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
DMBT1	1755	broad.mit.edu	37	10	124377722	124377722	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124377722G>T	uc001lgk.1	+	c.4694G>T	c.(4693-4695)GGC>GTC	p.G1565V	DMBT1_uc001lgl.1_Missense_Mutation_p.G1555V|DMBT1_uc001lgm.1_Missense_Mutation_p.G937V|DMBT1_uc009xzz.1_Missense_Mutation_p.G1565V|DMBT1_uc010qtx.1_Missense_Mutation_p.G416V|DMBT1_uc009yab.1_Missense_Mutation_p.G268V|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1565	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				Ovarian(182;93 2026 18125 22222 38972)								0.206349	80.152926	95.241138	39	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124377722	124377722	4757	10	G	T	T	T	546	42	DMBT1	2	2
PTER	9317	broad.mit.edu	37	10	16526805	16526805	+	Nonsense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16526805C>G	uc001iog.1	+	c.422C>G	c.(421-423)TCA>TGA	p.S141*	PTER_uc001ioh.1_Nonsense_Mutation_p.S141*|PTER_uc001ioi.1_Nonsense_Mutation_p.S141*|PTER_uc009xjp.1_Nonsense_Mutation_p.S141*	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	141					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						Ovarian(2;46 150 15648 38137 47908)								0.212121	18.906439	21.434345	7	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	16526805	16526805	13193	10	C	G	G	G	377	29	PTER	5	3
ST8SIA6	338596	broad.mit.edu	37	10	17363044	17363044	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17363044A>T	uc001ipd.2	-	c.1030T>A	c.(1030-1032)TGG>AGG	p.W344R	ST8SIA6_uc010qce.1_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	344	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1														0.242718	53.332085	59.545187	25	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17363044	17363044	15754	10	A	T	T	T	91	7	ST8SIA6	3	3
STAM	8027	broad.mit.edu	37	10	17737220	17737220	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17737220T>G	uc001ipj.1	+	c.708T>G	c.(706-708)ATT>ATG	p.I236M	STAM_uc010qcf.1_Missense_Mutation_p.I125M|STAM_uc009xjw.1_De_novo_Start_OutOfFrame	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	236	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2														0.32	24.094628	24.812454	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17737220	17737220	15767	10	T	G	G	G	783	61	STAM	4	4
GAD2	2572	broad.mit.edu	37	10	26559610	26559610	+	Silent	SNP	C	A	A	rs1805397	byFrequency;by1000genomes	TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26559610C>A	uc001isp.2	+	c.1017C>A	c.(1015-1017)ACC>ACA	p.T339T	GAD2_uc001isq.2_Silent_p.T339T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	339					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.132075	18.333038	32.229066	14	92	KEEP	---	---	---	---	capture		Silent	SNP	26559610	26559610	6431	10	C	A	A	A	288	23	GAD2	1	1
PARD3	56288	broad.mit.edu	37	10	34400356	34400356	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:34400356C>A	uc010qej.1	-	c.3812G>T	c.(3811-3813)GGA>GTA	p.G1271V	PARD3_uc010qek.1_Missense_Mutation_p.G1268V|PARD3_uc010qel.1_Missense_Mutation_p.G1234V|PARD3_uc010qem.1_Missense_Mutation_p.G1255V|PARD3_uc010qen.1_Missense_Mutation_p.G1225V|PARD3_uc010qeo.1_Missense_Mutation_p.G1188V|PARD3_uc010qep.1_Missense_Mutation_p.G1181V|PARD3_uc010qeq.1_Missense_Mutation_p.G1159V	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	1271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)												0.244898	23.973519	26.88141	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34400356	34400356	11860	10	C	A	A	A	390	30	PARD3	2	2
PCDH15	65217	broad.mit.edu	37	10	55782832	55782832	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55782832C>A	uc010qhy.1	-	c.2361G>T	c.(2359-2361)AGG>AGT	p.R787S	PCDH15_uc010qhq.1_Missense_Mutation_p.R787S|PCDH15_uc010qhr.1_Missense_Mutation_p.R782S|PCDH15_uc010qhs.1_Missense_Mutation_p.R794S|PCDH15_uc010qht.1_Missense_Mutation_p.R789S|PCDH15_uc010qhu.1_Missense_Mutation_p.R782S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R782S|PCDH15_uc010qhw.1_Missense_Mutation_p.R745S|PCDH15_uc010qhx.1_Missense_Mutation_p.R711S|PCDH15_uc010qhz.1_Missense_Mutation_p.R782S|PCDH15_uc010qia.1_Missense_Mutation_p.R760S|PCDH15_uc001jju.1_Missense_Mutation_p.R782S|PCDH15_uc010qib.1_Missense_Mutation_p.R760S|PCDH15_uc001jjw.2_Missense_Mutation_p.R782S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	782	Extracellular (Potential).|Cadherin 7.				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				0.157895	7.327033	11.570604	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55782832	55782832	11931	10	C	A	A	A	285	22	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	55996585	55996585	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55996585A>T	uc010qhy.1	-	c.998T>A	c.(997-999)GTT>GAT	p.V333D	PCDH15_uc010qhq.1_Missense_Mutation_p.V333D|PCDH15_uc010qhr.1_Missense_Mutation_p.V328D|PCDH15_uc010qhs.1_Missense_Mutation_p.V333D|PCDH15_uc010qht.1_Missense_Mutation_p.V328D|PCDH15_uc010qhu.1_Missense_Mutation_p.V328D|PCDH15_uc001jjv.1_Missense_Mutation_p.V306D|PCDH15_uc010qhv.1_Missense_Mutation_p.V328D|PCDH15_uc010qhw.1_Missense_Mutation_p.V291D|PCDH15_uc010qhx.1_Missense_Mutation_p.V328D|PCDH15_uc010qhz.1_Missense_Mutation_p.V328D|PCDH15_uc010qia.1_Missense_Mutation_p.V306D|PCDH15_uc001jju.1_Missense_Mutation_p.V328D|PCDH15_uc010qib.1_Missense_Mutation_p.V306D|PCDH15_uc001jjw.2_Missense_Mutation_p.V328D	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	328	Cadherin 3.|Extracellular (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				0.339623	43.732615	44.938239	18	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55996585	55996585	11931	10	A	T	T	T	26	2	PCDH15	3	3
ZNF365	22891	broad.mit.edu	37	10	64136074	64136074	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64136074C>T	uc001jmc.2	+	c.122C>T	c.(121-123)TCA>TTA	p.S41L	ZNF365_uc001jly.3_Missense_Mutation_p.S56L|ZNF365_uc001jmb.3_Missense_Mutation_p.S41L|ZNF365_uc001jlz.3_Missense_Mutation_p.S41L|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)	1	Prostate(12;0.0297)|all_hematologic(501;0.228)													0.272727	39.215802	42.292904	18	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64136074	64136074	18461	10	C	T	T	T	377	29	ZNF365	2	2
ITIH5	80760	broad.mit.edu	37	10	7708826	7708826	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7708826C>A	uc001ijq.2	-	c.30G>T	c.(28-30)GGG>GGT	p.G10G	ITIH5_uc001ijr.1_Silent_p.G10G	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	10					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.375	11.522822	11.750062	6	10	KEEP	---	---	---	---	capture		Silent	SNP	7708826	7708826	8211	10	C	A	A	A	327	26	ITIH5	2	2
BTAF1	9044	broad.mit.edu	37	10	93773549	93773549	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93773549T>A	uc001khr.2	+	c.4437T>A	c.(4435-4437)AGT>AGA	p.S1479R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1479					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0846)												0.170213	11.396092	16.222193	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93773549	93773549	1568	10	T	A	A	A	751	58	BTAF1	3	3
PLCE1	51196	broad.mit.edu	37	10	96064273	96064273	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96064273G>A	uc001kjk.2	+	c.5493G>A	c.(5491-5493)GAG>GAA	p.E1831E	PLCE1_uc010qnx.1_Silent_p.E1815E|PLCE1_uc001kjm.2_Silent_p.E1523E|PLCE1_uc001kjp.2_Silent_p.E189E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1831	PI-PLC Y-box.				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)												0.387097	107.178904	108.217654	36	57	KEEP	---	---	---	---	capture		Silent	SNP	96064273	96064273	12460	10	G	A	A	A	451	35	PLCE1	2	2
ATM	472	broad.mit.edu	37	11	108115735	108115735	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108115735G>C	uc001pkb.1	+	c.883G>C	c.(883-885)GCC>CCC	p.A295P	ATM_uc009yxr.1_Missense_Mutation_p.A295P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	295					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)						1073	TSP Lung(14;0.12)			0.454545	35.048553	35.088047	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108115735	108115735	1128	11	G	C	C	C	442	34	ATM	3	3
ATM	472	broad.mit.edu	37	11	108186770	108186770	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108186770G>T	uc001pkb.1	+	c.6128G>T	c.(6127-6129)GGC>GTC	p.G2043V	ATM_uc009yxr.1_Missense_Mutation_p.G2043V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G695V|ATM_uc001pkg.1_Missense_Mutation_p.G400V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2043	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)						1073	TSP Lung(14;0.12)			0.5	37.772396	37.772396	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108186770	108186770	1128	11	G	T	T	T	546	42	ATM	2	2
NLRX1	79671	broad.mit.edu	37	11	119045416	119045416	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119045416C>G	uc001pvu.2	+	c.1104C>G	c.(1102-1104)TGC>TGG	p.C368W	NLRX1_uc010rzc.1_Missense_Mutation_p.C190W|NLRX1_uc001pvv.2_Missense_Mutation_p.C368W|NLRX1_uc001pvw.2_Missense_Mutation_p.C368W|NLRX1_uc001pvx.2_Missense_Mutation_p.C368W	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	368	Required for interaction with MAVS.|NACHT.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)	1	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)										0.186047	15.675115	19.649692	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119045416	119045416	10888	11	C	G	G	G	363	28	NLRX1	3	3
CCDC73	493860	broad.mit.edu	37	11	32635190	32635190	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32635190C>A	uc001mtv.2	-	c.2674G>T	c.(2674-2676)GAT>TAT	p.D892Y		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	892										ovary(1)	1	Breast(20;0.112)													0.166667	16.077992	23.040044	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32635190	32635190	2969	11	C	A	A	A	416	32	CCDC73	2	2
OR51A2	401667	broad.mit.edu	37	11	4976851	4976851	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4976851G>C	uc010qyt.1	-	c.93C>G	c.(91-93)ATC>ATG	p.I31M		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.230769	22.246713	24.846006	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4976851	4976851	11496	11	G	C	C	C	525	41	OR51A2	3	3
OR51Q1	390061	broad.mit.edu	37	11	5443842	5443842	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5443842C>A	uc010qzd.1	+	c.412C>A	c.(412-414)CTC>ATC	p.L138I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.55914	134.368486	134.647145	52	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5443842	5443842	11514	11	C	A	A	A	312	24	OR51Q1	2	2
OR4C16	219428	broad.mit.edu	37	11	55340015	55340015	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55340015G>T	uc010rih.1	+	c.412G>T	c.(412-414)GTC>TTC	p.V138F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.213333	29.434324	35.162134	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55340015	55340015	11455	11	G	T	T	T	572	44	OR4C16	2	2
OR5W2	390148	broad.mit.edu	37	11	55682036	55682036	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55682036G>T	uc010rir.1	-	c.23C>A	c.(22-24)TCA>TAA	p.S8*		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.222222	7.48794	8.768471	4	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55682036	55682036	11595	11	G	T	T	T	585	45	OR5W2	5	2
OR5A1	219982	broad.mit.edu	37	11	59211049	59211049	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59211049C>A	uc001nnx.1	+	c.408C>A	c.(406-408)CCC>CCA	p.P136P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.395833	159.430233	160.800782	57	87	KEEP	---	---	---	---	capture		Silent	SNP	59211049	59211049	11549	11	C	A	A	A	262	21	OR5A1	2	2
SNX32	254122	broad.mit.edu	37	11	65618622	65618622	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65618622G>C	uc001ofr.2	+	c.700G>C	c.(700-702)GCC>CCC	p.A234P		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	234					cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)								OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.189189	33.795682	40.500448	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65618622	65618622	15402	11	G	C	C	C	494	38	SNX32	3	3
CCDC87	55231	broad.mit.edu	37	11	66358704	66358704	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66358704C>A	uc001oiq.3	-	c.1783G>T	c.(1783-1785)GAT>TAT	p.D595Y	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	595										ovary(1)	1														0.790323	277.172578	286.831205	98	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66358704	66358704	2987	11	C	A	A	A	390	30	CCDC87	2	2
PC	5091	broad.mit.edu	37	11	66620019	66620019	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66620019G>A	uc001ojn.1	-	c.1716C>T	c.(1714-1716)GAC>GAT	p.D572D	PC_uc001ojo.1_Silent_p.D572D|PC_uc001ojp.1_Silent_p.D572D|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	572	Carboxyltransferase.|Substrate binding.	Manganese.			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)									0.171429	16.256964	23.408375	12	58	KEEP	---	---	---	---	capture		Silent	SNP	66620019	66620019	11917	11	G	A	A	A	516	40	PC	1	1
RPH3A	22895	broad.mit.edu	37	12	113333615	113333615	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113333615G>A	uc010syl.1	+	c.1891G>A	c.(1891-1893)GCA>ACA	p.A631T	RPH3A_uc001ttz.2_Missense_Mutation_p.A631T|RPH3A_uc001tty.2_Missense_Mutation_p.A627T|RPH3A_uc010sym.1_Missense_Mutation_p.A582T|RPH3A_uc001tua.2_Missense_Mutation_p.A391T	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	631	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(302;0.00453)										0.23913	24.300314	27.160486	11	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113333615	113333615	14030	12	G	A	A	A	546	42	RPH3A	2	2
GCN1L1	10985	broad.mit.edu	37	12	120595817	120595817	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120595817C>A	uc001txo.2	-	c.2923G>T	c.(2923-2925)GCG>TCG	p.A975S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	975					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(3)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.5	72.200446	72.200446	24	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120595817	120595817	6565	12	C	A	A	A	351	27	GCN1L1	1	1
PIWIL1	9271	broad.mit.edu	37	12	130839197	130839197	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130839197G>T	uc001uik.2	+	c.1160G>T	c.(1159-1161)TGC>TTC	p.C387F	PIWIL1_uc001uij.1_Missense_Mutation_p.C387F	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	387	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)										0.415094	59.741505	60.074287	22	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130839197	130839197	12381	12	G	T	T	T	598	46	PIWIL1	2	2
GALNT9	50614	broad.mit.edu	37	12	132682499	132682499	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132682499C>A	uc001ukc.3	-	c.1503G>T	c.(1501-1503)GTG>GTT	p.V501V	GALNT9_uc009zyr.2_Silent_p.V275V|GALNT9_uc001ukb.2_Silent_p.V358V|GALNT9_uc001uka.2_Silent_p.V135V	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	501	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		Colon(186;2147 2752 13553 41466)								0.588235	28.749816	28.864861	10	7	KEEP	---	---	---	---	capture		Silent	SNP	132682499	132682499	6484	12	C	A	A	A	314	25	GALNT9	2	2
PIK3C2G	5288	broad.mit.edu	37	12	18435041	18435041	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18435041C>A	uc010sib.1	+	c.26C>A	c.(25-27)CCA>CAA	p.P9Q	PIK3C2G_uc001rdt.2_Missense_Mutation_p.P9Q|PIK3C2G_uc010sia.1_Non-coding_Transcript|PIK3C2G_uc010sic.1_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	9					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				0.545455	15.547762	15.567242	6	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18435041	18435041	12335	12	C	A	A	A	273	21	PIK3C2G	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.642857	25.675827	25.926711	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
C12orf11	55726	broad.mit.edu	37	12	27070649	27070649	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:27070649C>A	uc001rhk.3	-	c.907G>T	c.(907-909)GGC>TGC	p.G303C	C12orf11_uc001rhj.3_5'UTR|C12orf11_uc010sjk.1_Missense_Mutation_p.G202C	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	303					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)													0.4	25.540906	25.760631	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27070649	27070649	1719	12	C	A	A	A	273	21	C12orf11	2	2
ADCY6	112	broad.mit.edu	37	12	49171215	49171216	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49171215_49171216GC>AA	uc001rsh.3	-	c.1225_1226GC>TT	c.(1225-1227)GCC>TTC	p.A409F	ADCY6_uc001rsj.3_Missense_Mutation_p.A409F|ADCY6_uc001rsi.3_Missense_Mutation_p.A409F|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	409	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.515152	98.257411	98.271127	34	32	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	49171215	49171216	299	12	GC	AA	AA	AA	546	42	ADCY6	2	2
DCD	117159	broad.mit.edu	37	12	55039440	55039440	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55039440C>T	uc001sgj.2	-	c.149G>A	c.(148-150)GGG>GAG	p.G50E	DCD_uc009znt.2_Missense_Mutation_p.G50E|DCD_uc009znu.2_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	50					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)												0.526316	62.700553	62.723335	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55039440	55039440	4454	12	C	T	T	T	286	22	DCD	2	2
OR10A7	121364	broad.mit.edu	37	12	55615680	55615680	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55615680G>T	uc010spf.1	+	c.872G>T	c.(871-873)GGC>GTC	p.G291V		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4														0.25	29.92278	33.105807	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55615680	55615680	11301	12	G	T	T	T	546	42	OR10A7	2	2
TMEM194A	23306	broad.mit.edu	37	12	57457866	57457866	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57457866G>A	uc001smy.2	-	c.742C>T	c.(742-744)CAG>TAG	p.Q248*	TMEM194A_uc001smx.2_Nonsense_Mutation_p.Q175*|TMEM194A_uc010sra.1_Intron	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	248	Helical; (Potential).					integral to membrane					0														0.25	6.218124	6.900909	3	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57457866	57457866	16650	12	G	A	A	A	598	46	TMEM194A	5	2
KLRF1	51348	broad.mit.edu	37	12	9985974	9985974	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9985974T>C	uc010sgw.1	+	c.260T>C	c.(259-261)CTA>CCA	p.L87P	KLRF1_uc009zgw.2_Intron|KLRF1_uc009zgx.2_Non-coding_Transcript|KLRF1_uc001qwm.2_Non-coding_Transcript|KLRF1_uc009zgy.2_Intron|KLRF1_uc009zgz.2_Missense_Mutation_p.L87P|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F,	87	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1														0.45	60.448773	60.535309	18	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9985974	9985974	8734	12	T	C	C	C	689	53	KLRF1	4	4
MYO16	23026	broad.mit.edu	37	13	109535429	109535429	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109535429C>A	uc010agk.1	+	c.1448C>A	c.(1447-1449)TCC>TAC	p.S483Y	MYO16_uc001vqt.1_Missense_Mutation_p.S461Y|MYO16_uc001vqu.1_Missense_Mutation_p.S261Y	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	461	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.523364	146.473216	146.522596	56	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109535429	109535429	10459	13	C	A	A	A	390	30	MYO16	2	2
MTUS2	23281	broad.mit.edu	37	13	29598927	29598927	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29598927G>C	uc001usl.3	+	c.122G>C	c.(121-123)AGT>ACT	p.S41T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	31						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0										344				0.384615	32.045156	32.348198	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29598927	29598927	10359	13	G	C	C	C	468	36	MTUS2	3	3
C14orf68	283600	broad.mit.edu	37	14	100795911	100795911	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100795911T>G	uc001yhc.2	+	c.856T>G	c.(856-858)TTC>GTC	p.F286V	C14orf68_uc001yhd.2_Missense_Mutation_p.F140V	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	286	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)												0.164384	19.35951	27.167063	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100795911	100795911	1828	14	T	G	G	G	728	56	C14orf68	4	4
C14orf68	283600	broad.mit.edu	37	14	100795933	100795933	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100795933T>G	uc001yhc.2	+	c.878T>G	c.(877-879)TTC>TGC	p.F293C	C14orf68_uc001yhd.2_Missense_Mutation_p.F147C	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	293	Helical; Name=6; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)												0.193548	30.876799	36.300595	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100795933	100795933	1828	14	T	G	G	G	806	62	C14orf68	4	4
RAGE	5891	broad.mit.edu	37	14	102717219	102717219	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102717219G>A	uc001ylm.2	-	c.520C>T	c.(520-522)CTC>TTC	p.L174F	RAGE_uc010txv.1_Missense_Mutation_p.L144F|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	174	Protein kinase.				protein phosphorylation|signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4										361				0.3	40.102758	41.891531	15	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102717219	102717219	13466	14	G	A	A	A	455	35	RAGE	2	2
BTBD6	90135	broad.mit.edu	37	14	105716678	105716678	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105716678A>G	uc010tyq.1	+	c.1127A>G	c.(1126-1128)TAT>TGT	p.Y376C	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc010axg.1_Intron|BRF1_uc001yqp.2_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	BTB domain protein BDPL	376						cytoplasmic mRNA processing body					0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)										0.25	21.190066	23.00479	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105716678	105716678	1579	14	A	G	G	G	208	16	BTBD6	4	4
CHD8	57680	broad.mit.edu	37	14	21868347	21868347	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21868347C>A	uc001was.1	-	c.3853G>T	c.(3853-3855)GAA>TAA	p.E1285*	CHD8_uc001war.1_Nonsense_Mutation_p.E1181*|SNORD8_uc001wau.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1564					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|chromatin assembly or disassembly|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	chromatin|MLL1 complex	ATP binding|beta-catenin binding|chromatin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding|transcription activator activity|transcription repressor activity			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)						886				0.191489	15.242714	19.428523	9	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21868347	21868347	3465	14	C	A	A	A	377	29	CHD8	5	2
TOX4	9878	broad.mit.edu	37	14	21955827	21955827	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21955827G>T	uc001waz.2	+	c.293G>T	c.(292-294)GGG>GTG	p.G98V	TOX4_uc001way.2_5'UTR|TOX4_uc001wba.2_Non-coding_Transcript|TOX4_uc010tlu.1_Missense_Mutation_p.G75V|TOX4_uc010tlv.1_Intron	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	98						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)										0.128205	7.719679	18.216515	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21955827	21955827	16922	14	G	T	T	T	559	43	TOX4	2	2
OR4E2	26686	broad.mit.edu	37	14	22133769	22133770	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22133769_22133770GG>TT	uc010tmd.1	+	c.473_474GG>TT	c.(472-474)GGG>GTT	p.G158V		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	158	Helical; Name=4; (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				0.196078	37.956037	46.731466	20	82	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	22133769	22133770	11467	14	GG	TT	TT	TT	559	43	OR4E2	2	2
CGRRF1	10668	broad.mit.edu	37	14	55004904	55004904	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55004904G>T	uc001xay.2	+	c.802G>T	c.(802-804)GAA>TAA	p.E268*	CGRRF1_uc001xaz.2_Non-coding_Transcript	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	268					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1														0.136364	6.216051	11.856777	6	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55004904	55004904	3439	14	G	T	T	T	533	41	CGRRF1	5	2
LTBP2	4053	broad.mit.edu	37	14	74999213	74999213	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74999213C>G	uc001xqa.2	-	c.1903G>C	c.(1903-1905)GCG>CCG	p.A635P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	635	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.321429	26.065664	26.858435	9	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74999213	74999213	9450	14	C	G	G	G	351	27	LTBP2	3	3
MKRN3	7681	broad.mit.edu	37	15	23811332	23811332	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811332C>A	uc001ywh.3	+	c.403C>A	c.(403-405)CCT>ACT	p.P135T	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.P135T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	135						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.34	40.65449	41.788414	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23811332	23811332	9998	15	C	A	A	A	338	26	MKRN3	2	2
DUOX2	50506	broad.mit.edu	37	15	45394000	45394000	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45394000C>A	uc010bea.2	-	c.2842G>T	c.(2842-2844)GGT>TGT	p.G948C	DUOX2_uc001zun.2_Missense_Mutation_p.G948C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	948	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|pancreas(1)	3		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)										0.185185	7.156781	9.67033	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45394000	45394000	4986	15	C	A	A	A	312	24	DUOX2	2	2
MYO5C	55930	broad.mit.edu	37	15	52539167	52539167	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52539167C>A	uc010bff.2	-	c.1926G>T	c.(1924-1926)ACG>ACT	p.T642T	MYO5C_uc010uga.1_Non-coding_Transcript|MYO5C_uc010ugb.1_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	642	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(1)	13				all cancers(107;0.0137)										0.208333	9.960919	11.853118	5	19	KEEP	---	---	---	---	capture		Silent	SNP	52539167	52539167	10475	15	C	A	A	A	392	31	MYO5C	1	1
KIAA1370	56204	broad.mit.edu	37	15	52902417	52902417	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52902417T>C	uc010ugf.1	-	c.715A>G	c.(715-717)AAT>GAT	p.N239D	KIAA1370_uc002acg.3_Missense_Mutation_p.N232D|KIAA1370_uc002ach.3_Non-coding_Transcript|KIAA1370_uc010bfg.1_Missense_Mutation_p.N144D	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	232											0				all cancers(107;0.0803)										0.155556	12.998868	18.097789	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52902417	52902417	8535	15	T	C	C	C	793	61	KIAA1370	4	4
UNC13C	440279	broad.mit.edu	37	15	54307398	54307398	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54307398G>T	uc002ack.2	+	c.2298G>T	c.(2296-2298)TTG>TTT	p.L766F		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	766					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.363636	9.894003	10.075095	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54307398	54307398	17544	15	G	T	T	T	594	46	UNC13C	2	2
SNX33	257364	broad.mit.edu	37	15	75942210	75942210	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75942210C>G	uc002bau.2	+	c.767C>G	c.(766-768)CCC>CGC	p.P256R	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	256	PX.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1														0.404494	100.538348	101.258634	36	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75942210	75942210	15403	15	C	G	G	G	286	22	SNX33	3	3
NTRK3	4916	broad.mit.edu	37	15	88476321	88476321	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:88476321T>A	uc002bme.1	-	c.1811A>T	c.(1810-1812)TAT>TTT	p.Y604F	NTRK3_uc002bmh.2_Missense_Mutation_p.Y596F|NTRK3_uc002bmf.1_Missense_Mutation_p.Y604F|NTRK3_uc010upl.1_Missense_Mutation_p.Y506F|NTRK3_uc010bnh.1_Missense_Mutation_p.Y596F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	604	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(13)|ovary(5)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)	259			BRCA - Breast invasive adenocarcinoma(143;0.211)						p.Y604C(CCK81-Tumor)	506	TSP Lung(13;0.10)			0.242424	18.189554	20.182234	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88476321	88476321	11113	15	T	A	A	A	637	49	NTRK3	3	3
CACNA1H	8912	broad.mit.edu	37	16	1260867	1260867	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1260867G>T	uc002cks.2	+	c.4119G>T	c.(4117-4119)CTG>CTT	p.L1373L	CACNA1H_uc002ckt.2_Silent_p.L1373L|CACNA1H_uc002cku.2_Silent_p.L79L|CACNA1H_uc010brj.2_Silent_p.L79L|CACNA1H_uc002ckv.2_Silent_p.L79L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1373	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.148936	8.194354	13.756277	7	40	KEEP	---	---	---	---	capture		Silent	SNP	1260867	1260867	2661	16	G	T	T	T	600	47	CACNA1H	2	2
ABCC6	368	broad.mit.edu	37	16	16284195	16284195	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:16284195C>A	uc002den.3	-	c.1461G>T	c.(1459-1461)CGG>CGT	p.R487R	ABCC6_uc010bvo.2_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.R499R	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	487	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)										0.131148	6.874667	14.937921	8	53	KEEP	---	---	---	---	capture		Silent	SNP	16284195	16284195	58	16	C	A	A	A	275	22	ABCC6	2	2
GPR139	124274	broad.mit.edu	37	16	20043689	20043689	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20043689G>T	uc002dgu.1	-	c.430C>A	c.(430-432)CGC>AGC	p.R144S	GPR139_uc010vaw.1_Missense_Mutation_p.R51S	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	144	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2														0.241379	46.334783	51.642468	21	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20043689	20043689	6922	16	G	T	T	T	507	39	GPR139	1	1
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20442600G>T	uc002dhe.2	+	c.1265G>T	c.(1264-1266)CGT>CTT	p.R422L		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.130841	18.982157	33.158891	14	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20442600	20442600	188	16	G	T	T	T	520	40	ACSM5	1	1
CORO1A	11151	broad.mit.edu	37	16	30198429	30198429	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30198429T>C	uc002dww.2	+	c.521T>C	c.(520-522)GTG>GCG	p.V174A	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_3'UTR|CORO1A_uc010bzq.2_Missense_Mutation_p.V174A|CORO1A_uc010bzr.2_Missense_Mutation_p.V174A|CORO1A_uc002dwx.2_Missense_Mutation_p.V68A|CORO1A_uc002dwy.1_Missense_Mutation_p.V18A|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	174	WD 4.				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0														0.132075	9.205574	16.164463	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30198429	30198429	3891	16	T	C	C	C	767	59	CORO1A	4	4
ITGAX	3687	broad.mit.edu	37	16	31374029	31374029	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31374029G>C	uc002ebt.2	+	c.1314G>C	c.(1312-1314)CAG>CAC	p.Q438H	ITGAX_uc002ebu.1_Missense_Mutation_p.Q438H|ITGAX_uc010vfk.1_Missense_Mutation_p.Q88H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	438	FG-GAP 4.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.25	15.036827	16.401774	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31374029	31374029	8193	16	G	C	C	C	451	35	ITGAX	3	3
ITGAD	3681	broad.mit.edu	37	16	31427913	31427913	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31427913G>T	uc010cap.1	+	c.2448G>T	c.(2446-2448)GTG>GTT	p.V816V	ITGAD_uc002ebv.1_Silent_p.V815V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	815	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.321839	62.071142	64.523342	28	59	KEEP	---	---	---	---	capture		Silent	SNP	31427913	31427913	8188	16	G	T	T	T	600	47	ITGAD	2	2
CDH8	1006	broad.mit.edu	37	16	61854900	61854900	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61854900C>A	uc002eog.1	-	c.953G>T	c.(952-954)GGA>GTA	p.G318V	CDH8_uc002eoh.2_Missense_Mutation_p.G87V	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	318	Extracellular (Potential).|Cadherin 3.				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)										0.147059	5.851928	9.924199	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61854900	61854900	3245	16	C	A	A	A	390	30	CDH8	2	2
EDC4	23644	broad.mit.edu	37	16	67918040	67918040	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67918040A>T	uc002eur.2	+	c.4195A>T	c.(4195-4197)AGC>TGC	p.S1399C	EDC4_uc010cer.2_Missense_Mutation_p.S1018C|EDC4_uc002eus.2_Missense_Mutation_p.S1129C|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1399					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)								OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	8.38434	8.685417	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67918040	67918040	5095	16	A	T	T	T	91	7	EDC4	3	3
PMFBP1	83449	broad.mit.edu	37	16	72184552	72184552	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72184552G>A	uc002fcc.3	-	c.591C>T	c.(589-591)TGC>TGT	p.C197C	PMFBP1_uc002fcd.2_Silent_p.C197C|PMFBP1_uc002fce.2_Non-coding_Transcript|PMFBP1_uc002fcf.2_Silent_p.C52C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	197	Potential.									ovary(1)	1		Ovarian(137;0.179)												0.183486	34.46015	44.69397	20	89	KEEP	---	---	---	---	capture		Silent	SNP	72184552	72184552	12560	16	G	A	A	A	542	42	PMFBP1	2	2
CDYL2	124359	broad.mit.edu	37	16	80642134	80642134	+	Splice_Site_SNP	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:80642134T>A	uc002ffs.2	-	c.1219_splice	c.e6-1	p.A407_splice		NM_152342	NP_689555			chromodomain protein, Y-like 2						chromatin assembly or disassembly	chromatin|nucleus	catalytic activity|chromatin binding|protein binding			central_nervous_system(1)	1														0.333333	7.422132	7.643472	3	6	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	80642134	80642134	3319	16	T	A	A	A	715	55	CDYL2	5	3
KLHDC4	54758	broad.mit.edu	37	16	87742994	87742994	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:87742994C>T	uc002fki.2	-	c.1324G>A	c.(1324-1326)GGG>AGG	p.G442R	KLHDC4_uc002fkh.1_Non-coding_Transcript|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G411R|KLHDC4_uc002fkk.2_Missense_Mutation_p.G261R|KLHDC4_uc002fkl.2_Missense_Mutation_p.G385R|KLHDC4_uc010chu.1_Missense_Mutation_p.G261R	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	442										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)										0.34	39.655193	40.788738	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87742994	87742994	8670	16	C	T	T	T	273	21	KLHDC4	2	2
ZC3H18	124245	broad.mit.edu	37	16	88644074	88644074	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:88644074G>A	uc010voz.1	+	c.543G>A	c.(541-543)GAG>GAA	p.E181E	ZC3H18_uc010voy.1_Intron|ZC3H18_uc002fky.2_Silent_p.E181E|ZC3H18_uc010vpa.1_Silent_p.E181E	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	181						nucleus	nucleic acid binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0542)		Ovarian(121;375 2276 20373 38669)								0.2	10.65943	12.753298	5	20	KEEP	---	---	---	---	capture		Silent	SNP	88644074	88644074	18156	16	G	A	A	A	451	35	ZC3H18	2	2
MYH1	4619	broad.mit.edu	37	17	10415291	10415291	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10415291C>A	uc002gmo.2	-	c.1281G>T	c.(1279-1281)GTG>GTT	p.V427V		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	427	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.13986	18.575117	36.558483	20	123	KEEP	---	---	---	---	capture		Silent	SNP	10415291	10415291	10424	17	C	A	A	A	262	21	MYH1	2	2
SREBF1	6720	broad.mit.edu	37	17	17722973	17722973	+	Missense_Mutation	SNP	G	T	T	rs114001633	by1000genomes	TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17722973G>T	uc002grt.1	-	c.680C>A	c.(679-681)CCG>CAG	p.P227Q	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.P173Q|SREBF1_uc002gru.1_Missense_Mutation_p.P197Q|SREBF1_uc010cpp.1_Missense_Mutation_p.P173Q|SREBF1_uc010cpq.1_Missense_Mutation_p.P197Q	NM_001005291	NP_001005291	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	197	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|sterol response element binding				0														0.5	6.449931	6.44993	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17722973	17722973	15655	17	G	T	T	T	507	39	SREBF1	1	1
ADAM11	4185	broad.mit.edu	37	17	42854901	42854901	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42854901G>T	uc002ihh.2	+	c.1833G>T	c.(1831-1833)CGG>CGT	p.R611R	ADAM11_uc010wjd.1_Silent_p.R411R|ADAM11_uc002ihi.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	611	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)												0.552	199.362211	199.65422	69	56	KEEP	---	---	---	---	capture		Silent	SNP	42854901	42854901	236	17	G	T	T	T	535	42	ADAM11	2	2
OSBPL7	114881	broad.mit.edu	37	17	45891129	45891129	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45891129C>A	uc002ilx.1	-	c.1423G>T	c.(1423-1425)GCT>TCT	p.A475S	OSBPL7_uc002ilw.1_Missense_Mutation_p.A37S	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	475					lipid transport		lipid binding				0														0.163636	10.628124	16.562748	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45891129	45891129	11693	17	C	A	A	A	338	26	OSBPL7	2	2
ABCA9	10350	broad.mit.edu	37	17	67013932	67013932	+	Splice_Site_SNP	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67013932T>C	uc002jhu.2	-	c.2768_splice	c.e21-1	p.G923_splice	ABCA9_uc010dez.2_Splice_Site_SNP_p.G923_splice	NM_080283	NP_525022			ATP-binding cassette, sub-family A, member 9						transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.160194	74.000291	96.600132	33	173	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67013932	67013932	40	17	T	C	C	C	689	53	ABCA9	5	4
GPR142	350383	broad.mit.edu	37	17	72368677	72368677	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72368677G>T	uc010wqy.1	+	c.1327G>T	c.(1327-1329)GAG>TAG	p.E443*	GPR142_uc010wqx.1_Nonsense_Mutation_p.E355*	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	443	Cytoplasmic (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.189189	21.697574	28.398158	14	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72368677	72368677	6924	17	G	T	T	T	429	33	GPR142	5	2
ACOX1	51	broad.mit.edu	37	17	73945907	73945907	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73945907T>C	uc002jqf.2	-	c.1370A>G	c.(1369-1371)GAC>GGC	p.D457G	ACOX1_uc010wsq.1_Missense_Mutation_p.D419G|ACOX1_uc002jqe.2_Missense_Mutation_p.D457G|ACOX1_uc010wsr.1_Missense_Mutation_p.D389G	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	457					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1														0.180556	31.448093	38.34213	13	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73945907	73945907	159	17	T	C	C	C	754	58	ACOX1	4	4
EVPL	2125	broad.mit.edu	37	17	74019680	74019680	+	Missense_Mutation	SNP	C	A	A	rs78044548	by1000genomes	TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74019680C>A	uc010wss.1	-	c.254G>T	c.(253-255)CGC>CTC	p.R85L	EVPL_uc002jqi.2_Missense_Mutation_p.R85L|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	85	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.25	21.562991	23.604915	9	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74019680	74019680	5485	17	C	A	A	A	351	27	EVPL	1	1
DNAH17	8632	broad.mit.edu	37	17	76548888	76548888	+	Splice_Site_SNP	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76548888C>A	uc002jvv.1	-	c.1285_splice	c.e11-1	p.I429_splice		DNAH17				RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)											0.178571	32.823758	43.727005	20	92	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	76548888	76548888	4784	17	C	A	A	A	416	32	DNAH17	5	2
MAFG	4097	broad.mit.edu	37	17	79880889	79880889	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79880889C>G	uc002kcm.2	-	c.81G>C	c.(79-81)GAG>GAC	p.E27D	MAFG_uc002kcn.2_Missense_Mutation_p.E27D	NM_032711	NP_116100	O15525	MAFG_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	27					blood coagulation|regulation of transcription, DNA-dependent	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)											0.5625	27.075482	27.129751	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79880889	79880889	9537	17	C	G	G	G	311	24	MAFG	3	3
PIK3R6	146850	broad.mit.edu	37	17	8732033	8732033	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8732033G>T	uc002glq.1	-	c.1164C>A	c.(1162-1164)GAC>GAA	p.D388E	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	388					platelet activation	cytosol					0														0.3	7.727767	8.081366	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8732033	8732033	12347	17	G	T	T	T	516	40	PIK3R6	1	1
CTAGE1	64693	broad.mit.edu	37	18	19997210	19997210	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19997210G>T	uc002ktv.1	-	c.565C>A	c.(565-567)CAG>AAG	p.Q189K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	189	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)													0.801047	447.423087	463.506632	153	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19997210	19997210	4151	18	G	T	T	T	585	45	CTAGE1	2	2
C18orf34	374864	broad.mit.edu	37	18	30846968	30846968	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30846968C>A	uc010xbr.1	-	c.1321G>T	c.(1321-1323)GCT>TCT	p.A441S	C18orf34_uc010dme.1_5'UTR|C18orf34_uc002kxn.2_Missense_Mutation_p.A441S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A441S|C18orf34_uc002kxp.2_Missense_Mutation_p.A441S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	441										ovary(1)	1														0.87234	124.974149	131.310642	41	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30846968	30846968	1963	18	C	A	A	A	364	28	C18orf34	2	2
DCC	1630	broad.mit.edu	37	18	50683801	50683801	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50683801G>A	uc002lfe.1	+	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	DCC_uc010xdr.1_Missense_Mutation_p.R294H|DCC_uc010dpf.1_Missense_Mutation_p.R101H	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	446	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)										0.180328	16.685862	22.553837	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50683801	50683801	4453	18	G	A	A	A	520	40	DCC	1	1
CYP4F8	11283	broad.mit.edu	37	19	15740149	15740149	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15740149G>T	uc002nbi.2	+	c.1544G>T	c.(1543-1545)CGA>CTA	p.R515L	CYP4F8_uc010xoj.1_Missense_Mutation_p.R327L	NM_007253	NP_009184	P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F,	515					oxidation-reduction process|prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			large_intestine(1)	1														0.3	6.017642	6.377314	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15740149	15740149	4356	19	G	T	T	T	481	37	CYP4F8	1	1
ZNF676	163223	broad.mit.edu	37	19	22363115	22363115	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363115C>A	uc002nqs.1	-	c.1404G>T	c.(1402-1404)AAG>AAT	p.K468N		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	468	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.125	7.688617	18.694842	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363115	22363115	18678	19	C	A	A	A	415	32	ZNF676	2	2
ZNF99	7652	broad.mit.edu	37	19	22939359	22939359	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22939359G>T	uc010xrh.1	-	c.2812C>A	c.(2812-2814)CAT>AAT	p.H938N		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	938	C2H2-type 27.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.30303	23.13527	24.279524	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22939359	22939359	18808	19	G	T	T	T	585	45	ZNF99	2	2
SIPA1L3	23094	broad.mit.edu	37	19	38579466	38579466	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38579466A>G	uc002ohk.2	+	c.1640A>G	c.(1639-1641)TAC>TGC	p.Y547C		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	547					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.213115	33.550421	38.183505	13	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38579466	38579466	14826	19	A	G	G	G	182	14	SIPA1L3	4	4
RYR1	6261	broad.mit.edu	37	19	38996576	38996576	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38996576A>T	uc002oit.2	+	c.8531A>T	c.(8530-8532)CAA>CTA	p.Q2844L	RYR1_uc002oiu.2_Missense_Mutation_p.Q2844L|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2844	5.|Cytoplasmic.|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)									0.371429	30.568421	31.075294	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38996576	38996576	14248	19	A	T	T	T	65	5	RYR1	3	3
SPTBN4	57731	broad.mit.edu	37	19	41078081	41078081	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41078081G>A	uc002ony.2	+	c.7476G>A	c.(7474-7476)AAG>AAA	p.K2492K	SPTBN4_uc002onz.2_Silent_p.K2492K|SPTBN4_uc010egx.2_Silent_p.K1235K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2492	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.147059	12.301097	20.448614	10	58	KEEP	---	---	---	---	capture		Silent	SNP	41078081	41078081	15635	19	G	A	A	A	438	34	SPTBN4	2	2
EGLN2	112398	broad.mit.edu	37	19	41313712	41313712	+	Splice_Site_SNP	SNP	A	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41313712A>C	uc010ehd.2	+	c.1169_splice	c.e12-2	p.A390_splice	EGLN2_uc002opg.3_Splice_Site_SNP_p.A390_splice|EGLN2_uc002oph.2_Splice_Site_SNP_p.A390_splice|EGLN2_uc002opi.2_Splice_Site_SNP_p.A390_splice	NM_080732	NP_542770			EGL nine (C.elegans) homolog 2						cell redox homeostasis|estrogen receptor signaling pathway|oxidation-reduction process|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)							OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.388889	20.01979	20.214645	7	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41313712	41313712	5158	19	A	C	C	C	91	7	EGLN2	5	4
ZNF285	26974	broad.mit.edu	37	19	44891556	44891556	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44891556C>G	uc010xxa.1	-	c.872G>C	c.(871-873)GGC>GCC	p.G291A	ZFP112_uc010xwz.1_Intron|ZNF285_uc002ozd.3_Missense_Mutation_p.G284A	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.206522	50.999144	58.324262	19	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44891556	44891556	18414	19	C	G	G	G	338	26	ZNF285	3	3
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44932748G>A	uc002oze.1	-	c.2208C>T	c.(2206-2208)GGC>GGT	p.G736G	ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0352)												0.470588	19.349964	19.356372	8	9	KEEP	---	---	---	---	capture		Silent	SNP	44932748	44932748	18373	19	G	A	A	A	483	38	ZNF229	1	1
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4550923A>T	uc010duc.1	-	c.1009T>A	c.(1009-1011)TGC>AGC	p.C337S	SEMA6B_uc010dud.2_Missense_Mutation_p.C337S|SEMA6B_uc010xih.1_Missense_Mutation_p.C337S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	337	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										0.2	10.551465	13.05086	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4550923	4550923	14526	19	A	T	T	T	91	7	SEMA6B	3	3
CRX	1406	broad.mit.edu	37	19	48342705	48342705	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48342705C>A	uc002phq.3	+	c.381C>A	c.(379-381)CCC>CCA	p.P127P		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	127					organ morphogenesis|response to stimulus|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		Pancreas(57;461 1196 22201 40716 47188)								0.168539	20.165859	29.445474	15	74	KEEP	---	---	---	---	capture		Silent	SNP	48342705	48342705	4041	19	C	A	A	A	301	24	CRX	2	2
MYBPC2	4606	broad.mit.edu	37	19	50961849	50961849	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50961849G>C	uc002psf.2	+	c.2344G>C	c.(2344-2346)GAA>CAA	p.E782Q		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	782	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)										0.25	8.419109	9.100857	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50961849	50961849	10407	19	G	C	C	C	533	41	MYBPC2	3	3
LILRB3	11025	broad.mit.edu	37	19	54745979	54745979	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54745979G>T	uc010erh.1	-	c.278C>A	c.(277-279)GCA>GAA	p.A93E	LILRA6_uc002qew.1_Missense_Mutation_p.A93E|LILRB3_uc002qeh.1_Missense_Mutation_p.A93E|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A93E|LILRA6_uc002qek.1_Missense_Mutation_p.A93E|LILRB3_uc002qej.1_Non-coding_Transcript|LILRA6_uc002qel.1_Missense_Mutation_p.A93E|LILRA6_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.A93E|LILRB3_uc002qep.1_Missense_Mutation_p.A93E|LILRB3_uc002qeq.1_Missense_Mutation_p.A93E|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A93E|LILRA6_uc010yep.1_Missense_Mutation_p.A93E|LILRA6_uc010yeq.1_Missense_Mutation_p.A93E|LILRA6_uc002qet.3_Non-coding_Transcript|LILRA6_uc002qeu.1_Missense_Mutation_p.A93E|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	93	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.121429	16.386206	36.048389	17	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54745979	54745979	9118	19	G	T	T	T	598	46	LILRB3	2	2
LILRB1	10859	broad.mit.edu	37	19	55144512	55144512	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55144512C>A	uc002qgm.2	+	c.1004C>A	c.(1003-1005)ACG>AAG	p.T335K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Missense_Mutation_p.T335K|LILRB1_uc002qgl.2_Missense_Mutation_p.T335K|LILRB1_uc002qgk.2_Missense_Mutation_p.T335K|LILRB1_uc010erq.2_Missense_Mutation_p.T335K|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	335	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.304348	37.53657	39.105526	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55144512	55144512	9116	19	C	A	A	A	247	19	LILRB1	1	1
NLRP4	147945	broad.mit.edu	37	19	56370337	56370337	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56370337G>T	uc002qmd.3	+	c.1578G>T	c.(1576-1578)GAG>GAT	p.E526D	NLRP4_uc002qmf.2_Missense_Mutation_p.E451D|NLRP4_uc010etf.2_Missense_Mutation_p.E357D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	526							ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.137931	8.756461	16.117835	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56370337	56370337	10882	19	G	T	T	T	425	33	NLRP4	2	2
NLRP5	126206	broad.mit.edu	37	19	56544123	56544123	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56544123C>A	uc002qmj.2	+	c.2423C>A	c.(2422-2424)CCC>CAC	p.P808H	NLRP5_uc002qmi.2_Missense_Mutation_p.P789H	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	808						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)										0.305085	38.716575	40.723271	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56544123	56544123	10883	19	C	A	A	A	286	22	NLRP5	2	2
OR7G3	390883	broad.mit.edu	37	19	9236888	9236888	+	Missense_Mutation	SNP	C	A	A	rs61730396	byFrequency;by1000genomes	TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9236888C>A	uc010xkl.1	-	c.739G>T	c.(739-741)GTT>TTT	p.V247F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.114754	7.487282	16.404496	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9236888	9236888	11635	19	C	A	A	A	247	19	OR7G3	1	1
COL11A1	1301	broad.mit.edu	37	1	103544335	103544335	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103544335C>T	uc001dum.2	-	c.367G>A	c.(367-369)GGT>AGT	p.G123S	COL11A1_uc001dul.2_Missense_Mutation_p.G123S|COL11A1_uc001dun.2_Missense_Mutation_p.G123S|COL11A1_uc009weh.2_Missense_Mutation_p.G123S	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	123	TSP N-terminal.				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)										0.173913	6.08706	8.395903	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103544335	103544335	3805	1	C	T	T	T	273	21	COL11A1	2	2
CASZ1	54897	broad.mit.edu	37	1	10702979	10702979	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10702979C>G	uc001aro.2	-	c.4099G>C	c.(4099-4101)GAG>CAG	p.E1367Q		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)										0.4	33.247282	33.46519	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10702979	10702979	2804	1	C	G	G	G	377	29	CASZ1	3	3
NTNG1	22854	broad.mit.edu	37	1	107867518	107867518	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107867518G>T	uc001dvh.3	+	c.861G>T	c.(859-861)GCG>GCT	p.A287A	NTNG1_uc001dvf.3_Silent_p.A287A|NTNG1_uc010out.1_Silent_p.A287A|NTNG1_uc001dvc.3_Silent_p.A287A|NTNG1_uc001dvd.1_Silent_p.A287A	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	287	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.15	8.822657	13.523048	6	34	KEEP	---	---	---	---	capture		Silent	SNP	107867518	107867518	11109	1	G	T	T	T	470	37	NTNG1	1	1
HSD3B2	3284	broad.mit.edu	37	1	119964814	119964814	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119964814G>T	uc001ehs.2	+	c.690G>T	c.(688-690)TGG>TGT	p.W230C	HSD3B2_uc001eht.2_Missense_Mutation_p.W230C|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	230					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|oxidation-reduction process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)									0.206897	18.802416	23.403482	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119964814	119964814	7686	1	G	T	T	T	559	43	HSD3B2	2	2
LOC649330	649330	broad.mit.edu	37	1	12907355	12907355	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12907355C>T	uc009vno.2	-	c.788G>A	c.(787-789)GGG>GAG	p.G263E	HNRNPCL1_uc010obf.1_Missense_Mutation_p.G263E	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	263							nucleic acid binding|nucleotide binding				0														0.197183	29.506474	35.573315	14	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12907355	12907355	9249	1	C	T	T	T	286	22	LOC649330	2	2
BCL9	607	broad.mit.edu	37	1	147091685	147091685	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147091685G>T	uc001epq.2	+	c.1724G>T	c.(1723-1725)GGG>GTG	p.G575V	BCL9_uc010ozr.1_Missense_Mutation_p.G501V	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.579365	190.047985	190.733866	73	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147091685	147091685	1402	1	G	T	T	T	559	43	BCL9	2	2
C1orf51	148523	broad.mit.edu	37	1	150255696	150255696	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150255696G>T	uc001euh.2	+	c.19G>T	c.(19-21)GTT>TTT	p.V7F	C1orf51_uc001eui.2_Intron|C1orf51_uc001euj.2_Missense_Mutation_p.V7F	NM_144697	NP_653298	Q8N365	CA051_HUMAN	hypothetical protein LOC148523	7	Ser-rich.										0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.119205	21.373925	42.843003	18	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150255696	150255696	2117	1	G	T	T	T	520	40	C1orf51	1	1
ZNF687	57592	broad.mit.edu	37	1	151261159	151261159	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151261159C>T	uc001exq.2	+	c.2271C>T	c.(2269-2271)CAC>CAT	p.H757H	ZNF687_uc009wmo.2_Silent_p.H757H|ZNF687_uc009wmp.2_Silent_p.H757H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.147059	23.032366	39.302657	20	116	KEEP	---	---	---	---	capture		Silent	SNP	151261159	151261159	18687	1	C	T	T	T	246	19	ZNF687	1	1
SPTA1	6708	broad.mit.edu	37	1	158617426	158617426	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158617426G>T	uc001fst.1	-	c.3799C>A	c.(3799-3801)CTG>ATG	p.L1267M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1267	Spectrin 12.				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)													0.1375	14.271313	24.443846	11	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158617426	158617426	15630	1	G	T	T	T	438	34	SPTA1	2	2
SPTA1	6708	broad.mit.edu	37	1	158645963	158645963	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158645963G>T	uc001fst.1	-	c.1080C>A	c.(1078-1080)ACC>ACA	p.T360T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	360	Spectrin 4.				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)													0.65625	237.513891	240.271878	84	44	KEEP	---	---	---	---	capture		Silent	SNP	158645963	158645963	15630	1	G	T	T	T	600	47	SPTA1	2	2
DARC	2532	broad.mit.edu	37	1	159176052	159176052	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159176052A>T	uc001ftp.3	+	c.829A>T	c.(829-831)ACA>TCA	p.T277S	DARC_uc001fto.2_Missense_Mutation_p.T275S	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	275	Extracellular (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.116541	21.473075	59.950842	31	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159176052	159176052	4407	1	A	T	T	T	26	2	DARC	3	3
VANGL2	57216	broad.mit.edu	37	1	160390262	160390262	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160390262C>T	uc001fwb.1	+	c.862C>T	c.(862-864)CCT>TCT	p.P288S	VANGL2_uc001fwc.1_Missense_Mutation_p.P288S	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	288	Cytoplasmic (Potential).				apical protein localization|heart looping|sensory cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.120879	10.956046	23.791838	11	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160390262	160390262	17685	1	C	T	T	T	286	22	VANGL2	2	2
BAT2L2	23215	broad.mit.edu	37	1	171535858	171535858	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171535858G>T	uc010pmg.1	+	c.6428G>T	c.(6427-6429)AGC>ATC	p.S2143I	BAT2L2_uc010pmh.1_Missense_Mutation_p.S1120I|BAT2L2_uc010pmi.1_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2143							protein C-terminus binding				0														0.611111	31.125218	31.319127	11	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171535858	171535858	1342	1	G	T	T	T	442	34	BAT2L2	2	2
PAPPA2	60676	broad.mit.edu	37	1	176563988	176563988	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176563988G>T	uc001gkz.2	+	c.1248G>T	c.(1246-1248)GGG>GGT	p.G416G	PAPPA2_uc001gky.1_Silent_p.G416G|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	416					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.126126	11.17519	26.351921	14	97	KEEP	---	---	---	---	capture		Silent	SNP	176563988	176563988	11850	1	G	T	T	T	535	42	PAPPA2	2	2
RASAL2	9462	broad.mit.edu	37	1	178389684	178389684	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178389684G>T	uc001glq.2	+	c.603G>T	c.(601-603)AGG>AGT	p.R201S	RASAL2_uc009wxb.2_Missense_Mutation_p.R201S|RASAL2_uc001glr.2_Missense_Mutation_p.R53S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	53	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.380952	19.79029	20.052828	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178389684	178389684	13525	1	G	T	T	T	529	41	RASAL2	2	2
C4BPA	722	broad.mit.edu	37	1	207297525	207297525	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207297525A>T	uc001hfo.2	+	c.520A>T	c.(520-522)AAG>TAG	p.K174*		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	174	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)	2														0.157303	24.709165	34.667113	14	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	207297525	207297525	2344	1	A	T	T	T	65	5	C4BPA	5	3
KCNK2	3776	broad.mit.edu	37	1	215345436	215345436	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215345436T>C	uc001hkq.2	+	c.733T>C	c.(733-735)TTC>CTC	p.F245L	KCNK2_uc001hko.2_Missense_Mutation_p.F241L|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.3_Missense_Mutation_p.F230L	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	245							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)									0.244444	58.120927	63.46554	22	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215345436	215345436	8371	1	T	C	C	C	676	52	KCNK2	4	4
USH2A	7399	broad.mit.edu	37	1	215940026	215940026	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215940026C>T	uc001hku.1	-	c.11044G>A	c.(11044-11046)GAA>AAA	p.E3682K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3682	Fibronectin type-III 22.|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)										0.173913	19.159475	26.087071	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215940026	215940026	17598	1	C	T	T	T	377	29	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216420069	216420069	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216420069C>T	uc001hku.1	-	c.2667G>A	c.(2665-2667)TTG>TTA	p.L889L	USH2A_uc001hkv.2_Silent_p.L889L	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	889	Laminin EGF-like 7.|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)										0.190083	39.342931	50.224752	23	98	KEEP	---	---	---	---	capture		Silent	SNP	216420069	216420069	17598	1	C	T	T	T	376	29	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216420340	216420340	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216420340G>C	uc001hku.1	-	c.2396C>G	c.(2395-2397)ACA>AGA	p.T799R	USH2A_uc001hkv.2_Missense_Mutation_p.T799R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	799	Extracellular (Potential).|Laminin EGF-like 6.				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)										0.105882	10.309929	23.427154	9	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216420340	216420340	17598	1	G	C	C	C	624	48	USH2A	3	3
HHIPL2	79802	broad.mit.edu	37	1	222717353	222717353	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222717353C>A	uc001hnh.1	-	c.500G>T	c.(499-501)CGC>CTC	p.R167L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	167					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)										0.627907	163.459988	164.694888	54	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222717353	222717353	7378	1	C	A	A	A	351	27	HHIPL2	1	1
RYR2	6262	broad.mit.edu	37	1	237880548	237880548	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237880548G>T	uc001hyl.1	+	c.10374G>T	c.(10372-10374)CGG>CGT	p.R3458R	RYR2_uc010pxz.1_Silent_p.R413R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.173913	5.883969	8.196157	4	19	KEEP	---	---	---	---	capture		Silent	SNP	237880548	237880548	14249	1	G	T	T	T	561	44	RYR2	2	2
FMN2	56776	broad.mit.edu	37	1	240371461	240371461	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240371461G>T	uc010pye.1	+	c.3361G>T	c.(3361-3363)GGC>TGC	p.G1121C	FMN2_uc010pyd.1_Missense_Mutation_p.G1117C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1117	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)						p.PPLPGAGIPPP1280del(SNU119-Tumor)|p.PPLPGAGIPPP1280del(SNU601-Tumor)	1289				0.8	11.202972	11.618535	4	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240371461	240371461	6192	1	G	T	T	T	559	43	FMN2	2	2
ZNF496	84838	broad.mit.edu	37	1	247471885	247471885	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247471885G>C	uc009xgv.2	-	c.1006C>G	c.(1006-1008)CCA>GCA	p.P336A	ZNF496_uc001ico.2_Missense_Mutation_p.P300A|ZNF496_uc001icp.2_Missense_Mutation_p.P300A|ZNF496_uc001icq.1_Missense_Mutation_p.P75A	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	300					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)											0.309278	93.725198	96.862792	30	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247471885	247471885	18539	1	G	C	C	C	533	41	ZNF496	3	3
OR2L2	26246	broad.mit.edu	37	1	248201720	248201720	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248201720G>T	uc001idw.2	+	c.151G>T	c.(151-153)GAC>TAC	p.D51Y	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	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;0.0278)											0.205	70.229019	86.4242	41	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248201720	248201720	11413	1	G	T	T	T	533	41	OR2L2	2	2
OR2L13	284521	broad.mit.edu	37	1	248262794	248262794	+	Silent	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248262794G>C	uc001ids.2	+	c.117G>C	c.(115-117)GTG>GTC	p.V39V		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(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;0.0132)							85				0.14876	28.506885	42.816773	18	103	KEEP	---	---	---	---	capture		Silent	SNP	248262794	248262794	11412	1	G	C	C	C	600	47	OR2L13	3	3
OR14I1	401994	broad.mit.edu	37	1	248845247	248845247	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248845247C>T	uc001ieu.1	-	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.487805	50.391242	50.39667	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248845247	248845247	11353	1	C	T	T	T	351	27	OR14I1	1	1
EDN2	1907	broad.mit.edu	37	1	41948221	41948221	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41948221C>A	uc001cgx.2	-	c.260G>T	c.(259-261)CGC>CTC	p.R87L	EDN2_uc001cgu.2_Non-coding_Transcript|EDN2_uc001cgv.2_Non-coding_Transcript|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_Non-coding_Transcript|EDN2_uc009vwi.2_Intron|EDN2_uc009vwj.2_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	endothelin 2 preproprotein	87					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.461538	17.54846	17.565207	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41948221	41948221	5104	1	C	A	A	A	351	27	EDN2	1	1
CYP4X1	260293	broad.mit.edu	37	1	47489533	47489533	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47489533A>T	uc001cqt.2	+	c.44A>T	c.(43-45)TAC>TTC	p.Y15F	CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	15					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.230769	18.372337	20.953801	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47489533	47489533	4358	1	A	T	T	T	182	14	CYP4X1	3	3
C8B	732	broad.mit.edu	37	1	57406675	57406675	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57406675C>A	uc001cyp.2	-	c.1245G>T	c.(1243-1245)AAG>AAT	p.K415N	C8B_uc010oon.1_Missense_Mutation_p.K353N|C8B_uc010ooo.1_Missense_Mutation_p.K363N	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4														0.259259	15.110867	16.529727	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57406675	57406675	2526	1	C	A	A	A	415	32	C8B	2	2
KANK4	163782	broad.mit.edu	37	1	62740108	62740108	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62740108C>A	uc001dah.3	-	c.668G>T	c.(667-669)CGG>CTG	p.R223L	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	223	Pro-rich.									ovary(3)|lung(1)	4														0.342857	32.423377	33.170992	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62740108	62740108	8283	1	C	A	A	A	299	23	KANK4	1	1
MSH4	4438	broad.mit.edu	37	1	76343982	76343982	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76343982G>T	uc001dhd.1	+	c.1519G>T	c.(1519-1521)GAG>TAG	p.E507*		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	507					chiasma assembly|homologous chromosome segregation|meiotic mismatch repair|reciprocal meiotic recombination	mismatch repair complex|synaptonemal complex	ATP binding|damaged DNA binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(1)|lung(1)	2														0.181818	8.624816	11.771581	6	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76343982	76343982	10265	1	G	T	T	T	429	33	MSH4	5	2
CLCA4	22802	broad.mit.edu	37	1	87036875	87036875	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87036875T>A	uc009wcs.2	+	c.1298T>A	c.(1297-1299)GTT>GAT	p.V433D	CLCA4_uc009wct.2_Missense_Mutation_p.V196D|CLCA4_uc009wcu.2_Missense_Mutation_p.V253D	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	433	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.382716	79.297841	80.277132	31	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87036875	87036875	3595	1	T	A	A	A	780	60	CLCA4	3	3
GBP7	388646	broad.mit.edu	37	1	89598950	89598950	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89598950G>T	uc001dna.2	-	c.1653C>A	c.(1651-1653)CAC>CAA	p.H551Q	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	551						integral to membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)										0.203704	24.095467	28.495915	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89598950	89598950	6545	1	G	T	T	T	620	48	GBP7	2	2
SEC23B	10483	broad.mit.edu	37	20	18535781	18535781	+	Silent	SNP	A	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18535781A>C	uc002wqz.1	+	c.2178A>C	c.(2176-2178)CCA>CCC	p.P726P	SEC23B_uc002wra.1_Silent_p.P726P|SEC23B_uc002wrb.1_Silent_p.P726P|SEC23B_uc010zsb.1_Silent_p.P708P|SEC23B_uc002wrc.1_Silent_p.P726P	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	726					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1														0.272727	18.169375	19.175413	6	16	KEEP	---	---	---	---	capture		Silent	SNP	18535781	18535781	14478	20	A	C	C	C	93	8	SEC23B	4	4
PLAGL2	5326	broad.mit.edu	37	20	30785235	30785235	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30785235G>T	uc002wxn.2	-	c.511C>A	c.(511-513)CTG>ATG	p.L171M		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	171	C2H2-type 4.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			Colon(163;15 1893 11280 16306 47518)								0.16	5.581746	8.337119	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30785235	30785235	12446	20	G	T	T	T	451	35	PLAGL2	2	2
SPAG4	6676	broad.mit.edu	37	20	34207127	34207127	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34207127C>A	uc002xdb.1	+	c.804C>A	c.(802-804)ATC>ATA	p.I268I	SPAG4_uc010zvi.1_Silent_p.I191I	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	268	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)											0.202703	28.076159	34.161129	15	59	KEEP	---	---	---	---	capture		Silent	SNP	34207127	34207127	15483	20	C	A	A	A	395	31	SPAG4	1	1
LBP	3929	broad.mit.edu	37	20	36989359	36989359	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36989359T>A	uc002xic.1	+	c.590T>A	c.(589-591)ATT>AAT	p.I197N		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	197					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)												0.138889	12.909121	21.98137	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36989359	36989359	8974	20	T	A	A	A	676	52	LBP	3	3
NFATC2	4773	broad.mit.edu	37	20	50051770	50051770	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50051770C>A	uc002xwd.2	-	c.1987G>T	c.(1987-1989)GGG>TGG	p.G663W	NFATC2_uc002xwc.2_Missense_Mutation_p.G663W|NFATC2_uc010zyv.1_Missense_Mutation_p.G444W|NFATC2_uc010zyw.1_Missense_Mutation_p.G444W|NFATC2_uc010zyx.1_Missense_Mutation_p.G643W|NFATC2_uc010zyy.1_Missense_Mutation_p.G444W|NFATC2_uc010zyz.1_Missense_Mutation_p.G444W|NFATC2_uc002xwe.2_Missense_Mutation_p.G643W	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	663					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(2)	2	Hepatocellular(150;0.248)													0.171429	16.147655	23.307751	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50051770	50051770	10762	20	C	A	A	A	273	21	NFATC2	2	2
CHGB	1114	broad.mit.edu	37	20	5905682	5905682	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5905682G>T	uc002wmg.2	+	c.2021G>T	c.(2020-2022)AGC>ATC	p.S674I	CHGB_uc010zqz.1_Missense_Mutation_p.S357I	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	674						extracellular space	hormone activity			breast(3)|ovary(1)	4														0.238095	10.664559	11.980997	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5905682	5905682	3473	20	G	T	T	T	442	34	CHGB	2	2
NCAM2	4685	broad.mit.edu	37	21	22804584	22804584	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22804584G>T	uc002yld.1	+	c.1637G>T	c.(1636-1638)CGC>CTC	p.R546L	NCAM2_uc011acb.1_Missense_Mutation_p.R404L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	546	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.333333	26.838774	27.577406	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804584	22804584	10602	21	G	T	T	T	494	38	NCAM2	1	1
GRIK1	2897	broad.mit.edu	37	21	31062202	31062202	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31062202G>T	uc011acs.1	-	c.390C>A	c.(388-390)CAC>CAA	p.H130Q	GRIK1_uc002ynn.2_Missense_Mutation_p.H130Q|GRIK1_uc011act.1_Missense_Mutation_p.H74Q|GRIK1_uc002yno.1_Missense_Mutation_p.H130Q|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.H130Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	130	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				0.338346	124.631789	127.706261	45	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31062202	31062202	7052	21	G	T	T	T	620	48	GRIK1	2	2
TIAM1	7074	broad.mit.edu	37	21	32638890	32638890	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32638890C>A	uc002yow.1	-	c.399G>T	c.(397-399)AGG>AGT	p.R133S	TIAM1_uc011adk.1_Missense_Mutation_p.R133S|TIAM1_uc011adl.1_Missense_Mutation_p.R133S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	133					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.294118	36.84707	38.758091	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32638890	32638890	16418	21	C	A	A	A	337	26	TIAM1	2	2
CLDN14	23562	broad.mit.edu	37	21	37833634	37833634	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37833634G>T	uc002yvk.1	-	c.360C>A	c.(358-360)CTC>CTA	p.L120L	CLDN14_uc002yvn.1_Silent_p.L120L|CLDN14_uc002yvo.1_Silent_p.L120L|CLDN14_uc002yvl.1_Silent_p.L120L|CLDN14_uc002yvm.1_Silent_p.L120L	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	120	Helical; (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.175676	21.529165	28.871913	13	61	KEEP	---	---	---	---	capture		Silent	SNP	37833634	37833634	3611	21	G	T	T	T	470	37	CLDN14	1	1
UMODL1	89766	broad.mit.edu	37	21	43504227	43504227	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43504227C>A	uc002zag.1	+	c.353C>A	c.(352-354)CCT>CAT	p.P118H	UMODL1_uc002zad.1_Missense_Mutation_p.P46H|UMODL1_uc002zae.1_Missense_Mutation_p.P46H|UMODL1_uc002zaf.1_Missense_Mutation_p.P118H|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	118	Extracellular (Potential).|WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.302469	102.803872	108.399298	49	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43504227	43504227	17538	21	C	A	A	A	312	24	UMODL1	2	2
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:44524456G>A	uc002zda.1	-	c.101C>T	c.(100-102)TCT>TTT	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	34	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0														0.322581	25.641242	26.506898	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44524456	44524456	17378	21	G	A	A	A	429	33	U2AF1	2	2
SYN3	8224	broad.mit.edu	37	22	33265006	33265006	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:33265006G>C	uc003amx.2	-	c.568C>G	c.(568-570)CCT>GCT	p.P190A	SYN3_uc003amy.2_Missense_Mutation_p.P190A|SYN3_uc003amz.2_Missense_Mutation_p.P189A	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity				0										35				0.258065	22.010722	23.638579	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33265006	33265006	15963	22	G	C	C	C	546	42	SYN3	3	3
SHANK3	85358	broad.mit.edu	37	22	51117202	51117203	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51117202_51117203CC>TT	uc003bne.1	+	c.454_455CC>TT	c.(454-456)CCC>TTC	p.P152F		NM_001080420	NP_001073889			SH3 and multiple ankyrin repeat domains 3											central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)										0.48	36.007306	36.015321	12	13	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	51117202	51117203	14758	22	CC	TT	TT	TT	286	22	SHANK3	2	2
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130877801G>A	uc010fmh.2	-	c.288C>T	c.(286-288)AAC>AAT	p.N96N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	96						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.173913	26.617787	38.207624	20	95	KEEP	---	---	---	---	capture		Silent	SNP	130877801	130877801	12695	2	G	A	A	A	620	48	POTEF	2	2
EPC2	26122	broad.mit.edu	37	2	149542324	149542324	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149542324A>T	uc010zbt.1	+	c.2105A>T	c.(2104-2106)CAC>CTC	p.H702L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	702					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)										0.414634	48.47542	48.733881	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149542324	149542324	5354	2	A	T	T	T	78	6	EPC2	3	3
RAD51AP2	729475	broad.mit.edu	37	2	17697105	17697105	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17697105C>A	uc002rcl.1	-	c.2578G>T	c.(2578-2580)GAG>TAG	p.E860*	RAD51AP2_uc010exn.1_Nonsense_Mutation_p.E851*	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	860										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.230769	5.521073	6.38331	3	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17697105	17697105	13447	2	C	A	A	A	416	32	RAD51AP2	5	2
TTN	7273	broad.mit.edu	37	2	179424886	179424886	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179424886G>C	uc010zfg.1	-	c.78269C>G	c.(78268-78270)CCC>CGC	p.P26090R	TTN_uc010zfh.1_Missense_Mutation_p.P19785R|TTN_uc010zfi.1_Missense_Mutation_p.P19718R|TTN_uc010zfj.1_Missense_Mutation_p.P19593R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.271186	44.935484	47.683431	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179424886	179424886	17290	2	G	C	C	C	559	43	TTN	3	3
DNAH7	56171	broad.mit.edu	37	2	196737076	196737076	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196737076C>A	uc002utj.3	-	c.6531G>T	c.(6529-6531)TTG>TTT	p.L2177F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2177	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.267857	36.49567	39.223935	15	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196737076	196737076	4789	2	C	A	A	A	220	17	DNAH7	2	2
MARS2	92935	broad.mit.edu	37	2	198571774	198571774	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198571774G>T	uc002uuq.2	+	c.1645G>T	c.(1645-1647)GGA>TGA	p.G549*		NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	549					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)	2					L-Methionine(DB00134)									0.316239	83.031859	86.546948	37	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	198571774	198571774	9700	2	G	T	T	T	611	47	MARS2	5	2
DNPEP	23549	broad.mit.edu	37	2	220239586	220239586	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220239586G>A	uc010zlg.1	-	c.1422C>T	c.(1420-1422)ACC>ACT	p.T474T	DNPEP_uc010zlf.1_Non-coding_Transcript|DNPEP_uc002vle.2_Silent_p.T466T|DNPEP_uc002vlf.1_Silent_p.T452T|DNPEP_uc002vlh.2_Silent_p.T413T|DNPEP_uc002vli.1_Silent_p.T413T	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	456					peptide metabolic process|proteolysis	vacuole	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)									0.272727	22.864303	24.398357	9	24	KEEP	---	---	---	---	capture		Silent	SNP	220239586	220239586	4862	2	G	A	A	A	548	43	DNPEP	2	2
TRIP12	9320	broad.mit.edu	37	2	230744731	230744731	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230744731C>G	uc002vpx.1	-	c.65G>C	c.(64-66)GGG>GCG	p.G22A	TRIP12_uc002vpw.1_Missense_Mutation_p.G22A|TRIP12_uc002vpy.1_Missense_Mutation_p.G22A|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Missense_Mutation_p.G22A	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	22					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.25	34.486799	37.904865	15	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230744731	230744731	17106	2	C	G	G	G	286	22	TRIP12	3	3
LTBP1	4052	broad.mit.edu	37	2	33590570	33590570	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33590570G>A	uc002ros.2	+	c.4714G>A	c.(4714-4716)GAT>AAT	p.D1572N	LTBP1_uc002rot.2_Missense_Mutation_p.D1246N|LTBP1_uc002rou.2_Missense_Mutation_p.D1245N|LTBP1_uc002rov.2_Missense_Mutation_p.D1192N|LTBP1_uc010ymz.1_Missense_Mutation_p.D1203N|LTBP1_uc010yna.1_Missense_Mutation_p.D1150N|LTBP1_uc010ynb.1_Missense_Mutation_p.D469N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1571	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)												0.217391	34.788433	39.86924	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33590570	33590570	9449	2	G	A	A	A	455	35	LTBP1	2	2
REG1A	5967	broad.mit.edu	37	2	79349206	79349206	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79349206C>A	uc002snz.2	+	c.276C>A	c.(274-276)GGC>GGA	p.G92G	REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Silent_p.G92G	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	92	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.195652	32.291277	40.244509	18	74	KEEP	---	---	---	---	capture		Silent	SNP	79349206	79349206	13679	2	C	A	A	A	314	25	REG1A	2	2
REG3A	5068	broad.mit.edu	37	2	79384709	79384709	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79384709G>A	uc002sod.1	-	c.449C>T	c.(448-450)TCG>TTG	p.S150L	REG3A_uc002soe.1_Missense_Mutation_p.S150L|REG3A_uc002sof.1_Missense_Mutation_p.S150L	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	150	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.506849	99.157686	99.160531	37	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79384709	79384709	13681	2	G	A	A	A	481	37	REG3A	1	1
CTNNA2	1496	broad.mit.edu	37	2	80773162	80773162	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80773162C>A	uc010ysh.1	+	c.1514C>A	c.(1513-1515)TCA>TAA	p.S505*	CTNNA2_uc010yse.1_Nonsense_Mutation_p.S505*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.S505*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.S505*|CTNNA2_uc010ysi.1_Nonsense_Mutation_p.S137*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	505					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				0.217391	9.061073	10.757078	5	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	80773162	80773162	4172	2	C	A	A	A	377	29	CTNNA2	5	2
RMND5A	64795	broad.mit.edu	37	2	86992312	86992312	+	Silent	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86992312A>G	uc010ytm.1	+	c.684A>G	c.(682-684)CAA>CAG	p.Q228Q	RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Silent_p.Q228Q	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog	228										ovary(1)	1														0.512821	68.507513	68.513424	20	19	KEEP	---	---	---	---	capture		Silent	SNP	86992312	86992312	13874	2	A	G	G	G	11	1	RMND5A	4	4
PROM2	150696	broad.mit.edu	37	2	95941982	95941982	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95941982G>T	uc002suh.1	+	c.505G>T	c.(505-507)GTG>TTG	p.V169L	PROM2_uc002sui.2_Missense_Mutation_p.V169L|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.V169L|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	169	Helical; (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.438356	85.277375	85.520937	32	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95941982	95941982	12999	2	G	T	T	T	624	48	PROM2	2	2
MORC1	27136	broad.mit.edu	37	3	108780903	108780903	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108780903C>A	uc003dxl.2	-	c.898G>T	c.(898-900)GAA>TAA	p.E300*	MORC1_uc011bhn.1_Nonsense_Mutation_p.E300*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	300	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.361702	40.451742	41.246924	17	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108780903	108780903	10092	3	C	A	A	A	377	29	MORC1	5	2
MORC1	27136	broad.mit.edu	37	3	108829607	108829607	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108829607T>A	uc003dxl.2	-	c.143A>T	c.(142-144)GAT>GTT	p.D48V	MORC1_uc011bhn.1_Missense_Mutation_p.D48V	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	48					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|breast(2)	5														0.533333	23.099411	23.113855	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108829607	108829607	10092	3	T	A	A	A	650	50	MORC1	3	3
MBD4	8930	broad.mit.edu	37	3	129155735	129155735	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129155735C>A	uc003emh.1	-	c.752G>T	c.(751-753)AGG>ATG	p.R251M	MBD4_uc003emi.1_Missense_Mutation_p.R251M|MBD4_uc003emj.1_Missense_Mutation_p.R251M|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.R251M	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	251					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2														0.349515	83.657351	85.720331	36	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129155735	129155735	9734	3	C	A	A	A	312	24	MBD4	2	2
GRIP2	80852	broad.mit.edu	37	3	14538040	14538040	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14538040C>T	uc011avi.1	-	c.3002G>A	c.(3001-3003)AGG>AAG	p.R1001K	GRIP2_uc010heh.2_Non-coding_Transcript|GRIP2_uc011avh.1_Missense_Mutation_p.R532K	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	903					synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1														0.310345	22.962839	23.892902	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14538040	14538040	7067	3	C	T	T	T	312	24	GRIP2	2	2
FGD5	152273	broad.mit.edu	37	3	14861865	14861865	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14861865C>T	uc003bzc.2	+	c.1287C>T	c.(1285-1287)CCC>CCT	p.P429P	FGD5_uc011avk.1_Silent_p.P429P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	429					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														0.323529	31.112966	32.052985	11	23	KEEP	---	---	---	---	capture		Silent	SNP	14861865	14861865	6073	3	C	T	T	T	301	24	FGD5	2	2
MME	4311	broad.mit.edu	37	3	154884756	154884756	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154884756G>T	uc010hvr.1	+	c.1726G>T	c.(1726-1728)GGG>TGG	p.G576W	MME_uc003fab.1_Missense_Mutation_p.G576W|MME_uc003fac.1_Missense_Mutation_p.G576W|MME_uc003fad.1_Missense_Mutation_p.G576W|MME_uc003fae.1_Missense_Mutation_p.G576W	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	576	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)									0.314815	38.048159	39.700036	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154884756	154884756	10035	3	G	T	T	T	611	47	MME	2	2
SI	6476	broad.mit.edu	37	3	164741538	164741538	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164741538C>A	uc003fei.2	-	c.2919G>T	c.(2917-2919)GAG>GAT	p.E973D		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	973	Lumenal.|P-type 2.|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)									0.294118	11.667725	12.313094	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164741538	164741538	14792	3	C	A	A	A	259	20	SI	2	2
NLGN1	22871	broad.mit.edu	37	3	173322495	173322495	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173322495G>C	uc003fio.1	+	c.107G>C	c.(106-108)TGT>TCT	p.C36S	NLGN1_uc010hww.1_Missense_Mutation_p.C36S|NLGN1_uc003fip.1_Missense_Mutation_p.C36S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	36					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.382022	112.05299	113.130412	34	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173322495	173322495	10864	3	G	C	C	C	624	48	NLGN1	3	3
NLGN1	22871	broad.mit.edu	37	3	173997429	173997429	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:173997429T>A	uc003fio.1	+	c.1638T>A	c.(1636-1638)TTT>TTA	p.F546L	NLGN1_uc010hww.1_Missense_Mutation_p.F586L|NLGN1_uc003fip.1_Missense_Mutation_p.F546L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	563	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of excitatory postsynaptic membrane potential|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of synaptic transmission|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	carboxylesterase activity|cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)											0.170732	13.60609	17.804941	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173997429	173997429	10864	3	T	A	A	A	816	63	NLGN1	3	3
MASP1	5648	broad.mit.edu	37	3	186953983	186953983	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186953983A>T	uc003fri.2	-	c.1676T>A	c.(1675-1677)CTG>CAG	p.L559Q	MASP1_uc003frh.1_Intron|MASP1_uc003frj.2_Missense_Mutation_p.L528Q	NM_139125	NP_624302	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	558	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)										0.136364	10.733112	19.185354	9	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186953983	186953983	9706	3	A	T	T	T	91	7	MASP1	3	3
ZCWPW2	152098	broad.mit.edu	37	3	28454767	28454767	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:28454767A>T	uc003ceh.2	+	c.208A>T	c.(208-210)AAC>TAC	p.N70Y	ZCWPW2_uc003cei.2_Missense_Mutation_p.N70Y	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	70	CW-type.						zinc ion binding			ovary(2)	2														0.265823	45.744211	49.656872	21	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28454767	28454767	18186	3	A	T	T	T	169	13	ZCWPW2	3	3
LRRN1	57633	broad.mit.edu	37	3	3888136	3888136	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3888136A>G	uc003bpt.3	+	c.1811A>G	c.(1810-1812)CAG>CGG	p.Q604R	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	604	Fibronectin type-III.|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)										0.300885	97.008679	101.008981	34	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3888136	3888136	9410	3	A	G	G	G	91	7	LRRN1	4	4
C3orf63	23272	broad.mit.edu	37	3	56675561	56675561	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:56675561T>A	uc003did.3	-	c.2435A>T	c.(2434-2436)CAT>CTT	p.H812L	C3orf63_uc003dic.3_Missense_Mutation_p.H416L|C3orf63_uc003die.3_Missense_Mutation_p.H812L	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	812										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)										0.302326	34.665429	36.161764	13	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56675561	56675561	2332	3	T	A	A	A	663	51	C3orf63	3	3
EPHA6	285220	broad.mit.edu	37	3	97167531	97167531	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97167531C>A	uc010how.1	+	c.1851C>A	c.(1849-1851)TAC>TAA	p.Y617*	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	522	Fibronectin type-III 2.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.191489	16.544386	20.72794	9	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97167531	97167531	5364	3	C	A	A	A	220	17	EPHA6	5	2
OR5AC2	81050	broad.mit.edu	37	3	97806174	97806174	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97806174A>T	uc011bgs.1	+	c.158A>T	c.(157-159)AAC>ATC	p.N53I		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.583333	270.339387	271.285348	91	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97806174	97806174	11551	3	A	T	T	T	26	2	OR5AC2	3	3
TACR3	6870	broad.mit.edu	37	4	104510898	104510898	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104510898C>A	uc003hxe.1	-	c.1339G>T	c.(1339-1341)GCC>TCC	p.A447S		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	447	Cytoplasmic (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)										0.147541	7.153083	14.480803	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104510898	104510898	16028	4	C	A	A	A	325	25	TACR3	2	2
NDST4	64579	broad.mit.edu	37	4	115998013	115998013	+	Silent	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115998013A>G	uc003ibu.2	-	c.180T>C	c.(178-180)TAT>TAC	p.Y60Y	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	60	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.375	47.519641	48.066576	15	25	KEEP	---	---	---	---	capture		Silent	SNP	115998013	115998013	10657	4	A	G	G	G	206	16	NDST4	4	4
KIAA1109	84162	broad.mit.edu	37	4	123179859	123179859	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123179859C>T	uc003ieh.2	+	c.6623C>T	c.(6622-6624)ACA>ATA	p.T2208I	KIAA1109_uc003iel.1_Missense_Mutation_p.T143I|KIAA1109_uc003iek.2_Missense_Mutation_p.T827I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2208					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.138889	5.149599	9.690923	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123179859	123179859	8516	4	C	T	T	T	221	17	KIAA1109	2	2
FAT4	79633	broad.mit.edu	37	4	126237791	126237791	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126237791C>A	uc003ifj.3	+	c.225C>A	c.(223-225)AGC>AGA	p.S75R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	75	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10												OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.210526	17.531615	20.43955	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126237791	126237791	5928	4	C	A	A	A	350	27	FAT4	1	1
PCDH18	54510	broad.mit.edu	37	4	138442797	138442797	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138442797A>T	uc003ihe.3	-	c.2794T>A	c.(2794-2796)TGG>AGG	p.W932R	PCDH18_uc003ihf.3_Missense_Mutation_p.W924R|PCDH18_uc011cgz.1_Missense_Mutation_p.W143R|PCDH18_uc003ihg.3_Missense_Mutation_p.W711R|PCDH18_uc011cha.1_Missense_Mutation_p.W112R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	932	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.186047	40.421687	52.347591	24	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138442797	138442797	11933	4	A	T	T	T	91	7	PCDH18	3	3
PET112L	5188	broad.mit.edu	37	4	152622522	152622522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:152622522G>A	uc003iml.2	-	c.1156C>T	c.(1156-1158)CAA>TAA	p.Q386*		NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	386						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)									0.25	17.382131	19.202415	8	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152622522	152622522	12155	4	G	A	A	A	611	47	PET112L	5	2
KLF3	51274	broad.mit.edu	37	4	38690565	38690565	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38690565G>T	uc003gth.3	+	c.417G>T	c.(415-417)CCG>CCT	p.P139P	KLF3_uc003gtg.2_Silent_p.P139P	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	139	Pro-rich.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2														0.382979	45.140791	45.703541	18	29	KEEP	---	---	---	---	capture		Silent	SNP	38690565	38690565	8659	4	G	T	T	T	496	39	KLF3	1	1
LYAR	55646	broad.mit.edu	37	4	4275346	4275346	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4275346C>A	uc011bvy.1	-	c.883G>T	c.(883-885)GGC>TGC	p.G295C	LYAR_uc011bvx.1_Missense_Mutation_p.G178C|LYAR_uc003ght.2_Missense_Mutation_p.G295C	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	295	Lys-rich.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.146667	13.223046	22.1875	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4275346	4275346	9480	4	C	A	A	A	286	22	LYAR	2	2
COMMD8	54951	broad.mit.edu	37	4	47455122	47455122	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47455122C>T	uc003gxi.2	-	c.485G>A	c.(484-486)AGA>AAA	p.R162K		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	162	COMM.						protein binding				0														0.162791	12.195306	16.845535	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47455122	47455122	3860	4	C	T	T	T	416	32	COMMD8	2	2
TEC	7006	broad.mit.edu	37	4	48147476	48147476	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48147476C>A	uc003gxz.2	-	c.1202G>T	c.(1201-1203)CGG>CTG	p.R401L		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	401	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(1)	5										498				0.323077	48.656387	50.460848	21	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48147476	48147476	16269	4	C	A	A	A	299	23	TEC	1	1
EPHA5	2044	broad.mit.edu	37	4	66356315	66356315	+	Silent	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66356315T>A	uc011cah.1	-	c.1182A>T	c.(1180-1182)GCA>GCT	p.A394A	EPHA5_uc003hcx.2_Silent_p.A325A|EPHA5_uc003hcy.2_Silent_p.A394A|EPHA5_uc003hcz.2_Silent_p.A394A|EPHA5_uc011cai.1_Silent_p.A394A|EPHA5_uc003hda.2_Silent_p.A394A	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	394	Fibronectin type-III 1.|Extracellular (Potential).				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.214286	21.361052	24.520368	9	33	KEEP	---	---	---	---	capture		Silent	SNP	66356315	66356315	5363	4	T	A	A	A	652	51	EPHA5	3	3
C4orf35	85438	broad.mit.edu	37	4	71200918	71200918	+	Nonsense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71200918T>A	uc003hff.2	+	c.162T>A	c.(160-162)TAT>TAA	p.Y54*		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	54						flagellum	calcium ion binding				0		all_hematologic(202;0.196)												0.15625	15.031963	22.235319	10	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	71200918	71200918	2360	4	T	A	A	A	634	49	C4orf35	5	3
ALB	213	broad.mit.edu	37	4	74277728	74277728	+	Silent	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74277728G>C	uc003hgs.3	+	c.729G>C	c.(727-729)CTG>CTC	p.L243L	ALB_uc003hgw.3_Silent_p.L51L|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.L243L|ALB_uc010iii.2_Silent_p.L128L|ALB_uc003hgu.3_Silent_p.L93L|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.L133L|ALB_uc010iij.2_Non-coding_Transcript|ALB_uc003hgx.3_5'UTR	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	243	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.14	13.589706	19.847331	7	43	KEEP	---	---	---	---	capture		Silent	SNP	74277728	74277728	489	4	G	C	C	C	574	45	ALB	3	3
CCDC158	339965	broad.mit.edu	37	4	77234393	77234393	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77234393G>T	uc003hkb.3	-	c.3272C>A	c.(3271-3273)TCT>TAT	p.S1091Y		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1091	Potential.									ovary(2)|pancreas(1)	3														0.357143	12.170207	12.422192	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77234393	77234393	2912	4	G	T	T	T	429	33	CCDC158	2	2
ANKRD56	345079	broad.mit.edu	37	4	77817346	77817346	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77817346C>A	uc003hki.2	-	c.1657G>T	c.(1657-1659)GAG>TAG	p.E553*		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	553											0														0.242424	16.180518	18.179902	8	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77817346	77817346	690	4	C	A	A	A	416	32	ANKRD56	5	2
PDHA2	5161	broad.mit.edu	37	4	96761790	96761790	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96761790C>T	uc003htr.3	+	c.489C>T	c.(487-489)GGC>GGT	p.G163G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	163					glycolysis|oxidation-reduction process	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)									0.214286	15.947016	19.119087	9	33	KEEP	---	---	---	---	capture		Silent	SNP	96761790	96761790	12086	4	C	T	T	T	314	25	PDHA2	2	2
CDKL3	51265	broad.mit.edu	37	5	133541766	133541766	+	Silent	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:133541766A>G	uc011cxm.1	-	c.1197T>C	c.(1195-1197)ACT>ACC	p.T399T	CDKL3_uc011cxn.1_Non-coding_Transcript|PPP2CA_uc003kze.2_Silent_p.T53T	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	Error:Variant_position_missing_in_Q8IVW4_after_alignment					protein phosphorylation	cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)							391				0.327273	50.132889	51.58733	18	37	KEEP	---	---	---	---	capture		Silent	SNP	133541766	133541766	3284	5	A	G	G	G	80	7	CDKL3	4	4
TRPC7	57113	broad.mit.edu	37	5	135567123	135567123	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135567123G>A	uc003lbn.1	-	c.1956C>T	c.(1954-1956)TAC>TAT	p.Y652Y	TRPC7_uc010jef.1_Silent_p.Y589Y|TRPC7_uc010jeg.1_Non-coding_Transcript|TRPC7_uc010jeh.1_Silent_p.Y583Y|TRPC7_uc010jei.1_Silent_p.Y528Y|TRPC7_uc010jej.1_Silent_p.Y204Y	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	653	Helical; (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)											0.266667	7.790513	8.530611	4	11	KEEP	---	---	---	---	capture		Silent	SNP	135567123	135567123	17135	5	G	A	A	A	516	40	TRPC7	1	1
SLC4A9	83697	broad.mit.edu	37	5	139751895	139751895	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139751895G>A	uc003lfm.2	+	c.2811G>A	c.(2809-2811)CTG>CTA	p.L937L	SLC4A9_uc003lfj.2_Silent_p.L913L|SLC4A9_uc011czg.1_Silent_p.L850L|SLC4A9_uc003lfl.2_Silent_p.L913L|SLC4A9_uc003lfk.2_Silent_p.L899L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	937	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.36	20.960718	21.395012	9	16	KEEP	---	---	---	---	capture		Silent	SNP	139751895	139751895	15157	5	G	A	A	A	600	47	SLC4A9	2	2
PCDHB3	56132	broad.mit.edu	37	5	140481424	140481424	+	Silent	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481424A>G	uc003lio.2	+	c.1191A>G	c.(1189-1191)GTA>GTG	p.V397V		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	397	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.179104	29.464902	35.951239	12	55	KEEP	---	---	---	---	capture		Silent	SNP	140481424	140481424	11963	5	A	G	G	G	184	15	PCDHB3	4	4
PCDHB10	56126	broad.mit.edu	37	5	140574229	140574229	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140574229C>A	uc003lix.2	+	c.2104C>A	c.(2104-2106)CTC>ATC	p.L702I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	702	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.178571	24.122112	32.275222	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140574229	140574229	11955	5	C	A	A	A	364	28	PCDHB10	2	2
PCDH12	51294	broad.mit.edu	37	5	141336580	141336580	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141336580C>T	uc003llx.2	-	c.837G>A	c.(835-837)GTG>GTA	p.V279V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	279	Extracellular (Potential).|Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.24359	39.014864	43.672308	19	59	KEEP	---	---	---	---	capture		Silent	SNP	141336580	141336580	11930	5	C	T	T	T	262	21	PCDH12	2	2
SH3TC2	79628	broad.mit.edu	37	5	148388514	148388514	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148388514G>T	uc003lpu.2	-	c.3378C>A	c.(3376-3378)CTC>CTA	p.L1126L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Silent_p.L770L|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Silent_p.L673L|SH3TC2_uc010jgx.2_Silent_p.L1119L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1126	TPR 6.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.184211	34.118168	44.781609	21	93	KEEP	---	---	---	---	capture		Silent	SNP	148388514	148388514	14754	5	G	T	T	T	522	41	SH3TC2	2	2
NDST1	3340	broad.mit.edu	37	5	149919745	149919745	+	Silent	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149919745C>G	uc003lsk.3	+	c.1668C>G	c.(1666-1668)CTC>CTG	p.L556L	NDST1_uc011dcj.1_Silent_p.L556L	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	556	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)											0.137255	13.990126	20.482551	7	44	KEEP	---	---	---	---	capture		Silent	SNP	149919745	149919745	10654	5	C	G	G	G	379	30	NDST1	3	3
FAT2	2196	broad.mit.edu	37	5	150897191	150897191	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150897191A>T	uc003lue.3	-	c.11453T>A	c.(11452-11454)GTC>GAC	p.V3818D	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V511D	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3818	Extracellular (Potential).|Laminin G-like.				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)											0.275	26.012503	27.833613	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150897191	150897191	5926	5	A	T	T	T	130	10	FAT2	3	3
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154395374G>A	uc010jih.1	+	c.1955G>A	c.(1954-1956)CGT>CAT	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652	Potential.				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)											0.16	14.970486	23.219882	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154395374	154395374	8615	5	G	A	A	A	520	40	KIF4B	1	1
FAM71B	153745	broad.mit.edu	37	5	156590618	156590618	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156590618G>C	uc003lwn.2	-	c.658C>G	c.(658-660)CCT>GCT	p.P220A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	220						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.376623	80.400259	81.447467	29	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156590618	156590618	5831	5	G	C	C	C	546	42	FAM71B	3	3
MARCH11	441061	broad.mit.edu	37	5	16177941	16177941	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16177941T>A	uc003jfo.2	-	c.587A>T	c.(586-588)CAT>CTT	p.H196L		NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	196	RING-CH-type.					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.461538	56.164632	56.212269	18	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16177941	16177941	9683	5	T	A	A	A	663	51	MARCH11	3	3
ODZ2	57451	broad.mit.edu	37	5	167625975	167625975	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167625975C>A	uc010jjd.2	+	c.2991C>A	c.(2989-2991)ACC>ACA	p.T997T	ODZ2_uc003lzr.3_Silent_p.T774T|ODZ2_uc003lzt.3_Silent_p.T370T|ODZ2_uc010jje.2_Silent_p.T268T	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)										0.384615	36.935707	37.347226	15	24	KEEP	---	---	---	---	capture		Silent	SNP	167625975	167625975	11240	5	C	A	A	A	275	22	ODZ2	2	2
HK3	3101	broad.mit.edu	37	5	176308331	176308331	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176308331C>A	uc003mfa.2	-	c.2599G>T	c.(2599-2601)GAT>TAT	p.D867Y	HK3_uc003mez.2_Missense_Mutation_p.D423Y	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	867	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.226804	36.68432	43.355246	22	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176308331	176308331	7483	5	C	A	A	A	390	30	HK3	2	2
FLT4	2324	broad.mit.edu	37	5	180052973	180052973	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180052973G>T	uc003mlz.3	-	c.1317C>A	c.(1315-1317)AGC>AGA	p.S439R	FLT4_uc003mma.3_Missense_Mutation_p.S439R|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.S439R	NM_182925	NP_891555	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 1	439	Ig-like C2-type 5.|Extracellular (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				0.403846	54.265046	54.684738	21	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180052973	180052973	6186	5	G	T	T	T	542	42	FLT4	2	2
PDZD2	23037	broad.mit.edu	37	5	32077588	32077588	+	Silent	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32077588C>G	uc003jhl.2	+	c.3558C>G	c.(3556-3558)ACC>ACG	p.T1186T	PDZD2_uc003jhm.2_Silent_p.T1186T|PDZD2_uc011cnx.1_Silent_p.T1012T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1186					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.109375	5.783963	15.455129	7	57	KEEP	---	---	---	---	capture		Silent	SNP	32077588	32077588	12122	5	C	G	G	G	262	21	PDZD2	3	3
HCN1	348980	broad.mit.edu	37	5	45262863	45262863	+	Silent	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262863A>G	uc003jok.2	-	c.1833T>C	c.(1831-1833)ACT>ACC	p.T611T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	611	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.328125	55.877967	57.59568	21	43	KEEP	---	---	---	---	capture		Silent	SNP	45262863	45262863	7278	5	A	G	G	G	80	7	HCN1	4	4
ADAMTS16	170690	broad.mit.edu	37	5	5303444	5303444	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5303444C>A	uc003jdl.2	+	c.2853C>A	c.(2851-2853)CCC>CCA	p.P951P	ADAMTS16_uc003jdk.1_Silent_p.P951P	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	951	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.5	15.376451	15.376451	5	5	KEEP	---	---	---	---	capture		Silent	SNP	5303444	5303444	262	5	C	A	A	A	288	23	ADAMTS16	1	1
NSUN2	54888	broad.mit.edu	37	5	6625775	6625775	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:6625775C>T	uc003jdu.2	-	c.367G>A	c.(367-369)GAA>AAA	p.E123K	NSUN2_uc011cmk.1_Missense_Mutation_p.E88K|NSUN2_uc003jdv.2_5'UTR	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	123						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1														0.285714	22.331618	23.776596	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6625775	6625775	11083	5	C	T	T	T	377	29	NSUN2	2	2
SPATA9	83890	broad.mit.edu	37	5	95011279	95011279	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:95011279C>A	uc003klj.1	-	c.215G>T	c.(214-216)CGA>CTA	p.R72L	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	72					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)										0.237288	31.739017	35.448325	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95011279	95011279	15526	5	C	A	A	A	403	31	SPATA9	1	1
DSE	29940	broad.mit.edu	37	6	116758380	116758380	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116758380G>T	uc011ebg.1	+	c.2806G>T	c.(2806-2808)GCA>TCA	p.A936S	DSE_uc003pws.2_Missense_Mutation_p.A917S|DSE_uc003pwt.2_Missense_Mutation_p.A917S|DSE_uc003pwu.2_Missense_Mutation_p.A584S	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	917	Helical; (Potential).				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.275	25.306004	27.13122	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116758380	116758380	4958	6	G	T	T	T	546	42	DSE	2	2
MYCT1	80177	broad.mit.edu	37	6	153043128	153043128	+	Silent	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:153043128C>T	uc003qpd.3	+	c.448C>T	c.(448-450)CTG>TTG	p.L150L	MYCT1_uc010kjc.1_Silent_p.L102L|MYCT1_uc003qpc.3_Silent_p.L150L	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	150						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)										0.25	25.494571	28.003071	11	33	KEEP	---	---	---	---	capture		Silent	SNP	153043128	153043128	10417	6	C	T	T	T	311	24	MYCT1	2	2
RNF144B	255488	broad.mit.edu	37	6	18399923	18399923	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:18399923G>C	uc003ncs.2	+	c.158G>C	c.(157-159)TGC>TCC	p.C53S		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	IBR domain containing 2	53	RING-type 1; atypical.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)											0.146341	11.622578	16.551956	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18399923	18399923	13923	6	G	C	C	C	598	46	RNF144B	3	3
MEP1A	4224	broad.mit.edu	37	6	46801130	46801130	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46801130G>A	uc011dwh.1	+	c.1548G>A	c.(1546-1548)GTG>GTA	p.V516V	MEP1A_uc010jzh.1_Silent_p.V488V|MEP1A_uc011dwg.1_Silent_p.V210V|MEP1A_uc011dwi.1_Silent_p.V388V	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	488	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)											0.100671	5.313187	29.046464	15	134	KEEP	---	---	---	---	capture		Silent	SNP	46801130	46801130	9864	6	G	A	A	A	613	48	MEP1A	2	2
C6orf138	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846657G>T	uc011dwm.1	-	c.1872C>A	c.(1870-1872)ATC>ATA	p.I624I	C6orf138_uc011dwn.1_Silent_p.I388I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	641						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.319149	77.313252	80.047453	30	64	KEEP	---	---	---	---	capture		Silent	SNP	47846657	47846657	2435	6	G	T	T	T	473	37	C6orf138	1	1
CRISP1	167	broad.mit.edu	37	6	49808671	49808671	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49808671A>G	uc003ozw.2	-	c.473T>C	c.(472-474)ATT>ACT	p.I158T	CRISP1_uc003ozx.2_Missense_Mutation_p.I158T	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	158					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)													0.25	15.264342	16.611601	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49808671	49808671	4018	6	A	G	G	G	52	4	CRISP1	4	4
GPR85	54329	broad.mit.edu	37	7	112723734	112723734	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112723734C>A	uc010ljv.2	-	c.1043G>T	c.(1042-1044)CGC>CTC	p.R348L	GPR85_uc003vgp.1_Missense_Mutation_p.R348L|GPR85_uc003vgq.2_Missense_Mutation_p.R348L|GPR85_uc010ljw.1_Missense_Mutation_p.R348L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	348	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.303571	43.779088	45.69377	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112723734	112723734	6990	7	C	A	A	A	351	27	GPR85	1	1
TAS2R16	50833	broad.mit.edu	37	7	122635568	122635568	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635568T>A	uc003vkl.1	-	c.121A>T	c.(121-123)AGG>TGG	p.R41W		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	41	Cytoplasmic (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														0.25	19.82659	22.103375	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635568	122635568	16091	7	T	A	A	A	726	56	TAS2R16	3	3
TSGA14	95681	broad.mit.edu	37	7	130044546	130044546	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130044546T>G	uc003vpz.2	-	c.281A>C	c.(280-282)AAT>ACT	p.N94T	TSGA14_uc010lmf.2_5'UTR|TSGA14_uc003vqa.2_Missense_Mutation_p.N94T|TSGA14_uc011kpg.1_Missense_Mutation_p.N78T	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	94					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)													0.428571	49.121682	49.276945	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130044546	130044546	17171	7	T	G	G	G	676	52	TSGA14	4	4
DGKI	9162	broad.mit.edu	37	7	137170141	137170141	+	Silent	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137170141G>C	uc003vtt.2	-	c.2406C>G	c.(2404-2406)GGC>GGG	p.G802G	DGKI_uc003vtu.2_Silent_p.G502G	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	802					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2														0.181818	5.343227	6.389316	2	9	KEEP	---	---	---	---	capture		Silent	SNP	137170141	137170141	4650	7	G	C	C	C	431	34	DGKI	3	3
KIAA1549	57670	broad.mit.edu	37	7	138546052	138546052	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138546052C>A	uc011kql.1	-	c.5080G>T	c.(5080-5082)GCC>TCC	p.A1694S	KIAA1549_uc011kqi.1_Missense_Mutation_p.A478S|KIAA1549_uc003vuk.3_Missense_Mutation_p.A1644S|KIAA1549_uc011kqj.1_Missense_Mutation_p.A1694S|KIAA1549_uc011kqk.1_Missense_Mutation_p.A478S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1694						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.28	18.619162	19.70411	7	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138546052	138546052	8553	7	C	A	A	A	351	27	KIAA1549	1	1
CNTNAP2	26047	broad.mit.edu	37	7	147183029	147183029	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147183029G>T	uc003weu.1	+	c.1673G>T	c.(1672-1674)TGT>TTT	p.C558F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	558	EGF-like 1.|Extracellular (Potential).				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)											0.333333	57.590358	59.293638	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147183029	147183029	3785	7	G	T	T	T	624	48	CNTNAP2	2	2
CARD11	84433	broad.mit.edu	37	7	2962898	2962898	+	Silent	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2962898C>G	uc003smv.2	-	c.2010G>C	c.(2008-2010)ACG>ACC	p.T670T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	670	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.151515	17.399246	25.094676	10	56	KEEP	---	---	---	---	capture		Silent	SNP	2962898	2962898	2764	7	C	G	G	G	340	27	CARD11	3	3
CCDC129	223075	broad.mit.edu	37	7	31617846	31617846	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31617846A>G	uc011kae.1	+	c.1046A>G	c.(1045-1047)GAT>GGT	p.D349G	CCDC129_uc011kad.1_Missense_Mutation_p.D333G|CCDC129_uc003tcj.1_Missense_Mutation_p.D323G|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.D231G	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	323											0														0.266667	24.190187	25.663072	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31617846	31617846	2884	7	A	G	G	G	156	12	CCDC129	4	4
SDK1	221935	broad.mit.edu	37	7	4153064	4153064	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4153064G>T	uc003smx.2	+	c.3578G>T	c.(3577-3579)CGC>CTC	p.R1193L	SDK1_uc010kso.2_Missense_Mutation_p.R469L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1193	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.221154	50.686074	58.118659	23	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4153064	4153064	14454	7	G	T	T	T	494	38	SDK1	1	1
HUS1	3364	broad.mit.edu	37	7	48007507	48007507	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48007507T>A	uc003tod.1	-	c.656A>T	c.(655-657)CAT>CTT	p.H219L	HUS1_uc003toe.1_Missense_Mutation_p.H219L|HUS1_uc011kce.1_Non-coding_Transcript	NM_004507	NP_004498	O60921	HUS1_HUMAN	HUS1 checkpoint protein	219					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			ovary(1)|lung(1)|kidney(1)	3		Breast(660;0.00139)				Ovarian(103;466 1517 21788 34610 43890)								0.395833	56.730093	57.180645	19	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48007507	48007507	7759	7	T	A	A	A	663	51	HUS1	3	3
HSPB1	3315	broad.mit.edu	37	7	75933446	75933446	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:75933446G>T	uc003uew.2	+	c.574G>T	c.(574-576)GGG>TGG	p.G192W	HSPB1_uc010ldj.1_Non-coding_Transcript	NM_001540	NP_001531	P04792	HSPB1_HUMAN	heat shock protein beta-1	192	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding				0										91				0.5	11.56946	11.56946	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75933446	75933446	7717	7	G	T	T	T	611	47	HSPB1	2	2
PCLO	27445	broad.mit.edu	37	7	82595113	82595113	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82595113G>C	uc003uhx.2	-	c.3991C>G	c.(3991-3993)CAG>GAG	p.Q1331E	PCLO_uc003uhv.2_Missense_Mutation_p.Q1331E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.204082	26.3206	30.304069	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82595113	82595113	12003	7	G	C	C	C	585	45	PCLO	3	3
KCNV1	27012	broad.mit.edu	37	8	110980325	110980325	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110980325A>G	uc003ynr.3	-	c.1495T>C	c.(1495-1497)TGG>CGG	p.W499R	KCNV1_uc010mcw.2_Missense_Mutation_p.W499R	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	499	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)											0.162791	11.30231	15.948493	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110980325	110980325	8399	8	A	G	G	G	91	7	KCNV1	4	4
CSMD3	114788	broad.mit.edu	37	8	113246620	113246620	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113246620C>A	uc003ynu.2	-	c.10714G>T	c.(10714-10716)GAA>TAA	p.E3572*	CSMD3_uc003yns.2_Nonsense_Mutation_p.E2774*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E3532*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E3403*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3572	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.433333	66.02895	66.263316	26	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113246620	113246620	4087	8	C	A	A	A	390	30	CSMD3	5	2
OC90	729330	broad.mit.edu	37	8	133044267	133044267	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133044267T>A	uc003ytg.2	-	c.892A>T	c.(892-894)AGT>TGT	p.S298C	OC90_uc011lix.1_Missense_Mutation_p.S298C	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	314					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)											0.120482	6.187881	17.926689	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133044267	133044267	11219	8	T	A	A	A	728	56	OC90	3	3
COL22A1	169044	broad.mit.edu	37	8	139833476	139833476	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139833476G>T	uc003yvd.2	-	c.1148C>A	c.(1147-1149)GCG>GAG	p.A383E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	383	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.1125	7.629396	19.484436	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139833476	139833476	3819	8	G	T	T	T	494	38	COL22A1	1	1
PTK2B	2185	broad.mit.edu	37	8	27277505	27277505	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27277505G>T	uc003xfn.1	+	c.298G>T	c.(298-300)GAT>TAT	p.D100Y	PTK2B_uc003xfo.1_Missense_Mutation_p.D100Y|PTK2B_uc003xfp.1_Missense_Mutation_p.D100Y|PTK2B_uc003xfq.1_Missense_Mutation_p.D100Y	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	100	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			ovary(1)|skin(1)	2		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)						347				0.263158	10.865073	11.830188	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27277505	27277505	13218	8	G	T	T	T	481	37	PTK2B	1	1
CYP7B1	9420	broad.mit.edu	37	8	65537096	65537096	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:65537096C>A	uc003xvj.2	-	c.123G>T	c.(121-123)AGG>AGT	p.R41S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	41					bile acid biosynthetic process|cell death|cholesterol metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)												0.166667	9.441886	13.837003	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65537096	65537096	4362	8	C	A	A	A	389	30	CYP7B1	2	2
PI15	51050	broad.mit.edu	37	8	75756215	75756215	+	Splice_Site_SNP	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75756215G>T	uc003yal.2	+	c.274_splice	c.e3-1	p.V92_splice	PI15_uc003yam.2_Splice_Site_SNP_p.V92_splice	NM_015886	NP_056970			protease inhibitor 15 preproprotein							extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)											0.303571	37.523636	39.471444	17	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	75756215	75756215	12292	8	G	T	T	T	455	35	PI15	5	2
CA3	761	broad.mit.edu	37	8	86352059	86352059	+	Silent	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86352059T>C	uc003ydj.2	+	c.153T>C	c.(151-153)TAT>TAC	p.Y51Y	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.1_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	51					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.176471	15.462621	20.49195	9	42	KEEP	---	---	---	---	capture		Silent	SNP	86352059	86352059	2633	8	T	C	C	C	660	51	CA3	4	4
CNBD1	168975	broad.mit.edu	37	8	88249177	88249177	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88249177T>A	uc003ydy.2	+	c.608T>A	c.(607-609)CTG>CAG	p.L203Q		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	203										ovary(3)	3														0.186441	19.188194	24.627936	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88249177	88249177	3729	8	T	A	A	A	715	55	CNBD1	3	3
MMP16	4325	broad.mit.edu	37	8	89053837	89053837	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89053837G>T	uc003yeb.3	-	c.1676C>A	c.(1675-1677)GCC>GAC	p.A559D		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	559	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														0.115942	7.651047	17.67204	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89053837	89053837	10045	8	G	T	T	T	546	42	MMP16	2	2
COL15A1	1306	broad.mit.edu	37	9	101810095	101810095	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101810095G>A	uc004azb.1	+	c.2707G>A	c.(2707-2709)GGA>AGA	p.G903R		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	903	Triple-helical region 5 (COL5).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.118421	16.572767	38.505953	18	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101810095	101810095	3810	9	G	A	A	A	455	35	COL15A1	2	2
CYLC2	1539	broad.mit.edu	37	9	105767937	105767937	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105767937G>C	uc004bbs.2	+	c.1024G>C	c.(1024-1026)GAT>CAT	p.D342H		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	342	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)												0.25	14.507884	15.901607	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105767937	105767937	4307	9	G	C	C	C	533	41	CYLC2	3	3
EPB41L4B	54566	broad.mit.edu	37	9	112025334	112025334	+	Silent	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112025334T>C	uc004bdz.1	-	c.627A>G	c.(625-627)CTA>CTG	p.L209L	EPB41L4B_uc004bea.2_Silent_p.L209L	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	209	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2														0.25	8.7284	9.403952	3	9	KEEP	---	---	---	---	capture		Silent	SNP	112025334	112025334	5349	9	T	C	C	C	730	57	EPB41L4B	4	4
PTPN3	5774	broad.mit.edu	37	9	112144670	112144670	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112144670C>G	uc004bed.2	-	c.2440G>C	c.(2440-2442)GTG>CTG	p.V814L	PTPN3_uc004beb.2_Missense_Mutation_p.V683L|PTPN3_uc004bec.2_Missense_Mutation_p.V638L|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.V769L|PTPN3_uc011lwh.1_Missense_Mutation_p.V660L|PTPN3_uc011lwd.1_Missense_Mutation_p.V282L|PTPN3_uc011lwe.1_Missense_Mutation_p.V527L|PTPN3_uc011lwf.1_Missense_Mutation_p.V482L	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	814	Tyrosine-protein phosphatase.			V -> I (in Ref. 1; AAA35647 and 5; AAB22439).	negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3														0.275	32.92673	34.738472	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112144670	112144670	13246	9	C	G	G	G	221	17	PTPN3	3	3
SNAPC4	6621	broad.mit.edu	37	9	139276314	139276314	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139276314G>A	uc004chh.2	-	c.2279C>T	c.(2278-2280)ACA>ATA	p.T760I		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	760					regulation of transcription, DNA-dependent|snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)										0.526316	52.893516	52.916008	20	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139276314	139276314	15337	9	G	A	A	A	624	48	SNAPC4	2	2
ADAMTSL1	92949	broad.mit.edu	37	9	18826354	18826354	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18826354G>C	uc003zne.3	+	c.4007G>C	c.(4006-4008)GGC>GCC	p.G1336A	ADAMTSL1_uc003znf.3_Missense_Mutation_p.G37A	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.153846	7.184275	10.16221	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18826354	18826354	275	9	G	C	C	C	546	42	ADAMTSL1	3	3
PLIN2	123	broad.mit.edu	37	9	19119764	19119764	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19119764C>A	uc003zno.2	-	c.661G>T	c.(661-663)GGA>TGA	p.G221*	PLIN2_uc011lna.1_Nonsense_Mutation_p.G193*|PLIN2_uc011lnb.1_Missense_Mutation_p.W177C	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	221					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(1)	1														0.291045	84.063052	89.311368	39	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19119764	19119764	12516	9	C	A	A	A	286	22	PLIN2	5	2
KIAA1797	54914	broad.mit.edu	37	9	20717802	20717802	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20717802C>T	uc003zog.1	+	c.67C>T	c.(67-69)CAT>TAT	p.H23Y		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	23						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)										0.5	24.57221	24.57221	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20717802	20717802	8569	9	C	T	T	T	377	29	KIAA1797	2	2
C9orf131	138724	broad.mit.edu	37	9	35045314	35045314	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35045314C>A	uc003zvw.2	+	c.2688C>A	c.(2686-2688)AGC>AGA	p.S896R	C9orf131_uc003zvu.2_Missense_Mutation_p.S848R|C9orf131_uc003zvv.2_Missense_Mutation_p.S823R|C9orf131_uc003zvx.2_Missense_Mutation_p.S861R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	896											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)											0.193939	57.144515	71.544926	32	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35045314	35045314	2570	9	C	A	A	A	337	26	C9orf131	2	2
TMC1	117531	broad.mit.edu	37	9	75450879	75450879	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:75450879G>T	uc004aiz.1	+	c.2273G>T	c.(2272-2274)GGT>GTT	p.G758V	TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.G612V|TMC1_uc010mpa.1_Missense_Mutation_p.V595F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	758	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.24	12.835527	14.379961	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75450879	75450879	16514	9	G	T	T	T	572	44	TMC1	2	2
PTPRD	5789	broad.mit.edu	37	9	8492981	8492981	+	Splice_Site_SNP	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8492981T>C	uc003zkk.2	-	c.2350_splice	c.e26-1	p.D784_splice	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Splice_Site_SNP_p.D775_splice|PTPRD_uc003zkm.2_Splice_Site_SNP_p.D771_splice|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						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)					(OVK18-Tumor)	1253	TSP Lung(15;0.13)			0.231884	32.548832	37.115089	16	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8492981	8492981	13256	9	T	C	C	C	715	55	PTPRD	5	4
C9orf79	286234	broad.mit.edu	37	9	90499889	90499889	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90499889G>C	uc004app.3	+	c.487G>C	c.(487-489)GGG>CGG	p.G163R	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	163						integral to membrane				ovary(3)	3														0.575	75.122389	75.318927	23	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90499889	90499889	2613	9	G	C	C	C	559	43	C9orf79	3	3
DCAF12L1	139170	broad.mit.edu	37	X	125685889	125685889	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125685889T>A	uc004eul.2	-	c.703A>T	c.(703-705)AGC>TGC	p.S235C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	235										skin(3)	3														0.352941	41.228134	42.203372	18	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125685889	125685889	4435	23	T	A	A	A	689	53	DCAF12L1	3	3
OCRL	4952	broad.mit.edu	37	X	128691359	128691359	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128691359C>A	uc004euq.2	+	c.296C>A	c.(295-297)CCT>CAT	p.P99H	OCRL_uc004eur.2_Missense_Mutation_p.P99H	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	99					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			lung(2)|ovary(1)|kidney(1)	4														0.511111	60.919337	60.924089	23	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128691359	128691359	11228	23	C	A	A	A	312	24	OCRL	2	2
GPR112	139378	broad.mit.edu	37	X	135426564	135426564	+	Silent	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135426564T>C	uc004ezu.1	+	c.699T>C	c.(697-699)AAT>AAC	p.N233N	GPR112_uc010nsb.1_Silent_p.N28N|GPR112_uc010nsc.1_5'UTR	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	233	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				0.333333	34.418657	35.228149	11	22	KEEP	---	---	---	---	capture		Silent	SNP	135426564	135426564	6903	23	T	C	C	C	634	49	GPR112	4	4
GPR112	139378	broad.mit.edu	37	X	135428319	135428319	+	Silent	SNP	A	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428319A>C	uc004ezu.1	+	c.2454A>C	c.(2452-2454)GTA>GTC	p.V818V	GPR112_uc010nsb.1_Silent_p.V613V|GPR112_uc010nsc.1_Silent_p.V585V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	818	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				0.427083	135.673883	136.115685	41	55	KEEP	---	---	---	---	capture		Silent	SNP	135428319	135428319	6903	23	A	C	C	C	197	16	GPR112	4	4
ATP11C	286410	broad.mit.edu	37	X	138856885	138856885	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138856885A>T	uc004faz.2	-	c.2189T>A	c.(2188-2190)CTG>CAG	p.L730Q	ATP11C_uc004fay.2_Non-coding_Transcript|ATP11C_uc004fba.2_Missense_Mutation_p.L730Q	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	730	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)													0.389831	68.219766	68.844158	23	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138856885	138856885	1140	23	A	T	T	T	91	7	ATP11C	3	3
GLRA2	2742	broad.mit.edu	37	X	14748344	14748344	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14748344C>A	uc010nep.2	+	c.1096C>A	c.(1096-1098)CGT>AGT	p.R366S	GLRA2_uc010neq.2_Missense_Mutation_p.R366S|GLRA2_uc004cwe.3_Missense_Mutation_p.R366S|GLRA2_uc011mio.1_Missense_Mutation_p.R277S|GLRA2_uc011mip.1_Missense_Mutation_p.R344S	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	366	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.170616	64.972977	86.625461	36	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14748344	14748344	6723	23	C	A	A	A	403	31	GLRA2	1	1
CXorf40B	541578	broad.mit.edu	37	X	149100952	149100952	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149100952G>T	uc004fdy.2	-	c.287C>A	c.(286-288)CCC>CAC	p.P96H	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	96											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.431818	46.008792	46.188594	19	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149100952	149100952	4270	23	G	T	T	T	559	43	CXorf40B	2	2
MTM1	4534	broad.mit.edu	37	X	149832038	149832038	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149832038T>C	uc004fef.3	+	c.1600T>C	c.(1600-1602)TGG>CGG	p.W534R	MTM1_uc011mxx.1_Non-coding_Transcript|MTM1_uc011mxy.1_Missense_Mutation_p.W497R|MTM1_uc011mxz.1_Missense_Mutation_p.W419R|MTM1_uc010nte.2_Missense_Mutation_p.W402R	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	534	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			ovary(1)|kidney(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.530303	110.828038	110.880892	35	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149832038	149832038	10330	23	T	C	C	C	715	55	MTM1	4	4
IDH3G	3421	broad.mit.edu	37	X	153052271	153052271	+	Silent	SNP	G	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153052271G>A	uc004fip.2	-	c.909C>T	c.(907-909)TAC>TAT	p.Y303Y	IDH3G_uc004fio.2_Silent_p.Y245Y|IDH3G_uc004fiq.2_Silent_p.Y303Y|IDH3G_uc010num.2_Silent_p.Y245Y|IDH3G_uc004fir.2_Silent_p.Y245Y|IDH3G_uc004fit.1_Silent_p.Y303Y|IDH3G_uc004fis.2_Silent_p.Y245Y|IDH3G_uc004fiu.2_Silent_p.Y79Y	NM_004135	NP_004126	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma isoform	303					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)									0.452991	128.73938	128.966303	53	64	KEEP	---	---	---	---	capture		Silent	SNP	153052271	153052271	7798	23	G	A	A	A	516	40	IDH3G	1	1
SLC10A3	8273	broad.mit.edu	37	X	153716544	153716544	+	Nonsense_Mutation	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153716544T>A	uc004flq.2	-	c.736A>T	c.(736-738)AAG>TAG	p.K246*	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Nonsense_Mutation_p.K217*|SLC10A3_uc004flp.2_Nonsense_Mutation_p.K246*	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	246					organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.373134	125.434815	127.320326	50	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153716544	153716544	14870	23	T	A	A	A	819	63	SLC10A3	5	3
FAM3A	60343	broad.mit.edu	37	X	153736186	153736186	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153736186C>A	uc004fls.1	-	c.341G>T	c.(340-342)AGC>ATC	p.S114I	FAM3A_uc004flt.1_Missense_Mutation_p.S128I|FAM3A_uc011mzp.1_Intron|FAM3A_uc004flu.1_Intron|FAM3A_uc011mzq.1_Missense_Mutation_p.S114I|FAM3A_uc004flw.1_Missense_Mutation_p.S114I	NM_021806	NP_068578	P98173	FAM3A_HUMAN	family 3, member A protein precursor	114						extracellular region				large_intestine(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.666667	15.019166	15.231847	6	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153736186	153736186	5777	23	C	A	A	A	364	28	FAM3A	2	2
TMLHE	55217	broad.mit.edu	37	X	154736681	154736681	+	Silent	SNP	G	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154736681G>T	uc004fnn.2	-	c.873C>A	c.(871-873)CTC>CTA	p.L291L	TMLHE_uc004fno.2_Silent_p.L291L|TMLHE_uc004fnp.3_Silent_p.L291L	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	291					carnitine biosynthetic process|oxidation-reduction process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.395973	141.636187	143.062604	59	90	KEEP	---	---	---	---	capture		Silent	SNP	154736681	154736681	16772	23	G	T	T	T	522	41	TMLHE	2	2
SPRY3	10251	broad.mit.edu	37	X	155003884	155003884	+	Silent	SNP	T	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155003884T>A	uc004fnq.1	+	c.351T>A	c.(349-351)CCT>CCA	p.P117P	SPRY3_uc010nvl.1_Intron	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	117					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.38961	83.535347	84.356005	30	47	KEEP	---	---	---	---	capture		Silent	SNP	155003884	155003884	15621	23	T	A	A	A	704	55	SPRY3	3	3
P2RY8	286530	broad.mit.edu	37	X	1584615	1584615	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1584615C>A	uc004cpz.2	-	c.837G>T	c.(835-837)CTG>CTT	p.L279L		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	279	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				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)												0.355556	41.885962	42.713666	16	29	KEEP	---	---	---	---	capture		Silent	SNP	1584615	1584615	11768	23	C	A	A	A	210	17	P2RY8	2	2
REPS2	9185	broad.mit.edu	37	X	17152022	17152022	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:17152022G>C	uc004cxv.1	+	c.1654G>C	c.(1654-1656)GCA>CCA	p.A552P	REPS2_uc004cxw.1_Missense_Mutation_p.A551P|REPS2_uc011miw.1_Missense_Mutation_p.A350P	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	552	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2	Hepatocellular(33;0.183)													0.333333	116.649658	119.374509	37	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17152022	17152022	13698	23	G	C	C	C	442	34	REPS2	3	3
DMD	1756	broad.mit.edu	37	X	32509489	32509489	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32509489C>A	uc004dda.1	-	c.2527G>T	c.(2527-2529)GAG>TAG	p.E843*	DMD_uc004dcz.2_Nonsense_Mutation_p.E720*|DMD_uc004dcy.1_Nonsense_Mutation_p.E839*|DMD_uc004ddb.1_Nonsense_Mutation_p.E835*|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	843	Spectrin 5.				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)												0.26	26.946293	29.559048	13	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32509489	32509489	4760	23	C	A	A	A	390	30	DMD	5	2
DMD	1756	broad.mit.edu	37	X	32663083	32663083	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32663083C>A	uc004dda.1	-	c.1147G>T	c.(1147-1149)GAG>TAG	p.E383*	DMD_uc004dcz.2_Nonsense_Mutation_p.E260*|DMD_uc004dcy.1_Nonsense_Mutation_p.E379*|DMD_uc004ddb.1_Nonsense_Mutation_p.E375*|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Nonsense_Mutation_p.E375*|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Nonsense_Mutation_p.E94*	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	383	Spectrin 1.				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)												0.282609	28.850462	30.807079	13	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32663083	32663083	4760	23	C	A	A	A	377	29	DMD	5	2
CXorf59	286464	broad.mit.edu	37	X	36103605	36103605	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:36103605A>T	uc004ddk.1	+	c.591A>T	c.(589-591)AAA>AAT	p.K197N		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	197						integral to membrane				central_nervous_system(1)	1														0.238095	10.768136	12.081839	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36103605	36103605	4279	23	A	T	T	T	11	1	CXorf59	3	3
MAOB	4129	broad.mit.edu	37	X	43652683	43652683	+	Missense_Mutation	SNP	G	C	C	rs55815323		TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:43652683G>C	uc004dfz.3	-	c.911C>G	c.(910-912)CCT>CGT	p.P304R	MAOB_uc011mkx.1_Missense_Mutation_p.P288R|MAOB_uc011mky.1_Missense_Mutation_p.P288R	NM_000898	NP_000889	P27338	AOFB_HUMAN	monoamine oxidase B	304	Cytoplasmic.				oxidation-reduction process|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			ovary(1)|central_nervous_system(1)	2					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)									0.404762	50.065649	50.398923	17	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43652683	43652683	9609	23	G	C	C	C	455	35	MAOB	3	3
FTSJ1	24140	broad.mit.edu	37	X	48341100	48341100	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48341100C>A	uc004djm.2	+	c.875C>A	c.(874-876)CCC>CAC	p.P292H	FTSJ1_uc004djl.2_Missense_Mutation_p.P290H|FTSJ1_uc004djn.1_Missense_Mutation_p.P290H|FTSJ1_uc004djo.1_Missense_Mutation_p.P292H|FTSJ1_uc004djp.1_Missense_Mutation_p.P290H|FTSJ1_uc011mlw.1_Missense_Mutation_p.P155H	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	FtsJ homolog 1 isoform a	292					rRNA methylation		methyltransferase activity|nucleic acid binding				0														0.222222	7.394966	8.670246	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48341100	48341100	6338	23	C	A	A	A	286	22	FTSJ1	2	2
USP51	158880	broad.mit.edu	37	X	55515250	55515250	+	Silent	SNP	C	A	A			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55515250C>A	uc004dun.1	-	c.123G>T	c.(121-123)GCG>GCT	p.A41A	USP51_uc011moo.1_5'Flank	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	41					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1														0.357143	12.169828	12.421972	5	9	KEEP	---	---	---	---	capture		Silent	SNP	55515250	55515250	17647	23	C	A	A	A	288	23	USP51	1	1
VSIG4	11326	broad.mit.edu	37	X	65242213	65242213	+	Silent	SNP	T	C	C			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65242213T>C	uc004dwh.2	-	c.1092A>G	c.(1090-1092)GGA>GGG	p.G364G	VSIG4_uc004dwi.2_Silent_p.G270G|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	364	Cytoplasmic (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0														0.351351	41.168181	41.887406	13	24	KEEP	---	---	---	---	capture		Silent	SNP	65242213	65242213	17793	23	T	C	C	C	743	58	VSIG4	4	4
MUC16	94025	broad.mit.edu	37	19	9067777	9067777	+	Frame_Shift_Del	DEL	C	-	-			TCGA-55-1595-01	TCGA-55-1595-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9067777_9067777delC	uc002mkp.2	-	c.19669_19669delG	c.(19669-19671)GCAfs	p.A6557fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6559	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														0.36			17	30		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	9067777	9067777	10367	19	C	-	-	-	338	26	MUC16	5	5
