu	37	14	55168881	55168881	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55168881G>A	uc001xbb.2	+	c.295G>A	c.(295-297)GAA>AAA	p.E99K	SAMD4A_uc001xba.2_Missense_Mutation_p.E99K|SAMD4A_uc001xbc.2_Missense_Mutation_p.E99K|SAMD4A_uc001xbf.1_Non-coding_Transcript|SAMD4A_uc001xbe.2_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4 isoform	100					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity				0														0.086207	2.127438	12.190504	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55168881	55168881	14301	14	G	A	A	A	429	33	SAMD4A	2	2
KTN1	3895	broad.mit.edu	37	14	56138593	56138593	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:56138593C>G	uc001xcb.2	+	c.3529C>G	c.(3529-3531)CAG>GAG	p.Q1177E	KTN1_uc001xce.2_Missense_Mutation_p.Q1148E|KTN1_uc001xcc.2_Missense_Mutation_p.Q1177E|KTN1_uc001xcd.2_Missense_Mutation_p.Q1154E|KTN1_uc010trb.1_Missense_Mutation_p.Q1177E|KTN1_uc001xcf.1_Missense_Mutation_p.Q1154E|KTN1_uc010aoq.2_Missense_Mutation_p.Q443E|KTN1_uc010trc.1_Missense_Mutation_p.Q182E|KTN1_uc001xcg.2_Missense_Mutation_p.Q138E	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	1177	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(2)|ovary(1)|central_nervous_system(1)	4										968				0.138889	10.050491	14.586622	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138593	56138593	8908	14	C	G	G	G	221	17	KTN1	3	3
EXOC5	10640	broad.mit.edu	37	14	57675355	57675355	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57675355G>A	uc001xct.2	-	c.2099C>T	c.(2098-2100)TCT>TTT	p.S700F	EXOC5_uc001xcs.2_Missense_Mutation_p.S379F|EXOC5_uc010trg.1_Missense_Mutation_p.S645F|EXOC5_uc010trh.1_Missense_Mutation_p.S635F	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	700					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3														0.132275	38.836196	63.668306	25	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57675355	57675355	5500	14	G	A	A	A	429	33	EXOC5	2	2
MUDENG	55745	broad.mit.edu	37	14	57749651	57749651	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57749651G>C	uc001xcv.2	+	c.1089_splice	c.e5-1	p.R363_splice	MUDENG_uc010tri.1_Splice_Site_SNP_p.R117_splice|MUDENG_uc010trj.1_Splice_Site_SNP_p.R260_splice	NM_018229	NP_060699			Mu-2 related death-inducing protein						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1														0.098361	3.80024	13.654927	6	55	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57749651	57749651	10377	14	G	C	C	C	429	33	MUDENG	5	3
C14orf37	145407	broad.mit.edu	37	14	58599924	58599924	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58599924G>A	uc010tro.1	-	c.1619C>T	c.(1618-1620)TCT>TTT	p.S540F	C14orf37_uc001xdc.2_Missense_Mutation_p.S502F|C14orf37_uc001xdd.2_Missense_Mutation_p.S502F|C14orf37_uc001xde.2_Missense_Mutation_p.S502F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	502	Extracellular (Potential).					integral to membrane	binding				0														0.155844	21.990045	30.666317	12	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58599924	58599924	1820	14	G	A	A	A	429	33	C14orf37	2	2
KCNH5	27133	broad.mit.edu	37	14	63447716	63447716	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63447716C>T	uc001xfx.2	-	c.816G>A	c.(814-816)GGG>GGA	p.G272G	KCNH5_uc001xfy.2_Silent_p.G272G|KCNH5_uc001xfz.1_Silent_p.G214G|KCNH5_uc001xga.2_Silent_p.G214G	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	272	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.164384	19.986293	27.771587	12	61	KEEP	---	---	---	---	capture		Silent	SNP	63447716	63447716	8340	14	C	T	T	T	327	26	KCNH5	2	2
SYNE2	23224	broad.mit.edu	37	14	64407334	64407334	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64407334G>A	uc001xgl.2	+	c.82G>A	c.(82-84)GAA>AAA	p.E28K	SYNE2_uc001xgk.2_Missense_Mutation_p.E28K|SYNE2_uc001xgm.2_Missense_Mutation_p.E28K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	28	Cytoplasmic (Potential).|Actin-binding.				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)										0.052174	-12.548856	11.839683	6	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64407334	64407334	15967	14	G	A	A	A	585	45	SYNE2	2	2
SYNE2	23224	broad.mit.edu	37	14	64447873	64447874	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64447873_64447874GA>TC	uc001xgl.2	+	c.1818_1819GA>TC	c.(1816-1821)AAGAAG>AATCAG	p.606_607KK>NQ	SYNE2_uc001xgm.2_Missense_Mutation_p.606_607KK>NQ	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	606_607	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)										0.066327	-10.09193	28.142634	13	183	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	64447873	64447874	15967	14	GA	TC	TC	TC	425	33	SYNE2	2	2
SYNE2	23224	broad.mit.edu	37	14	64449499	64449499	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64449499C>G	uc001xgl.2	+	c.1988C>G	c.(1987-1989)TCA>TGA	p.S663*	SYNE2_uc001xgm.2_Nonsense_Mutation_p.S663*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	663	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)										0.094595	5.673947	17.885561	7	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64449499	64449499	15967	14	C	G	G	G	377	29	SYNE2	5	3
SYNE2	23224	broad.mit.edu	37	14	64473854	64473854	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64473854C>G	uc001xgl.2	+	c.4491C>G	c.(4489-4491)TTC>TTG	p.F1497L	SYNE2_uc001xgm.2_Missense_Mutation_p.F1497L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1497	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)										0.105381	53.711012	122.719704	47	399	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64473854	64473854	15967	14	C	G	G	G	376	29	SYNE2	3	3
ZFYVE26	23503	broad.mit.edu	37	14	68244283	68244283	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68244283C>T	uc001xka.2	-	c.4967G>A	c.(4966-4968)GGA>GAA	p.G1656E	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.3_Missense_Mutation_p.G1656E	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1656					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)										0.073394	-3.435131	16.912057	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68244283	68244283	18258	14	C	T	T	T	390	30	ZFYVE26	2	2
ZFYVE26	23503	broad.mit.edu	37	14	68249644	68249644	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68249644C>A	uc001xka.2	-	c.4225G>T	c.(4225-4227)GCC>TCC	p.A1409S	ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A1409S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1409					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)										0.122642	15.594984	30.377965	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68249644	68249644	18258	14	C	A	A	A	325	25	ZFYVE26	2	2
ADAM21	8747	broad.mit.edu	37	14	70926066	70926066	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70926066A>T	uc001xmd.2	+	c.1850A>T	c.(1849-1851)AAG>ATG	p.K617M		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	617	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)	1				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)										0.1875	39.497216	49.762481	21	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70926066	70926066	244	14	A	T	T	T	39	3	ADAM21	3	3
ADAM21	8747	broad.mit.edu	37	14	70926203	70926203	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70926203C>A	uc001xmd.2	+	c.1987C>A	c.(1987-1989)CAG>AAG	p.Q663K		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	663	EGF-like.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)	1				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)										0.276923	45.9209	48.832982	18	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70926203	70926203	244	14	C	A	A	A	273	21	ADAM21	2	2
HEATR4	399671	broad.mit.edu	37	14	73945483	73945483	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73945483C>T	uc010tua.1	-	c.2768G>A	c.(2767-2769)AGC>AAC	p.S923N		NM_203309	NP_976054	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	923							binding				0				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)										0.052083	-10.507989	9.863152	5	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73945483	73945483	7313	14	C	T	T	T	364	28	HEATR4	2	2
C14orf43	91748	broad.mit.edu	37	14	74203714	74203714	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74203714T>A	uc010tud.1	-	c.1736A>T	c.(1735-1737)GAT>GTT	p.D579V	C14orf43_uc001xot.2_Missense_Mutation_p.D579V|C14orf43_uc001xou.2_Missense_Mutation_p.D579V|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)										0.136986	13.724455	23.019895	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74203714	74203714	1824	14	T	A	A	A	650	50	C14orf43	3	3
YLPM1	56252	broad.mit.edu	37	14	75266344	75266344	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75266344C>G	uc001xqj.3	+	c.4344C>G	c.(4342-4344)CTC>CTG	p.L1448L	YLPM1_uc001xql.3_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1253					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)										0.071749	-5.087322	37.052942	16	207	KEEP	---	---	---	---	capture		Silent	SNP	75266344	75266344	18069	14	C	G	G	G	366	29	YLPM1	3	3
TTLL5	23093	broad.mit.edu	37	14	76238103	76238103	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76238103C>G	uc010ask.1	+	c.2084C>G	c.(2083-2085)TCT>TGT	p.S695C	TTLL5_uc001xrx.2_Missense_Mutation_p.S681C|TTLL5_uc001xrz.2_Missense_Mutation_p.S256C|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	681					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)										0.059908	-12.873912	31.047877	13	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76238103	76238103	17285	14	C	G	G	G	416	32	TTLL5	3	3
KIAA1409	57578	broad.mit.edu	37	14	94088193	94088193	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94088193C>A	uc001ybv.1	+	c.4149C>A	c.(4147-4149)ATC>ATA	p.I1383I	KIAA1409_uc001ybs.1_Silent_p.I1361I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1538						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.278146	107.28122	113.976012	42	109	KEEP	---	---	---	---	capture		Silent	SNP	94088193	94088193	8539	14	C	A	A	A	395	31	KIAA1409	1	1
KIAA1409	57578	broad.mit.edu	37	14	94120142	94120142	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94120142C>G	uc001ybv.1	+	c.5790C>G	c.(5788-5790)ATC>ATG	p.I1930M	KIAA1409_uc001ybs.1_Missense_Mutation_p.I1908M	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2085						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.062937	-18.458131	38.816843	18	268	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94120142	94120142	8539	14	C	G	G	G	408	32	KIAA1409	3	3
ASB2	51676	broad.mit.edu	37	14	94420759	94420759	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94420759C>A	uc001ycd.2	-	c.382G>T	c.(382-384)GGG>TGG	p.G128W	ASB2_uc001ycc.1_Missense_Mutation_p.G80W|ASB2_uc001yce.1_Missense_Mutation_p.G26W	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	80	ANK 1.				intracellular signal transduction					pancreas(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)										0.263158	13.265768	14.230016	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94420759	94420759	1041	14	C	A	A	A	312	24	ASB2	2	2
SERPINA12	145264	broad.mit.edu	37	14	94955987	94955987	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94955987G>C	uc001ydj.2	-	c.1023C>G	c.(1021-1023)ATC>ATG	p.I341M		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	341					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)						148				0.344828	62.291592	63.520616	20	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94955987	94955987	14577	14	G	C	C	C	473	37	SERPINA12	3	3
ATG2B	55102	broad.mit.edu	37	14	96775859	96775859	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96775859G>A	uc001yfi.2	-	c.4234C>T	c.(4234-4236)CTG>TTG	p.L1412L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1412										ovary(1)|kidney(1)	2		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)										0.053333	-7.665909	8.131802	4	71	KEEP	---	---	---	---	capture		Silent	SNP	96775859	96775859	1113	14	G	A	A	A	425	33	ATG2B	2	2
CHSY1	22856	broad.mit.edu	37	15	101717888	101717888	+	Missense_Mutation	SNP	C	G	G	rs62621399	by1000genomes	TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101717888C>G	uc002bwt.1	-	c.2114G>C	c.(2113-2115)CGA>CCA	p.R705P	CHSY1_uc010usd.1_Missense_Mutation_p.R433P	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	705	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.195652	67.858426	79.763308	27	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101717888	101717888	3546	15	C	G	G	G	403	31	CHSY1	3	3
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22369079C>T	uc010tzu.1	+	c.504C>T	c.(502-504)TTC>TTT	p.F168F	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,	168	Extracellular (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)										0.102273	21.847789	63.464415	27	237	KEEP	---	---	---	---	capture		Silent	SNP	22369079	22369079	11486	15	C	T	T	T	415	32	OR4M2	2	2
ATP10A	57194	broad.mit.edu	37	15	25925268	25925268	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25925268C>T	uc010ayu.2	-	c.3866G>A	c.(3865-3867)AGA>AAA	p.R1289K		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1289	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)						877				0.121212	11.952962	21.232908	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25925268	25925268	1135	15	C	T	T	T	312	24	ATP10A	2	2
HERC2	8924	broad.mit.edu	37	15	28361810	28361810	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28361810C>A	uc001zbj.2	-	c.13609_splice	c.e88+1	p.G4537_splice	HERC2_uc001zbi.2_Splice_Site_SNP_p.G226_splice	NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.117647	5.523157	10.368033	4	30	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	28361810	28361810	7341	15	C	A	A	A	234	18	HERC2	5	2
RYR3	6263	broad.mit.edu	37	15	34102816	34102816	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34102816A>T	uc001zhi.2	+	c.10163A>T	c.(10162-10164)GAG>GTG	p.E3388V	RYR3_uc010bar.2_Missense_Mutation_p.E3383V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3388					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)										0.222222	18.079477	20.636371	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34102816	34102816	14250	15	A	T	T	T	143	11	RYR3	3	3
PGBD4	161779	broad.mit.edu	37	15	34396158	34396158	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34396158C>G	uc001zho.2	+	c.1426C>G	c.(1426-1428)CCT>GCT	p.P476A	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)										0.128205	5.954259	11.211119	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34396158	34396158	12206	15	C	G	G	G	390	30	PGBD4	3	3
AQR	9716	broad.mit.edu	37	15	35192825	35192825	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35192825G>A	uc001ziv.2	-	c.2241C>T	c.(2239-2241)TTC>TTT	p.F747F		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	747					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.310345	48.429061	50.2872	18	40	KEEP	---	---	---	---	capture		Silent	SNP	35192825	35192825	846	15	G	A	A	A	581	45	AQR	2	2
PLA2G4E	123745	broad.mit.edu	37	15	42293397	42293397	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:42293397C>G	uc001zow.1	-	c.544G>C	c.(544-546)GAG>CAG	p.E182Q		NM_001080490	NP_001073959	C9JK77	C9JK77_HUMAN	phospholipase A2, group 4E	182					phospholipid catabolic process						0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)										0.295455	37.766	39.408001	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42293397	42293397	12431	15	C	G	G	G	390	30	PLA2G4E	3	3
CEP152	22995	broad.mit.edu	37	15	49090224	49090224	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49090224G>A	uc001zwz.2	-	c.112C>T	c.(112-114)CCC>TCC	p.P38S	CEP152_uc001zwy.2_Missense_Mutation_p.P38S|CEP152_uc001zxa.1_Missense_Mutation_p.P38S	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	38					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)										0.142857	5.880761	9.32415	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49090224	49090224	3381	15	G	A	A	A	533	41	CEP152	2	2
MYO5A	4644	broad.mit.edu	37	15	52720630	52720630	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52720630C>A	uc002aby.2	-	c.275G>T	c.(274-276)CGC>CTC	p.R92L	MYO5A_uc002abx.3_Missense_Mutation_p.R92L|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	92	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.058824	-9.521867	14.689822	7	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52720630	52720630	10473	15	C	A	A	A	351	27	MYO5A	1	1
KIAA1370	56204	broad.mit.edu	37	15	52901619	52901619	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52901619G>C	uc010ugf.1	-	c.1513C>G	c.(1513-1515)CCA>GCA	p.P505A	KIAA1370_uc002acg.3_Missense_Mutation_p.P498A|KIAA1370_uc002ach.3_Non-coding_Transcript|KIAA1370_uc010bfg.1_Missense_Mutation_p.P410A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	498											0				all cancers(107;0.0803)										0.076923	0.728119	19.776985	8	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52901619	52901619	8535	15	G	C	C	C	533	41	KIAA1370	3	3
MNS1	55329	broad.mit.edu	37	15	56756253	56756253	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56756253C>G	uc002adr.2	-	c.196G>C	c.(196-198)GAG>CAG	p.E66Q	MNS1_uc010bfo.2_5'UTR	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	66	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)										0.086957	3.827979	19.71882	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56756253	56756253	10068	15	C	G	G	G	377	29	MNS1	3	3
AQP9	366	broad.mit.edu	37	15	58476266	58476266	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58476266G>T	uc002aez.2	+	c.820G>T	c.(820-822)GAC>TAC	p.D274Y	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.D209Y	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	274	Cytoplasmic (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)										0.3125	80.11634	83.120222	30	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58476266	58476266	844	15	G	T	T	T	585	45	AQP9	2	2
MYO1E	4643	broad.mit.edu	37	15	59480399	59480399	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59480399C>A	uc002aga.2	-	c.1822G>T	c.(1822-1824)GAA>TAA	p.E608*		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	608	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)										0.320513	74.679833	76.895243	25	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	59480399	59480399	10467	15	C	A	A	A	403	31	MYO1E	5	1
VPS13C	54832	broad.mit.edu	37	15	62221815	62221815	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62221815C>T	uc002agz.2	-	c.6171G>A	c.(6169-6171)CTG>CTA	p.L2057L	VPS13C_uc002aha.2_Silent_p.L2014L|VPS13C_uc002ahb.1_Silent_p.L2057L|VPS13C_uc002ahc.1_Silent_p.L2014L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2057					protein localization					ovary(2)	2														0.285714	37.829507	39.848712	14	35	KEEP	---	---	---	---	capture		Silent	SNP	62221815	62221815	17758	15	C	T	T	T	366	29	VPS13C	2	2
CLPX	10845	broad.mit.edu	37	15	65447416	65447416	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65447416G>T	uc002aom.2	-	c.1315C>A	c.(1315-1317)CTT>ATT	p.L439I	CLPX_uc010uiu.1_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	439					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0														0.346154	23.964587	24.509072	9	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65447416	65447416	3694	15	G	T	T	T	429	33	CLPX	2	2
LINGO1	84894	broad.mit.edu	37	15	77907523	77907523	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:77907523C>A	uc002bct.1	-	c.726G>T	c.(724-726)AAG>AAT	p.K242N	LINGO1_uc002bcu.1_Missense_Mutation_p.K236N	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	242	Extracellular (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.341772	70.69245	72.444084	27	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77907523	77907523	9141	15	C	A	A	A	311	24	LINGO1	2	2
KIAA1024	23251	broad.mit.edu	37	15	79749185	79749185	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79749185C>T	uc002bew.1	+	c.696C>T	c.(694-696)CCC>CCT	p.P232P	KIAA1024_uc010unk.1_Silent_p.P232P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	232						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.084507	1.1941	13.636128	6	65	KEEP	---	---	---	---	capture		Silent	SNP	79749185	79749185	8512	15	C	T	T	T	262	21	KIAA1024	2	2
KIAA1024	23251	broad.mit.edu	37	15	79749266	79749266	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79749266C>G	uc002bew.1	+	c.777C>G	c.(775-777)ATC>ATG	p.I259M	KIAA1024_uc010unk.1_Missense_Mutation_p.I259M	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	259						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.075	-0.090411	14.712709	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79749266	79749266	8512	15	C	G	G	G	408	32	KIAA1024	3	3
BNC1	646	broad.mit.edu	37	15	83926518	83926518	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83926518C>A	uc002bjt.1	-	c.2661G>T	c.(2659-2661)ATG>ATT	p.M887I	BNC1_uc010uos.1_Missense_Mutation_p.M875I	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	887					epidermis development|positive regulation of cell proliferation|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.223684	81.164662	91.837637	34	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83926518	83926518	1499	15	C	A	A	A	273	21	BNC1	2	2
FANCI	55215	broad.mit.edu	37	15	89824528	89824528	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89824528G>T	uc010bnp.1	+	c.1509G>T	c.(1507-1509)GTG>GTT	p.V503V	FANCI_uc002bnm.1_Silent_p.V503V|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Silent_p.V324V|FANCI_uc002bnq.1_5'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	503					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)									1164				0.327586	53.104759	54.633973	19	39	KEEP	---	---	---	---	capture		Silent	SNP	89824528	89824528	5905	15	G	T	T	T	587	46	FANCI	2	2
SV2B	9899	broad.mit.edu	37	15	91832754	91832754	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91832754G>T	uc002bqv.2	+	c.1712G>T	c.(1711-1713)GGC>GTC	p.G571V	SV2B_uc010uqv.1_Missense_Mutation_p.G420V|SV2B_uc002bqu.3_Non-coding_Transcript	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	571	Helical; (Potential).				neurotransmitter transport|transmembrane transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|central_nervous_system(2)	5	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)											0.122222	11.734448	24.16771	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91832754	91832754	15938	15	G	T	T	T	546	42	SV2B	2	2
FAM169B	283777	broad.mit.edu	37	15	98984376	98984376	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:98984376G>A	uc002buk.1	-	c.383C>T	c.(382-384)TCC>TTC	p.S128F		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	128											0														0.096774	4.602746	14.704624	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98984376	98984376	5692	15	G	A	A	A	533	41	FAM169B	2	2
LRRC28	123355	broad.mit.edu	37	15	99828101	99828101	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99828101G>T	uc002bva.1	+	c.330G>T	c.(328-330)CTG>CTT	p.L110L	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Silent_p.L110L|LRRC28_uc010uru.1_Silent_p.L110L|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	110	LRR 4.										0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)											0.107143	5.706668	14.2844	6	50	KEEP	---	---	---	---	capture		Silent	SNP	99828101	99828101	9357	15	G	T	T	T	574	45	LRRC28	2	2
CLCN7	1186	broad.mit.edu	37	16	1510495	1510495	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1510495G>A	uc002clv.2	-	c.518C>T	c.(517-519)TCC>TTC	p.S173F	CLCN7_uc002clw.2_Missense_Mutation_p.S149F	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	173						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(1)	1		Hepatocellular(780;0.0893)												0.230769	6.518605	7.382182	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1510495	1510495	3604	16	G	A	A	A	533	41	CLCN7	2	2
SMG1	23049	broad.mit.edu	37	16	18878006	18878006	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18878006G>A	uc002dfm.2	-	c.3287C>T	c.(3286-3288)TCA>TTA	p.S1096L	SMG1_uc010bwb.2_Missense_Mutation_p.S956L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1096					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.07	-3.859559	15.230519	7	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18878006	18878006	15293	16	G	A	A	A	585	45	SMG1	2	2
DNAH3	55567	broad.mit.edu	37	16	21042461	21042461	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21042461G>T	uc010vbe.1	-	c.5345C>A	c.(5344-5346)TCA>TAA	p.S1782*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1782	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.197368	29.97753	36.465643	15	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21042461	21042461	4786	16	G	T	T	T	585	45	DNAH3	5	2
TSC2	7249	broad.mit.edu	37	16	2105464	2105465	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2105464_2105465GA>TT	uc002con.2	+	c.543_544GA>TT	c.(541-546)GTGAAC>GTTTAC	p.N182Y	TSC2_uc010bsd.2_Missense_Mutation_p.N182Y|TSC2_uc002coo.2_Missense_Mutation_p.N182Y|TSC2_uc010uvv.1_Missense_Mutation_p.N145Y|TSC2_uc010uvw.1_Missense_Mutation_p.N133Y|TSC2_uc002cop.2_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	182	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)								1098				0.130952	15.776669	26.89268	11	73	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	2105464	2105465	17157	16	GA	TT	TT	TT	574	45	TSC2	2	2
DNAH3	55567	broad.mit.edu	37	16	21063028	21063028	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21063028G>T	uc010vbe.1	-	c.4201C>A	c.(4201-4203)CGG>AGG	p.R1401R		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.333333	126.23515	129.55367	45	90	KEEP	---	---	---	---	capture		Silent	SNP	21063028	21063028	4786	16	G	T	T	T	506	39	DNAH3	1	1
PDZD9	255762	broad.mit.edu	37	16	22000025	22000025	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22000025C>G	uc002dka.1	-	c.113G>C	c.(112-114)GGA>GCA	p.G38A		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	100	PDZ.									pancreas(1)	1														0.086207	3.228517	13.28976	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22000025	22000025	12127	16	C	G	G	G	390	30	PDZD9	3	3
COG7	91949	broad.mit.edu	37	16	23430062	23430062	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23430062C>T	uc002dlo.2	-	c.1096G>A	c.(1096-1098)GAA>AAA	p.E366K		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	366					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)										0.090909	1.300885	6.867458	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23430062	23430062	3801	16	C	T	T	T	390	30	COG7	2	2
IL21R	50615	broad.mit.edu	37	16	27460064	27460064	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27460064G>T	uc002doq.1	+	c.1077G>T	c.(1075-1077)GGG>GGT	p.G359G	IL21R_uc002dor.1_Silent_p.G359G|IL21R_uc002dos.1_Silent_p.G359G	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	359	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)	2										423				0.411765	38.74471	38.975445	14	20	KEEP	---	---	---	---	capture		Silent	SNP	27460064	27460064	7972	16	G	T	T	T	548	43	IL21R	2	2
SRRM2	23524	broad.mit.edu	37	16	2812541	2812541	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2812541C>T	uc002crk.2	+	c.2012C>T	c.(2011-2013)TCT>TTT	p.S671F	SRRM2_uc002crj.1_Missense_Mutation_p.S575F|SRRM2_uc002crl.1_Missense_Mutation_p.S671F|SRRM2_uc010bsu.1_Missense_Mutation_p.S575F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	671	Arg-rich.|Ser-rich.				nuclear mRNA splicing, via spliceosome	Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.179348	128.842382	164.438137	66	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2812541	2812541	15683	16	C	T	T	T	416	32	SRRM2	2	2
IL27	246778	broad.mit.edu	37	16	28513453	28513453	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28513453G>T	uc002dqc.2	-	c.306C>A	c.(304-306)GAC>GAA	p.D102E		NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	102					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0														0.181818	7.785754	9.879842	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28513453	28513453	7981	16	G	T	T	T	568	44	IL27	2	2
ATXN2L	11273	broad.mit.edu	37	16	28845423	28845423	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28845423G>C	uc002dqy.2	+	c.2063G>C	c.(2062-2064)CGG>CCG	p.R688P	ATXN2L_uc002drb.2_Missense_Mutation_p.R688P|ATXN2L_uc002dra.2_Missense_Mutation_p.R688P|ATXN2L_uc002dqz.2_Missense_Mutation_p.R688P|ATXN2L_uc002drc.2_Missense_Mutation_p.R688P|ATXN2L_uc010vdb.1_Missense_Mutation_p.R694P|ATXN2L_uc002dre.2_Missense_Mutation_p.R688P|ATXN2L_uc002drf.2_Missense_Mutation_p.R97P|ATXN2L_uc002drg.2_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform C	688						membrane				ovary(1)	1														0.168067	35.915335	48.37442	20	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28845423	28845423	1232	16	G	C	C	C	507	39	ATXN2L	3	3
TAOK2	9344	broad.mit.edu	37	16	29994517	29994517	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29994517C>G	uc010bzm.1	+	c.1145C>G	c.(1144-1146)TCA>TGA	p.S382*	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dva.1_Nonsense_Mutation_p.S375*|TAOK2_uc002dvb.1_Nonsense_Mutation_p.S375*|TAOK2_uc002dvc.1_Nonsense_Mutation_p.S375*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.S202*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	375					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1										143				0.107527	11.080671	25.2963	10	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29994517	29994517	16069	16	C	G	G	G	377	29	TAOK2	5	3
SEPT1	1731	broad.mit.edu	37	16	30393197	30393197	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30393197C>T	uc002dxy.2	-	c.189G>A	c.(187-189)TTG>TTA	p.L63L	SEPT1_uc002dxx.2_Intron|SEPT1_uc010veq.1_Silent_p.L110L	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	septin 1	63					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			ovary(1)	1			Colorectal(24;0.193)											0.286325	161.985004	171.602333	67	167	KEEP	---	---	---	---	capture		Silent	SNP	30393197	30393197	14545	16	C	T	T	T	376	29	SEPT1	2	2
ZNF263	10127	broad.mit.edu	37	16	3340406	3340406	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3340406C>T	uc002cuq.2	+	c.1900C>T	c.(1900-1902)CAT>TAT	p.H634Y	ZNF263_uc010uww.1_Missense_Mutation_p.H282Y|ZNF263_uc002cur.2_Missense_Mutation_p.H282Y	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	634	C2H2-type 8.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.173913	21.954629	28.885668	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3340406	3340406	18395	16	C	T	T	T	377	29	ZNF263	2	2
MYLK3	91807	broad.mit.edu	37	16	46763549	46763549	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46763549G>T	uc002eei.3	-	c.1619C>A	c.(1618-1620)CCA>CAA	p.P540Q	MYLK3_uc010vge.1_Missense_Mutation_p.P199Q|MYLK3_uc002eej.1_Missense_Mutation_p.P199Q	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	540	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.4	82.684855	83.297325	28	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46763549	46763549	10453	16	G	T	T	T	611	47	MYLK3	2	2
ABCC12	94160	broad.mit.edu	37	16	48142414	48142414	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48142414C>G	uc002efc.1	-	c.2308G>C	c.(2308-2310)GAA>CAA	p.E770Q	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	770						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.152542	19.034908	25.851765	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48142414	48142414	53	16	C	G	G	G	377	29	ABCC12	3	3
PPL	5493	broad.mit.edu	37	16	4933615	4933615	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4933615C>G	uc002cyd.1	-	c.5041G>C	c.(5041-5043)GAC>CAC	p.D1681H		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1681	Plectin 1.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4														0.091667	8.432789	28.585392	11	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4933615	4933615	12769	16	C	G	G	G	377	29	PPL	3	3
ADCY7	113	broad.mit.edu	37	16	50324570	50324570	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50324570A>T	uc002egd.1	+	c.374A>T	c.(373-375)CAG>CTG	p.Q125L	ADCY7_uc002egb.1_Missense_Mutation_p.Q125L|ADCY7_uc002egc.1_Missense_Mutation_p.Q125L	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	125	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding				0		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)									0.642857	28.168054	28.417774	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50324570	50324570	300	16	A	T	T	T	91	7	ADCY7	3	3
SALL1	6299	broad.mit.edu	37	16	51173419	51173419	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51173419A>T	uc010vgs.1	-	c.2714T>A	c.(2713-2715)GTG>GAG	p.V905E	SALL1_uc010vgr.1_Missense_Mutation_p.V808E|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	905					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.333333	68.779801	70.610323	25	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51173419	51173419	14290	16	A	T	T	T	78	6	SALL1	3	3
CHD9	80205	broad.mit.edu	37	16	53289614	53289614	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53289614G>T	uc002ehb.2	+	c.4132G>T	c.(4132-4134)GAT>TAT	p.D1378Y	CHD9_uc002egy.2_Missense_Mutation_p.D1378Y|CHD9_uc002ehc.2_Missense_Mutation_p.D1378Y|CHD9_uc002ehf.2_Missense_Mutation_p.D492Y|CHD9_uc002ehd.2_Missense_Mutation_p.D904Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1378					cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.115607	16.575569	41.760981	20	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53289614	53289614	3466	16	G	T	T	T	533	41	CHD9	2	2
SLC6A2	6530	broad.mit.edu	37	16	55690840	55690840	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55690840C>A	uc002eif.2	+	c.234C>A	c.(232-234)AAC>AAA	p.N78K	SLC6A2_uc010ccd.2_Missense_Mutation_p.N78K|SLC6A2_uc002eig.2_Missense_Mutation_p.N78K|SLC6A2_uc002eih.2_Missense_Mutation_p.N78K	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	78	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.226891	65.437326	73.540128	27	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55690840	55690840	15180	16	C	A	A	A	246	19	SLC6A2	1	1
RSPRY1	89970	broad.mit.edu	37	16	57272859	57272859	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57272859G>C	uc002elb.2	+	c.1703G>C	c.(1702-1704)AGA>ACA	p.R568T	RSPRY1_uc002elc.2_Missense_Mutation_p.R568T|RSPRY1_uc002eld.2_Missense_Mutation_p.R568T	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	568						extracellular region	zinc ion binding			ovary(1)	1														0.12	5.208999	8.748333	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57272859	57272859	14193	16	G	C	C	C	429	33	RSPRY1	3	3
CCDC135	84229	broad.mit.edu	37	16	57732064	57732064	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57732064C>A	uc002emi.2	+	c.203C>A	c.(202-204)CCG>CAG	p.P68Q	CCDC135_uc002emj.2_Missense_Mutation_p.P68Q|CCDC135_uc002emk.2_Missense_Mutation_p.P68Q	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	68						cytoplasm				central_nervous_system(1)	1														0.16	5.768273	8.556192	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57732064	57732064	2889	16	C	A	A	A	299	23	CCDC135	1	1
CNGB1	1258	broad.mit.edu	37	16	57949204	57949204	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57949204G>C	uc002emt.2	-	c.2253C>G	c.(2251-2253)CTC>CTG	p.L751L	CNGB1_uc010cdh.2_Silent_p.L745L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	751	Helical; Name=H3; (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.090909	1.900604	7.466938	3	30	KEEP	---	---	---	---	capture		Silent	SNP	57949204	57949204	3738	16	G	C	C	C	418	33	CNGB1	3	3
CNOT1	23019	broad.mit.edu	37	16	58608603	58608603	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58608603C>G	uc002env.2	-	c.1889G>C	c.(1888-1890)GGA>GCA	p.G630A	CNOT1_uc002enw.2_Non-coding_Transcript|CNOT1_uc002enu.3_Missense_Mutation_p.G630A|CNOT1_uc002enx.2_Missense_Mutation_p.G630A|CNOT1_uc002enz.1_Missense_Mutation_p.G59A	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	630					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)										0.217949	46.043426	51.754726	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58608603	58608603	3755	16	C	G	G	G	390	30	CNOT1	3	3
CDH8	1006	broad.mit.edu	37	16	61687880	61687880	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61687880C>T	uc002eog.1	-	c.2032G>A	c.(2032-2034)GAG>AAG	p.E678K		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	678	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.221239	61.112768	69.195494	25	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61687880	61687880	3245	16	C	T	T	T	416	32	CDH8	2	2
DPEP3	64180	broad.mit.edu	37	16	68009885	68009885	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68009885G>T	uc002evc.3	-	c.1325C>A	c.(1324-1326)GCG>GAG	p.A442E	DPEP3_uc010cex.2_Missense_Mutation_p.A441E	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	417					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)										0.129032	5.58489	9.734209	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68009885	68009885	4899	16	G	T	T	T	494	38	DPEP3	1	1
ZNF23	7571	broad.mit.edu	37	16	71482163	71482163	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482163T>A	uc002fai.2	-	c.1882A>T	c.(1882-1884)AGA>TGA	p.R628*	ZNF23_uc002fad.2_Nonsense_Mutation_p.R531*|ZNF23_uc002fae.2_Nonsense_Mutation_p.R531*|ZNF23_uc002faf.2_Nonsense_Mutation_p.R589*|ZNF23_uc010vmf.1_Nonsense_Mutation_p.R531*|ZNF23_uc002fag.2_Nonsense_Mutation_p.R531*|ZNF23_uc002fah.2_Nonsense_Mutation_p.R589*	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	589	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.348993	152.452634	155.451904	52	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71482163	71482163	18374	16	T	A	A	A	713	55	ZNF23	5	3
ZNF23	7571	broad.mit.edu	37	16	71482621	71482621	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482621C>T	uc002fai.2	-	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	ZNF23_uc002fad.2_Missense_Mutation_p.R378Q|ZNF23_uc002fae.2_Missense_Mutation_p.R378Q|ZNF23_uc002faf.2_Missense_Mutation_p.R436Q|ZNF23_uc010vmf.1_Missense_Mutation_p.R378Q|ZNF23_uc002fag.2_Missense_Mutation_p.R378Q|ZNF23_uc002fah.2_Missense_Mutation_p.R436Q	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	436	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.245455	70.481054	76.964671	27	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71482621	71482621	18374	16	C	T	T	T	299	23	ZNF23	1	1
ZFHX3	463	broad.mit.edu	37	16	72831467	72831467	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72831467G>A	uc002fck.2	-	c.5114C>T	c.(5113-5115)TCA>TTA	p.S1705L	ZFHX3_uc002fcl.2_Missense_Mutation_p.S791L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1705					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription repressor activity|transcription repressor activity|zinc ion binding			ovary(2)	2		Ovarian(137;0.13)												0.09322	-1.295845	18.501797	11	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72831467	72831467	18222	16	G	A	A	A	585	45	ZFHX3	2	2
GLG1	2734	broad.mit.edu	37	16	74537461	74537461	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74537461G>A	uc002fcx.2	-	c.742C>T	c.(742-744)CTG>TTG	p.L248L	GLG1_uc002fcy.3_Silent_p.L248L|GLG1_uc002fcw.3_Silent_p.L237L|GLG1_uc002fcz.3_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 1	248	Extracellular (Potential).|Cys-rich GLG1 3.					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2										1034				0.09375	3.200756	13.82344	6	58	KEEP	---	---	---	---	capture		Silent	SNP	74537461	74537461	6704	16	G	A	A	A	425	33	GLG1	2	2
PKD1L2	114780	broad.mit.edu	37	16	81228586	81228586	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81228586G>T	uc002fgh.1	-	c.1588C>A	c.(1588-1590)CTG>ATG	p.L530M	PKD1L2_uc002fgj.2_Missense_Mutation_p.L530M	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	530	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.230769	22.153773	24.744994	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81228586	81228586	12389	16	G	T	T	T	451	35	PKD1L2	2	2
HSD17B2	3294	broad.mit.edu	37	16	82131727	82131727	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82131727C>G	uc002fgv.2	+	c.850C>G	c.(850-852)CTG>GTG	p.L284V		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	284					oxidation-reduction process|response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)									0.076923	0.95172	24.765749	10	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82131727	82131727	7679	16	C	G	G	G	415	32	HSD17B2	3	3
MYH8	4626	broad.mit.edu	37	17	10322308	10322308	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10322308G>A	uc002gmm.2	-	c.250C>T	c.(250-252)CCT>TCT	p.P84S		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	84	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.157895	17.706229	24.012529	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10322308	10322308	10436	17	G	A	A	A	559	43	MYH8	2	2
MYH4	4622	broad.mit.edu	37	17	10360771	10360771	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10360771A>T	uc002gmn.2	-	c.1863T>A	c.(1861-1863)GCT>GCA	p.A621A		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	621	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														0.072727	-1.741807	8.586872	4	51	KEEP	---	---	---	---	capture		Silent	SNP	10360771	10360771	10432	17	A	T	T	T	28	3	MYH4	3	3
MYH4	4622	broad.mit.edu	37	17	10366672	10366672	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10366672G>A	uc002gmn.2	-	c.788C>T	c.(787-789)TCT>TTT	p.S263F		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	263	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														0.088235	1.903015	13.55421	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10366672	10366672	10432	17	G	A	A	A	429	33	MYH4	2	2
MYH4	4622	broad.mit.edu	37	17	10367998	10367998	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10367998G>A	uc002gmn.2	-	c.533C>T	c.(532-534)ACT>ATT	p.T178I		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	178	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														0.138889	8.451313	12.987296	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10367998	10367998	10432	17	G	A	A	A	520	40	MYH4	1	1
ATPAF2	91647	broad.mit.edu	37	17	17931576	17931576	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17931576C>T	uc002gse.1	-	c.294G>A	c.(292-294)CAG>CAA	p.Q98Q	ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_Non-coding_Transcript|ATPAF2_uc010cps.1_5'Flank|ATPAF2_uc010vxf.1_Silent_p.Q98Q	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	98					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)													0.25	16.337964	17.701736	6	18	KEEP	---	---	---	---	capture		Silent	SNP	17931576	17931576	1220	17	C	T	T	T	311	24	ATPAF2	2	2
FAM83G	644815	broad.mit.edu	37	17	18881221	18881221	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18881221G>T	uc002guw.2	-	c.1758C>A	c.(1756-1758)GAC>GAA	p.D586E	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	586	Poly-Asp.									ovary(1)	1														0.3	8.521412	8.878599	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18881221	18881221	5865	17	G	T	T	T	464	36	FAM83G	2	2
SLC6A4	6532	broad.mit.edu	37	17	28545949	28545949	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28545949C>A	uc002hey.3	-	c.344G>T	c.(343-345)GGG>GTG	p.G115V		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	115					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|integral to plasma membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			ovary(1)	1					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)									0.366906	139.510634	141.665911	51	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28545949	28545949	15183	17	C	A	A	A	286	22	SLC6A4	2	2
ACCN1	40	broad.mit.edu	37	17	32483252	32483252	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32483252G>T	uc002hhu.2	-	c.300C>A	c.(298-300)TCC>TCA	p.S100S		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	100	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)									0.140845	12.905814	21.747403	10	61	KEEP	---	---	---	---	capture		Silent	SNP	32483252	32483252	129	17	G	T	T	T	600	47	ACCN1	2	2
ZNF830	91603	broad.mit.edu	37	17	33288891	33288891	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33288891G>A	uc002hih.3	+	c.306G>A	c.(304-306)AAG>AAA	p.K102K	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	102					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)												0.064935	-3.889998	11.25254	5	72	KEEP	---	---	---	---	capture		Silent	SNP	33288891	33288891	18783	17	G	A	A	A	425	33	ZNF830	2	2
AP2B1	163	broad.mit.edu	37	17	34044310	34044310	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34044310C>A	uc002hjq.2	+	c.2723C>A	c.(2722-2724)ACT>AAT	p.T908N	AP2B1_uc002hjr.2_Missense_Mutation_p.T894N|AP2B1_uc010wci.1_Missense_Mutation_p.T870N|AP2B1_uc002hjs.2_Missense_Mutation_p.T837N|AP2B1_uc002hjt.2_Missense_Mutation_p.T908N|AP2B1_uc010ctv.2_Missense_Mutation_p.T908N|AP2B1_uc010wcj.1_Missense_Mutation_p.T645N	NM_001030006	NP_001025177	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	894	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)										0.06338	-11.935775	16.311486	9	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34044310	34044310	751	17	C	A	A	A	260	20	AP2B1	2	2
ACACA	31	broad.mit.edu	37	17	35591928	35591928	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35591928G>C	uc002hno.2	-	c.3208C>G	c.(3208-3210)CAA>GAA	p.Q1070E	ACACA_uc002hnk.2_Missense_Mutation_p.Q955E|ACACA_uc002hnl.2_Missense_Mutation_p.Q975E|ACACA_uc002hnm.2_Missense_Mutation_p.Q1033E|ACACA_uc002hnn.2_Missense_Mutation_p.Q1033E|ACACA_uc010cuz.2_Missense_Mutation_p.Q1033E	NM_198834	NP_942131	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 1	1033					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)				742				0.12381	19.597279	34.136256	13	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35591928	35591928	107	17	G	C	C	C	585	45	ACACA	3	3
SYNRG	11276	broad.mit.edu	37	17	35945442	35945442	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35945442C>T	uc002hoa.2	-	c.468G>A	c.(466-468)GTG>GTA	p.V156V	SYNRG_uc010wde.1_Silent_p.V156V|SYNRG_uc010wdf.1_Silent_p.V156V|SYNRG_uc002hoc.2_Silent_p.V155V|SYNRG_uc002hoe.2_Silent_p.V156V|SYNRG_uc002hod.2_Silent_p.V156V|SYNRG_uc010wdg.1_Silent_p.V156V|SYNRG_uc002hob.2_Silent_p.V156V|SYNRG_uc002hog.1_Silent_p.V189V|SYNRG_uc010wdh.1_Silent_p.V156V	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	156					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2														0.048485	-19.241798	16.523126	8	157	KEEP	---	---	---	---	capture		Silent	SNP	35945442	35945442	15981	17	C	T	T	T	366	29	SYNRG	2	2
SRCIN1	80725	broad.mit.edu	37	17	36709061	36709061	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36709061C>T	uc002hqd.2	-	c.2232G>A	c.(2230-2232)CAG>CAA	p.Q744Q	SRCIN1_uc002hqf.1_Silent_p.Q616Q|SRCIN1_uc002hqe.2_Silent_p.Q598Q|SRCIN1_uc002hqg.2_Silent_p.Q50Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	616	Potential.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0														0.1	4.502372	14.095226	6	54	KEEP	---	---	---	---	capture		Silent	SNP	36709061	36709061	15650	17	C	T	T	T	415	32	SRCIN1	2	2
LASP1	3927	broad.mit.edu	37	17	37074947	37074947	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37074947G>A	uc002hra.2	+	c.702G>A	c.(700-702)CAG>CAA	p.Q234Q	LASP1_uc010cvq.2_Missense_Mutation_p.R112K|LASP1_uc010wdz.1_Silent_p.Q178Q	NM_006148	NP_006139	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	234	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding				0										114				0.073394	-3.181215	17.208485	8	101	KEEP	---	---	---	---	capture		Silent	SNP	37074947	37074947	8960	17	G	A	A	A	425	33	LASP1	2	2
CACNB1	782	broad.mit.edu	37	17	37343840	37343840	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37343840T>C	uc002hrm.1	-	c.306A>G	c.(304-306)GCA>GCG	p.A102A	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.A102A|CACNB1_uc002hro.2_Silent_p.A102A|CACNB1_uc002hrp.1_Silent_p.A102A|CACNB1_uc010web.1_Silent_p.A55A	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	102	SH3.				axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	Esophageal Squamous(5;100 366 38393 41452 45827)								0.047368	-24.777064	16.685882	9	181	KEEP	---	---	---	---	capture		Silent	SNP	37343840	37343840	2668	17	T	C	C	C	652	51	CACNB1	4	4
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38345517C>A	uc010cwu.1	+	c.386C>A	c.(385-387)TCA>TAA	p.S129*	RAPGEFL1_uc010wfd.1_Nonsense_Mutation_p.S65*	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(28;274 750 6870 14218 42203)								0.051546	-23.919606	17.424177	10	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38345517	38345517	13509	17	C	A	A	A	377	29	RAPGEFL1	5	2
RARA	5914	broad.mit.edu	37	17	38487575	38487575	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38487575C>G	uc002huk.1	+	c.105C>G	c.(103-105)CTC>CTG	p.L35L	RARA_uc002hul.3_Silent_p.L35L|RARA_uc010wfe.1_Silent_p.L35L	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	35	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of gene-specific transcription|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene-specific transcription|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cell surface|cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)					272				0.072727	-0.736301	9.585797	4	51	KEEP	---	---	---	---	capture		Silent	SNP	38487575	38487575	13512	17	C	G	G	G	405	32	RARA	3	3
KRT25	147183	broad.mit.edu	37	17	38907272	38907272	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38907272A>T	uc002hve.2	-	c.891T>A	c.(889-891)AAT>AAA	p.N297K		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	297	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.0625	-6.722893	15.57805	7	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38907272	38907272	8777	17	A	T	T	T	102	8	KRT25	3	3
KRT40	125115	broad.mit.edu	37	17	39138624	39138624	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39138624C>T	uc010cxh.1	-	c.622G>A	c.(622-624)GAT>AAT	p.D208N	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	208	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)												0.06338	-9.541137	18.641454	9	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39138624	39138624	8793	17	C	T	T	T	377	29	KRT40	2	2
KRT33B	3884	broad.mit.edu	37	17	39521737	39521737	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39521737C>T	uc002hwl.2	-	c.657G>A	c.(655-657)GTG>GTA	p.V219V		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	219	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.3125	82.41993	85.421888	30	66	KEEP	---	---	---	---	capture		Silent	SNP	39521737	39521737	8785	17	C	T	T	T	262	21	KRT33B	2	2
KCNH4	23415	broad.mit.edu	37	17	40327635	40327635	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40327635G>C	uc002hzb.2	-	c.949C>G	c.(949-951)CTG>GTG	p.L317V		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	317	Helical; Name=Segment S3; (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		NSCLC(117;707 1703 2300 21308 31858)								0.070093	-5.855201	34.973996	15	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40327635	40327635	8339	17	G	C	C	C	425	33	KCNH4	3	3
COASY	80347	broad.mit.edu	37	17	40716076	40716076	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40716076C>T	uc010cyj.2	+	c.885C>T	c.(883-885)GTC>GTT	p.V295V	COASY_uc002hzz.2_Silent_p.V266V|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Silent_p.V266V|COASY_uc002iac.2_Silent_p.V266V|COASY_uc002iae.2_5'UTR	NM_001042532	NP_001035997	Q13057	COASY_HUMAN	coenzyme A synthase isoform c	266	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)										0.185185	8.154272	10.670841	5	22	KEEP	---	---	---	---	capture		Silent	SNP	40716076	40716076	3790	17	C	T	T	T	366	29	COASY	2	2
ANKFY1	51479	broad.mit.edu	37	17	4085565	4085565	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4085565C>A	uc002fxn.2	-	c.2158G>T	c.(2158-2160)GGA>TGA	p.G720*	ANKFY1_uc002fxo.2_Nonsense_Mutation_p.G679*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.G677*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.G620*|ANKFY1_uc002fxq.1_Nonsense_Mutation_p.G678*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	678	ANK 10.					endosome membrane	protein binding|zinc ion binding			ovary(2)	2														0.274336	77.171275	82.358396	31	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4085565	4085565	629	17	C	A	A	A	312	24	ANKFY1	5	2
BRCA1	672	broad.mit.edu	37	17	41199690	41199690	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41199690C>G	uc002ict.2	-	c.5500G>C	c.(5500-5502)GAT>CAT	p.D1834H	BRCA1_uc010whp.1_Missense_Mutation_p.D662H|BRCA1_uc010whl.1_Missense_Mutation_p.D709H|BRCA1_uc010whm.1_Missense_Mutation_p.D123H|BRCA1_uc002icp.3_Missense_Mutation_p.D1742H|BRCA1_uc002icu.2_Missense_Mutation_p.R684T|BRCA1_uc010cyx.2_Missense_Mutation_p.D1766H|BRCA1_uc010whn.1_Missense_Mutation_p.D304H|BRCA1_uc010who.1_Missense_Mutation_p.D31H|BRCA1_uc002icq.2_Missense_Mutation_p.D1813H	NM_007300	NP_009231	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 2	1813	BRCT 2.				androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein ubiquitination|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription activator activity|transcription coactivator activity|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(17)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|lung(1)	45		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)						296	TCGA Ovarian(2;0.000030)			0.059322	-7.274994	16.708502	7	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41199690	41199690	1529	17	C	G	G	G	416	32	BRCA1	3	3
ETV4	2118	broad.mit.edu	37	17	41613836	41613836	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41613836C>T	uc002idw.2	-	c.214G>A	c.(214-216)GAC>AAC	p.D72N	ETV4_uc010wih.1_Missense_Mutation_p.D72N|ETV4_uc010czh.2_Missense_Mutation_p.D72N|ETV4_uc010wii.1_Missense_Mutation_p.D33N|ETV4_uc002idx.2_Missense_Mutation_p.D72N|ETV4_uc010wij.1_Missense_Mutation_p.D33N|ETV4_uc002idy.1_Missense_Mutation_p.D33N	NM_001986	NP_001977	P43268	ETV4_HUMAN	ets variant gene 4 (E1A enhancer binding	72	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		EWSR1/ETV4(6)	bone(4)|soft_tissue(2)	6		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		Esophageal Squamous(116;1540 1611 12927 31103 34118)				106				0.047761	-41.288177	31.647868	16	319	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41613836	41613836	5474	17	C	T	T	T	416	32	ETV4	2	2
GJC1	10052	broad.mit.edu	37	17	42882276	42882276	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42882276G>A	uc002ihj.2	-	c.910C>T	c.(910-912)CTG>TTG	p.L304L	GJC1_uc002ihk.2_Silent_p.L304L|GJC1_uc002ihl.2_Silent_p.L304L|GJC1_uc010czx.2_Silent_p.L304L|GJC1_uc010czy.1_Silent_p.L165L	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	304	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)												0.044444	-17.664012	12.311211	6	129	KEEP	---	---	---	---	capture		Silent	SNP	42882276	42882276	6682	17	G	A	A	A	464	36	GJC1	2	2
HEXIM1	10614	broad.mit.edu	37	17	43227077	43227077	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43227077G>A	uc002iig.2	+	c.520G>A	c.(520-522)GAG>AAG	p.E174K		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	174	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1												OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.081633	-0.640387	8.099835	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43227077	43227077	7359	17	G	A	A	A	429	33	HEXIM1	2	2
ITGB3	3690	broad.mit.edu	37	17	45384961	45384961	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45384961C>T	uc002ilj.2	+	c.2259C>T	c.(2257-2259)TTC>TTT	p.F753F	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	753	Cytoplasmic (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)									0.080645	-0.397351	21.788632	10	114	KEEP	---	---	---	---	capture		Silent	SNP	45384961	45384961	8199	17	C	T	T	T	402	31	ITGB3	1	1
MRPL10	124995	broad.mit.edu	37	17	45904481	45904481	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45904481C>G	uc002ilz.2	-	c.312G>C	c.(310-312)CTG>CTC	p.L104L	MRPL10_uc010wky.1_Silent_p.L65L|MRPL10_uc002ily.2_Silent_p.L114L	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	104					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1														0.123894	41.460171	72.705439	28	198	KEEP	---	---	---	---	capture		Silent	SNP	45904481	45904481	10168	17	C	G	G	G	366	29	MRPL10	3	3
SKAP1	8631	broad.mit.edu	37	17	46262170	46262170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46262170C>A	uc002ini.1	-	c.482G>T	c.(481-483)GGT>GTT	p.G161V	SKAP1_uc002inj.1_Missense_Mutation_p.G161V|SKAP1_uc010dbd.1_Missense_Mutation_p.G67V|SKAP1_uc010dbe.1_Missense_Mutation_p.G161V	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	161	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding|SH3/SH2 adaptor activity|transcription activator activity				0														0.091837	4.850767	37.700766	18	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46262170	46262170	14850	17	C	A	A	A	234	18	SKAP1	2	2
HOXB3	3213	broad.mit.edu	37	17	46628303	46628303	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46628303C>A	uc002inn.2	-	c.689G>T	c.(688-690)CGG>CTG	p.R230L	HOXB3_uc010wlm.1_Missense_Mutation_p.R157L|HOXB3_uc010dbf.2_Missense_Mutation_p.R230L|HOXB3_uc010dbg.2_Missense_Mutation_p.R230L|HOXB3_uc002ino.2_Missense_Mutation_p.R230L|HOXB3_uc010wlk.1_Missense_Mutation_p.R98L|HOXB3_uc010wll.1_Missense_Mutation_p.R157L	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	230	Homeobox.				angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.140845	51.538806	78.025113	30	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46628303	46628303	7594	17	C	A	A	A	299	23	HOXB3	1	1
IGF2BP1	10642	broad.mit.edu	37	17	47076515	47076515	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47076515G>T	uc002iom.2	+	c.220G>T	c.(220-222)GTG>TTG	p.V74L	IGF2BP1_uc010dbj.2_Missense_Mutation_p.V74L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	74	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.136364	4.709664	7.526784	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47076515	47076515	7874	17	G	T	T	T	572	44	IGF2BP1	2	2
GNGT2	2793	broad.mit.edu	37	17	47284225	47284225	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47284225T>G	uc002ioo.1	-	c.104A>C	c.(103-105)GAA>GCA	p.E35A		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	35					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)											0.073059	-4.978244	36.148432	16	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47284225	47284225	6803	17	T	G	G	G	806	62	GNGT2	4	4
ITGA3	3675	broad.mit.edu	37	17	48148264	48148264	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48148264G>T	uc010dbm.2	+	c.721G>T	c.(721-723)GAC>TAC	p.D241Y	ITGA3_uc010dbl.2_Missense_Mutation_p.D241Y	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	241	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.118182	13.466014	29.165481	13	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48148264	48148264	8181	17	G	T	T	T	533	41	ITGA3	2	2
ITGA3	3675	broad.mit.edu	37	17	48151853	48151853	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48151853C>G	uc010dbm.2	+	c.1424C>G	c.(1423-1425)CCC>CGC	p.P475R	ITGA3_uc010dbl.2_Missense_Mutation_p.P475R	NM_005501	NP_005492	P26006	ITA3_HUMAN	integrin alpha 3 isoform b precursor	475	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3														0.090909	1.800624	7.367095	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48151853	48151853	8181	17	C	G	G	G	286	22	ITGA3	3	3
CACNA1G	8913	broad.mit.edu	37	17	48646276	48646276	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48646276G>A	uc002irk.1	+	c.288G>A	c.(286-288)GTG>GTA	p.V96V	CACNA1G_uc002iri.1_Silent_p.V96V|CACNA1G_uc002irj.1_Silent_p.V96V|CACNA1G_uc002irl.1_Silent_p.V96V|CACNA1G_uc002irm.1_Silent_p.V96V|CACNA1G_uc002irn.1_Silent_p.V96V|CACNA1G_uc002iro.1_Silent_p.V96V|CACNA1G_uc002irp.1_Silent_p.V96V|CACNA1G_uc002irq.1_Silent_p.V96V|CACNA1G_uc002irr.1_Silent_p.V96V|CACNA1G_uc002irs.1_Silent_p.V96V|CACNA1G_uc002irt.1_Silent_p.V96V|CACNA1G_uc002irv.1_Silent_p.V96V|CACNA1G_uc002irw.1_Silent_p.V96V|CACNA1G_uc002iru.1_Silent_p.V96V|CACNA1G_uc002irx.1_Silent_p.V9V|CACNA1G_uc002iry.1_Silent_p.V9V|CACNA1G_uc002irz.1_Silent_p.V9V|CACNA1G_uc002isa.1_Silent_p.V9V|CACNA1G_uc002isb.1_Silent_p.V9V|CACNA1G_uc002isc.1_Silent_p.V9V|CACNA1G_uc002isd.1_Silent_p.V9V|CACNA1G_uc002ise.1_Silent_p.V9V|CACNA1G_uc002isf.1_Silent_p.V9V|CACNA1G_uc002isg.1_Silent_p.V9V|CACNA1G_uc002ish.1_Silent_p.V9V|CACNA1G_uc002isi.1_Silent_p.V9V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	96	Helical; Name=S1 of repeat I; (Potential).|I.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)									0.115942	6.947719	16.983845	8	61	KEEP	---	---	---	---	capture		Silent	SNP	48646276	48646276	2660	17	G	A	A	A	574	45	CACNA1G	2	2
USP6	9098	broad.mit.edu	37	17	5042598	5042598	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5042598G>T	uc002gau.1	+	c.1127G>T	c.(1126-1128)CGT>CTT	p.R376L	USP6_uc002gav.1_Missense_Mutation_p.R376L|USP6_uc010ckz.1_Missense_Mutation_p.R59L	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	376					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.3	17.377806	18.072535	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5042598	5042598	17650	17	G	T	T	T	520	40	USP6	1	1
KIF2B	84643	broad.mit.edu	37	17	51901222	51901222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901222C>A	uc002iua.2	+	c.828C>A	c.(826-828)AAC>AAA	p.N276K		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	276	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.216216	36.997328	42.471671	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901222	51901222	8609	17	C	A	A	A	246	19	KIF2B	1	1
KIF2B	84643	broad.mit.edu	37	17	51901871	51901871	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901871C>A	uc002iua.2	+	c.1477C>A	c.(1477-1479)CCA>ACA	p.P493T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	493					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.102041	3.536522	11.275899	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51901871	51901871	8609	17	C	A	A	A	286	22	KIF2B	2	2
TMEM100	55273	broad.mit.edu	37	17	53798105	53798105	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:53798105C>T	uc002iuj.3	-	c.327G>A	c.(325-327)GTG>GTA	p.V109V	TMEM100_uc002iuk.3_Silent_p.V109V	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	109						integral to membrane					0														0.169291	77.750003	104.077868	43	211	KEEP	---	---	---	---	capture		Silent	SNP	53798105	53798105	16545	17	C	T	T	T	366	29	TMEM100	2	2
ANKFN1	162282	broad.mit.edu	37	17	54559908	54559908	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54559908G>A	uc002iun.1	+	c.2292G>A	c.(2290-2292)TAG>TAA	p.*764*		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	764										large_intestine(1)|ovary(1)	2														0.059603	-12.649443	18.00097	9	142	KEEP	---	---	---	---	capture		Silent	SNP	54559908	54559908	628	17	G	A	A	A	425	33	ANKFN1	2	2
RNF43	54894	broad.mit.edu	37	17	56434993	56434993	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56434993G>A	uc002iwf.2	-	c.2144C>T	c.(2143-2145)CCA>CTA	p.P715L	RNF43_uc010wnv.1_Missense_Mutation_p.P674L|RNF43_uc002iwh.3_Missense_Mutation_p.P715L|RNF43_uc002iwg.3_Missense_Mutation_p.P715L|RNF43_uc010dcw.2_Missense_Mutation_p.P588L	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	715	Pro-rich.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.184615	64.357965	82.617013	36	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56434993	56434993	13974	17	G	A	A	A	611	47	RNF43	2	2
MTMR4	9110	broad.mit.edu	37	17	56572638	56572638	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56572638C>G	uc002iwj.2	-	c.2865G>C	c.(2863-2865)CAG>CAC	p.Q955H		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	955						cytoplasm|membrane	protein tyrosine phosphatase activity|zinc ion binding			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.088889	2.227791	17.601458	8	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56572638	56572638	10339	17	C	G	G	G	415	32	MTMR4	3	3
TEX14	56155	broad.mit.edu	37	17	56657049	56657049	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56657049G>A	uc010dcz.1	-	c.3353C>T	c.(3352-3354)GCA>GTA	p.A1118V	TEX14_uc002iwr.1_Missense_Mutation_p.A1112V|TEX14_uc002iws.1_Missense_Mutation_p.A1072V|TEX14_uc010dda.1_Missense_Mutation_p.A852V	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1118					protein phosphorylation	cytoplasm	ATP binding|protein kinase activity			stomach(4)|ovary(3)|large_intestine(1)|lung(1)|skin(1)|pancreas(1)	11	Medulloblastoma(34;0.127)|all_neural(34;0.237)									598				0.172414	17.710139	23.595326	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56657049	56657049	16305	17	G	A	A	A	598	46	TEX14	2	2
PPM1E	22843	broad.mit.edu	37	17	57057364	57057364	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57057364G>A	uc002iwx.2	+	c.1240G>A	c.(1240-1242)GGG>AGG	p.G414R	PPM1E_uc010ddd.2_Missense_Mutation_p.G177R	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	423	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)							128				0.088608	1.261685	14.778926	7	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57057364	57057364	12773	17	G	A	A	A	611	47	PPM1E	2	2
CLTC	1213	broad.mit.edu	37	17	57737831	57737831	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57737831G>C	uc002ixr.1	+	c.1061G>C	c.(1060-1062)AGA>ACA	p.R354T	CLTC_uc002ixp.2_Missense_Mutation_p.R350T|CLTC_uc002ixq.1_Missense_Mutation_p.R350T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	350	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.077844	0.556638	30.978277	13	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57737831	57737831	3704	17	G	C	C	C	429	33	CLTC	3	3
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58134512G>A	uc002iyk.1	-	c.1976C>T	c.(1975-1977)TCC>TTC	p.S659F	HEATR6_uc010ddk.1_Missense_Mutation_p.S198F|HEATR6_uc010wos.1_Missense_Mutation_p.S491F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)											0.06135	-11.383947	21.353514	10	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58134512	58134512	7316	17	G	A	A	A	533	41	HEATR6	2	2
HEATR6	63897	broad.mit.edu	37	17	58144882	58144882	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58144882G>A	uc002iyk.1	-	c.1151C>T	c.(1150-1152)TCA>TTA	p.S384L	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.S216L	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	384	Poly-Ser.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)											0.098361	3.705816	13.550763	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58144882	58144882	7316	17	G	A	A	A	585	45	HEATR6	2	2
USP32	84669	broad.mit.edu	37	17	58332590	58332590	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58332590C>T	uc002iyo.1	-	c.1020G>A	c.(1018-1020)CAG>CAA	p.Q340Q	USP32_uc002iyn.1_Silent_p.Q10Q|USP32_uc010wov.1_Silent_p.Q340Q	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	340					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)											0.071429	-0.845789	9.752475	4	52	KEEP	---	---	---	---	capture		Silent	SNP	58332590	58332590	17627	17	C	T	T	T	415	32	USP32	2	2
GH2	2689	broad.mit.edu	37	17	61958482	61958482	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61958482C>T	uc002jcl.1	-	c.198G>A	c.(196-198)CAG>CAA	p.Q66Q	GH2_uc002jcj.2_Silent_p.Q66Q|CSH2_uc002jck.2_Intron|GH2_uc002jcm.1_Silent_p.Q66Q|GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Silent_p.Q66Q	NM_022557	NP_072051	P01242	SOM2_HUMAN	growth hormone 2 isoform 2	66						extracellular region	hormone activity			pancreas(1)	1														0.035714	-41.449476	17.546975	9	243	KEEP	---	---	---	---	capture		Silent	SNP	61958482	61958482	6636	17	C	T	T	T	415	32	GH2	2	2
POLG2	11232	broad.mit.edu	37	17	62481962	62481962	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62481962C>A	uc002jei.2	-	c.993G>T	c.(991-993)GTG>GTT	p.V331V	POLG2_uc010deg.1_Silent_p.V331V	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	331					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			Colon(3;18 21 435 17652 48887)								0.191011	35.72172	43.665145	17	72	KEEP	---	---	---	---	capture		Silent	SNP	62481962	62481962	12629	17	C	A	A	A	262	21	POLG2	2	2
SMURF2	64750	broad.mit.edu	37	17	62551057	62551057	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62551057T>C	uc002jep.1	-	c.1665A>G	c.(1663-1665)GCA>GCG	p.A555A	SMURF2_uc002jeq.1_Silent_p.A314A|SMURF2_uc002jer.1_Silent_p.A314A	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	555	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)							363				0.098039	3.436733	11.684808	5	46	KEEP	---	---	---	---	capture		Silent	SNP	62551057	62551057	15320	17	T	C	C	C	652	51	SMURF2	4	4
GNA13	10672	broad.mit.edu	37	17	63014378	63014378	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63014378C>A	uc002jfc.2	-	c.554G>T	c.(553-555)GGA>GTA	p.G185V	GNA13_uc010wqh.1_Missense_Mutation_p.G90V	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	185					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0														0.065574	-3.351351	8.600198	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63014378	63014378	6770	17	C	A	A	A	390	30	GNA13	2	2
CCDC46	201134	broad.mit.edu	37	17	64024523	64024523	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64024523C>A	uc002jfl.2	-	c.1504G>T	c.(1504-1506)GCA>TCA	p.A502S	CCDC46_uc010deo.2_Missense_Mutation_p.A244S|CCDC46_uc002jfm.2_Missense_Mutation_p.A502S|CCDC46_uc010dep.2_Missense_Mutation_p.A460S	NM_145036	NP_659473	Q8N8E3	CCD46_HUMAN	coiled-coil domain containing 46 isoform a	502	Potential.										0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)											0.05618	-8.481221	9.932387	5	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64024523	64024523	2940	17	C	A	A	A	338	26	CCDC46	2	2
APOH	350	broad.mit.edu	37	17	64216781	64216781	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64216781G>C	uc002jfn.3	-	c.495C>G	c.(493-495)CTC>CTG	p.L165L		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	165	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			Melanoma(155;624 1882 16869 48804 51309)								0.240964	56.257695	61.339198	20	63	KEEP	---	---	---	---	capture		Silent	SNP	64216781	64216781	815	17	G	C	C	C	418	33	APOH	3	3
CACNG5	27091	broad.mit.edu	37	17	64881106	64881106	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64881106G>C	uc010wqi.1	+	c.577G>C	c.(577-579)GGG>CGG	p.G193R	CACNG5_uc010wqj.1_Missense_Mutation_p.G193R	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	193	Helical; (Potential).			SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|postsynaptic density	voltage-gated calcium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)											0.151163	19.650182	29.652892	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64881106	64881106	2676	17	G	C	C	C	507	39	CACNG5	3	3
SLC16A6	9120	broad.mit.edu	37	17	66267264	66267264	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66267264C>T	uc002jgz.1	-	c.1037G>A	c.(1036-1038)GGA>GAA	p.G346E	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G346E	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	346	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)									0.069767	-3.488363	12.919986	6	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66267264	66267264	14908	17	C	T	T	T	390	30	SLC16A6	2	2
ABCA8	10351	broad.mit.edu	37	17	66883571	66883571	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66883571A>C	uc002jhq.2	-	c.3221T>G	c.(3220-3222)GTT>GGT	p.V1074G	ABCA8_uc002jhp.2_Missense_Mutation_p.V1034G|ABCA8_uc010wqq.1_Missense_Mutation_p.V1074G|ABCA8_uc010wqr.1_Missense_Mutation_p.V1013G	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1034	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.1625	40.181701	57.847722	26	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66883571	66883571	39	17	A	C	C	C	26	2	ABCA8	4	4
KCNJ2	3759	broad.mit.edu	37	17	68171565	68171565	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68171565T>A	uc010dfg.2	+	c.385T>A	c.(385-387)TTC>ATC	p.F129I	KCNJ2_uc002jir.2_Missense_Mutation_p.F129I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	129					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.241667	68.80884	76.120371	29	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68171565	68171565	8356	17	T	A	A	A	728	56	KCNJ2	3	3
UNK	85451	broad.mit.edu	37	17	73813435	73813435	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73813435G>C	uc002jpm.2	+	c.1361G>C	c.(1360-1362)AGC>ACC	p.S454T		NM_001080419	NP_001073888			zinc finger CCCH-type domain containing 5												0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.321429	24.365008	25.158293	9	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73813435	73813435	17559	17	G	C	C	C	442	34	UNK	3	3
EVPL	2125	broad.mit.edu	37	17	74005847	74005847	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74005847C>A	uc010wss.1	-	c.3505G>T	c.(3505-3507)GGG>TGG	p.G1169W	EVPL_uc002jqi.2_Missense_Mutation_p.G1147W|EVPL_uc010wst.1_Missense_Mutation_p.G617W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1147	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.142857	13.532858	21.277391	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74005847	74005847	5485	17	C	A	A	A	312	24	EVPL	2	2
RNF157	114804	broad.mit.edu	37	17	74152362	74152362	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74152362G>A	uc002jqz.2	-	c.1454C>T	c.(1453-1455)TCG>TTG	p.S485L	RNF157_uc002jra.2_Missense_Mutation_p.S485L	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	485	Ser-rich.						zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GBM(186;507 2120 27388 27773 52994)								0.117647	14.650559	29.288917	12	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74152362	74152362	13931	17	G	A	A	A	481	37	RNF157	1	1
ST6GALNAC1	55808	broad.mit.edu	37	17	74625594	74625594	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74625594C>T	uc002jsh.2	-	c.331G>A	c.(331-333)GAG>AAG	p.E111K	ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	111	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0														0.067114	-9.364842	19.567387	10	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74625594	74625594	15741	17	C	T	T	T	390	30	ST6GALNAC1	2	2
SHBG	6462	broad.mit.edu	37	17	7534966	7534966	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7534966G>C	uc002gie.2	+	c.615G>C	c.(613-615)GAG>GAC	p.E205D	SHBG_uc010cmo.2_Missense_Mutation_p.E93D|SHBG_uc010cmp.2_Missense_Mutation_p.E147D|SHBG_uc010cmq.2_Missense_Mutation_p.E93D|SHBG_uc010cmr.2_Missense_Mutation_p.E93D|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.E147D|SHBG_uc010cmu.2_Missense_Mutation_p.E147D|SHBG_uc010cmz.2_Missense_Mutation_p.E147D|SHBG_uc010cmv.2_Missense_Mutation_p.E93D|SHBG_uc010cmw.2_Missense_Mutation_p.E93D|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.E147D|SHBG_uc002gid.3_Missense_Mutation_p.E147D|SHBG_uc010cnd.2_Missense_Mutation_p.E151D|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.E187D|SHBG_uc010vuf.1_Missense_Mutation_p.E205D|SHBG_uc010cnb.2_Missense_Mutation_p.E205D|SHBG_uc010cnc.2_Missense_Mutation_p.E151D	NM_001040	NP_001031	P04278	SHBG_HUMAN	sex hormone-binding globulin isoform 1	205	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)									0.086022	0.831024	16.990661	8	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7534966	7534966	14761	17	G	C	C	C	425	33	SHBG	3	3
SEPT9	10801	broad.mit.edu	37	17	75398186	75398186	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:75398186C>G	uc002jts.3	+	c.122C>G	c.(121-123)TCC>TGC	p.S41C	SEPT9_uc010wtk.1_Missense_Mutation_p.S22C|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Missense_Mutation_p.S23C|SEPT9_uc002jtv.2_Missense_Mutation_p.S34C|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	41					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.153)							329				0.15625	17.689597	24.950409	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75398186	75398186	14557	17	C	G	G	G	390	30	SEPT9	3	3
TP53	7157	broad.mit.edu	37	17	7577142	7577143	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577142_7577143CC>AT	uc002gim.2	-	c.795_796GG>AT	c.(793-798)CTGGGA>CTATGA	p.G266*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.G266*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.G134*|TP53_uc010cng.1_Nonsense_Mutation_p.G134*|TP53_uc002gii.1_Nonsense_Mutation_p.G134*|TP53_uc010cnh.1_Nonsense_Mutation_p.G266*|TP53_uc010cni.1_Nonsense_Mutation_p.G266*|TP53_uc002gij.2_Nonsense_Mutation_p.G266*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	266	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (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.G266R(41)|p.G266*(12)|p.0?(6)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.L265L(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265P(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.G266R(NCO2-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.293103	44.25399	46.475566	17	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	7577142	7577143	16923	17	CC	AT	AT	AT	286	22	TP53	5	2
SYNGR2	9144	broad.mit.edu	37	17	76167873	76167873	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76167873C>T	uc002juu.1	+	c.531C>T	c.(529-531)TTC>TTT	p.F177F	SYNGR2_uc002jut.2_Missense_Mutation_p.S207L|SYNGR2_uc002juv.1_Missense_Mutation_p.H131Y|SYNGR2_uc010dhi.1_Non-coding_Transcript	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	177						integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)											0.159091	24.712004	34.442489	14	74	KEEP	---	---	---	---	capture		Silent	SNP	76167873	76167873	15970	17	C	T	T	T	376	29	SYNGR2	2	2
DNAH2	146754	broad.mit.edu	37	17	7720704	7720704	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7720704G>A	uc002giu.1	+	c.9991G>A	c.(9991-9993)GAG>AAG	p.E3331K	DNAH2_uc010cnm.1_Missense_Mutation_p.E269K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3331					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.077348	-4.90126	28.197822	14	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7720704	7720704	4785	17	G	A	A	A	585	45	DNAH2	2	2
CARD14	79092	broad.mit.edu	37	17	78156489	78156489	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78156489C>T	uc002jxw.1	+	c.249C>T	c.(247-249)AAC>AAT	p.N83N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Silent_p.N83N|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	83	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)							565				0.076923	-1.333299	8.18938	4	48	KEEP	---	---	---	---	capture		Silent	SNP	78156489	78156489	2765	17	C	T	T	T	246	19	CARD14	1	1
FN3KRP	79672	broad.mit.edu	37	17	80680682	80680682	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80680682A>T	uc002kfu.2	+	c.388A>T	c.(388-390)AGA>TGA	p.R130*	FN3KRP_uc010wvr.1_Nonsense_Mutation_p.R80*	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	130							kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)											0.121951	4.847583	10.587543	5	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	80680682	80680682	6206	17	A	T	T	T	140	11	FN3KRP	5	3
C17orf68	80169	broad.mit.edu	37	17	8146359	8146359	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8146359C>T	uc002gkq.3	-	c.141G>A	c.(139-141)AAG>AAA	p.K47K	C17orf68_uc010cnv.2_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	47					telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0														0.137931	5.479563	9.159157	4	25	KEEP	---	---	---	---	capture		Silent	SNP	8146359	8146359	1933	17	C	T	T	T	415	32	C17orf68	2	2
GAS7	8522	broad.mit.edu	37	17	9830037	9830037	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9830037T>A	uc002gmg.1	-	c.935A>T	c.(934-936)AAG>ATG	p.K312M	GAS7_uc010vvc.1_Missense_Mutation_p.K126M|GAS7_uc002gmh.1_Missense_Mutation_p.K172M|GAS7_uc010vvd.1_Missense_Mutation_p.K264M|GAS7_uc002gmi.2_Missense_Mutation_p.K248M|GAS7_uc002gmj.1_Missense_Mutation_p.K252M|GAS7_uc010coh.1_Missense_Mutation_p.K252M	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	312	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.404255	54.117009	54.493074	19	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9830037	9830037	6514	17	T	A	A	A	728	56	GAS7	3	3
APCDD1	147495	broad.mit.edu	37	18	10471851	10471851	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:10471851C>G	uc002kom.3	+	c.567C>G	c.(565-567)CTC>CTG	p.L189L		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	189	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)										0.073529	0.520704	13.230113	5	63	KEEP	---	---	---	---	capture		Silent	SNP	10471851	10471851	775	18	C	G	G	G	405	32	APCDD1	3	3
CTAGE1	64693	broad.mit.edu	37	18	19996719	19996719	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19996719A>T	uc002ktv.1	-	c.1056T>A	c.(1054-1056)CTT>CTA	p.L352L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	352	Potential.					integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)													0.135922	18.980592	32.207079	14	89	KEEP	---	---	---	---	capture		Silent	SNP	19996719	19996719	4151	18	A	T	T	T	158	13	CTAGE1	3	3
RIOK3	8780	broad.mit.edu	37	18	21053585	21053585	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21053585C>T	uc002kui.3	+	c.1008C>T	c.(1006-1008)CTC>CTT	p.L336L	RIOK3_uc010dls.2_Silent_p.L336L|RIOK3_uc010xas.1_Silent_p.L320L|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	336	Protein kinase.				chromosome segregation|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)									276				0.137931	6.184257	9.857827	4	25	KEEP	---	---	---	---	capture		Silent	SNP	21053585	21053585	13856	18	C	T	T	T	392	31	RIOK3	1	1
SLC14A2	8170	broad.mit.edu	37	18	43247877	43247877	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43247877C>G	uc010dnj.2	+	c.1797C>G	c.(1795-1797)AGC>AGG	p.S599R	SLC14A2_uc002lbe.2_Missense_Mutation_p.S599R	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	599						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2														0.065217	-9.076348	18.053085	9	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43247877	43247877	14892	18	C	G	G	G	350	27	SLC14A2	3	3
DCC	1630	broad.mit.edu	37	18	50683754	50683755	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50683754_50683755GG>TT	uc002lfe.1	+	c.1290_1291GG>TT	c.(1288-1293)TCGGCT>TCTTCT	p.A431S	DCC_uc010xdr.1_Missense_Mutation_p.A279S|DCC_uc010dpf.1_Missense_Mutation_p.A86S	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	431	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)										0.468085	214.046204	214.170032	66	75	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	50683754	50683755	4453	18	GG	TT	TT	TT	496	39	DCC	1	1
DCC	1630	broad.mit.edu	37	18	51013320	51013320	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:51013320G>A	uc002lfe.1	+	c.3890G>A	c.(3889-3891)AGA>AAA	p.R1297K	DCC_uc010dpf.1_Missense_Mutation_p.R932K	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1297	Cytoplasmic (Potential).				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)										0.126761	12.72329	22.374338	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51013320	51013320	4453	18	G	A	A	A	429	33	DCC	2	2
CCDC68	80323	broad.mit.edu	37	18	52602106	52602106	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52602106T>A	uc002lfs.2	-	c.545A>T	c.(544-546)GAA>GTA	p.E182V	CCDC68_uc002lft.2_Missense_Mutation_p.E182V	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	182	Potential.										0				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)										0.384615	13.871712	14.023506	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52602106	52602106	2963	18	T	A	A	A	806	62	CCDC68	3	3
WDR7	23335	broad.mit.edu	37	18	54398738	54398738	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54398738G>A	uc002lgk.1	+	c.1899G>A	c.(1897-1899)ACG>ACA	p.T633T	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.T633T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	633										ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.109589	6.665187	17.676548	8	65	KEEP	---	---	---	---	capture		Silent	SNP	54398738	54398738	17893	18	G	A	A	A	470	37	WDR7	1	1
ATP8B1	5205	broad.mit.edu	37	18	55338753	55338753	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55338753C>A	uc002lgw.2	-	c.1879G>T	c.(1879-1881)GAA>TAA	p.E627*		NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	627	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(4)|ovary(2)|central_nervous_system(2)	8		Colorectal(73;0.229)								950				0.347826	21.683617	22.157891	8	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55338753	55338753	1213	18	C	A	A	A	377	29	ATP8B1	5	2
CCBE1	147372	broad.mit.edu	37	18	57133973	57133973	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:57133973G>T	uc002lib.2	-	c.551C>A	c.(550-552)ACT>AAT	p.T184N		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	184					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			ovary(1)	1		Colorectal(73;0.175)				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)								0.428571	35.094912	35.219608	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57133973	57133973	2851	18	G	T	T	T	468	36	CCBE1	2	2
SERPINB13	5275	broad.mit.edu	37	18	61264326	61264326	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61264326C>T	uc010xep.1	+	c.932C>T	c.(931-933)GCC>GTC	p.A311V	SERPINB13_uc002ljc.2_Missense_Mutation_p.A302V|SERPINB13_uc002ljd.2_Missense_Mutation_p.A166V|SERPINB13_uc010xeq.1_Missense_Mutation_p.A123V|SERPINB13_uc010xer.1_Missense_Mutation_p.A123V	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	302					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.055556	-8.999834	9.707902	5	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61264326	61264326	14588	18	C	T	T	T	338	26	SERPINB13	2	2
SERPINB4	6318	broad.mit.edu	37	18	61310740	61310740	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61310740C>T	uc002ljf.2	-	c.72G>A	c.(70-72)GAG>GAA	p.E24E	SERPINB4_uc002lje.2_Silent_p.E24E|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	24					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.14	22.683914	35.197715	14	86	KEEP	---	---	---	---	capture		Silent	SNP	61310740	61310740	14591	18	C	T	T	T	415	32	SERPINB4	2	2
CNDP2	55748	broad.mit.edu	37	18	72180810	72180810	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72180810G>A	uc002llm.1	+	c.759G>A	c.(757-759)AAG>AAA	p.K253K	CNDP2_uc002lln.1_Silent_p.K169K|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	253						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)										0.269231	15.607211	16.862237	7	19	KEEP	---	---	---	---	capture		Silent	SNP	72180810	72180810	3732	18	G	A	A	A	425	33	CNDP2	2	2
C18orf22	79863	broad.mit.edu	37	18	77798591	77798591	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77798591C>T	uc002lns.2	+	c.465C>T	c.(463-465)GTC>GTT	p.V155V	C18orf22_uc010drh.2_Silent_p.V155V|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	155					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)										0.083333	0.397661	6.749038	3	33	KEEP	---	---	---	---	capture		Silent	SNP	77798591	77798591	1959	18	C	T	T	T	379	30	C18orf22	2	2
COL5A3	50509	broad.mit.edu	37	19	10099811	10099811	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10099811G>A	uc002mmq.1	-	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	712	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.157895	10.728791	14.967378	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10099811	10099811	3836	19	G	A	A	A	480	37	COL5A3	1	1
COL5A3	50509	broad.mit.edu	37	19	10103535	10103535	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10103535G>T	uc002mmq.1	-	c.1816C>A	c.(1816-1818)CCC>ACC	p.P606T		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	606	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.181818	19.424001	24.650351	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10103535	10103535	3836	19	G	T	T	T	559	43	COL5A3	2	2
RDH8	50700	broad.mit.edu	37	19	10124180	10124180	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10124180G>A	uc002mmr.2	+	c.7G>A	c.(7-9)GCT>ACT	p.A3T		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	3					estrogen biosynthetic process|oxidation-reduction process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)									0.15	4.913708	7.261364	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10124180	10124180	13665	19	G	A	A	A	494	38	RDH8	1	1
CDC37	11140	broad.mit.edu	37	19	10502247	10502247	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10502247C>T	uc002mof.1	-	c.1117G>A	c.(1117-1119)GAG>AAG	p.E373K	CDC37_uc002moe.1_Missense_Mutation_p.E328K|CDC37_uc010dxf.1_Missense_Mutation_p.E210K|CDC37_uc002mog.1_Missense_Mutation_p.E284K|CDC37_uc002moh.2_Missense_Mutation_p.E363K	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	373					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)								OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.098361	-0.005763	9.878593	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10502247	10502247	3196	19	C	T	T	T	377	29	CDC37	2	2
KEAP1	9817	broad.mit.edu	37	19	10610221	10610221	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610221C>A	uc002moq.1	-	c.489G>T	c.(487-489)CAG>CAT	p.Q163H	KEAP1_uc002mor.1_Missense_Mutation_p.Q163H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	163				YQI->AAA: Increases ubiquitination and proteolytic degradation.	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)											0.323529	28.613309	29.553188	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10610221	10610221	8447	19	C	A	A	A	415	32	KEAP1	2	2
ZNF69	7620	broad.mit.edu	37	19	12015468	12015468	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12015468C>G	uc002mst.3	+	c.214C>G	c.(214-216)CTC>GTC	p.L72V		NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN	zinc finger protein 69	86	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Lung(535;0.011)										0.056338	-5.059138	9.626826	4	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12015468	12015468	18690	19	C	G	G	G	416	32	ZNF69	3	3
ZNF442	79973	broad.mit.edu	37	19	12460637	12460637	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12460637G>T	uc002mtr.1	-	c.1762C>A	c.(1762-1764)CGA>AGA	p.R588R	ZNF442_uc010xmk.1_Silent_p.R519R	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|kidney(1)	3														0.093023	4.144188	18.464435	8	78	KEEP	---	---	---	---	capture		Silent	SNP	12460637	12460637	18508	19	G	T	T	T	480	37	ZNF442	1	1
GCDH	2639	broad.mit.edu	37	19	13002761	13002761	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13002761C>T	uc002mvq.2	+	c.244C>T	c.(244-246)CGC>TGC	p.R82C	GCDH_uc010xms.1_Missense_Mutation_p.R70C|GCDH_uc002mvp.2_Missense_Mutation_p.R82C|GCDH_uc010xmt.1_5'UTR|GCDH_uc010xmu.1_Silent_p.L19L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	82					lysine catabolic process|oxidation-reduction process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GBM(123;875 1636 7726 16444 26754)								0.138889	6.250024	10.795515	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13002761	13002761	6553	19	C	T	T	T	403	31	GCDH	1	1
FARSA	2193	broad.mit.edu	37	19	13035802	13035802	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13035802C>T	uc002mvs.2	-	c.942G>A	c.(940-942)TGG>TGA	p.W314*	FARSA_uc002mvt.2_Non-coding_Transcript|FARSA_uc010xmv.1_Nonsense_Mutation_p.W283*|FARSA_uc010dyy.1_Nonsense_Mutation_p.W235*	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	314					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)									0.15625	8.15037	11.766777	5	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	13035802	13035802	5915	19	C	T	T	T	390	30	FARSA	5	2
CACNA1A	773	broad.mit.edu	37	19	13387897	13387897	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13387897C>G	uc002mwy.3	-	c.3868G>C	c.(3868-3870)GAG>CAG	p.E1290Q	CACNA1A_uc010xnd.1_5'Flank|CACNA1A_uc002mwx.3_5'Flank|CACNA1A_uc010dzc.2_Missense_Mutation_p.E816Q|CACNA1A_uc010dze.2_Missense_Mutation_p.E1291Q|CACNA1A_uc010xne.1_Missense_Mutation_p.E819Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 4	1291	III.|Helical; Name=S2 of repeat III; (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)							OREG0025295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.087719	4.029085	13.828935	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13387897	13387897	2654	19	C	G	G	G	377	29	CACNA1A	3	3
ZNF333	84449	broad.mit.edu	37	19	14815883	14815883	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14815883G>T	uc002mzn.2	+	c.324G>T	c.(322-324)CTG>CTT	p.L108L	ZNF333_uc010dzq.2_Silent_p.L108L|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Silent_p.L108L|ZNF333_uc002mzm.2_Nonsense_Mutation_p.E49*|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						NSCLC(60;75 1281 16985 25154 29885)								0.441176	43.719195	43.821843	15	19	KEEP	---	---	---	---	capture		Silent	SNP	14815883	14815883	18442	19	G	T	T	T	574	45	ZNF333	2	2
SLC1A6	6511	broad.mit.edu	37	19	15064958	15064958	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15064958G>C	uc002naa.1	-	c.1353C>G	c.(1351-1353)ATC>ATG	p.I451M	SLC1A6_uc010dzu.1_Missense_Mutation_p.I373M|SLC1A6_uc010xod.1_Missense_Mutation_p.I387M	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	451					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.146341	11.629952	16.552526	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15064958	15064958	14932	19	G	C	C	C	577	45	SLC1A6	3	3
CASP14	23581	broad.mit.edu	37	19	15164405	15164405	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15164405G>A	uc010dzv.1	+	c.140G>A	c.(139-141)AGA>AAA	p.R47K	CASP14_uc002naf.2_Missense_Mutation_p.R47K	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	47					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			ovary(1)|lung(1)	2														0.146417	73.647415	112.202307	47	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15164405	15164405	2789	19	G	A	A	A	429	33	CASP14	2	2
CYP4F11	57834	broad.mit.edu	37	19	16025122	16025122	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16025122C>A	uc002nbu.2	-	c.1390G>T	c.(1390-1392)GGG>TGG	p.G464W	CYP4F11_uc010eab.1_Missense_Mutation_p.R442M|CYP4F11_uc002nbt.2_Missense_Mutation_p.G464W	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	464					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.446254	407.952658	408.702386	137	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16025122	16025122	4351	19	C	A	A	A	312	24	CYP4F11	2	2
CYP4F11	57834	broad.mit.edu	37	19	16034628	16034628	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16034628C>T	uc002nbu.2	-	c.912G>A	c.(910-912)CTG>CTA	p.L304L	CYP4F11_uc010eab.1_Silent_p.L304L|CYP4F11_uc002nbt.2_Silent_p.L304L	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	304					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.096154	5.167085	22.181419	10	94	KEEP	---	---	---	---	capture		Silent	SNP	16034628	16034628	4351	19	C	T	T	T	366	29	CYP4F11	2	2
SF4	57794	broad.mit.edu	37	19	19407828	19407828	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19407828C>A	uc002nmh.2	-	c.1213G>T	c.(1213-1215)GAC>TAC	p.D405Y	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.D195Y|SF4_uc002nmj.2_Missense_Mutation_p.D195Y|SF4_uc010xqr.1_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	405					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0														0.458333	29.419335	29.455862	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19407828	19407828	14644	19	C	A	A	A	390	30	SF4	2	2
ZNF429	353088	broad.mit.edu	37	19	21719513	21719513	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21719513A>T	uc002nqd.1	+	c.658A>T	c.(658-660)AAG>TAG	p.K220*	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	220	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.177778	15.271603	19.672927	8	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21719513	21719513	18495	19	A	T	T	T	169	13	ZNF429	5	3
ZNF257	113835	broad.mit.edu	37	19	22270820	22270820	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22270820G>C	uc010ecx.2	+	c.268G>C	c.(268-270)GAC>CAC	p.D90H	ZNF257_uc010ecy.2_Missense_Mutation_p.D58H	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.225806	19.508696	21.648863	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22270820	22270820	18391	19	G	C	C	C	429	33	ZNF257	3	3
ZNF536	9745	broad.mit.edu	37	19	31039656	31039656	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039656C>G	uc002nsu.1	+	c.3130C>G	c.(3130-3132)CAA>GAA	p.Q1044E	ZNF536_uc010edd.1_Missense_Mutation_p.Q1044E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.392157	56.286241	56.806177	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039656	31039656	18568	19	C	G	G	G	273	21	ZNF536	3	3
GNA11	2767	broad.mit.edu	37	19	3119001	3119001	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3119001C>G	uc002lxd.2	+	c.685C>G	c.(685-687)CTC>GTC	p.L229V		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	229					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)										0.166667	7.783913	10.314286	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3119001	3119001	6768	19	C	G	G	G	416	32	GNA11	3	3
SLC7A9	11136	broad.mit.edu	37	19	33349427	33349427	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33349427T>A	uc002ntv.3	-	c.896A>T	c.(895-897)TAT>TTT	p.Y299F	SLC7A9_uc002ntt.3_Non-coding_Transcript|SLC7A9_uc002ntu.3_Missense_Mutation_p.Y299F|SLC7A9_uc002ntw.3_Missense_Mutation_p.Y90F	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	299	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding				0	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GBM(181;1335 2108 9644 44178 46689)								0.287671	56.956652	59.901251	21	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33349427	33349427	15202	19	T	A	A	A	637	49	SLC7A9	3	3
GAPDHS	26330	broad.mit.edu	37	19	36027890	36027890	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36027890T>A	uc002oaf.1	+	c.243T>A	c.(241-243)AAT>AAA	p.N81K		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	81					gluconeogenesis|glycolysis|oxidation-reduction process|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)									0.090909	3.245177	12.512408	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36027890	36027890	6501	19	T	A	A	A	660	51	GAPDHS	3	3
ARHGAP33	115703	broad.mit.edu	37	19	36272067	36272067	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36272067G>C	uc002obs.1	+	c.998G>C	c.(997-999)CGC>CCC	p.R333P	ARHGAP33_uc002obr.1_Missense_Mutation_p.R333P|ARHGAP33_uc002obt.1_Missense_Mutation_p.R197P|ARHGAP33_uc010eel.2_5'Flank|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	333	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.125	10.006359	18.762348	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36272067	36272067	894	19	G	C	C	C	494	38	ARHGAP33	3	3
ARHGAP33	115703	broad.mit.edu	37	19	36278945	36278945	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36278945C>T	uc002obs.1	+	c.2995C>T	c.(2995-2997)CGG>TGG	p.R999W	ARHGAP33_uc002obt.1_Missense_Mutation_p.R996W|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.R748W	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1160					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.133333	4.080644	7.997138	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36278945	36278945	894	19	C	T	T	T	399	31	ARHGAP33	1	1
C19orf46	163183	broad.mit.edu	37	19	36496283	36496283	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36496283C>T	uc002ocq.1	-	c.924G>A	c.(922-924)CAG>CAA	p.Q308Q	C19orf46_uc002ocr.1_Missense_Mutation_p.E249K|C19orf46_uc002ocs.1_Silent_p.Q195Q|C19orf46_uc010een.1_Silent_p.Q223Q	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	hypothetical protein LOC163183	308	Cytoplasmic (Potential).				establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			ovary(1)	1	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.088235	1.097678	6.926652	3	31	KEEP	---	---	---	---	capture		Silent	SNP	36496283	36496283	1993	19	C	T	T	T	415	32	C19orf46	2	2
ZNF260	339324	broad.mit.edu	37	19	37005960	37005960	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37005960C>A	uc002oee.1	-	c.181G>T	c.(181-183)GGT>TGT	p.G61C	ZNF260_uc002oed.1_Missense_Mutation_p.G58C|ZNF260_uc010eey.1_Missense_Mutation_p.G58C|ZNF260_uc002oef.1_Missense_Mutation_p.G58C	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	61	C2H2-type 2.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.495575	171.793922	171.79586	56	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37005960	37005960	18394	19	C	A	A	A	273	21	ZNF260	2	2
ZNF569	148266	broad.mit.edu	37	19	37904467	37904467	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37904467G>A	uc002ogj.2	-	c.1165C>T	c.(1165-1167)CAG>TAG	p.Q389*	ZNF569_uc002ogh.2_Nonsense_Mutation_p.Q206*|ZNF569_uc002ogi.2_Nonsense_Mutation_p.Q365*	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	365	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.294118	78.09886	81.975502	30	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37904467	37904467	18595	19	G	A	A	A	585	45	ZNF569	5	2
ZNF781	163115	broad.mit.edu	37	19	38160602	38160602	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38160602C>A	uc002ogy.2	-	c.448G>T	c.(448-450)GTG>TTG	p.V150L	ZNF781_uc002ogz.2_Missense_Mutation_p.V145L	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.119403	9.950155	19.479375	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38160602	38160602	18752	19	C	A	A	A	221	17	ZNF781	2	2
CATSPERG	57828	broad.mit.edu	37	19	38849157	38849157	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38849157G>A	uc002oih.3	+	c.1452G>A	c.(1450-1452)CCG>CCA	p.P484P	CATSPERG_uc002oig.3_Silent_p.P444P|CATSPERG_uc002oif.3_Silent_p.P124P|CATSPERG_uc010efw.2_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	484	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1														0.07874	-0.335594	22.674354	10	117	KEEP	---	---	---	---	capture		Silent	SNP	38849157	38849157	2811	19	G	A	A	A	509	40	CATSPERG	1	1
RYR1	6261	broad.mit.edu	37	19	38968507	38968507	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38968507G>T	uc002oit.2	+	c.4451G>T	c.(4450-4452)AGC>ATC	p.S1484I	RYR1_uc002oiu.2_Missense_Mutation_p.S1484I	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1484	Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.135135	21.946757	36.2713	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38968507	38968507	14248	19	G	T	T	T	442	34	RYR1	2	2
PAPL	390928	broad.mit.edu	37	19	39575991	39575991	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39575991C>T	uc002oki.2	+	c.82C>T	c.(82-84)CCC>TCC	p.P28S	PAPL_uc010egl.2_Missense_Mutation_p.P28S	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	28						extracellular region	acid phosphatase activity|metal ion binding				0														0.063241	-18.88809	31.317346	16	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39575991	39575991	11844	19	C	T	T	T	390	30	PAPL	2	2
ZFP36	7538	broad.mit.edu	37	19	39898698	39898698	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39898698G>A	uc002olh.1	+	c.340G>A	c.(340-342)GAG>AAG	p.E114K	ZFP36_uc010egn.1_5'UTR	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	114	C3H1-type 1.				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)								0.065217	-5.024755	13.035687	6	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39898698	39898698	18233	19	G	A	A	A	429	33	ZFP36	2	2
ZNF780A	284323	broad.mit.edu	37	19	40581097	40581097	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40581097C>T	uc010xvh.1	-	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omy.2_Missense_Mutation_p.E418K|ZNF780A_uc002omz.2_Missense_Mutation_p.E418K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	zinc finger protein 780A isoform a	418	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.058642	-26.35562	39.779702	19	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40581097	40581097	18750	19	C	T	T	T	377	29	ZNF780A	2	2
CCDC97	90324	broad.mit.edu	37	19	41828558	41828558	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41828558G>T	uc002oqg.2	+	c.970G>T	c.(970-972)GAG>TAG	p.E324*	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	324											0														0.064356	-29.246907	50.459288	26	378	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41828558	41828558	3000	19	G	T	T	T	533	41	CCDC97	5	2
GRIK5	2901	broad.mit.edu	37	19	42526491	42526491	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42526491C>T	uc002osj.1	-	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	GRIK5_uc002osi.1_Missense_Mutation_p.V69M|GRIK5_uc010eib.1_Missense_Mutation_p.V416M	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	497	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.262136	62.382753	67.653774	27	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42526491	42526491	7056	19	C	T	T	T	221	17	GRIK5	2	2
PSG6	5675	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43585056C>G	uc002ovi.2	-	c.407G>C	c.(406-408)GGA>GCA	p.G136A	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.G136A|PSG2_uc002ovq.3_Missense_Mutation_p.G136A|PSG2_uc010eiq.1_Missense_Mutation_p.G136A|PSG2_uc002ovs.3_Missense_Mutation_p.G136A|PSG2_uc002ovt.3_Missense_Mutation_p.G136A	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	135	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.159836	81.093128	107.960556	39	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43585056	43585056	13112	19	C	G	G	G	390	30	PSG6	3	3
C19orf61	56006	broad.mit.edu	37	19	44251649	44251649	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44251649T>A	uc002oxj.2	-	c.533A>T	c.(532-534)AAG>ATG	p.K178M	C19orf61_uc002oxk.2_Missense_Mutation_p.K178M|C19orf61_uc010eiy.1_Missense_Mutation_p.K178M	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	178					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			pancreas(1)	1		Prostate(69;0.0352)												0.104478	6.077966	16.501914	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44251649	44251649	2007	19	T	A	A	A	728	56	C19orf61	3	3
ZNF223	7766	broad.mit.edu	37	19	44570267	44570267	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44570267G>T	uc002oyf.1	+	c.286G>T	c.(286-288)GAA>TAA	p.E96*	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.270833	29.954014	32.228069	13	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44570267	44570267	18368	19	G	T	T	T	585	45	ZNF223	5	2
ZNF223	7766	broad.mit.edu	37	19	44570937	44570937	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44570937G>T	uc002oyf.1	+	c.956G>T	c.(955-957)GGG>GTG	p.G319V	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	319	C2H2-type 6; degenerate.			GKKPNSTGEYGK -> AEKLYKSEKYGR (in Ref. 1; AAF04105).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.365079	187.084109	190.084537	69	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44570937	44570937	18368	19	G	T	T	T	559	43	ZNF223	2	2
ZNF223	7766	broad.mit.edu	37	19	44571372	44571372	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44571372G>T	uc002oyf.1	+	c.1391G>T	c.(1390-1392)CGC>CTC	p.R464L	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)												0.046512	-16.718379	11.537276	6	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44571372	44571372	18368	19	G	T	T	T	494	38	ZNF223	1	1
GEMIN7	79760	broad.mit.edu	37	19	45593435	45593435	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45593435C>T	uc002pap.1	+	c.63C>T	c.(61-63)TTC>TTT	p.F21F	GEMIN7_uc002paq.1_Silent_p.F21F|GEMIN7_uc002par.1_Silent_p.F21F	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	21					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)										0.122807	6.480165	14.426116	7	50	KEEP	---	---	---	---	capture		Silent	SNP	45593435	45593435	6601	19	C	T	T	T	376	29	GEMIN7	2	2
GRLF1	2909	broad.mit.edu	37	19	47422325	47422325	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47422325C>T	uc010ekv.2	+	c.393C>T	c.(391-393)CTC>CTT	p.L131L		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	131					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)										0.065217	-5.227904	12.836256	6	86	KEEP	---	---	---	---	capture		Silent	SNP	47422325	47422325	7074	19	C	T	T	T	366	29	GRLF1	2	2
ZC3H4	23211	broad.mit.edu	37	19	47570648	47570648	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47570648G>A	uc002pga.3	-	c.2877C>T	c.(2875-2877)TTC>TTT	p.F959F	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	959							nucleic acid binding|zinc ion binding			ovary(2)	2		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)										0.096154	3.330695	20.507089	10	94	KEEP	---	---	---	---	capture		Silent	SNP	47570648	47570648	18158	19	G	A	A	A	581	45	ZC3H4	2	2
CABP5	56344	broad.mit.edu	37	19	48533815	48533815	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48533815C>T	uc002phu.1	-	c.521G>A	c.(520-522)TGA>TAA	p.*174*		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	174					signal transduction	cytoplasm	calcium ion binding				0		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)										0.052632	-17.169891	18.991285	9	162	KEEP	---	---	---	---	capture		Silent	SNP	48533815	48533815	2650	19	C	T	T	T	376	29	CABP5	2	2
LIG1	3978	broad.mit.edu	37	19	48638992	48638992	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48638992C>T	uc002pia.1	-	c.1468G>A	c.(1468-1470)GAG>AAG	p.E490K	LIG1_uc010xze.1_Missense_Mutation_p.E183K|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.E422K|LIG1_uc010xzg.1_Missense_Mutation_p.E459K	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	490					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.107143	11.834116	28.97163	12	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48638992	48638992	9107	19	C	T	T	T	416	32	LIG1	2	2
GRIN2D	2906	broad.mit.edu	37	19	48925174	48925174	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48925174G>C	uc002pjc.3	+	c.2224G>C	c.(2224-2226)GAG>CAG	p.E742Q	GRIN2D_uc010elx.2_Intron	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	742	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)									0.048507	-27.54226	30.522393	13	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48925174	48925174	7061	19	G	C	C	C	429	33	GRIN2D	3	3
TRPM4	54795	broad.mit.edu	37	19	49704027	49704027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49704027C>T	uc002pmw.2	+	c.2938C>T	c.(2938-2940)CAG>TAG	p.Q980*	TRPM4_uc010emu.2_Nonsense_Mutation_p.Q835*|TRPM4_uc010yak.1_Nonsense_Mutation_p.Q444*|TRPM4_uc002pmx.2_Nonsense_Mutation_p.Q806*|TRPM4_uc010emv.2_Nonsense_Mutation_p.Q865*|TRPM4_uc010yal.1_Nonsense_Mutation_p.Q626*|TRPM4_uc002pmy.2_Nonsense_Mutation_p.Q322*	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	980					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.296296	19.887178	20.890716	8	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49704027	49704027	17139	19	C	T	T	T	273	21	TRPM4	5	2
IL4I1	259307	broad.mit.edu	37	19	50399290	50399290	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50399290C>T	uc002pqu.1	-	c.100G>A	c.(100-102)GTC>ATC	p.V34I	IL4I1_uc002pqv.1_Missense_Mutation_p.V21I|IL4I1_uc010eno.1_Missense_Mutation_p.V20I|IL4I1_uc002pqw.1_Missense_Mutation_p.V20I|IL4I1_uc002pqt.1_Missense_Mutation_p.V12I	NM_172374	NP_758962	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 2	12					oxidation-reduction process	lysosome	L-amino-acid oxidase activity			ovary(1)	1		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)										0.338983	49.013218	50.398882	20	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50399290	50399290	7998	19	C	T	T	T	247	19	IL4I1	1	1
KLK1	3816	broad.mit.edu	37	19	51325039	51325039	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51325039G>T	uc002ptk.1	-	c.135C>A	c.(133-135)TTC>TTA	p.F45L	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	45	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.113636	5.36485	11.825449	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51325039	51325039	8711	19	G	T	T	T	581	45	KLK1	2	2
KLK15	55554	broad.mit.edu	37	19	51329195	51329195	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51329195C>A	uc002ptl.2	-	c.628G>T	c.(628-630)GGG>TGG	p.G210W	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Missense_Mutation_p.G125W|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Missense_Mutation_p.G209W|KLK15_uc010ych.1_Non-coding_Transcript|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		Pancreas(140;10 2513 7143 9246)								0.091667	2.615483	22.848158	11	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51329195	51329195	8717	19	C	A	A	A	273	21	KLK15	2	2
KLK4	9622	broad.mit.edu	37	19	51411879	51411879	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51411879G>T	uc002pua.1	-	c.431C>A	c.(430-432)GCG>GAG	p.A144E	KLK4_uc002pty.1_Missense_Mutation_p.A95E|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.A49E|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Missense_Mutation_p.A49E|KLK4_uc002pud.1_Missense_Mutation_p.A49E	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	144	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)										0.43617	130.371359	130.703084	41	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51411879	51411879	8720	19	G	T	T	T	494	38	KLK4	1	1
NKG7	4818	broad.mit.edu	37	19	51875446	51875446	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51875446C>A	uc002pwj.2	-	c.273G>T	c.(271-273)CCG>CCT	p.P91P	NKG7_uc002pwk.2_Silent_p.P56P	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	91						integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.094737	3.742206	19.378313	9	86	KEEP	---	---	---	---	capture		Silent	SNP	51875446	51875446	10844	19	C	A	A	A	340	27	NKG7	1	1
SIGLEC10	89790	broad.mit.edu	37	19	51918441	51918441	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51918441C>T	uc002pwo.2	-	c.1324G>A	c.(1324-1326)GTG>ATG	p.V442M	SIGLEC10_uc002pwp.2_Missense_Mutation_p.V384M|SIGLEC10_uc002pwq.2_Missense_Mutation_p.V384M|SIGLEC10_uc002pwr.2_Missense_Mutation_p.V442M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.V352M|SIGLEC10_uc010ycz.1_Missense_Mutation_p.V394M|SIGLEC10_uc010eow.2_Missense_Mutation_p.V254M|SIGLEC10_uc002pws.1_Missense_Mutation_p.V278M	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	442	Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.428571	107.787666	108.161183	36	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51918441	51918441	14801	19	C	T	T	T	247	19	SIGLEC10	1	1
SIGLEC12	89858	broad.mit.edu	37	19	52004649	52004649	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52004649C>G	uc002pwx.1	-	c.339G>C	c.(337-339)GAG>GAC	p.E113D	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	113	Ig-like V-type 1.|Extracellular (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)										0.142857	42.347336	61.27242	22	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52004649	52004649	14803	19	C	G	G	G	415	32	SIGLEC12	3	3
SIGLEC12	89858	broad.mit.edu	37	19	52004653	52004653	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52004653C>T	uc002pwx.1	-	c.335G>A	c.(334-336)AGA>AAA	p.R112K	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	112	Ig-like V-type 1.|Extracellular (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)										0.141975	38.010804	58.038061	23	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52004653	52004653	14803	19	C	T	T	T	416	32	SIGLEC12	2	2
SIGLEC5	8778	broad.mit.edu	37	19	52130480	52130480	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52130480C>G	uc002pxe.2	-	c.1304G>C	c.(1303-1305)GGA>GCA	p.G435A		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	435	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)										0.245283	36.651177	39.781058	13	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52130480	52130480	14806	19	C	G	G	G	390	30	SIGLEC5	3	3
SIGLEC14	100049587	broad.mit.edu	37	19	52147182	52147182	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52147182G>T	uc002pxf.3	-	c.862C>A	c.(862-864)CGG>AGG	p.R288R		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	288	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)										0.212121	14.504911	17.036627	7	26	KEEP	---	---	---	---	capture		Silent	SNP	52147182	52147182	14804	19	G	T	T	T	506	39	SIGLEC14	1	1
ZNF350	59348	broad.mit.edu	37	19	52468573	52468573	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52468573T>A	uc002pyd.2	-	c.1133A>T	c.(1132-1134)GAA>GTA	p.E378V		NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	378	C2H2-type 7.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)										0.104651	5.609628	18.983939	9	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52468573	52468573	18455	19	T	A	A	A	806	62	ZNF350	3	3
ZNF350	59348	broad.mit.edu	37	19	52468935	52468935	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52468935T>A	uc002pyd.2	-	c.771A>T	c.(769-771)ACA>ACT	p.T257T		NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	257					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|transcription repressor activity|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)										0.2	46.542591	54.913237	20	80	KEEP	---	---	---	---	capture		Silent	SNP	52468935	52468935	18455	19	T	A	A	A	704	55	ZNF350	3	3
ZNF616	90317	broad.mit.edu	37	19	52618107	52618107	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52618107C>A	uc002pym.2	-	c.2310G>T	c.(2308-2310)GAG>GAT	p.E770D	ZNF616_uc002pyn.2_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)										0.297297	57.118136	59.838554	22	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52618107	52618107	18636	19	C	A	A	A	415	32	ZNF616	2	2
ZNF578	147660	broad.mit.edu	37	19	53014518	53014518	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53014518C>G	uc002pzp.3	+	c.884C>G	c.(883-885)TCC>TGC	p.S295C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	70	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.374101	154.44071	156.418943	52	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53014518	53014518	18605	19	C	G	G	G	390	30	ZNF578	3	3
ZNF160	90338	broad.mit.edu	37	19	53571403	53571403	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53571403C>A	uc010eqk.2	-	c.2384G>T	c.(2383-2385)GGC>GTC	p.G795V	ZNF160_uc002qaq.3_Missense_Mutation_p.G795V|ZNF160_uc002qar.3_Missense_Mutation_p.G795V	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	795	C2H2-type 20.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)										0.337349	74.786093	76.722488	28	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53571403	53571403	18330	19	C	A	A	A	338	26	ZNF160	2	2
VN1R2	317701	broad.mit.edu	37	19	53762283	53762283	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53762283T>A	uc002qbi.2	+	c.655T>A	c.(655-657)TTC>ATC	p.F219I		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	219	Helical; Name=4; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)										0.24	27.671733	30.759994	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53762283	53762283	17746	19	T	A	A	A	728	56	VN1R2	3	3
ZNF761	388561	broad.mit.edu	37	19	53958156	53958156	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53958156G>C	uc010eqp.2	+	c.395G>C	c.(394-396)AGA>ACA	p.R132T	ZNF761_uc010ydy.1_Missense_Mutation_p.R78T|ZNF761_uc002qbt.1_Missense_Mutation_p.R78T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)										0.045045	-13.518693	11.036873	5	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53958156	53958156	18734	19	G	C	C	C	429	33	ZNF761	3	3
NLRP12	91662	broad.mit.edu	37	19	54313598	54313598	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54313598G>T	uc002qcj.3	-	c.1315C>A	c.(1315-1317)CTG>ATG	p.L439M	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Missense_Mutation_p.L439M|NLRP12_uc002qci.3_Missense_Mutation_p.L439M|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.L439M	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	439	NACHT.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.227273	35.891707	40.396524	15	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54313598	54313598	10877	19	G	T	T	T	451	35	NLRP12	2	2
NLRP12	91662	broad.mit.edu	37	19	54314121	54314121	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54314121C>A	uc002qcj.3	-	c.792G>T	c.(790-792)ATG>ATT	p.M264I	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Missense_Mutation_p.M264I|NLRP12_uc002qci.3_Missense_Mutation_p.M264I|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.M264I	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	264	NACHT.				activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.323529	30.815039	31.753981	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54314121	54314121	10877	19	C	A	A	A	325	25	NLRP12	2	2
NLRP12	91662	broad.mit.edu	37	19	54314470	54314470	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54314470C>A	uc002qcj.3	-	c.443G>T	c.(442-444)GGG>GTG	p.G148V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Missense_Mutation_p.G148V|NLRP12_uc002qci.3_Missense_Mutation_p.G148V|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.G148V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	148					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.086957	0.746621	16.62441	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54314470	54314470	10877	19	C	A	A	A	286	22	NLRP12	2	2
LENG1	79165	broad.mit.edu	37	19	54660561	54660561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54660561C>A	uc002qdm.2	-	c.515G>T	c.(514-516)GGT>GTT	p.G172V		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	172										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)													0.298507	51.332875	53.731812	20	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54660561	54660561	9047	19	C	A	A	A	234	18	LENG1	2	2
TSEN34	79042	broad.mit.edu	37	19	54695775	54695775	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54695775G>C	uc010yeo.1	+	c.447G>C	c.(445-447)GAG>GAC	p.E149D	MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc002qdu.2_Missense_Mutation_p.E149D|TSEN34_uc002qdv.2_Missense_Mutation_p.E149D|TSEN34_uc002qdw.2_Missense_Mutation_p.E149D	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					Esophageal Squamous(37;841 964 4869 42824)								0.066667	-5.126359	12.409133	6	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54695775	54695775	17164	19	G	C	C	C	425	33	TSEN34	3	3
LENG8	114823	broad.mit.edu	37	19	54966210	54966210	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54966210G>C	uc002qfw.2	+	c.760G>C	c.(760-762)GCA>CCA	p.A254P	LENG8_uc002qfv.1_Missense_Mutation_p.A217P	NM_052925	NP_443157	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster member 8	217							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)										0.195652	20.779367	24.728157	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54966210	54966210	9048	19	G	C	C	C	494	38	LENG8	3	3
KIR3DL1	3811	broad.mit.edu	37	19	55377285	55377285	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55377285G>C	uc002qhl.3	+	c.1026G>C	c.(1024-1026)CTG>CTC	p.L342L	KIR3DL2_uc010esh.2_Silent_p.L325L|KIR3DL2_uc002qho.3_Silent_p.L342L	KIR3DS1		P43629	KI3L1_HUMAN	SubName: Full=KIR3DS1;	342	Helical; (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.08209	3.524716	27.336113	11	123	KEEP	---	---	---	---	capture		Silent	SNP	55377285	55377285	8632	19	G	C	C	C	574	45	KIR3DL1	3	3
NLRP2	55655	broad.mit.edu	37	19	55489136	55489136	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55489136A>C	uc002qij.2	+	c.342A>C	c.(340-342)GAA>GAC	p.E114D	NLRP2_uc010yfp.1_Missense_Mutation_p.E91D|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.E114D|NLRP2_uc010esp.2_Missense_Mutation_p.E114D	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	114					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.054945	-8.891438	10.086973	5	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55489136	55489136	10880	19	A	C	C	C	24	2	NLRP2	4	4
NLRP2	55655	broad.mit.edu	37	19	55512228	55512228	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55512228T>A	uc002qij.2	+	c.3151T>A	c.(3151-3153)TGG>AGG	p.W1051R	NLRP2_uc010yfp.1_Missense_Mutation_p.W1028R|NLRP2_uc010esn.2_Missense_Mutation_p.W1027R|NLRP2_uc010eso.2_Missense_Mutation_p.W1048R|NLRP2_uc010esp.2_Missense_Mutation_p.W1029R	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1051					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.416667	79.767302	80.130344	25	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55512228	55512228	10880	19	T	A	A	A	715	55	NLRP2	3	3
PPP1R12C	54776	broad.mit.edu	37	19	55624154	55624154	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55624154C>A	uc002qix.2	-	c.331G>T	c.(331-333)GAT>TAT	p.D111Y	PPP1R12C_uc010yfs.1_Missense_Mutation_p.D37Y|PPP1R12C_uc002qiy.2_Missense_Mutation_p.D111Y	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	111	ANK 1.					cytoplasm				central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)										0.25	23.303602	25.805955	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55624154	55624154	12791	19	C	A	A	A	377	29	PPP1R12C	2	2
NLRP11	204801	broad.mit.edu	37	19	56321267	56321267	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56321267C>G	uc010ygf.1	-	c.709G>C	c.(709-711)GAG>CAG	p.E237Q	NLRP11_uc002qlz.2_Missense_Mutation_p.E138Q|NLRP11_uc002qmb.2_Missense_Mutation_p.E138Q|NLRP11_uc002qmc.2_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	237	NACHT.						ATP binding			ovary(3)|central_nervous_system(1)	4		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)										0.16092	27.879762	37.438761	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56321267	56321267	10876	19	C	G	G	G	403	31	NLRP11	3	3
NLRP13	126204	broad.mit.edu	37	19	56424579	56424579	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56424579C>A	uc010ygg.1	-	c.604G>T	c.(604-606)GTA>TTA	p.V202L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	202							ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)										0.357143	131.853419	134.112042	45	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56424579	56424579	10878	19	C	A	A	A	247	19	NLRP13	1	1
NLRP5	126206	broad.mit.edu	37	19	56539841	56539841	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56539841G>A	uc002qmj.2	+	c.2242G>A	c.(2242-2244)GAG>AAG	p.E748K	NLRP5_uc002qmi.2_Missense_Mutation_p.E729K	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	748	LRR 2.					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)										0.051136	-19.579787	17.979109	9	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56539841	56539841	10883	19	G	A	A	A	585	45	NLRP5	2	2
ZNF71	58491	broad.mit.edu	37	19	57133485	57133485	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57133485G>T	uc002qnm.3	+	c.830G>T	c.(829-831)CGA>CTA	p.R277L		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	277	C2H2-type 6.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)										0.172414	18.929541	24.798809	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57133485	57133485	18710	19	G	T	T	T	481	37	ZNF71	1	1
ZIM2	23619	broad.mit.edu	37	19	57286238	57286238	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57286238A>T	uc002qnr.2	-	c.1402T>A	c.(1402-1404)TGT>AGT	p.C468S	ZIM2_uc010ygq.1_Missense_Mutation_p.C264S|ZIM2_uc010ygr.1_Missense_Mutation_p.C264S|ZIM2_uc002qnq.2_Missense_Mutation_p.C468S|ZIM2_uc010etp.2_Missense_Mutation_p.C468S|ZIM2_uc010ygs.1_Missense_Mutation_p.C468S	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	468	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)										0.25	49.191612	53.50798	19	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57286238	57286238	18275	19	A	T	T	T	78	6	ZIM2	3	3
USP29	57663	broad.mit.edu	37	19	57640155	57640155	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640155C>A	uc002qny.2	+	c.112C>A	c.(112-114)CTG>ATG	p.L38M		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	38					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.346939	47.857761	48.872268	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57640155	57640155	17623	19	C	A	A	A	259	20	USP29	2	2
ZNF264	9422	broad.mit.edu	37	19	57716803	57716803	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57716803G>C	uc002qob.2	+	c.199G>C	c.(199-201)GAG>CAG	p.E67Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)										0.083333	1.195952	7.547995	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57716803	57716803	18396	19	G	C	C	C	429	33	ZNF264	3	3
ZNF547	284306	broad.mit.edu	37	19	57889389	57889389	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57889389G>A	uc002qol.2	+	c.1045G>A	c.(1045-1047)GAA>AAA	p.E349K	ZNF547_uc002qpm.3_Intron|ZNF547_uc010ygx.1_Intron	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.052632	-22.228926	18.090277	10	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57889389	57889389	18574	19	G	A	A	A	429	33	ZNF547	2	2
ZNF17	7565	broad.mit.edu	37	19	57931936	57931936	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57931936A>C	uc002qop.1	+	c.1082A>C	c.(1081-1083)TAT>TCT	p.Y361S	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qoo.1_Missense_Mutation_p.Y359S	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	359	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		Melanoma(149;1637 1853 29914 42869 44988)								0.06	-7.729176	22.6141	9	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57931936	57931936	18334	19	A	C	C	C	208	16	ZNF17	4	4
ZIK1	284307	broad.mit.edu	37	19	58096344	58096344	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58096344A>T	uc002qpg.2	+	c.58A>T	c.(58-60)ATG>TTG	p.M20L	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Intron|ZIK1_uc002qpi.2_Intron|ZIK1_uc002qpj.2_Intron	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.258065	21.186569	22.830111	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58096344	58096344	18274	19	A	T	T	T	208	16	ZIK1	3	3
ZNF586	54807	broad.mit.edu	37	19	58290376	58290376	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58290376G>A	uc002qqd.2	+	c.421G>A	c.(421-423)GAG>AAG	p.E141K	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.M98I|ZNF586_uc010euh.2_Missense_Mutation_p.E98K|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	141	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.076271	-4.142824	17.662609	9	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58290376	58290376	18614	19	G	A	A	A	585	45	ZNF586	2	2
ZNF606	80095	broad.mit.edu	37	19	58490390	58490390	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58490390G>C	uc002qqw.2	-	c.1658C>G	c.(1657-1659)TCA>TGA	p.S553*	ZNF606_uc010yhp.1_Nonsense_Mutation_p.S463*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	553	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|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;0.0168)										0.075	-0.213439	14.611125	6	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58490390	58490390	18627	19	G	C	C	C	585	45	ZNF606	5	3
ZNF606	80095	broad.mit.edu	37	19	58499575	58499575	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58499575C>A	uc002qqw.2	-	c.400G>T	c.(400-402)GAA>TAA	p.E134*	ZNF606_uc010yhp.1_Nonsense_Mutation_p.E44*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|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;0.0168)										0.19403	27.134216	32.988735	13	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58499575	58499575	18627	19	C	A	A	A	312	24	ZNF606	5	2
ZNF324B	388569	broad.mit.edu	37	19	58967053	58967053	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58967053G>A	uc002qsv.1	+	c.742G>A	c.(742-744)GAG>AAG	p.E248K	ZNF324B_uc002qsu.1_Missense_Mutation_p.E238K|ZNF324B_uc010euq.1_Missense_Mutation_p.E248K	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)										0.166667	5.836634	7.714619	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58967053	58967053	18437	19	G	A	A	A	481	37	ZNF324B	1	1
RANBP3	8498	broad.mit.edu	37	19	5941646	5941646	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5941646G>A	uc002mdw.2	-	c.392C>T	c.(391-393)CCA>CTA	p.P131L	RANBP3_uc002mdx.2_Missense_Mutation_p.P131L|RANBP3_uc002mdy.2_Missense_Mutation_p.P63L|RANBP3_uc002mdz.2_Missense_Mutation_p.P63L|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	131					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1														0.14433	22.282423	34.098742	14	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5941646	5941646	13489	19	G	A	A	A	611	47	RANBP3	2	2
STXBP2	6813	broad.mit.edu	37	19	7705871	7705871	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7705871C>T	uc010xjr.1	+	c.444C>T	c.(442-444)TTC>TTT	p.F148F	STXBP2_uc002mha.3_Silent_p.F137F|STXBP2_uc002mhb.3_Silent_p.F134F|STXBP2_uc010dvj.2_Non-coding_Transcript|STXBP2_uc010dvk.2_Silent_p.F105F|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_Silent_p.F298F	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	137					neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			central_nervous_system(1)	1														0.095238	2.418901	9.279904	4	38	KEEP	---	---	---	---	capture		Silent	SNP	7705871	7705871	15873	19	C	T	T	T	389	30	STXBP2	2	2
MUC16	94025	broad.mit.edu	37	19	9017374	9017374	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9017374G>T	uc002mkp.2	-	c.37950C>A	c.(37948-37950)ACC>ACA	p.T12650T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12652	SEA 4.|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														0.2064	275.631984	325.51922	129	496	KEEP	---	---	---	---	capture		Silent	SNP	9017374	9017374	10367	19	G	T	T	T	548	43	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9072068	9072068	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9072068G>T	uc002mkp.2	-	c.15378C>A	c.(15376-15378)ACC>ACA	p.T5126T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5128	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														0.392045	203.588576	205.3665	69	107	KEEP	---	---	---	---	capture		Silent	SNP	9072068	9072068	10367	19	G	T	T	T	600	47	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9088056	9088056	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9088056G>T	uc002mkp.2	-	c.3759C>A	c.(3757-3759)CTC>CTA	p.L1253L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1253	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														0.111272	78.928144	182.271909	77	615	KEEP	---	---	---	---	capture		Silent	SNP	9088056	9088056	10367	19	G	T	T	T	470	37	MUC16	1	1
MUC16	94025	broad.mit.edu	37	19	9089809	9089809	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9089809T>A	uc002mkp.2	-	c.2006A>T	c.(2005-2007)AAG>ATG	p.K669M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	669	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														0.38403	288.310921	291.411864	101	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9089809	9089809	10367	19	T	A	A	A	728	56	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9089921	9089921	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9089921C>A	uc002mkp.2	-	c.1894G>T	c.(1894-1896)GCA>TCA	p.A632S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	632	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														0.350877	164.030393	167.39271	60	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9089921	9089921	10367	19	C	A	A	A	364	28	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9090347	9090347	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9090347A>C	uc002mkp.2	-	c.1468T>G	c.(1468-1470)TCT>GCT	p.S490A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	490	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														0.440945	329.254131	330.04052	112	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9090347	9090347	10367	19	A	C	C	C	143	11	MUC16	4	4
FBXL12	54850	broad.mit.edu	37	19	9922150	9922150	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9922150C>T	uc002mme.2	-	c.403G>A	c.(403-405)GAG>AAG	p.E135K	FBXL12_uc002mmd.2_Missense_Mutation_p.E82K|FBXL12_uc002mmf.2_Missense_Mutation_p.E82K|FBXL12_uc002mmg.2_Missense_Mutation_p.E82K|FBXL12_uc002mmh.2_Missense_Mutation_p.E82K	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	135							protein binding			lung(1)|kidney(1)	2														0.12	3.606968	7.148926	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9922150	9922150	5945	19	C	T	T	T	403	31	FBXL12	1	1
COL11A1	1301	broad.mit.edu	37	1	103471865	103471865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103471865G>A	uc001dum.2	-	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Nonsense_Mutation_p.R564*|COL11A1_uc001dun.2_Nonsense_Mutation_p.R525*|COL11A1_uc009weh.2_Nonsense_Mutation_p.R448*	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	564	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.264706	23.660733	25.361434	9	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103471865	103471865	3805	1	G	A	A	A	480	37	COL11A1	5	1
SYPL2	284612	broad.mit.edu	37	1	110022119	110022119	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110022119G>A	uc001dxp.2	+	c.768G>A	c.(766-768)CAG>CAA	p.Q256Q	SYPL2_uc010ovk.1_Silent_p.Q192Q	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	256	Cytoplasmic (Potential).					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)										0.19697	27.601677	33.200286	13	53	KEEP	---	---	---	---	capture		Silent	SNP	110022119	110022119	15984	1	G	A	A	A	451	35	SYPL2	2	2
KCNA3	3738	broad.mit.edu	37	1	111215974	111215974	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111215974G>T	uc001dzv.1	-	c.1458C>A	c.(1456-1458)TTC>TTA	p.F486L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	486						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.442857	89.012375	89.211992	31	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111215974	111215974	8309	1	G	T	T	T	425	33	KCNA3	2	2
ST7L	54879	broad.mit.edu	37	1	113126701	113126701	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113126701A>T	uc001ecd.2	-	c.749T>A	c.(748-750)ATT>AAT	p.I250N	ST7L_uc009wgh.2_Intron|ST7L_uc001ecc.2_Missense_Mutation_p.I67N|ST7L_uc010owg.1_Missense_Mutation_p.I185N|ST7L_uc010owh.1_Intron|ST7L_uc001ece.2_Missense_Mutation_p.I250N|ST7L_uc001ecf.2_Missense_Mutation_p.I233N|ST7L_uc001ecg.2_Non-coding_Transcript|ST7L_uc010owi.1_Missense_Mutation_p.I185N|ST7L_uc001ech.2_Missense_Mutation_p.I233N|ST7L_uc001eci.2_Missense_Mutation_p.I250N|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.I233N	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	250					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.377778	51.165817	51.75505	17	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113126701	113126701	15748	1	A	T	T	T	52	4	ST7L	3	3
TBX15	6913	broad.mit.edu	37	1	119467273	119467273	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119467273C>A	uc001ehl.1	-	c.371G>T	c.(370-372)GGA>GTA	p.G124V		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	230	T-box.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.224719	84.314691	96.817578	40	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119467273	119467273	16178	1	C	A	A	A	390	30	TBX15	2	2
PLOD1	5351	broad.mit.edu	37	1	12008052	12008052	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12008052G>C	uc010obb.1	+	c.237G>C	c.(235-237)ACG>ACC	p.T79T	PLOD1_uc001atm.2_Silent_p.T32T	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	32					epidermis development|hydroxylysine biosynthetic process|oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.454545	29.247298	29.286721	10	12	KEEP	---	---	---	---	capture		Silent	SNP	12008052	12008052	12527	1	G	C	C	C	496	39	PLOD1	3	3
VPS13D	55187	broad.mit.edu	37	1	12475197	12475197	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12475197C>T	uc001atv.2	+	c.12088C>T	c.(12088-12090)CTA>TTA	p.L4030L	VPS13D_uc001atw.2_Silent_p.L4005L|VPS13D_uc001atx.2_Silent_p.L3217L|VPS13D_uc009vnl.2_Non-coding_Transcript|VPS13D_uc010obd.1_Silent_p.L28L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4029					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)										0.387755	112.742122	113.818622	38	60	KEEP	---	---	---	---	capture		Silent	SNP	12475197	12475197	17759	1	C	T	T	T	415	32	VPS13D	2	2
AADACL3	126767	broad.mit.edu	37	1	12785656	12785656	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12785656C>A	uc009vnn.1	+	c.746C>A	c.(745-747)CCC>CAC	p.P249H	AADACL3_uc001aug.1_Missense_Mutation_p.P179H	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	249							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)										0.391534	208.206674	210.153305	74	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12785656	12785656	13	1	C	A	A	A	286	22	AADACL3	2	2
PDE4DIP	9659	broad.mit.edu	37	1	144946727	144946727	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:144946727C>T	uc001elw.3	-	c.534G>A	c.(532-534)CTG>CTA	p.L178L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L244L|PDE4DIP_uc001emc.1_Silent_p.L178L|PDE4DIP_uc001emd.1_Silent_p.L178L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	178	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)						595				0.202381	36.323905	43.239337	17	67	KEEP	---	---	---	---	capture		Silent	SNP	144946727	144946727	12064	1	C	T	T	T	366	29	PDE4DIP	2	2
OTUD7B	56957	broad.mit.edu	37	1	149943104	149943104	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149943104G>T	uc001etn.2	-	c.161C>A	c.(160-162)CCA>CAA	p.P54Q	OTUD7B_uc001eto.2_Missense_Mutation_p.H20N	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	54					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding				0	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)											0.292035	85.40389	89.798718	33	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149943104	149943104	11732	1	G	T	T	T	611	47	OTUD7B	2	2
CGN	57530	broad.mit.edu	37	1	151499485	151499485	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151499485G>T	uc009wmw.2	+	c.1798G>T	c.(1798-1800)GAA>TAA	p.E600*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	594	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.056818	-8.59628	9.558183	5	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151499485	151499485	3436	1	G	T	T	T	533	41	CGN	5	2
LINGO4	339398	broad.mit.edu	37	1	151774293	151774293	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151774293G>T	uc001ezf.1	-	c.888C>A	c.(886-888)CTC>CTA	p.L296L		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	296	Extracellular (Potential).|LRR 9.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.166667	18.38039	25.338782	11	55	KEEP	---	---	---	---	capture		Silent	SNP	151774293	151774293	9144	1	G	T	T	T	574	45	LINGO4	2	2
TCHH	7062	broad.mit.edu	37	1	152083102	152083102	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152083102C>T	uc001ezp.2	-	c.2591G>A	c.(2590-2592)CGA>CAA	p.R864Q	TCHH_uc009wne.1_Missense_Mutation_p.R864Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	864					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)											0.096591	10.739314	39.361778	17	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152083102	152083102	16226	1	C	T	T	T	403	31	TCHH	1	1
HRNR	388697	broad.mit.edu	37	1	152193383	152193383	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152193383G>T	uc001ezt.1	-	c.722C>A	c.(721-723)TCC>TAC	p.S241Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	241	2.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.364286	138.284237	140.553484	51	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152193383	152193383	7653	1	G	T	T	T	533	41	HRNR	2	2
KPRP	448834	broad.mit.edu	37	1	152733201	152733201	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152733201C>G	uc001fal.1	+	c.1137C>G	c.(1135-1137)CTC>CTG	p.L379L		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	379	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)											0.202381	43.752832	50.644722	17	67	KEEP	---	---	---	---	capture		Silent	SNP	152733201	152733201	8751	1	C	G	G	G	379	30	KPRP	3	3
ATP8B2	57198	broad.mit.edu	37	1	154318893	154318893	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154318893G>A	uc001fex.2	+	c.3064G>A	c.(3064-3066)GAC>AAC	p.D1022N		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1008	Extracellular (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.147887	30.380113	47.290585	21	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154318893	154318893	1214	1	G	A	A	A	585	45	ATP8B2	2	2
ADAR	103	broad.mit.edu	37	1	154575013	154575013	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154575013G>A	uc001ffh.2	-	c.105C>T	c.(103-105)TCC>TCT	p.S35S	ADAR_uc001ffj.2_Silent_p.S35S|ADAR_uc001ffi.2_Silent_p.S35S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.1_Silent_p.S35S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	35					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)	5	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)										0.201031	85.030492	101.14344	39	155	KEEP	---	---	---	---	capture		Silent	SNP	154575013	154575013	282	1	G	A	A	A	548	43	ADAR	2	2
RUSC1	23623	broad.mit.edu	37	1	155292331	155292331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155292331G>A	uc001fkj.2	+	c.767G>A	c.(766-768)TGG>TAG	p.W256*	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Nonsense_Mutation_p.W256*|RUSC1_uc009wqn.1_Non-coding_Transcript|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	256						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)											0.441253	508.921751	510.073279	169	214	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	155292331	155292331	14230	1	G	A	A	A	611	47	RUSC1	5	2
ASH1L	55870	broad.mit.edu	37	1	155324277	155324277	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155324277C>G	uc009wqq.2	-	c.7215G>C	c.(7213-7215)GGG>GGC	p.G2405G	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.G2400G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2405					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)											0.1	24.628956	62.977481	24	216	KEEP	---	---	---	---	capture		Silent	SNP	155324277	155324277	1060	1	C	G	G	G	379	30	ASH1L	3	3
GON4L	54856	broad.mit.edu	37	1	155721781	155721781	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155721781G>C	uc001flz.2	-	c.6443C>G	c.(6442-6444)TCC>TGC	p.S2148C	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.S2147C|GON4L_uc009wrh.1_Missense_Mutation_p.S2147C|GON4L_uc001fma.1_Missense_Mutation_p.S2148C	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	2148	Myb-like.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.151724	40.969962	57.8028	22	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155721781	155721781	6845	1	G	C	C	C	533	41	GON4L	3	3
GON4L	54856	broad.mit.edu	37	1	155722997	155722997	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155722997G>A	uc001flz.2	-	c.5840C>T	c.(5839-5841)TCA>TTA	p.S1947L	GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.S1947L|GON4L_uc009wrh.1_Missense_Mutation_p.S1947L|GON4L_uc001fma.1_Missense_Mutation_p.S1947L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1947					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.195122	32.157164	39.262549	16	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155722997	155722997	6845	1	G	A	A	A	585	45	GON4L	2	2
FCRL5	83416	broad.mit.edu	37	1	157509113	157509113	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157509113C>T	uc001fqu.2	-	c.1165G>A	c.(1165-1167)GAC>AAC	p.D389N	FCRL5_uc009wsm.2_Missense_Mutation_p.D389N|FCRL5_uc010phv.1_Missense_Mutation_p.D389N|FCRL5_uc010phw.1_Missense_Mutation_p.D304N|FCRL5_uc001fqv.1_Missense_Mutation_p.D389N|FCRL5_uc010phx.1_Missense_Mutation_p.D140N	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	389	Extracellular (Potential).|Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.060606	-9.960758	16.623304	8	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157509113	157509113	6035	1	C	T	T	T	390	30	FCRL5	2	2
OR10X1	128367	broad.mit.edu	37	1	158548743	158548743	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158548743C>G	uc010pin.1	-	c.947G>C	c.(946-948)AGA>ACA	p.R316T		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	316	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.128655	37.425155	60.397392	22	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158548743	158548743	11328	1	C	G	G	G	416	32	OR10X1	3	3
OR10X1	128367	broad.mit.edu	37	1	158549249	158549249	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158549249T>C	uc010pin.1	-	c.441A>G	c.(439-441)AGA>AGG	p.R147R		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	147	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.189474	33.186147	41.769979	18	77	KEEP	---	---	---	---	capture		Silent	SNP	158549249	158549249	11328	1	T	C	C	C	647	50	OR10X1	4	4
SPTA1	6708	broad.mit.edu	37	1	158631133	158631133	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158631133C>T	uc001fst.1	-	c.2531G>A	c.(2530-2532)AGC>AAC	p.S844N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	844	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.166667	45.574585	61.38532	25	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158631133	158631133	15630	1	C	T	T	T	364	28	SPTA1	2	2
MNDA	4332	broad.mit.edu	37	1	158813749	158813749	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158813749G>C	uc001fsz.1	+	c.407G>C	c.(406-408)AGA>ACA	p.R136T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	136	Nuclear localization signal (Potential).				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.063545	-16.527389	42.777765	19	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158813749	158813749	10067	1	G	C	C	C	429	33	MNDA	3	3
FBLIM1	54751	broad.mit.edu	37	1	16093972	16093972	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16093972G>A	uc001axg.1	+	c.352G>A	c.(352-354)GAA>AAA	p.E118K	FBLIM1_uc001axd.1_Missense_Mutation_p.E118K|FBLIM1_uc001axe.1_Missense_Mutation_p.E118K|FBLIM1_uc001axf.2_Non-coding_Transcript|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_001024215	NP_001019386	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform b	118	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)										0.428571	9.12435	9.155389	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16093972	16093972	5933	1	G	A	A	A	585	45	FBLIM1	2	2
NUF2	83540	broad.mit.edu	37	1	163325229	163325229	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163325229G>A	uc001gcq.1	+	c.1365G>A	c.(1363-1365)CTG>CTA	p.L455L	NUF2_uc001gcr.1_Silent_p.L455L|NUF2_uc009wvc.1_Silent_p.L408L	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	455	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.1	7.370287	28.160169	13	117	KEEP	---	---	---	---	capture		Silent	SNP	163325229	163325229	11152	1	G	A	A	A	574	45	NUF2	2	2
LMX1A	4009	broad.mit.edu	37	1	165173117	165173117	+	Nonstop_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165173117T>C	uc001gcy.1	-	c.1149A>G	c.(1147-1149)TGA>TGG	p.*383W	LMX1A_uc001gcz.1_Nonstop_Mutation_p.*383W|LMX1A_uc001gcw.1_Nonstop_Mutation_p.*101W|LMX1A_uc001gcx.1_Nonstop_Mutation_p.*134W	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	383					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.242424	42.565475	46.56039	16	50	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	165173117	165173117	9190	1	T	C	C	C	702	54	LMX1A	5	4
C1orf114	57821	broad.mit.edu	37	1	169390792	169390792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169390792G>A	uc001gga.1	-	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	C1orf114_uc001gfz.1_Nonsense_Mutation_p.Q293*|C1orf114_uc009wvq.1_Nonsense_Mutation_p.Q293*|C1orf114_uc001ggb.2_Nonsense_Mutation_p.Q293*|C1orf114_uc001ggc.1_Nonsense_Mutation_p.Q293*	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	293											0	all_hematologic(923;0.208)													0.226519	90.024391	102.426578	41	140	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169390792	169390792	2054	1	G	A	A	A	585	45	C1orf114	5	2
C1orf129	80133	broad.mit.edu	37	1	170964571	170964571	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170964571C>A	uc010plz.1	+	c.1236C>A	c.(1234-1236)TAC>TAA	p.Y412*	C1orf129_uc009wvy.2_Nonsense_Mutation_p.Y219*|C1orf129_uc001ghg.2_Nonsense_Mutation_p.Y412*	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 1	412							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.565217	208.450441	208.871869	65	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170964571	170964571	2063	1	C	A	A	A	220	17	C1orf129	5	2
C1orf129	80133	broad.mit.edu	37	1	170965731	170965731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170965731G>A	uc010plz.1	+	c.1421G>A	c.(1420-1422)TGG>TAG	p.W474*	C1orf129_uc009wvy.2_Nonsense_Mutation_p.W281*|C1orf129_uc001ghg.2_Nonsense_Mutation_p.W474*	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 1	474							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.271795	137.498788	146.649261	53	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170965731	170965731	2063	1	G	A	A	A	611	47	C1orf129	5	2
SDHB	6390	broad.mit.edu	37	1	17354337	17354337	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17354337C>T	uc001bae.2	-	c.447G>A	c.(445-447)CAG>CAA	p.Q149Q		NM_003000	NP_002991	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron	149					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)					74				0.166667	12.127037	15.919817	6	30	KEEP	---	---	---	---	capture		Silent	SNP	17354337	17354337	14451	1	C	T	T	T	259	20	SDHB	2	2
SERPINC1	462	broad.mit.edu	37	1	173883944	173883944	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173883944A>T	uc001gjt.2	-	c.155T>A	c.(154-156)ATG>AAG	p.M52K		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	52			M -> T (previously Whitechapel).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)							OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.193966	104.056088	124.319141	45	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173883944	173883944	14597	1	A	T	T	T	104	8	SERPINC1	3	3
CACYBP	27101	broad.mit.edu	37	1	174973839	174973839	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:174973839G>T	uc001gkj.1	+	c.105G>T	c.(103-105)AAG>AAT	p.K35N	CACYBP_uc001gki.1_5'UTR|CACYBP_uc010pmw.1_Missense_Mutation_p.K35N	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN	calcyclin binding protein isoform 1	35	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity				0														0.066116	-8.607001	15.051811	8	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174973839	174973839	2680	1	G	T	T	T	425	33	CACYBP	2	2
NPHS2	7827	broad.mit.edu	37	1	179526197	179526197	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179526197G>A	uc001gmq.3	-	c.703C>T	c.(703-705)CTT>TTT	p.L235F	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	235	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0														0.095238	2.967143	9.873999	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179526197	179526197	10987	1	G	A	A	A	429	33	NPHS2	2	2
CACNA1E	777	broad.mit.edu	37	1	181727929	181727929	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181727929G>C	uc001gow.2	+	c.4530G>C	c.(4528-4530)CTG>CTC	p.L1510L	CACNA1E_uc009wxs.2_Silent_p.L1398L|CACNA1E_uc001gox.1_Silent_p.L736L|CACNA1E_uc009wxt.2_Silent_p.L736L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1510	IV.|Extracellular (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.387387	142.102133	143.335005	43	68	KEEP	---	---	---	---	capture		Silent	SNP	181727929	181727929	2658	1	G	C	C	C	574	45	CACNA1E	3	3
IVNS1ABP	10625	broad.mit.edu	37	1	185270164	185270164	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185270164T>A	uc001grl.2	-	c.1060A>T	c.(1060-1062)ATG>TTG	p.M354L	IVNS1ABP_uc001gri.2_Missense_Mutation_p.M14L|IVNS1ABP_uc001grj.2_Missense_Mutation_p.M14L|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.M136L|IVNS1ABP_uc009wyk.2_Non-coding_Transcript|IVNS1ABP_uc001grm.2_Missense_Mutation_p.M14L	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	354	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				ovary(4)|central_nervous_system(1)	5														0.41573	114.86312	115.413896	37	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185270164	185270164	8234	1	T	A	A	A	637	49	IVNS1ABP	3	3
KIAA1751	85452	broad.mit.edu	37	1	1897883	1897883	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1897883G>T	uc009vkz.1	-	c.1328C>A	c.(1327-1329)GCC>GAC	p.A443D	KIAA1751_uc001aim.1_Missense_Mutation_p.A443D	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	443										pancreas(1)	1	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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)										0.705882	38.020781	38.686386	12	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1897883	1897883	8567	1	G	T	T	T	546	42	KIAA1751	2	2
CFHR1	3078	broad.mit.edu	37	1	196794678	196794678	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196794678C>A	uc001gtn.2	+	c.130C>A	c.(130-132)CAG>AAG	p.Q44K	CFHR1_uc001gtm.2_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	complement factor H-related 1 precursor	44	Sushi 1.				complement activation	extracellular space					0														0.348837	43.211867	44.079034	15	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196794678	196794678	3417	1	C	A	A	A	273	21	CFHR1	2	2
PTPRC	5788	broad.mit.edu	37	1	198723398	198723398	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198723398G>T	uc001gur.1	+	c.3504G>T	c.(3502-3504)AGG>AGT	p.R1168S	PTPRC_uc001gus.1_Missense_Mutation_p.R1120S|PTPRC_uc001gut.1_Missense_Mutation_p.R1007S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1168	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.070423	-2.979974	10.536449	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198723398	198723398	13254	1	G	T	T	T	555	43	PTPRC	2	2
CHI3L1	1116	broad.mit.edu	37	1	203151968	203151968	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203151968C>A	uc001gzi.2	-	c.478G>T	c.(478-480)GAA>TAA	p.E160*	FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Nonsense_Mutation_p.E160*	NM_001276	NP_001267	P36222	CH3L1_HUMAN	chitinase 3-like 1 precursor	160					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			pancreas(1)	1														0.302326	34.760116	36.259814	13	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	203151968	203151968	3474	1	C	A	A	A	403	31	CHI3L1	5	1
SRGAP2	23380	broad.mit.edu	37	1	206619503	206619503	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206619503G>C	uc001hdy.2	+	c.1696G>C	c.(1696-1698)GAG>CAG	p.E566Q	SRGAP2_uc010prt.1_Missense_Mutation_p.E489Q|SRGAP2_uc001hdx.2_Missense_Mutation_p.E566Q|SRGAP2_uc010pru.1_Missense_Mutation_p.E489Q|SRGAP2_uc010prv.1_Missense_Mutation_p.E490Q	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	653	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)													0.103774	5.974175	22.786723	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206619503	206619503	15660	1	G	C	C	C	429	33	SRGAP2	3	3
PIGR	5284	broad.mit.edu	37	1	207107855	207107855	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207107855C>T	uc001hez.2	-	c.1615G>A	c.(1615-1617)GAG>AAG	p.E539K	PIGR_uc009xbz.2_Missense_Mutation_p.E539K	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	539	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2														0.090909	1.418687	12.539085	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207107855	207107855	12321	1	C	T	T	T	377	29	PIGR	2	2
CR1	1378	broad.mit.edu	37	1	207791567	207791567	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207791567G>T	uc001hfx.2	+	c.7041G>T	c.(7039-7041)TGG>TGT	p.W2347C	CR1_uc001hfy.2_Missense_Mutation_p.W1897C	NM_000651	NP_000642	P17927	CR1_HUMAN	complement receptor 1 isoform S precursor	1897	Sushi 29.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.399267	308.707158	311.133567	109	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207791567	207791567	3979	1	G	T	T	T	533	41	CR1	2	2
CR1L	1379	broad.mit.edu	37	1	207851643	207851643	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207851643G>T	uc001hga.3	+	c.377_splice	c.e3+1	p.G126_splice	CR1L_uc001hfz.2_Splice_Site_SNP|CR1L_uc001hgb.1_Splice_Site_SNP	NM_175710	NP_783641			complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane					0														0.278481	55.953707	59.418632	22	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	207851643	207851643	3980	1	G	T	T	T	572	44	CR1L	5	2
EIF4G3	8672	broad.mit.edu	37	1	21183933	21183933	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21183933C>T	uc001bef.2	-	c.3242G>A	c.(3241-3243)CGG>CAG	p.R1081Q	EIF4G3_uc010odi.1_Missense_Mutation_p.R649Q|EIF4G3_uc010odj.1_Missense_Mutation_p.R1044Q|EIF4G3_uc009vpz.2_Missense_Mutation_p.R765Q|EIF4G3_uc001bec.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bed.2_Missense_Mutation_p.R1045Q|EIF4G3_uc001bee.2_Missense_Mutation_p.R1051Q	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1045					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.408654	530.036213	533.048819	170	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21183933	21183933	5229	1	C	T	T	T	299	23	EIF4G3	1	1
KCNK2	3776	broad.mit.edu	37	1	215345456	215345456	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215345456G>T	uc001hkq.2	+	c.753G>T	c.(751-753)TGG>TGT	p.W251C	KCNK2_uc001hko.2_Missense_Mutation_p.W247C|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Missense_Mutation_p.W236C	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	251							outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)									0.15	11.742446	18.796119	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215345456	215345456	8371	1	G	T	T	T	533	41	KCNK2	2	2
USH2A	7399	broad.mit.edu	37	1	216495260	216495260	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216495260G>A	uc001hku.1	-	c.1609C>T	c.(1609-1611)CTC>TTC	p.L537F	USH2A_uc001hkv.2_Missense_Mutation_p.L537F	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	537	Laminin EGF-like 1.|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)										0.084211	2.931001	19.60069	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216495260	216495260	17598	1	G	A	A	A	455	35	USH2A	2	2
OBSCN	84033	broad.mit.edu	37	1	228509487	228509487	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228509487A>T	uc009xez.1	+	c.14945A>T	c.(14944-14946)CAC>CTC	p.H4982L	OBSCN_uc001hsn.2_Missense_Mutation_p.H4982L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4982	Ig-like 48.				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				0.307692	21.991518	22.848015	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228509487	228509487	11217	1	A	T	T	T	78	6	OBSCN	3	3
OBSCN	84033	broad.mit.edu	37	1	228550383	228550383	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228550383C>T	uc009xez.1	+	c.18768C>T	c.(18766-18768)CCC>CCT	p.P6256P	OBSCN_uc001hsr.1_Silent_p.P885P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6256					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				0.666667	6.351791	6.424454	2	1	KEEP	---	---	---	---	capture		Silent	SNP	228550383	228550383	11217	1	C	T	T	T	301	24	OBSCN	2	2
URB2	9816	broad.mit.edu	37	1	229783448	229783448	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229783448C>T	uc001hts.1	+	c.4098C>T	c.(4096-4098)GTC>GTT	p.V1366V	URB2_uc009xfd.1_Silent_p.V1366V	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1366						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.170455	29.469845	38.510096	15	73	KEEP	---	---	---	---	capture		Silent	SNP	229783448	229783448	17587	1	C	T	T	T	405	32	URB2	2	2
PEX10	5192	broad.mit.edu	37	1	2339912	2339912	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2339912C>G	uc001ajg.2	-	c.579G>C	c.(577-579)AAG>AAC	p.K193N	PEX10_uc001ajh.2_Missense_Mutation_p.K193N	NM_153818	NP_722540	O60683	PEX10_HUMAN	peroxisome biogenesis factor 10 isoform 1	193					protein import into peroxisome matrix|protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GBM(12;9 508 1649 13619)								0.229167	29.999575	33.228169	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2339912	2339912	12158	1	C	G	G	G	415	32	PEX10	3	3
LUZP1	7798	broad.mit.edu	37	1	23418753	23418753	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23418753G>A	uc001bgk.2	-	c.2002C>T	c.(2002-2004)CTT>TTT	p.L668F	LUZP1_uc010odv.1_Missense_Mutation_p.L668F|LUZP1_uc001bgl.2_Missense_Mutation_p.L668F|LUZP1_uc001bgm.1_Missense_Mutation_p.L668F	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	668						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)										0.195918	104.853014	125.977937	48	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23418753	23418753	9462	1	G	A	A	A	429	33	LUZP1	2	2
ARID4B	51742	broad.mit.edu	37	1	235383692	235383692	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235383692C>T	uc001hwq.2	-	c.1332G>A	c.(1330-1332)GAG>GAA	p.E444E	ARID4B_uc001hwr.2_Silent_p.E444E|ARID4B_uc001hws.3_Silent_p.E444E|ARID4B_uc001hwt.3_Silent_p.E125E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	444	Glu-rich.				chromatin assembly or disassembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleus	chromatin binding|DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)											0.212121	17.41007	19.935528	7	26	KEEP	---	---	---	---	capture		Silent	SNP	235383692	235383692	935	1	C	T	T	T	415	32	ARID4B	2	2
C1orf213	148898	broad.mit.edu	37	1	23696036	23696036	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:23696036G>A	uc001bgw.2	+	c.246G>A	c.(244-246)GCG>GCA	p.A82A	ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Intron	NM_138479	NP_612488			hypothetical protein LOC148898 isoform 1												0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)										0.272727	24.078649	25.603689	9	24	KEEP	---	---	---	---	capture		Silent	SNP	23696036	23696036	2100	1	G	A	A	A	470	37	C1orf213	1	1
CHRM3	1131	broad.mit.edu	37	1	240071237	240071237	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240071237C>A	uc001hyp.2	+	c.486C>A	c.(484-486)ATC>ATA	p.I162I		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	162	Helical; Name=3; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.235294	44.960869	50.410042	20	65	KEEP	---	---	---	---	capture		Silent	SNP	240071237	240071237	3512	1	C	A	A	A	369	29	CHRM3	2	2
WDR64	128025	broad.mit.edu	37	1	241904851	241904851	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241904851G>C	uc001hzf.1	+	c.485G>C	c.(484-486)AGG>ACG	p.R162T	WDR64_uc001hze.1_Missense_Mutation_p.R442T	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	442	WD 5.										0	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)											0.085714	1.49854	7.586472	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241904851	241904851	17888	1	G	C	C	C	455	35	WDR64	3	3
EXO1	9156	broad.mit.edu	37	1	242045269	242045269	+	Missense_Mutation	SNP	A	C	C	rs111708150		TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242045269A>C	uc001hzh.2	+	c.2161A>C	c.(2161-2163)AAG>CAG	p.K721Q	EXO1_uc001hzi.2_Missense_Mutation_p.K721Q|EXO1_uc001hzj.2_Missense_Mutation_p.K721Q|EXO1_uc009xgq.2_Missense_Mutation_p.K720Q	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	721	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)											0.394737	50.718443	51.086568	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242045269	242045269	5493	1	A	C	C	C	65	5	EXO1	4	4
NLRP3	114548	broad.mit.edu	37	1	247587214	247587214	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587214C>T	uc001icr.2	+	c.469C>T	c.(469-471)CGT>TGT	p.R157C	NLRP3_uc001ics.2_Missense_Mutation_p.R157C|NLRP3_uc001icu.2_Missense_Mutation_p.R157C|NLRP3_uc001icw.2_Missense_Mutation_p.R157C|NLRP3_uc001icv.2_Missense_Mutation_p.R157C|NLRP3_uc010pyw.1_Missense_Mutation_p.R155C|NLRP3_uc001ict.1_Missense_Mutation_p.R155C	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.22449	26.503581	29.918896	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587214	247587214	10881	1	C	T	T	T	299	23	NLRP3	1	1
OR2W5	441932	broad.mit.edu	37	1	247655069	247655069	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247655069C>A	uc001icz.1	+	c.640C>A	c.(640-642)CAT>AAT	p.H214N		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	214					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)											0.228395	79.572425	90.559131	37	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247655069	247655069	11440	1	C	A	A	A	377	29	OR2W5	2	2
OR2C3	81472	broad.mit.edu	37	1	247695436	247695436	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695436G>T	uc009xgy.2	-	c.378C>A	c.(376-378)GCC>GCA	p.A126A	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,	126	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)											0.21875	15.711565	18.041451	7	25	KEEP	---	---	---	---	capture		Silent	SNP	247695436	247695436	11399	1	G	T	T	T	600	47	OR2C3	2	2
C1orf150	148823	broad.mit.edu	37	1	247737459	247737459	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247737459C>A	uc001idf.2	+	c.183C>A	c.(181-183)GGC>GGA	p.G61G	C1orf150_uc009xgw.2_Non-coding_Transcript|C1orf150_uc001ida.3_Non-coding_Transcript|C1orf150_uc001idb.3_Non-coding_Transcript|C1orf150_uc009xgx.2_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	61											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;0.0241)											0.304965	116.171527	120.956595	43	98	KEEP	---	---	---	---	capture		Silent	SNP	247737459	247737459	2071	1	C	A	A	A	314	25	C1orf150	2	2
OR2G2	81470	broad.mit.edu	37	1	247752138	247752138	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752138C>A	uc010pyy.1	+	c.477C>A	c.(475-477)ACC>ACA	p.T159T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	159	Helical; Name=4; (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)											0.248677	113.982143	124.8083	47	142	KEEP	---	---	---	---	capture		Silent	SNP	247752138	247752138	11404	1	C	A	A	A	275	22	OR2G2	2	2
OR13G1	441933	broad.mit.edu	37	1	247835855	247835855	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835855C>A	uc001idi.1	-	c.489G>T	c.(487-489)TTG>TTT	p.L163F		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	163	Extracellular (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)											0.129412	13.863134	25.232439	11	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247835855	247835855	11348	1	C	A	A	A	376	29	OR13G1	2	2
OR6F1	343169	broad.mit.edu	37	1	247875436	247875436	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247875436G>A	uc001idj.1	-	c.622C>T	c.(622-624)CTG>TTG	p.L208L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	208	Helical; Name=5; (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;0.0168)											0.2125	79.859798	92.086058	34	126	KEEP	---	---	---	---	capture		Silent	SNP	247875436	247875436	11611	1	G	A	A	A	451	35	OR6F1	2	2
OR6F1	343169	broad.mit.edu	37	1	247875814	247875814	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247875814G>T	uc001idj.1	-	c.244C>A	c.(244-246)CTG>ATG	p.L82M		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	82	Extracellular (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;0.0168)											0.315068	122.394611	126.838257	46	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247875814	247875814	11611	1	G	T	T	T	464	36	OR6F1	2	2
OR1C1	26188	broad.mit.edu	37	1	247921672	247921672	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247921672C>T	uc010pza.1	-	c.37G>A	c.(37-39)GTC>ATC	p.V13I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.128571	12.555254	21.939482	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247921672	247921672	11358	1	C	T	T	T	247	19	OR1C1	1	1
OR2M5	127059	broad.mit.edu	37	1	248309355	248309355	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248309355G>T	uc010pze.1	+	c.906G>T	c.(904-906)AGG>AGT	p.R302S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.176471	25.867261	34.261539	15	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248309355	248309355	11419	1	G	T	T	T	529	41	OR2M5	2	2
OR2M2	391194	broad.mit.edu	37	1	248343686	248343686	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343686C>A	uc010pzf.1	+	c.399C>A	c.(397-399)ACC>ACA	p.T133T		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	133	Cytoplasmic (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)											0.224771	117.956851	133.134209	49	169	KEEP	---	---	---	---	capture		Silent	SNP	248343686	248343686	11416	1	C	A	A	A	262	21	OR2M2	2	2
OR2T1	26696	broad.mit.edu	37	1	248569465	248569465	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569465C>A	uc010pzm.1	+	c.170C>A	c.(169-171)ACA>AAA	p.T57K		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	57	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.162602	40.42066	53.731971	20	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248569465	248569465	11422	1	C	A	A	A	221	17	OR2T1	2	2
OR2T34	127068	broad.mit.edu	37	1	248737473	248737473	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248737473C>T	uc001iep.1	-	c.586G>A	c.(586-588)GAC>AAC	p.D196N		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	196	Extracellular (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)											0.074205	-12.468252	40.268716	21	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248737473	248737473	11431	1	C	T	T	T	377	29	OR2T34	2	2
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789612G>C	uc001ier.1	-	c.818C>G	c.(817-819)GCC>GGC	p.A273G		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.238095	38.443424	42.360411	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248789612	248789612	11424	1	G	C	C	C	546	42	OR2T11	3	3
OR2T27	403239	broad.mit.edu	37	1	248813979	248813979	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813979C>A	uc010pzo.1	-	c.207G>T	c.(205-207)AGG>AGT	p.R69S		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	69	Helical; Name=2; (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)											0.266667	48.363091	52.054842	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248813979	248813979	11427	1	C	A	A	A	285	22	OR2T27	2	2
ZNF692	55657	broad.mit.edu	37	1	249149986	249149986	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249149986G>A	uc010pzr.1	-	c.834C>T	c.(832-834)GTC>GTT	p.V278V	ZNF692_uc001iez.1_5'UTR|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_Silent_p.V69V|ZNF692_uc001ifc.1_Silent_p.V273V|ZNF692_uc001ifd.1_Silent_p.V272V|ZNF692_uc001ife.1_Non-coding_Transcript|ZNF692_uc001iff.1_Silent_p.V228V	NM_001136036	NP_001129508	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 1	273					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)											0.102041	2.634314	10.388076	5	44	KEEP	---	---	---	---	capture		Silent	SNP	249149986	249149986	18692	1	G	A	A	A	574	45	ZNF692	2	2
RHCE	6006	broad.mit.edu	37	1	25701839	25701839	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25701839C>A	uc001bkf.2	-	c.1153_splice	c.e8+1	p.G385_splice	RHCE_uc001bkg.2_Splice_Site_SNP_p.R340_splice|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Splice_Site_SNP_p.G234_splice|RHCE_uc001bkj.2_Splice_Site_SNP_p.G369_splice	NM_020485	NP_065231			Rhesus blood group, CcEe antigens isoform 1							integral to plasma membrane	ammonium transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)										0.25	54.336684	59.10751	21	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25701839	25701839	13800	1	C	A	A	A	234	18	RHCE	5	2
EXTL1	2134	broad.mit.edu	37	1	26360187	26360188	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26360187_26360188GT>AA	uc001blf.2	+	c.1519_1520GT>AA	c.(1519-1521)GTG>AAG	p.V507K		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	507	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)										0.280702	40.778219	43.240935	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	26360187	26360188	5519	1	GT	AA	AA	AA	572	44	EXTL1	2	2
SFN	2810	broad.mit.edu	37	1	27189778	27189778	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27189778C>T	uc001bnc.1	+	c.75C>T	c.(73-75)TTC>TTT	p.F25F		NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	25					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)										0.146341	9.323534	14.252734	6	35	KEEP	---	---	---	---	capture		Silent	SNP	27189778	27189778	14648	1	C	T	T	T	376	29	SFN	2	2
KPNA6	23633	broad.mit.edu	37	1	32628050	32628050	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32628050T>C	uc010ogy.1	+	c.851T>C	c.(850-852)CTG>CCG	p.L284P	KPNA6_uc001bug.2_Missense_Mutation_p.L279P|KPNA6_uc001buh.2_Missense_Mutation_p.L54P|KPNA6_uc010ogx.1_Missense_Mutation_p.L276P|KPNA6_uc009vtz.2_Missense_Mutation_p.L174P	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	279	ARM 5.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.371429	66.147521	67.195	26	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32628050	32628050	8748	1	T	C	C	C	715	55	KPNA6	4	4
IQCC	55721	broad.mit.edu	37	1	32673606	32673606	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32673606C>T	uc009vua.2	+	c.1564C>T	c.(1564-1566)CTG>TTG	p.L522L	IQCC_uc001bum.2_Silent_p.L442L|IQCC_uc010ogz.1_Silent_p.L342L|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 1	442										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.105263	5.006247	13.837009	6	51	KEEP	---	---	---	---	capture		Silent	SNP	32673606	32673606	8105	1	C	T	T	T	415	32	IQCC	2	2
PRDM16	63976	broad.mit.edu	37	1	3347509	3347509	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3347509G>A	uc001akf.2	+	c.3358G>A	c.(3358-3360)GAG>AAG	p.E1120K	PRDM16_uc001akc.2_Missense_Mutation_p.E1119K|PRDM16_uc001akd.2_Missense_Mutation_p.E1119K|PRDM16_uc001ake.2_Missense_Mutation_p.E1120K|PRDM16_uc009vlh.2_Missense_Mutation_p.E820K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1120	Mediates interaction with SKI and regulation of TGF-beta signaling.				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)						1161				0.230769	7.417964	8.281668	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3347509	3347509	12899	1	G	A	A	A	533	41	PRDM16	2	2
GJA4	2701	broad.mit.edu	37	1	35260489	35260489	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35260489G>C	uc009vul.2	+	c.903G>C	c.(901-903)CTG>CTC	p.L301L	GJA4_uc001bya.2_Silent_p.L225L|GJA4_uc009vum.1_Silent_p.L225L	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	225	Helical; (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)												0.314286	32.013803	33.08716	11	24	KEEP	---	---	---	---	capture		Silent	SNP	35260489	35260489	6671	1	G	C	C	C	587	46	GJA4	3	3
ZMPSTE24	10269	broad.mit.edu	37	1	40737629	40737629	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40737629G>C	uc001cfg.2	+	c.691G>C	c.(691-693)GAG>CAG	p.E231Q		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	231						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	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;6.3e-18)											0.206897	16.233262	18.542189	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40737629	40737629	18289	1	G	C	C	C	585	45	ZMPSTE24	3	3
OSBPL9	114883	broad.mit.edu	37	1	52227619	52227619	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52227619C>G	uc001csu.2	+	c.784C>G	c.(784-786)CAG>GAG	p.Q262E	OSBPL9_uc001css.2_Missense_Mutation_p.Q257E|OSBPL9_uc001csx.2_Non-coding_Transcript|OSBPL9_uc009vza.2_Missense_Mutation_p.Q253E|OSBPL9_uc001cst.2_Missense_Mutation_p.Q252E|OSBPL9_uc001csv.2_Missense_Mutation_p.Q87E|OSBPL9_uc001csw.2_Missense_Mutation_p.Q239E|OSBPL9_uc001csy.2_Missense_Mutation_p.Q74E|OSBPL9_uc001csz.2_Missense_Mutation_p.Q74E|OSBPL9_uc001cta.2_Missense_Mutation_p.Q142E|OSBPL9_uc001ctb.2_Missense_Mutation_p.Q37E	NM_148909	NP_683707	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform f	252					lipid transport		lipid binding			central_nervous_system(1)	1														0.161905	37.706727	49.12066	17	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52227619	52227619	11695	1	C	G	G	G	377	29	OSBPL9	3	3
PRPF38A	84950	broad.mit.edu	37	1	52874343	52874343	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52874343G>A	uc001ctv.3	+	c.393G>A	c.(391-393)AAG>AAA	p.K131K	PRPF38A_uc001ctw.3_Intron	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	131					mRNA processing|RNA splicing	spliceosomal complex					0														0.214286	37.184947	42.462449	15	55	KEEP	---	---	---	---	capture		Silent	SNP	52874343	52874343	13010	1	G	A	A	A	425	33	PRPF38A	2	2
ZBTB48	3104	broad.mit.edu	37	1	6641242	6641242	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6641242G>A	uc009vmc.1	+	c.573G>A	c.(571-573)GGG>GGA	p.G191G	ZBTB48_uc001anx.2_Silent_p.G191G|ZBTB48_uc009vmd.1_Silent_p.G191G	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	191					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		Esophageal Squamous(125;1449 1657 4031 29866 49542)								0.181818	7.987931	10.079872	4	18	KEEP	---	---	---	---	capture		Silent	SNP	6641242	6641242	18136	1	G	A	A	A	522	41	ZBTB48	2	2
FAM73A	374986	broad.mit.edu	37	1	78326964	78326964	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78326964C>T	uc010ork.1	+	c.1331C>T	c.(1330-1332)ACC>ATC	p.T444I	FAM73A_uc001dhx.2_Missense_Mutation_p.T444I|FAM73A_uc010orl.1_Missense_Mutation_p.T406I|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	444						integral to membrane				ovary(1)	1				Colorectal(170;0.226)										0.444444	36.399306	36.471342	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78326964	78326964	5841	1	C	T	T	T	234	18	FAM73A	2	2
GIPC2	54810	broad.mit.edu	37	1	78511976	78511976	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78511976C>G	uc001dik.2	+	c.198C>G	c.(196-198)CTC>CTG	p.L66L		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	PDZ domain protein GIPC2	66						cytoplasm				ovary(1)	1														0.266667	11.493927	12.231088	4	11	KEEP	---	---	---	---	capture		Silent	SNP	78511976	78511976	6661	1	C	G	G	G	405	32	GIPC2	3	3
NOC2L	26155	broad.mit.edu	37	1	892383	892383	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:892383C>G	uc009vjq.2	-	c.377G>C	c.(376-378)GGA>GCA	p.G126A	NOC2L_uc001aby.3_5'UTR|NOC2L_uc001abz.3_Missense_Mutation_p.G126A	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	126						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)										0.315789	19.143888	19.716935	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	892383	892383	10916	1	C	G	G	G	390	30	NOC2L	3	3
PIK3CD	5293	broad.mit.edu	37	1	9783262	9783262	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9783262A>T	uc001aqe.3	+	c.2578A>T	c.(2578-2580)AAC>TAC	p.N860Y	PIK3CD_uc001aqb.3_Missense_Mutation_p.N836Y|PIK3CD_uc010oaf.1_Missense_Mutation_p.N835Y	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	836	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)						859				0.44	31.721108	31.79951	11	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9783262	9783262	12339	1	A	T	T	T	65	5	PIK3CD	3	3
CST8	10047	broad.mit.edu	37	20	23473696	23473696	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23473696C>A	uc002wth.1	+	c.333C>A	c.(331-333)TCC>TCA	p.S111S		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	111						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)													0.535032	264.904764	265.071979	84	73	KEEP	---	---	---	---	capture		Silent	SNP	23473696	23473696	4119	20	C	A	A	A	262	21	CST8	2	2
ZNF337	26152	broad.mit.edu	37	20	25656823	25656823	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:25656823C>T	uc002wva.2	-	c.1101G>A	c.(1099-1101)CAG>CAA	p.Q367Q	ZNF337_uc010ztg.1_Silent_p.Q335Q|ZNF337_uc002wvb.2_Silent_p.Q367Q|ZNF337_uc002wvc.2_Silent_p.Q367Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	367	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.142857	32.12945	48.484295	19	114	KEEP	---	---	---	---	capture		Silent	SNP	25656823	25656823	18445	20	C	T	T	T	415	32	ZNF337	2	2
HM13	81502	broad.mit.edu	37	20	30142619	30142619	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30142619T>C	uc002wwc.2	+	c.795T>C	c.(793-795)GAT>GAC	p.D265D	HM13_uc002wwd.2_Silent_p.D265D|HM13_uc002wwe.2_Silent_p.D265D|HM13_uc002wwf.2_Silent_p.D141D|HM13_uc010gdu.2_Silent_p.D141D	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 3	265	Helical; (Potential).	By similarity.		D->A: No effect on inhibitor binding; abolishes catalytic activity. Abolishes proteolysis of PSEN1.	membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)											0.101449	4.473779	15.409283	7	62	KEEP	---	---	---	---	capture		Silent	SNP	30142619	30142619	7508	20	T	C	C	C	660	51	HM13	4	4
TTLL9	164395	broad.mit.edu	37	20	30521613	30521613	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30521613C>T	uc010gdx.1	+	c.759C>T	c.(757-759)CTC>CTT	p.L253L	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.L155L|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	253	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.210526	31.651821	37.551009	16	60	KEEP	---	---	---	---	capture		Silent	SNP	30521613	30521613	17289	20	C	T	T	T	366	29	TTLL9	2	2
C20orf160	140706	broad.mit.edu	37	20	30617580	30617580	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30617580C>A	uc002wxf.2	+	c.1277C>A	c.(1276-1278)TCC>TAC	p.S426Y	C20orf160_uc002wxg.2_Silent_p.I29I	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	Error:Variant_position_missing_in_Q9NUG4_after_alignment										central_nervous_system(3)|ovary(1)	4														0.368421	54.957049	55.825374	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30617580	30617580	2170	20	C	A	A	A	390	30	C20orf160	2	2
TM9SF4	9777	broad.mit.edu	37	20	30729322	30729322	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30729322G>A	uc002wxj.2	+	c.252G>A	c.(250-252)CGG>CGA	p.R84R	TM9SF4_uc010ztr.1_Intron|TM9SF4_uc010zts.1_Intron|TM9SF4_uc002wxk.2_Silent_p.R67R|TM9SF4_uc010gdz.2_5'Flank	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	84						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)											0.234043	25.002814	28.044262	11	36	KEEP	---	---	---	---	capture		Silent	SNP	30729322	30729322	16510	20	G	A	A	A	522	41	TM9SF4	2	2
POFUT1	23509	broad.mit.edu	37	20	30816238	30816238	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30816238C>G	uc002wxp.2	+	c.715C>G	c.(715-717)CTG>GTG	p.L239V	POFUT1_uc010ztt.1_Missense_Mutation_p.L131V|POFUT1_uc010ztu.1_Missense_Mutation_p.L28V	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1 isoform 1	239					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)	1			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)											0.105263	4.470851	10.356473	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30816238	30816238	12611	20	C	G	G	G	415	32	POFUT1	3	3
C20orf112	140688	broad.mit.edu	37	20	31044011	31044011	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31044011C>T	uc002wxu.3	-	c.297G>A	c.(295-297)ACG>ACA	p.T99T	C20orf112_uc010gec.2_5'UTR	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	99											0														0.333333	40.777645	41.962279	16	32	KEEP	---	---	---	---	capture		Silent	SNP	31044011	31044011	2157	20	C	T	T	T	288	23	C20orf112	1	1
BPIL1	80341	broad.mit.edu	37	20	31604874	31604874	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31604874G>A	uc002wyj.2	+	c.543G>A	c.(541-543)GTG>GTA	p.V181V		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	181						extracellular region	lipid binding			large_intestine(1)|ovary(1)	2														0.35906	287.629475	292.846435	107	191	KEEP	---	---	---	---	capture		Silent	SNP	31604874	31604874	1519	20	G	A	A	A	587	46	BPIL1	2	2
ITCH	83737	broad.mit.edu	37	20	33033185	33033185	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33033185C>G	uc010geu.1	+	c.1182C>G	c.(1180-1182)GTC>GTG	p.V394V	ITCH_uc002xak.2_Silent_p.V353V|ITCH_uc010zuj.1_Silent_p.V243V	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	394					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity				0														0.216418	72.101522	82.043979	29	105	KEEP	---	---	---	---	capture		Silent	SNP	33033185	33033185	8172	20	C	G	G	G	379	30	ITCH	3	3
EPB41L1	2036	broad.mit.edu	37	20	34807691	34807691	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34807691G>A	uc010gfq.2	+	c.2658G>A	c.(2656-2658)GGG>GGA	p.G886G	EPB41L1_uc002xeu.2_Silent_p.G686G|EPB41L1_uc002xev.2_Silent_p.G787G|EPB41L1_uc002xew.2_Silent_p.G679G|EPB41L1_uc002xex.2_Silent_p.G608G|EPB41L1_uc002xey.2_Silent_p.G538G|EPB41L1_uc002xez.2_Silent_p.G686G|EPB41L1_uc002xfb.2_Silent_p.G788G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	788	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.081967	0.181063	32.647491	15	168	KEEP	---	---	---	---	capture		Silent	SNP	34807691	34807691	5345	20	G	A	A	A	522	41	EPB41L1	2	2
CTNNBL1	56259	broad.mit.edu	37	20	36407683	36407683	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36407683A>T	uc010zvw.1	+	c.977A>T	c.(976-978)AAT>ATT	p.N326I	CTNNBL1_uc002xhh.2_Missense_Mutation_p.N139I|CTNNBL1_uc002xhi.2_Non-coding_Transcript|CTNNBL1_uc002xhj.2_Missense_Mutation_p.N74I	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	326					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				Ovarian(184;582 2038 3273 4106 42608)								0.128378	25.12719	45.040575	19	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36407683	36407683	4177	20	A	T	T	T	52	4	CTNNBL1	3	3
KIAA0406	9675	broad.mit.edu	37	20	36631042	36631042	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36631042T>G	uc002xhl.2	-	c.2640A>C	c.(2638-2640)CAA>CAC	p.Q880H	KIAA0406_uc002xhm.2_Missense_Mutation_p.Q880H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	880							binding				0		Myeloproliferative disorder(115;0.00874)												0.050633	-8.46477	8.4417	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36631042	36631042	8480	20	T	G	G	G	829	64	KIAA0406	4	4
PTPRT	11122	broad.mit.edu	37	20	40864877	40864877	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40864877G>A	uc010ggj.2	-	c.2391C>T	c.(2389-2391)TCC>TCT	p.S797S	PTPRT_uc002xkg.2_Silent_p.S778S	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	778	Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.167939	46.264319	59.951445	22	109	KEEP	---	---	---	---	capture		Silent	SNP	40864877	40864877	13270	20	G	A	A	A	444	35	PTPRT	2	2
PTPRT	11122	broad.mit.edu	37	20	40877404	40877404	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40877404C>T	uc010ggj.2	-	c.2292G>A	c.(2290-2292)GTG>GTA	p.V764V	PTPRT_uc002xkg.2_Silent_p.V745V	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	745	Extracellular (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.111111	9.916737	26.073453	12	96	KEEP	---	---	---	---	capture		Silent	SNP	40877404	40877404	13270	20	C	T	T	T	366	29	PTPRT	2	2
STK4	6789	broad.mit.edu	37	20	43629042	43629042	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43629042G>A	uc002xnb.2	+	c.841G>A	c.(841-843)GTC>ATC	p.V281I	STK4_uc010ggx.2_Missense_Mutation_p.V281I|STK4_uc010ggy.2_Missense_Mutation_p.V226I|STK4_uc010ggw.1_Missense_Mutation_p.V281I	NM_006282	NP_006273	Q13043	STK4_HUMAN	serine/threonine kinase 4	281	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GBM(187;1039 2137 11798 21916 33213)				296				0.192308	31.677608	38.575918	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43629042	43629042	15826	20	G	A	A	A	624	48	STK4	2	2
WFDC3	140686	broad.mit.edu	37	20	44417687	44417687	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44417687C>G	uc002xpf.1	-	c.94G>C	c.(94-96)GAA>CAA	p.E32Q	DNTTIP1_uc002xpk.2_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3 precursor	32	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.055901	-14.533292	18.837031	9	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44417687	44417687	17927	20	C	G	G	G	416	32	WFDC3	3	3
EYA2	2139	broad.mit.edu	37	20	45702929	45702929	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45702929G>C	uc002xsn.2	+	c.631G>C	c.(631-633)GAG>CAG	p.E211Q	EYA2_uc002xsm.2_Missense_Mutation_p.E206Q|EYA2_uc010ghp.2_Missense_Mutation_p.E206Q|EYA2_uc002xso.2_Missense_Mutation_p.E206Q|EYA2_uc002xsp.2_Missense_Mutation_p.E206Q|EYA2_uc002xsq.2_Missense_Mutation_p.E206Q	NM_172113	NP_742111	O00167	EYA2_HUMAN	RecName: Full=Eyes absent homolog 2;          EC=3.1.3.48;	206					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				Pancreas(120;56 1725 18501 25218 43520)								0.182609	47.608093	58.484847	21	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45702929	45702929	5523	20	G	C	C	C	533	41	EYA2	3	3
PRNP	5621	broad.mit.edu	37	20	4680497	4680497	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4680497G>C	uc002wku.2	+	c.631G>C	c.(631-633)GAG>CAG	p.E211Q	PRNP_uc002wkv.2_Missense_Mutation_p.E211Q|PRNP_uc002wkw.2_Missense_Mutation_p.E211Q|PRNP_uc002wkx.2_Missense_Mutation_p.E211Q|PRNP_uc002wkt.1_Missense_Mutation_p.E181Q|PRNP_uc002wky.2_Missense_Mutation_p.E211Q|PRNP_uc010gbe.1_Missense_Mutation_p.E211Q	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	211	Interaction with GRB2, ERI3 and SYN1 (By similarity).		E -> Q (in CJD).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)									0.203704	28.595028	32.994803	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4680497	4680497	12987	20	G	C	C	C	585	45	PRNP	3	3
MC3R	4159	broad.mit.edu	37	20	54824869	54824869	+	Nonstop_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54824869T>C	uc002xxb.2	+	c.970T>C	c.(970-972)TAG>CAG	p.*324Q		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	324	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2			Colorectal(105;0.202)											0.063158	-8.438832	29.295445	12	178	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	54824869	54824869	9754	20	T	C	C	C	637	49	MC3R	5	4
ZNF831	128611	broad.mit.edu	37	20	57829709	57829709	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57829709A>T	uc002yan.2	+	c.4945A>T	c.(4945-4947)AGG>TGG	p.R1649W		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1649						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.090909	0.882934	25.027782	13	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57829709	57829709	18784	20	A	T	T	T	140	11	ZNF831	3	3
KCNQ2	3785	broad.mit.edu	37	20	62046308	62046308	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62046308C>T	uc002yey.1	-	c.1473G>A	c.(1471-1473)CGG>CGA	p.R491R	KCNQ2_uc002yez.1_Silent_p.R461R|KCNQ2_uc002yfa.1_Silent_p.R473R|KCNQ2_uc002yfb.1_Silent_p.R463R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	491	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.363636	23.59396	23.95392	8	14	KEEP	---	---	---	---	capture		Silent	SNP	62046308	62046308	8388	20	C	T	T	T	275	22	KCNQ2	2	2
KCNQ2	3785	broad.mit.edu	37	20	62046310	62046310	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62046310G>T	uc002yey.1	-	c.1471C>A	c.(1471-1473)CGG>AGG	p.R491R	KCNQ2_uc002yez.1_Silent_p.R461R|KCNQ2_uc002yfa.1_Silent_p.R473R|KCNQ2_uc002yfb.1_Silent_p.R463R	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	491	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)									0.409091	27.471838	27.630407	9	13	KEEP	---	---	---	---	capture		Silent	SNP	62046310	62046310	8388	20	G	T	T	T	506	39	KCNQ2	1	1
PCMTD2	55251	broad.mit.edu	37	20	62904848	62904848	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62904848G>T	uc002yil.3	+	c.981G>T	c.(979-981)CCG>CCT	p.P327P	PCMTD2_uc002yim.3_Silent_p.P300P	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	327						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)													0.244792	119.882936	131.239397	47	145	KEEP	---	---	---	---	capture		Silent	SNP	62904848	62904848	12007	20	G	T	T	T	496	39	PCMTD2	1	1
USP25	29761	broad.mit.edu	37	21	17214816	17214816	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:17214816C>G	uc011aby.1	+	c.2294C>G	c.(2293-2295)TCA>TGA	p.S765*	USP25_uc002yjy.1_Nonsense_Mutation_p.S765*|USP25_uc002yjz.1_Nonsense_Mutation_p.S765*|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	712	Potential.				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)										0.089744	3.362093	16.618084	7	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17214816	17214816	17619	21	C	G	G	G	377	29	USP25	5	3
JAM2	58494	broad.mit.edu	37	21	27071166	27071166	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27071166C>A	uc002ylp.1	+	c.572C>A	c.(571-573)ACA>AAA	p.T191K	JAM2_uc011ace.1_Missense_Mutation_p.T191K|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.T155K|JAM2_uc010glh.1_Non-coding_Transcript|JAM2_uc002ylr.1_Missense_Mutation_p.T191K|JAM2_uc010gli.1_Missense_Mutation_p.T191K	NM_021219	NP_067042	P57087	JAM2_HUMAN	junctional adhesion molecule 2 precursor	191	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction					0														0.193182	38.821283	46.55568	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27071166	27071166	8247	21	C	A	A	A	221	17	JAM2	2	2
ADAMTS5	11096	broad.mit.edu	37	21	28306902	28306902	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28306902C>A	uc002ymg.2	-	c.1572G>T	c.(1570-1572)CAG>CAT	p.Q524H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	524	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.166667	7.388331	9.914255	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28306902	28306902	270	21	C	A	A	A	311	24	ADAMTS5	2	2
GRIK1	2897	broad.mit.edu	37	21	30961209	30961209	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30961209G>T	uc011acs.1	-	c.1519C>A	c.(1519-1521)CAG>AAG	p.Q507K	GRIK1_uc002ynn.2_Missense_Mutation_p.Q492K|GRIK1_uc011act.1_Intron|GRIK1_uc002yno.1_Missense_Mutation_p.Q507K|GRIK1_uc010glq.1_Missense_Mutation_p.Q350K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.12069	9.200097	17.367767	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30961209	30961209	7052	21	G	T	T	T	611	47	GRIK1	2	2
CLDN17	26285	broad.mit.edu	37	21	31538603	31538603	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538603G>T	uc011acv.1	-	c.333C>A	c.(331-333)AAC>AAA	p.N111K		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	111	Cytoplasmic (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														0.076923	0.522038	19.481476	8	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538603	31538603	3614	21	G	T	T	T	516	40	CLDN17	1	1
KRTAP27-1	643812	broad.mit.edu	37	21	31709560	31709560	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31709560G>A	uc002ynx.1	-	c.427C>T	c.(427-429)CCC>TCC	p.P143S		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	143						intermediate filament				ovary(2)	2														0.114458	19.202981	43.537892	19	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31709560	31709560	8866	21	G	A	A	A	572	44	KRTAP27-1	2	2
KRTAP13-3	337960	broad.mit.edu	37	21	31798064	31798064	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31798064C>G	uc002yob.1	-	c.167G>C	c.(166-168)TGT>TCT	p.C56S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	56	5 X 10 AA approximate repeats.|2.					intermediate filament				ovary(1)|lung(1)	2														0.307692	35.785288	37.071047	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31798064	31798064	8839	21	C	G	G	G	221	17	KRTAP13-3	3	3
KRTAP13-3	337960	broad.mit.edu	37	21	31798155	31798155	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31798155A>T	uc002yob.1	-	c.76T>A	c.(76-78)TGT>AGT	p.C26S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	26						intermediate filament				ovary(1)|lung(1)	2														0.30303	52.877161	55.163944	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31798155	31798155	8839	21	A	T	T	T	91	7	KRTAP13-3	3	3
KRTAP22-1	337979	broad.mit.edu	37	21	31973527	31973527	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31973527G>T	uc011add.1	+	c.88G>T	c.(88-90)GGC>TGC	p.G30C	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	30						intermediate filament					0														0.186813	34.122321	42.484113	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31973527	31973527	8860	21	G	T	T	T	611	47	KRTAP22-1	2	2
IFNAR2	3455	broad.mit.edu	37	21	34632984	34632984	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34632984G>T	uc002yrd.2	+	c.792G>T	c.(790-792)CTG>CTT	p.L264L	IFNAR2_uc002yrb.2_Silent_p.L264L|IFNAR2_uc002yrc.2_Silent_p.L264L|IFNAR2_uc002yre.2_Silent_p.L264L|IFNAR2_uc002yrf.2_Intron|IFNAR2_uc002yrg.2_Silent_p.L133L|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	interferon alpha/beta receptor 2 isoform a	264	Helical; (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)									0.114754	6.076779	15.006701	7	54	KEEP	---	---	---	---	capture		Silent	SNP	34632984	34632984	7846	21	G	T	T	T	574	45	IFNAR2	2	2
ITSN1	6453	broad.mit.edu	37	21	35147373	35147373	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:35147373G>A	uc002yta.1	+	c.1557G>A	c.(1555-1557)TTG>TTA	p.L519L	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Non-coding_Transcript|ITSN1_uc002ysz.2_Silent_p.L519L|ITSN1_uc010gmg.2_Silent_p.L482L|ITSN1_uc010gmh.2_Non-coding_Transcript|ITSN1_uc002ysw.2_Silent_p.L519L|ITSN1_uc010gmi.2_Silent_p.L482L|ITSN1_uc010gmj.2_Silent_p.L403L|ITSN1_uc002ysy.2_Silent_p.L519L|ITSN1_uc002ysx.2_Silent_p.L482L|ITSN1_uc002ytb.1_Silent_p.L519L|ITSN1_uc002ytc.1_Silent_p.L519L|ITSN1_uc002ytd.2_Non-coding_Transcript|ITSN1_uc010gmk.2_Silent_p.L482L|ITSN1_uc010gml.2_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.L519L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.2_Silent_p.L453L	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	519	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)	3														0.091954	3.733785	18.321439	8	79	KEEP	---	---	---	---	capture		Silent	SNP	35147373	35147373	8230	21	G	A	A	A	581	45	ITSN1	2	2
DOPEY2	9980	broad.mit.edu	37	21	37649349	37649349	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37649349C>T	uc002yvg.2	+	c.5663C>T	c.(5662-5664)TCA>TTA	p.S1888L	DOPEY2_uc011aeb.1_Missense_Mutation_p.S1837L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1888					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.063492	-13.41165	23.942782	12	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37649349	37649349	4892	21	C	T	T	T	377	29	DOPEY2	2	2
TTC3	7267	broad.mit.edu	37	21	38498419	38498419	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:38498419C>T	uc002yvz.2	+	c.1273C>T	c.(1273-1275)CAT>TAT	p.H425Y	TTC3_uc011aee.1_Missense_Mutation_p.H115Y|TTC3_uc002ywa.2_Missense_Mutation_p.H425Y|TTC3_uc002ywb.2_Missense_Mutation_p.H425Y|TTC3_uc010gnf.2_Missense_Mutation_p.H190Y|TTC3_uc002ywc.2_Missense_Mutation_p.H115Y|TTC3_uc011aed.1_Missense_Mutation_p.H115Y|TTC3_uc010gne.1_Missense_Mutation_p.H425Y	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	425					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3		Myeloproliferative disorder(46;0.0412)				Ovarian(38;194 1649 35661)								0.098592	2.269666	13.725582	7	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38498419	38498419	17252	21	C	T	T	T	377	29	TTC3	2	2
BACE2	25825	broad.mit.edu	37	21	42613778	42613778	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42613778C>G	uc002yyw.2	+	c.651C>G	c.(649-651)TCC>TCG	p.S217S	BACE2_uc002yyx.2_Silent_p.S217S|BACE2_uc002yyy.2_Silent_p.S217S	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	217	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)												0.064815	-7.563912	13.69478	7	101	KEEP	---	---	---	---	capture		Silent	SNP	42613778	42613778	1303	21	C	G	G	G	275	22	BACE2	3	3
KRTAP10-4	386672	broad.mit.edu	37	21	45994356	45994356	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45994356C>T	uc002zfk.1	+	c.721C>T	c.(721-723)CCT>TCT	p.P241S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	241	36 X 5 AA repeats of C-C-X(3).|22.					keratin filament					0														0.112994	17.201174	43.348474	20	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45994356	45994356	8826	21	C	T	T	T	338	26	KRTAP10-4	2	2
LSS	4047	broad.mit.edu	37	21	47647500	47647500	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47647500C>G	uc002zij.2	-	c.285G>C	c.(283-285)ACG>ACC	p.T95T	LSS_uc011afv.1_Silent_p.T95T|LSS_uc002zil.2_Silent_p.T95T|LSS_uc002zik.2_Silent_p.T15T|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	95					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					Pancreas(114;955 2313 34923 50507)								0.25	8.750403	9.901529	5	15	KEEP	---	---	---	---	capture		Silent	SNP	47647500	47647500	9441	21	C	G	G	G	288	23	LSS	3	3
MCM3AP	8888	broad.mit.edu	37	21	47660846	47660846	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47660846C>A	uc002zir.1	-	c.5512G>T	c.(5512-5514)GAG>TAG	p.E1838*	MCM3APAS_uc002zim.2_Non-coding_Transcript|MCM3APAS_uc002zin.2_Silent_p.L89L|MCM3AP_uc002zio.1_Nonsense_Mutation_p.E333*|MCM3AP_uc002zip.1_Nonsense_Mutation_p.E579*|MCM3AP_uc002ziq.1_Nonsense_Mutation_p.E765*|MCM3APAS_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1838					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)									639				0.087179	1.8335	35.468371	17	178	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47660846	47660846	9777	21	C	A	A	A	416	32	MCM3AP	5	2
XKR3	150165	broad.mit.edu	37	22	17280689	17280689	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17280689G>A	uc002zlv.2	-	c.561C>T	c.(559-561)CTC>CTT	p.L187L	XKR3_uc011agf.1_Silent_p.L187L	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	187	Helical; (Potential).					integral to membrane|plasma membrane				large_intestine(1)|ovary(1)	2	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.079208	-1.868476	34.66204	16	186	KEEP	---	---	---	---	capture		Silent	SNP	17280689	17280689	18013	22	G	A	A	A	574	45	XKR3	2	2
PI4KA	5297	broad.mit.edu	37	22	21159358	21159358	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21159358C>G	uc002zsz.3	-	c.1090G>C	c.(1090-1092)GAC>CAC	p.D364H	PI4KA_uc010gsq.1_Missense_Mutation_p.D422H	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	364					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|salivary_gland(1)	3	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GBM(136;1332 1831 3115 23601 50806)				873				0.083333	1.192071	13.897763	6	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21159358	21159358	12297	22	C	G	G	G	416	32	PI4KA	3	3
ZNF70	7621	broad.mit.edu	37	22	24087219	24087219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24087219G>A	uc002zxs.2	-	c.109C>T	c.(109-111)CAG>TAG	p.Q37*	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	37					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.093168	3.188767	30.039542	15	146	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24087219	24087219	18698	22	G	A	A	A	585	45	ZNF70	5	2
CABIN1	23523	broad.mit.edu	37	22	24458476	24458476	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24458476A>T	uc002zzi.1	+	c.1684A>T	c.(1684-1686)AGA>TGA	p.R562*	CABIN1_uc002zzj.1_Nonsense_Mutation_p.R512*|CABIN1_uc002zzl.1_Nonsense_Mutation_p.R562*	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	562					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.190476	18.074708	21.836608	8	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24458476	24458476	2644	22	A	T	T	T	88	7	CABIN1	5	3
CABIN1	23523	broad.mit.edu	37	22	24487774	24487774	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:24487774G>C	uc002zzi.1	+	c.3763G>C	c.(3763-3765)GAG>CAG	p.E1255Q	CABIN1_uc002zzj.1_Missense_Mutation_p.E1205Q|CABIN1_uc002zzl.1_Missense_Mutation_p.E1255Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1255					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.428571	40.397178	40.521461	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24487774	24487774	2644	22	G	C	C	C	585	45	CABIN1	3	3
MYO18B	84700	broad.mit.edu	37	22	26177727	26177728	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26177727_26177728GG>TT	uc003abz.1	+	c.2238_2239GG>TT	c.(2236-2241)GTGGCA>GTTTCA	p.A747S	MYO18B_uc003aca.1_Missense_Mutation_p.A628S|MYO18B_uc010guy.1_Missense_Mutation_p.A628S|MYO18B_uc010guz.1_Missense_Mutation_p.A628S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A260S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	747	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				0.555556	15.774835	15.798881	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	26177727	26177728	10461	22	GG	TT	TT	TT	600	47	MYO18B	2	2
SEZ6L	23544	broad.mit.edu	37	22	26689003	26689003	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26689003G>A	uc003acb.2	+	c.726G>A	c.(724-726)CTG>CTA	p.L242L	SEZ6L_uc003acc.2_Silent_p.L242L|SEZ6L_uc011akc.1_Silent_p.L242L|SEZ6L_uc003acd.2_Silent_p.L242L|SEZ6L_uc011akd.1_Silent_p.L242L|SEZ6L_uc003ace.2_Silent_p.L242L|SEZ6L_uc003acf.1_Silent_p.L15L|SEZ6L_uc010gvc.1_Silent_p.L15L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	242	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.070707	-4.558315	14.266601	7	92	KEEP	---	---	---	---	capture		Silent	SNP	26689003	26689003	14632	22	G	A	A	A	574	45	SEZ6L	2	2
MTMR3	8897	broad.mit.edu	37	22	30416572	30416572	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30416572C>G	uc003agv.3	+	c.2924C>G	c.(2923-2925)TCT>TGT	p.S975C	MTMR3_uc003agu.3_Missense_Mutation_p.S975C|MTMR3_uc003agw.3_Missense_Mutation_p.S975C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	975					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|zinc ion binding			breast(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)											0.09375	3.199799	13.822164	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30416572	30416572	10338	22	C	G	G	G	416	32	MTMR3	3	3
PATZ1	23598	broad.mit.edu	37	22	31723239	31723239	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31723239G>A	uc003akq.2	-	c.1702C>T	c.(1702-1704)CTC>TTC	p.L568F	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.L522F	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2										104				0.065041	-6.201948	17.970131	8	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31723239	31723239	11896	22	G	A	A	A	455	35	PATZ1	2	2
APOBEC3D	140564	broad.mit.edu	37	22	39425497	39425497	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39425497C>T	uc011aoe.1	+	c.735C>T	c.(733-735)TTC>TTT	p.F245F	APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Silent_p.F245F|APOBEC3D_uc010gxu.2_Silent_p.F41F	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	245							hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)													0.119048	17.459918	35.393338	15	111	KEEP	---	---	---	---	capture		Silent	SNP	39425497	39425497	803	22	C	T	T	T	389	30	APOBEC3D	2	2
FAM83F	113828	broad.mit.edu	37	22	40415202	40415202	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40415202G>A	uc003ayk.1	+	c.520G>A	c.(520-522)GAT>AAT	p.D174N		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	174										breast(1)	1														0.133333	9.554937	17.391069	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40415202	40415202	5864	22	G	A	A	A	585	45	FAM83F	2	2
TNRC6B	23112	broad.mit.edu	37	22	40521834	40521834	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40521834G>A	uc003aym.2	+	c.13G>A	c.(13-15)GAG>AAG	p.E5K		NM_001024843	NP_001020014	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 3	Error:Variant_position_missing_in_Q9UPQ9_after_alignment					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0										794				0.053333	-7.866754	7.932704	4	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40521834	40521834	16882	22	G	A	A	A	585	45	TNRC6B	2	2
XPNPEP3	63929	broad.mit.edu	37	22	41318433	41318433	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41318433C>T	uc003azh.2	+	c.1152C>T	c.(1150-1152)ATC>ATT	p.I384I	XPNPEP3_uc003azi.2_Silent_p.I305I|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	384					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						Ovarian(145;306 1841 7037 21878 30110)								0.126606	96.398456	170.543926	69	476	KEEP	---	---	---	---	capture		Silent	SNP	41318433	41318433	18027	22	C	T	T	T	408	32	XPNPEP3	2	2
EP300	2033	broad.mit.edu	37	22	41573857	41573857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41573857C>T	uc003azl.3	+	c.6142C>T	c.(6142-6144)CAA>TAA	p.Q2048*		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2048	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			central_nervous_system(5)|upper_aerodigestive_tract(3)|pancreas(2)|ovary(1)|lung(1)	12										1103				0.046809	-33.277517	18.232498	11	224	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	41573857	41573857	5341	22	C	T	T	T	377	29	EP300	5	2
SREBF2	6721	broad.mit.edu	37	22	42264729	42264729	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42264729G>C	uc003bbi.2	+	c.653G>C	c.(652-654)GGC>GCC	p.G218A	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	218	Cytoplasmic (Potential).|Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4														0.217391	12.464815	14.15677	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42264729	42264729	15656	22	G	C	C	C	546	42	SREBF2	3	3
IL18RAP	8807	broad.mit.edu	37	2	103040548	103040548	+	Silent	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103040548A>C	uc002tbx.2	+	c.348A>C	c.(346-348)CCA>CCC	p.P116P	IL18RAP_uc010fiz.2_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	116	Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			ovary(2)	2														0.0625	-6.292604	9.670935	5	75	KEEP	---	---	---	---	capture		Silent	SNP	103040548	103040548	7949	2	A	C	C	C	80	7	IL18RAP	4	4
SLC9A4	389015	broad.mit.edu	37	2	103120023	103120023	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103120023G>T	uc002tbz.3	+	c.837G>T	c.(835-837)TTG>TTT	p.L279F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	279	Helical; Name=H/M6; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.253333	39.077791	43.331785	19	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103120023	103120023	15213	2	G	T	T	T	620	48	SLC9A4	2	2
SLC9A2	6549	broad.mit.edu	37	2	103321031	103321031	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103321031C>T	uc002tca.2	+	c.1874C>T	c.(1873-1875)ACA>ATA	p.T625I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	625	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|breast(2)	5														0.074074	-3.011359	12.082007	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103321031	103321031	15209	2	C	T	T	T	221	17	SLC9A2	2	2
MRPS9	64965	broad.mit.edu	37	2	105710042	105710042	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:105710042G>A	uc002tcn.3	+	c.875G>A	c.(874-876)AGA>AAA	p.R292K		NM_182640	NP_872578	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9 precursor	292					DNA damage response, detection of DNA damage|peptide biosynthetic process|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0														0.070588	-4.017019	12.154438	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105710042	105710042	10242	2	G	A	A	A	429	33	MRPS9	2	2
ST6GAL2	84620	broad.mit.edu	37	2	107423274	107423274	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:107423274G>T	uc002tdq.2	-	c.1450C>A	c.(1450-1452)CCA>ACA	p.P484T	ST6GAL2_uc002tdr.2_Missense_Mutation_p.P484T	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	484	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(3)	9														0.458333	66.045849	66.118199	22	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107423274	107423274	15740	2	G	T	T	T	559	43	ST6GAL2	2	2
BUB1	699	broad.mit.edu	37	2	111395586	111395586	+	Silent	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:111395586A>G	uc002tgc.2	-	c.3213T>C	c.(3211-3213)AAT>AAC	p.N1071N	BUB1_uc010yxh.1_Silent_p.N1051N|BUB1_uc010fkb.2_Silent_p.N1014N	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	1071	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				0.054455	-16.534983	25.710593	11	191	KEEP	---	---	---	---	capture		Silent	SNP	111395586	111395586	1604	2	A	G	G	G	206	16	BUB1	4	4
FBLN7	129804	broad.mit.edu	37	2	112942902	112942902	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112942902G>A	uc002tho.1	+	c.933G>A	c.(931-933)GTG>GTA	p.V311V	FBLN7_uc002thn.2_Silent_p.V311V|FBLN7_uc010fki.1_Silent_p.V265V|FBLN7_uc010fkj.1_Silent_p.V177V	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	311	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2														0.059701	-5.257164	8.332709	4	63	KEEP	---	---	---	---	capture		Silent	SNP	112942902	112942902	5937	2	G	A	A	A	574	45	FBLN7	2	2
POLR1B	84172	broad.mit.edu	37	2	113331230	113331230	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113331230G>C	uc010yxn.1	+	c.2477G>C	c.(2476-2478)GGA>GCA	p.G826A	POLR1B_uc002thw.2_Missense_Mutation_p.G788A|POLR1B_uc010fkn.2_Missense_Mutation_p.G732A|POLR1B_uc002thx.2_Missense_Mutation_p.G649A|POLR1B_uc010fko.2_Missense_Mutation_p.G605A|POLR1B_uc010fkp.2_Missense_Mutation_p.G227A|POLR1B_uc002thy.2_Missense_Mutation_p.G649A|POLR1B_uc010yxo.1_Missense_Mutation_p.G565A	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	788					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						Ovarian(16;256 576 9537 23969 41147)								0.061728	-9.475176	22.980342	10	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113331230	113331230	12638	2	G	C	C	C	533	41	POLR1B	3	3
GREB1	9687	broad.mit.edu	37	2	11716528	11716528	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11716528C>T	uc002rbk.1	+	c.504C>T	c.(502-504)TTC>TTT	p.F168F	GREB1_uc002rbl.2_Silent_p.F168F|GREB1_uc002rbm.2_Silent_p.F58F|GREB1_uc002rbn.1_Silent_p.F168F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	168						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		Ovarian(39;850 945 2785 23371 33093)								0.109589	4.923925	16.069987	8	65	KEEP	---	---	---	---	capture		Silent	SNP	11716528	11716528	7037	2	C	T	T	T	376	29	GREB1	2	2
PCDP1	200373	broad.mit.edu	37	2	120388169	120388169	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120388169G>A	uc002tmb.2	+	c.897G>A	c.(895-897)AAG>AAA	p.K299K	PCDP1_uc010yyq.1_Silent_p.K429K	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	585						cilium	calmodulin binding				0	Colorectal(110;0.196)													0.120879	12.327881	25.27379	11	80	KEEP	---	---	---	---	capture		Silent	SNP	120388169	120388169	11992	2	G	A	A	A	425	33	PCDP1	2	2
TSN	7247	broad.mit.edu	37	2	122522735	122522735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122522735C>A	uc002tnl.2	+	c.479C>A	c.(478-480)ACT>AAT	p.T160N	TSN_uc002tnm.2_Missense_Mutation_p.T113N|TSN_uc010yze.1_Missense_Mutation_p.D133E|TSN_uc010flt.2_Non-coding_Transcript	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	160					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)												0.067834	-25.031658	63.322956	31	426	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122522735	122522735	17180	2	C	A	A	A	260	20	TSN	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125521317	125521317	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125521317C>A	uc010flu.2	+	c.2303C>A	c.(2302-2304)ACC>AAC	p.T768N	CNTNAP5_uc002tno.2_Missense_Mutation_p.T767N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	767	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.298507	108.495575	113.331431	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125521317	125521317	3788	2	C	A	A	A	234	18	CNTNAP5	2	2
GYPC	2995	broad.mit.edu	37	2	127447840	127447840	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:127447840C>A	uc002tnq.2	+	c.59C>A	c.(58-60)CCG>CAG	p.P20Q	GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_Non-coding_Transcript	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	20	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		Melanoma(110;806 1600 6704 9981 33404)								0.269231	36.06855	38.541756	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127447840	127447840	7190	2	C	A	A	A	299	23	GYPC	1	1
POTEE	445582	broad.mit.edu	37	2	132021733	132021733	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132021733C>A	uc002tsn.2	+	c.2705C>A	c.(2704-2706)ACC>AAC	p.T902N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.T502N|POTEE_uc002tsl.2_Missense_Mutation_p.T484N|POTEE_uc010fmy.1_Missense_Mutation_p.T366N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	902	Actin-like.						ATP binding				0														0.156716	36.09321	51.162016	21	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132021733	132021733	12694	2	C	A	A	A	234	18	POTEE	2	2
FAM128A	653784	broad.mit.edu	37	2	132241788	132241788	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132241788C>T	uc002tsw.3	-	c.323G>A	c.(322-324)AGA>AAA	p.R108K	FAM128A_uc002tsv.3_Non-coding_Transcript	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	108						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)										0.066667	-3.123115	8.532984	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132241788	132241788	5631	2	C	T	T	T	416	32	FAM128A	2	2
LCT	3938	broad.mit.edu	37	2	136575241	136575241	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136575241C>A	uc002tuu.1	-	c.1377G>T	c.(1375-1377)CGG>CGT	p.R459R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	459	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.215686	21.009671	24.808011	11	40	KEEP	---	---	---	---	capture		Silent	SNP	136575241	136575241	9017	2	C	A	A	A	379	30	LCT	2	2
SPOPL	339745	broad.mit.edu	37	2	139316728	139316728	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139316728T>C	uc002tvh.2	+	c.617T>C	c.(616-618)GTG>GCG	p.V206A		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	206	BTB.					nucleus				breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0296)										0.072165	-3.854881	14.441767	7	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139316728	139316728	15598	2	T	C	C	C	767	59	SPOPL	4	4
NXPH2	11249	broad.mit.edu	37	2	139428518	139428518	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139428518C>T	uc002tvi.2	-	c.769G>A	c.(769-771)GAG>AAG	p.E257K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	257	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)										0.12069	16.962451	33.331526	14	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139428518	139428518	11196	2	C	T	T	T	377	29	NXPH2	2	2
LRP1B	53353	broad.mit.edu	37	2	141283911	141283911	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141283911A>C	uc002tvj.1	-	c.7771T>G	c.(7771-7773)TGT>GGT	p.C2591G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2591	Extracellular (Potential).|LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.06383	-8.831201	9.792865	6	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141283911	141283911	9328	2	A	C	C	C	91	7	LRP1B	4	4
LRP1B	53353	broad.mit.edu	37	2	141459407	141459407	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141459407C>A	uc002tvj.1	-	c.6310G>T	c.(6310-6312)GCA>TCA	p.A2104S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2104	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A2104S(1)		lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.403846	60.151585	60.574903	21	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141459407	141459407	9328	2	C	A	A	A	325	25	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141460100	141460101	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141460100_141460101CC>AA	uc002tvj.1	-	c.6045_6046GG>TT	c.(6043-6048)TGGGGA>TGTTGA	p.2015_2016WG>C*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2015_2016	Extracellular (Potential).|LDL-receptor class B 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.180328	23.46853	29.267695	11	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	141460100	141460101	9328	2	CC	AA	AA	AA	286	22	LRP1B	5	2
KYNU	8942	broad.mit.edu	37	2	143643024	143643024	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143643024G>T	uc002tvl.2	+	c.88G>T	c.(88-90)GCT>TCT	p.A30S	KYNU_uc002tvk.2_Missense_Mutation_p.A30S|KYNU_uc010fnm.2_Missense_Mutation_p.A30S	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	30					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.266667	19.88559	21.361632	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143643024	143643024	8910	2	G	T	T	T	546	42	KYNU	2	2
ZEB2	9839	broad.mit.edu	37	2	145156752	145156752	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145156752C>A	uc002tvu.2	-	c.2002G>T	c.(2002-2004)GAG>TAG	p.E668*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.E662*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.E639*|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E697*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	668	Homeobox; atypical.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.192308	30.385876	37.278516	15	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	145156752	145156752	18212	2	C	A	A	A	390	30	ZEB2	5	2
NEB	4703	broad.mit.edu	37	2	152484282	152484282	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152484282C>T	uc010fnx.2	-	c.9169G>A	c.(9169-9171)GAC>AAC	p.D3057N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3057	Nebulin 83.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.03886	-63.415807	25.276658	15	371	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152484282	152484282	10701	2	C	T	T	T	377	29	NEB	2	2
NEB	4703	broad.mit.edu	37	2	152531009	152531009	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152531009C>G	uc010fnx.2	-	c.3969G>C	c.(3967-3969)TCG>TCC	p.S1323S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1323	Nebulin 33.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.073684	-0.848388	16.893518	7	88	KEEP	---	---	---	---	capture		Silent	SNP	152531009	152531009	10701	2	C	G	G	G	392	31	NEB	3	3
NEB	4703	broad.mit.edu	37	2	152581406	152581406	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152581406C>T	uc010fnx.2	-	c.472G>A	c.(472-474)GAA>AAA	p.E158K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	158	Nebulin 3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.051546	-10.580511	10.040502	5	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152581406	152581406	10701	2	C	T	T	T	377	29	NEB	2	2
FMNL2	114793	broad.mit.edu	37	2	153471417	153471417	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:153471417T>A	uc002tye.2	+	c.1115T>A	c.(1114-1116)CTG>CAG	p.L372Q		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	372	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3														0.04023	-25.826157	13.804738	7	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153471417	153471417	6194	2	T	A	A	A	715	55	FMNL2	3	3
PKP4	8502	broad.mit.edu	37	2	159488402	159488402	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:159488402G>C	uc002tzv.2	+	c.1291G>C	c.(1291-1293)GGA>CGA	p.G431R	PKP4_uc002tzt.1_Missense_Mutation_p.G283R|PKP4_uc002tzu.2_Missense_Mutation_p.G431R|PKP4_uc002tzw.2_Missense_Mutation_p.G431R|PKP4_uc002tzx.2_Missense_Mutation_p.G89R|PKP4_uc002tzy.1_Missense_Mutation_p.G89R|PKP4_uc002tzz.1_Missense_Mutation_p.G429R|PKP4_uc002uaa.2_Missense_Mutation_p.G283R	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	431	ARM 1.				cell adhesion	desmosome	protein binding			ovary(5)	5														0.043165	-19.650528	11.441644	6	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159488402	159488402	12412	2	G	C	C	C	611	47	PKP4	3	3
PKP4	8502	broad.mit.edu	37	2	159519835	159519835	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:159519835G>C	uc002tzv.2	+	c.2455G>C	c.(2455-2457)GAG>CAG	p.E819Q	PKP4_uc002tzu.2_Missense_Mutation_p.E819Q|PKP4_uc002tzw.2_Missense_Mutation_p.E819Q|PKP4_uc002tzx.2_Missense_Mutation_p.E476Q|PKP4_uc002uaa.2_Missense_Mutation_p.E671Q|PKP4_uc002uac.2_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	819	ARM 7.				cell adhesion	desmosome	protein binding			ovary(5)	5														0.105263	13.913287	31.569732	12	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159519835	159519835	12412	2	G	C	C	C	585	45	PKP4	3	3
BAZ2B	29994	broad.mit.edu	37	2	160206251	160206251	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160206251C>A	uc002uao.2	-	c.4831G>T	c.(4831-4833)GGC>TGC	p.G1611C	BAZ2B_uc002uap.2_Missense_Mutation_p.G1575C	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.246575	89.107673	97.665824	36	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160206251	160206251	1353	2	C	A	A	A	273	21	BAZ2B	2	2
BAZ2B	29994	broad.mit.edu	37	2	160289774	160289774	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160289774G>C	uc002uao.2	-	c.1394C>G	c.(1393-1395)TCT>TGT	p.S465C	BAZ2B_uc002uap.2_Missense_Mutation_p.S463C|BAZ2B_uc002uas.1_Missense_Mutation_p.S402C|BAZ2B_uc002uaq.1_Missense_Mutation_p.S393C|BAZ2B_uc002uar.1_Missense_Mutation_p.S38C	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.040268	-42.643679	25.198517	12	286	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160289774	160289774	1353	2	G	C	C	C	429	33	BAZ2B	3	3
KCNH7	90134	broad.mit.edu	37	2	163241425	163241425	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163241425T>A	uc002uch.1	-	c.2735A>T	c.(2734-2736)GAC>GTC	p.D912V		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	912	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.4	128.234775	129.237389	46	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163241425	163241425	8342	2	T	A	A	A	754	58	KCNH7	3	3
KCNH7	90134	broad.mit.edu	37	2	163256901	163256901	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163256901G>C	uc002uch.1	-	c.2205C>G	c.(2203-2205)CTC>CTG	p.L735L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	735	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.163043	63.934389	83.785369	30	154	KEEP	---	---	---	---	capture		Silent	SNP	163256901	163256901	8342	2	G	C	C	C	574	45	KCNH7	3	3
COBLL1	22837	broad.mit.edu	37	2	165584537	165584537	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165584537C>G	uc010zcw.1	-	c.762G>C	c.(760-762)TTG>TTC	p.L254F	COBLL1_uc002ucp.2_Missense_Mutation_p.L201F|COBLL1_uc002ucq.2_Missense_Mutation_p.L201F|COBLL1_uc010zcx.1_Missense_Mutation_p.L247F|COBLL1_uc002ucs.1_Non-coding_Transcript	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	239										ovary(2)|pancreas(1)	3														0.04918	-12.454956	13.879331	6	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165584537	165584537	3792	2	C	G	G	G	376	29	COBLL1	3	3
TTC21B	79809	broad.mit.edu	37	2	166781139	166781139	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166781139G>C	uc002udk.2	-	c.1436C>G	c.(1435-1437)TCA>TGA	p.S479*		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	479						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5														0.054054	-5.658784	9.852801	4	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	166781139	166781139	17242	2	G	C	C	C	585	45	TTC21B	5	3
SCN7A	6332	broad.mit.edu	37	2	167273453	167273453	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167273453T>A	uc002udu.1	-	c.3178A>T	c.(3178-3180)AAT>TAT	p.N1060Y	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1060	Helical; Name=S5 of repeat III; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.136364	8.028161	13.655982	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167273453	167273453	14405	2	T	A	A	A	806	62	SCN7A	3	3
XIRP2	129446	broad.mit.edu	37	2	168106326	168106326	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106326C>A	uc002udx.2	+	c.8424C>A	c.(8422-8424)AGC>AGA	p.S2808R	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2633R|XIRP2_uc010fpq.2_Missense_Mutation_p.S2586R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.S154R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2633					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.123288	25.729115	45.928754	18	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106326	168106326	18011	2	C	A	A	A	350	27	XIRP2	1	1
LRP2	4036	broad.mit.edu	37	2	170097603	170097603	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170097603T>A	uc002ues.2	-	c.3940A>T	c.(3940-3942)AGT>TGT	p.S1314C	LRP2_uc010zdf.1_Missense_Mutation_p.S1177C	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1314	LDL-receptor class A 15.|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				0.314103	129.097193	133.907511	49	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170097603	170097603	9329	2	T	A	A	A	689	53	LRP2	3	3
MYO3B	140469	broad.mit.edu	37	2	171259484	171259484	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171259484G>C	uc002ufy.2	+	c.2256G>C	c.(2254-2256)CAG>CAC	p.Q752H	MYO3B_uc002ufv.2_Missense_Mutation_p.Q739H|MYO3B_uc010fqb.1_Missense_Mutation_p.Q739H|MYO3B_uc002ufz.2_Missense_Mutation_p.Q752H|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	752	Myosin head-like.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.378205	186.3878	188.41828	59	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171259484	171259484	10472	2	G	C	C	C	438	34	MYO3B	3	3
OLA1	29789	broad.mit.edu	37	2	174988383	174988383	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:174988383T>A	uc002uih.2	-	c.570A>T	c.(568-570)AAA>AAT	p.K190N	OLA1_uc002uii.2_Missense_Mutation_p.K32N|OLA1_uc010fqq.2_Missense_Mutation_p.K190N|OLA1_uc002uij.2_Missense_Mutation_p.K32N|OLA1_uc002uik.2_Missense_Mutation_p.K160N|OLA1_uc010fqr.2_Missense_Mutation_p.K190N	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	190					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2														0.15625	26.861196	37.692117	15	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174988383	174988383	11255	2	T	A	A	A	673	52	OLA1	3	3
HOXD3	3232	broad.mit.edu	37	2	177036402	177036402	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:177036402C>T	uc002ukt.1	+	c.699C>T	c.(697-699)CTC>CTT	p.L233L		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	233	Homeobox.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|regulation of transcription, DNA-dependent|thyroid gland development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)										0.103896	4.940337	16.970865	8	69	KEEP	---	---	---	---	capture		Silent	SNP	177036402	177036402	7615	2	C	T	T	T	366	29	HOXD3	2	2
MTX2	10651	broad.mit.edu	37	2	177202373	177202373	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:177202373G>T	uc002ukx.2	+	c.773G>T	c.(772-774)GGT>GTT	p.G258V	MTX2_uc002ukw.2_Missense_Mutation_p.G248V	NM_006554	NP_006545	O75431	MTX2_HUMAN	metaxin 2	258					protein targeting to mitochondrion	mitochondrial outer membrane				ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)											0.34728	239.9877	244.891801	83	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177202373	177202373	10361	2	G	T	T	T	572	44	MTX2	2	2
NFE2L2	4780	broad.mit.edu	37	2	178098966	178098966	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:178098966C>G	uc002ulh.3	-	c.79G>C	c.(79-81)GAT>CAT	p.D27H	NFE2L2_uc002ulg.3_Missense_Mutation_p.D11H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D11H|NFE2L2_uc002uli.3_Missense_Mutation_p.D11H|NFE2L2_uc010fra.2_Missense_Mutation_p.D11H|NFE2L2_uc010frb.2_Missense_Mutation_p.D11H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	27					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)											0.159091	14.896525	19.768298	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178098966	178098966	10768	2	C	G	G	G	416	32	NFE2L2	3	3
TTN	7273	broad.mit.edu	37	2	179400235	179400235	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179400235G>T	uc010zfg.1	-	c.93403C>A	c.(93403-93405)CGA>AGA	p.R31135R	TTN_uc010zfh.1_Silent_p.R24830R|TTN_uc010zfi.1_Silent_p.R24763R|TTN_uc010zfj.1_Silent_p.R24638R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2820										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				0.287671	58.565319	61.504786	21	52	KEEP	---	---	---	---	capture		Silent	SNP	179400235	179400235	17290	2	G	T	T	T	519	40	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179403426	179403426	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179403426C>T	uc010zfg.1	-	c.91426G>A	c.(91426-91428)GCC>ACC	p.A30476T	TTN_uc010zfh.1_Missense_Mutation_p.A24171T|TTN_uc010zfi.1_Missense_Mutation_p.A24104T|TTN_uc010zfj.1_Missense_Mutation_p.A23979T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	890										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				0.045872	-30.204725	17.770413	10	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179403426	179403426	17290	2	C	T	T	T	325	25	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179434136	179434136	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179434136C>T	uc010zfg.1	-	c.69019G>A	c.(69019-69021)GAT>AAT	p.D23007N	TTN_uc010zfh.1_Missense_Mutation_p.D16702N|TTN_uc010zfi.1_Missense_Mutation_p.D16635N|TTN_uc010zfj.1_Missense_Mutation_p.D16510N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2773										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				0.044776	-19.070103	10.637507	6	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179434136	179434136	17290	2	C	T	T	T	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179434868	179434868	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179434868C>G	uc010zfg.1	-	c.68287G>C	c.(68287-68289)GAT>CAT	p.D22763H	TTN_uc010zfh.1_Missense_Mutation_p.D16458H|TTN_uc010zfi.1_Missense_Mutation_p.D16391H|TTN_uc010zfj.1_Missense_Mutation_p.D16266H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2512										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				0.055556	-8.345509	14.109029	6	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179434868	179434868	17290	2	C	G	G	G	377	29	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179437530	179437530	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179437530G>A	uc010zfg.1	-	c.65625C>T	c.(65623-65625)TGC>TGT	p.C21875C	TTN_uc010zfh.1_Silent_p.C15570C|TTN_uc010zfi.1_Silent_p.C15503C|TTN_uc010zfj.1_Silent_p.C15378C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3253										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				0.15748	32.116637	46.335053	20	107	KEEP	---	---	---	---	capture		Silent	SNP	179437530	179437530	17290	2	G	A	A	A	438	34	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179438786	179438786	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179438786C>A	uc010zfg.1	-	c.64369G>T	c.(64369-64371)GAG>TAG	p.E21457*	TTN_uc010zfh.1_Nonsense_Mutation_p.E15152*|TTN_uc010zfi.1_Nonsense_Mutation_p.E15085*|TTN_uc010zfj.1_Nonsense_Mutation_p.E14960*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1287										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				0.130435	14.931069	27.161762	12	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179438786	179438786	17290	2	C	A	A	A	377	29	TTN	5	2
TTN	7273	broad.mit.edu	37	2	179450012	179450012	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179450012C>T	uc010zfg.1	-	c.56755G>A	c.(56755-56757)GAA>AAA	p.E18919K	TTN_uc010zfh.1_Missense_Mutation_p.E12614K|TTN_uc010zfi.1_Missense_Mutation_p.E12547K|TTN_uc010zfj.1_Missense_Mutation_p.E12422K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1861										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				0.049451	-22.678175	16.550879	9	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179450012	179450012	17290	2	C	T	T	T	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179465875	179465875	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179465875G>A	uc010zfg.1	-	c.48052C>T	c.(48052-48054)CTC>TTC	p.L16018F	TTN_uc010zfh.1_Missense_Mutation_p.L9713F|TTN_uc010zfi.1_Missense_Mutation_p.L9646F|TTN_uc010zfj.1_Missense_Mutation_p.L9521F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5093										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				0.064516	-8.995112	15.449036	8	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179465875	179465875	17290	2	G	A	A	A	468	36	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179576050	179576050	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179576050G>C	uc010zfg.1	-	c.24181C>G	c.(24181-24183)CGA>GGA	p.R8061G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4722G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3062										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				0.243902	57.662364	62.560522	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179576050	179576050	17290	2	G	C	C	C	480	37	TTN	3	3
SSFA2	6744	broad.mit.edu	37	2	182763764	182763764	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182763764G>A	uc002uoi.2	+	c.428G>A	c.(427-429)AGA>AAA	p.R143K	SSFA2_uc002uoh.2_Missense_Mutation_p.R143K|SSFA2_uc002uoj.2_Missense_Mutation_p.R143K|SSFA2_uc002uok.2_Non-coding_Transcript|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	143						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)											0.05814	-5.999688	11.604191	5	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182763764	182763764	15699	2	G	A	A	A	429	33	SSFA2	2	2
SSFA2	6744	broad.mit.edu	37	2	182786826	182786826	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182786826C>T	uc002uoi.2	+	c.3362C>T	c.(3361-3363)TCT>TTT	p.S1121F	SSFA2_uc002uoh.2_Missense_Mutation_p.S1121F|SSFA2_uc002uoj.2_Missense_Mutation_p.S1099F|SSFA2_uc002uok.2_Non-coding_Transcript|SSFA2_uc010zfo.1_Missense_Mutation_p.S946F|SSFA2_uc002uol.2_Missense_Mutation_p.S968F|SSFA2_uc002uom.2_Missense_Mutation_p.S585F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1121						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)											0.030837	-40.969521	13.782588	7	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182786826	182786826	15699	2	C	T	T	T	416	32	SSFA2	2	2
ANKAR	150709	broad.mit.edu	37	2	190541598	190541598	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190541598C>T	uc002uqw.1	+	c.169C>T	c.(169-171)CAG>TAG	p.Q57*	ANKAR_uc002uqu.2_Intron|ANKAR_uc002uqv.1_Nonsense_Mutation_p.Q128*	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	128						integral to membrane	binding			ovary(2)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)											0.097087	6.068339	22.82415	10	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	190541598	190541598	626	2	C	T	T	T	377	29	ANKAR	5	2
GLS	2744	broad.mit.edu	37	2	191827653	191827653	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191827653G>A	uc002usf.2	+	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	GLS_uc002ush.2_Missense_Mutation_p.D312N|GLS_uc010zgi.1_3'UTR|GLS_uc010zgj.1_Missense_Mutation_p.D156N	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	651					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.298387	101.622184	106.130339	37	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191827653	191827653	6731	2	G	A	A	A	429	33	GLS	2	2
MARS2	92935	broad.mit.edu	37	2	198571382	198571382	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198571382C>G	uc002uuq.2	+	c.1253C>G	c.(1252-1254)TCT>TGT	p.S418C		NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	418					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)	2					L-Methionine(DB00134)									0.087912	4.12719	19.755963	8	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198571382	198571382	9700	2	C	G	G	G	416	32	MARS2	3	3
MATN3	4148	broad.mit.edu	37	2	20205840	20205840	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20205840C>T	uc002rdl.2	-	c.455G>A	c.(454-456)CGA>CAA	p.R152Q	MATN3_uc010exu.1_Missense_Mutation_p.R152Q	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	152	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.089552	1.254065	12.606995	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20205840	20205840	9719	2	C	T	T	T	403	31	MATN3	1	1
CASP8	841	broad.mit.edu	37	2	202149735	202149735	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202149735C>G	uc002uxt.1	+	c.1176C>G	c.(1174-1176)ATC>ATG	p.I392M	CASP8_uc002uxp.1_Missense_Mutation_p.I350M|CASP8_uc002uxq.1_Missense_Mutation_p.I318M|CASP8_uc002uxr.1_Missense_Mutation_p.I333M|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxw.1_Missense_Mutation_p.I318M|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.I249M	NM_001080125	NP_001073594	Q14790	CASP8_HUMAN	caspase 8 isoform G precursor	333					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(1)|skin(1)	2						Melanoma(82;831 1348 20716 36952 40159)				239				0.085937	4.523007	26.766194	11	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202149735	202149735	2796	2	C	G	G	G	408	32	CASP8	3	3
CYP20A1	57404	broad.mit.edu	37	2	204157021	204157021	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204157021G>C	uc010zif.1	+	c.1144G>C	c.(1144-1146)GAT>CAT	p.D382H	CYP20A1_uc002uzv.3_Missense_Mutation_p.D374H|CYP20A1_uc002uzx.3_Missense_Mutation_p.D272H|CYP20A1_uc002uzy.3_Missense_Mutation_p.D272H|CYP20A1_uc002uzw.3_Non-coding_Transcript|CYP20A1_uc010ftw.2_Missense_Mutation_p.D104H	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	374					oxidation-reduction process	integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0														0.215686	57.593388	65.201857	22	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204157021	204157021	4317	2	G	C	C	C	533	41	CYP20A1	3	3
CRYGD	1421	broad.mit.edu	37	2	208986484	208986484	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208986484C>A	uc002vcn.3	-	c.438G>T	c.(436-438)CTG>CTT	p.L146L		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	146	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)										0.117647	4.476356	9.36223	4	30	KEEP	---	---	---	---	capture		Silent	SNP	208986484	208986484	4056	2	C	A	A	A	366	29	CRYGD	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209218816	209218816	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209218816C>T	uc002vcz.2	+	c.6039C>T	c.(6037-6039)CTC>CTT	p.L2013L		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	2013	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				0.0625	-4.992195	10.967241	5	75	KEEP	---	---	---	---	capture		Silent	SNP	209218816	209218816	12348	2	C	T	T	T	366	29	PIKFYVE	2	2
APOB	338	broad.mit.edu	37	2	21225455	21225455	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21225455G>A	uc002red.2	-	c.12839C>T	c.(12838-12840)GCC>GTC	p.A4280V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4280					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)									0.089109	1.114934	18.326303	9	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21225455	21225455	796	2	G	A	A	A	546	42	APOB	2	2
APOB	338	broad.mit.edu	37	2	21232021	21232021	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232021C>A	uc002red.2	-	c.7719G>T	c.(7717-7719)TGG>TGT	p.W2573C		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2573					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)									0.050279	-20.507581	17.816536	9	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21232021	21232021	796	2	C	A	A	A	286	22	APOB	2	2
APOB	338	broad.mit.edu	37	2	21232396	21232396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232396C>A	uc002red.2	-	c.7344G>T	c.(7342-7344)CAG>CAT	p.Q2448H		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2448					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)									0.226804	99.011635	112.307756	44	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21232396	21232396	796	2	C	A	A	A	415	32	APOB	2	2
APOB	338	broad.mit.edu	37	2	21255357	21255357	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21255357C>T	uc002red.2	-	c.1221G>A	c.(1219-1221)CTG>CTA	p.L407L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	407	Vitellogenin.				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)									0.088889	2.810196	25.851776	12	123	KEEP	---	---	---	---	capture		Silent	SNP	21255357	21255357	796	2	C	T	T	T	366	29	APOB	2	2
MFF	56947	broad.mit.edu	37	2	228197153	228197153	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228197153C>T	uc002vos.2	+	c.278C>T	c.(277-279)TCA>TTA	p.S93L	MFF_uc002vot.2_Missense_Mutation_p.S67L|MFF_uc002vou.2_Missense_Mutation_p.S93L|MFF_uc002vov.2_Missense_Mutation_p.S67L|MFF_uc002vow.2_Missense_Mutation_p.S67L|MFF_uc002vox.2_Missense_Mutation_p.S67L|MFF_uc002voy.2_Missense_Mutation_p.S93L|MFF_uc002voz.2_Missense_Mutation_p.S67L	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	93	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1														0.065574	-10.009836	13.939365	8	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228197153	228197153	9909	2	C	T	T	T	377	29	MFF	2	2
AGFG1	3267	broad.mit.edu	37	2	228384753	228384753	+	Silent	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228384753A>G	uc002vpd.2	+	c.351A>G	c.(349-351)CTA>CTG	p.L117L	AGFG1_uc002vpc.2_Silent_p.L117L|AGFG1_uc002vpe.2_Silent_p.L117L|AGFG1_uc002vpf.2_Silent_p.L117L	NM_001135187	NP_001128659	P52594	AGFG1_HUMAN	HIV-1 Rev binding protein isoform 1	117	Arf-GAP.				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4														0.166667	13.228403	17.019772	6	30	KEEP	---	---	---	---	capture		Silent	SNP	228384753	228384753	383	2	A	G	G	G	171	14	AGFG1	4	4
SPHKAP	80309	broad.mit.edu	37	2	228882499	228882499	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882499T>A	uc002vpq.2	-	c.3071A>T	c.(3070-3072)GAG>GTG	p.E1024V	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1024V|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1024V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1024						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.153846	13.666292	19.624338	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228882499	228882499	15560	2	T	A	A	A	702	54	SPHKAP	3	3
DIS3L2	129563	broad.mit.edu	37	2	232952411	232952411	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232952411C>T	uc010fxz.2	+	c.581C>T	c.(580-582)TCA>TTA	p.S194L	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vsn.1_Missense_Mutation_p.S194L|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	194							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)										0.115385	4.908467	12.492149	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232952411	232952411	4716	2	C	T	T	T	377	29	DIS3L2	2	2
DIS3L2	129563	broad.mit.edu	37	2	233001238	233001238	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233001238C>G	uc010fxz.2	+	c.759C>G	c.(757-759)CTC>CTG	p.L253L	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	253							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)										0.082988	6.946773	49.52178	20	221	KEEP	---	---	---	---	capture		Silent	SNP	233001238	233001238	4716	2	C	G	G	G	405	32	DIS3L2	3	3
ANKMY1	51281	broad.mit.edu	37	2	241494377	241494377	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241494377C>A	uc010fzd.1	-	c.242G>T	c.(241-243)GGT>GTT	p.G81V	ANKMY1_uc002vyz.1_5'UTR|ANKMY1_uc002vza.1_Missense_Mutation_p.G81V|ANKMY1_uc002vzb.1_Missense_Mutation_p.G81V|ANKMY1_uc002vzc.1_Missense_Mutation_p.G81V|ANKMY1_uc002vzd.1_Missense_Mutation_p.G81V|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_5'UTR|ANKMY1_uc002vzf.2_5'UTR	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	Error:Variant_position_missing_in_Q9P2S6_after_alignment							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)										0.3	40.504695	42.292121	15	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241494377	241494377	637	2	C	A	A	A	234	18	ANKMY1	2	2
PASK	23178	broad.mit.edu	37	2	242066327	242066327	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242066327T>A	uc010fzl.1	-	c.2003A>T	c.(2002-2004)CAG>CTG	p.Q668L	PASK_uc010zol.1_Missense_Mutation_p.Q482L|PASK_uc002wao.1_Missense_Mutation_p.Q668L|PASK_uc010zom.1_Missense_Mutation_p.Q633L|PASK_uc010zon.1_Missense_Mutation_p.Q449L|PASK_uc002wap.2_Missense_Mutation_p.Q211L|PASK_uc002waq.2_Missense_Mutation_p.Q668L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	668					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.5	230.999412	230.999412	75	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242066327	242066327	11889	2	T	A	A	A	715	55	PASK	3	3
ADCY3	109	broad.mit.edu	37	2	25061436	25061436	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25061436C>A	uc010ykm.1	-	c.1411G>T	c.(1411-1413)GAG>TAG	p.E471*	ADCY3_uc002rfr.3_Nonsense_Mutation_p.E104*|ADCY3_uc002rfs.3_Nonsense_Mutation_p.E471*	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	471	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)													0.0625	-5.048864	7.716953	4	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25061436	25061436	296	2	C	A	A	A	390	30	ADCY3	5	2
DNMT3A	1788	broad.mit.edu	37	2	25457219	25457219	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25457219C>A	uc002rgc.2	-	c.2668G>T	c.(2668-2670)GGC>TGC	p.G890C	DNMT3A_uc002rgd.2_Missense_Mutation_p.G890C|DNMT3A_uc010eyi.2_Non-coding_Transcript|DNMT3A_uc002rgb.2_Missense_Mutation_p.G701C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	890					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.207547	21.592648	25.79923	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25457219	25457219	4859	2	C	A	A	A	286	22	DNMT3A	2	2
DNMT3A	1788	broad.mit.edu	37	2	25470507	25470507	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25470507C>T	uc002rgc.2	-	c.967G>A	c.(967-969)GAA>AAA	p.E323K	DNMT3A_uc002rgd.2_Missense_Mutation_p.E323K|DNMT3A_uc010eyi.2_Non-coding_Transcript|DNMT3A_uc002rgb.2_Missense_Mutation_p.E134K	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	323	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.178571	15.307694	20.767892	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25470507	25470507	4859	2	C	T	T	T	377	29	DNMT3A	2	2
C2orf16	84226	broad.mit.edu	37	2	27802077	27802077	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27802077T>A	uc002rkz.3	+	c.2638T>A	c.(2638-2640)TGG>AGG	p.W880R		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	880										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.180556	25.943368	32.843563	13	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27802077	27802077	2243	2	T	A	A	A	715	55	C2orf16	3	3
PLB1	151056	broad.mit.edu	37	2	28763256	28763256	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28763256G>A	uc002rmb.1	+	c.722G>A	c.(721-723)TGC>TAC	p.C241Y	PLB1_uc010ezj.1_Missense_Mutation_p.C252Y	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	241	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.444444	24.001953	24.049494	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28763256	28763256	12450	2	G	A	A	A	598	46	PLB1	2	2
ALK	238	broad.mit.edu	37	2	29448340	29448340	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29448340G>T	uc002rmy.2	-	c.3159C>A	c.(3157-3159)TCC>TCA	p.S1053S	ALK_uc010ymo.1_5'Flank	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1053	Helical; (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.142857	4.716892	7.29402	3	18	KEEP	---	---	---	---	capture		Silent	SNP	29448340	29448340	528	2	G	T	T	T	496	39	ALK	1	1
NLRC4	58484	broad.mit.edu	37	2	32475389	32475389	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32475389T>A	uc002roi.2	-	c.1544A>T	c.(1543-1545)CAC>CTC	p.H515L	NLRC4_uc002roj.1_Missense_Mutation_p.H515L|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	515					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.235294	51.161862	56.605148	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32475389	32475389	10872	2	T	A	A	A	767	59	NLRC4	3	3
NLRC4	58484	broad.mit.edu	37	2	32476636	32476636	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32476636G>A	uc002roi.2	-	c.297C>T	c.(295-297)GAC>GAT	p.D99D	NLRC4_uc002roj.1_Silent_p.D99D|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	99					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)													0.061947	-8.349184	14.250333	7	106	KEEP	---	---	---	---	capture		Silent	SNP	32476636	32476636	10872	2	G	A	A	A	516	40	NLRC4	1	1
BIRC6	57448	broad.mit.edu	37	2	32613848	32613848	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32613848C>T	uc010ezu.2	+	c.676C>T	c.(676-678)CAT>TAT	p.H226Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	226					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.162162	11.12745	15.142367	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32613848	32613848	1463	2	C	T	T	T	377	29	BIRC6	2	2
BIRC6	57448	broad.mit.edu	37	2	32694488	32694488	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32694488G>T	uc010ezu.2	+	c.6153G>T	c.(6151-6153)CAG>CAT	p.Q2051H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2051					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.163934	16.507258	23.056369	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32694488	32694488	1463	2	G	T	T	T	425	33	BIRC6	2	2
EIF2AK2	5610	broad.mit.edu	37	2	37366778	37366778	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37366778G>A	uc010ynh.1	-	c.512C>T	c.(511-513)TCA>TTA	p.S171L	EIF2AK2_uc010fab.1_Missense_Mutation_p.S171L|EIF2AK2_uc010yng.1_Missense_Mutation_p.S171L|EIF2AK2_uc010fac.2_Missense_Mutation_p.S171L|EIF2AK2_uc010fad.2_Missense_Mutation_p.S171L	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	171					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)								368				0.097222	2.668714	14.37773	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37366778	37366778	5186	2	G	A	A	A	585	45	EIF2AK2	2	2
PRKD3	23683	broad.mit.edu	37	2	37487372	37487372	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37487372G>A	uc002rqd.2	-	c.2040C>T	c.(2038-2040)GTC>GTT	p.V680V	PRKD3_uc002rqe.1_Silent_p.V280V	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	680	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|protein phosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				Melanoma(80;621 1355 8613 11814 51767)				569				0.162791	12.197242	16.845637	7	36	KEEP	---	---	---	---	capture		Silent	SNP	37487372	37487372	12963	2	G	A	A	A	574	45	PRKD3	2	2
FAM82A1	151393	broad.mit.edu	37	2	38179277	38179277	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38179277G>C	uc002rqn.1	+	c.919G>C	c.(919-921)GAT>CAT	p.D307H	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.2_Intron|FAM82A1_uc002rqm.2_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	family with sequence similarity 82, member A1	Error:Variant_position_missing_in_Q96LZ7_after_alignment						cytoplasm|integral to membrane|microtubule|spindle pole	binding			ovary(1)	1														0.088235	8.690673	32.002153	12	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38179277	38179277	5856	2	G	C	C	C	429	33	FAM82A1	3	3
ATL2	64225	broad.mit.edu	37	2	38542463	38542463	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:38542463G>C	uc002rqq.2	-	c.617C>G	c.(616-618)TCT>TGT	p.S206C	ATL2_uc010ynm.1_Missense_Mutation_p.S188C|ATL2_uc010ynn.1_Missense_Mutation_p.S188C|ATL2_uc010yno.1_Missense_Mutation_p.S35C|ATL2_uc002rqs.2_Missense_Mutation_p.S206C|ATL2_uc002rqr.2_Missense_Mutation_p.S35C	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	206	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)	2														0.075	0.09136	7.50514	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38542463	38542463	1126	2	G	C	C	C	429	33	ATL2	3	3
SOS1	6654	broad.mit.edu	37	2	39249779	39249779	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:39249779C>G	uc002rrk.3	-	c.1790G>C	c.(1789-1791)GGA>GCA	p.G597A	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.3_Missense_Mutation_p.G211A|SOS1_uc002rrl.2_Missense_Mutation_p.G329A	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	597	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|lung(1)|central_nervous_system(1)	6		all_hematologic(82;0.21)								444				0.089286	3.930361	13.469405	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39249779	39249779	15436	2	C	G	G	G	390	30	SOS1	3	3
THADA	63892	broad.mit.edu	37	2	43520107	43520107	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:43520107C>T	uc002rsw.3	-	c.4684G>A	c.(4684-4686)GAA>AAA	p.E1562K	THADA_uc010far.2_Missense_Mutation_p.E757K|THADA_uc002rsx.3_Missense_Mutation_p.E1562K|THADA_uc002rsy.3_Non-coding_Transcript	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1562							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)												0.084746	0.240114	10.555594	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43520107	43520107	16368	2	C	T	T	T	390	30	THADA	2	2
MSH2	4436	broad.mit.edu	37	2	47690168	47690168	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:47690168A>T	uc002rvz.2	+	c.1387_splice	c.e9-2	p.V463_splice	MSH2_uc010yoh.1_Splice_Site_SNP_p.V397_splice|MSH2_uc002rvy.1_Splice_Site_SNP_p.V463_splice|MSH2_uc010fbg.2_Splice_Site_SNP_p.V273_splice|MSH2_uc010fbh.1_Splice_Site_SNP|MSH2_uc010fbi.1_Splice_Site_SNP	NM_000251	NP_000242			mutS homolog 2						B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.?(2)		large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							715				0.16	15.467047	20.973241	8	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47690168	47690168	10263	2	A	T	T	T	91	7	MSH2	5	3
MSH6	2956	broad.mit.edu	37	2	48027172	48027172	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48027172C>T	uc002rwd.3	+	c.2050C>T	c.(2050-2052)CTA>TTA	p.L684L	MSH6_uc002rwc.2_Silent_p.L684L|MSH6_uc010fbj.2_Silent_p.L382L|MSH6_uc010yoi.1_Silent_p.L554L|MSH6_uc010yoj.1_Silent_p.L382L	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	684					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|endometrium(28)|central_nervous_system(27)|stomach(21)|haematopoietic_and_lymphoid_tissue(9)|skin(6)|urinary_tract(5)|lung(5)|ovary(3)|breast(2)|thyroid(1)	160		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)							517				0.146214	93.631246	139.729761	56	327	KEEP	---	---	---	---	capture		Silent	SNP	48027172	48027172	10267	2	C	T	T	T	415	32	MSH6	2	2
FSHR	2492	broad.mit.edu	37	2	49217725	49217725	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49217725A>T	uc002rww.2	-	c.426T>A	c.(424-426)CAT>CAA	p.H142Q	FSHR_uc002rwx.2_Missense_Mutation_p.H142Q|FSHR_uc010fbn.2_Missense_Mutation_p.H142Q|FSHR_uc010fbo.1_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	142	Extracellular (Potential).|LRR 4.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.155172	46.206773	65.98212	27	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49217725	49217725	6324	2	A	T	T	T	50	4	FSHR	3	3
NRXN1	9378	broad.mit.edu	37	2	51254935	51254935	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51254935G>T	uc010fbq.2	-	c.477C>A	c.(475-477)CCC>CCA	p.P159P	NRXN1_uc002rxe.3_Silent_p.P159P|NRXN1_uc002rxd.1_Silent_p.P159P	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	212	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)											0.166667	5.281759	7.834325	4	20	KEEP	---	---	---	---	capture		Silent	SNP	51254935	51254935	11070	2	G	T	T	T	548	43	NRXN1	2	2
SPTBN1	6711	broad.mit.edu	37	2	54853248	54853248	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54853248C>T	uc002rxu.2	+	c.1521C>T	c.(1519-1521)ATC>ATT	p.I507I	SPTBN1_uc002rxv.1_Silent_p.I507I|SPTBN1_uc002rxx.2_Silent_p.I494I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	507	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.054054	-17.887424	20.889735	10	175	KEEP	---	---	---	---	capture		Silent	SNP	54853248	54853248	15633	2	C	T	T	T	382	30	SPTBN1	2	2
SPTBN1	6711	broad.mit.edu	37	2	54856193	54856193	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54856193G>A	uc002rxu.2	+	c.1922G>A	c.(1921-1923)TGG>TAG	p.W641*	SPTBN1_uc002rxv.1_Nonsense_Mutation_p.W641*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.W628*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	641	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.095238	-0.328741	10.184739	6	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54856193	54856193	15633	2	G	A	A	A	611	47	SPTBN1	5	2
CCDC88A	55704	broad.mit.edu	37	2	55527035	55527035	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55527035C>T	uc002ryv.2	-	c.4762G>A	c.(4762-4764)GAT>AAT	p.D1588N	CCDC88A_uc010yoz.1_Missense_Mutation_p.D1561N|CCDC88A_uc010ypa.1_Missense_Mutation_p.D1588N|CCDC88A_uc002ryt.2_5'Flank|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.D843N|CCDC88A_uc002rys.2_Missense_Mutation_p.D546N|CCDC88A_uc002ryw.2_Missense_Mutation_p.D872N|CCDC88A_uc010fby.1_Missense_Mutation_p.D440N	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1589					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)	2														0.051724	-12.651292	12.015873	6	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55527035	55527035	2988	2	C	T	T	T	377	29	CCDC88A	2	2
BCL11A	53335	broad.mit.edu	37	2	60689368	60689368	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60689368G>C	uc002sae.1	-	c.679C>G	c.(679-681)CTC>GTC	p.L227V	BCL11A_uc002sab.2_Missense_Mutation_p.L227V|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.L193V|BCL11A_uc002sad.1_Missense_Mutation_p.L75V|BCL11A_uc002saf.1_Missense_Mutation_p.L193V	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	227					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				0.35	22.118993	22.516035	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60689368	60689368	1384	2	G	C	C	C	429	33	BCL11A	3	3
USP34	9736	broad.mit.edu	37	2	61632995	61632995	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61632995G>C	uc002sbe.2	-	c.400C>G	c.(400-402)CTG>GTG	p.L134V		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	134					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.107527	13.081723	27.28846	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61632995	61632995	17629	2	G	C	C	C	425	33	USP34	3	3
CCT4	10575	broad.mit.edu	37	2	62096610	62096610	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:62096610C>T	uc002sbo.2	-	c.1570G>A	c.(1570-1572)GAA>AAA	p.E524K	CCT4_uc010ypp.1_Missense_Mutation_p.E468K|CCT4_uc010ypq.1_Missense_Mutation_p.E374K|CCT4_uc010ypr.1_Missense_Mutation_p.E468K|CCT4_uc010yps.1_Missense_Mutation_p.E494K	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	524					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)											0.066667	-6.130117	11.414003	6	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62096610	62096610	3082	2	C	T	T	T	377	29	CCT4	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69053210	69053210	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69053210A>T	uc010fdg.2	+	c.1825A>T	c.(1825-1827)ATC>TTC	p.I609F	ARHGAP25_uc002seu.2_Missense_Mutation_p.I608F|ARHGAP25_uc010yql.1_Missense_Mutation_p.I569F|ARHGAP25_uc002sew.2_Missense_Mutation_p.I601F|ARHGAP25_uc002sex.2_Missense_Mutation_p.I602F|ARHGAP25_uc002sey.2_Missense_Mutation_p.I335F	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	608	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.053333	-40.990705	37.975941	20	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69053210	69053210	886	2	A	T	T	T	156	12	ARHGAP25	3	3
ANTXR1	84168	broad.mit.edu	37	2	69409681	69409681	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69409681G>C	uc002sfg.2	+	c.1242G>C	c.(1240-1242)AAG>AAC	p.K414N		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	414	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)	2														0.080808	2.968417	56.160382	24	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69409681	69409681	719	2	G	C	C	C	425	33	ANTXR1	3	3
MPHOSPH10	10199	broad.mit.edu	37	2	71360143	71360143	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71360143G>C	uc002sht.1	+	c.205G>C	c.(205-207)GAA>CAA	p.E69Q	MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.E69Q	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	69					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			ovary(1)	1														0.125	7.081707	11.473738	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71360143	71360143	10117	2	G	C	C	C	429	33	MPHOSPH10	3	3
DYSF	8291	broad.mit.edu	37	2	71791294	71791294	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71791294C>T	uc010fen.2	+	c.2516C>T	c.(2515-2517)GCC>GTC	p.A839V	DYSF_uc010feg.2_Missense_Mutation_p.A852V|DYSF_uc010feh.2_Missense_Mutation_p.A807V|DYSF_uc002sig.3_Missense_Mutation_p.A807V|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Missense_Mutation_p.A821V|DYSF_uc010fef.2_Missense_Mutation_p.A838V|DYSF_uc002sie.2_Missense_Mutation_p.A821V|DYSF_uc010fei.2_Missense_Mutation_p.A838V|DYSF_uc010fek.2_Missense_Mutation_p.A839V|DYSF_uc010fej.2_Missense_Mutation_p.A808V|DYSF_uc010fel.2_Missense_Mutation_p.A808V|DYSF_uc010feo.2_Missense_Mutation_p.A853V|DYSF_uc010fem.2_Missense_Mutation_p.A822V|DYSF_uc002sif.2_Missense_Mutation_p.A822V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	821	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.065217	-6.190278	11.749378	6	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71791294	71791294	5045	2	C	T	T	T	338	26	DYSF	2	2
SMYD5	10322	broad.mit.edu	37	2	73450603	73450603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73450603C>T	uc002siw.2	+	c.826C>T	c.(826-828)CAG>TAG	p.Q276*	SMYD5_uc010yre.1_Nonsense_Mutation_p.Q160*|SMYD5_uc002six.1_Non-coding_Transcript	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	276	SET.						metal ion binding				0														0.050725	-15.796415	13.725388	7	131	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73450603	73450603	15325	2	C	T	T	T	377	29	SMYD5	5	2
ALMS1	7840	broad.mit.edu	37	2	73717355	73717355	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73717355G>T	uc002sje.1	+	c.8272G>T	c.(8272-8274)GAA>TAA	p.E2758*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.E2714*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.E2144*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.E2144*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2756					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.042553	-21.257522	10.40341	6	135	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73717355	73717355	538	2	G	T	T	T	429	33	ALMS1	5	2
C2orf78	388960	broad.mit.edu	37	2	74043093	74043093	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74043093C>A	uc002sjr.1	+	c.1743C>A	c.(1741-1743)TCC>TCA	p.S581S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	581	Lys-rich.									ovary(2)	2														0.235294	68.034974	75.666369	28	91	KEEP	---	---	---	---	capture		Silent	SNP	74043093	74043093	2285	2	C	A	A	A	262	21	C2orf78	2	2
SLC4A5	57835	broad.mit.edu	37	2	74474317	74474317	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74474317G>T	uc002sko.1	-	c.1905C>A	c.(1903-1905)TTC>TTA	p.F635L	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.2_Missense_Mutation_p.F635L|SLC4A5_uc010ffc.1_Missense_Mutation_p.F635L|SLC4A5_uc002skp.1_Missense_Mutation_p.F571L|SLC4A5_uc002sks.1_Missense_Mutation_p.F635L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	635	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.096774	7.21588	32.468308	15	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74474317	74474317	15154	2	G	T	T	T	581	45	SLC4A5	2	2
TTC31	64427	broad.mit.edu	37	2	74719278	74719278	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74719278G>T	uc002slt.2	+	c.941G>T	c.(940-942)AGC>ATC	p.S314I	TTC31_uc002sls.2_3'UTR|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.S168I	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	314	TPR 1.						binding				0														0.147826	28.315063	41.997332	17	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74719278	74719278	17255	2	G	T	T	T	442	34	TTC31	2	2
DQX1	165545	broad.mit.edu	37	2	74752171	74752171	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74752171G>C	uc010yrw.1	-	c.396C>G	c.(394-396)CCC>CCG	p.P132P	DQX1_uc002smc.2_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	132	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2														0.080537	-2.544732	24.132645	12	137	KEEP	---	---	---	---	capture		Silent	SNP	74752171	74752171	4935	2	G	C	C	C	548	43	DQX1	3	3
CTNNA2	1496	broad.mit.edu	37	2	80085181	80085181	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80085181C>A	uc010ysh.1	+	c.341C>A	c.(340-342)CCT>CAT	p.P114H	CTNNA2_uc010yse.1_Missense_Mutation_p.P114H|CTNNA2_uc010ysf.1_Missense_Mutation_p.P114H|CTNNA2_uc010ysg.1_Missense_Mutation_p.P114H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	114					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.25641	50.261622	54.459669	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80085181	80085181	4172	2	C	A	A	A	312	24	CTNNA2	2	2
C2orf51	200523	broad.mit.edu	37	2	88825151	88825151	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88825151A>T	uc002stb.1	+	c.-9_splice	c.e2-2			NM_152670	NP_689883			chromosome 2 open reading frame 51							nucleus					0														0.252747	119.875528	129.970106	46	136	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	88825151	88825151	2261	2	A	T	T	T	195	15	C2orf51	5	3
GPAT2	150763	broad.mit.edu	37	2	96690296	96690296	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96690296C>T	uc002svf.2	-	c.1548G>A	c.(1546-1548)GTG>GTA	p.V516V	GPAT2_uc002svd.2_Silent_p.V335V|GPAT2_uc002sve.2_Silent_p.V318V|GPAT2_uc002svg.2_Silent_p.V395V|GPAT2_uc010yuh.1_Silent_p.V445V|GPAT2_uc002svh.2_Silent_p.V516V	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	516					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0														0.259259	37.131838	39.961909	14	40	KEEP	---	---	---	---	capture		Silent	SNP	96690296	96690296	6863	2	C	T	T	T	262	21	GPAT2	2	2
NCAPH	23397	broad.mit.edu	37	2	97031743	97031743	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97031743G>C	uc002svz.1	+	c.1828G>C	c.(1828-1830)GGA>CGA	p.G610R	NCAPH_uc010fhv.1_Missense_Mutation_p.G599R|NCAPH_uc010yum.1_Missense_Mutation_p.G586R|NCAPH_uc010fhw.1_Missense_Mutation_p.G599R|NCAPH_uc010yun.1_Missense_Mutation_p.G474R|NCAPH_uc002swa.1_Missense_Mutation_p.G205R	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	610					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)	1		Ovarian(717;0.0221)												0.089888	-1.256747	13.853514	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97031743	97031743	10608	2	G	C	C	C	455	35	NCAPH	3	3
TMEM131	23505	broad.mit.edu	37	2	98373611	98373611	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98373611C>T	uc002syh.3	-	c.5603G>A	c.(5602-5604)AGA>AAA	p.R1868K	TMEM131_uc002syg.2_Missense_Mutation_p.R248K	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1868						integral to membrane				ovary(4)|central_nervous_system(2)	6														0.071429	-0.893323	7.040861	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98373611	98373611	16575	2	C	T	T	T	416	32	TMEM131	2	2
VWA3B	200403	broad.mit.edu	37	2	98750290	98750290	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98750290C>A	uc002syo.2	+	c.876C>A	c.(874-876)TTC>TTA	p.F292L	VWA3B_uc010yvh.1_Missense_Mutation_p.F142L|VWA3B_uc002syj.2_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.F292L|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	292										ovary(3)|large_intestine(2)	5														0.133803	72.377627	127.860867	57	369	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98750290	98750290	17810	2	C	A	A	A	389	30	VWA3B	2	2
CNGA3	1261	broad.mit.edu	37	2	99013258	99013258	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99013258G>T	uc002syt.2	+	c.1625G>T	c.(1624-1626)AGC>ATC	p.S542I	CNGA3_uc002syu.2_Missense_Mutation_p.S524I|CNGA3_uc010fij.2_Missense_Mutation_p.S546I	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	542	cGMP.				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.306122	75.215889	78.50004	30	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99013258	99013258	3736	2	G	T	T	T	442	34	CNGA3	2	2
LYG1	129530	broad.mit.edu	37	2	99907838	99907838	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99907838G>A	uc002szy.2	-	c.195C>T	c.(193-195)CTC>CTT	p.L65L	MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Silent_p.L65L	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	65					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0														0.063291	-6.293974	9.404285	5	74	KEEP	---	---	---	---	capture		Silent	SNP	99907838	99907838	9481	2	G	A	A	A	522	41	LYG1	2	2
GPR128	84873	broad.mit.edu	37	3	100362407	100362407	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100362407A>G	uc003duc.2	+	c.876A>G	c.(874-876)ATA>ATG	p.I292M	GPR128_uc011bhc.1_Intron	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	292	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.056818	-6.495362	11.653271	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100362407	100362407	6915	3	A	G	G	G	176	14	GPR128	4	4
TFG	10342	broad.mit.edu	37	3	100463679	100463679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100463679C>T	uc003due.2	+	c.724C>T	c.(724-726)CAG>TAG	p.Q242*	TFG_uc003duf.2_Nonsense_Mutation_p.Q242*|TFG_uc003dug.2_Nonsense_Mutation_p.Q238*|TFG_uc003duh.2_Nonsense_Mutation_p.Q238*|TFG_uc003dui.2_Nonsense_Mutation_p.Q242*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	242					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|large_intestine(1)	8										149				0.06087	-10.257064	12.904095	7	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100463679	100463679	16334	3	C	T	T	T	377	29	TFG	5	2
ZPLD1	131368	broad.mit.edu	37	3	102189268	102189268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102189268G>T	uc003dvt.1	+	c.1012G>T	c.(1012-1014)GGG>TGG	p.G338W	ZPLD1_uc003dvs.1_Missense_Mutation_p.G322W|ZPLD1_uc011bhg.1_Missense_Mutation_p.G322W	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	322	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.423077	166.90026	167.572008	55	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102189268	102189268	18825	3	G	T	T	T	611	47	ZPLD1	2	2
ZPLD1	131368	broad.mit.edu	37	3	102196379	102196379	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102196379C>A	uc003dvt.1	+	c.1213C>A	c.(1213-1215)CTT>ATT	p.L405I	ZPLD1_uc003dvs.1_Missense_Mutation_p.L389I|ZPLD1_uc011bhg.1_Missense_Mutation_p.L389I	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	389	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.052342	-41.19351	35.727921	19	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102196379	102196379	18825	3	C	A	A	A	416	32	ZPLD1	2	2
CCDC54	84692	broad.mit.edu	37	3	107096565	107096565	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107096565G>A	uc003dwi.1	+	c.131G>A	c.(130-132)GGA>GAA	p.G44E		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	44											0														0.095618	14.519303	55.69221	24	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107096565	107096565	2947	3	G	A	A	A	533	41	CCDC54	2	2
MYH15	22989	broad.mit.edu	37	3	108183535	108183535	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108183535C>G	uc003dxa.1	-	c.1741G>C	c.(1741-1743)GAT>CAT	p.D581H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	581	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.146006	105.426239	149.161236	53	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108183535	108183535	10429	3	C	G	G	G	377	29	MYH15	3	3
C3orf17	25871	broad.mit.edu	37	3	112727076	112727076	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112727076G>C	uc003dzr.2	-	c.1177C>G	c.(1177-1179)CTG>GTG	p.L393V	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.L18V|C3orf17_uc011bhz.1_Missense_Mutation_p.L18V|C3orf17_uc010hqh.2_Missense_Mutation_p.L18V|C3orf17_uc003dzt.2_Missense_Mutation_p.L296V|C3orf17_uc003dzs.2_Missense_Mutation_p.L257V|C3orf17_uc010hqg.2_Missense_Mutation_p.L218V|C3orf17_uc011bia.1_Missense_Mutation_p.L190V|C3orf17_uc003dzu.2_Missense_Mutation_p.L322V|C3orf17_uc011bib.1_Missense_Mutation_p.L282V|C3orf17_uc011bic.1_Missense_Mutation_p.L226V|C3orf17_uc011bid.1_Non-coding_Transcript	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	393						integral to membrane					0														0.061069	-11.024202	15.405905	8	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112727076	112727076	2303	3	G	C	C	C	425	33	C3orf17	3	3
CD80	941	broad.mit.edu	37	3	119263473	119263473	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119263473G>T	uc003ecq.2	-	c.342C>A	c.(340-342)TAC>TAA	p.Y114*	CD80_uc010hqt.1_Nonsense_Mutation_p.Y114*|CD80_uc010hqu.1_Nonsense_Mutation_p.Y114*|CD80_uc003ecr.1_Nonsense_Mutation_p.Y114*	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	114	Extracellular (Potential).|Ig-like V-type.				cell-cell signaling|interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell activation|T cell costimulation	integral to membrane	coreceptor activity|protein binding|transcription activator activity			ovary(1)	1					Abatacept(DB01281)	Melanoma(132;135 1764 1806 5833 14593)								0.118012	22.710689	45.824589	19	142	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	119263473	119263473	3166	3	G	T	T	T	516	40	CD80	5	1
GSK3B	2932	broad.mit.edu	37	3	119595286	119595286	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119595286G>C	uc003edn.2	-	c.883C>G	c.(883-885)CAA>GAA	p.Q295E	GSK3B_uc003edo.2_Missense_Mutation_p.Q295E	NM_002093	NP_002084	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 1	295	Protein kinase.				axon guidance|canonical Wnt receptor signaling pathway|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein catabolic process|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cytosol|nucleus	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)					159				0.158273	45.438568	60.953149	22	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119595286	119595286	7104	3	G	C	C	C	585	45	GSK3B	3	3
GTF2E1	2960	broad.mit.edu	37	3	120469615	120469615	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120469615C>G	uc003edz.3	+	c.216C>G	c.(214-216)ATC>ATG	p.I72M	GTF2E1_uc003edy.2_Missense_Mutation_p.I72M	NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	72	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)										0.129187	45.604332	73.568153	27	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120469615	120469615	7136	3	C	G	G	G	369	29	GTF2E1	3	3
STXBP5L	9515	broad.mit.edu	37	3	120764330	120764330	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120764330C>A	uc003eec.3	+	c.418C>A	c.(418-420)CTT>ATT	p.L140I	STXBP5L_uc011bji.1_Missense_Mutation_p.L140I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	140	WD 2.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.245902	74.5885	81.762205	30	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120764330	120764330	15877	3	C	A	A	A	312	24	STXBP5L	2	2
POLQ	10721	broad.mit.edu	37	3	121263644	121263644	+	Missense_Mutation	SNP	C	G	G	rs61757738		TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121263644C>G	uc003eee.3	-	c.273G>C	c.(271-273)AAG>AAC	p.K91N		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	91					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.069767	-0.511484	7.707078	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121263644	121263644	12636	3	C	G	G	G	415	32	POLQ	3	3
ARGFX	503582	broad.mit.edu	37	3	121303853	121303853	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121303853G>A	uc003eef.2	+	c.310G>A	c.(310-312)GAT>AAT	p.D104N		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	104	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.152)										0.045908	-67.442341	43.121995	23	478	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121303853	121303853	870	3	G	A	A	A	429	33	ARGFX	2	2
ARGFX	503582	broad.mit.edu	37	3	121305236	121305236	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121305236C>G	uc003eef.2	+	c.737C>G	c.(736-738)TCT>TGT	p.S246C		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	246					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.152)										0.073034	-1.956296	31.403565	13	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121305236	121305236	870	3	C	G	G	G	416	32	ARGFX	3	3
CASR	846	broad.mit.edu	37	3	121994736	121994736	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121994736G>A	uc003eew.3	+	c.1455G>A	c.(1453-1455)CTG>CTA	p.L485L	CASR_uc003eev.3_Silent_p.L485L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	485	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.046809	-34.488466	17.161004	11	224	KEEP	---	---	---	---	capture		Silent	SNP	121994736	121994736	2801	3	G	A	A	A	600	47	CASR	2	2
ADCY5	111	broad.mit.edu	37	3	123022044	123022044	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123022044A>T	uc003egh.1	-	c.2582T>A	c.(2581-2583)CTG>CAG	p.L861Q	ADCY5_uc003egg.1_Missense_Mutation_p.L494Q|ADCY5_uc003egi.1_Missense_Mutation_p.L420Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	861	Extracellular (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.321429	24.764684	25.55798	9	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123022044	123022044	298	3	A	T	T	T	91	7	ADCY5	3	3
ADCY5	111	broad.mit.edu	37	3	123051504	123051504	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123051504G>A	uc003egh.1	-	c.1425C>T	c.(1423-1425)ATC>ATT	p.I475I	ADCY5_uc003egg.1_Silent_p.I108I|ADCY5_uc003egi.1_Silent_p.I34I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1.|Cytoplasmic (Potential).	Magnesium 2; via carbonyl oxygen (By similarity).			activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.28	18.614719	19.702395	7	18	KEEP	---	---	---	---	capture		Silent	SNP	123051504	123051504	298	3	G	A	A	A	473	37	ADCY5	1	1
HEG1	57493	broad.mit.edu	37	3	124731846	124731846	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124731846G>A	uc011bke.1	-	c.2877C>T	c.(2875-2877)ACC>ACT	p.T959T	HEG1_uc003ehs.3_Silent_p.T859T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	859	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2														0.186441	72.200318	88.48264	33	144	KEEP	---	---	---	---	capture		Silent	SNP	124731846	124731846	7327	3	G	A	A	A	548	43	HEG1	2	2
SNX4	8723	broad.mit.edu	37	3	125188347	125188347	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125188347C>T	uc003eib.2	-	c.805G>A	c.(805-807)GAA>AAA	p.E269K	SNX4_uc011bkf.1_Missense_Mutation_p.E124K	NM_003794	NP_003785	O95219	SNX4_HUMAN	sorting nexin 4	269					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4														0.06	-6.73152	13.510663	6	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125188347	125188347	15404	3	C	T	T	T	416	32	SNX4	2	2
ROPN1B	152015	broad.mit.edu	37	3	125701153	125701153	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125701153C>T	uc003eih.2	+	c.437C>T	c.(436-438)TCA>TTA	p.S146L	ROPN1B_uc010hsb.2_Missense_Mutation_p.S146L|ROPN1B_uc010hsc.2_Missense_Mutation_p.S54L	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	146					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)										0.081633	0.220254	17.689843	8	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125701153	125701153	14003	3	C	T	T	T	377	29	ROPN1B	2	2
TMCC1	23023	broad.mit.edu	37	3	129389319	129389319	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129389319C>G	uc003emz.3	-	c.1365G>C	c.(1363-1365)CAG>CAC	p.Q455H	TMCC1_uc003emy.3_Missense_Mutation_p.Q131H|TMCC1_uc011blc.1_Missense_Mutation_p.Q276H|TMCC1_uc010htg.2_Missense_Mutation_p.Q341H	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	455						integral to membrane					0														0.092308	9.396572	31.149414	12	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129389319	129389319	16522	3	C	G	G	G	415	32	TMCC1	3	3
TOPBP1	11073	broad.mit.edu	37	3	133342989	133342989	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133342989G>A	uc003eps.2	-	c.2835C>T	c.(2833-2835)TTC>TTT	p.F945F	TOPBP1_uc003ept.1_5'UTR	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	945	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						Ovarian(21;193 658 4424 15423 17362)				428				0.138298	37.814394	61.607065	26	162	KEEP	---	---	---	---	capture		Silent	SNP	133342989	133342989	16911	3	G	A	A	A	581	45	TOPBP1	2	2
RYK	6259	broad.mit.edu	37	3	133913963	133913963	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133913963C>G	uc003eqc.1	-	c.844G>C	c.(844-846)GAG>CAG	p.E282Q	RYK_uc003eqd.1_Missense_Mutation_p.E282Q	NM_001005861	NP_001005861	P34925	RYK_HUMAN	RYK receptor-like tyrosine kinase isoform 1	Error:Variant_position_missing_in_P34925_after_alignment					corpus callosum development|positive regulation of MAPKKK cascade|protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(1)	4										579				0.048077	-10.91459	11.680359	5	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133913963	133913963	14247	3	C	G	G	G	366	29	RYK	3	3
EPHB1	2047	broad.mit.edu	37	3	134851763	134851763	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134851763G>T	uc003eqt.2	+	c.1169G>T	c.(1168-1170)CGC>CTC	p.R390L	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	390	Extracellular (Potential).|Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R390L(1)		lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18									p.R390L(NCIH1666-Tumor)	376				0.340426	91.199448	93.301571	32	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134851763	134851763	5367	3	G	T	T	T	494	38	EPHB1	1	1
HDAC11	79885	broad.mit.edu	37	3	13543374	13543374	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13543374C>T	uc003bxy.2	+	c.493C>T	c.(493-495)CTG>TTG	p.L165L	HDAC11_uc010heb.2_Silent_p.F122F|HDAC11_uc011aux.1_5'UTR|HDAC11_uc003bxz.2_Silent_p.L137L|HDAC11_uc011auy.1_Silent_p.L114L	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	165	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2														0.5	28.774927	28.774927	9	9	KEEP	---	---	---	---	capture		Silent	SNP	13543374	13543374	7289	3	C	T	T	T	415	32	HDAC11	2	2
RBP2	5948	broad.mit.edu	37	3	139173649	139173649	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:139173649A>T	uc003eth.2	-	c.276T>A	c.(274-276)GAT>GAA	p.D92E		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	92					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)									0.032864	-36.436814	14.277958	7	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139173649	139173649	13625	3	A	T	T	T	102	8	RBP2	3	3
RBP1	5947	broad.mit.edu	37	3	139237323	139237323	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:139237323C>T	uc003eti.2	-	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q		NM_002899	NP_002890	P09455	RET1_HUMAN	retinol binding protein 1, cellular isoform a	98						cytoplasm	retinal binding|retinol binding|transporter activity				0					Vitamin A(DB00162)									0.064516	-3.351532	8.870601	4	58	KEEP	---	---	---	---	capture		Silent	SNP	139237323	139237323	13624	3	C	T	T	T	415	32	RBP1	2	2
CLSTN2	64084	broad.mit.edu	37	3	140122473	140122473	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140122473G>A	uc003etn.2	+	c.235G>A	c.(235-237)GAA>AAA	p.E79K	CLSTN2_uc003etm.2_Missense_Mutation_p.E79K	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	79	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.042328	-56.768474	28.390299	16	362	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140122473	140122473	3700	3	G	A	A	A	533	41	CLSTN2	2	2
XRN1	54464	broad.mit.edu	37	3	142094782	142094782	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142094782G>A	uc003eus.2	-	c.2836C>T	c.(2836-2838)CAT>TAT	p.H946Y	XRN1_uc010huu.2_Missense_Mutation_p.H412Y|XRN1_uc003eut.2_Missense_Mutation_p.H946Y|XRN1_uc003euu.2_Missense_Mutation_p.H946Y	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	946					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3														0.071429	-3.7551	14.795642	7	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142094782	142094782	18042	3	G	A	A	A	585	45	XRN1	2	2
PLOD2	5352	broad.mit.edu	37	3	145804659	145804659	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145804659C>G	uc003evr.1	-	c.1042G>C	c.(1042-1044)GAT>CAT	p.D348H	PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.D293H|PLOD2_uc003evs.1_Missense_Mutation_p.D348H	NM_182943	NP_891988	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	348					oxidation-reduction process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)	1					Vitamin C(DB00126)									0.142857	6.111461	8.691661	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145804659	145804659	12528	3	C	G	G	G	377	29	PLOD2	3	3
FGD5	152273	broad.mit.edu	37	3	14862090	14862090	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14862090G>A	uc003bzc.2	+	c.1512G>A	c.(1510-1512)GAG>GAA	p.E504E	FGD5_uc011avk.1_Silent_p.E504E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	504					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.555556	46.827965	46.901018	15	12	KEEP	---	---	---	---	capture		Silent	SNP	14862090	14862090	6073	3	G	A	A	A	451	35	FGD5	2	2
WWTR1	25937	broad.mit.edu	37	3	149245727	149245727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:149245727C>A	uc003exe.2	-	c.801G>T	c.(799-801)ATG>ATT	p.M267I	WWTR1_uc003exf.2_Missense_Mutation_p.M267I|WWTR1_uc011bns.1_Missense_Mutation_p.M267I|WWTR1_uc003exh.2_Missense_Mutation_p.M267I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	267					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(3)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)											0.431472	251.842005	252.648903	85	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149245727	149245727	17991	3	C	A	A	A	273	21	WWTR1	2	2
IGSF10	285313	broad.mit.edu	37	3	151171376	151171376	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151171376C>T	uc011bod.1	-	c.511G>A	c.(511-513)GAT>AAT	p.D171N		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	171	LRR 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.051502	-25.397702	24.213103	12	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151171376	151171376	7898	3	C	T	T	T	416	32	IGSF10	2	2
SGEF	26084	broad.mit.edu	37	3	153847397	153847397	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153847397G>C	uc011bog.1	+	c.1158G>C	c.(1156-1158)AAG>AAC	p.K386N	SGEF_uc011boh.1_Missense_Mutation_p.K386N	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	386					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.421053	45.792954	45.999646	16	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153847397	153847397	14696	3	G	C	C	C	451	35	SGEF	3	3
TIPARP	25976	broad.mit.edu	37	3	156413761	156413761	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156413761G>C	uc003fav.2	+	c.1194G>C	c.(1192-1194)GAG>GAC	p.E398D	TIPARP_uc003faw.2_Missense_Mutation_p.E398D	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	398	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			Ovarian(171;276 1987 3319 6837 11197)								0.094118	6.354607	20.406361	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156413761	156413761	16453	3	G	C	C	C	425	33	TIPARP	3	3
LEKR1	389170	broad.mit.edu	37	3	156710979	156710979	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156710979G>A	uc003fba.1	+	c.110G>A	c.(109-111)AGA>AAA	p.R37K		NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	50											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)											0.059459	-14.739762	22.869243	11	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156710979	156710979	9041	3	G	A	A	A	429	33	LEKR1	2	2
SMC4	10051	broad.mit.edu	37	3	160129835	160129835	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160129835G>A	uc003fdh.2	+	c.815G>A	c.(814-816)CGG>CAG	p.R272Q	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.R272Q|SMC4_uc010hwc.1_Missense_Mutation_p.R36Q|SMC4_uc003fdi.2_Missense_Mutation_p.R247Q|SMC4_uc003fdj.2_Missense_Mutation_p.R272Q|SMC4_uc010hwd.2_Missense_Mutation_p.R272Q|SMC4_uc003fdl.2_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	272	Potential.			R -> Q (in Ref. 6; AAC72361).	cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.094595	3.0683	15.28869	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160129835	160129835	15283	3	G	A	A	A	507	39	SMC4	1	1
SI	6476	broad.mit.edu	37	3	164766995	164766995	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164766995G>T	uc003fei.2	-	c.1635C>A	c.(1633-1635)TGC>TGA	p.C545*		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	545	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.414634	51.067126	51.328147	17	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	164766995	164766995	14792	3	G	T	T	T	594	46	SI	5	2
WDR49	151790	broad.mit.edu	37	3	167245669	167245669	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167245669G>A	uc003fev.1	-	c.1487C>T	c.(1486-1488)TCT>TTT	p.S496F	WDR49_uc003feu.1_Missense_Mutation_p.S321F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	496	WD 8.									large_intestine(1)|ovary(1)	2														0.096154	6.368516	23.380016	10	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167245669	167245669	17875	3	G	A	A	A	429	33	WDR49	2	2
SAMD7	344658	broad.mit.edu	37	3	169644379	169644379	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:169644379G>T	uc003fgd.2	+	c.329G>T	c.(328-330)AGA>ATA	p.R110I	SAMD7_uc003fge.2_Missense_Mutation_p.R110I|SAMD7_uc011bpo.1_Missense_Mutation_p.R11I	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	110										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)											0.266667	48.761892	52.45376	20	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169644379	169644379	14304	3	G	T	T	T	429	33	SAMD7	2	2
ECT2	1894	broad.mit.edu	37	3	172533425	172533425	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172533425C>T	uc003fil.1	+	c.2432C>T	c.(2431-2433)TCC>TTC	p.S811F	ECT2_uc010hwv.1_Missense_Mutation_p.S811F|ECT2_uc003fih.2_Missense_Mutation_p.S779F|ECT2_uc003fii.2_Missense_Mutation_p.S780F|ECT2_uc003fij.1_Missense_Mutation_p.S780F|ECT2_uc003fik.1_Missense_Mutation_p.S780F|ECT2_uc003fim.1_Missense_Mutation_p.S79F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	780					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(1)|breast(1)|skin(1)	3	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)											0.1	4.040088	12.02928	5	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172533425	172533425	5088	3	C	T	T	T	390	30	ECT2	2	2
YEATS2	55689	broad.mit.edu	37	3	183493712	183493712	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183493712C>T	uc003fly.2	+	c.2378C>T	c.(2377-2379)TCT>TTT	p.S793F	YEATS2_uc003flz.2_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.179487	11.888129	15.679359	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183493712	183493712	18055	3	C	T	T	T	416	32	YEATS2	2	2
YEATS2	55689	broad.mit.edu	37	3	183508600	183508600	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183508600C>T	uc003fly.2	+	c.2929C>T	c.(2929-2931)CCC>TCC	p.P977S	YEATS2_uc003flz.2_Missense_Mutation_p.P56S	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	977					histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.059701	-5.451895	8.133857	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183508600	183508600	18055	3	C	T	T	T	390	30	YEATS2	2	2
ECE2	9718	broad.mit.edu	37	3	184002808	184002808	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184002808G>A	uc003fni.3	+	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K	ECE2_uc011brh.1_Missense_Mutation_p.E326K|ECE2_uc003fnl.3_Missense_Mutation_p.E401K|ECE2_uc003fnm.3_Missense_Mutation_p.E355K|ECE2_uc003fnk.3_Missense_Mutation_p.E326K|ECE2_uc011bri.1_Missense_Mutation_p.E388K|ECE2_uc010hxv.2_Missense_Mutation_p.E117K	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	473	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)	2	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)									OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.151899	20.15015	29.315681	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184002808	184002808	5077	3	G	A	A	A	533	41	ECE2	2	2
EPHB3	2049	broad.mit.edu	37	3	184295457	184295457	+	Silent	SNP	C	T	T	rs56102565		TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184295457C>T	uc003foz.2	+	c.1491C>T	c.(1489-1491)ATC>ATT	p.I497I		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	497	Fibronectin type-III 2.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(2)|breast(2)|ovary(1)|skin(1)	6	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)							292				0.137931	5.68054	9.357676	4	25	KEEP	---	---	---	---	capture		Silent	SNP	184295457	184295457	5369	3	C	T	T	T	395	31	EPHB3	1	1
EIF4A2	1974	broad.mit.edu	37	3	186505046	186505046	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186505046C>T	uc003fqu.2	+	c.905C>T	c.(904-906)TCT>TTT	p.S302F	EIF4A2_uc003fqs.2_Missense_Mutation_p.S301F|EIF4A2_uc003fqt.2_Non-coding_Transcript|EIF4A2_uc003fqv.2_Missense_Mutation_p.S206F|EIF4A2_uc003fqw.2_Missense_Mutation_p.S206F|EIF4A2_uc011bsb.1_Missense_Mutation_p.S174F|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	301	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)						538				0.058824	-8.772784	15.48429	7	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186505046	186505046	5216	3	C	T	T	T	416	32	EIF4A2	2	2
BCL6	604	broad.mit.edu	37	3	187446181	187446181	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187446181C>T	uc003frp.3	-	c.1507G>A	c.(1507-1509)GAG>AAG	p.E503K	BCL6_uc011bsf.1_Missense_Mutation_p.E503K|BCL6_uc010hza.2_Missense_Mutation_p.E401K|BCL6_uc003frq.1_Missense_Mutation_p.E503K	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	503					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				0.266667	9.693008	10.431023	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187446181	187446181	1397	3	C	T	T	T	416	32	BCL6	2	2
TP63	8626	broad.mit.edu	37	3	189526215	189526215	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:189526215C>G	uc003fry.2	+	c.479C>G	c.(478-480)TCT>TGT	p.S160C	TP63_uc003frx.2_Missense_Mutation_p.S160C|TP63_uc003frz.2_Missense_Mutation_p.S160C|TP63_uc010hzc.1_Missense_Mutation_p.S160C|TP63_uc003fsa.2_Missense_Mutation_p.S66C|TP63_uc003fsb.2_Missense_Mutation_p.S66C|TP63_uc003fsc.2_Missense_Mutation_p.S66C|TP63_uc003fsd.2_Missense_Mutation_p.S66C|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S41C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	160					anti-apoptosis|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|promoter binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			lung(4)|ovary(2)|skin(2)	8	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)						423				0.130435	8.400431	14.560693	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189526215	189526215	16936	3	C	G	G	G	416	32	TP63	3	3
ATP13A3	79572	broad.mit.edu	37	3	194181540	194181540	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194181540C>G	uc003fty.3	-	c.72G>C	c.(70-72)TTG>TTC	p.L24F		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	24					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)										0.057143	-4.738674	9.653401	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194181540	194181540	1144	3	C	G	G	G	376	29	ATP13A3	3	3
C3orf21	152002	broad.mit.edu	37	3	194947467	194947467	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194947467G>A	uc003fum.3	-	c.623C>T	c.(622-624)TCG>TTG	p.S208L	C3orf21_uc011bsw.1_Missense_Mutation_p.S62L	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	208						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)										0.216981	51.888176	59.704769	23	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194947467	194947467	2307	3	G	A	A	A	481	37	C3orf21	1	1
PIGX	54965	broad.mit.edu	37	3	196454981	196454981	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:196454981C>A	uc010iaj.2	+	c.383C>A	c.(382-384)CCA>CAA	p.P128Q	PIGX_uc003fwx.3_Missense_Mutation_p.P128Q|PIGX_uc011btx.1_Non-coding_Transcript	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	169	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)										0.231884	39.265334	43.807861	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196454981	196454981	12327	3	C	A	A	A	273	21	PIGX	2	2
OSBPL10	114884	broad.mit.edu	37	3	31725491	31725491	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:31725491C>G	uc003cev.2	-	c.1361G>C	c.(1360-1362)AGA>ACA	p.R454T	OSBPL10_uc003ceu.1_Missense_Mutation_p.R211T|OSBPL10_uc011axf.1_Missense_Mutation_p.R390T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	454					lipid transport		lipid binding				0				STAD - Stomach adenocarcinoma(1;0.00406)										0.049505	-10.294751	11.446962	5	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31725491	31725491	11686	3	C	G	G	G	416	32	OSBPL10	3	3
CLASP2	23122	broad.mit.edu	37	3	33648210	33648210	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33648210C>T	uc003cfu.2	-	c.1567G>A	c.(1567-1569)GAA>AAA	p.E523K	CLASP2_uc003cft.2_Non-coding_Transcript|CLASP2_uc010hgb.2_Non-coding_Transcript|CLASP2_uc003cfv.2_Missense_Mutation_p.E296K|CLASP2_uc011axu.1_Missense_Mutation_p.E300K|CLASP2_uc003cfw.2_Missense_Mutation_p.E296K|CLASP2_uc011axt.1_Missense_Mutation_p.E98K	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	290					axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.16092	49.985249	69.029287	28	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33648210	33648210	3591	3	C	T	T	T	377	29	CLASP2	2	2
PDCD6IP	10015	broad.mit.edu	37	3	33863496	33863496	+	Silent	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33863496A>G	uc003cfy.2	+	c.384A>G	c.(382-384)GCA>GCG	p.A128A	PDCD6IP_uc011axv.1_Silent_p.A128A|PDCD6IP_uc003cfx.2_Silent_p.A128A	NM_001162429	NP_001155901	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	128	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2														0.238095	20.829478	23.461739	10	32	KEEP	---	---	---	---	capture		Silent	SNP	33863496	33863496	12045	3	A	G	G	G	80	7	PDCD6IP	4	4
SCN5A	6331	broad.mit.edu	37	3	38622506	38622506	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38622506G>A	uc003cio.2	-	c.3144C>T	c.(3142-3144)CCC>CCT	p.P1048P	SCN5A_uc003cin.2_Silent_p.P1048P|SCN5A_uc003cil.3_Silent_p.P1048P|SCN5A_uc010hhi.2_Silent_p.P1048P|SCN5A_uc010hhk.2_Silent_p.P1048P|SCN5A_uc011ayr.1_Silent_p.P1048P|SCN5A_uc010hhj.1_Silent_p.P659P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1048					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.59375	61.029494	61.275413	19	13	KEEP	---	---	---	---	capture		Silent	SNP	38622506	38622506	14404	3	G	A	A	A	600	47	SCN5A	2	2
SCN10A	6336	broad.mit.edu	37	3	38770320	38770320	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38770320C>T	uc003ciq.2	-	c.2353G>A	c.(2353-2355)GGG>AGG	p.G785R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	785	II.				sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.077586	-2.053574	19.064835	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38770320	38770320	14394	3	C	T	T	T	286	22	SCN10A	2	2
LRRN1	57633	broad.mit.edu	37	3	3887010	3887010	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3887010G>A	uc003bpt.3	+	c.685G>A	c.(685-687)GAT>AAT	p.D229N	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	229	LRR 7.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)										0.15748	35.01828	49.231357	20	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3887010	3887010	9410	3	G	A	A	A	585	45	LRRN1	2	2
CDCP1	64866	broad.mit.edu	37	3	45153867	45153867	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45153867G>A	uc003com.2	-	c.363C>T	c.(361-363)CTC>CTT	p.L121L	CDCP1_uc003con.2_Silent_p.L121L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	121	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)										0.06746	-14.733857	34.101766	17	235	KEEP	---	---	---	---	capture		Silent	SNP	45153867	45153867	3222	3	G	A	A	A	574	45	CDCP1	2	2
DHX30	22907	broad.mit.edu	37	3	47883200	47883200	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47883200G>C	uc003cru.2	+	c.762G>C	c.(760-762)CAG>CAC	p.Q254H	DHX30_uc003crs.2_Missense_Mutation_p.Q215H|DHX30_uc003crt.2_Missense_Mutation_p.Q215H|DHX30_uc010hjr.1_Missense_Mutation_p.Q282H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	254						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)										0.078431	0.73581	19.244607	8	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47883200	47883200	4683	3	G	C	C	C	425	33	DHX30	3	3
PARP3	10039	broad.mit.edu	37	3	51978223	51978223	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51978223G>T	uc003dbz.2	+	c.323G>T	c.(322-324)TGG>TTG	p.W108L	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dby.2_Missense_Mutation_p.W101L	NM_001003931	NP_001003931	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	101					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.202899	30.412609	36.068296	14	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51978223	51978223	11879	3	G	T	T	T	611	47	PARP3	2	2
LRTM1	57408	broad.mit.edu	37	3	54952844	54952844	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54952844T>G	uc003dhl.2	-	c.680A>C	c.(679-681)GAG>GCG	p.E227A	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	227	Extracellular (Potential).|LRRCT.					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)										0.461538	36.296722	36.330254	12	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54952844	54952844	9420	3	T	G	G	G	702	54	LRTM1	4	4
ADAMTS9	56999	broad.mit.edu	37	3	64524897	64524897	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64524897G>A	uc003dmg.2	-	c.5595C>T	c.(5593-5595)AGC>AGT	p.S1865S	ADAMTS9_uc011bfo.1_Silent_p.S1837S|ADAMTS9_uc011bfp.1_Silent_p.S776S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1865	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.184211	13.739571	17.266938	7	31	KEEP	---	---	---	---	capture		Silent	SNP	64524897	64524897	274	3	G	A	A	A	490	38	ADAMTS9	1	1
FRMD4B	23150	broad.mit.edu	37	3	69242992	69242992	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69242992A>T	uc003dnv.2	-	c.1521T>A	c.(1519-1521)TTT>TTA	p.F507L	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.F159L|FRMD4B_uc011bga.1_Missense_Mutation_p.F351L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	507						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)										0.130435	4.072991	7.075154	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69242992	69242992	6302	3	A	T	T	T	115	9	FRMD4B	3	3
CADM2	253559	broad.mit.edu	37	3	86010712	86010712	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:86010712G>A	uc003dql.2	+	c.864G>A	c.(862-864)CTG>CTA	p.L288L	CADM2_uc003dqj.2_Silent_p.L286L|CADM2_uc003dqk.2_Silent_p.L295L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	286	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)	3		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)										0.147541	12.668345	19.929913	9	52	KEEP	---	---	---	---	capture		Silent	SNP	86010712	86010712	2683	3	G	A	A	A	574	45	CADM2	2	2
EPHA3	2042	broad.mit.edu	37	3	89480446	89480446	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89480446G>T	uc003dqy.2	+	c.2283G>T	c.(2281-2283)AAG>AAT	p.K761N	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	761	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding	p.K761N(1)		lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.444444	34.704469	34.775392	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89480446	89480446	5361	3	G	T	T	T	451	35	EPHA3	2	2
BRPF1	7862	broad.mit.edu	37	3	9785913	9785913	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9785913G>T	uc003bsf.2	+	c.2641G>T	c.(2641-2643)GGT>TGT	p.G881C	BRPF1_uc003bse.2_Missense_Mutation_p.G875C|BRPF1_uc003bsg.2_Missense_Mutation_p.G874C|BRPF1_uc011ati.1_Intron	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	875	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.051887	-24.234128	20.796204	11	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9785913	9785913	1551	3	G	T	T	T	559	43	BRPF1	2	2
BRPF1	7862	broad.mit.edu	37	3	9785987	9785987	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9785987G>A	uc003bsf.2	+	c.2715G>A	c.(2713-2715)CCG>CCA	p.P905P	BRPF1_uc003bse.2_Silent_p.P899P|BRPF1_uc003bsg.2_Silent_p.P898P|BRPF1_uc011ati.1_Intron	NM_001003694	NP_001003694	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	899	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|transcription activator activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)													0.107527	7.68964	21.896148	10	83	KEEP	---	---	---	---	capture		Silent	SNP	9785987	9785987	1551	3	G	A	A	A	470	37	BRPF1	1	1
EGF	1950	broad.mit.edu	37	4	110920853	110920855	+	Missense	Complex_substitution	CNG	TNT	TNT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110920853C>T	uc003hzy.3	+	c.3024C>T	c.(3022-3024)ATC>ATT	p.I1008I	EGF_uc011cfu.1_Silent_p.I966I|EGF_uc011cfv.1_Silent_p.I967I|EGF_uc010imk.2_Silent_p.I156I	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	1008	EGF-like 9.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			central_nervous_system(1)	1		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)					724				0.40404	115.483325	116.27877	40	59	KEEP	---	---	---	---	capture		Missense	Complex_substitution	110920853	110920855	5151	4	CNG	TNT	TNT	T	395	31	EGF	5	5
ALPK1	80216	broad.mit.edu	37	4	113352085	113352085	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113352085A>T	uc003iap.3	+	c.1382A>T	c.(1381-1383)CAG>CTG	p.Q461L	ALPK1_uc003ian.3_Missense_Mutation_p.Q461L|ALPK1_uc011cfx.1_Missense_Mutation_p.Q383L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.Q289L	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	461					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.146667	18.277707	27.275085	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113352085	113352085	547	4	A	T	T	T	91	7	ALPK1	3	3
ALPK1	80216	broad.mit.edu	37	4	113360962	113360962	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113360962G>T	uc003iap.3	+	c.3472G>T	c.(3472-3474)GGC>TGC	p.G1158C	ALPK1_uc003ian.3_Missense_Mutation_p.G1158C|ALPK1_uc011cfx.1_Missense_Mutation_p.G1080C|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc010imo.2_Missense_Mutation_p.G986C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1158	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.25	17.315676	18.903743	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113360962	113360962	547	4	G	T	T	T	611	47	ALPK1	2	2
CCNA2	890	broad.mit.edu	37	4	122741833	122741833	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122741833C>T	uc003iec.3	-	c.658G>A	c.(658-660)GAA>AAA	p.E220K		NM_001237	NP_001228	P20248	CCNA2_HUMAN	cyclin A	220					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction	cytoplasm|nucleoplasm	protein binding			ovary(1)	1										93				0.136364	11.938382	20.390485	9	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122741833	122741833	3037	4	C	T	T	T	377	29	CCNA2	2	2
KIAA1109	84162	broad.mit.edu	37	4	123192444	123192444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123192444C>T	uc003ieh.2	+	c.7765C>T	c.(7765-7767)CAG>TAG	p.Q2589*	KIAA1109_uc003iel.1_Nonsense_Mutation_p.Q524*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.Q1208*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2589					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.117647	9.638537	24.298855	12	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123192444	123192444	8516	4	C	T	T	T	377	29	KIAA1109	5	2
IL2	3558	broad.mit.edu	37	4	123374908	123374908	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123374908C>A	uc003ier.2	-	c.308G>T	c.(307-309)AGG>ATG	p.R103M		NM_000586	NP_000577	P60568	IL2_HUMAN	interleukin 2 precursor	103					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of inflammatory response|positive regulation of interleukin-17 production|positive regulation of tissue remodeling|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity				0				LUSC - Lung squamous cell carcinoma(721;0.185)						34				0.275362	50.193103	53.329735	19	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123374908	123374908	7967	4	C	A	A	A	312	24	IL2	2	2
C4orf33	132321	broad.mit.edu	37	4	130030648	130030648	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:130030648C>G	uc003igu.3	+	c.315C>G	c.(313-315)TTC>TTG	p.F105L	C4orf33_uc010ioc.1_Missense_Mutation_p.F105L|C4orf33_uc010iod.2_Missense_Mutation_p.F105L	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	105											0														0.063492	-3.442765	9.043557	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130030648	130030648	2358	4	C	G	G	G	376	29	C4orf33	3	3
PCDH10	57575	broad.mit.edu	37	4	134073414	134073414	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134073414G>T	uc003iha.2	+	c.2119G>T	c.(2119-2121)GGC>TGC	p.G707C	PCDH10_uc003igz.2_Missense_Mutation_p.G707C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	707	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.527778	59.027824	59.052305	19	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073414	134073414	11927	4	G	T	T	T	507	39	PCDH10	1	1
TMEM184C	55751	broad.mit.edu	37	4	148555046	148555046	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:148555046C>T	uc003ila.3	+	c.1010C>T	c.(1009-1011)TCA>TTA	p.S337L		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	337						integral to membrane					0														0.064516	-9.384909	21.178188	10	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148555046	148555046	16640	4	C	T	T	T	377	29	TMEM184C	2	2
LRBA	987	broad.mit.edu	37	4	151829938	151829938	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151829938C>T	uc010ipj.2	-	c.1233G>A	c.(1231-1233)GGG>GGA	p.G411G	LRBA_uc003ilu.3_Silent_p.G411G|LRBA_uc010ipk.1_Silent_p.G330G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	411						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.064	-7.970222	16.717809	8	117	KEEP	---	---	---	---	capture		Silent	SNP	151829938	151829938	9304	4	C	T	T	T	379	30	LRBA	2	2
DCHS2	54798	broad.mit.edu	37	4	155250833	155250833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155250833G>T	uc003inw.2	-	c.2395C>A	c.(2395-2397)CGT>AGT	p.R799S	DCHS2_uc003inx.2_Missense_Mutation_p.R1254S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	799	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.269231	19.216308	20.46398	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155250833	155250833	4459	4	G	T	T	T	481	37	DCHS2	1	1
GRIA2	2891	broad.mit.edu	37	4	158257004	158257004	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158257004G>T	uc003ipm.3	+	c.1448G>T	c.(1447-1449)GGG>GTG	p.G483V	GRIA2_uc011cit.1_Missense_Mutation_p.G436V|GRIA2_uc003ipl.3_Missense_Mutation_p.G483V|GRIA2_uc003ipk.3_Missense_Mutation_p.G436V|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	483	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.136364	4.910358	7.726693	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158257004	158257004	7046	4	G	T	T	T	559	43	GRIA2	2	2
GRIA2	2891	broad.mit.edu	37	4	158284002	158284002	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158284002C>A	uc003ipm.3	+	c.2458C>A	c.(2458-2460)CTT>ATT	p.L820I	GRIA2_uc011cit.1_Missense_Mutation_p.L773I|GRIA2_uc003ipl.3_Missense_Mutation_p.L820I|GRIA2_uc003ipk.3_Missense_Mutation_p.L773I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	820	Helical; (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.102941	5.333901	15.962715	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158284002	158284002	7046	4	C	A	A	A	312	24	GRIA2	2	2
DDX60	55601	broad.mit.edu	37	4	169158901	169158901	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169158901T>A	uc003irp.2	-	c.4210A>T	c.(4210-4212)AGA>TGA	p.R1404*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1404							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)										0.196721	28.265108	33.491889	12	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169158901	169158901	4549	4	T	A	A	A	713	55	DDX60	5	3
GPM6A	2823	broad.mit.edu	37	4	176561960	176561960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:176561960C>A	uc003iuf.2	-	c.562G>T	c.(562-564)GAA>TAA	p.E188*	GPM6A_uc011ckj.1_Nonsense_Mutation_p.E181*|GPM6A_uc003iug.2_Nonsense_Mutation_p.E188*|GPM6A_uc003iuh.2_Nonsense_Mutation_p.E177*	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	188	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)										0.173913	6.985298	9.294699	4	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	176561960	176561960	6889	4	C	A	A	A	390	30	GPM6A	5	2
NEIL3	55247	broad.mit.edu	37	4	178274590	178274590	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:178274590C>G	uc003iut.2	+	c.1168C>G	c.(1168-1170)CTT>GTT	p.L390V	NEIL3_uc010irs.2_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	390					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)										0.1	6.01132	15.594674	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178274590	178274590	10719	4	C	G	G	G	416	32	NEIL3	3	3
F11	2160	broad.mit.edu	37	4	187197021	187197021	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187197021C>T	uc003iza.1	+	c.566C>T	c.(565-567)TCA>TTA	p.S189L		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	189	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)									0.243902	23.227597	25.679794	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187197021	187197021	5531	4	C	T	T	T	377	29	F11	2	2
TRIML1	339976	broad.mit.edu	37	4	189068317	189068317	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189068317G>T	uc003izm.1	+	c.1198G>T	c.(1198-1200)GTC>TTC	p.V400F	TRIML1_uc003izn.1_Missense_Mutation_p.V124F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	400	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|breast(1)|pancreas(1)	3		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		Melanoma(31;213 1036 16579 23968 32372)								0.419355	41.683365	41.855611	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189068317	189068317	17100	4	G	T	T	T	520	40	TRIML1	1	1
TUBB4Q	56604	broad.mit.edu	37	4	190903695	190903695	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190903695C>G	uc011clg.1	-	c.1285G>C	c.(1285-1287)GAG>CAG	p.E429Q		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	430					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)										0.142857	13.095894	19.114711	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190903695	190903695	17314	4	C	G	G	G	403	31	TUBB4Q	3	3
ARAP2	116984	broad.mit.edu	37	4	36152616	36152616	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36152616C>T	uc003gsq.1	-	c.2803G>A	c.(2803-2805)GAA>AAA	p.E935K		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	935	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.166667	8.754294	11.917166	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36152616	36152616	850	4	C	T	T	T	377	29	ARAP2	2	2
GABRB1	2560	broad.mit.edu	37	4	47405466	47405466	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47405466A>T	uc003gxh.2	+	c.676A>T	c.(676-678)ACA>TCA	p.T226S	GABRB1_uc011bze.1_Missense_Mutation_p.T156S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	226	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.454545	46.022275	46.081469	15	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47405466	47405466	6417	4	A	T	T	T	78	6	GABRB1	3	3
GABRB1	2560	broad.mit.edu	37	4	47408703	47408703	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47408703C>A	uc003gxh.2	+	c.840C>A	c.(838-840)ATC>ATA	p.I280I	GABRB1_uc011bze.1_Silent_p.I210I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	280	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.191176	26.236494	32.297494	13	55	KEEP	---	---	---	---	capture		Silent	SNP	47408703	47408703	6417	4	C	A	A	A	369	29	GABRB1	2	2
TXK	7294	broad.mit.edu	37	4	48115327	48115327	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48115327C>G	uc003gxx.3	-	c.72_splice	c.e3-1	p.R24_splice	TXK_uc003gxy.1_Splice_Site_SNP_p.R24_splice	NM_003328	NP_003319			TXK tyrosine kinase						protein phosphorylation	cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0										451				0.072917	-1.651174	16.358521	7	89	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48115327	48115327	17342	4	C	G	G	G	416	32	TXK	5	3
CWH43	80157	broad.mit.edu	37	4	48994052	48994052	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48994052C>T	uc003gyv.2	+	c.456C>T	c.(454-456)TCC>TCT	p.S152S	CWH43_uc011bzl.1_Silent_p.S125S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	152					GPI anchor biosynthetic process	integral to membrane				ovary(1)	1														0.132231	21.716046	37.620993	16	105	KEEP	---	---	---	---	capture		Silent	SNP	48994052	48994052	4233	4	C	T	T	T	262	21	CWH43	2	2
SPATA18	132671	broad.mit.edu	37	4	52944959	52944959	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52944959C>A	uc003gzl.2	+	c.1079C>A	c.(1078-1080)TCG>TAG	p.S360*	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.1_Nonsense_Mutation_p.S328*|SPATA18_uc003gzk.1_Nonsense_Mutation_p.S360*	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	360					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)	2			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)											0.221477	76.402626	87.035372	33	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52944959	52944959	15511	4	C	A	A	A	403	31	SPATA18	5	1
NMU	10874	broad.mit.edu	37	4	56471449	56471449	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56471449C>G	uc003hbc.2	-	c.428G>C	c.(427-429)AGA>ACA	p.R143T	NMU_uc003hbd.1_Intron|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Missense_Mutation_p.R58T|NMU_uc010igx.1_Intron	NM_006681	NP_006672	P48645	NMU_HUMAN	neuromedin U precursor	143					neuropeptide signaling pathway	extracellular region					0	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)										0.092593	2.130567	11.157261	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56471449	56471449	10908	4	C	G	G	G	416	32	NMU	3	3
AASDH	132949	broad.mit.edu	37	4	57237744	57237744	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57237744G>C	uc003hbn.2	-	c.734C>G	c.(733-735)TCT>TGT	p.S245C	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S92C|AASDH_uc003hbo.2_Missense_Mutation_p.S145C|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.S245C|AASDH_uc003hbp.2_Missense_Mutation_p.S245C	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	245					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)												0.111111	14.249726	29.056182	11	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57237744	57237744	23	4	G	C	C	C	429	33	AASDH	3	3
UBA6	55236	broad.mit.edu	37	4	68501192	68501192	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68501192C>G	uc003hdg.3	-	c.1821G>C	c.(1819-1821)TTG>TTC	p.L607F	UBA6_uc003hdh.1_Missense_Mutation_p.L133F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	607					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.059701	-4.854291	8.733282	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68501192	68501192	17389	4	C	G	G	G	376	29	UBA6	3	3
UGT2A1	10941	broad.mit.edu	37	4	70460323	70460323	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70460323G>T	uc011caq.1	-	c.1674C>A	c.(1672-1674)CCC>CCA	p.P558P	UGT2A1_uc010ihu.2_Silent_p.P392P|UGT2A1_uc003hem.3_Silent_p.P392P|UGT2A1_uc010iht.2_Silent_p.P348P|UGT2A1_uc010ihs.2_Silent_p.P393P	NM_001105677	NP_001099147	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	392	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1														0.35	59.05641	60.247733	21	39	KEEP	---	---	---	---	capture		Silent	SNP	70460323	70460323	17511	4	G	T	T	T	600	47	UGT2A1	2	2
PROL1	58503	broad.mit.edu	37	4	71275486	71275486	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71275486C>G	uc003hfi.2	+	c.441C>G	c.(439-441)ACC>ACG	p.T147T		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	147	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)												0.198276	44.660541	54.49645	23	93	KEEP	---	---	---	---	capture		Silent	SNP	71275486	71275486	12997	4	C	G	G	G	262	21	PROL1	3	3
SLC4A4	8671	broad.mit.edu	37	4	72306384	72306384	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72306384G>A	uc010iic.2	+	c.859G>A	c.(859-861)GTG>ATG	p.V287M	SLC4A4_uc003hfy.2_Missense_Mutation_p.V287M|SLC4A4_uc010iib.2_Missense_Mutation_p.V287M|SLC4A4_uc003hfz.2_Missense_Mutation_p.V287M|SLC4A4_uc003hgc.3_Missense_Mutation_p.V243M|SLC4A4_uc003hga.2_Missense_Mutation_p.V165M|SLC4A4_uc003hgb.3_Missense_Mutation_p.V243M	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	287	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)	4			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)											0.078947	-1.206145	12.554997	6	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72306384	72306384	15153	4	G	A	A	A	520	40	SLC4A4	1	1
ANKRD17	26057	broad.mit.edu	37	4	73979564	73979564	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73979564G>A	uc003hgp.2	-	c.4346C>T	c.(4345-4347)GCT>GTT	p.A1449V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1336V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1198V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1448V|ANKRD17_uc011cbd.1_Missense_Mutation_p.A1014V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1449	Potential.				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)											0.105263	12.387958	38.823403	18	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73979564	73979564	649	4	G	A	A	A	442	34	ANKRD17	2	2
AFP	174	broad.mit.edu	37	4	74315756	74315756	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74315756G>A	uc003hha.1	+	c.1195G>A	c.(1195-1197)GAA>AAA	p.E399K	AFP_uc003hgz.1_Missense_Mutation_p.E399K|AFP_uc011cbg.1_Missense_Mutation_p.E173K	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	399	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.088235	1.297031	7.12643	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74315756	74315756	364	4	G	A	A	A	429	33	AFP	2	2
SORCS2	57537	broad.mit.edu	37	4	7640086	7640086	+	Missense_Mutation	SNP	G	A	A	rs35727450		TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:7640086G>A	uc003gkb.3	+	c.680G>A	c.(679-681)CGG>CAG	p.R227Q	SORCS2_uc011bwi.1_Missense_Mutation_p.R55Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	227	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2														0.215686	26.021864	29.80878	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7640086	7640086	15431	4	G	A	A	A	507	39	SORCS2	1	1
BMP2K	55589	broad.mit.edu	37	4	79832345	79832345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79832345C>T	uc003hlk.2	+	c.2644C>T	c.(2644-2646)CAA>TAA	p.Q882*	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	882					protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1										318				0.104348	8.408359	26.329852	12	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79832345	79832345	1485	4	C	T	T	T	377	29	BMP2K	5	2
WDFY3	23001	broad.mit.edu	37	4	85623505	85623505	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85623505C>A	uc003hpd.2	-	c.8596_splice	c.e56+1	p.G2866_splice	WDFY3_uc003hpe.1_Splice_Site_SNP_p.G477_splice	NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)										0.123457	14.393632	25.626887	10	71	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	85623505	85623505	17842	4	C	A	A	A	234	18	WDFY3	5	2
PTPN13	5783	broad.mit.edu	37	4	87656020	87656020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87656020C>T	uc003hpy.2	+	c.2143C>T	c.(2143-2145)CAA>TAA	p.Q715*	PTPN13_uc003hpz.2_Nonsense_Mutation_p.Q715*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.Q715*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.Q715*	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	715	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.162437	58.80896	80.124128	32	165	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87656020	87656020	13237	4	C	T	T	T	377	29	PTPN13	5	2
PTPN13	5783	broad.mit.edu	37	4	87706464	87706464	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87706464G>A	uc003hpy.2	+	c.6214G>A	c.(6214-6216)GAG>AAG	p.E2072K	PTPN13_uc003hpz.2_Missense_Mutation_p.E2067K|PTPN13_uc003hqa.2_Missense_Mutation_p.E2048K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1876K|PTPN13_uc003hqc.1_Missense_Mutation_p.E433K	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2067						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.15	4.710943	7.060952	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87706464	87706464	13237	4	G	A	A	A	585	45	PTPN13	2	2
SLCO6A1	133482	broad.mit.edu	37	5	101834473	101834473	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101834473G>C	uc003knn.2	-	c.76C>G	c.(76-78)CGG>GGG	p.R26G	SLCO6A1_uc003kno.2_Missense_Mutation_p.R26G|SLCO6A1_uc003knp.2_Missense_Mutation_p.R26G|SLCO6A1_uc003knq.2_Missense_Mutation_p.R26G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	26	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)										0.106383	9.189086	23.556683	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101834473	101834473	15229	5	G	C	C	C	493	38	SLCO6A1	3	3
PPIP5K2	23262	broad.mit.edu	37	5	102491652	102491652	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102491652G>T	uc003kod.3	+	c.1443G>T	c.(1441-1443)TTG>TTT	p.L481F	PPIP5K2_uc011cva.1_Non-coding_Transcript|PPIP5K2_uc003koe.2_Missense_Mutation_p.L481F|PPIP5K2_uc010jbo.1_Missense_Mutation_p.L403F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	481					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)	1														0.125	3.908217	7.205669	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102491652	102491652	12768	5	G	T	T	T	581	45	PPIP5K2	2	2
CAMK4	814	broad.mit.edu	37	5	110782432	110782432	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110782432C>T	uc011cvj.1	+	c.508C>T	c.(508-510)CTT>TTT	p.L170F	CAMK4_uc003kpf.2_Missense_Mutation_p.L170F|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	170	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)						687				0.104167	4.546312	12.02354	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110782432	110782432	2722	5	C	T	T	T	416	32	CAMK4	2	2
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11082866G>T	uc003jfa.1	-	c.2730C>A	c.(2728-2730)TGC>TGA	p.C910*	CTNND2_uc010itt.2_Nonsense_Mutation_p.C819*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.C573*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.C477*|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Nonsense_Mutation_p.C502*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910	ARM 8.				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														0.287356	61.037725	64.568776	25	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11082866	11082866	4179	5	G	T	T	T	490	38	CTNND2	5	1
APC	324	broad.mit.edu	37	5	112164574	112164574	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112164574A>C	uc010jby.2	+	c.1648A>C	c.(1648-1650)AAT>CAT	p.N550H	APC_uc011cvt.1_Missense_Mutation_p.N532H|APC_uc003kpz.3_Missense_Mutation_p.N550H|APC_uc003kpy.3_Missense_Mutation_p.N550H|APC_uc010jbz.2_Missense_Mutation_p.N267H|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	550	ARM 3.|Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.077922	-1.218246	12.84502	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112164574	112164574	773	5	A	C	C	C	117	9	APC	4	4
MCC	4163	broad.mit.edu	37	5	112437459	112437459	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112437459C>T	uc003kql.3	-	c.1375G>A	c.(1375-1377)GAG>AAG	p.E459K	MCC_uc003kqj.3_Missense_Mutation_p.E269K|MCC_uc003kqk.3_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.E269K|MCC_uc010jcd.1_Missense_Mutation_p.E231K	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	269					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				0.063694	-10.380804	20.722989	10	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112437459	112437459	9762	5	C	T	T	T	416	32	MCC	2	2
FEM1C	56929	broad.mit.edu	37	5	114860290	114860290	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:114860290G>A	uc003krb.1	-	c.1569C>T	c.(1567-1569)GTC>GTT	p.V523V		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	523	ANK 8.					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)										0.134615	36.846386	63.792024	28	180	KEEP	---	---	---	---	capture		Silent	SNP	114860290	114860290	6048	5	G	A	A	A	574	45	FEM1C	2	2
AQPEP	206338	broad.mit.edu	37	5	115350152	115350152	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115350152G>T	uc003kro.2	+	c.2378G>T	c.(2377-2379)TGG>TTG	p.W793L	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	793	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.083333	0.993894	13.698047	6	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115350152	115350152	845	5	G	T	T	T	611	47	AQPEP	2	2
AQPEP	206338	broad.mit.edu	37	5	115351383	115351383	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115351383G>A	uc003kro.2	+	c.2677G>A	c.(2677-2679)GAG>AAG	p.E893K	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	893	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.184211	14.100356	17.657301	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115351383	115351383	845	5	G	A	A	A	585	45	AQPEP	2	2
DTWD2	285605	broad.mit.edu	37	5	118176764	118176764	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118176764G>A	uc003ksa.2	-	c.745C>T	c.(745-747)CAA>TAA	p.Q249*		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	249											0		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)										0.103448	2.603375	7.144016	3	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118176764	118176764	4977	5	G	A	A	A	585	45	DTWD2	5	2
DMXL1	1657	broad.mit.edu	37	5	118454691	118454691	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118454691G>A	uc010jcl.1	+	c.925G>A	c.(925-927)GCT>ACT	p.A309T	DMXL1_uc003ksd.2_Missense_Mutation_p.A309T|DMXL1_uc003ksc.1_Missense_Mutation_p.A309T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	309										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.140351	10.767122	17.882094	8	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118454691	118454691	4776	5	G	A	A	A	598	46	DMXL1	2	2
PRR16	51334	broad.mit.edu	37	5	120021881	120021881	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:120021881C>A	uc003ksq.2	+	c.392C>A	c.(391-393)CCT>CAT	p.P131H	PRR16_uc003ksp.2_Missense_Mutation_p.P108H|PRR16_uc003ksr.2_Missense_Mutation_p.P61H	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	131	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)										0.067358	-9.873698	27.535367	13	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120021881	120021881	13032	5	C	A	A	A	312	24	PRR16	2	2
MEGF10	84466	broad.mit.edu	37	5	126783303	126783303	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126783303C>G	uc003kuh.3	+	c.2783C>G	c.(2782-2784)CCC>CGC	p.P928R	MEGF10_uc003kui.3_Missense_Mutation_p.P928R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	928	Cytoplasmic (Potential).				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.395604	100.339859	101.217546	36	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126783303	126783303	9849	5	C	G	G	G	286	22	MEGF10	3	3
PRRC1	133619	broad.mit.edu	37	5	126883539	126883539	+	Nonsense_Mutation	SNP	G	T	T	rs75277199	byFrequency;by1000genomes	TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126883539G>T	uc003kuk.2	+	c.1054G>T	c.(1054-1056)GAA>TAA	p.E352*	PRRC1_uc003kuj.3_Nonsense_Mutation_p.E352*	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	352						Golgi apparatus					0		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)										0.071429	-2.580718	10.669011	5	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	126883539	126883539	13053	5	G	T	T	T	585	45	PRRC1	5	2
FBN2	2201	broad.mit.edu	37	5	127609548	127609548	+	Silent	SNP	G	T	T	rs28763922	by1000genomes	TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127609548G>T	uc003kuu.2	-	c.7824C>A	c.(7822-7824)ACC>ACA	p.T2608T		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2608	EGF-like 44; calcium-binding.				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)					p.T2608T(NCIH1373-Tumor)	1552				0.307692	34.889608	36.173008	12	27	KEEP	---	---	---	---	capture		Silent	SNP	127609548	127609548	5939	5	G	T	T	T	496	39	FBN2	1	1
FBN2	2201	broad.mit.edu	37	5	127614423	127614423	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127614423C>A	uc003kuu.2	-	c.7249G>T	c.(7249-7251)GGC>TGC	p.G2417C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2417	TB 9.				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				0.085106	0.46344	8.670932	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127614423	127614423	5939	5	C	A	A	A	312	24	FBN2	2	2
CHSY3	337876	broad.mit.edu	37	5	129521162	129521162	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129521162G>C	uc003kvd.2	+	c.2327G>C	c.(2326-2328)AGA>ACA	p.R776T		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	776	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)										0.048077	-12.218598	10.389402	5	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129521162	129521162	3547	5	G	C	C	C	429	33	CHSY3	3	3
SAR1B	51128	broad.mit.edu	37	5	133942682	133942682	+	Silent	SNP	A	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133942682A>C	uc003kzq.2	-	c.555T>G	c.(553-555)GGT>GGG	p.G185G	SAR1B_uc003kzr.2_Silent_p.G185G	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	185					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.06	-9.742062	20.616927	9	141	KEEP	---	---	---	---	capture		Silent	SNP	133942682	133942682	14321	5	A	C	C	C	15	2	SAR1B	4	4
TRPC7	57113	broad.mit.edu	37	5	135610372	135610372	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135610372G>T	uc003lbn.1	-	c.1114C>A	c.(1114-1116)CCG>ACG	p.P372T	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Missense_Mutation_p.P303T|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	373	Extracellular (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)											0.1	3.639809	13.200265	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135610372	135610372	17135	5	G	T	T	T	533	41	TRPC7	2	2
KLHL3	26249	broad.mit.edu	37	5	137045486	137045486	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137045486C>G	uc010jek.2	-	c.194G>C	c.(193-195)CGT>CCT	p.R65P	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25P	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	65	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)										0.141176	19.99822	30.514139	12	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137045486	137045486	8696	5	C	G	G	G	247	19	KLHL3	3	3
KDM3B	51780	broad.mit.edu	37	5	137750928	137750928	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137750928G>A	uc003lcy.1	+	c.3307G>A	c.(3307-3309)GCT>ACT	p.A1103T	KDM3B_uc010jew.1_Missense_Mutation_p.A759T|KDM3B_uc011cys.1_Missense_Mutation_p.A135T	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1103					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.1	6.171075	17.360063	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137750928	137750928	8433	5	G	A	A	A	455	35	KDM3B	2	2
KDM3B	51780	broad.mit.edu	37	5	137756415	137756415	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137756415G>T	uc003lcy.1	+	c.3736G>T	c.(3736-3738)GTG>TTG	p.V1246L	KDM3B_uc010jew.1_Missense_Mutation_p.V902L|KDM3B_uc011cys.1_Missense_Mutation_p.V278L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1246					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.068966	-7.684404	25.678338	12	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137756415	137756415	8433	5	G	T	T	T	572	44	KDM3B	2	2
MATR3	9782	broad.mit.edu	37	5	138655116	138655116	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138655116G>C	uc003ldw.2	+	c.1528G>C	c.(1528-1530)GAT>CAT	p.D510H	MATR3_uc010jfb.2_Missense_Mutation_p.D510H|MATR3_uc003ldt.2_Missense_Mutation_p.D172H|MATR3_uc003ldu.2_Missense_Mutation_p.D510H|MATR3_uc003ldx.2_Missense_Mutation_p.D510H|MATR3_uc010jfc.2_Missense_Mutation_p.D510H|MATR3_uc003ldy.2_Missense_Mutation_p.D187H|MATR3_uc011czb.1_Missense_Mutation_p.D222H|MATR3_uc003ldz.2_Missense_Mutation_p.D510H|MATR3_uc003lea.2_Missense_Mutation_p.D510H|MATR3_uc003leb.2_Missense_Mutation_p.D172H|MATR3_uc003lec.2_Missense_Mutation_p.D187H	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	510	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.057971	-4.057483	10.077431	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138655116	138655116	9721	5	G	C	C	C	585	45	MATR3	3	3
PCDHA6	56142	broad.mit.edu	37	5	140209427	140209427	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209427C>T	uc003lho.2	+	c.1751C>T	c.(1750-1752)TCA>TTA	p.S584L	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_uc011dab.1_Missense_Mutation_p.S584L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	584	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.144928	15.323397	23.678551	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140209427	140209427	11948	5	C	T	T	T	377	29	PCDHA6	2	2
PCDHA8	56140	broad.mit.edu	37	5	140223131	140223131	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140223131C>G	uc003lhs.2	+	c.2225C>G	c.(2224-2226)TCC>TGC	p.S742C	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_uc003lhr.1_Missense_Mutation_p.S742C	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	742	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.088889	2.766159	10.447804	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140223131	140223131	11950	5	C	G	G	G	390	30	PCDHA8	3	3
PCDHB4	56131	broad.mit.edu	37	5	140501962	140501962	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140501962C>T	uc003lip.1	+	c.382C>T	c.(382-384)CAC>TAC	p.H128Y		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	128	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.145833	11.491572	17.283026	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140501962	140501962	11964	5	C	T	T	T	377	29	PCDHB4	2	2
PCDHB6	56130	broad.mit.edu	37	5	140530412	140530412	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140530412G>T	uc003lir.2	+	c.574G>T	c.(574-576)GAG>TAG	p.E192*	PCDHB6_uc011dah.1_Nonsense_Mutation_p.E56*	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	192	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)											0.428571	213.203637	214.015802	78	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140530412	140530412	11966	5	G	T	T	T	533	41	PCDHB6	5	2
PCDHB6	56130	broad.mit.edu	37	5	140531612	140531612	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140531612G>T	uc003lir.2	+	c.1774G>T	c.(1774-1776)GGC>TGC	p.G592C	PCDHB6_uc011dah.1_Missense_Mutation_p.G456C	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	592	Cadherin 6.|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)											0.272727	23.965469	25.498702	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140531612	140531612	11966	5	G	T	T	T	507	39	PCDHB6	1	1
PCDHB12	56124	broad.mit.edu	37	5	140589561	140589561	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140589561C>A	uc003liz.2	+	c.1082C>A	c.(1081-1083)CCA>CAA	p.P361Q	PCDHB12_uc011dak.1_Missense_Mutation_p.P24Q	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	361	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.055556	-10.834525	11.610846	6	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140589561	140589561	11957	5	C	A	A	A	273	21	PCDHB12	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140724883	140724883	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140724883G>T	uc003ljm.1	+	c.1283G>T	c.(1282-1284)GGA>GTA	p.G428V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.G188V|PCDHGA3_uc011dap.1_Missense_Mutation_p.G428V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.061856	-7.666451	11.701096	6	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140724883	140724883	11975	5	G	T	T	T	533	41	PCDHGA3	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140726007	140726007	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140726007G>A	uc003ljm.1	+	c.2407G>A	c.(2407-2409)GAT>AAT	p.D803N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.D563N|PCDHGA3_uc011dap.1_Missense_Mutation_p.D803N	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	803	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.054795	-6.662768	8.578708	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140726007	140726007	11975	5	G	A	A	A	429	33	PCDHGA3	2	2
PCDHGA4	56111	broad.mit.edu	37	5	140735631	140735631	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140735631A>T	uc003ljq.1	+	c.864A>T	c.(862-864)ATA>ATT	p.I288I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.I288I	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	288	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.153846	11.326923	15.793	6	33	KEEP	---	---	---	---	capture		Silent	SNP	140735631	140735631	11976	5	A	T	T	T	202	16	PCDHGA4	3	3
PCDHGA6	56109	broad.mit.edu	37	5	140754546	140754546	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140754546G>T	uc003ljy.1	+	c.896G>T	c.(895-897)GGA>GTA	p.G299V	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_uc011dau.1_Missense_Mutation_p.G299V	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	299	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.104167	3.036685	10.525184	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140754546	140754546	11978	5	G	T	T	T	533	41	PCDHGA6	2	2
PCDHGB6	56100	broad.mit.edu	37	5	140789008	140789008	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140789008G>A	uc003lkj.1	+	c.1239G>A	c.(1237-1239)GAG>GAA	p.E413E	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_Silent_p.E413E	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	413	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)											0.075472	-1.243856	8.554961	4	49	KEEP	---	---	---	---	capture		Silent	SNP	140789008	140789008	11987	5	G	A	A	A	438	34	PCDHGB6	2	2
PCDHGA10	56106	broad.mit.edu	37	5	140794648	140794648	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140794648C>A	uc003lkl.1	+	c.1906C>A	c.(1906-1908)CTG>ATG	p.L636M	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_uc011day.1_Missense_Mutation_p.L636M|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	636	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.24	14.53689	16.079956	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140794648	140794648	11971	5	C	A	A	A	311	24	PCDHGA10	2	2
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140856119G>A	uc003lkv.1	+	c.436G>A	c.(436-438)GAG>AAG	p.E146K	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_uc003lku.1_Missense_Mutation_p.E146K|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	146	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.12963	8.686831	15.899953	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140856119	140856119	11989	5	G	A	A	A	481	37	PCDHGC3	1	1
PCDH1	5097	broad.mit.edu	37	5	141236898	141236898	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141236898C>A	uc003llp.2	-	c.3238G>T	c.(3238-3240)GGT>TGT	p.G1080C		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)								0.157895	5.519108	7.634353	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141236898	141236898	11926	5	C	A	A	A	299	23	PCDH1	1	1
YIPF5	81555	broad.mit.edu	37	5	143545014	143545014	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:143545014C>T	uc003lnk.3	-	c.265G>A	c.(265-267)GAG>AAG	p.E89K	YIPF5_uc003lnl.3_Missense_Mutation_p.E89K|YIPF5_uc010jgl.2_Missense_Mutation_p.E35K	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	89	Cytoplasmic (Potential).|Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				ovary(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)											0.057143	-6.060923	8.3543	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143545014	143545014	18064	5	C	T	T	T	377	29	YIPF5	2	2
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:145651095C>G	uc003lnz.3	+	c.2846C>G	c.(2845-2847)TCT>TGT	p.S949C		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.084746	1.433229	11.757118	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145651095	145651095	13589	5	C	G	G	G	416	32	RBM27	3	3
ABLIM3	22885	broad.mit.edu	37	5	148630009	148630009	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148630009G>T	uc003lpy.2	+	c.1730_splice	c.e20-1	p.D577_splice	ABLIM3_uc003lpz.1_Splice_Site_SNP_p.D577_splice|ABLIM3_uc003lqa.1_Splice_Site_SNP_p.D474_splice|ABLIM3_uc003lqb.2_Splice_Site_SNP_p.D466_splice|ABLIM3_uc003lqc.1_Splice_Site_SNP_p.D544_splice|ABLIM3_uc003lqd.1_Splice_Site_SNP_p.D482_splice|ABLIM3_uc003lqf.2_Splice_Site_SNP_p.D466_splice|ABLIM3_uc003lqe.1_Splice_Site_SNP_p.D466_splice	NM_014945	NP_055760			actin binding LIM protein family, member 3						axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.116279	4.942944	11.176362	5	38	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	148630009	148630009	97	5	G	T	T	T	429	33	ABLIM3	5	2
ABLIM3	22885	broad.mit.edu	37	5	148637877	148637877	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148637877C>G	uc003lpy.2	+	c.1962C>G	c.(1960-1962)TTC>TTG	p.F654L	ABLIM3_uc003lpz.1_Missense_Mutation_p.F654L|ABLIM3_uc003lqa.1_Missense_Mutation_p.F551L|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.F621L|ABLIM3_uc003lqd.1_Missense_Mutation_p.F559L|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Missense_Mutation_p.F543L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	654	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.078125	-1.278488	10.370982	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148637877	148637877	97	5	C	G	G	G	415	32	ABLIM3	3	3
CSF1R	1436	broad.mit.edu	37	5	149433716	149433716	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149433716C>T	uc003lrl.2	-	c.2835G>A	c.(2833-2835)GAG>GAA	p.E945E	CSF1R_uc011dcd.1_3'UTR|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Silent_p.E945E	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	945	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				0.096774	2.001579	7.052977	3	28	KEEP	---	---	---	---	capture		Silent	SNP	149433716	149433716	4073	5	C	T	T	T	415	32	CSF1R	2	2
NDST1	3340	broad.mit.edu	37	5	149907591	149907591	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149907591G>C	uc003lsk.3	+	c.739G>C	c.(739-741)GAG>CAG	p.E247Q	NDST1_uc011dcj.1_Missense_Mutation_p.E247Q|NDST1_uc003lsl.2_Missense_Mutation_p.E247Q	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	247	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.117647	5.375725	10.261692	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149907591	149907591	10654	5	G	C	C	C	585	45	NDST1	3	3
FAT2	2196	broad.mit.edu	37	5	150948363	150948363	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150948363C>T	uc003lue.3	-	c.130G>A	c.(130-132)GAA>AAA	p.E44K	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.E44K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	44	Extracellular (Potential).|Cadherin 1.				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)											0.067797	-6.098836	16.721592	8	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150948363	150948363	5926	5	C	T	T	T	377	29	FAT2	2	2
KIF4B	285643	broad.mit.edu	37	5	154394300	154394300	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154394300C>A	uc010jih.1	+	c.881C>A	c.(880-882)ACT>AAT	p.T294N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	294	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.051546	-21.132667	20.087636	10	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154394300	154394300	8615	5	C	A	A	A	260	20	KIF4B	2	2
TIMD4	91937	broad.mit.edu	37	5	156378570	156378570	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156378570C>A	uc003lwh.2	-	c.632G>T	c.(631-633)GGT>GTT	p.G211V	TIMD4_uc010jii.2_Missense_Mutation_p.G211V	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	211	Extracellular (Potential).|Thr-rich.					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.267606	44.82716	48.269646	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156378570	156378570	16432	5	C	A	A	A	234	18	TIMD4	2	2
MED7	9443	broad.mit.edu	37	5	156565908	156565908	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156565908C>G	uc010jik.2	-	c.535G>C	c.(535-537)GAA>CAA	p.E179Q	MED7_uc003lwm.3_Missense_Mutation_p.E179Q	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	179					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|RNA polymerase II transcription mediator activity|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.146067	23.213979	33.933698	13	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156565908	156565908	9841	5	C	G	G	G	416	32	MED7	3	3
ADAM19	8728	broad.mit.edu	37	5	156940497	156940497	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156940497C>T	uc003lwz.2	-	c.683G>A	c.(682-684)CGA>CAA	p.R228Q	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.R159Q	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	228	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.054795	-7.348411	7.882392	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156940497	156940497	241	5	C	T	T	T	403	31	ADAM19	1	1
CLINT1	9685	broad.mit.edu	37	5	157241262	157241262	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157241262C>A	uc011ddv.1	-	c.283G>T	c.(283-285)GAG>TAG	p.E95*	CLINT1_uc003lxi.1_Nonsense_Mutation_p.E77*|CLINT1_uc003lxj.1_Nonsense_Mutation_p.E95*	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	95	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Colon(22;427 587 2170 6147 14291)								0.2	10.463727	12.554679	5	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	157241262	157241262	3669	5	C	A	A	A	416	32	CLINT1	5	2
MYO10	4651	broad.mit.edu	37	5	16711277	16711277	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16711277G>C	uc003jft.3	-	c.2007C>G	c.(2005-2007)CGC>CGG	p.R669R	MYO10_uc011cnd.1_Silent_p.R26R|MYO10_uc011cne.1_Silent_p.R26R|MYO10_uc010itx.2_Silent_p.R292R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	669	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3														0.088235	1.897837	7.725708	3	31	KEEP	---	---	---	---	capture		Silent	SNP	16711277	16711277	10457	5	G	C	C	C	587	46	MYO10	3	3
ODZ2	57451	broad.mit.edu	37	5	167645751	167645751	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167645751T>C	uc010jjd.2	+	c.4828T>C	c.(4828-4830)TAT>CAT	p.Y1610H	ODZ2_uc003lzr.3_Missense_Mutation_p.Y1380H|ODZ2_uc003lzt.3_Missense_Mutation_p.Y983H|ODZ2_uc010jje.2_Missense_Mutation_p.Y874H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.173913	44.60651	56.087943	20	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167645751	167645751	11240	5	T	C	C	C	637	49	ODZ2	4	4
SLIT3	6586	broad.mit.edu	37	5	168093540	168093540	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168093540G>T	uc010jjg.2	-	c.4512C>A	c.(4510-4512)TAC>TAA	p.Y1504*	SLIT3_uc003mab.2_Nonsense_Mutation_p.Y1497*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1497	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.375	17.257111	17.472169	6	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	168093540	168093540	15239	5	G	T	T	T	516	40	SLIT3	5	1
SLIT3	6586	broad.mit.edu	37	5	168250306	168250306	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168250306G>T	uc010jjg.2	-	c.588C>A	c.(586-588)ATC>ATA	p.I196I	SLIT3_uc003mab.2_Silent_p.I196I|SLIT3_uc010jji.2_Silent_p.I196I|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	196	LRR 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.213904	83.22969	97.350483	40	147	KEEP	---	---	---	---	capture		Silent	SNP	168250306	168250306	15239	5	G	T	T	T	525	41	SLIT3	2	2
RANBP17	64901	broad.mit.edu	37	5	170640726	170640726	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170640726G>C	uc003mba.2	+	c.2323G>C	c.(2323-2325)GAA>CAA	p.E775Q	RANBP17_uc003mbb.2_Missense_Mutation_p.E100Q|RANBP17_uc003mbd.2_Missense_Mutation_p.E138Q|RANBP17_uc010jjs.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	775					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							661				0.072165	-1.957439	16.329364	7	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170640726	170640726	13487	5	G	C	C	C	429	33	RANBP17	3	3
C5orf25	375484	broad.mit.edu	37	5	175722177	175722177	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175722177G>T	uc011dfk.1	+	c.1576G>T	c.(1576-1578)GCT>TCT	p.A526S	C5orf25_uc003mdt.3_Missense_Mutation_p.A92S|C5orf25_uc003mds.3_Missense_Mutation_p.A507S|C5orf25_uc003mdr.3_Non-coding_Transcript	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	hypothetical protein LOC375484	507											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)										0.171429	10.233612	13.803117	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175722177	175722177	2386	5	G	T	T	T	546	42	C5orf25	2	2
ZFP2	80108	broad.mit.edu	37	5	178359027	178359027	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178359027G>C	uc003mjn.1	+	c.713G>C	c.(712-714)GGA>GCA	p.G238A	ZFP2_uc010jky.2_Missense_Mutation_p.G238A|ZFP2_uc010jkx.1_Missense_Mutation_p.G238A	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)										0.172414	22.013298	27.894048	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178359027	178359027	18229	5	G	C	C	C	533	41	ZFP2	3	3
HNRNPH1	3187	broad.mit.edu	37	5	179048375	179048375	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179048375G>C	uc003mkf.3	-	c.121C>G	c.(121-123)CAA>GAA	p.Q41E	HNRNPH1_uc003mkg.3_5'UTR|HNRNPH1_uc003mke.3_Missense_Mutation_p.Q41E|HNRNPH1_uc003mkh.3_Missense_Mutation_p.Q41E	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	41	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0										310				0.133333	6.980688	10.893615	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179048375	179048375	7558	5	G	C	C	C	585	45	HNRNPH1	3	3
FLT4	2324	broad.mit.edu	37	5	180038434	180038434	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180038434C>T	uc003mlz.3	-	c.3583G>A	c.(3583-3585)GAA>AAA	p.E1195K	FLT4_uc003mma.3_Missense_Mutation_p.E1195K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	1195	Cytoplasmic (Potential).				positive regulation of cell proliferation|protein phosphorylation	integral to plasma membrane	ATP binding|protein binding|vascular endothelial growth factor receptor activity			lung(3)|ovary(1)|central_nervous_system(1)|kidney(1)|skin(1)	7	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	Colon(97;1075 1466 27033 27547 35871)				2638				0.1	5.174956	16.362506	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180038434	180038434	6186	5	C	T	T	T	416	32	FLT4	2	2
CDH12	1010	broad.mit.edu	37	5	21752318	21752318	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21752318C>T	uc010iuc.2	-	c.1913G>A	c.(1912-1914)CGA>CAA	p.R638Q	CDH12_uc011cno.1_Missense_Mutation_p.R598Q|CDH12_uc003jgk.2_Missense_Mutation_p.R638Q	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	638	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.126316	16.438454	29.381545	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21752318	21752318	3227	5	C	T	T	T	403	31	CDH12	1	1
PRDM9	56979	broad.mit.edu	37	5	23527708	23527708	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23527708T>A	uc003jgo.2	+	c.2511T>A	c.(2509-2511)TGT>TGA	p.C837*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	837	C2H2-type 13.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.258621	100.507144	109.777474	45	129	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23527708	23527708	12906	5	T	A	A	A	764	59	PRDM9	5	3
CDH9	1007	broad.mit.edu	37	5	26906096	26906096	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906096G>A	uc003jgs.1	-	c.783C>T	c.(781-783)GTC>GTT	p.V261V	CDH9_uc010iug.2_Silent_p.V261V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	261	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.364407	118.384093	120.296018	43	75	KEEP	---	---	---	---	capture		Silent	SNP	26906096	26906096	3246	5	G	A	A	A	574	45	CDH9	2	2
CDH6	1004	broad.mit.edu	37	5	31323244	31323244	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31323244C>G	uc003jhe.1	+	c.2202C>G	c.(2200-2202)TCC>TCG	p.S734S		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	734	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|large_intestine(1)	5														0.142857	5.64831	9.955813	5	30	KEEP	---	---	---	---	capture		Silent	SNP	31323244	31323244	3243	5	C	G	G	G	301	24	CDH6	3	3
MTMR12	54545	broad.mit.edu	37	5	32230288	32230288	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32230288C>G	uc003jhq.2	-	c.1840G>C	c.(1840-1842)GAC>CAC	p.D614H	MTMR12_uc010iuk.2_Missense_Mutation_p.D560H|MTMR12_uc010iul.2_Missense_Mutation_p.D504H	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	614	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1														0.070707	-0.83781	17.960326	7	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32230288	32230288	10334	5	C	G	G	G	377	29	MTMR12	3	3
ZFR	51663	broad.mit.edu	37	5	32404184	32404184	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32404184C>T	uc003jhr.1	-	c.1051G>A	c.(1051-1053)GAA>AAA	p.E351K		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	351					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)										0.061947	-7.772555	14.84948	7	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32404184	32404184	18249	5	C	T	T	T	416	32	ZFR	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33637777	33637777	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33637777G>C	uc003jia.1	-	c.1793C>G	c.(1792-1794)TCA>TGA	p.S598*	ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.S598*	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	598	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.123894	19.936432	35.653815	14	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33637777	33637777	258	5	G	C	C	C	585	45	ADAMTS12	5	3
RAI14	26064	broad.mit.edu	37	5	34823763	34823763	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34823763G>A	uc003jis.2	+	c.1825G>A	c.(1825-1827)GAA>AAA	p.E609K	RAI14_uc003jir.2_Missense_Mutation_p.E606K|RAI14_uc010iur.2_Missense_Mutation_p.E577K|RAI14_uc011coj.1_Missense_Mutation_p.E606K|RAI14_uc003jit.2_Missense_Mutation_p.E606K|RAI14_uc011cok.1_Missense_Mutation_p.E598K	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform d	606	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.261261	75.635781	81.354997	29	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34823763	34823763	13468	5	G	A	A	A	429	33	RAI14	2	2
RAD1	5810	broad.mit.edu	37	5	34911807	34911807	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34911807C>T	uc003jix.2	-	c.418G>A	c.(418-420)GAG>AAG	p.E140K	RAD1_uc003jiw.2_Missense_Mutation_p.E31K|RAD1_uc003jiy.2_Missense_Mutation_p.E140K	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	140					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)											0.213115	29.140134	33.780383	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34911807	34911807	13437	5	C	T	T	T	377	29	RAD1	2	2
PRLR	5618	broad.mit.edu	37	5	35086356	35086356	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35086356C>G	uc003jjm.2	-	c.157G>C	c.(157-159)GAT>CAT	p.D53H	PRLR_uc003jjg.1_Missense_Mutation_p.D53H|PRLR_uc003jjh.1_Missense_Mutation_p.D53H|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Missense_Mutation_p.D53H|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	prolactin receptor precursor	53	Fibronectin type-III 1.|Extracellular (Potential).				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			ovary(2)	2	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)									0.049689	-16.239063	18.406792	8	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35086356	35086356	12974	5	C	G	G	G	416	32	PRLR	3	3
NIPBL	25836	broad.mit.edu	37	5	37060969	37060969	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37060969C>G	uc003jkl.3	+	c.7709C>G	c.(7708-7710)TCT>TGT	p.S2570C	NIPBL_uc003jkk.3_Missense_Mutation_p.S2570C|NIPBL_uc003jkn.2_Missense_Mutation_p.S263C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2570					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.235294	33.275873	36.542417	12	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37060969	37060969	10829	5	C	G	G	G	416	32	NIPBL	3	3
C5orf42	65250	broad.mit.edu	37	5	37180167	37180167	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37180167C>G	uc011cpa.1	-	c.5689G>C	c.(5689-5691)GAA>CAA	p.E1897Q	C5orf42_uc011coy.1_Missense_Mutation_p.E397Q|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.E972Q	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	810										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.063158	-4.230935	14.647421	6	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37180167	37180167	2399	5	C	G	G	G	416	32	C5orf42	3	3
EGFLAM	133584	broad.mit.edu	37	5	38338834	38338834	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38338834T>A	uc003jlc.1	+	c.242T>A	c.(241-243)CTG>CAG	p.L81Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.L81Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	81	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.395349	50.965014	51.377419	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38338834	38338834	5155	5	T	A	A	A	715	55	EGFLAM	3	3
EGFLAM	133584	broad.mit.edu	37	5	38464007	38464007	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38464007C>T	uc003jlc.1	+	c.2973C>T	c.(2971-2973)TTC>TTT	p.F991F	EGFLAM_uc003jlb.1_Silent_p.F983F|EGFLAM_uc003jle.1_Silent_p.F749F|EGFLAM_uc003jlf.1_Silent_p.F349F|EGFLAM_uc003jlg.1_Silent_p.F126F|EGFLAM_uc003jlh.1_Silent_p.F73F	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	991	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|ovary(1)	4	all_lung(31;0.000385)					Colon(62;485 1295 3347 17454)								0.12069	6.078057	14.27267	7	51	KEEP	---	---	---	---	capture		Silent	SNP	38464007	38464007	5155	5	C	T	T	T	376	29	EGFLAM	2	2
RICTOR	253260	broad.mit.edu	37	5	38953092	38953092	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38953092G>A	uc003jlo.2	-	c.2892C>T	c.(2890-2892)ATC>ATT	p.I964I	RICTOR_uc003jlp.2_Silent_p.I964I|RICTOR_uc010ivf.2_Silent_p.I679I	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	964					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	all_lung(31;0.000396)									698				0.059524	-6.797986	10.259438	5	79	KEEP	---	---	---	---	capture		Silent	SNP	38953092	38953092	13833	5	G	A	A	A	577	45	RICTOR	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41004477	41004477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41004477C>A	uc003jmj.3	-	c.4165G>T	c.(4165-4167)GTG>TTG	p.V1389L	HEATR7B2_uc003jmi.3_Missense_Mutation_p.V944L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1389	HEAT 15.						binding			ovary(6)|central_nervous_system(2)	8														0.207921	94.318044	110.305626	42	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41004477	41004477	7318	5	C	A	A	A	260	20	HEATR7B2	2	2
MGC42105	167359	broad.mit.edu	37	5	43280109	43280109	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43280109C>G	uc003jno.2	+	c.589C>G	c.(589-591)CTG>GTG	p.L197V		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	197	Protein kinase.				protein phosphorylation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9										94				0.064516	-2.552905	9.669482	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43280109	43280109	9942	5	C	G	G	G	415	32	MGC42105	3	3
ITGA1	3672	broad.mit.edu	37	5	52240774	52240774	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52240774C>G	uc003jou.2	+	c.3287C>G	c.(3286-3288)TCA>TGA	p.S1096*	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Nonsense_Mutation_p.S627*	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	1096	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.125	16.992032	27.983099	10	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52240774	52240774	8176	5	C	G	G	G	377	29	ITGA1	5	3
ADAMTS16	170690	broad.mit.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5239824G>C	uc003jdl.2	+	c.2309G>C	c.(2308-2310)GGA>GCA	p.G770A	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G770A	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.11875	26.170234	48.958466	19	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5239824	5239824	262	5	G	C	C	C	533	41	ADAMTS16	3	3
DHX29	54505	broad.mit.edu	37	5	54572151	54572151	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54572151C>A	uc003jpx.2	-	c.2370G>T	c.(2368-2370)GAG>GAT	p.E790D	DHX29_uc010ivw.2_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	790	Poly-Glu.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)	3		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)												0.090909	2.496542	13.634528	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54572151	54572151	4682	5	C	A	A	A	311	24	DHX29	2	2
ADAMTS6	11174	broad.mit.edu	37	5	64492904	64492904	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:64492904C>A	uc003jtp.2	-	c.2650G>T	c.(2650-2652)GAC>TAC	p.D884Y	ADAMTS6_uc003jto.2_Non-coding_Transcript|ADAMTS6_uc003jtq.2_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	884	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)										0.166667	12.796716	17.223751	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64492904	64492904	271	5	C	A	A	A	377	29	ADAMTS6	2	2
MAST4	375449	broad.mit.edu	37	5	66460254	66460254	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66460254G>C	uc003jut.1	+	c.4680G>C	c.(4678-4680)CAG>CAC	p.Q1560H	MAST4_uc003juw.2_Missense_Mutation_p.Q1488H|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1752					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)						805				0.088889	2.464973	10.147943	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66460254	66460254	9711	5	G	C	C	C	425	33	MAST4	3	3
GCNT4	51301	broad.mit.edu	37	5	74325615	74325615	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74325615T>A	uc003kdn.2	-	c.248A>T	c.(247-249)GAA>GTA	p.E83V		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	83	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)										0.104348	6.52804	24.436378	12	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74325615	74325615	6569	5	T	A	A	A	806	62	GCNT4	3	3
TBCA	6902	broad.mit.edu	37	5	77004067	77004067	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:77004067C>A	uc003kfi.1	-	c.159G>T	c.(157-159)CAG>CAT	p.Q53H	TBCA_uc003kfh.1_Missense_Mutation_p.Q53H	NM_004607	NP_004598	O75347	TBCA_HUMAN	tubulin-specific chaperone a	53					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			ovary(1)	1		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)										0.108108	4.371227	10.005607	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77004067	77004067	16155	5	C	A	A	A	311	24	TBCA	2	2
ADCY2	108	broad.mit.edu	37	5	7724674	7724674	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7724674G>A	uc003jdz.1	+	c.1720G>A	c.(1720-1722)GAA>AAA	p.E574K	ADCY2_uc011cmo.1_Missense_Mutation_p.E394K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	574	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.073529	-3.475019	9.238306	5	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7724674	7724674	295	5	G	A	A	A	585	45	ADCY2	2	2
JMY	133746	broad.mit.edu	37	5	78610650	78610650	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78610650G>A	uc003kfx.3	+	c.2635G>A	c.(2635-2637)GCT>ACT	p.A879T	JMY_uc003kfw.1_Missense_Mutation_p.A525T	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	879					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity				0		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)										0.109091	4.40829	12.736312	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78610650	78610650	8261	5	G	A	A	A	598	46	JMY	2	2
SPATA9	83890	broad.mit.edu	37	5	95011344	95011344	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95011344C>G	uc003klj.1	-	c.151_splice	c.e3-1	p.K51_splice	SPATA9_uc010jbh.1_Splice_Site_SNP|SPATA9_uc003klh.1_Splice_Site_SNP|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158			spermatogenesis associated 9						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)										0.065217	-2.51357	6.518317	3	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	95011344	95011344	15526	5	C	G	G	G	416	32	SPATA9	5	3
RHOBTB3	22836	broad.mit.edu	37	5	95072761	95072761	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95072761G>T	uc003klm.2	+	c.397G>T	c.(397-399)GTT>TTT	p.V133F	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	133	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)	1		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)										0.272727	33.684038	35.73027	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95072761	95072761	13810	5	G	T	T	T	624	48	RHOBTB3	2	2
ELL2	22936	broad.mit.edu	37	5	95234077	95234077	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95234077C>G	uc003klr.3	-	c.1392G>C	c.(1390-1392)AAG>AAC	p.K464N		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	464					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)										0.108911	14.548751	29.853104	11	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95234077	95234077	5255	5	C	G	G	G	415	32	ELL2	3	3
ELL2	22936	broad.mit.edu	37	5	95242433	95242433	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95242433C>G	uc003klr.3	-	c.535G>C	c.(535-537)GAG>CAG	p.E179Q		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	179					transcription elongation from RNA polymerase II promoter	transcription elongation factor complex	RNA polymerase II transcription elongation factor activity|RNA polymerase II transcription factor activity				0		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)										0.080645	2.024784	13.138738	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95242433	95242433	5255	5	C	G	G	G	377	29	ELL2	3	3
MCHR2	84539	broad.mit.edu	37	6	100395739	100395739	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100395739T>A	uc003pqh.1	-	c.291A>T	c.(289-291)GGA>GGT	p.G97G	MCHR2_uc003pqi.1_Silent_p.G97G	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	97	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)										0.197183	25.43087	31.482979	14	57	KEEP	---	---	---	---	capture		Silent	SNP	100395739	100395739	9772	6	T	A	A	A	691	54	MCHR2	3	3
QRSL1	55278	broad.mit.edu	37	6	107088379	107088379	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107088379G>C	uc003prm.2	+	c.180G>C	c.(178-180)AAG>AAC	p.K60N	QRSL1_uc003prl.2_Missense_Mutation_p.K60N	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	60					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		NSCLC(192;2127 2142 11668 26277 49545)								0.111111	5.072172	10.455984	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107088379	107088379	13339	6	G	C	C	C	425	33	QRSL1	3	3
QRSL1	55278	broad.mit.edu	37	6	107110970	107110970	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107110970G>A	uc003prm.2	+	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	426					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		NSCLC(192;2127 2142 11668 26277 49545)								0.073171	-0.905983	6.772743	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107110970	107110970	13339	6	G	A	A	A	585	45	QRSL1	2	2
FOXO3	2309	broad.mit.edu	37	6	108882901	108882901	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108882901G>A	uc003psk.2	+	c.490G>A	c.(490-492)GAC>AAC	p.D164N	FOXO3_uc003psn.2_Missense_Mutation_p.D164N|FOXO3_uc003psm.2_Missense_Mutation_p.D164N	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	164	Fork-head.				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)					p.D164N(L3.3-Tumor)	42				0.3	8.022296	8.378995	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108882901	108882901	6270	6	G	A	A	A	533	41	FOXO3	2	2
GPR6	2830	broad.mit.edu	37	6	110301280	110301280	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110301280C>A	uc011eav.1	+	c.1010C>A	c.(1009-1011)TCC>TAC	p.S337Y	GPR6_uc011eaw.1_Missense_Mutation_p.S322Y|GPR6_uc003ptu.2_Missense_Mutation_p.S322Y	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	322	Helical; Name=7; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)										0.186047	31.045646	38.994588	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110301280	110301280	6976	6	C	A	A	A	390	30	GPR6	2	2
WASF1	8936	broad.mit.edu	37	6	110428333	110428333	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110428333C>G	uc003ptv.1	-	c.487G>C	c.(487-489)GAA>CAA	p.E163Q	WASF1_uc003ptw.1_Missense_Mutation_p.E163Q|WASF1_uc003ptx.1_Missense_Mutation_p.E163Q|WASF1_uc003pty.1_Missense_Mutation_p.E163Q|WASF1_uc003ptz.1_Missense_Mutation_p.E163Q	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	163					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)										0.105263	9.74233	21.512658	8	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110428333	110428333	17824	6	C	G	G	G	416	32	WASF1	3	3
CDK19	23097	broad.mit.edu	37	6	110988772	110988772	+	Silent	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110988772A>G	uc003puh.1	-	c.321T>C	c.(319-321)ATT>ATC	p.I107I	CDK19_uc003pui.1_Silent_p.I47I	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	107	Protein kinase.				protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3										158				0.111111	3.905809	7.94204	3	24	KEEP	---	---	---	---	capture		Silent	SNP	110988772	110988772	3264	6	A	G	G	G	164	13	CDK19	4	4
ECHDC1	55862	broad.mit.edu	37	6	127636043	127636043	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127636043T>C	uc003qax.2	-	c.435_splice	c.e5-1	p.R145_splice	ECHDC1_uc003qaz.3_Splice_Site_SNP_p.R139_splice|ECHDC1_uc010key.2_Splice_Site_SNP_p.R64_splice|ECHDC1_uc003qay.3_Splice_Site_SNP_p.T122_splice|ECHDC1_uc010kez.2_Splice_Site_SNP_p.T47_splice|ECHDC1_uc010kex.2_Splice_Site_SNP	NM_001139510	NP_001132982			enoyl Coenzyme A hydratase domain containing 1								catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)										0.145833	15.904224	27.661638	14	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	127636043	127636043	5080	6	T	C	C	C	715	55	ECHDC1	5	4
CTGF	1490	broad.mit.edu	37	6	132271100	132271100	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132271100C>T	uc003qcz.2	-	c.742G>A	c.(742-744)GAG>AAG	p.E248K		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	248	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		Esophageal Squamous(127;510 1660 12817 24400 38449)						OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.153846	7.78245	10.761503	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132271100	132271100	4167	6	C	T	T	T	416	32	CTGF	2	2
CTGF	1490	broad.mit.edu	37	6	132271222	132271222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132271222C>A	uc003qcz.2	-	c.620G>T	c.(619-621)AGC>ATC	p.S207I		NM_001901	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor precursor	207	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding				0	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		Esophageal Squamous(127;510 1660 12817 24400 38449)						OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.230769	12.334666	14.064009	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132271222	132271222	4167	6	C	A	A	A	364	28	CTGF	2	2
C6orf192	116843	broad.mit.edu	37	6	133118163	133118163	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133118163G>A	uc003qdw.1	-	c.141C>T	c.(139-141)TCC>TCT	p.S47S	C6orf192_uc011eco.1_5'UTR	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	47	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)										0.185185	49.3969	61.942526	25	110	KEEP	---	---	---	---	capture		Silent	SNP	133118163	133118163	2454	6	G	A	A	A	600	47	C6orf192	2	2
EYA4	2070	broad.mit.edu	37	6	133804194	133804194	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133804194G>A	uc011ecs.1	+	c.1150G>A	c.(1150-1152)GAA>AAA	p.E384K	EYA4_uc011ecq.1_Missense_Mutation_p.E324K|EYA4_uc011ecr.1_Missense_Mutation_p.E330K|EYA4_uc003qec.3_Missense_Mutation_p.E378K|EYA4_uc003qed.3_Missense_Mutation_p.E378K|EYA4_uc003qee.3_Missense_Mutation_p.E355K	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	378					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		Melanoma(57;398 1237 3528 4702 7415)								0.083333	0.600413	13.299152	6	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133804194	133804194	5525	6	G	A	A	A	585	45	EYA4	2	2
ALDH8A1	64577	broad.mit.edu	37	6	135239743	135239743	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135239743G>A	uc003qew.2	-	c.1274C>T	c.(1273-1275)TCC>TTC	p.S425F	ALDH8A1_uc003qex.2_Missense_Mutation_p.S371F|ALDH8A1_uc010kgh.2_Missense_Mutation_p.S203F|ALDH8A1_uc011ecx.1_Missense_Mutation_p.S375F	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	425					oxidation-reduction process|retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)	3	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)										0.176471	5.314938	6.992181	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135239743	135239743	508	6	G	A	A	A	533	41	ALDH8A1	2	2
PDE7B	27115	broad.mit.edu	37	6	136468561	136468561	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136468561A>G	uc003qgr.2	+	c.395A>G	c.(394-396)CAT>CGT	p.H132R	PDE7B_uc003qgp.2_Missense_Mutation_p.H80R	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	80					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)									0.13253	14.367267	25.256213	11	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136468561	136468561	12073	6	A	G	G	G	104	8	PDE7B	4	4
MAP3K5	4217	broad.mit.edu	37	6	137112905	137112905	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137112905G>A	uc003qhc.2	-	c.391C>T	c.(391-393)CAT>TAT	p.H131Y	MAP3K5_uc011edk.1_5'Flank|MAP3K5_uc010kgw.1_Missense_Mutation_p.H131Y	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	131					activation of JUN kinase activity|activation of MAPKK activity|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)						1151				0.111111	5.543651	16.320612	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137112905	137112905	9636	6	G	A	A	A	598	46	MAP3K5	2	2
GRM1	2911	broad.mit.edu	37	6	146719982	146719982	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146719982G>A	uc010khw.1	+	c.1807G>A	c.(1807-1809)GGA>AGA	p.G603R	GRM1_uc010khv.1_Missense_Mutation_p.G603R|GRM1_uc003qll.2_Missense_Mutation_p.G603R|GRM1_uc011edz.1_Missense_Mutation_p.G603R|GRM1_uc011eea.1_Missense_Mutation_p.G603R	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	603	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.134557	70.107085	112.341965	44	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146719982	146719982	7075	6	G	A	A	A	559	43	GRM1	2	2
TAB2	23118	broad.mit.edu	37	6	149700305	149700305	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149700305C>T	uc003qmj.2	+	c.1254C>T	c.(1252-1254)GCC>GCT	p.A418A	TAB2_uc011eec.1_Silent_p.A386A|TAB2_uc010kia.1_Silent_p.A418A|TAB2_uc010kib.1_Silent_p.A418A|TAB2_uc003qmk.3_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	418					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0										127				0.240506	45.481551	50.340728	19	60	KEEP	---	---	---	---	capture		Silent	SNP	149700305	149700305	16017	6	C	T	T	T	301	24	TAB2	2	2
AKAP12	9590	broad.mit.edu	37	6	151670260	151670260	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151670260G>A	uc011eep.1	+	c.734G>A	c.(733-735)CGT>CAT	p.R245H	AKAP12_uc003qoe.2_Missense_Mutation_p.R245H|AKAP12_uc003qof.2_Missense_Mutation_p.R147H|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R140H	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	245					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		Melanoma(141;1616 1805 10049 24534 51979)				196				0.072993	-3.227237	22.435095	10	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151670260	151670260	451	6	G	A	A	A	520	40	AKAP12	1	1
C6orf211	79624	broad.mit.edu	37	6	151779592	151779592	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151779592G>A	uc003qok.1	+	c.277G>A	c.(277-279)GAA>AAA	p.E93K	C6orf211_uc011ees.1_5'UTR	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	93							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)										0.233333	16.808599	18.762691	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151779592	151779592	2459	6	G	A	A	A	429	33	C6orf211	2	2
SYNE1	23345	broad.mit.edu	37	6	152590421	152590421	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152590421C>G	uc010kiw.2	-	c.18574G>C	c.(18574-18576)GGA>CGA	p.G6192R	SYNE1_uc010kiv.2_Missense_Mutation_p.G716R|SYNE1_uc003qos.3_Missense_Mutation_p.G716R|SYNE1_uc003qot.3_Missense_Mutation_p.G6121R|SYNE1_uc003qou.3_Missense_Mutation_p.G6192R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6192	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.116883	9.230675	20.343001	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152590421	152590421	15966	6	C	G	G	G	286	22	SYNE1	3	3
IPCEF1	26034	broad.mit.edu	37	6	154568616	154568616	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:154568616G>A	uc003qpw.2	-	c.43C>T	c.(43-45)CCC>TCC	p.P15S	IPCEF1_uc003qpx.2_Missense_Mutation_p.P14S|IPCEF1_uc010kjh.2_Missense_Mutation_p.P15S	NM_001130699	NP_001124171	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	14					response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0														0.092896	6.111721	36.72086	17	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154568616	154568616	8092	6	G	A	A	A	533	41	IPCEF1	2	2
LPA	4018	broad.mit.edu	37	6	161011992	161011992	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161011992C>A	uc003qtl.2	-	c.3771G>T	c.(3769-3771)ACG>ACT	p.T1257T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3765	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.273973	53.772998	57.129872	20	53	KEEP	---	---	---	---	capture		Silent	SNP	161011992	161011992	9276	6	C	A	A	A	288	23	LPA	1	1
RPS6KA2	6196	broad.mit.edu	37	6	166923836	166923836	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:166923836C>A	uc003qvd.1	-	c.383G>T	c.(382-384)CGA>CTA	p.R128L	RPS6KA2_uc011ego.1_Missense_Mutation_p.R14L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R14L|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R103L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R111L|MIR1913_hsa-mir-1913|MI0008334_5'Flank	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	103	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)						997				0.105263	6.215148	15.036161	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166923836	166923836	14131	6	C	A	A	A	403	31	RPS6KA2	1	1
FGFR1OP	11116	broad.mit.edu	37	6	167446089	167446089	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167446089A>T	uc003qvj.2	+	c.989_splice	c.e11-2	p.G330_splice	CCR6_uc003qvl.2_Splice_Site_SNP|FGFR1OP_uc011egp.1_Splice_Site_SNP_p.G283_splice|FGFR1OP_uc003qvk.2_Splice_Site_SNP_p.G310_splice	NM_007045	NP_008976			FGFR1 oncogene partner isoform a						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity				0		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)						350				0.085714	1.399064	13.575432	6	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	167446089	167446089	6101	6	A	T	T	T	91	7	FGFR1OP	5	3
CCR6	1235	broad.mit.edu	37	6	167550021	167550021	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167550021C>G	uc003qvl.2	+	c.303C>G	c.(301-303)TTC>TTG	p.F101L	CCR6_uc010kkm.2_Missense_Mutation_p.F101L|CCR6_uc003qvn.3_Missense_Mutation_p.F101L|CCR6_uc003qvm.3_Missense_Mutation_p.F101L	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	101	Helical; Name=2; (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)						4				0.05618	-6.902474	11.527774	5	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167550021	167550021	3072	6	C	G	G	G	415	32	CCR6	3	3
GPR31	2853	broad.mit.edu	37	6	167570897	167570897	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167570897C>G	uc011egq.1	-	c.423G>C	c.(421-423)CTG>CTC	p.L141L		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	141	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)										0.112676	10.249256	20.7641	8	63	KEEP	---	---	---	---	capture		Silent	SNP	167570897	167570897	6962	6	C	G	G	G	366	29	GPR31	3	3
THBS2	7058	broad.mit.edu	37	6	169629765	169629765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169629765G>T	uc003qwt.2	-	c.2161C>A	c.(2161-2163)CCC>ACC	p.P721T		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	721	TSP type-3 1.				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)								0.25	23.193038	25.705964	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169629765	169629765	16382	6	G	T	T	T	559	43	THBS2	2	2
THBS2	7058	broad.mit.edu	37	6	169632128	169632128	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169632128A>T	uc003qwt.2	-	c.2098T>A	c.(2098-2100)TGG>AGG	p.W700R		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	700	TSP type-3 1.				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)								0.16	7.286533	10.036608	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169632128	169632128	16382	6	A	T	T	T	91	7	THBS2	3	3
CDKAL1	54901	broad.mit.edu	37	6	20781382	20781382	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:20781382C>T	uc003ndc.1	+	c.524C>T	c.(523-525)TCT>TTT	p.S175F	CDKAL1_uc003ndd.1_Missense_Mutation_p.S175F|CDKAL1_uc003nde.1_Missense_Mutation_p.S105F	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	175					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|catalytic activity|metal ion binding			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)											0.087379	3.190535	20.940033	9	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20781382	20781382	3281	6	C	T	T	T	416	32	CDKAL1	2	2
HIST1H3B	8358	broad.mit.edu	37	6	26031919	26031919	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26031919C>T	uc003nfs.1	-	c.370G>A	c.(370-372)GAC>AAC	p.D124N		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	124					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2														0.075949	-1.415405	13.147482	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26031919	26031919	7441	6	C	T	T	T	416	32	HIST1H3B	2	2
HIST1H1E	3008	broad.mit.edu	37	6	26157188	26157188	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26157188G>T	uc003ngq.2	+	c.570G>T	c.(568-570)AAG>AAT	p.K190N	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	190					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2														0.266667	9.792608	10.530748	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26157188	26157188	7411	6	G	T	T	T	451	35	HIST1H1E	2	2
HIST1H2BG	8339	broad.mit.edu	37	6	26216650	26216650	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26216650G>A	uc003ngz.2	-	c.222C>T	c.(220-222)ATC>ATT	p.I74I	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)												0.061905	-15.579097	26.455829	13	197	KEEP	---	---	---	---	capture		Silent	SNP	26216650	26216650	7431	6	G	A	A	A	473	37	HIST1H2BG	1	1
BTN2A1	11120	broad.mit.edu	37	6	26459904	26459904	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26459904G>A	uc003nib.1	+	c.278G>A	c.(277-279)CGA>CAA	p.R93Q	BTN2A1_uc003nic.1_Missense_Mutation_p.R93Q|BTN2A1_uc003nid.1_5'UTR|BTN2A1_uc011dko.1_Missense_Mutation_p.R32Q	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	93	Extracellular (Potential).|Ig-like V-type.				lipid metabolic process	integral to plasma membrane				ovary(1)	1														0.11828	13.394557	26.677412	11	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26459904	26459904	1594	6	G	A	A	A	481	37	BTN2A1	1	1
ZNF184	7738	broad.mit.edu	37	6	27425159	27425159	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27425159C>A	uc003njj.2	-	c.105G>T	c.(103-105)GTG>GTT	p.V35V	ZNF184_uc010jqv.2_Silent_p.V35V|ZNF184_uc003nji.2_Silent_p.V35V	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.190184	66.027813	80.658593	31	132	KEEP	---	---	---	---	capture		Silent	SNP	27425159	27425159	18342	6	C	A	A	A	262	21	ZNF184	2	2
OR12D3	81797	broad.mit.edu	37	6	29343004	29343004	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29343004G>A	uc003nme.2	-	c.61C>T	c.(61-63)CTG>TTG	p.L21L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3														0.291262	79.003637	83.027096	30	73	KEEP	---	---	---	---	capture		Silent	SNP	29343004	29343004	11338	6	G	A	A	A	438	34	OR12D3	2	2
HLA-A	3105	broad.mit.edu	37	6	29910337	29910337	+	Missense_Mutation	SNP	G	A	A	rs41541013		TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29910337G>A	uc003non.2	+	c.7G>A	c.(7-9)GTC>ATC	p.V3I	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003nol.2_Missense_Mutation_p.V3I|HLA-A_uc003noo.2_Missense_Mutation_p.V3I|HLA-A_uc010jrr.2_Missense_Mutation_p.V3I|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P04439	1A03_HUMAN	major histocompatibility complex, class I, A	3					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity|protein binding			ovary(1)	1											Multiple Myeloma(9;0.094)			0.137255	9.495484	15.986012	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29910337	29910337	7486	6	G	A	A	A	520	40	HLA-A	1	1
TRIM15	89870	broad.mit.edu	37	6	30131761	30131761	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30131761C>T	uc010jrx.2	+	c.300C>T	c.(298-300)TTC>TTT	p.F100F		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	100	B box-type.				mesodermal cell fate determination	intracellular	zinc ion binding				0														0.074074	-3.385846	11.690301	6	75	KEEP	---	---	---	---	capture		Silent	SNP	30131761	30131761	17034	6	C	T	T	T	389	30	TRIM15	2	2
HLA-E	3133	broad.mit.edu	37	6	30460194	30460194	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30460194G>C	uc003nqg.2	+	c.1017G>C	c.(1015-1017)GGG>GGC	p.G339G	HLA-E_uc011dmg.1_Non-coding_Transcript|HLA-E_uc011dmh.1_Silent_p.G380G	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	339	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5														0.043478	-14.534756	11.062493	5	110	KEEP	---	---	---	---	capture		Silent	SNP	30460194	30460194	7501	6	G	C	C	C	522	41	HLA-E	3	3
MDC1	9656	broad.mit.edu	37	6	30673605	30673605	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30673605G>T	uc003nrg.3	-	c.3355C>A	c.(3355-3357)CCA>ACA	p.P1119T	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P726T	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1119	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.052083	-33.685313	27.403536	15	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30673605	30673605	9792	6	G	T	T	T	533	41	MDC1	2	2
TUBB2A	7280	broad.mit.edu	37	6	3155153	3155153	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3155153C>G	uc003mvc.2	-	c.282G>C	c.(280-282)CAG>CAC	p.Q94H	TUBB2A_uc003mvb.2_Missense_Mutation_p.Q87H|TUBB2A_uc003mvd.2_Missense_Mutation_p.Q57H	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	94					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)												0.2	7.587554	9.263114	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3155153	3155153	17309	6	C	G	G	G	415	32	TUBB2A	3	3
BAT2	7916	broad.mit.edu	37	6	31598920	31598920	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31598920G>A	uc003nvb.3	+	c.2470G>A	c.(2470-2472)GAG>AAG	p.E824K	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E824K	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	824	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0														0.0625	-11.944706	23.097035	11	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31598920	31598920	1340	6	G	A	A	A	481	37	BAT2	1	1
NEU1	4758	broad.mit.edu	37	6	31829061	31829061	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31829061C>G	uc003nxq.3	-	c.519G>C	c.(517-519)TGG>TGC	p.W173C	NEU1_uc010jtg.2_Non-coding_Transcript|NEU1_uc003nxr.3_Non-coding_Transcript|NEU1_uc010jth.2_Missense_Mutation_p.W4C|NEU1_uc003nxs.3_Missense_Mutation_p.W173C	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	173	BNR 2.					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)									0.071429	-0.534	10.053119	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31829061	31829061	10740	6	C	G	G	G	390	30	NEU1	3	3
TNXB	7148	broad.mit.edu	37	6	32046820	32046820	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32046820C>T	uc003nzl.2	-	c.4365G>A	c.(4363-4365)GTG>GTA	p.V1455V		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1542					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.295455	35.461649	37.106339	13	31	KEEP	---	---	---	---	capture		Silent	SNP	32046820	32046820	16887	6	C	T	T	T	262	21	TNXB	2	2
HLA-DRA	3122	broad.mit.edu	37	6	32410341	32410341	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32410341G>A	uc003obh.2	+	c.199G>A	c.(199-201)GTC>ATC	p.V67I	HLA-DRA_uc003obi.2_Missense_Mutation_p.V67I	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	67	Extracellular (Potential).|Alpha-1.			V -> A (in Ref. 11; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)	1														0.180451	47.718711	60.492882	24	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32410341	32410341	7498	6	G	A	A	A	572	44	HLA-DRA	2	2
TAP2	6891	broad.mit.edu	37	6	32800459	32800459	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32800459C>A	uc011dqf.1	-	c.1088G>T	c.(1087-1089)CGG>CTG	p.R363L	TAP2_uc003ocb.1_Missense_Mutation_p.R363L|TAP2_uc003occ.2_Missense_Mutation_p.R363L|TAP2_uc003ocd.2_Missense_Mutation_p.R363L	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	363	Involved in peptide-binding site.|ABC transmembrane type-1.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0														0.126316	13.582002	26.675202	12	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32800459	32800459	16072	6	C	A	A	A	299	23	TAP2	1	1
COL11A2	1302	broad.mit.edu	37	6	33153523	33153523	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33153523G>C	uc003ocx.1	-	c.831C>G	c.(829-831)CCC>CCG	p.P277P	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	277	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(1)	4						Melanoma(1;90 116 3946 5341 17093)								0.173913	14.52413	19.101594	8	38	KEEP	---	---	---	---	capture		Silent	SNP	33153523	33153523	3806	6	G	C	C	C	548	43	COL11A2	3	3
DAXX	1616	broad.mit.edu	37	6	33289173	33289173	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33289173T>C	uc011dre.1	-	c.415A>G	c.(415-417)ATC>GTC	p.I139V	DAXX_uc011drd.1_Missense_Mutation_p.I52V|DAXX_uc003oec.2_Missense_Mutation_p.I127V|DAXX_uc003oed.2_Missense_Mutation_p.I127V|DAXX_uc010juw.2_Missense_Mutation_p.I52V	NM_001141970	NP_001135442	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform b	127	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)	22										125				0.290323	46.320456	48.76619	18	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33289173	33289173	4410	6	T	C	C	C	663	51	DAXX	4	4
KIFC1	3833	broad.mit.edu	37	6	33372891	33372891	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33372891G>T	uc003oef.3	+	c.1019G>T	c.(1018-1020)GGG>GTG	p.G340V	KIFC1_uc011drf.1_Missense_Mutation_p.G332V	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	340	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0														0.168142	33.497794	45.175082	19	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33372891	33372891	8623	6	G	T	T	T	559	43	KIFC1	2	2
SYNGAP1	8831	broad.mit.edu	37	6	33410885	33410885	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33410885T>A	uc011dri.1	+	c.2556T>A	c.(2554-2556)GGT>GGA	p.G852G	SYNGAP1_uc010juy.2_Silent_p.G823G|SYNGAP1_uc010juz.2_Silent_p.G564G	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	852					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.222222	49.951975	57.63201	24	84	KEEP	---	---	---	---	capture		Silent	SNP	33410885	33410885	15968	6	T	A	A	A	756	59	SYNGAP1	3	3
SYNGAP1	8831	broad.mit.edu	37	6	33411147	33411147	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33411147G>C	uc011dri.1	+	c.2818G>C	c.(2818-2820)GGT>CGT	p.G940R	SYNGAP1_uc010juy.2_Missense_Mutation_p.G911R|SYNGAP1_uc010juz.2_Missense_Mutation_p.G652R	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	940					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4														0.063241	-26.72136	23.564719	16	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33411147	33411147	15968	6	G	C	C	C	455	35	SYNGAP1	3	3
UHRF1BP1	54887	broad.mit.edu	37	6	34802578	34802578	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34802578C>A	uc003oju.3	+	c.609C>A	c.(607-609)GTC>GTA	p.V203V	UHRF1BP1_uc010jvm.1_Non-coding_Transcript|UHRF1BP1_uc010jvn.2_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	203										ovary(3)	3														0.09375	4.603241	20.529161	9	87	KEEP	---	---	---	---	capture		Silent	SNP	34802578	34802578	17526	6	C	A	A	A	366	29	UHRF1BP1	2	2
PPIL1	51645	broad.mit.edu	37	6	36824376	36824376	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36824376T>A	uc003omu.2	-	c.266A>T	c.(265-267)GAC>GTC	p.D89V		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	89	PPIase cyclophilin-type.				nuclear mRNA splicing, via spliceosome|protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1														0.178082	25.632937	32.754365	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36824376	36824376	12761	6	T	A	A	A	754	58	PPIL1	3	3
ZFAND3	60685	broad.mit.edu	37	6	38084406	38084406	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38084406G>A	uc003onx.2	+	c.420G>A	c.(418-420)ACG>ACA	p.T140T		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	140							DNA binding|zinc ion binding			ovary(1)	1														0.078313	0.363404	30.51365	13	153	KEEP	---	---	---	---	capture		Silent	SNP	38084406	38084406	18217	6	G	A	A	A	496	39	ZFAND3	1	1
DNAH8	1769	broad.mit.edu	37	6	38746218	38746218	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38746218C>A	uc003ooe.1	+	c.1366C>A	c.(1366-1368)CAG>AAG	p.Q456K		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	456					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.177966	42.203522	53.726477	21	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38746218	38746218	4790	6	C	A	A	A	325	25	DNAH8	2	2
LRFN2	57497	broad.mit.edu	37	6	40359729	40359729	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40359729G>A	uc003oph.1	-	c.2323C>T	c.(2323-2325)CGG>TGG	p.R775W		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	775	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.097222	5.776131	17.38181	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40359729	40359729	9311	6	G	A	A	A	506	39	LRFN2	1	1
LRFN2	57497	broad.mit.edu	37	6	40400140	40400140	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:40400140C>G	uc003oph.1	-	c.713G>C	c.(712-714)AGT>ACT	p.S238T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	238	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.222222	10.290099	11.567884	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40400140	40400140	9311	6	C	G	G	G	260	20	LRFN2	3	3
CUL7	9820	broad.mit.edu	37	6	43019092	43019092	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43019092C>T	uc011dvb.1	-	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CUL7_uc003otq.2_Missense_Mutation_p.E283K|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	283					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.063063	-8.870519	13.212455	7	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43019092	43019092	4220	6	C	T	T	T	377	29	CUL7	2	2
CUL9	23113	broad.mit.edu	37	6	43190077	43190077	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43190077G>C	uc003ouk.2	+	c.6870G>C	c.(6868-6870)GAG>GAC	p.E2290D	CUL9_uc003oul.2_Missense_Mutation_p.E2262D|CUL9_uc010jyk.2_Missense_Mutation_p.E1442D|CUL9_uc003oun.2_Missense_Mutation_p.E85D	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2290					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.293103	153.255456	159.92335	51	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43190077	43190077	4221	6	G	C	C	C	425	33	CUL9	3	3
CDC5L	988	broad.mit.edu	37	6	44360513	44360513	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44360513C>G	uc003oxl.2	+	c.259C>G	c.(259-261)CCA>GCA	p.P87A		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	87	H-T-H motif (By similarity).|HTH myb-type 2.				cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)	5	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)							515				0.05	-8.462242	8.718118	4	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44360513	44360513	3211	6	C	G	G	G	390	30	CDC5L	3	3
RCAN2	10231	broad.mit.edu	37	6	46214582	46214582	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46214582C>A	uc003oyb.1	-	c.336G>T	c.(334-336)TCG>TCT	p.S112S	RCAN2_uc003oyc.1_Silent_p.S158S|RCAN2_uc003oyd.1_Silent_p.S158S	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	112					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0														0.076923	-0.635609	8.888137	4	48	KEEP	---	---	---	---	capture		Silent	SNP	46214582	46214582	13638	6	C	A	A	A	340	27	RCAN2	1	1
TDRD6	221400	broad.mit.edu	37	6	46659518	46659518	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46659518A>T	uc003oyj.2	+	c.3653A>T	c.(3652-3654)AAC>ATC	p.N1218I	TDRD6_uc010jze.2_Missense_Mutation_p.N1212I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1218					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5			Lung(136;0.192)											0.447761	91.043113	91.202109	30	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46659518	46659518	16261	6	A	T	T	T	26	2	TDRD6	3	3
C6orf138	442213	broad.mit.edu	37	6	47846857	47846857	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846857G>A	uc011dwm.1	-	c.1672C>T	c.(1672-1674)CTG>TTG	p.L558L	C6orf138_uc011dwn.1_Silent_p.L322L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	575						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.347826	46.989536	47.928121	16	30	KEEP	---	---	---	---	capture		Silent	SNP	47846857	47846857	2435	6	G	A	A	A	451	35	C6orf138	2	2
PGK2	5232	broad.mit.edu	37	6	49754364	49754364	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754364C>T	uc003ozu.2	-	c.537G>A	c.(535-537)GTG>GTA	p.V179V		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	179					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.068493	-3.750974	10.276994	5	68	KEEP	---	---	---	---	capture		Silent	SNP	49754364	49754364	12214	6	C	T	T	T	366	29	PGK2	2	2
PKHD1	5314	broad.mit.edu	37	6	51484224	51484224	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:51484224G>T	uc003pah.1	-	c.11880C>A	c.(11878-11880)GTC>GTA	p.V3960V		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3960	Cytoplasmic (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			ovary(12)|large_intestine(5)|central_nervous_system(3)	20	Lung NSC(77;0.0605)									1537				0.414634	95.631854	96.154325	34	48	KEEP	---	---	---	---	capture		Silent	SNP	51484224	51484224	12396	6	G	T	T	T	522	41	PKHD1	2	2
GCM1	8521	broad.mit.edu	37	6	52993488	52993488	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52993488C>A	uc003pbp.2	-	c.827G>T	c.(826-828)AGT>ATT	p.S276I		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	276					regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)													0.104167	4.740799	12.22301	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52993488	52993488	6563	6	C	A	A	A	260	20	GCM1	2	2
TINAG	27283	broad.mit.edu	37	6	54173469	54173469	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54173469G>T	uc003pcj.2	+	c.121G>T	c.(121-123)GTT>TTT	p.V41F	TINAG_uc003pci.2_Missense_Mutation_p.V41F|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	41					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.368132	409.531282	415.063295	134	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54173469	54173469	16450	6	G	T	T	T	520	40	TINAG	1	1
GFRAL	389400	broad.mit.edu	37	6	55216120	55216120	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55216120A>T	uc003pcm.1	+	c.440A>T	c.(439-441)CAG>CTG	p.Q147L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	147	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.128713	56.565132	97.211764	39	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55216120	55216120	6619	6	A	T	T	T	91	7	GFRAL	3	3
KHDRBS2	202559	broad.mit.edu	37	6	62604682	62604682	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62604682G>T	uc003peg.2	-	c.668C>A	c.(667-669)CCT>CAT	p.P223H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	223	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.105263	0.523903	6.569198	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62604682	62604682	8453	6	G	T	T	T	455	35	KHDRBS2	2	2
COL19A1	1310	broad.mit.edu	37	6	70745820	70745820	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70745820C>A	uc003pfc.1	+	c.1159C>A	c.(1159-1161)CCA>ACA	p.P387T	COL19A1_uc010kam.1_Missense_Mutation_p.P283T	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	387	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.212121	16.507346	19.035035	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70745820	70745820	3814	6	C	A	A	A	234	18	COL19A1	2	2
COL19A1	1310	broad.mit.edu	37	6	70866084	70866084	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70866084T>A	uc003pfc.1	+	c.2145T>A	c.(2143-2145)GGT>GGA	p.G715G	COL19A1_uc010kam.1_Silent_p.G611G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	715	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.192308	9.863927	12.160796	5	21	KEEP	---	---	---	---	capture		Silent	SNP	70866084	70866084	3814	6	T	A	A	A	756	59	COL19A1	3	3
RIMS1	22999	broad.mit.edu	37	6	72960917	72960917	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72960917G>T	uc003pga.2	+	c.2545_splice	c.e15-1	p.I849_splice	RIMS1_uc011dyb.1_Splice_Site_SNP_p.I475_splice|RIMS1_uc003pgc.2_Splice_Site_SNP_p.I475_splice|RIMS1_uc010kaq.2_Splice_Site_SNP_p.I323_splice|RIMS1_uc011dyc.1_Splice_Site_SNP_p.I323_splice|RIMS1_uc010kar.2_Splice_Site_SNP_p.I242_splice|RIMS1_uc011dyd.1_Splice_Site_SNP_p.I308_splice|RIMS1_uc003pgf.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc003pgg.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc003pgi.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc003pgh.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc003pgd.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc003pge.2_Splice_Site_SNP_p.I66_splice|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Splice_Site_SNP_p.I475_splice|RIMS1_uc010kas.1_Splice_Site_SNP_p.I308_splice	NM_014989	NP_055804			regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.173913	7.484726	9.794341	4	19	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	72960917	72960917	13844	6	G	T	T	T	429	33	RIMS1	5	2
RIMS1	22999	broad.mit.edu	37	6	73110206	73110206	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73110206C>T	uc003pga.2	+	c.4869C>T	c.(4867-4869)GTC>GTT	p.V1623V	RIMS1_uc011dyb.1_Silent_p.V1020V|RIMS1_uc003pgc.2_Silent_p.V1038V|RIMS1_uc010kaq.2_Silent_p.V943V|RIMS1_uc011dyc.1_Silent_p.V748V|RIMS1_uc010kar.2_Silent_p.V691V|RIMS1_uc011dyd.1_Silent_p.V757V|RIMS1_uc003pgf.2_Silent_p.V623V|RIMS1_uc003pgg.2_Silent_p.V519V|RIMS1_uc003pgi.2_Silent_p.V439V|RIMS1_uc003pgh.2_Silent_p.V490V|RIMS1_uc003pgd.2_Silent_p.V689V|RIMS1_uc003pge.2_Silent_p.V663V|RIMS1_uc011dye.1_Silent_p.V429V|RIMS1_uc011dyf.1_Silent_p.V247V|RIMS1_uc011dyg.1_Silent_p.V150V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1623	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.248062	79.432623	86.885189	32	97	KEEP	---	---	---	---	capture		Silent	SNP	73110206	73110206	13844	6	C	T	T	T	405	32	RIMS1	2	2
DSP	1832	broad.mit.edu	37	6	7586071	7586071	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7586071C>G	uc003mxp.1	+	c.8576C>G	c.(8575-8577)TCT>TGT	p.S2859C	DSP_uc003mxq.1_Missense_Mutation_p.S2260C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2859	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)										0.078947	1.310485	21.930734	9	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7586071	7586071	4965	6	C	G	G	G	416	32	DSP	3	3
COL12A1	1303	broad.mit.edu	37	6	75860867	75860867	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75860867G>C	uc003phs.2	-	c.4137C>G	c.(4135-4137)GTC>GTG	p.V1379V	COL12A1_uc003pht.2_Silent_p.V215V	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1379					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.067568	-1.988236	12.340451	5	69	KEEP	---	---	---	---	capture		Silent	SNP	75860867	75860867	3807	6	G	C	C	C	574	45	COL12A1	3	3
IMPG1	3617	broad.mit.edu	37	6	76715146	76715146	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76715146T>A	uc003pik.1	-	c.993A>T	c.(991-993)GAA>GAT	p.E331D		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	331	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.144928	12.803466	21.179098	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76715146	76715146	8029	6	T	A	A	A	829	64	IMPG1	3	3
IMPG1	3617	broad.mit.edu	37	6	76731841	76731841	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76731841G>C	uc003pik.1	-	c.658C>G	c.(658-660)CCT>GCT	p.P220A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	220					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.238095	13.764068	15.080046	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76731841	76731841	8029	6	G	C	C	C	546	42	IMPG1	3	3
FAM46A	55603	broad.mit.edu	37	6	82459798	82459798	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:82459798G>C	uc003pjf.2	-	c.1000C>G	c.(1000-1002)CAA>GAA	p.Q334E	FAM46A_uc003pjg.2_Missense_Mutation_p.Q315E	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	315											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)										0.075	0.292487	7.704945	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82459798	82459798	5786	6	G	C	C	C	585	45	FAM46A	3	3
KIAA1009	22832	broad.mit.edu	37	6	84865201	84865201	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84865201C>G	uc010kbp.2	-	c.2810G>C	c.(2809-2811)AGA>ACA	p.R937T	KIAA1009_uc003pkj.3_Missense_Mutation_p.R861T|KIAA1009_uc003pki.3_Missense_Mutation_p.R323T	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	937	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)										0.109756	11.035049	23.377728	9	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84865201	84865201	8510	6	C	G	G	G	416	32	KIAA1009	3	3
HTR1E	3354	broad.mit.edu	37	6	87725673	87725673	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87725673C>T	uc003pli.2	+	c.621C>T	c.(619-621)CAC>CAT	p.H207H		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	207	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)									0.24812	76.914709	84.591285	33	100	KEEP	---	---	---	---	capture		Silent	SNP	87725673	87725673	7739	6	C	T	T	T	246	19	HTR1E	1	1
RRAGD	58528	broad.mit.edu	37	6	90077868	90077868	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90077868C>G	uc003pnd.3	-	c.1110G>C	c.(1108-1110)GTG>GTC	p.V370V	RRAGD_uc010kcc.2_Silent_p.V219V	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	370					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)								OREG0017566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.060976	-5.185175	11.317128	5	77	KEEP	---	---	---	---	capture		Silent	SNP	90077868	90077868	14155	6	C	G	G	G	366	29	RRAGD	3	3
MDN1	23195	broad.mit.edu	37	6	90398396	90398396	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90398396G>T	uc003pnn.1	-	c.11155C>A	c.(11155-11157)CCC>ACC	p.P3719T		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3719					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.142857	5.280479	8.724228	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90398396	90398396	9804	6	G	T	T	T	533	41	MDN1	2	2
SLC26A5	375611	broad.mit.edu	37	7	103014987	103014987	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103014987T>C	uc003vbz.2	-	c.2094A>G	c.(2092-2094)CTA>CTG	p.L698L	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Non-coding_Transcript|SLC26A5_uc003vbx.2_Silent_p.L666L|SLC26A5_uc003vby.2_Non-coding_Transcript|SLC26A5_uc010liy.2_Non-coding_Transcript	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	698	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	motor activity|secondary active sulfate transmembrane transporter activity			ovary(1)	1														0.192308	34.779841	41.68199	15	63	KEEP	---	---	---	---	capture		Silent	SNP	103014987	103014987	15017	7	T	C	C	C	626	49	SLC26A5	4	4
SLC26A4	5172	broad.mit.edu	37	7	107352992	107352992	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107352992C>T	uc003vep.2	+	c.2244C>T	c.(2242-2244)CTC>CTT	p.L748L	SLC26A4_uc011kmb.1_Silent_p.L335L|SLC26A4_uc011kmc.1_Silent_p.L309L|SLC26A4_uc011kmd.1_Silent_p.L317L	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	748	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.111111	4.182896	9.55777	4	32	KEEP	---	---	---	---	capture		Silent	SNP	107352992	107352992	15016	7	C	T	T	T	366	29	SLC26A4	2	2
CTTNBP2	83992	broad.mit.edu	37	7	117432049	117432049	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117432049G>T	uc003vjf.2	-	c.1201C>A	c.(1201-1203)CTT>ATT	p.L401I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	401	Pro-rich.									ovary(4)	4	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)										0.061404	-8.263619	14.621772	7	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117432049	117432049	4204	7	G	T	T	T	468	36	CTTNBP2	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121674344	121674344	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121674344G>A	uc003vjy.2	+	c.5196G>A	c.(5194-5196)CAG>CAA	p.Q1732Q	PTPRZ1_uc003vjz.2_Silent_p.Q865Q|PTPRZ1_uc011knt.1_Silent_p.Q322Q	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1732	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.23913	27.806997	30.661955	11	35	KEEP	---	---	---	---	capture		Silent	SNP	121674344	121674344	13272	7	G	A	A	A	425	33	PTPRZ1	2	2
TAS2R16	50833	broad.mit.edu	37	7	122635169	122635169	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635169G>T	uc003vkl.1	-	c.520C>A	c.(520-522)CAT>AAT	p.H174N		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	174	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.107527	8.379166	22.591978	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635169	122635169	16091	7	G	T	T	T	585	45	TAS2R16	2	2
GRM8	2918	broad.mit.edu	37	7	126086315	126086315	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126086315T>A	uc003vlr.2	-	c.2542A>T	c.(2542-2544)AAT>TAT	p.N848Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.N848Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	848	Cytoplasmic (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				ovary(5)|pancreas(1)	6		Prostate(267;0.186)			L-Glutamic Acid(DB00142)									0.085106	0.527463	16.942382	8	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126086315	126086315	7082	7	T	A	A	A	806	62	GRM8	3	3
PAX4	5078	broad.mit.edu	37	7	127253140	127253140	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127253140C>G	uc010lld.1	-	c.627G>C	c.(625-627)TGG>TGC	p.W209C	PAX4_uc003vmf.2_Missense_Mutation_p.W207C|PAX4_uc003vmg.1_Missense_Mutation_p.W209C|PAX4_uc003vmh.2_Missense_Mutation_p.W207C	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	217	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.088889	1.967952	9.64897	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127253140	127253140	11901	7	C	G	G	G	234	18	PAX4	3	3
FLNC	2318	broad.mit.edu	37	7	128490893	128490895	+	Missense	Complex_substitution	CNA	ANC	ANC			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128490893C>A	uc003vnz.3	+	c.5435C>A	c.(5434-5436)CCC>CAC	p.P1812H	FLNC_uc003voa.3_Missense_Mutation_p.P1779H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1812	Filamin 16.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.103448	4.216707	13.291276	6	52	KEEP	---	---	---	---	capture		Missense	Complex_substitution	128490893	128490895	6177	7	CNA	ANC	ANC	A	286	22	FLNC	5	5
FAM40B	57464	broad.mit.edu	37	7	129096471	129096471	+	Silent	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129096471T>A	uc011koy.1	+	c.1026T>A	c.(1024-1026)CGT>CGA	p.R342R	FAM40B_uc003vow.2_Silent_p.R342R|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	342											0														0.266667	9.695455	10.431866	4	11	KEEP	---	---	---	---	capture		Silent	SNP	129096471	129096471	5782	7	T	A	A	A	756	59	FAM40B	3	3
PODXL	5420	broad.mit.edu	37	7	131191400	131191400	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131191400C>T	uc003vqw.3	-	c.1187G>A	c.(1186-1188)GGC>GAC	p.G396D	PODXL_uc003vqx.3_Missense_Mutation_p.G364D	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	396	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.186441	21.491062	26.926709	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131191400	131191400	12608	7	C	T	T	T	338	26	PODXL	2	2
SVOPL	136306	broad.mit.edu	37	7	138281194	138281194	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138281194G>C	uc011kqh.1	-	c.1435C>G	c.(1435-1437)CTC>GTC	p.L479V	SVOPL_uc003vue.2_Missense_Mutation_p.L327V	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	479					transmembrane transport	integral to membrane	transporter activity				0														0.088889	1.080694	8.751367	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138281194	138281194	15944	7	G	C	C	C	429	33	SVOPL	3	3
KIAA1549	57670	broad.mit.edu	37	7	138522652	138522652	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138522652C>T	uc011kql.1	-	c.5852G>A	c.(5851-5853)TGA>TAA	p.*1951*	KIAA1549_uc011kqi.1_Silent_p.*719*|KIAA1549_uc003vuk.3_Silent_p.*1885*|KIAA1549_uc011kqj.1_Silent_p.*1935*|KIAA1549_uc011kqk.1_Silent_p.*735*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1951						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.25	7.519017	8.20091	3	9	KEEP	---	---	---	---	capture		Silent	SNP	138522652	138522652	8553	7	C	T	T	T	376	29	KIAA1549	2	2
OR6V1	346517	broad.mit.edu	37	7	142749742	142749742	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142749742A>T	uc011ksv.1	+	c.305A>T	c.(304-306)CAC>CTC	p.H102L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.271318	82.55934	88.65374	35	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142749742	142749742	11622	7	A	T	T	T	78	6	OR6V1	3	3
CLCN1	1180	broad.mit.edu	37	7	143018849	143018849	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143018849G>T	uc003wcr.1	+	c.604G>T	c.(604-606)GTC>TTC	p.V202F	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.V50F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	202					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.213333	37.85778	43.552799	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143018849	143018849	3598	7	G	T	T	T	624	48	CLCN1	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147600733	147600733	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147600733C>A	uc003weu.1	+	c.2175C>A	c.(2173-2175)ATC>ATA	p.I725I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	725	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.217391	10.863588	12.556808	5	18	KEEP	---	---	---	---	capture		Silent	SNP	147600733	147600733	3785	7	C	A	A	A	382	30	CNTNAP2	2	2
PTPRN2	5799	broad.mit.edu	37	7	157959951	157959951	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157959951G>T	uc011kwa.1	-	c.651C>A	c.(649-651)ACC>ACA	p.T217T	PTPRN2_uc003wno.2_Silent_p.T194T|PTPRN2_uc003wnp.2_Silent_p.T177T|PTPRN2_uc003wnq.2_Silent_p.T194T|PTPRN2_uc003wnr.2_Silent_p.T156T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	194	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.075472	-1.436339	8.356567	4	49	KEEP	---	---	---	---	capture		Silent	SNP	157959951	157959951	13265	7	G	T	T	T	444	35	PTPRN2	2	2
STK31	56164	broad.mit.edu	37	7	23811831	23811831	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23811831G>A	uc003sws.3	+	c.1899G>A	c.(1897-1899)AAG>AAA	p.K633K	STK31_uc003swt.3_Silent_p.K610K|STK31_uc011jze.1_Silent_p.K633K|STK31_uc010kuq.2_Silent_p.K610K	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	633					protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.0625	-2.416205	7.159387	3	45	KEEP	---	---	---	---	capture		Silent	SNP	23811831	23811831	15816	7	G	A	A	A	425	33	STK31	2	2
OSBPL3	26031	broad.mit.edu	37	7	24901333	24901333	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:24901333G>T	uc003sxf.2	-	c.926C>A	c.(925-927)TCA>TAA	p.S309*	OSBPL3_uc003sxd.2_Non-coding_Transcript|OSBPL3_uc003sxe.2_Non-coding_Transcript|OSBPL3_uc003sxg.2_Nonsense_Mutation_p.S309*|OSBPL3_uc003sxh.2_Nonsense_Mutation_p.S278*|OSBPL3_uc003sxi.2_Nonsense_Mutation_p.S278*|OSBPL3_uc003sxj.1_Nonsense_Mutation_p.S74*|OSBPL3_uc003sxk.1_Nonsense_Mutation_p.S43*	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	309					lipid transport		lipid binding|protein binding			skin(1)	1														0.082645	0.350916	21.798373	10	111	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24901333	24901333	11690	7	G	T	T	T	585	45	OSBPL3	5	2
FAM188B	84182	broad.mit.edu	37	7	30915196	30915196	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30915196C>T	uc003tbt.2	+	c.1896C>T	c.(1894-1896)ATC>ATT	p.I632I	FAM188B_uc010kwe.2_Silent_p.I603I|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Silent_p.I152I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	632				I -> F (in Ref. 1; AAQ10898).							0														0.145907	59.3961	93.276785	41	240	KEEP	---	---	---	---	capture		Silent	SNP	30915196	30915196	5725	7	C	T	T	T	369	29	FAM188B	2	2
ADCYAP1R1	117	broad.mit.edu	37	7	31126081	31126081	+	Silent	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31126081C>G	uc003tcc.1	+	c.753C>G	c.(751-753)CTC>CTG	p.L251L	ADCYAP1R1_uc003tca.1_Silent_p.L251L|ADCYAP1R1_uc003tcb.1_Silent_p.L230L|ADCYAP1R1_uc003tcd.1_Silent_p.L251L|ADCYAP1R1_uc003tce.1_Silent_p.L251L|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	251	Helical; Name=3; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						Ovarian(44;225 1186 2158 11092)								0.037037	-20.202977	11.104592	5	130	KEEP	---	---	---	---	capture		Silent	SNP	31126081	31126081	304	7	C	G	G	G	405	32	ADCYAP1R1	3	3
NPSR1	387129	broad.mit.edu	37	7	34851459	34851459	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34851459G>T	uc003teh.1	+	c.462G>T	c.(460-462)ATG>ATT	p.M154I	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.M154I|NPSR1_uc010kwt.1_Missense_Mutation_p.M1I|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.M154I|NPSR1_uc010kww.1_Missense_Mutation_p.M143I|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	154	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			pancreas(1)|skin(1)	2					Halothane(DB01159)									0.07971	-2.581887	22.297138	11	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34851459	34851459	11005	7	G	T	T	T	585	45	NPSR1	2	2
UBE2D4	51619	broad.mit.edu	37	7	43988301	43988301	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43988301G>A	uc003tja.1	+	c.269G>A	c.(268-270)CGG>CAG	p.R90Q	POLR2J4_uc003tjc.2_Intron|UBE2D4_uc003tjb.1_Missense_Mutation_p.R52Q	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	90					post-translational protein modification|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0						Esophageal Squamous(27;401 815 16344 30604)								0.068627	-3.944691	15.669536	7	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43988301	43988301	17408	7	G	A	A	A	507	39	UBE2D4	1	1
NPC1L1	29881	broad.mit.edu	37	7	44556830	44556830	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44556830G>T	uc003tlb.2	-	c.3344C>A	c.(3343-3345)CCG>CAG	p.P1115Q	NPC1L1_uc003tlc.2_Missense_Mutation_p.P1088Q|NPC1L1_uc011kbw.1_Missense_Mutation_p.P1042Q|NPC1L1_uc003tla.2_Missense_Mutation_p.P91Q	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1115	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.185393	67.991437	84.495249	33	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44556830	44556830	10975	7	G	T	T	T	507	39	NPC1L1	1	1
ZMIZ2	83637	broad.mit.edu	37	7	44800031	44800031	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44800031G>T	uc003tlr.2	+	c.1079G>T	c.(1078-1080)CGT>CTT	p.R360L	ZMIZ2_uc003tlq.2_Missense_Mutation_p.R302L|ZMIZ2_uc003tls.2_Missense_Mutation_p.R334L|ZMIZ2_uc003tlt.2_5'UTR|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	360	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.25	17.565711	19.404519	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44800031	44800031	18288	7	G	T	T	T	520	40	ZMIZ2	1	1
PKD1L1	168507	broad.mit.edu	37	7	47944214	47944214	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47944214C>A	uc003tny.1	-	c.1692G>T	c.(1690-1692)TGG>TGT	p.W564C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	564	Extracellular (Potential).|PKD 1.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.40625	35.96782	36.21378	13	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47944214	47944214	12388	7	C	A	A	A	234	18	PKD1L1	2	2
ABCA13	154664	broad.mit.edu	37	7	48313368	48313368	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48313368C>G	uc003toq.2	+	c.4105C>G	c.(4105-4107)CAG>GAG	p.Q1369E	ABCA13_uc010kyr.2_Missense_Mutation_p.Q872E	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1369					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.28	21.617232	22.703234	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48313368	48313368	32	7	C	G	G	G	221	17	ABCA13	3	3
VWC2	375567	broad.mit.edu	37	7	49842351	49842351	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:49842351G>C	uc003tot.1	+	c.741G>C	c.(739-741)GTG>GTC	p.V247V		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	247	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0														0.092105	4.112789	16.803526	7	69	KEEP	---	---	---	---	capture		Silent	SNP	49842351	49842351	17814	7	G	C	C	C	587	46	VWC2	3	3
EGFR	1956	broad.mit.edu	37	7	55241714	55241714	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55241714G>T	uc003tqk.2	+	c.2162G>T	c.(2161-2163)GGT>GTT	p.G721V	EGFR_uc010kzg.1_Missense_Mutation_p.G676V|EGFR_uc011kco.1_Missense_Mutation_p.G668V	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	721	Cytoplasmic (Potential).|ATP (By similarity).|Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G721A(2)|p.G721D(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.192308	11.162134	13.459147	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55241714	55241714	5156	7	G	T	T	T	572	44	EGFR	2	2
PSPH	5723	broad.mit.edu	37	7	56088770	56088770	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:56088770C>G	uc003trj.2	-	c.223G>C	c.(223-225)GAA>CAA	p.E75Q	PSPH_uc003trg.2_Missense_Mutation_p.E46Q|PSPH_uc003trh.2_Missense_Mutation_p.E46Q|PSPH_uc003tri.2_Missense_Mutation_p.E46Q	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	46					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.17094	46.430528	58.405668	20	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56088770	56088770	13171	7	C	G	G	G	416	32	PSPH	3	3
GUSB	2990	broad.mit.edu	37	7	65425966	65425966	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:65425966C>G	uc003tun.2	-	c.1874G>C	c.(1873-1875)AGA>ACA	p.R625T	GUSB_uc011kdt.1_Missense_Mutation_p.R479T	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	625					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0														0.094937	10.825509	36.836958	15	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65425966	65425966	7182	7	C	G	G	G	416	32	GUSB	3	3
ZNF12	7559	broad.mit.edu	37	7	6732239	6732239	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6732239C>T	uc003sqt.1	-	c.334G>A	c.(334-336)GAG>AAG	p.E112K	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.E112K	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)										0.19209	75.542226	91.220342	34	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6732239	6732239	18309	7	C	T	T	T	416	32	ZNF12	2	2
MLXIPL	51085	broad.mit.edu	37	7	73010570	73010570	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73010570C>T	uc003tyn.1	-	c.1971G>A	c.(1969-1971)GCG>GCA	p.A657A	MLXIPL_uc003tyj.1_Silent_p.A36A|MLXIPL_uc003tyk.1_Silent_p.A655A|MLXIPL_uc003tyl.1_Silent_p.A655A|MLXIPL_uc003tym.1_Silent_p.A657A|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.A563A	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	657	Basic motif.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.1875	13.03658	15.958774	6	26	KEEP	---	---	---	---	capture		Silent	SNP	73010570	73010570	10027	7	C	T	T	T	288	23	MLXIPL	1	1
WBSCR27	155368	broad.mit.edu	37	7	73249273	73249273	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73249273G>C	uc003tzj.2	-	c.538C>G	c.(538-540)CTG>GTG	p.L180V	RFC2_uc011kfa.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	180							methyltransferase activity			central_nervous_system(1)	1		Lung NSC(55;0.159)												0.307692	12.395224	12.823725	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73249273	73249273	17838	7	G	C	C	C	425	33	WBSCR27	3	3
CCDC146	57639	broad.mit.edu	37	7	76916146	76916146	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:76916146T>A	uc003uga.2	+	c.2180T>A	c.(2179-2181)CTG>CAG	p.L727Q	CCDC146_uc010ldp.2_Missense_Mutation_p.L441Q|CCDC146_uc003ugc.2_Missense_Mutation_p.L64Q	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	727	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)												0.07	-2.457182	16.628539	7	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76916146	76916146	2900	7	T	A	A	A	715	55	CCDC146	3	3
HGF	3082	broad.mit.edu	37	7	81355253	81355253	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81355253A>T	uc003uhl.2	-	c.1121T>A	c.(1120-1122)GTT>GAT	p.V374D	HGF_uc003uhm.2_Missense_Mutation_p.V369D	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	374	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.068493	-4.184859	9.878553	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81355253	81355253	7369	7	A	T	T	T	26	2	HGF	3	3
SEMA3A	10371	broad.mit.edu	37	7	83739785	83739785	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83739785C>A	uc003uhz.2	-	c.453_splice	c.e4+1	p.E151_splice		NM_006080	NP_006071			semaphorin 3A precursor						axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.134615	11.389344	18.120145	7	45	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	83739785	83739785	14510	7	C	A	A	A	234	18	SEMA3A	5	2
SEMA3D	223117	broad.mit.edu	37	7	84702318	84702318	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84702318T>G	uc003uic.2	-	c.455A>C	c.(454-456)CAT>CCT	p.H152P	SEMA3D_uc010led.2_Missense_Mutation_p.H152P|SEMA3D_uc010lee.1_Missense_Mutation_p.H152P	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	152	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.125	6.678087	11.073348	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84702318	84702318	14513	7	T	G	G	G	663	51	SEMA3D	4	4
ADAM22	53616	broad.mit.edu	37	7	87780627	87780627	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87780627G>A	uc003ujp.1	+	c.1829G>A	c.(1828-1830)TGG>TAG	p.W610*	ADAM22_uc003ujk.1_Nonsense_Mutation_p.W558*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.W558*|ADAM22_uc003ujn.2_Nonsense_Mutation_p.W558*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.W558*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.W558*	NM_004194	NP_004185	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 4	558	Cys-rich.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)							704				0.0625	-3.453458	9.313007	4	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87780627	87780627	245	7	G	A	A	A	611	47	ADAM22	5	2
ZNF804B	219578	broad.mit.edu	37	7	88964538	88964538	+	Missense_Mutation	SNP	C	A	A	rs115159731	by1000genomes	TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88964538C>A	uc011khi.1	+	c.2242C>A	c.(2242-2244)CAC>AAC	p.H748N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	748						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.134615	11.394685	18.120798	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88964538	88964538	18769	7	C	A	A	A	273	21	ZNF804B	2	2
SAMD9L	219285	broad.mit.edu	37	7	92763106	92763106	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92763106C>T	uc003umh.1	-	c.2179G>A	c.(2179-2181)GAG>AAG	p.E727K	SAMD9L_uc003umj.1_Missense_Mutation_p.E727K|SAMD9L_uc003umi.1_Missense_Mutation_p.E727K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E727K|SAMD9L_uc003umk.1_Missense_Mutation_p.E727K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E727K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E727K|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	727										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)											0.072727	-3.839105	27.160255	12	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92763106	92763106	14307	7	C	T	T	T	416	32	SAMD9L	2	2
GNG11	2791	broad.mit.edu	37	7	93555431	93555431	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93555431A>T	uc003und.2	+	c.125A>T	c.(124-126)AAC>ATC	p.N42I		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	42					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)											0.12069	8.283598	16.466341	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93555431	93555431	6793	7	A	T	T	T	26	2	GNG11	3	3
COL1A2	1278	broad.mit.edu	37	7	94041433	94041433	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94041433C>A	uc003ung.1	+	c.1404C>A	c.(1402-1404)GTC>GTA	p.V468V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	468					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging			central_nervous_system(3)|ovary(2)	5	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)									0.210526	9.691553	11.16288	4	15	KEEP	---	---	---	---	capture		Silent	SNP	94041433	94041433	3816	7	C	A	A	A	392	31	COL1A2	1	1
CYP3A7	1551	broad.mit.edu	37	7	99311122	99311122	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99311122G>A	uc003uru.2	-	c.835C>T	c.(835-837)CAG>TAG	p.Q279*	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,	279					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)													0.127119	18.932586	34.954655	15	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99311122	99311122	4346	7	G	A	A	A	585	45	CYP3A7	5	2
RGS22	26166	broad.mit.edu	37	8	101020662	101020662	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101020662G>A	uc003yjb.1	-	c.2302C>T	c.(2302-2304)CTC>TTC	p.L768F	RGS22_uc003yja.1_Missense_Mutation_p.L587F|RGS22_uc003yjc.1_Missense_Mutation_p.L756F|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	768	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.041958	-21.074476	11.162036	6	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101020662	101020662	13779	8	G	A	A	A	429	33	RGS22	2	2
RNF19A	25897	broad.mit.edu	37	8	101271092	101271092	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101271092C>G	uc003yjj.1	-	c.2209G>C	c.(2209-2211)GAA>CAA	p.E737Q	RNF19A_uc003yjk.1_Missense_Mutation_p.E737Q	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	737	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)									OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.042169	-20.922954	16.444453	7	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101271092	101271092	13948	8	C	G	G	G	416	32	RNF19A	3	3
GRHL2	79977	broad.mit.edu	37	8	102570809	102570809	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:102570809C>T	uc010mbu.2	+	c.447C>T	c.(445-447)ATC>ATT	p.I149I	GRHL2_uc011lhi.1_Silent_p.I149I	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	149					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)											0.086066	1.580913	43.955832	21	223	KEEP	---	---	---	---	capture		Silent	SNP	102570809	102570809	7042	8	C	T	T	T	369	29	GRHL2	2	2
AZIN1	51582	broad.mit.edu	37	8	103851074	103851074	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:103851074T>C	uc003ykx.2	-	c.347A>G	c.(346-348)CAA>CGA	p.Q116R	AZIN1_uc003yky.2_Missense_Mutation_p.Q116R	NM_015878	NP_056962	O14977	AZIN1_HUMAN	ornithine decarboxylase antizyme inhibitor	116					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding				0	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)											0.191781	28.708733	35.187306	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103851074	103851074	1263	8	T	C	C	C	819	63	AZIN1	4	4
RIMS2	9699	broad.mit.edu	37	8	105105841	105105841	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105105841C>G	uc003yls.2	+	c.2864C>G	c.(2863-2865)TCA>TGA	p.S955*	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.S1028*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	409					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.064103	-2.489213	12.92165	5	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105105841	105105841	13845	8	C	G	G	G	365	29	RIMS2	5	3
TM7SF4	81501	broad.mit.edu	37	8	105360888	105360888	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105360888C>A	uc003ylx.1	+	c.108C>A	c.(106-108)TGC>TGA	p.C36*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	36	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.152	31.439543	45.936705	19	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105360888	105360888	16506	8	C	A	A	A	363	28	TM7SF4	5	2
TRHR	7201	broad.mit.edu	37	8	110100433	110100433	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110100433C>G	uc003ymz.3	+	c.692C>G	c.(691-693)TCT>TGT	p.S231C		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	231	Cytoplasmic (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity				0			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)											0.13	19.111601	32.430683	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110100433	110100433	17024	8	C	G	G	G	416	32	TRHR	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110457161	110457161	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457161C>G	uc003yne.2	+	c.5063C>G	c.(5062-5064)TCT>TGT	p.S1688C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1688	IPT/TIG 9.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.052023	-16.071463	20.644077	9	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110457161	110457161	12397	8	C	G	G	G	416	32	PKHD1L1	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110502186	110502186	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110502186G>T	uc003yne.2	+	c.9886G>T	c.(9886-9888)GCA>TCA	p.A3296S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3296	Extracellular (Potential).|PbH1 5.				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)											0.15625	9.653103	13.263403	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110502186	110502186	12397	8	G	T	T	T	598	46	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113529283	113529283	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113529283G>T	uc003ynu.2	-	c.4736C>A	c.(4735-4737)CCC>CAC	p.P1579H	CSMD3_uc003yns.2_Missense_Mutation_p.P851H|CSMD3_uc003ynt.2_Missense_Mutation_p.P1539H|CSMD3_uc011lhx.1_Missense_Mutation_p.P1475H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1579	Extracellular (Potential).|Sushi 8.					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									p.P1579L(NCIH1651-Tumor)	2888	TCGA Ovarian(7;0.080)			0.106383	6.092452	20.549573	10	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113529283	113529283	4087	8	G	T	T	T	559	43	CSMD3	2	2
MED30	90390	broad.mit.edu	37	8	118533130	118533130	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:118533130G>T	uc003yoj.2	+	c.15G>T	c.(13-15)CCG>CCT	p.P5P	MED30_uc011lib.1_Silent_p.P5P	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	5					androgen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			Melanoma(81;817 1341 9674 26244 29255)								0.444444	11.599644	11.623645	4	5	KEEP	---	---	---	---	capture		Silent	SNP	118533130	118533130	9837	8	G	T	T	T	509	40	MED30	1	1
MTBP	27085	broad.mit.edu	37	8	121463434	121463434	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121463434G>C	uc003ypc.1	+	c.297G>C	c.(295-297)GAG>GAC	p.E99D	MTBP_uc003ypb.1_Missense_Mutation_p.E99D|MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	99					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)											0.173913	28.162093	35.082547	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121463434	121463434	10305	8	G	C	C	C	425	33	MTBP	3	3
ASAP1	50807	broad.mit.edu	37	8	131073091	131073091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131073091G>A	uc003yta.1	-	c.2926C>T	c.(2926-2928)CAA>TAA	p.Q976*	ASAP1_uc003ysz.1_Nonsense_Mutation_p.Q787*|ASAP1_uc011liw.1_Nonsense_Mutation_p.Q969*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	976	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4														0.163793	36.15197	48.607101	19	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131073091	131073091	1028	8	G	A	A	A	611	47	ASAP1	5	2
ADCY8	114	broad.mit.edu	37	8	131896913	131896913	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131896913T>A	uc003ytd.3	-	c.2006A>T	c.(2005-2007)AAG>ATG	p.K669M	ADCY8_uc010mds.2_Missense_Mutation_p.K669M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	669	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)											0.076336	-3.839866	20.242125	10	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131896913	131896913	301	8	T	A	A	A	728	56	ADCY8	3	3
TMEM71	137835	broad.mit.edu	37	8	133740077	133740077	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133740077C>T	uc003ytp.2	-	c.640G>A	c.(640-642)GAA>AAA	p.E214K	TMEM71_uc003ytm.1_Missense_Mutation_p.E36K|TMEM71_uc003ytn.2_Missense_Mutation_p.E196K|TMEM71_uc003yto.2_Intron	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	215						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.060345	-8.975288	14.466207	7	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133740077	133740077	16739	8	C	T	T	T	377	29	TMEM71	2	2
TG	7038	broad.mit.edu	37	8	134031879	134031879	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134031879C>T	uc003ytw.2	+	c.6815C>T	c.(6814-6816)TCC>TTC	p.S2272F	TG_uc010mdw.2_Missense_Mutation_p.S1031F|TG_uc011ljb.1_Missense_Mutation_p.S641F|TG_uc011ljc.1_Missense_Mutation_p.S405F	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2272					hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)					p.S2272F(A172-Tumor)	1778				0.344828	53.85978	55.103431	20	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134031879	134031879	16341	8	C	T	T	T	390	30	TG	2	2
WISP1	8840	broad.mit.edu	37	8	134225375	134225375	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134225375G>C	uc003yub.2	+	c.338G>C	c.(337-339)GGA>GCA	p.G113A	WISP1_uc003yuc.2_Missense_Mutation_p.G113A|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.G113A|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	113	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)											0.092105	4.777984	17.498882	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134225375	134225375	17946	8	G	C	C	C	533	41	WISP1	3	3
FAM135B	51059	broad.mit.edu	37	8	139165073	139165073	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139165073G>T	uc003yuy.2	-	c.1645C>A	c.(1645-1647)CCA>ACA	p.P549T	FAM135B_uc003yux.2_Missense_Mutation_p.P450T|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Missense_Mutation_p.P111T|FAM135B_uc003yvb.2_Missense_Mutation_p.P111T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	549										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.069767	-4.173562	12.222915	6	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139165073	139165073	5646	8	G	T	T	T	559	43	FAM135B	2	2
EIF2C2	27161	broad.mit.edu	37	8	141549447	141549447	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141549447C>A	uc003yvn.2	-	c.2141G>T	c.(2140-2142)CGG>CTG	p.R714L	EIF2C2_uc010men.2_Missense_Mutation_p.R637L|EIF2C2_uc010meo.2_Missense_Mutation_p.R714L	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	714	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)											0.086207	-0.958281	9.106232	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141549447	141549447	5195	8	C	A	A	A	299	23	EIF2C2	1	1
PSCA	8000	broad.mit.edu	37	8	143763502	143763502	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143763502G>T	uc003ywu.2	+	c.324G>T	c.(322-324)GCG>GCT	p.A108A		NM_005672	NP_005663	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen preproprotein	99											0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.4	18.176784	18.298218	6	9	KEEP	---	---	---	---	capture		Silent	SNP	143763502	143763502	13098	8	G	T	T	T	483	38	PSCA	1	1
PUF60	22827	broad.mit.edu	37	8	144902887	144902887	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144902887C>A	uc003yzs.2	-	c.298_splice	c.e5-1	p.M100_splice	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Splice_Site_SNP_p.M57_splice|PUF60_uc003yzu.1_Splice_Site_SNP_p.M89_splice	NM_078480	NP_510965			poly-U binding splicing factor 60KDa isoform a						apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)											0.28	18.213448	19.301922	7	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	144902887	144902887	13282	8	C	A	A	A	416	32	PUF60	5	2
SPATC1	375686	broad.mit.edu	37	8	145094966	145094966	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145094966C>T	uc011lkw.1	+	c.368C>T	c.(367-369)ACG>ATG	p.T123M	SPATC1_uc011lkx.1_Missense_Mutation_p.T123M	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	123										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.227273	11.668577	13.166951	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145094966	145094966	15527	8	C	T	T	T	247	19	SPATC1	1	1
DGAT1	8694	broad.mit.edu	37	8	145541079	145541079	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145541079G>A	uc003zbv.3	-	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	DGAT1_uc010mfv.2_Intron	NM_012079	NP_036211	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	337	Lumenal (Potential).				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)											0.111111	3.60474	7.641969	3	24	KEEP	---	---	---	---	capture		Silent	SNP	145541079	145541079	4636	8	G	A	A	A	425	33	DGAT1	2	2
PCM1	5108	broad.mit.edu	37	8	17849061	17849061	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17849061G>A	uc003wyi.3	+	c.4542G>A	c.(4540-4542)GTG>GTA	p.V1514V	PCM1_uc011kyh.1_Silent_p.V1514V|PCM1_uc003wyj.3_Silent_p.V1460V|PCM1_uc011kyi.1_Silent_p.V321V|PCM1_uc011kyj.1_Silent_p.V270V|PCM1_uc003wyk.3_Silent_p.V196V|PCM1_uc011kyk.1_Silent_p.V138V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1514	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33				Colorectal(111;0.0789)						797				0.064516	-4.053311	8.171928	4	58	KEEP	---	---	---	---	capture		Silent	SNP	17849061	17849061	12004	8	G	A	A	A	574	45	PCM1	2	2
HR	55806	broad.mit.edu	37	8	21977862	21977862	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21977862C>A	uc003xas.2	-	c.2769G>T	c.(2767-2769)TGG>TGT	p.W923C	HR_uc003xat.2_Missense_Mutation_p.W923C	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	923							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)										0.25	7.019957	7.701331	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21977862	21977862	7639	8	C	A	A	A	338	26	HR	2	2
C8orf80	389643	broad.mit.edu	37	8	27898706	27898706	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27898706C>A	uc003xgm.3	-	c.1473G>T	c.(1471-1473)CTG>CTT	p.L491L		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	491						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)										0.178571	8.955697	11.681641	5	23	KEEP	---	---	---	---	capture		Silent	SNP	27898706	27898706	2551	8	C	A	A	A	314	25	C8orf80	2	2
UNC5D	137970	broad.mit.edu	37	8	35406824	35406824	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35406824G>A	uc003xjr.1	+	c.118G>A	c.(118-120)GAA>AAA	p.E40K	UNC5D_uc003xjs.1_Missense_Mutation_p.E35K	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	40	Extracellular (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.08	0.204918	9.161786	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35406824	35406824	17553	8	G	A	A	A	481	37	UNC5D	1	1
BRF2	55290	broad.mit.edu	37	8	37702165	37702165	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37702165C>T	uc003xkk.2	-	c.1103G>A	c.(1102-1104)CGG>CAG	p.R368Q		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	368					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|transcription regulator activity|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)							145				0.368421	18.321714	18.609914	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37702165	37702165	1542	8	C	T	T	T	299	23	BRF2	1	1
GOT1L1	137362	broad.mit.edu	37	8	37794809	37794809	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37794809G>T	uc011lbj.1	-	c.505C>A	c.(505-507)CTC>ATC	p.L169I		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	169					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)											0.333333	22.592273	23.182551	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37794809	37794809	6853	8	G	T	T	T	455	35	GOT1L1	2	2
ANK1	286	broad.mit.edu	37	8	41525861	41525861	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41525861G>T	uc003xom.2	-	c.5441C>A	c.(5440-5442)GCC>GAC	p.A1814D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A927D|ANK1_uc003xoi.2_Missense_Mutation_p.A1773D|ANK1_uc003xoj.2_Missense_Mutation_p.A1773D|ANK1_uc003xok.2_Missense_Mutation_p.A1773D|ANK1_uc003xol.2_Missense_Mutation_p.A1611D	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	1773	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.169118	39.921717	53.967177	23	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41525861	41525861	623	8	G	T	T	T	546	42	ANK1	2	2
VDAC3	7419	broad.mit.edu	37	8	42252647	42252647	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42252647G>C	uc003xpc.2	+	c.113G>C	c.(112-114)GGA>GCA	p.G38A	VDAC3_uc010lxk.2_Missense_Mutation_p.G38A|VDAC3_uc011lct.1_Missense_Mutation_p.G38A	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform a	38					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity				0	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)									0.1875	12.728748	15.657785	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42252647	42252647	17715	8	G	C	C	C	533	41	VDAC3	3	3
PRKDC	5591	broad.mit.edu	37	8	48866265	48866265	+	Silent	SNP	T	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48866265T>C	uc003xqi.2	-	c.636A>G	c.(634-636)GTA>GTG	p.V212V	PRKDC_uc003xqj.2_Silent_p.V212V|PRKDC_uc011ldh.1_Silent_p.V212V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	212					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.122449	10.417816	17.252704	6	43	KEEP	---	---	---	---	capture		Silent	SNP	48866265	48866265	12964	8	T	C	C	C	782	61	PRKDC	4	4
SNAI2	6591	broad.mit.edu	37	8	49831474	49831474	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:49831474C>A	uc003xqp.2	-	c.699G>T	c.(697-699)CAG>CAT	p.Q233H		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	233	C2H2-type 4.				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)												0.208333	22.522377	26.304789	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49831474	49831474	15327	8	C	A	A	A	415	32	SNAI2	2	2
PXDNL	137902	broad.mit.edu	37	8	52320978	52320978	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52320978G>T	uc003xqu.3	-	c.3206C>A	c.(3205-3207)GCC>GAC	p.A1069D	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1069					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.28125	22.45982	23.837439	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52320978	52320978	13306	8	G	T	T	T	546	42	PXDNL	2	2
PXDNL	137902	broad.mit.edu	37	8	52336186	52336186	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52336186C>A	uc003xqu.3	-	c.1744G>T	c.(1744-1746)GCT>TCT	p.A582S		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	582	Ig-like C2-type 4.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.196721	24.562368	29.792506	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52336186	52336186	13306	8	C	A	A	A	338	26	PXDNL	2	2
PXDNL	137902	broad.mit.edu	37	8	52336205	52336205	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52336205C>A	uc003xqu.3	-	c.1725G>T	c.(1723-1725)CAG>CAT	p.Q575H		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	575	Ig-like C2-type 4.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.179104	23.456066	29.951669	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52336205	52336205	13306	8	C	A	A	A	311	24	PXDNL	2	2
OPRK1	4986	broad.mit.edu	37	8	54141892	54141892	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54141892G>T	uc003xrh.1	-	c.1108C>A	c.(1108-1110)CTG>ATG	p.L370M	OPRK1_uc003xri.1_Missense_Mutation_p.L370M|OPRK1_uc010lyc.1_Missense_Mutation_p.L281M	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	370	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)	1		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)									0.444444	61.397727	61.518039	20	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54141892	54141892	11291	8	G	T	T	T	451	35	OPRK1	2	2
TMEM68	137695	broad.mit.edu	37	8	56675493	56675493	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:56675493C>A	uc003xsg.1	-	c.26G>T	c.(25-27)GGT>GTT	p.G9V	TMEM68_uc003xsh.1_Missense_Mutation_p.G9V|TMEM68_uc003xsi.1_Missense_Mutation_p.G9V	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	9						integral to membrane	acyltransferase activity				0			Epithelial(17;0.000361)|all cancers(17;0.00326)											0.189189	29.003441	35.693994	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56675493	56675493	16736	8	C	A	A	A	234	18	TMEM68	2	2
ASPH	444	broad.mit.edu	37	8	62465608	62465608	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:62465608C>G	uc003xuj.2	-	c.1608G>C	c.(1606-1608)CAG>CAC	p.Q536H	ASPH_uc011leg.1_Missense_Mutation_p.Q507H	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	536	TPR 4.|Lumenal (Potential).				muscle contraction|oxidation-reduction process	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)					528				0.039437	-50.934297	30.285588	14	341	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62465608	62465608	1072	8	C	G	G	G	415	32	ASPH	3	3
DEFA4	1669	broad.mit.edu	37	8	6794277	6794277	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6794277C>G	uc003wqu.1	-	c.145G>C	c.(145-147)GAT>CAT	p.D49H		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	49					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)										0.107143	4.10389	8.39145	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6794277	6794277	4562	8	C	G	G	G	390	30	DEFA4	3	3
KCNB2	9312	broad.mit.edu	37	8	73848655	73848655	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73848655T>G	uc003xzb.2	+	c.1065T>G	c.(1063-1065)TTT>TTG	p.F355L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	355	Helical; Name=Segment S5; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.505618	308.350417	308.355312	90	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73848655	73848655	8318	8	T	G	G	G	816	63	KCNB2	4	4
JPH1	56704	broad.mit.edu	37	8	75227268	75227268	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75227268C>T	uc003yae.2	-	c.967G>A	c.(967-969)GAC>AAC	p.D323N	JPH1_uc003yaf.2_Missense_Mutation_p.D323N|JPH1_uc003yag.1_Missense_Mutation_p.D187N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	323	Cytoplasmic (Potential).|MORN 7.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)											0.183333	22.396076	28.038417	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75227268	75227268	8264	8	C	T	T	T	377	29	JPH1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77617728	77617728	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617728C>A	uc003yav.2	+	c.1405C>A	c.(1405-1407)CCG>ACG	p.P469T	ZFHX4_uc003yat.1_Missense_Mutation_p.P469T|ZFHX4_uc003yau.1_Missense_Mutation_p.P469T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P469T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	469					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)											0.196429	23.691248	28.502503	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77617728	77617728	18223	8	C	A	A	A	234	18	ZFHX4	2	2
CA2	760	broad.mit.edu	37	8	86385924	86385924	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86385924C>A	uc003ydk.2	+	c.235C>A	c.(235-237)CTC>ATC	p.L79I		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	79					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)									0.081081	-0.105769	6.51213	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86385924	86385924	2632	8	C	A	A	A	364	28	CA2	2	2
MMP16	4325	broad.mit.edu	37	8	89180027	89180027	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89180027C>A	uc003yeb.3	-	c.580G>T	c.(580-582)GGG>TGG	p.G194W	MMP16_uc003yec.2_Missense_Mutation_p.G194W	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	194	Extracellular (Potential).				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														0.147059	17.707185	25.842661	10	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89180027	89180027	10045	8	C	A	A	A	273	21	MMP16	2	2
MMP16	4325	broad.mit.edu	37	8	89180029	89180029	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89180029T>A	uc003yeb.3	-	c.578A>T	c.(577-579)CAT>CTT	p.H193L	MMP16_uc003yec.2_Missense_Mutation_p.H193L	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	193	Extracellular (Potential).				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														0.151515	19.119502	26.784617	10	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89180029	89180029	10045	8	T	A	A	A	663	51	MMP16	3	3
RIPK2	8767	broad.mit.edu	37	8	90775204	90775204	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:90775204A>T	uc003yee.2	+	c.321A>T	c.(319-321)CTA>CTT	p.L107L	RIPK2_uc003yef.2_Intron	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	107	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|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|positive regulation of protein ubiquitination|stress-activated MAPK cascade|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0474)							686				0.090909	1.437286	10.715115	5	50	KEEP	---	---	---	---	capture		Silent	SNP	90775204	90775204	13858	8	A	T	T	T	171	14	RIPK2	3	3
C8orf37	157657	broad.mit.edu	37	8	96281381	96281381	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:96281381C>G	uc003yho.1	-	c.37G>C	c.(37-39)GAG>CAG	p.E13Q		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	hypothetical protein LOC157657	13											0	Breast(36;3.41e-05)											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.085616	6.328313	57.122204	25	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96281381	96281381	2533	8	C	G	G	G	403	31	C8orf37	3	3
PGCP	10404	broad.mit.edu	37	8	98155361	98155361	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98155361G>A	uc003yhw.2	+	c.1369G>A	c.(1369-1371)GTT>ATT	p.V457I		NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	457					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.063636	-7.606099	14.138009	7	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98155361	98155361	12209	8	G	A	A	A	624	48	PGCP	2	2
TSPYL5	85453	broad.mit.edu	37	8	98289327	98289327	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98289327G>T	uc003yhy.2	-	c.746C>A	c.(745-747)CCG>CAG	p.P249Q		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	249					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)													0.086957	3.39739	23.226216	10	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98289327	98289327	17215	8	G	T	T	T	507	39	TSPYL5	1	1
KIAA1529	57653	broad.mit.edu	37	9	100071866	100071866	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100071866G>T	uc011lut.1	+	c.789G>T	c.(787-789)ATG>ATT	p.M263I	KIAA1529_uc004axe.1_Missense_Mutation_p.M263I|KIAA1529_uc004axg.1_Missense_Mutation_p.M124I|KIAA1529_uc011lus.1_Missense_Mutation_p.M124I|KIAA1529_uc010msm.1_Non-coding_Transcript|KIAA1529_uc004axf.2_Missense_Mutation_p.M124I|KIAA1529_uc011luv.1_Missense_Mutation_p.M124I	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)	6		Acute lymphoblastic leukemia(62;0.154)												0.151515	8.953378	12.79139	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100071866	100071866	8549	9	G	T	T	T	611	47	KIAA1529	2	2
TMOD1	7111	broad.mit.edu	37	9	100308482	100308482	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100308482G>C	uc004axk.1	+	c.136G>C	c.(136-138)GCA>CCA	p.A46P	TMOD1_uc004axl.1_Missense_Mutation_p.A46P	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	46	Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)										0.435294	122.766672	123.076193	37	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100308482	100308482	16773	9	G	C	C	C	598	46	TMOD1	3	3
INVS	27130	broad.mit.edu	37	9	103035340	103035340	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103035340G>A	uc004bap.1	+	c.1766G>A	c.(1765-1767)AGA>AAA	p.R589K	INVS_uc010mta.1_Missense_Mutation_p.R493K|INVS_uc011lve.1_Missense_Mutation_p.R493K|INVS_uc004bao.1_Missense_Mutation_p.R589K|INVS_uc004baq.1_Missense_Mutation_p.R493K|INVS_uc004bar.1_Missense_Mutation_p.R493K|INVS_uc010mtb.1_Missense_Mutation_p.R263K	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	589					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)												0.069182	-7.882198	22.610536	11	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103035340	103035340	8088	9	G	A	A	A	429	33	INVS	2	2
OR13C9	286362	broad.mit.edu	37	9	107379756	107379756	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107379756G>A	uc011lvr.1	-	c.730C>T	c.(730-732)CAT>TAT	p.H244Y		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.304878	72.045864	74.829938	25	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107379756	107379756	11345	9	G	A	A	A	611	47	OR13C9	2	2
TMEM38B	55151	broad.mit.edu	37	9	108468025	108468025	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:108468025C>T	uc004bcu.1	+	c.260C>T	c.(259-261)TCT>TTT	p.S87F	TMEM38B_uc010mtn.1_Missense_Mutation_p.S87F	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	87	Helical; (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)	1														0.107143	6.706914	15.283693	6	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108468025	108468025	16699	9	C	T	T	T	416	32	TMEM38B	2	2
ZNF462	58499	broad.mit.edu	37	9	109690339	109690339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109690339G>A	uc004bcz.2	+	c.4146G>A	c.(4144-4146)TGG>TGA	p.W1382*	ZNF462_uc010mto.2_Nonsense_Mutation_p.W1230*|ZNF462_uc004bda.2_Nonsense_Mutation_p.W1230*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1382					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.179775	32.083209	40.656343	16	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	109690339	109690339	18519	9	G	A	A	A	559	43	ZNF462	5	2
CTNNAL1	8727	broad.mit.edu	37	9	111706259	111706259	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111706259G>A	uc004bdo.1	-	c.1924C>T	c.(1924-1926)CAA>TAA	p.Q642*	CTNNAL1_uc010mts.1_Nonsense_Mutation_p.Q294*|CTNNAL1_uc010mtt.1_Nonsense_Mutation_p.Q642*|CTNNAL1_uc004bdp.1_Nonsense_Mutation_p.Q642*|CTNNAL1_uc004bdq.1_Nonsense_Mutation_p.Q128*	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	642					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)										0.069565	-4.693829	17.313438	8	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111706259	111706259	4174	9	G	A	A	A	585	45	CTNNAL1	5	2
HSDL2	84263	broad.mit.edu	37	9	115216390	115216390	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115216390C>T	uc004bga.1	+	c.963C>T	c.(961-963)CTC>CTT	p.L321L	HSDL2_uc011lwv.1_Silent_p.L200L|HSDL2_uc004bgb.1_Silent_p.L155L|HSDL2_uc004bgc.1_Silent_p.L248L|HSDL2_uc011lww.1_Silent_p.L116L	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.				oxidation-reduction process	peroxisome	oxidoreductase activity|sterol binding				0														0.07971	-0.988704	23.893271	11	127	KEEP	---	---	---	---	capture		Silent	SNP	115216390	115216390	7689	9	C	T	T	T	366	29	HSDL2	2	2
HDHD3	81932	broad.mit.edu	37	9	116136292	116136292	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116136292C>G	uc004bhi.1	-	c.343G>C	c.(343-345)GAT>CAT	p.D115H	HDHD3_uc004bhj.2_Missense_Mutation_p.D115H|HDHD3_uc004bhk.2_Missense_Mutation_p.D115H	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	115							phosphoglycolate phosphatase activity|protein binding				0														0.123967	19.439801	36.187389	15	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116136292	116136292	7307	9	C	G	G	G	390	30	HDHD3	3	3
C9orf43	257169	broad.mit.edu	37	9	116186457	116186457	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116186457G>C	uc004bho.3	+	c.668G>C	c.(667-669)GGT>GCT	p.G223A	C9orf43_uc004bhp.2_Missense_Mutation_p.G223A	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	223											0														0.077778	1.226985	17.567907	7	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116186457	116186457	2598	9	G	C	C	C	572	44	C9orf43	3	3
TNC	3371	broad.mit.edu	37	9	117793890	117793890	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117793890C>A	uc004bjj.3	-	c.5862G>T	c.(5860-5862)AAG>AAT	p.K1954N	TNC_uc010mvf.2_Missense_Mutation_p.K1681N	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1954	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.117647	8.849236	18.624136	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117793890	117793890	16811	9	C	A	A	A	415	32	TNC	2	2
TNC	3371	broad.mit.edu	37	9	117840257	117840257	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117840257A>T	uc004bjj.3	-	c.2639T>A	c.(2638-2640)ATG>AAG	p.M880K	TNC_uc010mvf.2_Missense_Mutation_p.M880K	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	880	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.364865	79.440802	80.614364	27	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117840257	117840257	16811	9	A	T	T	T	104	8	TNC	3	3
ASTN2	23245	broad.mit.edu	37	9	119858368	119858368	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119858368G>T	uc004bjs.1	-	c.1231C>A	c.(1231-1233)CTG>ATG	p.L411M	ASTN2_uc004bjr.1_Missense_Mutation_p.L411M|ASTN2_uc004bjt.1_Missense_Mutation_p.L360M	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	411	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.44186	55.217667	55.344503	19	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119858368	119858368	1084	9	G	T	T	T	438	34	ASTN2	2	2
PHF19	26147	broad.mit.edu	37	9	123623386	123623386	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123623386C>T	uc004bks.1	-	c.1285G>A	c.(1285-1287)GAA>AAA	p.E429K	PHF19_uc011lyf.1_Missense_Mutation_p.E220K|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2														0.087719	1.228419	11.032216	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123623386	123623386	12252	9	C	T	T	T	377	29	PHF19	2	2
OR1N2	138882	broad.mit.edu	37	9	125316159	125316159	+	Silent	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125316159C>A	uc011lyx.1	+	c.711C>A	c.(709-711)CGC>CGA	p.R237R		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.273224	131.370527	139.851179	50	133	KEEP	---	---	---	---	capture		Silent	SNP	125316159	125316159	11376	9	C	A	A	A	314	25	OR1N2	2	2
OR1L3	26735	broad.mit.edu	37	9	125438141	125438141	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125438141C>T	uc011lzb.1	+	c.733C>T	c.(733-735)CTC>TTC	p.L245F		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.423913	117.711389	118.175593	39	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125438141	125438141	11370	9	C	T	T	T	416	32	OR1L3	2	2
PBX3	5090	broad.mit.edu	37	9	128692084	128692084	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:128692084G>A	uc004bqb.2	+	c.667G>A	c.(667-669)GAA>AAA	p.E223K	PBX3_uc004bqc.2_Missense_Mutation_p.E42K|PBX3_uc004bqd.2_Missense_Mutation_p.E42K|PBX3_uc011lzw.1_Missense_Mutation_p.E148K|PBX3_uc011lzx.1_Missense_Mutation_p.E134K|PBX3_uc004bqe.2_Missense_Mutation_p.E110K	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	223					anterior compartment pattern formation|posterior compartment specification|regulation of transcription, DNA-dependent		sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.104478	11.947763	32.802578	14	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128692084	128692084	11914	9	G	A	A	A	585	45	PBX3	2	2
TOR1A	1861	broad.mit.edu	37	9	132576319	132576319	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:132576319C>G	uc004byl.2	-	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	TOR1A_uc004bym.2_Non-coding_Transcript	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	311					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)												0.103093	11.144848	26.309785	10	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132576319	132576319	16913	9	C	G	G	G	390	30	TOR1A	3	3
NUP214	8021	broad.mit.edu	37	9	134014772	134014772	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134014772A>T	uc004cag.2	+	c.1110A>T	c.(1108-1110)ACA>ACT	p.T370T	NUP214_uc004cah.2_Silent_p.T370T|NUP214_uc004caf.1_Silent_p.T370T	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	370					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		Pancreas(4;24 48 25510 30394 32571)				1058				0.135135	16.701302	26.246711	10	64	KEEP	---	---	---	---	capture		Silent	SNP	134014772	134014772	11167	9	A	T	T	T	54	5	NUP214	3	3
NUP214	8021	broad.mit.edu	37	9	134014781	134014781	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134014781G>T	uc004cag.2	+	c.1119G>T	c.(1117-1119)GTG>GTT	p.V373V	NUP214_uc004cah.2_Silent_p.V373V|NUP214_uc004caf.1_Silent_p.V373V	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	373					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		Pancreas(4;24 48 25510 30394 32571)				1058				0.133333	14.197794	23.986169	10	65	KEEP	---	---	---	---	capture		Silent	SNP	134014781	134014781	11167	9	G	T	T	T	600	47	NUP214	2	2
POMT1	10585	broad.mit.edu	37	9	134382876	134382876	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134382876G>T	uc004cav.2	+	c.402G>T	c.(400-402)ATG>ATT	p.M134I	POMT1_uc011mci.1_Missense_Mutation_p.M134I|POMT1_uc004cax.2_Missense_Mutation_p.M134I|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Missense_Mutation_p.M134I|POMT1_uc004caw.2_Missense_Mutation_p.M80I|POMT1_uc011mck.1_Missense_Mutation_p.M17I|POMT1_uc011mcl.1_Intron|POMT1_uc011mcm.1_Missense_Mutation_p.M104I|POMT1_uc011mcn.1_5'Flank	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	134	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding				0		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)										0.362319	68.075754	69.21824	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134382876	134382876	12674	9	G	T	T	T	611	47	POMT1	2	2
NOTCH1	4851	broad.mit.edu	37	9	139395166	139395166	+	Silent	SNP	T	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139395166T>G	uc004chz.2	-	c.5772A>C	c.(5770-5772)ACA>ACC	p.T1924T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1924	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of gene-specific transcription|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(781)|lung(11)|central_nervous_system(10)|breast(4)|upper_aerodigestive_tract(1)|large_intestine(1)|oesophagus(1)|pancreas(1)	810	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)						1552				0.461538	14.327502	14.346017	6	7	KEEP	---	---	---	---	capture		Silent	SNP	139395166	139395166	10950	9	T	G	G	G	704	55	NOTCH1	4	4
EHMT1	79813	broad.mit.edu	37	9	140652427	140652427	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140652427C>G	uc011mfc.1	+	c.1465C>G	c.(1465-1467)CTC>GTC	p.L489V	EHMT1_uc004coa.2_Missense_Mutation_p.L489V|EHMT1_uc004cob.1_Missense_Mutation_p.L458V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	489					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)										0.056818	-6.6002	11.553019	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140652427	140652427	5172	9	C	G	G	G	416	32	EHMT1	3	3
CACNA1B	774	broad.mit.edu	37	9	140773555	140773555	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140773555C>A	uc004cog.2	+	c.334C>A	c.(334-336)CTG>ATG	p.L112M		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	112	Helical; Name=S1 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)									0.4	27.541648	27.761079	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140773555	140773555	2655	9	C	A	A	A	363	28	CACNA1B	2	2
SH3GL2	6456	broad.mit.edu	37	9	17786510	17786510	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17786510G>A	uc003zna.2	+	c.319G>A	c.(319-321)GAT>AAT	p.D107N	SH3GL2_uc011lmx.1_Missense_Mutation_p.D72N|SH3GL2_uc011lmy.1_Missense_Mutation_p.D60N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	107	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding				0				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)										0.179487	14.700651	18.470117	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17786510	17786510	14743	9	G	A	A	A	585	45	SH3GL2	2	2
DENND4C	55667	broad.mit.edu	37	9	19326161	19326161	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19326161G>C	uc003znq.2	+	c.1381G>C	c.(1381-1383)GAT>CAT	p.D461H	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	461						integral to membrane				ovary(1)	1														0.052632	-6.166835	9.904764	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19326161	19326161	4614	9	G	C	C	C	585	45	DENND4C	3	3
SMARCA2	6595	broad.mit.edu	37	9	2182167	2182167	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2182167G>C	uc003zhc.2	+	c.4386G>C	c.(4384-4386)CGG>CGC	p.R1462R	SMARCA2_uc003zhd.2_Silent_p.R1444R|SMARCA2_uc010mha.2_Silent_p.R1377R|SMARCA2_uc011llw.1_Silent_p.R148R|SMARCA2_uc003zhf.2_Silent_p.R126R|SMARCA2_uc011llx.1_Silent_p.R108R|SMARCA2_uc003zhe.2_Silent_p.R150R|SMARCA2_uc003zhg.2_Silent_p.R108R|SMARCA2_uc010mhb.2_Silent_p.R132R	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1462	Bromo.				chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)										0.099432	34.8377	91.218694	35	317	KEEP	---	---	---	---	capture		Silent	SNP	2182167	2182167	15267	9	G	C	C	C	522	41	SMARCA2	3	3
CDKN2A	1029	broad.mit.edu	37	9	21971047	21971047	+	Silent	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21971047A>T	uc003zpl.2	-	c.477T>A	c.(475-477)GCT>GCA	p.A159A	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc003zpk.2_Missense_Mutation_p.L104Q|CDKN2A_uc010miu.2_Non-coding_Transcript	NM_058195	NP_478102	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 4	134	ANK 4.		A -> V (in non-small cell lung carcinoma).		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.H83fs*2(2)|p.A68fs*3(1)|p.T93_D105del(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)			0.2	6.817155	8.072255	3	12	KEEP	---	---	---	---	capture		Silent	SNP	21971047	21971047	3290	9	A	T	T	T	91	7	CDKN2A	3	3
DOCK8	81704	broad.mit.edu	37	9	312100	312100	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:312100G>C	uc003zgf.2	+	c.675G>C	c.(673-675)CAG>CAC	p.Q225H	DOCK8_uc011lls.1_Missense_Mutation_p.Q225H|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.Q157H|DOCK8_uc010mgt.2_Missense_Mutation_p.Q157H|DOCK8_uc003zgg.2_Missense_Mutation_p.Q157H|DOCK8_uc003zgh.2_Non-coding_Transcript	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	225					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)										0.218182	30.369595	34.396154	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	312100	312100	4877	9	G	C	C	C	425	33	DOCK8	3	3
GNE	10020	broad.mit.edu	37	9	36227406	36227406	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36227406G>A	uc010mli.2	-	c.1213C>T	c.(1213-1215)CTC>TTC	p.L405F	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.L374F|GNE_uc010mlh.2_Missense_Mutation_p.L374F|GNE_uc011lpl.1_Missense_Mutation_p.L264F|GNE_uc010mlj.2_Missense_Mutation_p.L369F	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	374	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GBM(184;106 2118 20004 35750 50727)								0.114286	4.67787	9.808656	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36227406	36227406	6791	9	G	A	A	A	429	33	GNE	2	2
EXOSC3	51010	broad.mit.edu	37	9	37780858	37780858	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37780858C>T	uc004aal.2	-	c.646G>A	c.(646-648)GAA>AAA	p.E216K	EXOSC3_uc010mly.1_Missense_Mutation_p.E216K|EXOSC3_uc004aam.2_Silent_p.*165*	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	exosome component 3 isoform 1	216					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)	2				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)										0.1875	5.914519	7.378709	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37780858	37780858	5509	9	C	T	T	T	377	29	EXOSC3	2	2
FAM75A3	727830	broad.mit.edu	37	9	40702671	40702671	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702671G>T	uc010mmj.2	+	c.328G>T	c.(328-330)GAC>TAC	p.D110Y		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	110						integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.16	14.968109	20.47192	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40702671	40702671	5845	9	G	T	T	T	585	45	FAM75A3	2	2
CD274	29126	broad.mit.edu	37	9	5457304	5457304	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5457304C>A	uc003zje.2	+	c.278C>A	c.(277-279)TCC>TAC	p.S93Y	C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_Missense_Mutation_p.S93Y|CD274_uc010mhn.2_Non-coding_Transcript|CD274_uc003zjf.2_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	93	Extracellular (Potential).|Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)										0.102564	2.086374	8.213409	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5457304	5457304	3119	9	C	A	A	A	390	30	CD274	2	2
KIAA2026	158358	broad.mit.edu	37	9	5922047	5922047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5922047G>A	uc003zjq.3	-	c.3949C>T	c.(3949-3951)CAG>TAG	p.Q1317*	KIAA2026_uc010mht.2_Nonsense_Mutation_p.Q492*	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1317	Ser-rich.									ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.147959	44.322079	67.693712	29	167	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5922047	5922047	8581	9	G	A	A	A	585	45	KIAA2026	5	2
PTPRD	5789	broad.mit.edu	37	9	8484287	8484287	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8484287G>A	uc003zkk.2	-	c.3245C>T	c.(3244-3246)TCA>TTA	p.S1082L	PTPRD_uc003zkp.2_Missense_Mutation_p.S671L|PTPRD_uc003zkq.2_Missense_Mutation_p.S671L|PTPRD_uc003zkr.2_Missense_Mutation_p.S666L|PTPRD_uc003zks.2_Missense_Mutation_p.S661L|PTPRD_uc003zkl.2_Missense_Mutation_p.S1073L|PTPRD_uc003zkm.2_Missense_Mutation_p.S1069L|PTPRD_uc003zkn.2_Missense_Mutation_p.S671L|PTPRD_uc003zko.2_Missense_Mutation_p.S668L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1082	Fibronectin type-III 8.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.151515	7.85124	11.692921	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8484287	8484287	13256	9	G	A	A	A	585	45	PTPRD	2	2
PTPRD	5789	broad.mit.edu	37	9	8507340	8507340	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8507340G>C	uc003zkk.2	-	c.1638C>G	c.(1636-1638)AAC>AAG	p.N546K	PTPRD_uc003zkp.2_Missense_Mutation_p.N546K|PTPRD_uc003zkq.2_Missense_Mutation_p.N546K|PTPRD_uc003zkr.2_Missense_Mutation_p.N540K|PTPRD_uc003zks.2_Missense_Mutation_p.N536K|PTPRD_uc003zkl.2_Missense_Mutation_p.N546K|PTPRD_uc003zkm.2_Missense_Mutation_p.N533K|PTPRD_uc003zkn.2_Missense_Mutation_p.N546K|PTPRD_uc003zko.2_Missense_Mutation_p.N543K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	546	Fibronectin type-III 3.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.453704	159.065783	159.266727	49	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8507340	8507340	13256	9	G	C	C	C	464	36	PTPRD	3	3
PTPRD	5789	broad.mit.edu	37	9	8636819	8636819	+	Silent	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8636819G>C	uc003zkk.2	-	c.90C>G	c.(88-90)CCC>CCG	p.P30P	PTPRD_uc003zkp.2_Silent_p.P30P|PTPRD_uc003zkq.2_Silent_p.P30P|PTPRD_uc003zkr.2_Silent_p.P30P|PTPRD_uc003zks.2_Silent_p.P30P|PTPRD_uc003zkl.2_Silent_p.P30P|PTPRD_uc003zkm.2_Silent_p.P30P|PTPRD_uc003zkn.2_Silent_p.P30P|PTPRD_uc003zko.2_Silent_p.P30P|PTPRD_uc003zkt.1_Silent_p.P30P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	30	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.387097	66.483365	67.176591	24	38	KEEP	---	---	---	---	capture		Silent	SNP	8636819	8636819	13256	9	G	C	C	C	496	39	PTPRD	3	3
C9orf79	286234	broad.mit.edu	37	9	90499921	90499922	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90499921_90499922CC>AA	uc004app.3	+	c.519_520CC>AA	c.(517-522)GCCCAC>GCAAAC	p.H174N	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	174	Pro-rich.					integral to membrane				ovary(3)	3														0.171875	20.817956	27.2272	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	90499921	90499922	2613	9	CC	AA	AA	AA	275	22	C9orf79	2	2
IRS4	8471	broad.mit.edu	37	X	107977986	107977986	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107977986C>G	uc004eoc.2	-	c.1589G>C	c.(1588-1590)CGA>CCA	p.R530P		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	530						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.442623	88.221406	88.39552	27	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107977986	107977986	8146	23	C	G	G	G	403	31	IRS4	3	3
LUZP4	51213	broad.mit.edu	37	X	114541031	114541031	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114541031G>C	uc004eqa.2	+	c.604G>C	c.(604-606)GAG>CAG	p.E202Q	LUZP4_uc004eqb.2_Missense_Mutation_p.E120Q	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	202						nucleus				ovary(2)	2														0.169811	41.990972	52.919341	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114541031	114541031	9464	23	G	C	C	C	585	45	LUZP4	3	3
ATP1B4	23439	broad.mit.edu	37	X	119513326	119513326	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119513326A>T	uc004esr.2	+	c.913_splice	c.e8-2	p.V305_splice	ATP1B4_uc004esq.2_Splice_Site_SNP_p.V301_splice|ATP1B4_uc011mtx.1_Splice_Site_SNP_p.V270_splice|ATP1B4_uc011mty.1_Splice_Site_SNP_p.V262_splice	NM_001142447	NP_001135919			ATPase, (Na+)/K+ transporting, beta 4						ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2														0.375	63.860662	64.629037	21	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	119513326	119513326	1154	23	A	T	T	T	91	7	ATP1B4	5	3
ODZ1	10178	broad.mit.edu	37	X	123870932	123870932	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123870932C>T	uc010nqy.2	-	c.651G>A	c.(649-651)CAG>CAA	p.Q217Q	ODZ1_uc011muj.1_Silent_p.Q217Q|ODZ1_uc004euj.2_Silent_p.Q217Q	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	217	Teneurin N-terminal.|Cytoplasmic (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				0.153846	14.264565	20.223837	8	44	KEEP	---	---	---	---	capture		Silent	SNP	123870932	123870932	11239	23	C	T	T	T	415	32	ODZ1	2	2
BCORL1	63035	broad.mit.edu	37	X	129149328	129149328	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129149328C>T	uc004evb.1	+	c.2580C>T	c.(2578-2580)ATC>ATT	p.I860I	BCORL1_uc010nrd.1_Silent_p.I762I	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	860					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.434783	28.045121	28.13064	10	13	KEEP	---	---	---	---	capture		Silent	SNP	129149328	129149328	1408	23	C	T	T	T	369	29	BCORL1	2	2
BCORL1	63035	broad.mit.edu	37	X	129150088	129150088	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129150088C>G	uc004evb.1	+	c.3340C>G	c.(3340-3342)CTG>GTG	p.L1114V	BCORL1_uc010nrd.1_Missense_Mutation_p.L1016V	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1114					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.47619	30.545684	30.556194	10	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129150088	129150088	1408	23	C	G	G	G	415	32	BCORL1	3	3
GPC4	2239	broad.mit.edu	37	X	132445407	132445407	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132445407G>C	uc004exc.1	-	c.756C>G	c.(754-756)ATC>ATG	p.I252M	GPC4_uc011mvg.1_Missense_Mutation_p.I182M	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	252					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.224138	30.03727	34.102394	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132445407	132445407	6874	23	G	C	C	C	421	33	GPC4	3	3
GPR112	139378	broad.mit.edu	37	X	135431050	135431050	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431050G>T	uc004ezu.1	+	c.5185G>T	c.(5185-5187)GTG>TTG	p.V1729L	GPR112_uc010nsb.1_Missense_Mutation_p.V1524L|GPR112_uc010nsc.1_Missense_Mutation_p.V1496L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1729	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				0.16	40.61687	54.377892	20	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135431050	135431050	6903	23	G	T	T	T	624	48	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135431650	135431650	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431650C>G	uc004ezu.1	+	c.5785C>G	c.(5785-5787)CTA>GTA	p.L1929V	GPR112_uc010nsb.1_Missense_Mutation_p.L1724V|GPR112_uc010nsc.1_Missense_Mutation_p.L1696V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1929	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				0.292135	74.493883	77.952118	26	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135431650	135431650	6903	23	C	G	G	G	415	32	GPR112	3	3
BRS3	680	broad.mit.edu	37	X	135574131	135574131	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135574131G>A	uc004ezv.1	+	c.797G>A	c.(796-798)CGA>CAA	p.R266Q		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	266	Cytoplasmic (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.333333	23.596344	24.184588	8	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135574131	135574131	1553	23	G	A	A	A	481	37	BRS3	1	1
ATP11C	286410	broad.mit.edu	37	X	138857046	138857046	+	Silent	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138857046G>A	uc004faz.2	-	c.2028C>T	c.(2026-2028)CTC>CTT	p.L676L	ATP11C_uc004fay.2_Non-coding_Transcript|ATP11C_uc004fba.2_Silent_p.L676L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	676	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)													0.111111	11.940996	28.073609	12	96	KEEP	---	---	---	---	capture		Silent	SNP	138857046	138857046	1140	23	G	A	A	A	574	45	ATP11C	2	2
CDR1	1038	broad.mit.edu	37	X	139866323	139866323	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139866323G>A	uc004fbg.1	-	c.209C>T	c.(208-210)TCG>TTG	p.S70L		NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	70	23 X 6 AA approximate repeats.|12.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)												0.155172	16.149322	22.728147	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139866323	139866323	3300	23	G	A	A	A	481	37	CDR1	1	1
MAGEC1	9947	broad.mit.edu	37	X	140993803	140993803	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140993803T>A	uc004fbt.2	+	c.613T>A	c.(613-615)TCC>ACC	p.S205T	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	205							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.168724	69.504004	94.798843	41	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140993803	140993803	9561	23	T	A	A	A	702	54	MAGEC1	3	3
MAGEA11	4110	broad.mit.edu	37	X	148797986	148797987	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148797986_148797987GG>TT	uc004fdq.2	+	c.840_841GG>TT	c.(838-843)AAGGAA>AATTAA	p.280_281KE>N*	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Nonsense_Mutation_p.251_252KE>N*	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	280_281	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.3	47.625642	49.770544	18	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	148797986	148797987	9542	23	GG	TT	TT	TT	451	35	MAGEA11	5	2
MAGEA8	4107	broad.mit.edu	37	X	149013508	149013508	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149013508C>T	uc004fdw.1	+	c.462C>T	c.(460-462)TTC>TTT	p.F154F		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	154	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.142857	8.671727	14.741576	7	42	KEEP	---	---	---	---	capture		Silent	SNP	149013508	149013508	9550	23	C	T	T	T	376	29	MAGEA8	2	2
GABRE	2564	broad.mit.edu	37	X	151123873	151123873	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151123873C>G	uc004ffi.2	-	c.1104G>C	c.(1102-1104)CAG>CAC	p.Q368H	GABRE_uc011myd.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	368	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.287129	83.434677	87.538964	29	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151123873	151123873	6421	23	C	G	G	G	415	32	GABRE	3	3
GABRA3	2556	broad.mit.edu	37	X	151376548	151376548	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151376548G>T	uc010ntk.1	-	c.703C>A	c.(703-705)CAG>AAG	p.Q235K		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	235	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	NSCLC(142;2578 2613 10251 16743)								0.375	71.983234	72.861565	24	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151376548	151376548	6413	23	G	T	T	T	624	48	GABRA3	2	2
ASMTL	8623	broad.mit.edu	37	X	1553973	1553973	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1553973C>A	uc004cpx.1	-	c.342G>T	c.(340-342)TTG>TTT	p.L114F	ASMTL_uc011mhe.1_Missense_Mutation_p.L38F|ASMTL_uc004cpy.1_Missense_Mutation_p.L98F|ASMTL_uc011mhf.1_Missense_Mutation_p.L56F	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	114	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				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)												0.264706	22.359338	24.061099	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1553973	1553973	1065	23	C	A	A	A	376	29	ASMTL	2	2
PHKA2	5256	broad.mit.edu	37	X	18943785	18943785	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18943785C>A	uc004cyv.3	-	c.1569_splice	c.e15+1	p.Q523_splice	PHKA2_uc010nfg.1_Splice_Site_SNP	NM_000292	NP_000283			phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.147727	22.419544	32.904484	13	75	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18943785	18943785	12268	23	C	A	A	A	234	18	PHKA2	5	2
FAM48B1	100130302	broad.mit.edu	37	X	24382733	24382733	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24382733G>T	uc011mjx.1	+	c.1856G>T	c.(1855-1857)GGA>GTA	p.G619V		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1														0.5	11.501409	11.501409	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24382733	24382733	5795	23	G	T	T	T	533	41	FAM48B1	2	2
ARSF	416	broad.mit.edu	37	X	2990082	2990082	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2990082C>T	uc004cre.1	+	c.27C>T	c.(25-27)TTC>TTT	p.F9F	ARSF_uc004crf.1_Silent_p.F9F	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	9						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.133333	8.535211	14.394249	6	39	KEEP	---	---	---	---	capture		Silent	SNP	2990082	2990082	1009	23	C	T	T	T	376	29	ARSF	2	2
MAGEB3	4114	broad.mit.edu	37	X	30254097	30254097	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30254097G>T	uc004dca.1	+	c.56G>T	c.(55-57)CGG>CTG	p.R19L		NM_002365	NP_002356	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	19											0														0.096774	2.609995	7.652988	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30254097	30254097	9558	23	G	T	T	T	507	39	MAGEB3	1	1
DMD	1756	broad.mit.edu	37	X	32715994	32715994	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32715994G>C	uc004dda.1	-	c.953C>G	c.(952-954)CCT>CGT	p.P318R	DMD_uc004dcz.2_Missense_Mutation_p.P195R|DMD_uc004dcy.1_Missense_Mutation_p.P314R|DMD_uc004ddb.1_Missense_Mutation_p.P310R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.P310R|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	318					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.529412	28.375834	28.388657	9	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32715994	32715994	4760	23	G	C	C	C	455	35	DMD	3	3
FTSJ1	24140	broad.mit.edu	37	X	48340055	48340055	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48340055G>T	uc004djm.2	+	c.607G>T	c.(607-609)GAG>TAG	p.E203*	FTSJ1_uc004djl.2_Nonsense_Mutation_p.E203*|FTSJ1_uc004djn.1_Nonsense_Mutation_p.E203*|FTSJ1_uc004djo.1_Nonsense_Mutation_p.E203*|FTSJ1_uc004djp.1_Nonsense_Mutation_p.E203*|FTSJ1_uc011mlw.1_Nonsense_Mutation_p.E66*	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	203					rRNA methylation		methyltransferase activity|nucleic acid binding				0														0.384615	14.635088	14.764157	5	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48340055	48340055	6338	23	G	T	T	T	481	37	FTSJ1	5	1
TFE3	7030	broad.mit.edu	37	X	48891690	48891690	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48891690G>A	uc004dmb.3	-	c.962C>T	c.(961-963)TCC>TTC	p.S321F	TFE3_uc004dmc.3_Missense_Mutation_p.S216F|TFE3_uc004dme.1_Non-coding_Transcript	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	321					humoral immune response|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm|nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197										48				0.222222	9.005304	10.272627	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48891690	48891690	16328	23	G	A	A	A	533	41	TFE3	2	2
AKAP4	8852	broad.mit.edu	37	X	49957746	49957746	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49957746G>T	uc004dow.1	-	c.1618C>A	c.(1618-1620)CTG>ATG	p.L540M	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.L362M|AKAP4_uc004dou.1_Missense_Mutation_p.L531M	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	540					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.156627	24.92042	34.260465	13	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49957746	49957746	456	23	G	T	T	T	464	36	AKAP4	2	2
KDM5C	8242	broad.mit.edu	37	X	53222385	53222385	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53222385G>A	uc004drz.2	-	c.4447C>T	c.(4447-4449)CGG>TGG	p.R1483W	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.R1482W	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1483					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.185714	24.965477	31.425231	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53222385	53222385	8441	23	G	A	A	A	519	40	KDM5C	1	1
MTMR8	55613	broad.mit.edu	37	X	63488886	63488886	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63488886C>T	uc004dvs.2	-	c.1646G>A	c.(1645-1647)TGT>TAT	p.C549Y	MTMR8_uc011mou.1_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	549						nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4														0.263158	23.029819	24.960242	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63488886	63488886	10342	23	C	T	T	T	221	17	MTMR8	2	2
DIAPH2	1730	broad.mit.edu	37	X	96213115	96213115	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:96213115G>T	uc004efu.3	+	c.1903G>T	c.(1903-1905)GAA>TAA	p.E635*	DIAPH2_uc004eft.3_Nonsense_Mutation_p.E635*	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	635	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.347826	23.193316	23.663302	8	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96213115	96213115	4698	23	G	T	T	T	585	45	DIAPH2	5	2
NLGN4Y	22829	broad.mit.edu	37	Y	16952929	16952929	+	Silent	SNP	G	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:16952929G>T	uc011nas.1	+	c.2298G>T	c.(2296-2298)CTG>CTT	p.L766L	NLGN4Y_uc004fte.2_Silent_p.L578L|NLGN4Y_uc004ftg.2_Silent_p.L746L|NLGN4Y_uc004ftf.2_Silent_p.L439L|NLGN4Y_uc004fth.2_Silent_p.L746L	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	746	Cytoplasmic (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of synaptic transmission|social behavior|territorial aggressive behavior|vocalization behavior	integral to membrane|plasma membrane|synapse	carboxylesterase activity|protein binding				0														0.589286	101.780146	102.169716	33	23	KEEP	---	---	---	---	capture		Silent	SNP	16952929	16952929	10868	24	G	T	T	T	587	46	NLGN4Y	2	2
TGIF2LY	90655	broad.mit.edu	37	Y	3447318	3447318	+	Silent	SNP	C	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:3447318C>T	uc004fqk.2	+	c.33C>T	c.(31-33)ACC>ACT	p.T11T		NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	11					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.571429	26.702195	26.764536	8	6	KEEP	---	---	---	---	capture		Silent	SNP	3447318	3447318	16356	24	C	T	T	T	275	22	TGIF2LY	2	2
AMELY	266	broad.mit.edu	37	Y	6736466	6736466	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:6736466A>T	uc004fra.1	-	c.227T>A	c.(226-228)CTG>CAG	p.L76Q	AMELY_uc004fqz.2_Missense_Mutation_p.L62Q	NM_001143	NP_001134	Q99218	AMELY_HUMAN	amelogenin, Y-linked precursor	76					biomineral tissue development	extracellular matrix part|proteinaceous extracellular matrix	structural constituent of tooth enamel				0														0.610169	110.292529	110.916775	36	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6736466	6736466	573	24	A	T	T	T	91	7	AMELY	3	3
SOLH	6650	broad.mit.edu	37	16	599091	599098	+	Frame_Shift_Del	DEL	GCGACCCC	-	-			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:599091_599098delGCGACCCC	uc002chi.2	+	c.1548_1555delGCGACCCC	c.(1546-1557)CTGCGACCCCAGfs	p.L516fs		NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	516_519	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Hepatocellular(780;0.00335)												0.40			4	6		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	599091	599098	15425	16	GCGACCCC	-	-	-	587	46	SOLH	5	5
CNGA2	1260	broad.mit.edu	37	X	150911689	150911689	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z026-01	TCGA-17-Z026-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150911689_150911689delG	uc004fey.1	+	c.714_714delG	c.(712-714)GTGfs	p.V238fs		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	238	Helical; Name=H3; (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)													0.54			43	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	150911689	150911689	3735	23	G	-	-	-	600	47	CNGA2	5	5
