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
ABCC2	1244	broad.mit.edu	37	10	101594239	101594239	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101594239C>A	uc001kqf.2	+	c.3361C>A	c.(3361-3363)CCT>ACT	p.P1121T		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1121	ABC transmembrane type-1 2.|Helical; Name=15; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.097222	5.273243	28.681161	14	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101594239	101594239	54	10	C	A	A	A	390	30	ABCC2	2	2
PKD2L1	9033	broad.mit.edu	37	10	102055997	102055997	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102055997C>T	uc001kqx.1	-	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q	PKD2L1_uc009xwm.1_Missense_Mutation_p.R366Q	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	413	Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)										0.243902	23.831042	26.281545	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102055997	102055997	12392	10	C	T	T	T	299	23	PKD2L1	1	1
GBF1	8729	broad.mit.edu	37	10	104139301	104139301	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104139301G>T	uc001kux.1	+	c.4666G>T	c.(4666-4668)GCC>TCC	p.A1556S	GBF1_uc001kuy.1_Missense_Mutation_p.A1552S|GBF1_uc001kuz.1_Missense_Mutation_p.A1553S	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1556					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)										0.119718	22.880068	43.025209	17	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104139301	104139301	6537	10	G	T	T	T	598	46	GBF1	2	2
SH3PXD2A	9644	broad.mit.edu	37	10	105362061	105362061	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105362061C>A	uc001kxj.1	-	c.2830G>T	c.(2830-2832)GTG>TTG	p.V944L	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.V779L|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.V821L|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.V779L|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.V887L	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	972					cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)										0.135135	8.562547	13.325287	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105362061	105362061	14748	10	C	A	A	A	260	20	SH3PXD2A	2	2
ITPRIP	85450	broad.mit.edu	37	10	106074321	106074321	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106074321C>T	uc001kye.2	-	c.1489G>A	c.(1489-1491)GCC>ACC	p.A497T	ITPRIP_uc001kyf.2_Missense_Mutation_p.A497T|ITPRIP_uc001kyg.2_Missense_Mutation_p.A497T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	497						plasma membrane					0														0.071429	-2.640786	10.571296	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106074321	106074321	8227	10	C	T	T	T	338	26	ITPRIP	2	2
ITPRIP	85450	broad.mit.edu	37	10	106074328	106074328	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106074328C>A	uc001kye.2	-	c.1482G>T	c.(1480-1482)GTG>GTT	p.V494V	ITPRIP_uc001kyf.2_Silent_p.V494V|ITPRIP_uc001kyg.2_Silent_p.V494V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	494						plasma membrane					0														0.203125	30.454247	35.680239	13	51	KEEP	---	---	---	---	capture		Silent	SNP	106074328	106074328	8227	10	C	A	A	A	314	25	ITPRIP	2	2
SORCS3	22986	broad.mit.edu	37	10	106959779	106959780	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106959779_106959780CG>TT	uc001kyi.1	+	c.2032_2033CG>TT	c.(2032-2034)CGC>TTC	p.R678F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	678	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|central_nervous_system(1)	7		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.121212	12.464362	21.734202	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	106959779	106959780	15432	10	CG	TT	TT	TT	299	23	SORCS3	1	1
SORCS1	114815	broad.mit.edu	37	10	108366972	108366972	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108366972A>G	uc001kyl.2	-	c.3117T>C	c.(3115-3117)TAT>TAC	p.Y1039Y	SORCS1_uc001kym.2_Silent_p.Y1039Y|SORCS1_uc009xxs.2_Silent_p.Y1039Y|SORCS1_uc001kyn.1_Silent_p.Y1039Y|SORCS1_uc001kyo.2_Silent_p.Y1039Y	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	1039	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.122807	10.407031	18.324589	7	50	KEEP	---	---	---	---	capture		Silent	SNP	108366972	108366972	15430	10	A	G	G	G	154	12	SORCS1	4	4
SORCS1	114815	broad.mit.edu	37	10	108923870	108923870	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108923870C>A	uc001kyl.2	-	c.415G>T	c.(415-417)GAG>TAG	p.E139*	SORCS1_uc001kym.2_Nonsense_Mutation_p.E139*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.E139*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.E139*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.E139*	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	139	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.155556	10.796068	15.89639	7	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108923870	108923870	15430	10	C	A	A	A	390	30	SORCS1	5	2
DCLRE1A	9937	broad.mit.edu	37	10	115602144	115602144	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115602144C>A	uc001law.2	-	c.2623G>T	c.(2623-2625)GTC>TTC	p.V875F		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	875					cell division|mitosis	nucleus	hydrolase activity			skin(1)	1				Epithelial(162;0.0157)|all cancers(201;0.0171)										0.130435	19.335149	31.558012	12	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115602144	115602144	4465	10	C	A	A	A	221	17	DCLRE1A	2	2
PNLIPRP3	119548	broad.mit.edu	37	10	118220556	118220556	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118220556A>T	uc001lcl.3	+	c.644A>T	c.(643-645)GAC>GTC	p.D215V		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	215					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)										0.08	-0.59803	12.88929	6	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118220556	118220556	12578	10	A	T	T	T	130	10	PNLIPRP3	3	3
PRLHR	2834	broad.mit.edu	37	10	120353854	120353854	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120353854C>A	uc001ldp.1	-	c.903G>T	c.(901-903)CGG>CGT	p.R301R		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	301	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)										0.142857	5.027168	9.387682	5	30	KEEP	---	---	---	---	capture		Silent	SNP	120353854	120353854	12973	10	C	A	A	A	275	22	PRLHR	2	2
NANOS1	340719	broad.mit.edu	37	10	120790054	120790054	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120790054C>A	uc009xzf.1	+	c.741C>A	c.(739-741)TAC>TAA	p.Y247*		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	nanos homolog 1	247	Nanos-type.				epithelial cell migration|regulation of translation	perinuclear region of cytoplasm	protein binding|RNA binding|zinc ion binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)										0.266667	19.085364	20.56191	8	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	120790054	120790054	10547	10	C	A	A	A	220	17	NANOS1	5	2
FGFR2	2263	broad.mit.edu	37	10	123274659	123274659	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123274659T>A	uc010qtj.1	-	c.1262A>T	c.(1261-1263)AAA>ATA	p.K421I	FGFR2_uc010qtg.1_Missense_Mutation_p.K308I|FGFR2_uc010qth.1_Missense_Mutation_p.K305I|FGFR2_uc010qti.1_Missense_Mutation_p.K331I|FGFR2_uc010qtk.1_Missense_Mutation_p.K420I|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.K305I|FGFR2_uc001lfl.3_Missense_Mutation_p.K421I|FGFR2_uc001lfm.2_Missense_Mutation_p.K332I|FGFR2_uc001lfn.3_Non-coding_Transcript|FGFR2_uc001lfg.3_Missense_Mutation_p.K30I	NM_022970	NP_075259	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 2	420	Cytoplasmic (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of gene-specific transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|protein phosphorylation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(39)|skin(28)|lung(7)|ovary(4)|cervix(2)|stomach(2)|breast(2)|soft_tissue(1)|central_nervous_system(1)	86		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)			5		350				0.157303	23.502644	33.46697	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123274659	123274659	6103	10	T	A	A	A	832	64	FGFR2	3	3
TACC2	10579	broad.mit.edu	37	10	123843657	123843657	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123843657G>T	uc001lfv.2	+	c.1642G>T	c.(1642-1644)GGG>TGG	p.G548W	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.G548W|TACC2_uc010qtv.1_Missense_Mutation_p.G548W	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	548	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.254545	34.027373	37.032849	14	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123843657	123843657	16023	10	G	T	T	T	559	43	TACC2	2	2
PSTK	118672	broad.mit.edu	37	10	124740113	124740113	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124740113C>G	uc001lgy.1	+	c.118C>G	c.(118-120)CAC>GAC	p.H40D		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	40							ATP binding|kinase activity			liver(1)	1		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)								OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3125	14.17351	14.671901	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124740113	124740113	13174	10	C	G	G	G	273	21	PSTK	3	3
JAKMIP3	282973	broad.mit.edu	37	10	133967450	133967450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:133967450G>T	uc001lkx.3	+	c.2170G>T	c.(2170-2172)GAG>TAG	p.E724*	JAKMIP3_uc009yba.1_Nonsense_Mutation_p.E161*	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)										0.162162	11.728922	15.74253	6	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	133967450	133967450	8246	10	G	T	T	T	481	37	JAKMIP3	5	1
VENTX	27287	broad.mit.edu	37	10	135051581	135051581	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135051581C>A	uc010quy.1	+	c.163C>A	c.(163-165)CGG>AGG	p.R55R		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	55					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)										0.625	15.976791	16.086634	5	3	KEEP	---	---	---	---	capture		Silent	SNP	135051581	135051581	17720	10	C	A	A	A	295	23	VENTX	1	1
CYP2E1	1571	broad.mit.edu	37	10	135346316	135346316	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135346316C>G	uc001lnj.1	+	c.769C>G	c.(769-771)CTG>GTG	p.L257V	CYP2E1_uc001lnk.1_Missense_Mutation_p.L120V|CYP2E1_uc009ybl.1_Missense_Mutation_p.L58V|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Missense_Mutation_p.L58V	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	257					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)									0.15942	23.382075	31.004271	11	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135346316	135346316	4335	10	C	G	G	G	415	32	CYP2E1	3	3
SYCE1	93426	broad.mit.edu	37	10	135369516	135369516	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135369516C>T	uc001lno.2	-	c.564G>A	c.(562-564)CTG>CTA	p.L188L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.L60L|SYCE1_uc009ybn.2_Silent_p.L188L|SYCE1_uc001lnn.2_Silent_p.L152L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	188	Potential.				cell division|meiotic prophase I	central element				ovary(1)	1		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)										0.106195	8.849443	26.229478	12	101	KEEP	---	---	---	---	capture		Silent	SNP	135369516	135369516	15948	10	C	T	T	T	262	21	SYCE1	2	2
CUBN	8029	broad.mit.edu	37	10	16955835	16955835	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16955835G>A	uc001ioo.2	-	c.7508C>T	c.(7507-7509)CCG>CTG	p.P2503L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2503	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.302083	82.352205	85.702088	29	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16955835	16955835	4211	10	G	A	A	A	507	39	CUBN	1	1
MRC1	4360	broad.mit.edu	37	10	18138603	18138603	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18138603G>T	uc001ipm.2	+	c.1159G>T	c.(1159-1161)GCT>TCT	p.A387S		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	387	Extracellular (Potential).|C-type lectin 2.				receptor-mediated endocytosis	integral to plasma membrane	mannose binding|receptor activity				0						GBM(115;1153 1594 28187 28781 35884)								0.333333	54.569528	55.941115	19	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18138603	18138603	10148	10	G	T	T	T	598	46	MRC1	2	2
SLC39A12	221074	broad.mit.edu	37	10	18270328	18270328	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18270328C>A	uc001ipo.2	+	c.1012C>A	c.(1012-1014)CCA>ACA	p.P338T	SLC39A12_uc001ipn.2_Missense_Mutation_p.P338T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P338T|SLC39A12_uc010qck.1_Missense_Mutation_p.P204T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	338	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.306122	40.326708	41.958116	15	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18270328	18270328	15112	10	C	A	A	A	390	30	SLC39A12	2	2
SLC39A12	221074	broad.mit.edu	37	10	18280127	18280127	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18280127T>A	uc001ipo.2	+	c.1317T>A	c.(1315-1317)CAT>CAA	p.H439Q	SLC39A12_uc001ipn.2_Missense_Mutation_p.H439Q|SLC39A12_uc001ipp.2_Missense_Mutation_p.H439Q|SLC39A12_uc010qck.1_Missense_Mutation_p.H305Q	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	439	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.076923	0.044313	11.936887	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18280127	18280127	15112	10	T	A	A	A	660	51	SLC39A12	3	3
SPAG6	9576	broad.mit.edu	37	10	22678165	22678165	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22678165G>T	uc001iri.2	+	c.929G>T	c.(928-930)CGG>CTG	p.R310L	SPAG6_uc001irj.2_Missense_Mutation_p.R310L|SPAG6_uc010qct.1_Missense_Mutation_p.R280L|SPAG6_uc009xkh.2_Missense_Mutation_p.R288L	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	310					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.204545	23.107796	26.628757	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22678165	22678165	15485	10	G	T	T	T	507	39	SPAG6	1	1
ARHGAP21	57584	broad.mit.edu	37	10	24874021	24874021	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:24874021C>A	uc001isb.2	-	c.5197G>T	c.(5197-5199)GTG>TTG	p.V1733L	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1732	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8														0.158273	39.539517	55.062738	22	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24874021	24874021	882	10	C	A	A	A	260	20	ARHGAP21	2	2
MYO3A	53904	broad.mit.edu	37	10	26310512	26310512	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26310512G>T	uc001isn.2	+	c.666G>T	c.(664-666)GAG>GAT	p.E222D	MYO3A_uc009xko.1_Missense_Mutation_p.E222D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E222D|MYO3A_uc001ism.2_Missense_Mutation_p.E222D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	222	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.267606	47.320113	50.767333	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26310512	26310512	10471	10	G	T	T	T	438	34	MYO3A	2	2
MYO3A	53904	broad.mit.edu	37	10	26359099	26359099	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26359099G>T	uc001isn.2	+	c.1230G>T	c.(1228-1230)ATG>ATT	p.M410I	MYO3A_uc009xko.1_Missense_Mutation_p.M410I|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.M410I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	410	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.166667	16.26777	21.325813	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26359099	26359099	10471	10	G	T	T	T	611	47	MYO3A	2	2
MYO3A	53904	broad.mit.edu	37	10	26457730	26457730	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26457730A>T	uc001isn.2	+	c.3201A>T	c.(3199-3201)AGA>AGT	p.R1067S	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1067	IQ 1.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.109091	5.715437	14.036575	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26457730	26457730	10471	10	A	T	T	T	141	11	MYO3A	3	3
ANKRD26	22852	broad.mit.edu	37	10	27303640	27303640	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27303640C>A	uc009xku.1	-	c.4507G>T	c.(4507-4509)GCA>TCA	p.A1503S	ANKRD26_uc001itg.2_Missense_Mutation_p.A1189S|ANKRD26_uc001ith.2_Missense_Mutation_p.A1502S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1502										large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.307692	21.39855	22.251186	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27303640	27303640	659	10	C	A	A	A	338	26	ANKRD26	2	2
MTPAP	55149	broad.mit.edu	37	10	30611320	30611320	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30611320C>A	uc001ivb.3	-	c.1609G>T	c.(1609-1611)GAT>TAT	p.D537Y	MTPAP_uc001iva.3_Missense_Mutation_p.D407Y	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	407					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1														0.170732	12.286137	16.516562	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30611320	30611320	10349	10	C	A	A	A	312	24	MTPAP	2	2
ARHGAP12	94134	broad.mit.edu	37	10	32098205	32098205	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32098205C>A	uc001ivz.1	-	c.2081G>T	c.(2080-2082)AGT>ATT	p.S694I	ARHGAP12_uc001ivy.1_Missense_Mutation_p.S640I|ARHGAP12_uc009xls.2_Missense_Mutation_p.S645I|ARHGAP12_uc001iwb.1_Missense_Mutation_p.S687I|ARHGAP12_uc001iwc.1_Missense_Mutation_p.S662I|ARHGAP12_uc009xlq.1_Missense_Mutation_p.S615I|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	694	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)												0.09434	1.131198	9.901429	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32098205	32098205	876	10	C	A	A	A	260	20	ARHGAP12	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37431003	37431003	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37431003G>T	uc001iza.1	+	c.1010G>T	c.(1009-1011)AGG>ATG	p.R337M		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	393					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.112903	8.479832	17.649809	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37431003	37431003	663	10	G	T	T	T	455	35	ANKRD30A	2	2
CSGALNACT2	55454	broad.mit.edu	37	10	43651081	43651081	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43651081G>T	uc001jan.2	+	c.484G>T	c.(484-486)GGT>TGT	p.G162C	CSGALNACT2_uc001jam.1_Missense_Mutation_p.G162C	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	162	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1														0.12069	8.407006	16.569415	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43651081	43651081	4080	10	G	T	T	T	559	43	CSGALNACT2	2	2
HNRNPF	3185	broad.mit.edu	37	10	43882617	43882617	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43882617C>A	uc009xmh.1	-	c.716G>T	c.(715-717)GGC>GTC	p.G239V	HNRNPF_uc001jar.2_Missense_Mutation_p.G239V|HNRNPF_uc001jas.2_Missense_Mutation_p.G239V|HNRNPF_uc001jat.2_Missense_Mutation_p.G239V|HNRNPF_uc001jav.2_Missense_Mutation_p.G239V|HNRNPF_uc001jau.2_Missense_Mutation_p.G239V	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	239					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0														0.214286	20.655695	23.819129	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43882617	43882617	7557	10	C	A	A	A	338	26	HNRNPF	2	2
SYT15	83849	broad.mit.edu	37	10	46962009	46962009	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:46962009C>T	uc001jea.2	-	c.1227G>A	c.(1225-1227)GTG>GTA	p.V409V	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Silent_p.V287V|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	409	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						Ovarian(57;1152 1428 19651 37745)								0.123288	8.451135	18.569846	9	64	KEEP	---	---	---	---	capture		Silent	SNP	46962009	46962009	15992	10	C	T	T	T	366	29	SYT15	2	2
MAPK8	5599	broad.mit.edu	37	10	49628332	49628332	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:49628332G>A	uc009xnz.2	+	c.585G>A	c.(583-585)GAG>GAA	p.E195E	MAPK8_uc001jgl.2_Silent_p.E195E|MAPK8_uc001jgm.2_Silent_p.E195E|MAPK8_uc001jgo.2_Silent_p.E195E|MAPK8_uc009xoa.2_Silent_p.E195E|MAPK8_uc001jgn.2_Silent_p.E195E|MAPK8_uc010qgk.1_Silent_p.E195E|MAPK8_uc001jgp.2_Silent_p.E195E|MAPK8_uc001jgq.2_Silent_p.E195E	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	195	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(3)|ovary(1)|lung(1)|kidney(1)	6		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)						140				0.129032	15.69788	28.294971	12	81	KEEP	---	---	---	---	capture		Silent	SNP	49628332	49628332	9666	10	G	A	A	A	451	35	MAPK8	2	2
PCDH15	65217	broad.mit.edu	37	10	55570360	55570360	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55570360C>A	uc010qhs.1	-	c.4474G>T	c.(4474-4476)GGT>TGT	p.G1492C	PCDH15_uc010qhq.1_Missense_Mutation_p.G1485C|PCDH15_uc010qhr.1_Missense_Mutation_p.G1480C|PCDH15_uc010qht.1_Missense_Mutation_p.G1485C|PCDH15_uc010qhu.1_Missense_Mutation_p.M1503I	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.202247	41.095046	48.431239	18	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55570360	55570360	11931	10	C	A	A	A	273	21	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	56138669	56138669	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:56138669C>A	uc010qhy.1	-	c.206G>T	c.(205-207)GGG>GTG	p.G69V	PCDH15_uc010qhq.1_Missense_Mutation_p.G69V|PCDH15_uc010qhr.1_Missense_Mutation_p.G64V|PCDH15_uc010qhs.1_Missense_Mutation_p.G69V|PCDH15_uc010qht.1_Missense_Mutation_p.G64V|PCDH15_uc010qhu.1_Missense_Mutation_p.G64V|PCDH15_uc001jjv.1_Missense_Mutation_p.G42V|PCDH15_uc010qhv.1_Missense_Mutation_p.G64V|PCDH15_uc010qhw.1_Missense_Mutation_p.G64V|PCDH15_uc010qhx.1_Missense_Mutation_p.G64V|PCDH15_uc010qhz.1_Missense_Mutation_p.G64V|PCDH15_uc010qia.1_Missense_Mutation_p.G42V|PCDH15_uc001jju.1_Missense_Mutation_p.G64V|PCDH15_uc010qib.1_Missense_Mutation_p.G42V|PCDH15_uc001jjw.2_Missense_Mutation_p.G64V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	64	Cadherin 1.|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				0.266667	105.639013	113.752281	44	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138669	56138669	11931	10	C	A	A	A	286	22	PCDH15	2	2
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5995118C>T	uc001iiv.2	-	c.744G>A	c.(742-744)CCG>CCA	p.P248P	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	248	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0														0.166667	6.771659	10.672841	6	30	KEEP	---	---	---	---	capture		Silent	SNP	5995118	5995118	7933	10	C	T	T	T	288	23	IL15RA	1	1
BICC1	80114	broad.mit.edu	37	10	60558294	60558294	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:60558294C>T	uc001jki.1	+	c.1502C>T	c.(1501-1503)CCA>CTA	p.P501L	BICC1_uc001jkj.1_Missense_Mutation_p.P142L	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	501					multicellular organismal development		RNA binding			ovary(2)|lung(1)	3														0.111111	9.117524	21.228258	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60558294	60558294	1452	10	C	T	T	T	273	21	BICC1	2	2
ANK3	288	broad.mit.edu	37	10	61835269	61835269	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61835269C>A	uc001jky.2	-	c.5370G>T	c.(5368-5370)CAG>CAT	p.Q1790H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1790	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.209302	21.352805	24.715142	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61835269	61835269	625	10	C	A	A	A	259	20	ANK3	2	2
ITIH5	80760	broad.mit.edu	37	10	7621752	7621752	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7621752G>T	uc001ijq.2	-	c.1384C>A	c.(1384-1386)CAC>AAC	p.H462N	ITIH5_uc001ijp.2_Missense_Mutation_p.H248N|ITIH5_uc001ijr.1_Missense_Mutation_p.H462N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	462	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.075472	-0.738545	9.054267	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7621752	7621752	8211	10	G	T	T	T	598	46	ITIH5	2	2
ITIH5	80760	broad.mit.edu	37	10	7659155	7659155	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7659155C>A	uc001ijq.2	-	c.743G>T	c.(742-744)AGG>ATG	p.R248M	ITIH5_uc001ijp.2_Missense_Mutation_p.R34M|ITIH5_uc001ijr.1_Missense_Mutation_p.R248M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.177778	29.110604	37.968915	16	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7659155	7659155	8211	10	C	A	A	A	312	24	ITIH5	2	2
DLG5	9231	broad.mit.edu	37	10	79593690	79593690	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79593690C>G	uc001jzk.2	-	c.1730G>C	c.(1729-1731)CGC>CCC	p.R577P	DLG5_uc001jzj.2_Missense_Mutation_p.R332P|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.3_Missense_Mutation_p.R181P	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	577					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)											0.173077	17.151551	22.396598	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79593690	79593690	4738	10	C	G	G	G	351	27	DLG5	3	3
POLR3A	11128	broad.mit.edu	37	10	79743987	79743987	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:79743987T>A	uc001jzn.2	-	c.3312A>T	c.(3310-3312)AGA>AGT	p.R1104S		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1104					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)											0.1125	7.316864	19.182648	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79743987	79743987	12656	10	T	A	A	A	803	62	POLR3A	3	3
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8100386G>T	uc001ijz.2	+	c.360G>T	c.(358-360)ACG>ACT	p.T120T	GATA3_uc001ika.2_Silent_p.T120T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	120					blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.116279	13.309323	25.753468	10	76	KEEP	---	---	---	---	capture		Silent	SNP	8100386	8100386	6519	10	G	T	T	T	509	40	GATA3	1	1
GATA3	2625	broad.mit.edu	37	10	8115980	8115980	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8115980G>T	uc001ijz.2	+	c.1329G>T	c.(1327-1329)ATG>ATT	p.M443I	GATA3_uc001ika.2_Missense_Mutation_p.M442I	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	442					blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.277778	27.036642	28.634866	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8115980	8115980	6519	10	G	T	T	T	611	47	GATA3	2	2
IFIT1B	439996	broad.mit.edu	37	10	91143375	91143375	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91143375C>G	uc001kgh.2	+	c.305C>G	c.(304-306)GCC>GGC	p.A102G	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	102	TPR 2.						binding				0														0.140845	19.713404	28.540998	10	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91143375	91143375	7823	10	C	G	G	G	338	26	IFIT1B	3	3
KIF20B	9585	broad.mit.edu	37	10	91476254	91476254	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91476254A>G	uc001kgs.1	+	c.1002A>G	c.(1000-1002)ATA>ATG	p.I334M	KIF20B_uc001kgr.1_Missense_Mutation_p.I334M	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	334	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.190476	9.787931	11.668392	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91476254	91476254	8598	10	A	G	G	G	163	13	KIF20B	4	4
KIF11	3832	broad.mit.edu	37	10	94389969	94389969	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94389969G>A	uc001kic.2	+	c.1342G>A	c.(1342-1344)GAC>AAC	p.D448N	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	448	Potential.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding				0						Colon(47;212 1003 2764 4062 8431)								0.173913	7.685447	9.994349	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94389969	94389969	8583	10	G	A	A	A	585	45	KIF11	2	2
CYP2C19	1557	broad.mit.edu	37	10	96602702	96602702	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96602702G>T	uc010qnz.1	+	c.1070G>T	c.(1069-1071)AGA>ATA	p.R357I	CYP2C19_uc010qny.1_Missense_Mutation_p.R335I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	357					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)	5		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)									0.095238	2.620279	12.96636	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96602702	96602702	4331	10	G	T	T	T	429	33	CYP2C19	2	2
CYP2C9	1559	broad.mit.edu	37	10	96748758	96748758	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96748758C>T	uc001kka.3	+	c.1446C>T	c.(1444-1446)TTC>TTT	p.F482F	CYP2C9_uc009xut.2_Silent_p.F480F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C,	482					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			ovary(2)	2		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	Ovarian(54;1266 1406 16072 35076)								0.135802	15.669726	26.12867	11	70	KEEP	---	---	---	---	capture		Silent	SNP	96748758	96748758	4333	10	C	T	T	T	415	32	CYP2C9	2	2
SORBS1	10580	broad.mit.edu	37	10	97174272	97174272	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97174272G>A	uc001kkp.2	-	c.789C>T	c.(787-789)CTC>CTT	p.L263L	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Silent_p.L263L|SORBS1_uc001kkq.2_Silent_p.L194L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Non-coding_Transcript|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Silent_p.L231L|SORBS1_uc001kkw.2_Silent_p.L263L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Silent_p.L461L|SORBS1_uc001kkx.1_Silent_p.L231L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	263					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)										0.181818	11.228525	14.369523	6	27	KEEP	---	---	---	---	capture		Silent	SNP	97174272	97174272	15427	10	G	A	A	A	574	45	SORBS1	2	2
PGR	5241	broad.mit.edu	37	11	100912825	100912825	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100912825C>A	uc001pgh.2	-	c.2497G>T	c.(2497-2499)GAA>TAA	p.E833*	PGR_uc001pgg.2_Nonsense_Mutation_p.E214*|PGR_uc001pgi.2_Nonsense_Mutation_p.E731*|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	833	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	Pancreas(124;2271 2354 21954 22882)				429				0.3125	39.909069	41.41058	15	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100912825	100912825	12228	11	C	A	A	A	390	30	PGR	5	2
ANGPTL5	253935	broad.mit.edu	37	11	101762183	101762183	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101762183C>G	uc001pgl.2	-	c.994G>C	c.(994-996)GGC>CGC	p.G332R		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	332	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)										0.21978	47.973508	54.548075	20	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101762183	101762183	620	11	C	G	G	G	299	23	ANGPTL5	3	3
ANGPTL5	253935	broad.mit.edu	37	11	101762327	101762327	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101762327C>A	uc001pgl.2	-	c.850G>T	c.(850-852)GAT>TAT	p.D284Y		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	284	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)										0.2	11.96964	14.055438	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101762327	101762327	620	11	C	A	A	A	377	29	ANGPTL5	2	2
BIRC3	330	broad.mit.edu	37	11	102201846	102201846	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102201846C>T	uc001pgx.2	+	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	400					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)						113				0.175439	19.114649	24.778124	10	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102201846	102201846	1461	11	C	T	T	T	377	29	BIRC3	5	2
MMP27	64066	broad.mit.edu	37	11	102573517	102573517	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102573517C>G	uc001phd.1	-	c.586G>C	c.(586-588)GAT>CAT	p.D196H		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	matrix metalloproteinase 27 precursor	196		Calcium 3 (By similarity).			collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)										0.210526	50.936025	58.326425	20	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102573517	102573517	10055	11	C	G	G	G	377	29	MMP27	3	3
DDI1	414301	broad.mit.edu	37	11	103908012	103908012	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103908012C>A	uc001phr.2	+	c.462C>A	c.(460-462)CCC>CCA	p.P154P	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	154					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)										0.190476	15.705507	19.445469	8	34	KEEP	---	---	---	---	capture		Silent	SNP	103908012	103908012	4499	11	C	A	A	A	275	22	DDI1	2	2
AASDHPPT	60496	broad.mit.edu	37	11	105967474	105967474	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105967474C>T	uc001pjc.1	+	c.770C>T	c.(769-771)CCA>CTA	p.P257L	AASDHPPT_uc010rvn.1_Non-coding_Transcript|AASDHPPT_uc001pjd.1_Missense_Mutation_p.P110L	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	257					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)										0.145161	14.639275	22.146059	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105967474	105967474	24	11	C	T	T	T	273	21	AASDHPPT	2	2
GUCY1A2	2977	broad.mit.edu	37	11	106558347	106558347	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:106558347A>G	uc009yxn.1	-	c.2220T>C	c.(2218-2220)TCT>TCC	p.S740S	GUCY1A2_uc001pjg.1_Silent_p.S709S|GUCY1A2_uc010rvo.1_Silent_p.S730S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	709					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|pancreas(2)|ovary(1)	6		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)						248				0.153846	34.166884	46.05288	16	88	KEEP	---	---	---	---	capture		Silent	SNP	106558347	106558347	7173	11	A	G	G	G	132	11	GUCY1A2	4	4
GUCY1A2	2977	broad.mit.edu	37	11	106579268	106579268	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:106579268C>T	uc009yxn.1	-	c.2054G>A	c.(2053-2055)CGG>CAG	p.R685Q	GUCY1A2_uc001pjg.1_Missense_Mutation_p.R654Q|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R675Q	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	654					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|pancreas(2)|ovary(1)	6		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)						248				0.133333	6.480954	10.393883	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106579268	106579268	7173	11	C	T	T	T	299	23	GUCY1A2	1	1
ELMOD1	55531	broad.mit.edu	37	11	107535886	107535886	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107535886C>A	uc010rvs.1	+	c.968C>A	c.(967-969)CCA>CAA	p.P323Q	ELMOD1_uc001pjm.2_Missense_Mutation_p.P315Q|ELMOD1_uc010rvt.1_Missense_Mutation_p.P317Q	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	323					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)										0.120879	11.498331	24.304306	11	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107535886	107535886	5260	11	C	A	A	A	273	21	ELMOD1	2	2
MUC2	4583	broad.mit.edu	37	11	1095202	1095202	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1095202G>T	uc001lsx.1	+	c.13108G>T	c.(13108-13110)GAG>TAG	p.E4370*		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4370						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.363636	10.296743	10.476726	4	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1095202	1095202	10369	11	G	T	T	T	533	41	MUC2	5	2
BCO2	83875	broad.mit.edu	37	11	112065384	112065384	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:112065384G>T	uc001pnf.2	+	c.642G>T	c.(640-642)TGG>TGT	p.W214C	BCO2_uc001pne.1_Missense_Mutation_p.W41C|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.W180C|BCO2_uc010rwt.1_Missense_Mutation_p.W109C|BCO2_uc009yyn.2_Missense_Mutation_p.W180C|BCO2_uc001pni.2_Missense_Mutation_p.W180C	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	214					carotene metabolic process|oxidation-reduction process|retinal metabolic process|retinoic acid metabolic process	intracellular	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GBM(177;1916 2099 21049 29541 39946)								0.181818	23.15777	29.439325	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112065384	112065384	1406	11	G	T	T	T	533	41	BCO2	2	2
DRD2	1813	broad.mit.edu	37	11	113283382	113283382	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113283382G>T	uc001pnz.2	-	c.1034C>A	c.(1033-1035)ACC>AAC	p.T345N	DRD2_uc010rwv.1_Missense_Mutation_p.T344N|DRD2_uc001poa.3_Missense_Mutation_p.T345N|DRD2_uc001pob.3_Missense_Mutation_p.T316N	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	345	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.155172	17.141494	23.726311	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113283382	113283382	4941	11	G	T	T	T	572	44	DRD2	2	2
CEP164	22897	broad.mit.edu	37	11	117257992	117257992	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117257992G>T	uc001prc.2	+	c.1798G>T	c.(1798-1800)GCC>TCC	p.A600S	CEP164_uc001prb.2_Missense_Mutation_p.A603S|CEP164_uc010rxk.1_Missense_Mutation_p.A574S|CEP164_uc001prf.2_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.A33S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	600	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)										0.112676	7.856674	18.367209	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117257992	117257992	3382	11	G	T	T	T	546	42	CEP164	2	2
CD3D	915	broad.mit.edu	37	11	118210166	118210166	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118210166C>G	uc001pss.1	-	c.450G>C	c.(448-450)CAG>CAC	p.Q150H	CD3D_uc001pst.1_Missense_Mutation_p.Q106H	NM_000732	NP_000723	P04234	CD3D_HUMAN	CD3 antigen, delta subunit isoform A precursor	150	ITAM.|Cytoplasmic (Potential).				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)										0.148148	12.763089	19.185615	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118210166	118210166	3138	11	C	G	G	G	311	24	CD3D	3	3
MLL	4297	broad.mit.edu	37	11	118363824	118363824	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118363824G>C	uc001ptb.2	+	c.5057G>C	c.(5056-5058)CGC>CCC	p.R1686P	MLL_uc001pta.2_Missense_Mutation_p.R1683P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1683					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|unmethylated CpG binding|zinc ion binding			ovary(5)|kidney(5)|lung(3)|pancreas(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)	18	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)						723				0.237288	36.624408	40.342619	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118363824	118363824	10010	11	G	C	C	C	494	38	MLL	3	3
BCL9L	283149	broad.mit.edu	37	11	118771514	118771514	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118771514C>A	uc001pug.2	-	c.2938G>T	c.(2938-2940)GGC>TGC	p.G980C	BCL9L_uc009zal.2_Missense_Mutation_p.G975C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	980	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)										0.159091	14.408908	19.270775	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118771514	118771514	1403	11	C	A	A	A	299	23	BCL9L	1	1
ABCG4	64137	broad.mit.edu	37	11	119024758	119024758	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119024758C>T	uc001pvs.2	+	c.261C>T	c.(259-261)TGC>TGT	p.C87C	ABCG4_uc009zar.2_Silent_p.C87C|ABCG4_uc001pvt.1_Non-coding_Transcript	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	87	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.139241	12.643554	22.658103	11	68	KEEP	---	---	---	---	capture		Silent	SNP	119024758	119024758	71	11	C	T	T	T	337	26	ABCG4	2	2
NLRX1	79671	broad.mit.edu	37	11	119045184	119045184	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119045184G>T	uc001pvu.2	+	c.872G>T	c.(871-873)CGG>CTG	p.R291L	NLRX1_uc010rzc.1_Missense_Mutation_p.R113L|NLRX1_uc001pvv.2_Missense_Mutation_p.R291L|NLRX1_uc001pvw.2_Missense_Mutation_p.R291L|NLRX1_uc001pvx.2_Missense_Mutation_p.R291L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	291	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)										0.215827	72.872917	83.248723	30	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119045184	119045184	10888	11	G	T	T	T	507	39	NLRX1	1	1
GRIK4	2900	broad.mit.edu	37	11	120732757	120732757	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120732757C>T	uc001pxn.2	+	c.834C>T	c.(832-834)TTC>TTT	p.F278F	GRIK4_uc009zav.1_Silent_p.F278F|GRIK4_uc009zaw.1_Silent_p.F278F|GRIK4_uc009zax.1_Silent_p.F278F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	278	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)									0.112195	23.440548	53.844351	23	182	KEEP	---	---	---	---	capture		Silent	SNP	120732757	120732757	7055	11	C	T	T	T	389	30	GRIK4	2	2
TMEM225	338661	broad.mit.edu	37	11	123754007	123754007	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123754007C>T	uc001pzi.2	-	c.516G>A	c.(514-516)CTG>CTA	p.L172L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	172						integral to membrane				pancreas(1)	1														0.173913	14.595423	19.19658	8	38	KEEP	---	---	---	---	capture		Silent	SNP	123754007	123754007	16683	11	C	T	T	T	366	29	TMEM225	2	2
OR6T1	219874	broad.mit.edu	37	11	123814154	123814154	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123814154C>A	uc010sab.1	-	c.392G>T	c.(391-393)CGC>CTC	p.R131L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)										0.277778	14.968562	15.767459	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123814154	123814154	11621	11	C	A	A	A	351	27	OR6T1	1	1
ROBO3	64221	broad.mit.edu	37	11	124748584	124748584	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124748584C>T	uc001qbc.2	+	c.3425C>T	c.(3424-3426)CCC>CTC	p.P1142L	ROBO3_uc001qbd.2_Missense_Mutation_p.P67L|ROBO3_uc010sar.1_Missense_Mutation_p.P191L|ROBO3_uc001qbe.2_Missense_Mutation_p.P67L|ROBO3_uc001qbf.1_Missense_Mutation_p.P26L	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1142	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.368421	21.119476	21.408842	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124748584	124748584	13994	11	C	T	T	T	286	22	ROBO3	2	2
MUC5B	727897	broad.mit.edu	37	11	1274101	1274101	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1274101C>A	uc009ycr.1	+	c.16074C>A	c.(16072-16074)GTC>GTA	p.V5358V	MUC5B_uc001ltb.2_Silent_p.V5039V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5036					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)										0.333333	12.398159	12.692287	4	8	KEEP	---	---	---	---	capture		Silent	SNP	1274101	1274101	10373	11	C	A	A	A	392	31	MUC5B	1	1
ADAMTS15	170689	broad.mit.edu	37	11	130343102	130343102	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130343102G>T	uc010scd.1	+	c.2239G>T	c.(2239-2241)GAG>TAG	p.E747*		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	747	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|lung(1)|pancreas(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)										0.153846	9.462399	15.439183	8	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130343102	130343102	261	11	G	T	T	T	533	41	ADAMTS15	5	2
NTM	50863	broad.mit.edu	37	11	132177605	132177605	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132177605C>A	uc010sci.1	+	c.549C>A	c.(547-549)GAC>GAA	p.D183E	NTM_uc001qgm.2_Missense_Mutation_p.D183E|NTM_uc010sch.1_Missense_Mutation_p.D174E|NTM_uc010scj.1_Missense_Mutation_p.D142E|NTM_uc001qgo.2_Missense_Mutation_p.D183E|NTM_uc001qgq.2_Missense_Mutation_p.D183E|NTM_uc001qgp.2_Missense_Mutation_p.D183E|NTM_uc001qgr.2_5'UTR	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	183	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.135135	8.654524	13.423849	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132177605	132177605	11104	11	C	A	A	A	246	19	NTM	1	1
NTM	50863	broad.mit.edu	37	11	132204969	132204969	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132204969G>T	uc010sci.1	+	c.997G>T	c.(997-999)GGC>TGC	p.G333C	NTM_uc001qgm.2_Missense_Mutation_p.G322C|NTM_uc010sch.1_Missense_Mutation_p.G324C|NTM_uc010scj.1_Missense_Mutation_p.G281C|NTM_uc001qgq.2_Missense_Mutation_p.G333C|NTM_uc001qgp.2_Missense_Mutation_p.G322C|NTM_uc001qgr.2_Missense_Mutation_p.G104C	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	322					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5														0.067416	-5.378123	11.834753	6	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132204969	132204969	11104	11	G	T	T	T	507	39	NTM	1	1
BTBD10	84280	broad.mit.edu	37	11	13427269	13427269	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:13427269C>T	uc010rcl.1	-	c.967G>A	c.(967-969)GAT>AAT	p.D323N	BTBD10_uc001mkz.2_Missense_Mutation_p.D315N|BTBD10_uc001mla.2_Missense_Mutation_p.D299N|BTBD10_uc009ygn.2_Non-coding_Transcript|BTBD10_uc010rcm.1_Missense_Mutation_p.D267N|BTBD10_uc010rcn.1_Missense_Mutation_p.D284N|BTBD10_uc009ygo.2_Missense_Mutation_p.D267N	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	315						nucleus					0				Epithelial(150;0.0214)										0.205882	52.319564	60.499745	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13427269	13427269	1570	11	C	T	T	T	416	32	BTBD10	2	2
INSC	387755	broad.mit.edu	37	11	15260577	15260577	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15260577C>T	uc001mly.2	+	c.1491C>T	c.(1489-1491)CTC>CTT	p.L497L	INSC_uc001mlz.2_Silent_p.L450L|INSC_uc001mma.2_Silent_p.L450L|INSC_uc010rcs.1_Silent_p.L485L|INSC_uc001mmb.2_Silent_p.L450L|INSC_uc001mmc.2_Silent_p.L408L	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	497					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.269231	16.212974	17.463052	7	19	KEEP	---	---	---	---	capture		Silent	SNP	15260577	15260577	8065	11	C	T	T	T	366	29	INSC	2	2
ZDHHC13	54503	broad.mit.edu	37	11	19184859	19184859	+	Missense_Mutation	SNP	G	T	T	rs115205445	by1000genomes	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19184859G>T	uc001mpi.2	+	c.1118G>T	c.(1117-1119)GGA>GTA	p.G373V	ZDHHC13_uc001mpj.2_Missense_Mutation_p.G243V	NM_019028	NP_061901	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC domain containing 13 isoform	373	Phe-rich.|Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding				0														0.115385	3.316546	7.095991	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184859	19184859	18191	11	G	T	T	T	533	41	ZDHHC13	2	2
MUC15	143662	broad.mit.edu	37	11	26586719	26586719	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26586719G>T	uc001mqw.2	-	c.768C>A	c.(766-768)CCC>CCA	p.P256P	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqx.2_Silent_p.P229P|MUC15_uc001mqy.2_Silent_p.P256P	NM_001135091	NP_001128563	Q8N387	MUC15_HUMAN	mucin 15 isoform a	229	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.176471	17.344787	22.375637	9	42	KEEP	---	---	---	---	capture		Silent	SNP	26586719	26586719	10366	11	G	T	T	T	548	43	MUC15	2	2
PAX6	5080	broad.mit.edu	37	11	31816191	31816191	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31816191C>A	uc001mtg.3	-	c.711G>T	c.(709-711)GAG>GAT	p.E237D	PAX6_uc001mtd.3_Missense_Mutation_p.E223D|PAX6_uc001mte.3_Missense_Mutation_p.E223D|PAX6_uc001mtf.3_Missense_Mutation_p.E223D|PAX6_uc001mth.3_Missense_Mutation_p.E223D|PAX6_uc009yjr.2_Missense_Mutation_p.E223D	NM_001604	NP_001595	P26367	PAX6_HUMAN	paired box gene 6 isoform b	223	Homeobox.				central nervous system development|eye development|gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|neuron fate commitment|organ morphogenesis|pancreatic A cell development|positive regulation of gene expression|regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription activator activity|ubiquitin-protein ligase activity			ovary(2)|pancreas(1)	3	Lung SC(675;0.225)													0.162162	11.627814	15.642154	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31816191	31816191	11903	11	C	A	A	A	311	24	PAX6	2	2
WT1	7490	broad.mit.edu	37	11	32413565	32413565	+	Missense_Mutation	SNP	C	A	A	rs121907903		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32413565C>A	uc001mtn.1	-	c.1385G>T	c.(1384-1386)CGG>CTG	p.R462L	WT1_uc001mtl.1_Missense_Mutation_p.R250L|WT1_uc001mtm.1_Missense_Mutation_p.R233L|WT1_uc001mto.1_Missense_Mutation_p.R462L|WT1_uc001mtp.1_Missense_Mutation_p.R445L|WT1_uc001mtq.1_Missense_Mutation_p.R445L|WT1_uc009yjs.1_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	394	C2H2-type 3.|Important for interaction with target DNA.		R -> L (in WT1).|R -> P (in DDS).|R -> Q (in DDS).|R -> W (in DDS, WT1 and MEACHS).	R->A,S: Strongly reduced binding of DNA and RNA.	adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding	p.R394P(5)|p.R394Q(4)|p.V380_S410del(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.23301	58.977172	65.685077	24	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32413565	32413565	17982	11	C	A	A	A	299	23	WT1	1	1
OR4C13	283092	broad.mit.edu	37	11	49974659	49974659	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974659G>C	uc010rhz.1	+	c.685G>C	c.(685-687)GAG>CAG	p.E229Q		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.217391	60.293627	68.804879	25	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49974659	49974659	11453	11	G	C	C	C	429	33	OR4C13	3	3
OR51L1	119682	broad.mit.edu	37	11	5021140	5021140	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5021140G>C	uc010qyu.1	+	c.928G>C	c.(928-930)GTC>CTC	p.V310L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.34	51.255527	52.388992	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5021140	5021140	11512	11	G	C	C	C	624	48	OR51L1	3	3
OR52J3	119679	broad.mit.edu	37	11	5067999	5067999	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5067999C>T	uc010qyv.1	+	c.244C>T	c.(244-246)CGC>TGC	p.R82C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.464286	38.229257	38.26357	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5067999	5067999	11532	11	C	T	T	T	403	31	OR52J3	1	1
OR51V1	283111	broad.mit.edu	37	11	5221366	5221366	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221366G>T	uc010qyz.1	-	c.565C>A	c.(565-567)CTG>ATG	p.L189M		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.26087	30.577905	32.959661	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221366	5221366	11517	11	G	T	T	T	451	35	OR51V1	2	2
OR4A16	81327	broad.mit.edu	37	11	55111467	55111467	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55111467C>A	uc010rie.1	+	c.791C>A	c.(790-792)CCC>CAC	p.P264H		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3														0.192982	19.991137	25.022269	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55111467	55111467	11447	11	C	A	A	A	286	22	OR4A16	2	2
OR4C16	219428	broad.mit.edu	37	11	55339944	55339944	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55339944T>A	uc010rih.1	+	c.341T>A	c.(340-342)ATC>AAC	p.I114N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.111111	9.928188	26.124825	12	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55339944	55339944	11455	11	T	A	A	A	650	50	OR4C16	3	3
OR4S2	219431	broad.mit.edu	37	11	55418981	55418981	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55418981G>T	uc001nhs.1	+	c.602G>T	c.(601-603)AGT>ATT	p.S201I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.413333	95.912839	96.40422	31	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55418981	55418981	11493	11	G	T	T	T	468	36	OR4S2	2	2
OR4C6	219432	broad.mit.edu	37	11	55433423	55433423	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55433423G>C	uc001nht.3	+	c.781G>C	c.(781-783)GTC>CTC	p.V261L	OR4C6_uc010rik.1_Missense_Mutation_p.V261L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.16092	25.59556	35.130106	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55433423	55433423	11459	11	G	C	C	C	572	44	OR4C6	3	3
OR5L1	219437	broad.mit.edu	37	11	55579049	55579049	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579049G>A	uc001nhw.1	+	c.107G>A	c.(106-108)GGA>GAA	p.G36E		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.177419	67.06328	85.294688	33	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579049	55579049	11580	11	G	A	A	A	533	41	OR5L1	2	2
OR5L2	26338	broad.mit.edu	37	11	55595543	55595543	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595543C>A	uc001nhy.1	+	c.849C>A	c.(847-849)CCC>CCA	p.P283P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.175	14.799292	18.785285	7	33	KEEP	---	---	---	---	capture		Silent	SNP	55595543	55595543	11581	11	C	A	A	A	262	21	OR5L2	2	2
OR5I1	10798	broad.mit.edu	37	11	55703324	55703324	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55703324G>C	uc010ris.1	-	c.553C>G	c.(553-555)CCC>GCC	p.P185A		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.166667	11.256591	14.416479	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55703324	55703324	11574	11	G	C	C	C	533	41	OR5I1	3	3
OR5F1	338674	broad.mit.edu	37	11	55761413	55761413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761413G>T	uc010riv.1	-	c.689C>A	c.(688-690)TCG>TAG	p.S230*		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.285714	21.291063	22.443316	8	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55761413	55761413	11568	11	G	T	T	T	481	37	OR5F1	5	1
OR8H3	390152	broad.mit.edu	37	11	55890265	55890265	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55890265G>C	uc001nii.1	+	c.417G>C	c.(415-417)AGG>AGC	p.R139S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.172414	47.695616	59.401881	20	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55890265	55890265	11650	11	G	C	C	C	542	42	OR8H3	3	3
OR5J2	282775	broad.mit.edu	37	11	55944482	55944482	+	Nonsense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944482T>A	uc010rjb.1	+	c.389T>A	c.(388-390)TTG>TAG	p.L130*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.173333	25.069322	32.643207	13	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55944482	55944482	11575	11	T	A	A	A	819	63	OR5J2	5	3
OR5T2	219464	broad.mit.edu	37	11	56000334	56000334	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56000334C>T	uc010rjc.1	-	c.328G>A	c.(328-330)GCC>ACC	p.A110T		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	110	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.146341	9.262655	14.159385	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56000334	56000334	11592	11	C	T	T	T	325	25	OR5T2	2	2
OR8K3	219473	broad.mit.edu	37	11	56086209	56086209	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56086209G>T	uc010rjf.1	+	c.427G>T	c.(427-429)GTG>TTG	p.V143L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.1875	30.517782	37.80406	15	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56086209	56086209	11655	11	G	T	T	T	572	44	OR8K3	2	2
OR5R1	219479	broad.mit.edu	37	11	56185388	56185388	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56185388G>A	uc010rji.1	-	c.321C>T	c.(319-321)TTC>TTT	p.F107F		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.193548	12.830794	15.54884	6	25	KEEP	---	---	---	---	capture		Silent	SNP	56185388	56185388	11590	11	G	A	A	A	581	45	OR5R1	2	2
OR9G4	283189	broad.mit.edu	37	11	56510984	56510984	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56510984A>T	uc010rjo.1	-	c.304T>A	c.(304-306)TCA>ACA	p.S102T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	102	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.222222	42.610207	49.049957	20	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56510984	56510984	11662	11	A	T	T	T	143	11	OR9G4	3	3
TNKS1BP1	85456	broad.mit.edu	37	11	57077513	57077513	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57077513C>A	uc001njr.2	-	c.2672G>T	c.(2671-2673)AGA>ATA	p.R891I	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R891I|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R342I	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	891	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)												0.122137	17.206766	35.531475	16	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57077513	57077513	16861	11	C	A	A	A	416	32	TNKS1BP1	2	2
SERPING1	710	broad.mit.edu	37	11	57367360	57367360	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57367360C>A	uc009ymi.1	+	c.60C>A	c.(58-60)GCC>GCA	p.A20A	SERPING1_uc001nkp.1_Silent_p.A20A|SERPING1_uc001nkq.1_Silent_p.A20A|SERPING1_uc010rju.1_5'UTR|SERPING1_uc010rjv.1_Silent_p.A25A|SERPING1_uc001nkr.1_Silent_p.A20A|SERPING1_uc009ymj.1_Silent_p.A20A|SERPING1_uc001nks.1_Intron	NM_001032295	NP_001027466	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	20					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1														0.166667	15.74342	21.434101	9	45	KEEP	---	---	---	---	capture		Silent	SNP	57367360	57367360	14604	11	C	A	A	A	301	24	SERPING1	2	2
OR6Q1	219952	broad.mit.edu	37	11	57799225	57799225	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57799225G>T	uc010rjz.1	+	c.801G>T	c.(799-801)AAG>AAT	p.K267N	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)												0.123711	14.742361	28.170351	12	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57799225	57799225	11619	11	G	T	T	T	451	35	OR6Q1	2	2
OR5A1	219982	broad.mit.edu	37	11	59210995	59210995	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59210995G>T	uc001nnx.1	+	c.354G>T	c.(352-354)CTG>CTT	p.L118L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2														0.20339	78.498121	92.958865	36	141	KEEP	---	---	---	---	capture		Silent	SNP	59210995	59210995	11549	11	G	T	T	T	574	45	OR5A1	2	2
OR4D11	219986	broad.mit.edu	37	11	59271184	59271184	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59271184A>T	uc001noa.1	+	c.136A>T	c.(136-138)ATG>TTG	p.M46L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.182796	36.314907	45.158018	17	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59271184	59271184	11462	11	A	T	T	T	104	8	OR4D11	3	3
OR52L1	338751	broad.mit.edu	37	11	6007960	6007960	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6007960G>T	uc001mcd.2	-	c.201C>A	c.(199-201)ATC>ATA	p.I67I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	67	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.166667	5.912735	7.809769	3	15	KEEP	---	---	---	---	capture		Silent	SNP	6007960	6007960	11535	11	G	T	T	T	421	33	OR52L1	2	2
OR52L1	338751	broad.mit.edu	37	11	6008099	6008099	+	Nonsense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6008099G>C	uc001mcd.2	-	c.62C>G	c.(61-63)TCA>TGA	p.S21*		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(121;653 1666 10547 22796 51255)								0.25	21.419495	23.004682	7	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6008099	6008099	11535	11	G	C	C	C	585	45	OR52L1	5	3
MS4A14	84689	broad.mit.edu	37	11	60164175	60164175	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60164175C>A	uc001npj.2	+	c.124C>A	c.(124-126)CCA>ACA	p.P42T	MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P42T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	42						integral to membrane	receptor activity			breast(1)	1														0.222222	9.839374	11.082541	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60164175	60164175	10251	11	C	A	A	A	338	26	MS4A14	2	2
CD6	923	broad.mit.edu	37	11	60739346	60739346	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60739346C>A	uc001nqq.2	+	c.9C>A	c.(7-9)CTC>CTA	p.L3L	CD6_uc009yni.2_Silent_p.L3L|CD6_uc009ynj.2_Silent_p.L3L|CD6_uc001nqp.2_Silent_p.L3L|CD6_uc001nqr.2_Silent_p.L3L|CD6_uc001nqs.2_Non-coding_Transcript|CD6_uc001nqt.2_Silent_p.L3L	NM_006725	NP_006716	P30203	CD6_HUMAN	CD6 molecule precursor	3					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			pancreas(1)	1						Pancreas(169;904 2017 4767 38890 42505)								0.294118	12.467136	13.11277	5	12	KEEP	---	---	---	---	capture		Silent	SNP	60739346	60739346	3156	11	C	A	A	A	405	32	CD6	2	2
C11orf66	220004	broad.mit.edu	37	11	61254452	61254452	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61254452G>C	uc001nru.1	+	c.867G>C	c.(865-867)GTG>GTC	p.V289V	C11orf66_uc009ynq.1_Silent_p.V269V	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	289										ovary(1)	1														0.195745	108.683796	129.024838	46	189	KEEP	---	---	---	---	capture		Silent	SNP	61254452	61254452	1695	11	G	C	C	C	574	45	C11orf66	3	3
AHNAK	79026	broad.mit.edu	37	11	62287559	62287559	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62287559T>A	uc001ntl.2	-	c.14330A>T	c.(14329-14331)CAC>CTC	p.H4777L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4777					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.173077	73.601935	94.587499	36	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62287559	62287559	417	11	T	A	A	A	767	59	AHNAK	3	3
AHNAK	79026	broad.mit.edu	37	11	62301100	62301100	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62301100C>A	uc001ntl.2	-	c.789G>T	c.(787-789)AAG>AAT	p.K263N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	263					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.210526	36.459818	42.350077	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62301100	62301100	417	11	C	A	A	A	311	24	AHNAK	2	2
EML3	256364	broad.mit.edu	37	11	62378705	62378705	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62378705C>T	uc001ntu.1	-	c.306G>A	c.(304-306)CTG>CTA	p.L102L	EML3_uc001ntr.1_Silent_p.L74L|EML3_uc001nts.1_Silent_p.L74L|EML3_uc001ntt.1_5'UTR|EML3_uc010rly.1_Silent_p.L102L|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	102						cytoplasm|microtubule	protein binding				0														0.181818	6.686034	8.780324	4	18	KEEP	---	---	---	---	capture		Silent	SNP	62378705	62378705	5290	11	C	T	T	T	366	29	EML3	2	2
GANAB	23193	broad.mit.edu	37	11	62400518	62400518	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62400518C>T	uc001nua.2	-	c.840G>A	c.(838-840)GGG>GGA	p.G280G	GANAB_uc001nub.2_Silent_p.G258G|GANAB_uc001nuc.2_Silent_p.G161G|GANAB_uc010rma.1_Silent_p.G166G|GANAB_uc010rmb.1_Silent_p.G144G	NM_198335	NP_938149	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 3	258					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)	4						Melanoma(23;1005 1074 15747 18937)								0.142857	8.545298	13.699532	6	36	KEEP	---	---	---	---	capture		Silent	SNP	62400518	62400518	6497	11	C	T	T	T	379	30	GANAB	2	2
GANAB	23193	broad.mit.edu	37	11	62402453	62402453	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62402453C>T	uc001nua.2	-	c.400G>A	c.(400-402)GAT>AAT	p.D134N	GANAB_uc001nub.2_Missense_Mutation_p.D134N|GANAB_uc001nuc.2_Missense_Mutation_p.D37N|GANAB_uc010rma.1_Missense_Mutation_p.D20N|GANAB_uc010rmb.1_Missense_Mutation_p.D20N	NM_198335	NP_938149	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 3	134					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)	4						Melanoma(23;1005 1074 15747 18937)								0.144928	14.329435	22.681684	10	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62402453	62402453	6497	11	C	T	T	T	377	29	GANAB	2	2
INTS5	80789	broad.mit.edu	37	11	62415445	62415445	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62415445C>T	uc001nud.2	-	c.2107G>A	c.(2107-2109)GAA>AAA	p.E703K	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	703					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.155556	12.193495	17.294874	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62415445	62415445	8082	11	C	T	T	T	416	32	INTS5	2	2
INTS5	80789	broad.mit.edu	37	11	62415784	62415784	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62415784C>T	uc001nud.2	-	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	590					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.131579	6.649749	11.662794	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62415784	62415784	8082	11	C	T	T	T	403	31	INTS5	1	1
C11orf83	790955	broad.mit.edu	37	11	62439292	62439292	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62439292C>T	uc001nui.3	+	c.75C>T	c.(73-75)CTC>CTT	p.L25L	C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN	hypothetical protein LOC790955 precursor	25						extracellular region					0														0.175	12.011665	15.995876	7	33	KEEP	---	---	---	---	capture		Silent	SNP	62439292	62439292	1705	11	C	T	T	T	392	31	C11orf83	1	1
UBXN1	51035	broad.mit.edu	37	11	62444224	62444224	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62444224C>A	uc001nuj.2	-	c.905G>T	c.(904-906)GGA>GTA	p.G302V	UBXN1_uc001num.1_Intron|UBXN1_uc001nul.1_Intron|UBXN1_uc001nuk.2_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	120	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.156863	24.324244	35.801223	16	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62444224	62444224	17469	11	C	A	A	A	390	30	UBXN1	2	2
UBXN1	51035	broad.mit.edu	37	11	62444240	62444240	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62444240T>A	uc001nuj.2	-	c.889A>T	c.(889-891)AGG>TGG	p.R297W	UBXN1_uc001num.1_Intron|UBXN1_uc001nul.1_Intron|UBXN1_uc001nuk.2_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	115	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.174757	32.999128	43.281539	18	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62444240	62444240	17469	11	T	A	A	A	687	53	UBXN1	3	3
UBXN1	51035	broad.mit.edu	37	11	62444306	62444306	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62444306C>G	uc001nuj.2	-	c.823G>C	c.(823-825)GAG>CAG	p.E275Q	UBXN1_uc001num.1_Missense_Mutation_p.E271Q|UBXN1_uc001nul.1_Missense_Mutation_p.E275Q|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	275	UBX.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.184615	57.021546	69.150469	24	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62444306	62444306	17469	11	C	G	G	G	390	30	UBXN1	3	3
UBXN1	51035	broad.mit.edu	37	11	62444318	62444318	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62444318C>A	uc001nuj.2	-	c.811G>T	c.(811-813)GAA>TAA	p.E271*	UBXN1_uc001num.1_Nonsense_Mutation_p.E267*|UBXN1_uc001nul.1_Nonsense_Mutation_p.E271*|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	271	UBX.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.19685	49.763137	60.695871	25	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62444318	62444318	17469	11	C	A	A	A	416	32	UBXN1	5	2
UBXN1	51035	broad.mit.edu	37	11	62445457	62445457	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62445457C>T	uc001nuj.2	-	c.424G>A	c.(424-426)GAG>AAG	p.E142K	UBXN1_uc001num.1_Missense_Mutation_p.E142K|UBXN1_uc001nul.1_Missense_Mutation_p.E142K|UBXN1_uc001nuk.2_Missense_Mutation_p.E107K|UBXN1_uc010rme.1_Missense_Mutation_p.E142K|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	142	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.210526	16.87783	19.824961	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62445457	62445457	17469	11	C	T	T	T	377	29	UBXN1	2	2
UBXN1	51035	broad.mit.edu	37	11	62445970	62445970	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62445970C>G	uc001nuj.2	-	c.217G>C	c.(217-219)GAA>CAA	p.E73Q	UBXN1_uc001num.1_Missense_Mutation_p.E73Q|UBXN1_uc001nul.1_Missense_Mutation_p.E73Q|UBXN1_uc001nuk.2_Missense_Mutation_p.E38Q|UBXN1_uc010rme.1_Missense_Mutation_p.E73Q|UBXN1_uc010rmf.1_Missense_Mutation_p.E73Q	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	73	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.113208	9.614852	17.435285	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62445970	62445970	17469	11	C	G	G	G	377	29	UBXN1	3	3
UBXN1	51035	broad.mit.edu	37	11	62446042	62446042	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62446042C>A	uc001nuj.2	-	c.145G>T	c.(145-147)GAC>TAC	p.D49Y	UBXN1_uc001num.1_Missense_Mutation_p.D49Y|UBXN1_uc001nul.1_Missense_Mutation_p.D49Y|UBXN1_uc001nuk.2_Missense_Mutation_p.D14Y|UBXN1_uc010rme.1_Missense_Mutation_p.D49Y|UBXN1_uc010rmf.1_Missense_Mutation_p.D49Y	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	49	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.113636	4.263239	10.728716	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62446042	62446042	17469	11	C	A	A	A	390	30	UBXN1	2	2
UBXN1	51035	broad.mit.edu	37	11	62446048	62446048	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62446048C>A	uc001nuj.2	-	c.139G>T	c.(139-141)GAT>TAT	p.D47Y	UBXN1_uc001num.1_Missense_Mutation_p.D47Y|UBXN1_uc001nul.1_Missense_Mutation_p.D47Y|UBXN1_uc001nuk.2_Missense_Mutation_p.D12Y|UBXN1_uc010rme.1_Missense_Mutation_p.D47Y|UBXN1_uc010rmf.1_Missense_Mutation_p.D47Y	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	47	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.148936	11.74894	17.264375	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62446048	62446048	17469	11	C	A	A	A	403	31	UBXN1	1	1
UBXN1	51035	broad.mit.edu	37	11	62446178	62446178	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62446178C>T	uc001nuj.2	-	c.97G>A	c.(97-99)GAG>AAG	p.E33K	UBXN1_uc001num.1_Missense_Mutation_p.E33K|UBXN1_uc001nul.1_Missense_Mutation_p.E33K|UBXN1_uc001nuk.2_5'UTR|UBXN1_uc010rme.1_Missense_Mutation_p.E33K|UBXN1_uc010rmf.1_Missense_Mutation_p.E33K	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	33	UBA.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|polyubiquitin binding				0														0.266667	11.393445	12.130913	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62446178	62446178	17469	11	C	T	T	T	403	31	UBXN1	1	1
GNG3	2785	broad.mit.edu	37	11	62476249	62476249	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62476249G>T	uc001nuv.2	+	c.199G>T	c.(199-201)GAG>TAG	p.E67*	BSCL2_uc001nuo.1_5'Flank|BSCL2_uc009yoc.1_5'Flank|BSCL2_uc001nup.2_5'Flank|BSCL2_uc001nuq.1_5'Flank|BSCL2_uc001nur.3_5'Flank|BSCL2_uc009yod.2_Intron|BSCL2_uc001nut.3_Intron|HNRNPUL2_uc001nuu.1_Intron	NM_012202	NP_036334	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein),	67					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity				0														0.171875	20.303375	26.802856	11	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62476249	62476249	6797	11	G	T	T	T	533	41	GNG3	5	2
TTC9C	283237	broad.mit.edu	37	11	62502894	62502894	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62502894G>T	uc001nux.2	+	c.678G>T	c.(676-678)GTG>GTT	p.V226V	TTC9C_uc001nuy.2_Silent_p.V93V	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	93	TPR 2.						binding			ovary(1)|pancreas(1)	2														0.176471	14.415563	19.516494	9	42	KEEP	---	---	---	---	capture		Silent	SNP	62502894	62502894	17272	11	G	T	T	T	574	45	TTC9C	2	2
TTC9C	283237	broad.mit.edu	37	11	62502931	62502931	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62502931G>C	uc001nux.2	+	c.715G>C	c.(715-717)GAT>CAT	p.D239H	TTC9C_uc001nuy.2_Missense_Mutation_p.D106H	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	106	TPR 2.						binding			ovary(1)|pancreas(1)	2														0.192308	23.000618	27.627324	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62502931	62502931	17272	11	G	C	C	C	585	45	TTC9C	3	3
SLC22A12	116085	broad.mit.edu	37	11	64360942	64360942	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64360942C>A	uc001oam.1	+	c.572C>A	c.(571-573)GCC>GAC	p.A191D	SLC22A12_uc009ypr.1_Missense_Mutation_p.A191D|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Missense_Mutation_p.A9D	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	191	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1														0.125	5.686924	13.304769	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64360942	64360942	14939	11	C	A	A	A	338	26	SLC22A12	2	2
NRXN2	9379	broad.mit.edu	37	11	64419599	64419599	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64419599C>T	uc001oar.2	-	c.2444G>A	c.(2443-2445)GGG>GAG	p.G815E	NRXN2_uc001oas.2_Missense_Mutation_p.G775E|NRXN2_uc001oaq.2_Missense_Mutation_p.G482E	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	173	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.285714	14.83534	15.705081	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64419599	64419599	11071	11	C	T	T	T	286	22	NRXN2	2	2
TRIM3	10612	broad.mit.edu	37	11	6472661	6472661	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6472661G>C	uc001mdh.2	-	c.1541C>G	c.(1540-1542)TCC>TGC	p.S514C	TRIM3_uc001mdi.2_Missense_Mutation_p.S514C|TRIM3_uc010raj.1_Missense_Mutation_p.S395C|TRIM3_uc009yfd.2_Missense_Mutation_p.S514C|TRIM3_uc010rak.1_Missense_Mutation_p.S514C	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	514	NHL 1.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Melanoma(6;5 510 1540 25169 29084)								0.227273	26.326323	29.330944	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6472661	6472661	17048	11	G	C	C	C	533	41	TRIM3	3	3
TM7SF2	7108	broad.mit.edu	37	11	64883491	64883491	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64883491G>C	uc001ocv.2	+	c.1286G>C	c.(1285-1287)CGT>CCT	p.R429P	TM7SF2_uc001oct.2_Missense_Mutation_p.R408P|TM7SF2_uc010rny.1_Missense_Mutation_p.R292P|TM7SF2_uc001ocu.2_Missense_Mutation_p.R381P	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	408					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1														0.241379	21.219412	22.9825	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64883491	64883491	16504	11	G	C	C	C	520	40	TM7SF2	3	3
SF3B2	10992	broad.mit.edu	37	11	65823007	65823007	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65823007A>C	uc001ogy.1	+	c.500A>C	c.(499-501)CAG>CCG	p.Q167P	SF3B2_uc001ogx.1_Splice_Site_SNP_p.G167_splice	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	167	Potential.				interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.105263	4.685291	10.558117	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65823007	65823007	14640	11	A	C	C	C	91	7	SF3B2	4	4
RAB1B	81876	broad.mit.edu	37	11	66039310	66039310	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66039310G>T	uc001ohf.2	+	c.57G>T	c.(55-57)GTG>GTT	p.V19V		NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	19	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0														0.177778	17.121518	21.483116	8	37	KEEP	---	---	---	---	capture		Silent	SNP	66039310	66039310	13365	11	G	T	T	T	600	47	RAB1B	2	2
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66114503C>A	uc001ohr.2	-	c.514G>T	c.(514-516)GAG>TAG	p.E172*	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal	172	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity				0														0.210526	7.588129	9.063493	4	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	66114503	66114503	1277	11	C	A	A	A	390	30	B3GNT1	5	2
ACTN3	89	broad.mit.edu	37	11	66328121	66328121	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66328121C>T	uc001oio.1	+	c.1755C>T	c.(1753-1755)ATC>ATT	p.I585I	ACTN3_uc010rpi.1_Non-coding_Transcript	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	585	Spectrin 3.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0														0.174603	19.675787	25.987256	11	52	KEEP	---	---	---	---	capture		Silent	SNP	66328121	66328121	207	11	C	T	T	T	382	30	ACTN3	2	2
SPTBN2	6712	broad.mit.edu	37	11	66483327	66483327	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66483327G>A	uc001ojd.2	-	c.283C>T	c.(283-285)CTC>TTC	p.L95F		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	95	CH 1.|Actin-binding.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.4	31.345958	31.564262	10	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66483327	66483327	15634	11	G	A	A	A	455	35	SPTBN2	2	2
C11orf80	79703	broad.mit.edu	37	11	66605891	66605891	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66605891T>A	uc001ojf.2	+	c.1722T>A	c.(1720-1722)GAT>GAA	p.D574E	C11orf80_uc001ojg.2_Missense_Mutation_p.D341E|C11orf80_uc001ojh.2_Missense_Mutation_p.D342E|C11orf80_uc001oji.2_Missense_Mutation_p.D342E|C11orf80_uc010rpl.1_Missense_Mutation_p.D208E|C11orf80_uc001ojj.2_Missense_Mutation_p.D172E	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	419											0														0.25	18.712557	20.302511	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66605891	66605891	1703	11	T	A	A	A	634	49	C11orf80	3	3
LRP5	4041	broad.mit.edu	37	11	68157355	68157355	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68157355G>T	uc001ont.2	+	c.1419G>T	c.(1417-1419)ATG>ATT	p.M473I	LRP5_uc009ysg.2_Intron	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	473	LDL-receptor class B 8.|Beta-propeller 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(1)|pancreas(1)	2														0.196078	24.022653	28.411088	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68157355	68157355	9333	11	G	T	T	T	624	48	LRP5	2	2
OR10A4	283297	broad.mit.edu	37	11	6898719	6898719	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898719G>T	uc010rat.1	+	c.841G>T	c.(841-843)GTG>TTG	p.V281L		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.192308	21.517174	26.119554	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6898719	6898719	11298	11	G	T	T	T	468	36	OR10A4	2	2
ZNF215	7762	broad.mit.edu	37	11	6953714	6953714	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6953714G>T	uc001mey.2	+	c.211G>T	c.(211-213)GAG>TAG	p.E71*	ZNF215_uc010raw.1_Nonsense_Mutation_p.E71*|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.E71*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	71	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)										0.162791	11.459728	16.060063	7	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6953714	6953714	18362	11	G	T	T	T	533	41	ZNF215	5	2
ZNF215	7762	broad.mit.edu	37	11	6962865	6962865	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6962865C>G	uc001mey.2	+	c.464C>G	c.(463-465)TCA>TGA	p.S155*	ZNF215_uc010raw.1_Nonsense_Mutation_p.S155*|ZNF215_uc010rax.1_5'UTR|ZNF215_uc001mez.1_Nonsense_Mutation_p.S155*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	155					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)										0.206897	13.704508	16.054383	6	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6962865	6962865	18362	11	C	G	G	G	377	29	ZNF215	5	3
OR5P3	120066	broad.mit.edu	37	11	7847327	7847327	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7847327G>A	uc010rbg.1	-	c.193C>T	c.(193-195)CAT>TAT	p.H65Y		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.177778	14.469253	18.873532	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7847327	7847327	11589	11	G	A	A	A	611	47	OR5P3	2	2
NLRP10	338322	broad.mit.edu	37	11	7981665	7981665	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7981665C>G	uc001mfv.1	-	c.1494G>C	c.(1492-1494)CTG>CTC	p.L498L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	498							ATP binding			lung(4)|ovary(2)|kidney(1)|pancreas(1)	8				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)						109				0.20339	22.871499	27.832397	12	47	KEEP	---	---	---	---	capture		Silent	SNP	7981665	7981665	10875	11	C	G	G	G	314	25	NLRP10	3	3
ANKRD42	338699	broad.mit.edu	37	11	82938914	82938914	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82938914G>T	uc001ozz.1	+	c.829G>T	c.(829-831)GCT>TCT	p.A277S	ANKRD42_uc010rsv.1_Missense_Mutation_p.A305S|ANKRD42_uc001paa.2_Missense_Mutation_p.A305S|ANKRD42_uc001pab.1_Missense_Mutation_p.A304S	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	277	ANK 8.										0														0.181818	26.361114	32.637322	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82938914	82938914	678	11	G	T	T	T	455	35	ANKRD42	2	2
GRM5	2915	broad.mit.edu	37	11	88583117	88583117	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:88583117T>C	uc001pcq.2	-	c.868A>G	c.(868-870)ATG>GTG	p.M290V	GRM5_uc009yvm.2_Missense_Mutation_p.M290V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	290	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(1)	5		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)									0.160714	15.343768	21.478825	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88583117	88583117	7079	11	T	C	C	C	663	51	GRM5	4	4
FOLH1B	219595	broad.mit.edu	37	11	89420534	89420534	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89420534G>T	uc001pda.2	+	c.536G>T	c.(535-537)GGC>GTC	p.G179V		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	179					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.125	5.888512	11.349432	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89420534	89420534	6222	11	G	T	T	T	546	42	FOLH1B	2	2
NAALAD2	10003	broad.mit.edu	37	11	89916115	89916115	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89916115C>T	uc001pdf.3	+	c.1972C>T	c.(1972-1974)CTG>TTG	p.L658L	NAALAD2_uc009yvx.2_Silent_p.L625L|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	658	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.094595	2.49327	14.689351	7	67	KEEP	---	---	---	---	capture		Silent	SNP	89916115	89916115	10523	11	C	T	T	T	259	20	NAALAD2	2	2
FAT3	120114	broad.mit.edu	37	11	92526085	92526085	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92526085G>T	uc001pdj.3	+	c.4764G>T	c.(4762-4764)GTG>GTT	p.V1588V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1588	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.191489	14.634615	18.834279	9	38	KEEP	---	---	---	---	capture		Silent	SNP	92526085	92526085	5927	11	G	T	T	T	574	45	FAT3	2	2
MTNR1B	4544	broad.mit.edu	37	11	92715442	92715442	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92715442C>A	uc001pdk.1	+	c.1053C>A	c.(1051-1053)CCC>CCA	p.P351P		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	351	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)									0.135802	17.671814	28.077312	11	70	KEEP	---	---	---	---	capture		Silent	SNP	92715442	92715442	10345	11	C	A	A	A	262	21	MTNR1B	2	2
KDM4D	55693	broad.mit.edu	37	11	94731714	94731714	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94731714G>T	uc001pfe.2	+	c.1178G>T	c.(1177-1179)AGT>ATT	p.S393I		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	393					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.206897	13.939636	16.244471	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94731714	94731714	8437	11	G	T	T	T	468	36	KDM4D	2	2
CLEC12A	160364	broad.mit.edu	37	12	10133289	10133289	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10133289C>T	uc001qwq.2	+	c.518C>T	c.(517-519)GCT>GTT	p.A173V	CLEC12A_uc001qwr.3_Missense_Mutation_p.A163V|CLEC12A_uc001qws.3_Missense_Mutation_p.A130V|CLEC12A_uc001qwt.2_Missense_Mutation_p.A92V	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	163	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding				0						Melanoma(197;1487 2125 16611 22221 34855)								0.189655	25.640949	30.827139	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10133289	10133289	3634	12	C	T	T	T	364	28	CLEC12A	2	2
SLC5A8	160728	broad.mit.edu	37	12	101587480	101587480	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101587480T>C	uc001thz.3	-	c.615A>G	c.(613-615)ATA>ATG	p.I205M		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	205	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.194175	51.511259	60.444269	20	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101587480	101587480	15168	12	T	C	C	C	732	57	SLC5A8	4	4
MYBPC1	4604	broad.mit.edu	37	12	102067343	102067343	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102067343C>A	uc010svs.1	+	c.2731C>A	c.(2731-2733)CTG>ATG	p.L911M	MYBPC1_uc001tig.2_Missense_Mutation_p.L918M|MYBPC1_uc010svq.1_Missense_Mutation_p.L880M|MYBPC1_uc001tih.2_Missense_Mutation_p.L918M|MYBPC1_uc001tii.2_Missense_Mutation_p.L911M|MYBPC1_uc001tij.2_Missense_Mutation_p.L893M|MYBPC1_uc010svr.1_Missense_Mutation_p.L893M|MYBPC1_uc010svt.1_Missense_Mutation_p.L881M|MYBPC1_uc010svu.1_Missense_Mutation_p.L874M|MYBPC1_uc001tik.2_Missense_Mutation_p.L867M|MYBPC1_uc001til.2_De_novo_Start_InFrame|MYBPC1_uc001tim.2_De_novo_Start_InFrame	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	911	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.173333	51.061888	66.172713	26	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102067343	102067343	10406	12	C	A	A	A	415	32	MYBPC1	2	2
MYBPC1	4604	broad.mit.edu	37	12	102071040	102071040	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:102071040C>A	uc010svs.1	+	c.2956C>A	c.(2956-2958)CAT>AAT	p.H986N	MYBPC1_uc001tig.2_Missense_Mutation_p.H993N|MYBPC1_uc010svq.1_Missense_Mutation_p.H955N|MYBPC1_uc001tih.2_Missense_Mutation_p.H993N|MYBPC1_uc001tii.2_Missense_Mutation_p.H986N|MYBPC1_uc001tij.2_Missense_Mutation_p.H968N|MYBPC1_uc010svr.1_Missense_Mutation_p.H968N|MYBPC1_uc010svt.1_Missense_Mutation_p.H956N|MYBPC1_uc010svu.1_Missense_Mutation_p.H949N|MYBPC1_uc001tik.2_Missense_Mutation_p.H942N|MYBPC1_uc001til.2_Missense_Mutation_p.H11N|MYBPC1_uc001tim.2_Missense_Mutation_p.H11N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	986	Fibronectin type-III 3.			YHRTSATI -> IIEPVPH (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)	3														0.171053	25.842463	33.606903	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102071040	102071040	10406	12	C	A	A	A	377	29	MYBPC1	2	2
STAB2	55576	broad.mit.edu	37	12	104136306	104136306	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104136306C>A	uc001tjw.2	+	c.6005C>A	c.(6004-6006)CCG>CAG	p.P2002Q	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2002	Extracellular (Potential).|Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(1)	10														0.216495	51.302186	58.436884	21	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104136306	104136306	15756	12	C	A	A	A	299	23	STAB2	1	1
POLR3B	55703	broad.mit.edu	37	12	106760300	106760300	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106760300G>T	uc001tlp.2	+	c.112G>T	c.(112-114)GGC>TGC	p.G38C	POLR3B_uc001tlq.2_De_novo_Start_OutOfFrame	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	38					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.2	9.354514	10.979648	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106760300	106760300	12657	12	G	T	T	T	455	35	POLR3B	2	2
POLR3B	55703	broad.mit.edu	37	12	106895214	106895214	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106895214G>C	uc001tlp.2	+	c.3098G>C	c.(3097-3099)AGG>ACG	p.R1033T	POLR3B_uc001tlq.2_Missense_Mutation_p.R975T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1033					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.230769	13.132683	14.864045	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106895214	106895214	12657	12	G	C	C	C	455	35	POLR3B	3	3
BTBD11	121551	broad.mit.edu	37	12	108012033	108012033	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108012033C>G	uc001tmk.1	+	c.2330C>G	c.(2329-2331)ACA>AGA	p.T777R	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.T777R|BTBD11_uc001tml.1_Missense_Mutation_p.T314R	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	777						integral to membrane	DNA binding			ovary(1)	1														0.192308	5.651685	7.968197	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108012033	108012033	1571	12	C	G	G	G	221	17	BTBD11	3	3
PRDM4	11108	broad.mit.edu	37	12	108145650	108145650	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108145650G>A	uc001tmp.2	-	c.668C>T	c.(667-669)TCC>TTC	p.S223F	PRDM4_uc001tmq.2_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	223					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|zinc ion binding			breast(1)	1														0.136364	8.421042	14.055038	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108145650	108145650	12901	12	G	A	A	A	533	41	PRDM4	2	2
CSDA	8531	broad.mit.edu	37	12	10871718	10871718	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10871718T>C	uc001qyt.2	-	c.287A>G	c.(286-288)AAA>AGA	p.K96R	CSDA_uc001qyu.2_Missense_Mutation_p.K96R	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	96	CSD.				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)|ovary(1)	2	Glioma(1;0.155)													0.25	37.180706	39.904795	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10871718	10871718	4068	12	T	C	C	C	832	64	CSDA	4	4
SART3	9733	broad.mit.edu	37	12	108936916	108936916	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108936916G>T	uc001tmz.1	-	c.794C>A	c.(793-795)ACA>AAA	p.T265K	SART3_uc001tmy.1_5'Flank|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.T265K|SART3_uc010swy.1_Missense_Mutation_p.T151K|SART3_uc010swz.1_Missense_Mutation_p.T265K|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	265	HAT 4.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1														0.169811	18.57676	24.017621	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108936916	108936916	14328	12	G	T	T	T	624	48	SART3	2	2
FOXN4	121643	broad.mit.edu	37	12	109723261	109723261	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109723261C>A	uc001toe.3	-	c.749G>T	c.(748-750)TGC>TTC	p.C250F	FOXN4_uc009zvg.2_Missense_Mutation_p.C47F|FOXN4_uc001tof.3_Missense_Mutation_p.C70F	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	250	Fork-head.				axon extension|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of gene-specific transcription|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2														0.142857	8.254808	12.553952	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109723261	109723261	6268	12	C	A	A	A	325	25	FOXN4	2	2
C12orf51	283450	broad.mit.edu	37	12	112654893	112654893	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112654893C>A	uc009zwc.2	-	c.5915G>T	c.(5914-5916)GGG>GTG	p.G1972V	C12orf51_uc001ttr.1_Missense_Mutation_p.G147V	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)	1														0.142857	4.344291	6.89869	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112654893	112654893	1740	12	C	A	A	A	286	22	C12orf51	2	2
RPH3A	22895	broad.mit.edu	37	12	113314541	113314541	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113314541C>G	uc010syl.1	+	c.1041C>G	c.(1039-1041)GAC>GAG	p.D347E	RPH3A_uc001ttz.2_Missense_Mutation_p.D347E|RPH3A_uc001tty.2_Missense_Mutation_p.D343E|RPH3A_uc009zwe.1_Missense_Mutation_p.D343E|RPH3A_uc010sym.1_Missense_Mutation_p.D298E|RPH3A_uc001tua.2_Missense_Mutation_p.D107E	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	347	Pro-rich.				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)										0.12766	7.929916	14.272832	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113314541	113314541	14030	12	C	G	G	G	233	18	RPH3A	3	3
OAS3	4940	broad.mit.edu	37	12	113400594	113400594	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113400594G>T	uc001tug.2	+	c.1971G>T	c.(1969-1971)ACG>ACT	p.T657T		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	657	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1														0.178947	35.903282	45.052246	17	78	KEEP	---	---	---	---	capture		Silent	SNP	113400594	113400594	11206	12	G	T	T	T	496	39	OAS3	1	1
PRB1	5542	broad.mit.edu	37	12	11506880	11506880	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11506880G>T	uc001qzw.1	-	c.157C>A	c.(157-159)CCT>ACT	p.P53T	PRB1_uc001qzu.1_Missense_Mutation_p.P53T|PRB1_uc001qzv.1_Missense_Mutation_p.P53T	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	53	1.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)											0.150602	32.221618	51.774242	25	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11506880	11506880	12884	12	G	T	T	T	533	41	PRB1	2	2
TAOK3	51347	broad.mit.edu	37	12	118598074	118598074	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:118598074T>C	uc001twx.2	-	c.2229A>G	c.(2227-2229)GAA>GAG	p.E743E	TAOK3_uc001twv.2_Silent_p.E283E|TAOK3_uc001tww.2_Silent_p.E573E|TAOK3_uc001twy.3_Silent_p.E743E	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	743					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)									500				0.172414	56.399136	71.091467	25	120	KEEP	---	---	---	---	capture		Silent	SNP	118598074	118598074	16070	12	T	C	C	C	725	56	TAOK3	4	4
P2RX4	5025	broad.mit.edu	37	12	121660769	121660769	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:121660769C>T	uc001tzs.2	+	c.495C>T	c.(493-495)TGC>TGT	p.C165C	P2RX4_uc010szr.1_Intron|P2RX4_uc010szs.1_Intron|P2RX4_uc001tzr.2_Silent_p.C149C|P2RX4_uc009zxc.2_Intron|P2RX4_uc009zxb.2_Non-coding_Transcript|P2RX4_uc010szt.1_Silent_p.C48C	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	purinergic receptor P2X4	149	Extracellular (Potential).				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|integral to plasma membrane|perinuclear region of cytoplasm	ATP binding|cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)													0.16	6.178927	8.942176	4	21	KEEP	---	---	---	---	capture		Silent	SNP	121660769	121660769	11755	12	C	T	T	T	350	27	P2RX4	1	1
VPS33A	65082	broad.mit.edu	37	12	122723133	122723133	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122723133C>A	uc001ucd.2	-	c.1302_splice	c.e10+1	p.Q434_splice	VPS33A_uc001ucc.2_Splice_Site_SNP	NM_022916	NP_075067			vacuolar protein sorting 33A						lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)										0.123288	14.167015	24.264097	9	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	122723133	122723133	17768	12	C	A	A	A	234	18	VPS33A	5	2
RSRC2	65117	broad.mit.edu	37	12	122991382	122991382	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122991382T>A	uc001ucu.2	-	c.1127A>T	c.(1126-1128)AAG>ATG	p.K376M	RSRC2_uc001uco.2_Missense_Mutation_p.K144M|RSRC2_uc001ucp.2_Missense_Mutation_p.K316M|RSRC2_uc001ucr.2_Missense_Mutation_p.K375M|RSRC2_uc001ucq.2_Missense_Mutation_p.K143M|RSRC2_uc001ucs.2_Missense_Mutation_p.K144M|RSRC2_uc001uct.2_Missense_Mutation_p.K327M	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	375										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)										0.197917	42.767669	50.926117	19	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122991382	122991382	14195	12	T	A	A	A	728	56	RSRC2	3	3
NCOR2	9612	broad.mit.edu	37	12	124826399	124826399	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124826399G>A	uc010tay.1	-	c.5179C>T	c.(5179-5181)CTG>TTG	p.L1727L	NCOR2_uc010taz.1_Silent_p.L1711L|NCOR2_uc010tba.1_Silent_p.L1728L|NCOR2_uc010tbb.1_Silent_p.L1720L|NCOR2_uc010tbc.1_Silent_p.L1710L|NCOR2_uc010tax.1_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1728					cellular lipid metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity|transcription repressor activity			ovary(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)										0.173913	22.756546	29.684365	12	57	KEEP	---	---	---	---	capture		Silent	SNP	124826399	124826399	10635	12	G	A	A	A	438	34	NCOR2	2	2
TMEM132D	121256	broad.mit.edu	37	12	129566543	129566543	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129566543C>A	uc009zyl.1	-	c.1684G>T	c.(1684-1686)GAG>TAG	p.E562*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.E100*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	562	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.169492	18.0248	24.117003	10	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129566543	129566543	16579	12	C	A	A	A	377	29	TMEM132D	5	2
TMEM132D	121256	broad.mit.edu	37	12	130184738	130184738	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130184738C>A	uc009zyl.1	-	c.585G>T	c.(583-585)GAG>GAT	p.E195D		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	195	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.257143	19.45959	21.332569	9	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130184738	130184738	16579	12	C	A	A	A	363	28	TMEM132D	2	2
EP400	57634	broad.mit.edu	37	12	132522603	132522603	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132522603G>T	uc001ujn.2	+	c.6169G>T	c.(6169-6171)GAA>TAA	p.E2057*	EP400_uc001ujl.2_Nonsense_Mutation_p.E2056*|EP400_uc001ujm.2_Nonsense_Mutation_p.E1976*	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2093					histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.151515	19.936675	31.517081	15	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132522603	132522603	5342	12	G	T	T	T	533	41	EP400	5	2
NOC4L	79050	broad.mit.edu	37	12	132630208	132630208	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132630208A>C	uc001ujz.1	+	c.343A>C	c.(343-345)AAG>CAG	p.K115Q	DDX51_uc001ujy.3_5'Flank	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	115					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)										0.1875	8.115459	9.578319	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132630208	132630208	10918	12	A	C	C	C	65	5	NOC4L	4	4
NOC4L	79050	broad.mit.edu	37	12	132630210	132630210	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132630210G>T	uc001ujz.1	+	c.345G>T	c.(343-345)AAG>AAT	p.K115N	DDX51_uc001ujy.3_5'Flank	NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	115					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)										0.1875	5.814483	7.278807	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132630210	132630210	10918	12	G	T	T	T	451	35	NOC4L	2	2
POLE	5426	broad.mit.edu	37	12	133214629	133214629	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133214629G>A	uc001uks.1	-	c.5649C>T	c.(5647-5649)GCC>GCT	p.A1883A	POLE_uc001ukq.1_Silent_p.A93A|POLE_uc001ukr.1_Silent_p.A687A|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1883					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)										0.282609	32.519553	34.500897	13	33	KEEP	---	---	---	---	capture		Silent	SNP	133214629	133214629	12624	12	G	A	A	A	600	47	POLE	2	2
GOLGA3	2802	broad.mit.edu	37	12	133373168	133373168	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133373168C>A	uc001ukz.1	-	c.2057G>T	c.(2056-2058)AGG>ATG	p.R686M	GOLGA3_uc001ula.1_Missense_Mutation_p.R686M|GOLGA3_uc001ulb.2_Missense_Mutation_p.R686M	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	686	Gln-rich.|Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)										0.2	54.907234	66.651993	28	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133373168	133373168	6823	12	C	A	A	A	312	24	GOLGA3	2	2
PTPRO	5800	broad.mit.edu	37	12	15733636	15733636	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15733636C>T	uc001rcv.1	+	c.3003C>T	c.(3001-3003)TAC>TAT	p.Y1001Y	PTPRO_uc001rcw.1_Silent_p.Y973Y|PTPRO_uc001rcx.1_Silent_p.Y190Y|PTPRO_uc001rcy.1_Silent_p.Y190Y|PTPRO_uc001rcz.1_Silent_p.Y162Y|PTPRO_uc001rda.1_Silent_p.Y162Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	1001	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.207547	25.01937	29.201775	11	42	KEEP	---	---	---	---	capture		Silent	SNP	15733636	15733636	13266	12	C	T	T	T	220	17	PTPRO	2	2
PDE3A	5139	broad.mit.edu	37	12	20806975	20806975	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20806975A>G	uc001reh.1	+	c.3020A>G	c.(3019-3021)CAC>CGC	p.H1007R		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	1007	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.159091	11.009742	15.876568	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20806975	20806975	12058	12	A	G	G	G	78	6	PDE3A	4	4
ABCC9	10060	broad.mit.edu	37	12	22040803	22040803	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22040803T>G	uc001rfh.2	-	c.1868A>C	c.(1867-1869)GAA>GCA	p.E623A	ABCC9_uc001rfi.1_Missense_Mutation_p.E623A|ABCC9_uc001rfj.1_Missense_Mutation_p.E623A	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	623	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.208333	40.379064	46.070012	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22040803	22040803	60	12	T	G	G	G	806	62	ABCC9	4	4
ETNK1	55500	broad.mit.edu	37	12	22811970	22811970	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22811970A>C	uc001rft.2	+	c.706A>C	c.(706-708)AAA>CAA	p.K236Q	ETNK1_uc009ziz.2_Missense_Mutation_p.K236Q	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	236				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						Esophageal Squamous(42;87 913 3224 6226 43339)								0.204082	25.42372	29.405476	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22811970	22811970	5466	12	A	C	C	C	169	13	ETNK1	4	4
LRMP	4033	broad.mit.edu	37	12	25232384	25232384	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25232384A>G	uc001rgh.2	+	c.124A>G	c.(124-126)ATA>GTA	p.I42V	LRMP_uc001rgg.1_Non-coding_Transcript|LRMP_uc010sja.1_Missense_Mutation_p.I42V|LRMP_uc010sjb.1_5'UTR|LRMP_uc001rgi.2_Non-coding_Transcript|LRMP_uc010sjc.1_Missense_Mutation_p.I42V|LRMP_uc010sjd.1_5'UTR	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	98	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)													0.280488	64.876103	68.44053	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25232384	25232384	9323	12	A	G	G	G	208	16	LRMP	4	4
ITPR2	3709	broad.mit.edu	37	12	26568288	26568288	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26568288C>A	uc001rhg.2	-	c.7254G>T	c.(7252-7254)AAG>AAT	p.K2418N	ITPR2_uc009zjg.1_Missense_Mutation_p.K569N	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2418	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.242857	42.139774	46.360328	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26568288	26568288	8225	12	C	A	A	A	311	24	ITPR2	2	2
TMTC1	83857	broad.mit.edu	37	12	29908738	29908738	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29908738C>A	uc001rjb.2	-	c.311G>T	c.(310-312)GGG>GTG	p.G104V	TMTC1_uc001rjc.1_Missense_Mutation_p.G104V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	104	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.125	4.376313	8.779449	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29908738	29908738	16801	12	C	A	A	A	286	22	TMTC1	2	2
CAPRIN2	65981	broad.mit.edu	37	12	30883196	30883196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30883196G>A	uc001rji.1	-	c.1081C>T	c.(1081-1083)CAG>TAG	p.Q361*	CAPRIN2_uc001rjf.1_Nonsense_Mutation_p.Q158*|CAPRIN2_uc001rjg.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjh.1_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjj.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjk.3_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjl.3_Nonsense_Mutation_p.Q361*|CAPRIN2_uc001rjm.1_Nonsense_Mutation_p.Q28*|CAPRIN2_uc001rjn.1_Nonsense_Mutation_p.Q28*	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	361					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.171429	11.017962	14.607854	6	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30883196	30883196	2755	12	G	A	A	A	611	47	CAPRIN2	5	2
PKP2	5318	broad.mit.edu	37	12	32977015	32977015	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32977015G>A	uc001rlj.3	-	c.1770C>T	c.(1768-1770)GTC>GTT	p.V590V	PKP2_uc001rlk.3_Silent_p.V546V|PKP2_uc010skj.1_Silent_p.V546V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	590	ARM 4.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.106383	3.465889	10.676756	5	42	KEEP	---	---	---	---	capture		Silent	SNP	32977015	32977015	12410	12	G	A	A	A	574	45	PKP2	2	2
PKP2	5318	broad.mit.edu	37	12	33031388	33031389	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:33031388_33031389CC>AA	uc001rlj.3	-	c.425_426GG>TT	c.(424-426)AGG>ATT	p.R142I	PKP2_uc001rlk.3_Missense_Mutation_p.R142I|PKP2_uc010skj.1_Missense_Mutation_p.R142I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	142					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)													0.197309	97.531745	116.539962	44	179	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	33031388	33031389	12410	12	CC	AA	AA	AA	337	26	PKP2	2	2
KIF21A	55605	broad.mit.edu	37	12	39705243	39705243	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:39705243C>T	uc001rly.2	-	c.4072G>A	c.(4072-4074)GAT>AAT	p.D1358N	KIF21A_uc001rlv.2_Missense_Mutation_p.D303N|KIF21A_uc001rlw.2_Missense_Mutation_p.D628N|KIF21A_uc001rlx.2_Missense_Mutation_p.D1345N|KIF21A_uc001rlz.2_Missense_Mutation_p.D1305N|KIF21A_uc010skl.1_Missense_Mutation_p.D1321N|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1358	WD 1.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|lung(1)|pancreas(1)	6		Lung NSC(34;0.179)|all_lung(34;0.213)												0.173333	21.36138	29.038038	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39705243	39705243	8599	12	C	T	T	T	377	29	KIF21A	2	2
LRRK2	120892	broad.mit.edu	37	12	40689247	40689247	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40689247C>T	uc001rmg.3	+	c.2897C>T	c.(2896-2898)TCC>TTC	p.S966F	LRRK2_uc001rmh.1_Missense_Mutation_p.S588F|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	966					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.113208	7.173699	14.944444	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40689247	40689247	9409	12	C	T	T	T	390	30	LRRK2	2	2
CNTN1	1272	broad.mit.edu	37	12	41323782	41323782	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41323782C>A	uc001rmm.1	+	c.681C>A	c.(679-681)ATC>ATA	p.I227I	CNTN1_uc009zjy.1_Silent_p.I227I|CNTN1_uc001rmn.1_Silent_p.I216I|CNTN1_uc001rmo.2_Silent_p.I227I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	227					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.138211	20.880115	36.48247	17	106	KEEP	---	---	---	---	capture		Silent	SNP	41323782	41323782	3778	12	C	A	A	A	382	30	CNTN1	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43826486	43826486	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43826486C>A	uc010skx.1	-	c.2849G>T	c.(2848-2850)GGT>GTT	p.G950V	ADAMTS20_uc001rno.1_Missense_Mutation_p.G104V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G104V	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	950	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.138462	15.345226	23.547165	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43826486	43826486	267	12	C	A	A	A	234	18	ADAMTS20	2	2
IRAK4	51135	broad.mit.edu	37	12	44167770	44167770	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44167770G>T	uc001rnu.3	+	c.654G>T	c.(652-654)ATG>ATT	p.M218I	IRAK4_uc001rnt.3_Missense_Mutation_p.M218I|IRAK4_uc001rnx.3_Missense_Mutation_p.M94I|IRAK4_uc001rny.3_Missense_Mutation_p.M94I|IRAK4_uc010sky.1_Missense_Mutation_p.M94I|IRAK4_uc001rnv.3_Missense_Mutation_p.M94I|IRAK4_uc001rnw.3_Missense_Mutation_p.M94I	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	218	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)					p.M94I(MDST8-Tumor)	243				0.136364	5.110171	7.926586	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44167770	44167770	8128	12	G	T	T	T	611	47	IRAK4	2	2
RAD51AP1	10635	broad.mit.edu	37	12	4665604	4665604	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4665604T>C	uc001qmw.2	+	c.858T>C	c.(856-858)ACT>ACC	p.T286T	RAD51AP1_uc001qmu.2_Silent_p.T269T|RAD51AP1_uc001qmv.2_Silent_p.T232T|RAD51AP1_uc010sep.1_Silent_p.T151T|RAD51AP1_uc010seq.1_Silent_p.T151T|RAD51AP1_uc009zeg.2_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	286					double-strand break repair via homologous recombination	nucleus	double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)											0.245614	38.012866	41.386029	14	43	KEEP	---	---	---	---	capture		Silent	SNP	4665604	4665604	13446	12	T	C	C	C	678	53	RAD51AP1	4	4
SLC38A4	55089	broad.mit.edu	37	12	47186734	47186734	+	Splice_Site_SNP	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:47186734A>T	uc001rpi.2	-	c.119_splice	c.e3+1	p.S40_splice	SLC38A4_uc001rpj.2_Splice_Site_SNP_p.S40_splice|SLC38A4_uc009zkl.2_Splice_Site_SNP_p.S40_splice	NM_018018	NP_060488			solute carrier family 38, member 4						cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.192)|Renal(347;0.236)													0.197802	76.673941	92.225773	36	146	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47186734	47186734	15103	12	A	T	T	T	182	14	SLC38A4	5	3
ADCY6	112	broad.mit.edu	37	12	49170083	49170083	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49170083T>A	uc001rsh.3	-	c.1586A>T	c.(1585-1587)GAG>GTG	p.E529V	ADCY6_uc001rsj.3_Missense_Mutation_p.E529V|ADCY6_uc001rsi.3_Missense_Mutation_p.E529V|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	529	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														0.209302	18.448576	21.815522	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49170083	49170083	299	12	T	A	A	A	702	54	ADCY6	3	3
MCRS1	10445	broad.mit.edu	37	12	49959862	49959862	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49959862G>T	uc001rui.1	-	c.186C>A	c.(184-186)TCC>TCA	p.S62S	MCRS1_uc001ruj.1_Silent_p.S36S|MCRS1_uc001ruk.1_Silent_p.S49S|MCRS1_uc001rul.1_Silent_p.S49S|MCRS1_uc009zlj.1_Intron|MCRS1_uc001rum.1_Silent_p.S36S|MCRS1_uc001run.1_Silent_p.S49S	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 2	49	Ser-rich.				protein modification process	cytoplasm|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1														0.164835	29.37174	39.073397	15	76	KEEP	---	---	---	---	capture		Silent	SNP	49959862	49959862	9788	12	G	T	T	T	600	47	MCRS1	2	2
AQP6	363	broad.mit.edu	37	12	50369313	50369313	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50369313C>G	uc001rvr.1	+	c.708C>G	c.(706-708)TTC>TTG	p.F236L	AQP6_uc001rvp.1_Missense_Mutation_p.F62L|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	236	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0														0.173913	45.54369	59.383328	24	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50369313	50369313	841	12	C	G	G	G	389	30	AQP6	3	3
FIGNL2	401720	broad.mit.edu	37	12	52215878	52215878	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52215878G>T	uc001rzc.2	-	c.320C>A	c.(319-321)CCC>CAC	p.P107H		NM_001013690	NP_001013712			fidgetin-like 2												0				BRCA - Breast invasive adenocarcinoma(357;0.135)										0.272727	7.520569	8.032473	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52215878	52215878	6131	12	G	T	T	T	559	43	FIGNL2	2	2
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52845437C>A	uc001sak.2	-	c.426G>T	c.(424-426)CAG>CAT	p.Q142H		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.104651	5.811542	19.185251	9	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52845437	52845437	8796	12	C	A	A	A	415	32	KRT6B	2	2
KRT5	3852	broad.mit.edu	37	12	52912811	52912811	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52912811A>T	uc001san.2	-	c.689T>A	c.(688-690)CTG>CAG	p.L230Q	KRT5_uc009zmh.2_Missense_Mutation_p.L230Q	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	230	Rod.|Coil 1B.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.147887	33.686839	50.599929	21	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52912811	52912811	8794	12	A	T	T	T	91	7	KRT5	3	3
KRT72	140807	broad.mit.edu	37	12	52994868	52994868	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52994868G>T	uc001sar.2	-	c.369C>A	c.(367-369)GCC>GCA	p.A123A	KRT72_uc001saq.2_Silent_p.A123A|KRT72_uc010sns.1_Silent_p.A123A|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	123	Head.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)										0.236364	29.409301	32.863097	13	42	KEEP	---	---	---	---	capture		Silent	SNP	52994868	52994868	8800	12	G	T	T	T	548	43	KRT72	2	2
KRT79	338785	broad.mit.edu	37	12	53215770	53215770	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53215770C>A	uc001sbb.2	-	c.1494G>T	c.(1492-1494)AAG>AAT	p.K498N	KRT79_uc001sba.2_Missense_Mutation_p.K269N	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	498	Tail.					keratin filament	structural molecule activity			ovary(2)	2														0.3	32.183093	33.613408	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53215770	53215770	8807	12	C	A	A	A	311	24	KRT79	2	2
NEUROD4	58158	broad.mit.edu	37	12	55421015	55421015	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55421015C>G	uc001sgp.3	+	c.792C>G	c.(790-792)TCC>TCG	p.S264S		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(3)	3														0.198198	44.621241	54.127988	22	89	KEEP	---	---	---	---	capture		Silent	SNP	55421015	55421015	10750	12	C	G	G	G	301	24	NEUROD4	3	3
NEUROD4	58158	broad.mit.edu	37	12	55421034	55421034	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55421034C>A	uc001sgp.3	+	c.811C>A	c.(811-813)CCT>ACT	p.P271T		NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	neurogenic differentiation 4	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(3)	3														0.2	48.895595	59.369978	25	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55421034	55421034	10750	12	C	A	A	A	390	30	NEUROD4	2	2
PAN2	9924	broad.mit.edu	37	12	56713716	56713716	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56713716T>A	uc001skx.2	-	c.2890A>T	c.(2890-2892)ATG>TTG	p.M964L	PAN2_uc001skw.2_Missense_Mutation_p.M112L|PAN2_uc001skz.2_Missense_Mutation_p.M963L|PAN2_uc001sky.2_Missense_Mutation_p.M960L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	964					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|large_intestine(1)|skin(1)	4														0.232558	23.822903	26.64763	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56713716	56713716	11831	12	T	A	A	A	650	50	PAN2	3	3
LRP1	4035	broad.mit.edu	37	12	57569858	57569858	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57569858G>T	uc001snd.2	+	c.3960G>T	c.(3958-3960)AAG>AAT	p.K1320N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1320	LDL-receptor class B 8.|Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456		OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.192308	18.717504	23.31851	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57569858	57569858	9324	12	G	T	T	T	425	33	LRP1	2	2
R3HDM2	22864	broad.mit.edu	37	12	57663634	57663634	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57663634C>G	uc001snt.2	-	c.1488G>C	c.(1486-1488)ACG>ACC	p.T496T	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.T177T|R3HDM2_uc001snr.2_Silent_p.T209T|R3HDM2_uc009zpm.1_Silent_p.T482T|R3HDM2_uc001sns.2_Silent_p.T482T|R3HDM2_uc009zpn.1_Silent_p.T105T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	482	Gln-rich.					nucleus	nucleic acid binding			ovary(1)	1														0.21875	14.808744	17.14118	7	25	KEEP	---	---	---	---	capture		Silent	SNP	57663634	57663634	13347	12	C	G	G	G	288	23	R3HDM2	3	3
AVPR1A	552	broad.mit.edu	37	12	63543872	63543873	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63543872_63543873CG>AA	uc001sro.1	-	c.744_745CG>TT	c.(742-747)CGCGGG>CGTTGG	p.G249W		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.154545	28.527672	41.062569	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	63543872	63543873	1252	12	CG	AA	AA	AA	299	23	AVPR1A	1	1
DPY19L2	283417	broad.mit.edu	37	12	63976267	63976267	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:63976267G>T	uc001srp.1	-	c.1644C>A	c.(1642-1644)GCC>GCA	p.A548A	DPY19L2_uc010sso.1_5'UTR	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	548	Helical; (Potential).				multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)	1			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)										0.266667	21.089116	22.562784	8	22	KEEP	---	---	---	---	capture		Silent	SNP	63976267	63976267	4925	12	G	T	T	T	548	43	DPY19L2	2	2
BEST3	144453	broad.mit.edu	37	12	70072552	70072552	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70072552G>A	uc001svg.2	-	c.603C>T	c.(601-603)ATC>ATT	p.I201I	BEST3_uc001svd.1_Silent_p.I201I|BEST3_uc001sve.1_Non-coding_Transcript|BEST3_uc001svf.2_Silent_p.I39I|BEST3_uc010stm.1_Silent_p.I95I|BEST3_uc001svh.2_Silent_p.I39I	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	201	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)											0.279412	51.100925	54.073367	19	49	KEEP	---	---	---	---	capture		Silent	SNP	70072552	70072552	1429	12	G	A	A	A	577	45	BEST3	2	2
PTPRB	5787	broad.mit.edu	37	12	70948995	70948995	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70948995G>C	uc001swc.3	-	c.5088C>G	c.(5086-5088)TTC>TTG	p.F1696L	PTPRB_uc001swb.3_Missense_Mutation_p.F1478L|PTPRB_uc010sto.1_Missense_Mutation_p.F1388L|PTPRB_uc010stp.1_Missense_Mutation_p.F1388L|PTPRB_uc001swa.3_Missense_Mutation_p.F1608L	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1478	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.236842	28.3817	30.76854	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70948995	70948995	13253	12	G	C	C	C	581	45	PTPRB	3	3
RAB21	23011	broad.mit.edu	37	12	72179334	72179334	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72179334G>C	uc001swt.2	+	c.559G>C	c.(559-561)GAT>CAT	p.D187H		NM_014999	NP_055814	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	187					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding				0														0.148148	6.283477	9.492242	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72179334	72179334	13367	12	G	C	C	C	533	41	RAB21	3	3
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:73056937G>C	uc001sxa.2	+	c.3037G>C	c.(3037-3039)GAG>CAG	p.E1013Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.190476	19.275776	23.03716	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73056937	73056937	17023	12	G	C	C	C	481	37	TRHDE	3	3
PEX5	5830	broad.mit.edu	37	12	7362816	7362816	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7362816G>T	uc010sgd.1	+	c.1980G>T	c.(1978-1980)CAG>CAT	p.Q660H	PEX5_uc009zfu.1_Missense_Mutation_p.Q639H|PEX5_uc001qsw.2_Missense_Mutation_p.Q639H|PEX5_uc010sgc.1_Missense_Mutation_p.Q654H|PEX5_uc001qsu.2_Missense_Mutation_p.Q602H|PEX5_uc001qsv.2_Missense_Mutation_p.Q631H	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	639					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1														0.244898	30.97416	33.880331	12	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7362816	7362816	12170	12	G	T	T	T	464	36	PEX5	2	2
KCNC2	3747	broad.mit.edu	37	12	75444272	75444272	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75444272A>T	uc001sxg.1	-	c.1513T>A	c.(1513-1515)TCA>ACA	p.S505T	KCNC2_uc009zry.2_Missense_Mutation_p.S505T|KCNC2_uc001sxe.2_Missense_Mutation_p.S505T|KCNC2_uc001sxf.2_Missense_Mutation_p.S505T|KCNC2_uc010stw.1_Missense_Mutation_p.S505T	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	505	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.211538	48.537676	56.510924	22	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75444272	75444272	8320	12	A	T	T	T	143	11	KCNC2	3	3
NAV3	89795	broad.mit.edu	37	12	78515894	78515894	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78515894C>A	uc001syp.2	+	c.3924C>A	c.(3922-3924)AGC>AGA	p.S1308R	NAV3_uc001syo.2_Missense_Mutation_p.S1308R|NAV3_uc010sub.1_Missense_Mutation_p.S808R|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1308	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.146341	8.323814	13.254633	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78515894	78515894	10581	12	C	A	A	A	324	25	NAV3	2	2
NAV3	89795	broad.mit.edu	37	12	78574729	78574729	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78574729C>A	uc001syp.2	+	c.5596C>A	c.(5596-5598)CCG>ACG	p.P1866T	NAV3_uc001syo.2_Missense_Mutation_p.P1844T|NAV3_uc010sub.1_Missense_Mutation_p.P1323T|NAV3_uc009zsf.2_Missense_Mutation_p.P675T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1866						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.186047	15.180661	19.153086	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78574729	78574729	10581	12	C	A	A	A	234	18	NAV3	2	2
NAV3	89795	broad.mit.edu	37	12	78593237	78593237	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78593237T>C	uc001syp.2	+	c.6641T>C	c.(6640-6642)ATA>ACA	p.I2214T	NAV3_uc001syo.2_Missense_Mutation_p.I2192T|NAV3_uc010sub.1_Missense_Mutation_p.I1671T|NAV3_uc009zsf.2_Missense_Mutation_p.I1023T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	2214						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.216667	33.944874	38.385829	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78593237	78593237	10581	12	T	C	C	C	637	49	NAV3	4	4
ACSS3	79611	broad.mit.edu	37	12	81532992	81532992	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81532992A>T	uc001szl.1	+	c.728A>T	c.(727-729)AAA>ATA	p.K243I	ACSS3_uc001szm.1_Missense_Mutation_p.K242I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	243						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.1875	23.859702	29.714977	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81532992	81532992	191	12	A	T	T	T	13	1	ACSS3	3	3
PPFIA2	8499	broad.mit.edu	37	12	81741468	81741468	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81741468G>T	uc001szo.1	-	c.2076C>A	c.(2074-2076)GGC>GGA	p.G692G	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Non-coding_Transcript|PPFIA2_uc010suh.1_Non-coding_Transcript|PPFIA2_uc010sui.1_Non-coding_Transcript|PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript|PPFIA2_uc010suf.1_Non-coding_Transcript|PPFIA2_uc009zsh.2_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	692	Potential.				cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.130435	12.946969	22.013445	9	60	KEEP	---	---	---	---	capture		Silent	SNP	81741468	81741468	12740	12	G	T	T	T	535	42	PPFIA2	2	2
C3AR1	719	broad.mit.edu	37	12	8211786	8211786	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8211786G>T	uc001qtv.1	-	c.996C>A	c.(994-996)CCC>CCA	p.P332P		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	332	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)										0.112676	5.339113	15.895554	8	63	KEEP	---	---	---	---	capture		Silent	SNP	8211786	8211786	2297	12	G	T	T	T	548	43	C3AR1	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85518200	85518200	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85518200G>T	uc001tac.2	+	c.3910G>T	c.(3910-3912)GCA>TCA	p.A1304S	LRRIQ1_uc001tab.1_Missense_Mutation_p.A1304S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1304										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.184211	52.401073	66.658753	28	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85518200	85518200	9405	12	G	T	T	T	546	42	LRRIQ1	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85546088	85546088	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85546088G>T	uc001tac.2	+	c.4360G>T	c.(4360-4362)GAT>TAT	p.D1454Y		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1454										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.166667	23.624808	31.845839	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85546088	85546088	9405	12	G	T	T	T	429	33	LRRIQ1	2	2
CEP290	80184	broad.mit.edu	37	12	88465670	88465670	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88465670C>A	uc001tar.2	-	c.5743G>T	c.(5743-5745)GGT>TGT	p.G1915C	CEP290_uc001taq.2_Missense_Mutation_p.G975C	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1915	Potential.				cell projection organization|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding|transcription activator activity			ovary(5)|breast(1)|pancreas(1)	7														0.333333	14.370856	14.739438	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88465670	88465670	3386	12	C	A	A	A	312	24	CEP290	2	2
A2M	2	broad.mit.edu	37	12	9225254	9225254	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9225254G>T	uc001qvk.1	-	c.3970C>A	c.(3970-3972)CTC>ATC	p.L1324I	A2M_uc001qvj.1_Missense_Mutation_p.L366I|A2M_uc009zgk.1_Missense_Mutation_p.L1174I	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1324					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.149425	19.942764	30.182765	13	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9225254	9225254	5	12	G	T	T	T	455	35	A2M	2	2
SLC25A3	5250	broad.mit.edu	37	12	98987861	98987861	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:98987861G>A	uc001tfo.2	+	c.105G>A	c.(103-105)GGG>GGA	p.G35G	SLC25A3_uc001tfm.2_Silent_p.G35G|SLC25A3_uc001tfn.2_Silent_p.G35G|SLC25A3_uc001tfp.2_Silent_p.G35G|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Silent_p.G35G|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Silent_p.G35G|SLC25A3_uc001tft.2_Silent_p.G35G	NM_005888	NP_005879	Q00325	MPCP_HUMAN	solute carrier family 25 member 3 isoform a	35					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity				0		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)										0.166667	5.028699	6.914868	3	15	KEEP	---	---	---	---	capture		Silent	SNP	98987861	98987861	14990	12	G	A	A	A	535	42	SLC25A3	2	2
SLC10A2	6555	broad.mit.edu	37	13	103703647	103703647	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103703647C>A	uc001vpy.3	-	c.721G>T	c.(721-723)GGG>TGG	p.G241W		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	241	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.269231	19.412894	20.662668	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103703647	103703647	14869	13	C	A	A	A	286	22	SLC10A2	2	2
TUBA3C	7278	broad.mit.edu	37	13	19751540	19751540	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19751540G>T	uc009zzj.2	-	c.583C>A	c.(583-585)CTG>ATG	p.L195M		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	195					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)										0.141304	19.133861	30.573419	13	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19751540	19751540	17301	13	G	T	T	T	451	35	TUBA3C	2	2
FAM123A	219287	broad.mit.edu	37	13	25745661	25745661	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25745661C>T	uc001uqb.2	-	c.97G>A	c.(97-99)GGG>AGG	p.G33R	FAM123A_uc001uqa.2_Missense_Mutation_p.G33R|FAM123A_uc001uqc.2_Missense_Mutation_p.G33R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	33	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.375	9.228512	9.33607	3	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25745661	25745661	5619	13	C	T	T	T	299	23	FAM123A	1	1
FLT1	2321	broad.mit.edu	37	13	28893581	28893581	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28893581G>A	uc001usb.3	-	c.3265C>T	c.(3265-3267)CTG>TTG	p.L1089L	FLT1_uc010aap.2_Silent_p.L94L|FLT1_uc010aaq.2_Silent_p.L214L|FLT1_uc001usa.3_Silent_p.L307L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1089	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.363636	12.009006	12.183872	4	7	KEEP	---	---	---	---	capture		Silent	SNP	28893581	28893581	6183	13	G	A	A	A	438	34	FLT1	2	2
USPL1	10208	broad.mit.edu	37	13	31221131	31221131	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31221131C>G	uc001utc.2	+	c.1175C>G	c.(1174-1176)GCC>GGC	p.A392G	USPL1_uc001utb.2_Missense_Mutation_p.A211G|USPL1_uc001utd.2_Missense_Mutation_p.A63G|USPL1_uc001ute.1_Missense_Mutation_p.A63G	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	392					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(1)	1		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		Ovarian(60;318 1180 1554 28110 31601)								0.346939	53.36611	54.376744	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31221131	31221131	17656	13	C	G	G	G	338	26	USPL1	3	3
POSTN	10631	broad.mit.edu	37	13	38160919	38160919	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38160919T>A	uc001uwo.3	-	c.753A>T	c.(751-753)AGA>AGT	p.R251S	POSTN_uc001uwp.3_Missense_Mutation_p.R251S|POSTN_uc001uwr.2_Missense_Mutation_p.R251S|POSTN_uc001uwq.2_Missense_Mutation_p.R251S|POSTN_uc010teu.1_Missense_Mutation_p.R251S|POSTN_uc010tev.1_Missense_Mutation_p.R251S|POSTN_uc010tew.1_Missense_Mutation_p.R251S|POSTN_uc010tex.1_Missense_Mutation_p.R166S	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	251	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.25	20.500138	22.307819	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38160919	38160919	12688	13	T	A	A	A	699	54	POSTN	3	3
THSD1	55901	broad.mit.edu	37	13	52960290	52960290	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52960290C>A	uc001vgo.2	-	c.1053G>T	c.(1051-1053)CAG>CAT	p.Q351H	THSD1_uc001vgp.2_Intron|THSD1_uc010tgz.1_5'UTR|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	351	Extracellular (Potential).|TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.22807	31.347434	35.213289	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52960290	52960290	16405	13	C	A	A	A	259	20	THSD1	2	2
OXGR1	27199	broad.mit.edu	37	13	97639466	97639466	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97639466C>A	uc001vmx.1	-	c.548G>T	c.(547-549)TGT>TTT	p.C183F	OXGR1_uc010afr.1_Missense_Mutation_p.C183F	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	183	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)											0.242424	20.384056	22.380144	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97639466	97639466	11745	13	C	A	A	A	221	17	OXGR1	2	2
OXGR1	27199	broad.mit.edu	37	13	97639828	97639828	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:97639828C>G	uc001vmx.1	-	c.186G>C	c.(184-186)ATG>ATC	p.M62I	OXGR1_uc010afr.1_Missense_Mutation_p.M62I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	62	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)											0.5	15.180994	15.180994	5	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97639828	97639828	11745	13	C	G	G	G	377	29	OXGR1	3	3
CYP46A1	10858	broad.mit.edu	37	14	100182205	100182205	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100182205G>T	uc001ygo.2	+	c.752G>T	c.(751-753)CGC>CTC	p.R251L	CYP46A1_uc001ygp.2_Missense_Mutation_p.R98L	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	251					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)												0.117647	5.122383	9.968146	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100182205	100182205	4347	14	G	T	T	T	494	38	CYP46A1	1	1
C14orf68	283600	broad.mit.edu	37	14	100795129	100795129	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100795129C>G	uc001yhc.2	+	c.394C>G	c.(394-396)CAG>GAG	p.Q132E	C14orf68_uc001yhd.2_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	132	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)												0.137931	8.080295	11.756431	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100795129	100795129	1828	14	C	G	G	G	325	25	C14orf68	3	3
CINP	51550	broad.mit.edu	37	14	102825902	102825902	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102825902C>A	uc001ylv.1	-	c.30G>T	c.(28-30)ACG>ACT	p.T10T	CINP_uc001ylu.1_Non-coding_Transcript	NM_032630	NP_116019	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2-interacting protein	10					cell cycle|cell division|DNA repair|DNA replication	nucleus				large_intestine(1)	1														0.140845	16.336764	25.151594	10	61	KEEP	---	---	---	---	capture		Silent	SNP	102825902	102825902	3565	14	C	A	A	A	340	27	CINP	1	1
OR4K5	79317	broad.mit.edu	37	14	20389047	20389047	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20389047C>A	uc010tkw.1	+	c.282C>A	c.(280-282)TTC>TTA	p.F94L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.053191	-29.909653	29.536633	15	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20389047	20389047	11483	14	C	A	A	A	376	29	OR4K5	2	2
TEP1	7011	broad.mit.edu	37	14	20864809	20864809	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20864809C>T	uc001vxe.2	-	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.E436K	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	544	TROVE.				telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.272727	8.220004	8.732196	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20864809	20864809	16286	14	C	T	T	T	377	29	TEP1	2	2
JUB	84962	broad.mit.edu	37	14	23450581	23450581	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23450581C>A	uc001whz.2	-	c.895G>T	c.(895-897)GGA>TGA	p.G299*		NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	299	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		Esophageal Squamous(134;328 1721 9795 37986 41605)								0.24	15.274561	16.792194	6	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23450581	23450581	8272	14	C	A	A	A	299	23	JUB	5	1
MYH6	4624	broad.mit.edu	37	14	23856749	23856749	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23856749C>G	uc001wjv.2	-	c.4639G>C	c.(4639-4641)GAG>CAG	p.E1547Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1547	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.222222	21.987839	24.537866	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23856749	23856749	10433	14	C	G	G	G	390	30	MYH6	3	3
IPO4	79711	broad.mit.edu	37	14	24656934	24656934	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24656934C>A	uc001wmv.1	-	c.347G>T	c.(346-348)TGG>TTG	p.W116L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc001wmz.1_Missense_Mutation_p.W116L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	116					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)										0.208955	29.432682	34.679415	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24656934	24656934	8096	14	C	A	A	A	273	21	IPO4	2	2
NYNRIN	57523	broad.mit.edu	37	14	24884157	24884157	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24884157C>T	uc001wpf.3	+	c.3202C>T	c.(3202-3204)CCC>TCC	p.P1068S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	1068					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.116667	7.695233	16.359872	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24884157	24884157	11201	14	C	T	T	T	286	22	NYNRIN	2	2
NOVA1	4857	broad.mit.edu	37	14	26918030	26918030	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:26918030A>G	uc001wpy.2	-	c.659T>C	c.(658-660)GTT>GCT	p.V220A	NOVA1_uc001wpz.2_Missense_Mutation_p.V196A|NOVA1_uc001wqa.2_Missense_Mutation_p.V98A	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	223	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|liver(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.0135)						340				0.121212	15.933655	29.860251	12	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26918030	26918030	10958	14	A	G	G	G	26	2	NOVA1	4	4
FBXO33	254170	broad.mit.edu	37	14	39870665	39870665	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:39870665G>T	uc001wvk.2	-	c.1111C>A	c.(1111-1113)CGG>AGG	p.R371R		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	F-box protein 33	371											0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)										0.2	22.134711	26.826916	11	44	KEEP	---	---	---	---	capture		Silent	SNP	39870665	39870665	5980	14	G	T	T	T	480	37	FBXO33	1	1
LRFN5	145581	broad.mit.edu	37	14	42356335	42356335	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:42356335G>A	uc001wvm.2	+	c.507G>A	c.(505-507)AAG>AAA	p.K169K	LRFN5_uc010ana.2_Silent_p.K169K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	169	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)										0.076923	-1.040024	8.488973	4	48	KEEP	---	---	---	---	capture		Silent	SNP	42356335	42356335	9314	14	G	A	A	A	425	33	LRFN5	2	2
FSCB	84075	broad.mit.edu	37	14	44973781	44973781	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44973781G>T	uc001wvn.2	-	c.2410C>A	c.(2410-2412)CAG>AAG	p.Q804K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	804						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.121212	9.874085	19.13843	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44973781	44973781	6316	14	G	T	T	T	624	48	FSCB	2	2
FSCB	84075	broad.mit.edu	37	14	44975604	44975604	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975604G>A	uc001wvn.2	-	c.587C>T	c.(586-588)CCT>CTT	p.P196L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	196						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.177419	47.572242	59.72815	22	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975604	44975604	6316	14	G	A	A	A	455	35	FSCB	2	2
FAM179B	23116	broad.mit.edu	37	14	45432037	45432037	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45432037G>C	uc001wvw.2	+	c.413G>C	c.(412-414)CGG>CCG	p.R138P	FAM179B_uc001wvv.2_Missense_Mutation_p.R138P|FAM179B_uc010anc.2_Non-coding_Transcript|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R138P|FAM179B_uc001wvu.2_Missense_Mutation_p.R138P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	138							binding				0														0.259615	65.849405	71.320782	27	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45432037	45432037	5712	14	G	C	C	C	507	39	FAM179B	3	3
MDGA2	161357	broad.mit.edu	37	14	47342692	47342692	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47342692G>T	uc001wwj.3	-	c.2489C>A	c.(2488-2490)CCC>CAC	p.P830H	MDGA2_uc001wwh.3_Missense_Mutation_p.P32H|MDGA2_uc001wwi.3_Missense_Mutation_p.P601H|MDGA2_uc010ani.2_Missense_Mutation_p.P390H	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	830	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.098901	6.106646	20.747769	9	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47342692	47342692	9796	14	G	T	T	T	559	43	MDGA2	2	2
NID2	22795	broad.mit.edu	37	14	52505472	52505472	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52505472C>A	uc001wzo.2	-	c.2250G>T	c.(2248-2250)CCG>CCT	p.P750P	NID2_uc010tqs.1_Silent_p.P750P|NID2_uc010tqt.1_Silent_p.P750P|NID2_uc001wzp.2_Silent_p.P750P	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	750	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.153846	7.386387	10.362359	4	22	KEEP	---	---	---	---	capture		Silent	SNP	52505472	52505472	10816	14	C	A	A	A	288	23	NID2	1	1
MUDENG	55745	broad.mit.edu	37	14	57749878	57749878	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57749878C>A	uc001xcv.2	+	c.1223C>A	c.(1222-1224)ACT>AAT	p.T408N	MUDENG_uc010tri.1_Missense_Mutation_p.T162N|MUDENG_uc010trj.1_Missense_Mutation_p.T305N	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	408	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1														0.16129	17.407664	24.182407	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57749878	57749878	10377	14	C	A	A	A	260	20	MUDENG	2	2
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59112625C>T	uc001xdw.2	+	c.1284C>T	c.(1282-1284)GCC>GCT	p.A428A	DACT1_uc010trv.1_Silent_p.A147A|DACT1_uc001xdx.2_Silent_p.A391A|DACT1_uc010trw.1_Silent_p.A147A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	428					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.171429	12.991264	16.513929	6	29	KEEP	---	---	---	---	capture		Silent	SNP	59112625	59112625	4388	14	C	T	T	T	288	23	DACT1	1	1
DAAM1	23002	broad.mit.edu	37	14	59757934	59757934	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59757934G>T	uc001xdz.1	+	c.184_splice	c.e3-1	p.D62_splice	DAAM1_uc001xea.1_Splice_Site_SNP_p.D62_splice|DAAM1_uc001xeb.1_Splice_Site_SNP_p.D62_splice	NM_014992	NP_055807			dishevelled-associated activator of						actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)										0.380952	23.394856	23.655946	8	13	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	59757934	59757934	4381	14	G	T	T	T	455	35	DAAM1	5	2
SYT16	83851	broad.mit.edu	37	14	62536500	62536500	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:62536500G>A	uc001xfu.1	+	c.703G>A	c.(703-705)GGA>AGA	p.G235R	SYT16_uc010tsd.1_Missense_Mutation_p.G235R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	235										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)										0.146341	11.222317	16.151651	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62536500	62536500	15993	14	G	A	A	A	507	39	SYT16	1	1
SYNE2	23224	broad.mit.edu	37	14	64518958	64518958	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64518958T>C	uc001xgl.2	+	c.8327T>C	c.(8326-8328)CTA>CCA	p.L2776P	SYNE2_uc001xgm.2_Missense_Mutation_p.L2776P	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2776	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.174312	43.47017	54.370458	19	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64518958	64518958	15967	14	T	C	C	C	689	53	SYNE2	4	4
PLEKHG3	26030	broad.mit.edu	37	14	65210038	65210038	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65210038G>C	uc001xhp.2	+	c.3640G>C	c.(3640-3642)GGC>CGC	p.G1214R	PLEKHG3_uc001xhn.1_Missense_Mutation_p.G1037R|PLEKHG3_uc001xho.1_Missense_Mutation_p.G1093R|PLEKHG3_uc010aqh.1_Missense_Mutation_p.G635R|PLEKHG3_uc001xhq.1_Missense_Mutation_p.G598R	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1093					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)										0.227273	12.26978	13.767217	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65210038	65210038	12496	14	G	C	C	C	559	43	PLEKHG3	3	3
RGS6	9628	broad.mit.edu	37	14	72939587	72939587	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72939587C>A	uc010ttp.1	+	c.337C>A	c.(337-339)CGG>AGG	p.R113R	RGS6_uc010ttn.1_Silent_p.R182R|RGS6_uc001xna.3_Silent_p.R182R|RGS6_uc001xmx.3_Silent_p.R182R|RGS6_uc010tto.1_Non-coding_Transcript|RGS6_uc001xmy.3_Silent_p.R182R|RGS6_uc001xmz.1_Silent_p.R43R|RGS6_uc010arg.2_Non-coding_Transcript	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	182					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)	2				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		Ovarian(143;1926 2468 21071 48641)								0.094017	7.837559	27.213496	11	106	KEEP	---	---	---	---	capture		Silent	SNP	72939587	72939587	13783	14	C	A	A	A	295	23	RGS6	1	1
ACOT6	641372	broad.mit.edu	37	14	74086211	74086211	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74086211G>C	uc001xop.2	+	c.292G>C	c.(292-294)GAA>CAA	p.E98Q		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	98						cytosol	carboxylesterase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00331)										0.15	26.145686	35.540917	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74086211	74086211	155	14	G	C	C	C	533	41	ACOT6	3	3
KCNK13	56659	broad.mit.edu	37	14	90650807	90650807	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90650807C>A	uc001xye.1	+	c.687C>A	c.(685-687)TAC>TAA	p.Y229*		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	229						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		all_cancers(154;0.186)												0.125	9.118528	19.028258	9	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90650807	90650807	8366	14	C	A	A	A	259	20	KCNK13	5	2
C14orf49	161176	broad.mit.edu	37	14	95912351	95912351	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95912351G>T	uc001yei.3	-	c.1527C>A	c.(1525-1527)ATC>ATA	p.I509I	C14orf49_uc010avi.2_Silent_p.I509I|C14orf49_uc001yej.1_Silent_p.I509I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	509	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)										0.274725	55.251995	59.482597	25	66	KEEP	---	---	---	---	capture		Silent	SNP	95912351	95912351	1826	14	G	T	T	T	421	33	C14orf49	2	2
C15orf2	23742	broad.mit.edu	37	15	24921212	24921212	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921212C>A	uc001ywo.2	+	c.198C>A	c.(196-198)GTC>GTA	p.V66V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	66					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.357143	28.663048	29.157196	10	18	KEEP	---	---	---	---	capture		Silent	SNP	24921212	24921212	1834	15	C	A	A	A	392	31	C15orf2	1	1
C15orf2	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24923342C>A	uc001ywo.2	+	c.2328C>A	c.(2326-2328)GCC>GCA	p.A776A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	776					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.277778	93.644147	100.043887	40	104	KEEP	---	---	---	---	capture		Silent	SNP	24923342	24923342	1834	15	C	A	A	A	275	22	C15orf2	2	2
C15orf2	23742	broad.mit.edu	37	15	24924327	24924327	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24924327G>A	uc001ywo.2	+	c.3313G>A	c.(3313-3315)GAT>AAT	p.D1105N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	1105					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.368932	108.804215	110.365901	38	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24924327	24924327	1834	15	G	A	A	A	533	41	C15orf2	2	2
RYR3	6263	broad.mit.edu	37	15	33916196	33916196	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33916196T>C	uc001zhi.2	+	c.2546T>C	c.(2545-2547)TTC>TCC	p.F849S	RYR3_uc010bar.2_Missense_Mutation_p.F849S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	849	4 X approximate repeats.|1.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.421569	145.009474	145.556694	43	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33916196	33916196	14250	15	T	C	C	C	806	62	RYR3	4	4
RYR3	6263	broad.mit.edu	37	15	33925287	33925287	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33925287G>A	uc001zhi.2	+	c.3005G>A	c.(3004-3006)GGA>GAA	p.G1002E	RYR3_uc010bar.2_Missense_Mutation_p.G1002E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1002	2.|4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.333333	33.099243	33.979261	12	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33925287	33925287	14250	15	G	A	A	A	533	41	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	33991970	33991970	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33991970G>C	uc001zhi.2	+	c.6315G>C	c.(6313-6315)CGG>CGC	p.R2105R	RYR3_uc010bar.2_Silent_p.R2105R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2105	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.347826	24.055988	24.542719	8	15	KEEP	---	---	---	---	capture		Silent	SNP	33991970	33991970	14250	15	G	C	C	C	535	42	RYR3	3	3
RYR3	6263	broad.mit.edu	37	15	34115218	34115218	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34115218G>C	uc001zhi.2	+	c.11017G>C	c.(11017-11019)GAG>CAG	p.E3673Q	RYR3_uc010bar.2_Missense_Mutation_p.E3668Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.428571	63.153858	63.338302	18	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34115218	34115218	14250	15	G	C	C	C	533	41	RYR3	3	3
ACTC1	70	broad.mit.edu	37	15	35083397	35083397	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35083397C>A	uc001ziu.1	-	c.908G>T	c.(907-909)GGA>GTA	p.G303V		NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	303					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			ovary(1)	1		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										0.330709	110.605056	113.831645	42	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35083397	35083397	196	15	C	A	A	A	390	30	ACTC1	2	2
BUB1B	701	broad.mit.edu	37	15	40462321	40462321	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40462321A>T	uc001zkx.3	+	c.238A>T	c.(238-240)AGG>TGG	p.R80W		NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	80	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|protein phosphorylation|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)						298				0.384615	74.555388	75.315336	25	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40462321	40462321	1605	15	A	T	T	T	192	15	BUB1B	3	3
UBR1	197131	broad.mit.edu	37	15	43348568	43348568	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43348568C>A	uc001zqq.2	-	c.1255G>T	c.(1255-1257)GTT>TTT	p.V419F	UBR1_uc010udk.1_Missense_Mutation_p.V419F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	419						cytosol	zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)										0.540541	136.609727	136.716106	40	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43348568	43348568	17459	15	C	A	A	A	260	20	UBR1	2	2
MYEF2	50804	broad.mit.edu	37	15	48441490	48441490	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48441490C>T	uc001zwi.3	-	c.1457G>A	c.(1456-1458)AGA>AAA	p.R486K	MYEF2_uc001zwg.3_Missense_Mutation_p.R24K|MYEF2_uc001zwh.3_Missense_Mutation_p.R74K|MYEF2_uc001zwj.3_Missense_Mutation_p.R462K	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	486	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)										0.353846	70.538609	71.748058	23	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48441490	48441490	10419	15	C	T	T	T	416	32	MYEF2	2	2
SLC12A1	6557	broad.mit.edu	37	15	48566838	48566838	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48566838C>A	uc001zwn.3	+	c.2473C>A	c.(2473-2475)CTT>ATT	p.L825I	SLC12A1_uc010uew.1_Missense_Mutation_p.L631I|SLC12A1_uc001zwq.3_Missense_Mutation_p.L596I|SLC12A1_uc001zwr.3_Missense_Mutation_p.L552I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	825	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.428571	26.770925	26.864539	9	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48566838	48566838	14877	15	C	A	A	A	416	32	SLC12A1	2	2
HDC	3067	broad.mit.edu	37	15	50534961	50534961	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50534961C>T	uc001zxz.2	-	c.1485G>A	c.(1483-1485)AGG>AGA	p.R495R	HDC_uc001zxy.2_Silent_p.R238R|HDC_uc010uff.1_Silent_p.R462R	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	495					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.25	26.630474	28.903279	10	30	KEEP	---	---	---	---	capture		Silent	SNP	50534961	50534961	7298	15	C	T	T	T	285	22	HDC	2	2
UNC13C	440279	broad.mit.edu	37	15	54306940	54306940	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54306940C>G	uc002ack.2	+	c.1840C>G	c.(1840-1842)CAA>GAA	p.Q614E		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	614					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				0.396825	73.545463	74.136014	25	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54306940	54306940	17544	15	C	G	G	G	273	21	UNC13C	3	3
TLN2	83660	broad.mit.edu	37	15	63063229	63063229	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63063229C>G	uc002alb.3	+	c.5263C>G	c.(5263-5265)CTT>GTT	p.L1755V	TLN2_uc002alc.3_Missense_Mutation_p.L148V|TLN2_uc002ald.2_Missense_Mutation_p.L148V	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1755					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.308824	63.876722	66.076861	21	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63063229	63063229	16478	15	C	G	G	G	416	32	TLN2	3	3
IGDCC4	57722	broad.mit.edu	37	15	65682616	65682616	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65682616C>G	uc002aou.1	-	c.2285G>C	c.(2284-2286)AGC>ACC	p.S762T	IGDCC4_uc002aot.1_Missense_Mutation_p.S350T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	762	Fibronectin type-III 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.305556	32.438079	33.637426	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65682616	65682616	7870	15	C	G	G	G	364	28	IGDCC4	3	3
RPL4	6124	broad.mit.edu	37	15	66792653	66792653	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66792653G>T	uc002apv.2	-	c.895C>A	c.(895-897)CAA>AAA	p.Q299K	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Missense_Mutation_p.Q205K|RPL4_uc002apw.2_Missense_Mutation_p.Q205K|RPL4_uc002apx.2_Missense_Mutation_p.Q205K	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	299					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0														0.352113	72.250424	73.62133	25	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66792653	66792653	14074	15	G	T	T	T	611	47	RPL4	2	2
CORO2B	10391	broad.mit.edu	37	15	69011535	69011535	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69011535C>A	uc002arj.3	+	c.1133C>A	c.(1132-1134)GCA>GAA	p.A378E	CORO2B_uc010bic.2_Missense_Mutation_p.A373E|CORO2B_uc002ark.2_Missense_Mutation_p.A145E	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	378					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|large_intestine(1)	4														0.367347	54.039809	54.796751	18	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69011535	69011535	3895	15	C	A	A	A	325	25	CORO2B	2	2
CCDC33	80125	broad.mit.edu	37	15	74623568	74623568	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74623568C>T	uc002axo.2	+	c.1702C>T	c.(1702-1704)CTG>TTG	p.L568L	CCDC33_uc002axp.2_Silent_p.L390L|CCDC33_uc002axq.2_Silent_p.L161L|CCDC33_uc002axr.2_Silent_p.L161L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	771	Potential.						protein binding			ovary(3)	3														0.190476	8.888786	10.76883	4	17	KEEP	---	---	---	---	capture		Silent	SNP	74623568	74623568	2928	15	C	T	T	T	363	28	CCDC33	2	2
LINGO1	84894	broad.mit.edu	37	15	77906791	77906791	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:77906791G>A	uc002bct.1	-	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y	LINGO1_uc002bcu.1_Silent_p.Y480Y	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	486	Extracellular (Potential).|Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2														0.333333	31.616012	32.426827	11	22	KEEP	---	---	---	---	capture		Silent	SNP	77906791	77906791	9141	15	G	A	A	A	516	40	LINGO1	1	1
AEN	64782	broad.mit.edu	37	15	89169735	89169735	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89169735C>T	uc002bmt.2	+	c.295C>T	c.(295-297)CCC>TCC	p.P99S	AEN_uc010bnl.2_Missense_Mutation_p.P99S|AEN_uc010bnm.1_Missense_Mutation_p.P99S	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	interferon stimulated exonuclease gene	99					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding				0														0.585366	75.002432	75.262677	24	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89169735	89169735	352	15	C	T	T	T	390	30	AEN	2	2
POLG	5428	broad.mit.edu	37	15	89866008	89866008	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89866008C>G	uc002bns.3	-	c.2391G>C	c.(2389-2391)ATG>ATC	p.M797I	POLG_uc002bnr.3_Missense_Mutation_p.M797I	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	797					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			Colon(73;648 1203 11348 18386 27782)								0.495192	348.556426	348.559793	103	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89866008	89866008	12628	15	C	G	G	G	377	29	POLG	3	3
NOMO1	23420	broad.mit.edu	37	16	14951512	14951512	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14951512G>T	uc002dcv.2	+	c.1220G>T	c.(1219-1221)GGG>GTG	p.G407V		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	407	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1														0.12844	19.680404	34.337918	14	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14951512	14951512	10934	16	G	T	T	T	559	43	NOMO1	2	2
MYH11	4629	broad.mit.edu	37	16	15808819	15808819	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15808819C>T	uc002ddx.2	-	c.5754G>A	c.(5752-5754)ACG>ACA	p.T1918T	MYH11_uc002ddv.2_Silent_p.T1918T|MYH11_uc002ddw.2_Silent_p.T1911T|MYH11_uc002ddy.2_Silent_p.T1911T|MYH11_uc010bvg.2_Silent_p.T1743T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.T617T	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1911	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.228188	83.987755	94.077009	34	115	KEEP	---	---	---	---	capture		Silent	SNP	15808819	15808819	10426	16	C	T	T	T	288	23	MYH11	1	1
GPRC5B	51704	broad.mit.edu	37	16	19873269	19873269	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19873269C>T	uc010vav.1	-	c.1135G>A	c.(1135-1137)GGC>AGC	p.G379S	GPRC5B_uc002dgt.2_Missense_Mutation_p.G353S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	353	Cytoplasmic (Potential).										0														0.142857	8.273038	12.557152	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19873269	19873269	7001	16	C	T	T	T	299	23	GPRC5B	1	1
UMOD	7369	broad.mit.edu	37	16	20352594	20352594	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20352594G>T	uc002dhb.2	-	c.1495C>A	c.(1495-1497)CCT>ACT	p.P499T	UMOD_uc002dgz.2_Missense_Mutation_p.P466T|UMOD_uc002dha.2_Missense_Mutation_p.P466T	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	466	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.219512	17.950333	20.927668	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20352594	20352594	17537	16	G	T	T	T	559	43	UMOD	2	2
ACSM2A	123876	broad.mit.edu	37	16	20487038	20487038	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20487038G>A	uc010bwe.2	+	c.1041G>A	c.(1039-1041)GAG>GAA	p.E347E	ACSM2A_uc010vax.1_Silent_p.E268E|ACSM2A_uc002dhf.3_Silent_p.E347E|ACSM2A_uc002dhg.3_Silent_p.E347E|ACSM2A_uc010vay.1_Silent_p.E268E|ACSM2A_uc002dhh.3_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	347					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.153374	48.825915	67.51004	25	138	KEEP	---	---	---	---	capture		Silent	SNP	20487038	20487038	184	16	G	A	A	A	425	33	ACSM2A	2	2
ACSM1	116285	broad.mit.edu	37	16	20648142	20648142	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20648142G>T	uc002dhm.1	-	c.1218C>A	c.(1216-1218)AGC>AGA	p.S406R	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.S406R	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	406					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)	1														0.186047	17.074382	21.04668	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20648142	20648142	183	16	G	T	T	T	594	46	ACSM1	2	2
OTOA	146183	broad.mit.edu	37	16	21698943	21698943	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21698943C>G	uc002djh.2	+	c.609C>G	c.(607-609)GAC>GAG	p.D203E	OTOA_uc010vbj.1_Missense_Mutation_p.D124E	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	203					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.173913	7.1046	9.399538	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21698943	21698943	11714	16	C	G	G	G	233	18	OTOA	3	3
ZKSCAN2	342357	broad.mit.edu	37	16	25255428	25255428	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:25255428C>A	uc002dod.3	-	c.1659G>T	c.(1657-1659)AAG>AAT	p.K553N	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K349N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	553					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)										0.170455	28.824345	37.950687	15	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25255428	25255428	18278	16	C	A	A	A	259	20	ZKSCAN2	2	2
GTF3C1	2975	broad.mit.edu	37	16	27512582	27512582	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27512582C>A	uc002dov.1	-	c.1991G>T	c.(1990-1992)CGG>CTG	p.R664L	GTF3C1_uc002dou.2_Missense_Mutation_p.R664L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	664					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.128571	12.529736	21.935376	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27512582	27512582	7152	16	C	A	A	A	299	23	GTF3C1	1	1
SBK1	388228	broad.mit.edu	37	16	28330425	28330425	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28330425G>T	uc002dpd.2	+	c.336G>T	c.(334-336)AAG>AAT	p.K112N		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	112	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2										82				0.16	23.152439	31.407565	12	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28330425	28330425	14341	16	G	T	T	T	451	35	SBK1	2	2
SBK1	388228	broad.mit.edu	37	16	28331561	28331561	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28331561G>T	uc002dpd.2	+	c.594G>T	c.(592-594)ACG>ACT	p.T198T		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	198	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2										82				0.3	8.5229	8.87925	3	7	KEEP	---	---	---	---	capture		Silent	SNP	28331561	28331561	14341	16	G	T	T	T	483	38	SBK1	1	1
SETD1A	9739	broad.mit.edu	37	16	30977436	30977436	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30977436G>T	uc002ead.1	+	c.2234G>T	c.(2233-2235)CGG>CTG	p.R745L		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.229508	30.505864	34.613763	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30977436	30977436	14618	16	G	T	T	T	507	39	SETD1A	1	1
ZNF267	10308	broad.mit.edu	37	16	31927483	31927483	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31927483G>T	uc002ecs.3	+	c.1913G>T	c.(1912-1914)GGC>GTC	p.G638V		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	638	C2H2-type 12.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.126984	10.677284	19.21	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31927483	31927483	18398	16	G	T	T	T	546	42	ZNF267	2	2
ABCC12	94160	broad.mit.edu	37	16	48117862	48117862	+	Silent	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48117862T>A	uc002efc.1	-	c.3951A>T	c.(3949-3951)ACA>ACT	p.T1317T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	1317	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2		all_cancers(37;0.0474)|all_lung(18;0.047)												0.15	22.146899	31.543348	12	68	KEEP	---	---	---	---	capture		Silent	SNP	48117862	48117862	53	16	T	A	A	A	704	55	ABCC12	3	3
ABCC11	85320	broad.mit.edu	37	16	48256510	48256510	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48256510T>A	uc002eff.1	-	c.776A>T	c.(775-777)GAG>GTG	p.E259V	ABCC11_uc002efg.1_Missense_Mutation_p.E259V|ABCC11_uc002efh.1_Missense_Mutation_p.E259V|ABCC11_uc010vgl.1_Missense_Mutation_p.E259V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	259	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.137931	5.879954	9.557889	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48256510	48256510	52	16	T	A	A	A	702	54	ABCC11	3	3
UBN1	29855	broad.mit.edu	37	16	4924548	4924548	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4924548G>A	uc002cyb.2	+	c.2137G>A	c.(2137-2139)GAA>AAA	p.E713K	UBN1_uc010uxw.1_Missense_Mutation_p.E713K|UBN1_uc002cyc.2_Missense_Mutation_p.E713K	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	713					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.223958	112.299669	125.6929	43	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4924548	4924548	17450	16	G	A	A	A	429	33	UBN1	2	2
GNAO1	2775	broad.mit.edu	37	16	56374811	56374811	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56374811G>T	uc002eit.3	+	c.789G>T	c.(787-789)ACG>ACT	p.T263T	GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	263					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity				0		all_neural(199;0.159)												0.194245	128.575288	152.761388	54	224	KEEP	---	---	---	---	capture		Silent	SNP	56374811	56374811	6777	16	G	T	T	T	509	40	GNAO1	1	1
CCDC113	29070	broad.mit.edu	37	16	58293790	58293790	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58293790T>A	uc002ene.2	+	c.579T>A	c.(577-579)AAT>AAA	p.N193K	CCDC113_uc010vid.1_Missense_Mutation_p.N139K	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	193	Potential.					protein complex					0														0.135593	15.163499	22.749666	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58293790	58293790	2870	16	T	A	A	A	660	51	CCDC113	3	3
CDH8	1006	broad.mit.edu	37	16	61854978	61854978	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61854978C>A	uc002eog.1	-	c.875G>T	c.(874-876)GGC>GTC	p.G292V	CDH8_uc002eoh.2_Missense_Mutation_p.G61V	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	292	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)										0.210526	18.650319	21.544623	8	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61854978	61854978	3245	16	C	A	A	A	338	26	CDH8	2	2
CDH11	1009	broad.mit.edu	37	16	64984775	64984775	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:64984775C>T	uc002eoi.2	-	c.1789G>A	c.(1789-1791)GTG>ATG	p.V597M	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_Missense_Mutation_p.V597M|CDH11_uc010vin.1_Missense_Mutation_p.V471M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	597	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.166667	8.950688	12.730182	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64984775	64984775	3226	16	C	T	T	T	247	19	CDH11	1	1
CTCF	10664	broad.mit.edu	37	16	67670753	67670753	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67670753G>T	uc002etl.2	+	c.1998G>T	c.(1996-1998)CAG>CAT	p.Q666H	CTCF_uc010cek.2_Missense_Mutation_p.Q338H|CTCF_uc002etm.1_Missense_Mutation_p.Q155H	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	666					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		Colon(175;1200 1966 6945 23069 27405)								0.181034	39.304394	50.401521	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67670753	67670753	4159	16	G	T	T	T	438	34	CTCF	2	2
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67899124G>C	uc002eup.2	+	c.91G>C	c.(91-93)GCA>CCA	p.A31P	NUTF2_uc010vkf.1_Missense_Mutation_p.A31P	NM_005796	NP_005787	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)										0.230769	26.267954	28.848911	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67899124	67899124	11184	16	G	C	C	C	494	38	NUTF2	3	3
PSKH1	5681	broad.mit.edu	37	16	67943486	67943486	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67943486G>T	uc002euv.2	+	c.834G>T	c.(832-834)GTG>GTT	p.V278V	PSKH1_uc010cet.2_Silent_p.V278V	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	278	Protein kinase.				protein phosphorylation	endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)						27				0.148148	6.780868	9.991519	4	23	KEEP	---	---	---	---	capture		Silent	SNP	67943486	67943486	13117	16	G	T	T	T	600	47	PSKH1	2	2
TMCO7	79613	broad.mit.edu	37	16	68961558	68961558	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68961558G>A	uc002ewi.3	+	c.2215G>A	c.(2215-2217)GAA>AAA	p.E739K		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	739						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)										0.168675	27.940861	36.538876	14	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68961558	68961558	16531	16	G	A	A	A	429	33	TMCO7	2	2
VPS4A	27183	broad.mit.edu	37	16	69350147	69350147	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69350147G>T	uc002eww.2	+	c.153G>T	c.(151-153)AAG>AAT	p.K51N		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	51	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)												0.136364	8.855403	14.45981	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69350147	69350147	17779	16	G	T	T	T	451	35	VPS4A	2	2
PDPR	55066	broad.mit.edu	37	16	70154580	70154580	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70154580C>G	uc002eyf.1	+	c.185C>G	c.(184-186)TCC>TGC	p.S62C	CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Intron	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.124)										0.295455	38.357918	40.004591	13	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70154580	70154580	12110	16	C	G	G	G	390	30	PDPR	3	3
ST3GAL2	6483	broad.mit.edu	37	16	70415690	70415690	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70415690C>G	uc002eyw.2	-	c.955G>C	c.(955-957)GAG>CAG	p.E319Q	ST3GAL2_uc002eyx.2_Missense_Mutation_p.E319Q	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	319	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)												0.106383	6.557697	13.772257	5	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70415690	70415690	15733	16	C	G	G	G	403	31	ST3GAL2	3	3
HYDIN	54768	broad.mit.edu	37	16	70902577	70902577	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70902577G>T	uc002ezr.2	-	c.11203C>A	c.(11203-11205)CAG>AAG	p.Q3735K	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3736										ovary(1)	1		Ovarian(137;0.0654)												0.133333	5.784023	9.694814	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70902577	70902577	7767	16	G	T	T	T	585	45	HYDIN	2	2
HYDIN	54768	broad.mit.edu	37	16	70926292	70926292	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70926292A>T	uc002ezr.2	-	c.9386T>A	c.(9385-9387)ATT>AAT	p.I3129N		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3130										ovary(1)	1		Ovarian(137;0.0654)												0.075949	-1.186813	13.350574	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70926292	70926292	7767	16	A	T	T	T	52	4	HYDIN	3	3
WDR59	79726	broad.mit.edu	37	16	74951836	74951836	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:74951836C>G	uc002fdh.1	-	c.957G>C	c.(955-957)CAG>CAC	p.Q319H	WDR59_uc002fdi.2_Missense_Mutation_p.Q319H|WDR59_uc002fdj.2_Missense_Mutation_p.Q319H|WDR59_uc002fdg.1_5'Flank	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	319	WD 7.									ovary(1)|breast(1)	2														0.142857	17.839711	25.576538	9	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74951836	74951836	17881	16	C	G	G	G	415	32	WDR59	3	3
BCAR1	9564	broad.mit.edu	37	16	75268814	75268814	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75268814C>A	uc010vnb.1	-	c.2121G>T	c.(2119-2121)ATG>ATT	p.M707I	BCAR1_uc002fdt.2_Missense_Mutation_p.M114I|BCAR1_uc002fdu.2_Missense_Mutation_p.M451I|BCAR1_uc010cgu.2_Missense_Mutation_p.M650I|BCAR1_uc010vna.1_Missense_Mutation_p.M659I|BCAR1_uc002fdv.2_Missense_Mutation_p.M661I|BCAR1_uc002fdw.2_Missense_Mutation_p.M661I|BCAR1_uc010vnc.1_Missense_Mutation_p.M513I|BCAR1_uc010vnd.1_Missense_Mutation_p.M679I|BCAR1_uc002fdx.2_Missense_Mutation_p.M679I	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	661					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(221;0.169)						221				0.142857	7.153084	11.454725	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75268814	75268814	1369	16	C	A	A	A	273	21	BCAR1	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76389295	76389295	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76389295G>T	uc002fex.1	+	c.286G>T	c.(286-288)GCT>TCT	p.A96S	CNTNAP4_uc002feu.1_Missense_Mutation_p.A93S|CNTNAP4_uc002fev.1_Missense_Mutation_p.A5S|CNTNAP4_uc010chb.1_Missense_Mutation_p.A68S|CNTNAP4_uc002few.2_Missense_Mutation_p.A68S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	93	Extracellular (Potential).|F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.A68T(1)		ovary(1)|pancreas(1)	2														0.113636	5.356867	11.825646	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76389295	76389295	3787	16	G	T	T	T	494	38	CNTNAP4	1	1
CLEC3A	10143	broad.mit.edu	37	16	78056549	78056549	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:78056549G>T	uc002ffh.3	+	c.26G>T	c.(25-27)TGC>TTC	p.C9F		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	9					skeletal system development	extracellular region	sugar binding				0														0.15625	9.562002	13.165195	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78056549	78056549	3648	16	G	T	T	T	598	46	CLEC3A	2	2
PLCG2	5336	broad.mit.edu	37	16	81960739	81960739	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81960739G>A	uc002fgt.2	+	c.2470G>A	c.(2470-2472)GTC>ATC	p.V824I		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	824	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8									p.V824F(NCIH441-Tumor)	1880				0.211864	54.873388	63.887356	25	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81960739	81960739	12462	16	G	A	A	A	520	40	PLCG2	1	1
HSD17B2	3294	broad.mit.edu	37	16	82131939	82131939	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82131939G>T	uc002fgv.2	+	c.1062G>T	c.(1060-1062)TTG>TTT	p.L354F		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	354					oxidation-reduction process|response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)									0.162791	24.143476	33.410772	14	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82131939	82131939	7679	16	G	T	T	T	594	46	HSD17B2	2	2
MPHOSPH6	10200	broad.mit.edu	37	16	82197792	82197792	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:82197792T>G	uc002fgw.2	-	c.59A>C	c.(58-60)CAA>CCA	p.Q20P		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	20					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0														0.153846	14.164832	20.125711	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82197792	82197792	10118	16	T	G	G	G	819	63	MPHOSPH6	4	4
MSLNL	401827	broad.mit.edu	37	16	822938	822938	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:822938C>T	uc002cjz.1	-	c.2247G>A	c.(2245-2247)ACG>ACA	p.T749T		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	398	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.216216	17.245249	20.040831	8	29	KEEP	---	---	---	---	capture		Silent	SNP	822938	822938	10275	16	C	T	T	T	288	23	MSLNL	1	1
LRRC50	123872	broad.mit.edu	37	16	84203839	84203839	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84203839C>T	uc002fhl.3	+	c.1405C>T	c.(1405-1407)CCA>TCA	p.P469S	LRRC50_uc010vnw.1_Missense_Mutation_p.P233S	NM_178452	NP_848547	Q8NEP3	LRC50_HUMAN	leucine rich repeat containing 50	469	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			ovary(4)|pancreas(1)	5														0.15	12.268679	16.928775	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84203839	84203839	9384	16	C	T	T	T	286	22	LRRC50	2	2
KCNG4	93107	broad.mit.edu	37	16	84256462	84256462	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84256462G>T	uc010voc.1	-	c.921C>A	c.(919-921)TAC>TAA	p.Y307*		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	307	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3														0.210526	9.990468	11.462524	4	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	84256462	84256462	8335	16	G	T	T	T	516	40	KCNG4	5	1
KLHL36	79786	broad.mit.edu	37	16	84690773	84690773	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84690773G>T	uc002fig.2	+	c.360G>T	c.(358-360)CTG>CTT	p.L120L	KLHL36_uc010chl.2_Silent_p.L119L	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	120											0														0.272727	30.700965	32.737301	12	32	KEEP	---	---	---	---	capture		Silent	SNP	84690773	84690773	8703	16	G	T	T	T	600	47	KLHL36	2	2
COX4I1	1327	broad.mit.edu	37	16	85838628	85838628	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:85838628G>C	uc002fje.2	+	c.159G>C	c.(157-159)AAG>AAC	p.K53N	COX4I1_uc002fjf.2_Missense_Mutation_p.K53N|COX4I1_uc002fjg.1_Missense_Mutation_p.K53N|COX4I1_uc010vom.1_5'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	53					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)												0.233333	19.130487	21.068634	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85838628	85838628	3907	16	G	C	C	C	438	34	COX4I1	3	3
GRIN2A	2903	broad.mit.edu	37	16	9934799	9934799	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9934799G>T	uc002czo.3	-	c.1491C>A	c.(1489-1491)ATC>ATA	p.I497I	GRIN2A_uc010uym.1_Silent_p.I497I|GRIN2A_uc010uyn.1_Silent_p.I340I|GRIN2A_uc002czr.3_Silent_p.I497I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	497	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)				p.I497I(RKO-Tumor)|p.I497I(SNU1040-Tumor)	324				0.192771	38.830166	46.085114	16	67	KEEP	---	---	---	---	capture		Silent	SNP	9934799	9934799	7058	16	G	T	T	T	473	37	GRIN2A	1	1
GRIN2A	2903	broad.mit.edu	37	16	9943652	9943652	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9943652A>G	uc002czo.3	-	c.1289T>C	c.(1288-1290)GTG>GCG	p.V430A	GRIN2A_uc010uym.1_Missense_Mutation_p.V430A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V273A|GRIN2A_uc002czr.3_Missense_Mutation_p.V430A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	430	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.111111	3.282905	14.258769	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9943652	9943652	7058	16	A	G	G	G	78	6	GRIN2A	4	4
GRIN2A	2903	broad.mit.edu	37	16	9984903	9984903	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9984903G>T	uc002czo.3	-	c.1062C>A	c.(1060-1062)GGC>GGA	p.G354G	GRIN2A_uc010uym.1_Silent_p.G354G|GRIN2A_uc010uyn.1_Silent_p.G197G|GRIN2A_uc002czr.3_Silent_p.G354G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	354	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.128571	12.186123	21.543786	9	61	KEEP	---	---	---	---	capture		Silent	SNP	9984903	9984903	7058	16	G	T	T	T	431	34	GRIN2A	2	2
MYH2	4620	broad.mit.edu	37	17	10435163	10435163	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10435163C>A	uc010coi.2	-	c.2484G>T	c.(2482-2484)ATG>ATT	p.M828I	MYH2_uc002gmp.3_Missense_Mutation_p.M828I|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	828					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.246154	37.811388	41.684952	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10435163	10435163	10430	17	C	A	A	A	377	29	MYH2	2	2
HS3ST3A1	9955	broad.mit.edu	37	17	13399541	13399541	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:13399541G>T	uc002gob.1	-	c.1194C>A	c.(1192-1194)ACC>ACA	p.T398T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	398	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.206897	14.741558	17.044721	6	23	KEEP	---	---	---	---	capture		Silent	SNP	13399541	13399541	7659	17	G	T	T	T	496	39	HS3ST3A1	1	1
NOS2	4843	broad.mit.edu	37	17	26092683	26092683	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26092683G>T	uc002gzu.2	-	c.2306C>A	c.(2305-2307)CCG>CAG	p.P769Q		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	769	FAD (By similarity).|FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.216216	20.083566	22.829643	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26092683	26092683	10946	17	G	T	T	T	507	39	NOS2	1	1
ALDOC	230	broad.mit.edu	37	17	26902193	26902193	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26902193C>A	uc002hbp.2	-	c.272G>T	c.(271-273)GGT>GTT	p.G91V	ALDOC_uc010cro.2_Missense_Mutation_p.G91V	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	91					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytoskeleton|cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.264706	21.963968	23.668662	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26902193	26902193	512	17	C	A	A	A	234	18	ALDOC	2	2
SGK494	124923	broad.mit.edu	37	17	26938634	26938634	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26938634C>A	uc002hbr.1	-	c.762G>T	c.(760-762)GTG>GTT	p.V254V	SGK494_uc010waq.1_Intron|SGK494_uc010war.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0										78				0.254386	68.829801	75.077948	29	85	KEEP	---	---	---	---	capture		Silent	SNP	26938634	26938634	14704	17	C	A	A	A	314	25	SGK494	2	2
PHF12	57649	broad.mit.edu	37	17	27233534	27233534	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27233534C>A	uc002hdg.1	-	c.2682G>T	c.(2680-2682)AGG>AGT	p.R894S	PHF12_uc010wbb.1_Missense_Mutation_p.R876S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	894	Poly-Arg.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|transcription repressor activity|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)											0.130435	4.00961	7.065191	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27233534	27233534	12246	17	C	A	A	A	337	26	PHF12	2	2
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30986161C>T	uc002hho.1	-	c.2317G>A	c.(2317-2319)GAG>AAG	p.E773K	MYO1D_uc002hhp.1_Missense_Mutation_p.E773K	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	773						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)									OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.16129	18.907994	25.67897	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30986161	30986161	10466	17	C	T	T	T	377	29	MYO1D	2	2
ACCN1	40	broad.mit.edu	37	17	31344625	31344625	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31344625C>A	uc002hht.2	-	c.1519G>T	c.(1519-1521)GAG>TAG	p.E507*	ACCN1_uc002hhu.2_Nonsense_Mutation_p.E456*	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	456	Cytoplasmic (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)									0.107143	3.305706	7.592155	3	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31344625	31344625	129	17	C	A	A	A	377	29	ACCN1	5	2
TMEM132E	124842	broad.mit.edu	37	17	32954040	32954040	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32954040C>G	uc002hif.2	+	c.692C>G	c.(691-693)TCG>TGG	p.S231W		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	231	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.137255	12.793775	19.284075	7	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32954040	32954040	16580	17	C	G	G	G	403	31	TMEM132E	3	3
TMEM132E	124842	broad.mit.edu	37	17	32956090	32956090	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32956090G>T	uc002hif.2	+	c.935G>T	c.(934-936)AGC>ATC	p.S312I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	312	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.17284	25.997883	34.190616	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32956090	32956090	16580	17	G	T	T	T	442	34	TMEM132E	2	2
TAF15	8148	broad.mit.edu	37	17	34171871	34171871	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34171871G>T	uc002hkd.2	+	c.1568G>T	c.(1567-1569)GGA>GTA	p.G523V	TAF15_uc002hkc.2_Missense_Mutation_p.G520V	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	523	Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.					cytoplasm|nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|skin(1)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)						696				0.185185	8.990965	11.476997	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34171871	34171871	16039	17	G	T	T	T	533	41	TAF15	2	2
TRPV1	7442	broad.mit.edu	37	17	3474934	3474934	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3474934C>A	uc010vro.1	-	c.2265_splice	c.e15-1	p.R755_splice	TRPV1_uc010vrp.1_Splice_Site_SNP_p.R684_splice|TRPV1_uc010vrq.1_Splice_Site_SNP_p.R742_splice|TRPV1_uc010vrr.1_Splice_Site_SNP_p.R744_splice|TRPV1_uc010vrs.1_Splice_Site_SNP_p.R744_splice|TRPV1_uc010vrt.1_Splice_Site_SNP_p.R744_splice|TRPV1_uc010vru.1_Splice_Site_SNP_p.R744_splice	NM_080706	NP_542437			transient receptor potential cation channel,						cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	Melanoma(38;962 1762 15789)								0.333333	10.59372	10.890069	4	8	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	3474934	3474934	17146	17	C	A	A	A	312	24	TRPV1	5	2
TRPV1	7442	broad.mit.edu	37	17	3477168	3477168	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3477168C>A	uc010vro.1	-	c.1895G>T	c.(1894-1896)TGC>TTC	p.C632F	TRPV1_uc010vrp.1_Missense_Mutation_p.C561F|TRPV1_uc010vrq.1_Missense_Mutation_p.C619F|TRPV1_uc010vrr.1_Missense_Mutation_p.C621F|TRPV1_uc010vrs.1_Missense_Mutation_p.C621F|TRPV1_uc010vrt.1_Missense_Mutation_p.C621F|TRPV1_uc010vru.1_Missense_Mutation_p.C621F	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	621					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	Melanoma(38;962 1762 15789)								0.416667	14.97312	15.045793	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3477168	3477168	17146	17	C	A	A	A	325	25	TRPV1	2	2
P2RX5	5026	broad.mit.edu	37	17	3593445	3593445	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3593445C>A	uc002fwh.1	-	c.534_splice	c.e6-1	p.E178_splice	P2RX5_uc002fwd.2_Splice_Site_SNP|P2RX5_uc010vrx.1_Splice_Site_SNP_p.E118_splice|P2RX5_uc002fwi.2_Splice_Site_SNP_p.E178_splice|P2RX5_uc002fwj.2_Splice_Site_SNP_p.E154_splice|P2RX5_uc002fwk.2_Splice_Site_SNP_p.E178_splice|P2RX5_uc002fwl.2_Splice_Site_SNP_p.E154_splice	NM_002561	NP_002552			purinergic receptor P2X5 isoform A						nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0														0.268519	69.63493	74.856524	29	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	3593445	3593445	11756	17	C	A	A	A	312	24	P2RX5	5	2
MLLT6	4302	broad.mit.edu	37	17	36861986	36861986	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36861986T>A	uc002hqi.3	+	c.101T>A	c.(100-102)GTC>GAC	p.V34D	MLLT6_uc010wdr.1_Missense_Mutation_p.V34D|MLLT6_uc010cvm.1_Missense_Mutation_p.V34D	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	34	PHD-type 1.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			skin(1)	1	Breast(7;4.43e-21)									439				0.2	12.203128	15.138097	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36861986	36861986	10020	17	T	A	A	A	754	58	MLLT6	3	3
CDK12	51755	broad.mit.edu	37	17	37676281	37676281	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37676281A>G	uc010cvv.2	+	c.3036A>G	c.(3034-3036)GAA>GAG	p.E1012E	CDK12_uc010wef.1_Silent_p.E1011E|CDK12_uc002hrw.3_Silent_p.E1012E	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1012	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity|RNA polymerase II transcription factor activity	p.T1014_Q1016del(1)		ovary(8)|lung(2)|large_intestine(1)	11										277	TCGA Ovarian(9;0.13)			0.166667	35.543764	45.654435	16	80	KEEP	---	---	---	---	capture		Silent	SNP	37676281	37676281	3257	17	A	G	G	G	24	2	CDK12	4	4
KRT25	147183	broad.mit.edu	37	17	38910703	38910703	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38910703G>A	uc002hve.2	-	c.447C>T	c.(445-447)ACC>ACT	p.T149T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	149	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)												0.122807	10.58254	18.521084	7	50	KEEP	---	---	---	---	capture		Silent	SNP	38910703	38910703	8777	17	G	A	A	A	600	47	KRT25	2	2
KRTAP4-4	84616	broad.mit.edu	37	17	39316515	39316515	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39316515G>T	uc002hwc.2	-	c.429C>A	c.(427-429)ACC>ACA	p.T143T		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	143	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].|24.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.234043	26.107787	29.145415	11	36	KEEP	---	---	---	---	capture		Silent	SNP	39316515	39316515	8875	17	G	T	T	T	600	47	KRTAP4-4	2	2
KRTAP9-8	83901	broad.mit.edu	37	17	39394396	39394396	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39394396C>T	uc002hwh.3	+	c.93C>T	c.(91-93)CCC>CCT	p.P31P	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	31	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.130435	15.42968	24.593384	9	60	KEEP	---	---	---	---	capture		Silent	SNP	39394396	39394396	8899	17	C	T	T	T	301	24	KRTAP9-8	2	2
KRT33B	3884	broad.mit.edu	37	17	39521116	39521116	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39521116C>A	uc002hwl.2	-	c.1012G>T	c.(1012-1014)GAG>TAG	p.E338*		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	338	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.112676	5.24154	15.780688	8	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39521116	39521116	8785	17	C	A	A	A	390	30	KRT33B	5	2
KRT34	3885	broad.mit.edu	37	17	39535402	39535402	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39535402C>T	uc002hwm.2	-	c.1029G>A	c.(1027-1029)ACG>ACA	p.T343T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	343	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)												0.086957	0.672788	8.614276	4	42	KEEP	---	---	---	---	capture		Silent	SNP	39535402	39535402	8786	17	C	T	T	T	288	23	KRT34	1	1
AOC3	8639	broad.mit.edu	37	17	41004452	41004452	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41004452C>A	uc002ibv.2	+	c.1092C>A	c.(1090-1092)AGC>AGA	p.S364R		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	364	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response|oxidation-reduction process	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)	3		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	NSCLC(3;192 220 10664 11501 16477)								0.181818	23.012298	29.256463	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41004452	41004452	738	17	C	A	A	A	337	26	AOC3	2	2
NBR1	4077	broad.mit.edu	37	17	41352478	41352478	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41352478A>T	uc010czd.2	+	c.2321A>T	c.(2320-2322)CAG>CTG	p.Q774L	NBR1_uc010diz.2_Missense_Mutation_p.Q774L|NBR1_uc010whu.1_Missense_Mutation_p.Q774L|NBR1_uc010whv.1_Missense_Mutation_p.Q774L|NBR1_uc010whw.1_Missense_Mutation_p.Q753L	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	774					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)										0.277778	13.778977	14.571705	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41352478	41352478	10599	17	A	T	T	T	91	7	NBR1	3	3
GFAP	2670	broad.mit.edu	37	17	42992785	42992785	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42992785C>A	uc002ihq.2	-	c.70G>T	c.(70-72)GGC>TGC	p.G24C	GFAP_uc002ihr.2_Missense_Mutation_p.G24C|GFAP_uc010wjg.1_Non-coding_Transcript	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	24	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)												0.285714	7.483057	8.068542	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42992785	42992785	6605	17	C	A	A	A	286	22	GFAP	2	2
FMNL1	752	broad.mit.edu	37	17	43313572	43313572	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43313572C>T	uc002iin.2	+	c.684C>T	c.(682-684)CAC>CAT	p.H228H		NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	228	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GBM(164;1247 1997 8702 11086 51972)						OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.185185	11.462563	13.968531	5	22	KEEP	---	---	---	---	capture		Silent	SNP	43313572	43313572	6193	17	C	T	T	T	246	19	FMNL1	1	1
C17orf46	124783	broad.mit.edu	37	17	43333141	43333141	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43333141G>A	uc002iis.1	-	c.408C>T	c.(406-408)TTC>TTT	p.F136F	LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Silent_p.F115F	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	hypothetical protein LOC124783	136										large_intestine(1)|ovary(1)	2														0.186047	30.153922	38.103667	16	70	KEEP	---	---	---	---	capture		Silent	SNP	43333141	43333141	1913	17	G	A	A	A	581	45	C17orf46	2	2
KIAA1267	284058	broad.mit.edu	37	17	44110791	44110791	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44110791C>A	uc002ikb.2	-	c.2702G>T	c.(2701-2703)AGT>ATT	p.S901I	KIAA1267_uc002ikc.2_Missense_Mutation_p.S901I|KIAA1267_uc002ikd.2_Missense_Mutation_p.S901I|KIAA1267_uc010dav.2_Missense_Mutation_p.S900I|KIAA1267_uc010wkb.1_Missense_Mutation_p.S232I|KIAA1267_uc010wkc.1_Missense_Mutation_p.S169I	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	901						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.191489	19.27381	23.43436	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44110791	44110791	8528	17	C	A	A	A	260	20	KIAA1267	2	2
HOXB1	3211	broad.mit.edu	37	17	46607968	46607968	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46607968G>T	uc002ink.1	-	c.299C>A	c.(298-300)CCT>CAT	p.P100H		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	100						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.116883	6.712946	17.853387	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46607968	46607968	7591	17	G	T	T	T	455	35	HOXB1	2	2
ABI3	51225	broad.mit.edu	37	17	47299960	47299960	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47299960C>A	uc002iop.1	+	c.984C>A	c.(982-984)TCC>TCA	p.S328S	ABI3_uc002ioq.1_Silent_p.S322S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	NESH protein isoform 1	328	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)											0.222222	18.206426	20.744095	8	28	KEEP	---	---	---	---	capture		Silent	SNP	47299960	47299960	91	17	C	A	A	A	301	24	ABI3	2	2
ZNF652	22834	broad.mit.edu	37	17	47376118	47376118	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47376118C>A	uc002iov.3	-	c.1478G>T	c.(1477-1479)CGG>CTG	p.R493L	ZNF652_uc002iow.2_Missense_Mutation_p.R493L|ZNF652_uc002iou.3_Non-coding_Transcript	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)											0.28125	25.273743	26.642388	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47376118	47376118	18660	17	C	A	A	A	299	23	ZNF652	1	1
SLC35B1	10237	broad.mit.edu	37	17	47781515	47781515	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47781515G>A	uc002iph.1	-	c.602C>T	c.(601-603)TCC>TTC	p.S201F	SLC35B1_uc002ipi.1_Missense_Mutation_p.S134F|SLC35B1_uc002ipj.1_Missense_Mutation_p.S77F|SLC35B1_uc010wly.1_Missense_Mutation_p.S201F	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	201						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0														0.211538	26.800387	30.798106	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47781515	47781515	15072	17	G	A	A	A	533	41	SLC35B1	2	2
PFN1	5216	broad.mit.edu	37	17	4851651	4851651	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4851651C>A	uc002gaa.2	-	c.39G>T	c.(37-39)GCG>GCT	p.A13A	PFN1_uc002fzz.2_5'Flank|ENO3_uc010vsr.1_5'Flank|ENO3_uc002gab.3_5'Flank|ENO3_uc002gac.3_5'Flank|ENO3_uc010vss.1_5'Flank	NM_005022	NP_005013	P07737	PROF1_HUMAN	profilin 1	13					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding				0														0.388889	21.722971	21.916931	7	11	KEEP	---	---	---	---	capture		Silent	SNP	4851651	4851651	12189	17	C	A	A	A	288	23	PFN1	1	1
ENO3	2027	broad.mit.edu	37	17	4856631	4856631	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4856631A>G	uc002gab.3	+	c.305A>G	c.(304-306)AAT>AGT	p.N102S	ENO3_uc010vsr.1_Missense_Mutation_p.N9S|ENO3_uc002gac.3_Missense_Mutation_p.N102S|ENO3_uc010vss.1_Intron|ENO3_uc010vst.1_5'Flank	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	102					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1														0.310345	52.258	54.100484	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4856631	4856631	5316	17	A	G	G	G	52	4	ENO3	4	4
CA10	56934	broad.mit.edu	37	17	50008472	50008472	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:50008472C>T	uc002itv.3	-	c.175G>A	c.(175-177)GTG>ATG	p.V59M	CA10_uc002itw.3_Missense_Mutation_p.V53M|CA10_uc002itx.3_Missense_Mutation_p.V53M|CA10_uc002ity.3_Missense_Mutation_p.V53M|CA10_uc002itz.2_Missense_Mutation_p.V53M	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	53					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.152174	24.8958	35.546183	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50008472	50008472	2627	17	C	T	T	T	234	18	CA10	2	2
KIF2B	84643	broad.mit.edu	37	17	51900641	51900641	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900641C>A	uc002iua.2	+	c.247C>A	c.(247-249)CTG>ATG	p.L83M		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	83					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.2	51.158195	62.070406	26	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900641	51900641	8609	17	C	A	A	A	415	32	KIF2B	2	2
KIF2B	84643	broad.mit.edu	37	17	51900752	51900752	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900752C>A	uc002iua.2	+	c.358C>A	c.(358-360)CCC>ACC	p.P120T		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	120					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.193548	23.181783	28.612544	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900752	51900752	8609	17	C	A	A	A	286	22	KIF2B	2	2
KIF2B	84643	broad.mit.edu	37	17	51902345	51902345	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51902345G>T	uc002iua.2	+	c.1951G>T	c.(1951-1953)GCT>TCT	p.A651S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	651	Potential.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.176471	12.933539	16.283819	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51902345	51902345	8609	17	G	T	T	T	598	46	KIF2B	2	2
EPX	8288	broad.mit.edu	37	17	56271329	56271329	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56271329G>T	uc002ivq.2	+	c.470G>T	c.(469-471)AGA>ATA	p.R157I		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	157					hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.179487	10.615524	14.394093	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56271329	56271329	5393	17	G	T	T	T	429	33	EPX	2	2
TBX4	9496	broad.mit.edu	37	17	59556082	59556082	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59556082G>T	uc010ddo.2	+	c.644G>T	c.(643-645)TGC>TTC	p.C215F	TBX4_uc002izi.2_Missense_Mutation_p.C215F|TBX4_uc010woy.1_Missense_Mutation_p.C215F	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	215	T-box.				leg morphogenesis|regulation of transcription, DNA-dependent|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.186813	33.607668	42.000926	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59556082	59556082	16186	17	G	T	T	T	598	46	TBX4	2	2
MARCH10	162333	broad.mit.edu	37	17	60814126	60814126	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60814126G>T	uc010dds.2	-	c.1217C>A	c.(1216-1218)TCT>TAT	p.S406Y	MARCH10_uc010ddr.2_Missense_Mutation_p.S368Y|MARCH10_uc002jag.3_Missense_Mutation_p.S368Y|MARCH10_uc002jah.2_Missense_Mutation_p.S367Y	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	368							ligase activity|zinc ion binding				0														0.218487	53.439682	62.201545	26	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60814126	60814126	9682	17	G	T	T	T	429	33	MARCH10	2	2
ACE	1636	broad.mit.edu	37	17	61568583	61568583	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61568583G>A	uc002jau.1	+	c.2753G>A	c.(2752-2754)AGG>AAG	p.R918K	ACE_uc002jav.1_Missense_Mutation_p.R344K|ACE_uc010ddv.1_Missense_Mutation_p.R145K|ACE_uc010wpj.1_Missense_Mutation_p.R344K|ACE_uc002jaw.1_Non-coding_Transcript|ACE_uc010wpk.1_Missense_Mutation_p.R164K	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	918	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.108108	3.671681	9.307257	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61568583	61568583	137	17	G	A	A	A	455	35	ACE	2	2
ACE	1636	broad.mit.edu	37	17	61571364	61571364	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61571364G>T	uc002jau.1	+	c.3218G>T	c.(3217-3219)CGC>CTC	p.R1073L	ACE_uc002jav.1_Missense_Mutation_p.R499L|ACE_uc010ddv.1_Missense_Mutation_p.R300L|ACE_uc010wpj.1_Missense_Mutation_p.R499L|ACE_uc002jaw.1_Non-coding_Transcript|ACE_uc010wpk.1_Missense_Mutation_p.R319L	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1073	Extracellular (Potential).|Peptidase M2 2.				angiotensin catabolic process in blood|arachidonic acid secretion|blood vessel remodeling|hemopoietic stem cell differentiation|hormone catabolic process|kidney development|mononuclear cell proliferation|peptide catabolic process|regulation of renal output by angiotensin|regulation of smooth muscle cell migration|regulation of vasoconstriction|regulation of vasodilation	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)									0.130435	4.11358	7.165713	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61571364	61571364	137	17	G	T	T	T	494	38	ACE	1	1
GH1	2688	broad.mit.edu	37	17	61995231	61995231	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61995231G>T	uc002jdj.2	-	c.345C>A	c.(343-345)CCC>CCA	p.P115P	GH1_uc002jdi.2_Silent_p.P100P|GH1_uc002jdk.2_Silent_p.P75P|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.P115P	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	115					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0										99				0.174603	19.307756	25.590532	11	52	KEEP	---	---	---	---	capture		Silent	SNP	61995231	61995231	6635	17	G	T	T	T	496	39	GH1	1	1
FBXO39	162517	broad.mit.edu	37	17	6683885	6683885	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6683885A>T	uc010vtg.1	+	c.698A>T	c.(697-699)TAC>TTC	p.Y233F		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	233										ovary(1)	1														0.137931	10.161134	17.517241	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6683885	6683885	5984	17	A	T	T	T	182	14	FBXO39	3	3
ABCA10	10349	broad.mit.edu	37	17	67149676	67149676	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67149676G>A	uc010dfa.1	-	c.3977C>T	c.(3976-3978)GCT>GTT	p.A1326V	ABCA10_uc010wqs.1_Missense_Mutation_p.A318V|ABCA10_uc010wqt.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1326	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.173077	32.828957	43.218752	18	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67149676	67149676	30	17	G	A	A	A	442	34	ABCA10	2	2
ABCA5	23461	broad.mit.edu	37	17	67309322	67309322	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67309322G>A	uc002jif.2	-	c.218C>T	c.(217-219)ACT>ATT	p.T73I	ABCA5_uc002jig.2_Missense_Mutation_p.T73I|ABCA5_uc002jih.2_Missense_Mutation_p.T73I|ABCA5_uc010dfe.2_Missense_Mutation_p.T73I	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	73					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.1	3.972182	10.362902	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67309322	67309322	36	17	G	A	A	A	468	36	ABCA5	2	2
DNAI2	64446	broad.mit.edu	37	17	72287239	72287239	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72287239G>T	uc002jkf.2	+	c.691G>T	c.(691-693)GTA>TTA	p.V231L	DNAI2_uc002jkg.2_Non-coding_Transcript|DNAI2_uc010dfp.2_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	231	WD 2.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3														0.25	124.046806	134.725303	47	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72287239	72287239	4793	17	G	T	T	T	520	40	DNAI2	1	1
NLGN2	57555	broad.mit.edu	37	17	7317710	7317710	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7317710G>T	uc002ggt.1	+	c.556G>T	c.(556-558)GGC>TGC	p.G186C		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	186	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|regulation of synaptic transmission|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	carboxylesterase activity|neurexin binding			central_nervous_system(1)	1		Prostate(122;0.157)												0.206897	14.438059	16.743835	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7317710	7317710	10865	17	G	T	T	T	507	39	NLGN2	1	1
EVPL	2125	broad.mit.edu	37	17	74010647	74010647	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74010647C>A	uc010wss.1	-	c.2299G>T	c.(2299-2301)GTG>TTG	p.V767L	EVPL_uc002jqi.2_Missense_Mutation_p.V745L|EVPL_uc010wst.1_Missense_Mutation_p.V215L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	745	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)	3														0.264706	20.970484	22.665682	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74010647	74010647	5485	17	C	A	A	A	234	18	EVPL	2	2
POLR2A	5430	broad.mit.edu	37	17	7406782	7406782	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7406782G>A	uc002ghf.3	+	c.3007G>A	c.(3007-3009)GAC>AAC	p.D1003N		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1003					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)												0.214286	12.634316	14.746214	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7406782	7406782	12642	17	G	A	A	A	481	37	POLR2A	1	1
DNAH17	8632	broad.mit.edu	37	17	76435278	76435278	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76435278A>G	uc010dhp.1	-	c.2699T>C	c.(2698-2700)ATA>ACA	p.I900T	DNAH17_uc002jvq.2_Missense_Mutation_p.I185T|DNAH17_uc002jvs.2_Non-coding_Transcript	DNEL2				SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)											0.173913	8.912475	11.199766	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76435278	76435278	4784	17	A	G	G	G	208	16	DNAH17	4	4
RNF213	57674	broad.mit.edu	37	17	78325513	78325513	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78325513A>T	uc002jyh.1	+	c.4432A>T	c.(4432-4434)ATA>TTA	p.I1478L	RNF213_uc010dhw.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)											0.115385	3.105202	6.894707	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78325513	78325513	13955	17	A	T	T	T	52	4	RNF213	3	3
CNTROB	116840	broad.mit.edu	37	17	7838353	7838353	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7838353C>T	uc002gjp.2	+	c.484C>T	c.(484-486)CTG>TTG	p.L162L	CNTROB_uc002gjq.2_Silent_p.L162L|CNTROB_uc002gjr.2_Silent_p.L64L|CNTROB_uc010vum.1_5'Flank	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	162					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)												0.181818	23.015012	28.2477	10	45	KEEP	---	---	---	---	capture		Silent	SNP	7838353	7838353	3789	17	C	T	T	T	311	24	CNTROB	2	2
ACTG1	71	broad.mit.edu	37	17	79479283	79479283	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79479283G>A	uc002kaj.1	-	c.98C>T	c.(97-99)TCC>TTC	p.S33F	ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_5'Flank|ACTG1_uc002kak.1_Missense_Mutation_p.S33F|ACTG1_uc010wun.1_Missense_Mutation_p.S33F|ACTG1_uc002kal.1_Missense_Mutation_p.S33F|ACTG1_uc002kag.2_Non-coding_Transcript	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	33					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)											0.185714	28.136105	34.614952	13	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79479283	79479283	197	17	G	A	A	A	533	41	ACTG1	2	2
CCDC42	146849	broad.mit.edu	37	17	8647024	8647024	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8647024G>A	uc002gln.2	-	c.214C>T	c.(214-216)CTG>TTG	p.L72L	CCDC42_uc002glo.2_Silent_p.L72L	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	72	Potential.									ovary(1)	1														0.368421	23.224604	23.511891	7	12	KEEP	---	---	---	---	capture		Silent	SNP	8647024	8647024	2936	17	G	A	A	A	451	35	CCDC42	2	2
GAS7	8522	broad.mit.edu	37	17	9923093	9923093	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9923093C>A	uc002gmg.1	-	c.304_splice	c.e2+1	p.E102_splice	GAS7_uc010vvd.1_Intron|GAS7_uc002gmi.2_Splice_Site_SNP_p.E38_splice|GAS7_uc002gmj.1_Splice_Site_SNP_p.E42_splice|GAS7_uc010coh.1_Splice_Site_SNP_p.E42_splice	NM_201433	NP_958839			growth arrest-specific 7 isoform c						cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.177778	16.677399	21.073704	8	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	9923093	9923093	6514	17	C	A	A	A	234	18	GAS7	5	2
ROCK1	6093	broad.mit.edu	37	18	18534823	18534823	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:18534823G>C	uc002kte.2	-	c.3774C>G	c.(3772-3774)GCC>GCG	p.A1258A		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	1258	PH.|Auto-inhibitory.|Phorbol-ester/DAG-type.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)									408				0.104478	3.767456	14.222117	7	60	KEEP	---	---	---	---	capture		Silent	SNP	18534823	18534823	13996	18	G	C	C	C	548	43	ROCK1	3	3
GATA6	2627	broad.mit.edu	37	18	19762931	19762931	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19762931C>T	uc002ktt.1	+	c.1547C>T	c.(1546-1548)CCA>CTA	p.P516L	GATA6_uc002ktu.1_Missense_Mutation_p.P516L	NM_005257	NP_005248	Q92908	GATA6_HUMAN	GATA binding protein 6	516					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|gene-specific transcription from RNA polymerase II promoter|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		promoter binding|protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(3)	3	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)								0.152174	12.49395	17.822286	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19762931	19762931	6522	18	C	T	T	T	273	21	GATA6	2	2
LAMA3	3909	broad.mit.edu	37	18	21338419	21338419	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21338419G>C	uc002kuq.2	+	c.1007G>C	c.(1006-1008)GGG>GCG	p.G336A	LAMA3_uc010dlv.1_Missense_Mutation_p.G336A|LAMA3_uc002kur.2_Missense_Mutation_p.G336A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	336	Laminin EGF-like 1.|Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.16	6.582736	9.336624	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21338419	21338419	8930	18	G	C	C	C	559	43	LAMA3	3	3
CDH2	1000	broad.mit.edu	37	18	25543321	25543321	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25543321C>A	uc002kwg.2	-	c.2514G>T	c.(2512-2514)GAG>GAT	p.E838D	CDH2_uc010xbn.1_Missense_Mutation_p.E807D	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	838	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.25	10.191663	11.101162	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25543321	25543321	3234	18	C	A	A	A	311	24	CDH2	2	2
CDH2	1000	broad.mit.edu	37	18	25570121	25570121	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25570121C>A	uc002kwg.2	-	c.1538G>T	c.(1537-1539)GGT>GTT	p.G513V	CDH2_uc010xbn.1_Missense_Mutation_p.G482V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	513	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.115942	9.010038	18.979155	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25570121	25570121	3234	18	C	A	A	A	234	18	CDH2	2	2
CDH2	1000	broad.mit.edu	37	18	25572768	25572768	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25572768T>A	uc002kwg.2	-	c.1195A>T	c.(1195-1197)ATA>TTA	p.I399L	CDH2_uc010xbn.1_Missense_Mutation_p.I368L	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	399	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.142857	13.428685	19.420875	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25572768	25572768	3234	18	T	A	A	A	663	51	CDH2	3	3
DSG2	1829	broad.mit.edu	37	18	29122774	29122774	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29122774G>C	uc002kwu.3	+	c.2293G>C	c.(2293-2295)GTT>CTT	p.V765L		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	765	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)	8			OV - Ovarian serous cystadenocarcinoma(10;0.0068)											0.24	32.880018	35.964928	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29122774	29122774	4961	18	G	C	C	C	624	48	DSG2	3	3
RNF138	51444	broad.mit.edu	37	18	29706687	29706687	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29706687G>T	uc002kxg.2	+	c.593G>T	c.(592-594)GGA>GTA	p.G198V	RNF138_uc002kxh.2_Missense_Mutation_p.G104V	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	198					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0														0.149254	15.530898	23.418549	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29706687	29706687	13918	18	G	T	T	T	533	41	RNF138	2	2
FHOD3	80206	broad.mit.edu	37	18	34081905	34081905	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34081905C>A	uc002kzs.1	+	c.348C>A	c.(346-348)TAC>TAA	p.Y116*	FHOD3_uc002kzr.1_Nonsense_Mutation_p.Y116*|FHOD3_uc002kzt.1_Nonsense_Mutation_p.Y116*	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	116	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|breast(2)|ovary(1)	5		all_epithelial(2;0.0181)|Colorectal(2;0.0195)												0.222222	8.990729	10.268565	4	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34081905	34081905	6121	18	C	A	A	A	220	17	FHOD3	5	2
KIAA1328	57536	broad.mit.edu	37	18	34753036	34753036	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:34753036C>T	uc002kzz.2	+	c.1515C>T	c.(1513-1515)ACC>ACT	p.T505T	KIAA1328_uc002lab.2_Silent_p.T257T|KIAA1328_uc002lac.1_Silent_p.T364T|KIAA1328_uc010dnc.1_Non-coding_Transcript	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	505										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)										0.127273	4.087446	11.608767	7	48	KEEP	---	---	---	---	capture		Silent	SNP	34753036	34753036	8534	18	C	T	T	T	262	21	KIAA1328	2	2
KIAA0427	9811	broad.mit.edu	37	18	46284530	46284530	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:46284530G>C	uc002ldd.2	+	c.825G>C	c.(823-825)ATG>ATC	p.M275I	KIAA0427_uc002ldc.2_Missense_Mutation_p.M275I|KIAA0427_uc002lde.3_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 2	275	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0														0.194444	17.403491	20.53912	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46284530	46284530	8483	18	G	C	C	C	585	45	KIAA0427	3	3
KIAA1468	57614	broad.mit.edu	37	18	59931285	59931285	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59931285A>T	uc002lil.2	+	c.2414A>T	c.(2413-2415)GAG>GTG	p.E805V	KIAA1468_uc002lik.1_Missense_Mutation_p.E805V|KIAA1468_uc010xel.1_Missense_Mutation_p.E805V|KIAA1468_uc002lim.2_Missense_Mutation_p.E449V	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	805							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.307692	31.083678	32.370514	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59931285	59931285	8545	18	A	T	T	T	143	11	KIAA1468	3	3
RTTN	25914	broad.mit.edu	37	18	67869201	67869201	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:67869201T>C	uc002lkp.2	-	c.416A>G	c.(415-417)GAA>GGA	p.E139G	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.E139G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	139							binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Esophageal squamous(42;0.129)												0.241379	18.80742	20.580432	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67869201	67869201	14217	18	T	C	C	C	806	62	RTTN	4	4
LAMA1	284217	broad.mit.edu	37	18	7015759	7015759	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7015759C>A	uc002knm.2	-	c.3088G>T	c.(3088-3090)GAT>TAT	p.D1030Y	LAMA1_uc010wzj.1_Missense_Mutation_p.D506Y	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1030	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.177419	19.59338	25.668576	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7015759	7015759	8928	18	C	A	A	A	390	30	LAMA1	2	2
LAMA1	284217	broad.mit.edu	37	18	7043261	7043261	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:7043261C>T	uc002knm.2	-	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	374	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1597				0.103896	12.246282	36.2739	16	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7043261	7043261	8928	18	C	T	T	T	377	29	LAMA1	2	2
NETO1	81832	broad.mit.edu	37	18	70461637	70461637	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70461637G>T	uc002lkw.2	-	c.472C>A	c.(472-474)CCT>ACT	p.P158T	NETO1_uc002lkx.1_Missense_Mutation_p.P157T|NETO1_uc002lky.1_Missense_Mutation_p.P158T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	158	Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.267606	46.895754	50.357169	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70461637	70461637	10738	18	G	T	T	T	533	41	NETO1	2	2
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72247405A>G	uc002llq.2	+	c.1207A>G	c.(1207-1209)AGT>GGT	p.S403G	CNDP1_uc002lls.2_Missense_Mutation_p.S206G	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	403					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		Melanoma(32;1029 1042 25286 38395 44237)								0.291667	21.943176	22.859913	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72247405	72247405	3731	18	A	G	G	G	195	15	CNDP1	4	4
ZNF236	7776	broad.mit.edu	37	18	74592256	74592256	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74592256A>G	uc002lmi.2	+	c.1166A>G	c.(1165-1167)AAC>AGC	p.N389S	ZNF236_uc002lmj.2_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.N389S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	389					cellular response to glucose stimulus|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.15625	10.060669	13.665563	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74592256	74592256	18380	18	A	G	G	G	26	2	ZNF236	4	4
SALL3	27164	broad.mit.edu	37	18	76753771	76753771	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:76753771A>T	uc002lmt.2	+	c.1780A>T	c.(1780-1782)ACT>TCT	p.T594S	SALL3_uc010dra.2_Missense_Mutation_p.T201S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)										0.428571	9.530086	9.559705	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76753771	76753771	14292	18	A	T	T	T	78	6	SALL3	3	3
SALL3	27164	broad.mit.edu	37	18	76757010	76757010	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:76757010G>T	uc002lmt.2	+	c.3591G>T	c.(3589-3591)CAG>CAT	p.Q1197H	SALL3_uc010dra.2_Missense_Mutation_p.Q732H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)										0.208333	21.728991	25.506838	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76757010	76757010	14292	18	G	T	T	T	425	33	SALL3	2	2
ICAM5	7087	broad.mit.edu	37	19	10405227	10405227	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10405227G>T	uc002mnu.3	+	c.2141G>T	c.(2140-2142)CGC>CTC	p.R714L	ICAM5_uc002mnv.3_Missense_Mutation_p.R589L	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	714	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)											0.631579	40.305362	40.595324	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10405227	10405227	7783	19	G	T	T	T	494	38	ICAM5	1	1
KEAP1	9817	broad.mit.edu	37	19	10610415	10610415	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610415C>A	uc002moq.1	-	c.295G>T	c.(295-297)GTG>TTG	p.V99L	KEAP1_uc002mor.1_Missense_Mutation_p.V99L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	99	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.527778	57.924432	57.948741	19	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10610415	10610415	8447	19	C	A	A	A	234	18	KEAP1	2	2
TMED1	11018	broad.mit.edu	37	19	10946030	10946030	+	Splice_Site_SNP	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10946030C>T	uc002mpy.2	-	c.184_splice	c.e2-1	p.V62_splice		NM_006858	NP_006849			interleukin 1 receptor-like 1 ligand precursor						cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			ovary(2)|breast(1)|central_nervous_system(1)	4														0.430769	82.584258	82.856692	28	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	10946030	10946030	16532	19	C	T	T	T	312	24	TMED1	5	2
LDLR	3949	broad.mit.edu	37	19	11224363	11224363	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11224363A>G	uc002mqk.3	+	c.1511A>G	c.(1510-1512)AAG>AGG	p.K504R	LDLR_uc010xlk.1_Missense_Mutation_p.K504R|LDLR_uc010xll.1_Missense_Mutation_p.K463R|LDLR_uc010xlm.1_Missense_Mutation_p.K357R|LDLR_uc010xln.1_Missense_Mutation_p.K377R|LDLR_uc010xlo.1_Missense_Mutation_p.K336R	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	504	Extracellular (Potential).|LDL-receptor class B 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)	2		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GBM(18;201 575 7820 21545)				1109				0.564103	73.341714	73.480071	22	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11224363	11224363	9028	19	A	G	G	G	39	3	LDLR	4	4
CCDC151	115948	broad.mit.edu	37	19	11531872	11531872	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11531872G>T	uc002mrs.2	-	c.1599C>A	c.(1597-1599)GCC>GCA	p.A533A	CCDC151_uc002mrr.2_Silent_p.A468A|CCDC151_uc010dxz.2_Silent_p.A473A|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	533										ovary(1)	1														0.4	10.292128	10.381071	4	6	KEEP	---	---	---	---	capture		Silent	SNP	11531872	11531872	2906	19	G	T	T	T	600	47	CCDC151	2	2
ASNA1	439	broad.mit.edu	37	19	12856311	12856311	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12856311G>A	uc002muv.2	+	c.430G>A	c.(430-432)GAG>AAG	p.E144K	ASNA1_uc002muw.2_Missense_Mutation_p.E143K	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	144					cellular metal ion homeostasis	endoplasmic reticulum|nucleolus|soluble fraction	arsenite transmembrane transporter activity|ATP binding|hydrolase activity|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)									0.456522	61.567039	61.642997	21	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12856311	12856311	1066	19	G	A	A	A	585	45	ASNA1	2	2
HOOK2	29911	broad.mit.edu	37	19	12877045	12877045	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12877045G>C	uc002muy.2	-	c.1383C>G	c.(1381-1383)CTC>CTG	p.L461L	HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.L461L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	461	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)	2												OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4	13.297907	13.385413	4	6	KEEP	---	---	---	---	capture		Silent	SNP	12877045	12877045	7575	19	G	C	C	C	522	41	HOOK2	3	3
CYP4F2	8529	broad.mit.edu	37	19	16008282	16008282	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16008282C>G	uc002nbs.1	-	c.140G>C	c.(139-141)CGC>CCC	p.R47P	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	47					leukotriene metabolic process|long-chain fatty acid metabolic process|oxidation-reduction process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2														0.18	18.403824	23.295256	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16008282	16008282	4353	19	C	G	G	G	351	27	CYP4F2	3	3
CYP4F2	8529	broad.mit.edu	37	19	16008286	16008286	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16008286G>C	uc002nbs.1	-	c.136C>G	c.(136-138)CGC>GGC	p.R46G	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	46					leukotriene metabolic process|long-chain fatty acid metabolic process|oxidation-reduction process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2														0.18	16.057297	20.871865	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16008286	16008286	4353	19	G	C	C	C	507	39	CYP4F2	3	3
MYO9B	4650	broad.mit.edu	37	19	17265191	17265191	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17265191G>A	uc010eak.2	+	c.1165G>A	c.(1165-1167)GAG>AAG	p.E389K	MYO9B_uc002nfi.2_Missense_Mutation_p.E389K|MYO9B_uc002nfj.1_Missense_Mutation_p.E389K	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	389	Myosin head-like.				actin filament-based movement|Rho protein signal transduction	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1														0.288889	33.65537	35.454158	13	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17265191	17265191	10480	19	G	A	A	A	533	41	MYO9B	2	2
SLC5A5	6528	broad.mit.edu	37	19	17986864	17986864	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17986864C>T	uc002nhr.3	+	c.647C>T	c.(646-648)CCC>CTC	p.P216L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	216	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			ovary(1)|central_nervous_system(1)	2						Melanoma(65;1008 1708 7910 46650)								0.295775	56.093858	58.716777	21	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17986864	17986864	15165	19	C	T	T	T	286	22	SLC5A5	2	2
ZNF676	163223	broad.mit.edu	37	19	22363097	22363097	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363097C>A	uc002nqs.1	-	c.1422G>T	c.(1420-1422)GAG>GAT	p.E474D		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					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)												0.387755	109.341237	110.418079	38	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363097	22363097	18678	19	C	A	A	A	415	32	ZNF676	2	2
ZNF536	9745	broad.mit.edu	37	19	31039133	31039133	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039133C>G	uc002nsu.1	+	c.2607C>G	c.(2605-2607)CAC>CAG	p.H869Q	ZNF536_uc010edd.1_Missense_Mutation_p.H869Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.464286	130.925408	131.016322	39	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31039133	31039133	18568	19	C	G	G	G	259	20	ZNF536	3	3
ZNF536	9745	broad.mit.edu	37	19	31039148	31039148	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039148G>C	uc002nsu.1	+	c.2622G>C	c.(2620-2622)ACG>ACC	p.T874T	ZNF536_uc010edd.1_Silent_p.T874T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.460674	122.988603	123.100518	41	48	KEEP	---	---	---	---	capture		Silent	SNP	31039148	31039148	18568	19	G	C	C	C	496	39	ZNF536	3	3
TSHZ3	57616	broad.mit.edu	37	19	31767679	31767679	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31767679G>T	uc002nsy.3	-	c.3020C>A	c.(3019-3021)TCC>TAC	p.S1007Y		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	1007					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.408163	56.379876	56.743477	20	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31767679	31767679	17176	19	G	T	T	T	533	41	TSHZ3	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769600	31769601	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769600_31769601CG>AT	uc002nsy.3	-	c.1098_1099CG>AT	c.(1096-1101)TACGGC>TAATGC	p.366_367YG>*C		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	366_367					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.355191	178.166212	181.570666	65	118	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	31769600	31769601	17176	19	CG	AT	AT	AT	299	23	TSHZ3	5	1
S1PR4	8698	broad.mit.edu	37	19	3179494	3179494	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3179494A>G	uc002lxg.2	+	c.704A>G	c.(703-705)CAG>CGG	p.Q235R		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	235	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity				0						GBM(82;318 1638 33279 49708)								0.407407	65.95533	66.354802	22	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3179494	3179494	14276	19	A	G	G	G	91	7	S1PR4	4	4
FAM187B	148109	broad.mit.edu	37	19	35719355	35719355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35719355C>A	uc002nyk.1	-	c.229G>T	c.(229-231)GAG>TAG	p.E77*		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	77	Extracellular (Potential).					integral to membrane				ovary(2)	2														0.470588	100.992899	101.044092	32	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35719355	35719355	5723	19	C	A	A	A	403	31	FAM187B	5	1
ZNF570	148268	broad.mit.edu	37	19	37975731	37975731	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37975731C>T	uc010efl.1	+	c.1375C>T	c.(1375-1377)CAA>TAA	p.Q459*	ZNF570_uc002ogk.1_Nonsense_Mutation_p.Q403*|ZNF570_uc010xtr.1_Nonsense_Mutation_p.Q200*	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	403	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.411765	78.565818	79.030652	28	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37975731	37975731	18597	19	C	T	T	T	377	29	ZNF570	5	2
GGN	199720	broad.mit.edu	37	19	38877550	38877550	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38877550G>A	uc002oij.1	-	c.352C>T	c.(352-354)CCA>TCA	p.P118S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P35S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	118	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.636364	22.727465	22.907265	7	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38877550	38877550	6626	19	G	A	A	A	533	41	GGN	2	2
ACTN4	81	broad.mit.edu	37	19	39138465	39138465	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39138465G>T	uc002oja.1	+	c.80G>T	c.(79-81)AGC>ATC	p.S27I	ACTN4_uc010egc.1_Missense_Mutation_p.S27I	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	27	Actin-binding.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			Colon(168;199 1940 10254 46213 46384)								0.666667	13.602129	13.749888	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39138465	39138465	208	19	G	T	T	T	442	34	ACTN4	2	2
ITGB1BP3	27231	broad.mit.edu	37	19	3942236	3942236	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3942236G>T	uc010xia.1	+	c.673G>T	c.(673-675)GCC>TCC	p.A225S	ITGB1BP3_uc002lyz.3_Missense_Mutation_p.A220S	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	220					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)										0.222222	7.167396	8.474121	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3942236	3942236	8197	19	G	T	T	T	546	42	ITGB1BP3	2	2
SERTAD3	29946	broad.mit.edu	37	19	40947909	40947909	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40947909G>A	uc002onu.3	-	c.79C>T	c.(79-81)CAG>TAG	p.Q27*	SERTAD3_uc002onv.3_Nonsense_Mutation_p.Q27*	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	27	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.4	18.847037	18.978231	6	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40947909	40947909	14610	19	G	A	A	A	585	45	SERTAD3	5	2
CYP2B6	1555	broad.mit.edu	37	19	41512853	41512853	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41512853C>T	uc002opr.1	+	c.528C>T	c.(526-528)GCC>GCT	p.A176A	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	176					cellular ketone metabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)					56				0.4	40.569927	40.866835	14	21	KEEP	---	---	---	---	capture		Silent	SNP	41512853	41512853	4329	19	C	T	T	T	262	21	CYP2B6	2	2
CYP2B6	1555	broad.mit.edu	37	19	41522588	41522588	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41522588G>T	uc002opr.1	+	c.1332G>T	c.(1330-1332)GCG>GCT	p.A444A	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Silent_p.A244A	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	444					cellular ketone metabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)					56				0.516129	52.526892	52.535601	16	15	KEEP	---	---	---	---	capture		Silent	SNP	41522588	41522588	4329	19	G	T	T	T	496	39	CYP2B6	1	1
PSG11	5680	broad.mit.edu	37	19	43523025	43523025	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43523025G>C	uc002ovn.1	-	c.624C>G	c.(622-624)CTC>CTG	p.L208L	PSG11_uc002ouw.2_Silent_p.L208L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.L208L|PSG11_uc002ovm.1_Silent_p.L202L|PSG11_uc002ovo.1_Silent_p.L80L|PSG11_uc002ovp.1_Silent_p.L80L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	202	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.428571	429.661049	430.992449	129	172	KEEP	---	---	---	---	capture		Silent	SNP	43523025	43523025	13107	19	G	C	C	C	418	33	PSG11	3	3
PSG9	5678	broad.mit.edu	37	19	43762581	43762581	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43762581G>A	uc002owd.3	-	c.1016C>T	c.(1015-1017)CCT>CTT	p.P339L	PSG9_uc002owe.3_Missense_Mutation_p.P246L|PSG9_uc010xwm.1_Missense_Mutation_p.P246L|PSG9_uc002owf.3_Missense_Mutation_p.P153L|PSG9_uc002owg.2_Missense_Mutation_p.P246L|PSG9_uc002owh.2_Missense_Mutation_p.P153L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	339	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.572816	197.583461	198.05269	59	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43762581	43762581	13115	19	G	A	A	A	455	35	PSG9	2	2
ZNF230	7773	broad.mit.edu	37	19	44515399	44515399	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44515399G>T	uc002oyb.1	+	c.1208G>T	c.(1207-1209)CGG>CTG	p.R403L		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	403	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GBM(175;914 2069 22996 47111 52600)								0.481928	130.104894	130.127777	40	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44515399	44515399	18375	19	G	T	T	T	507	39	ZNF230	1	1
CEACAM19	56971	broad.mit.edu	37	19	45183600	45183600	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45183600G>T	uc002ozo.3	+	c.700G>T	c.(700-702)GAT>TAT	p.D234Y	CEACAM19_uc002ozp.3_Missense_Mutation_p.D234Y	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	234	Cytoplasmic (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)												0.384615	57.386412	57.993799	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45183600	45183600	3323	19	G	T	T	T	585	45	CEACAM19	2	2
SEMA6B	10501	broad.mit.edu	37	19	4556015	4556015	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4556015C>A	uc010duc.1	-	c.456G>T	c.(454-456)GTG>GTT	p.V152V	SEMA6B_uc010dud.2_Silent_p.V152V|SEMA6B_uc010xih.1_Silent_p.V152V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	152	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)										0.282051	28.998286	30.670946	11	28	KEEP	---	---	---	---	capture		Silent	SNP	4556015	4556015	14526	19	C	A	A	A	210	17	SEMA6B	2	2
EXOC3L2	90332	broad.mit.edu	37	19	45716578	45716578	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45716578G>T	uc002pay.1	-	c.979C>A	c.(979-981)CTG>ATG	p.L327M		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	327											0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)										0.292683	32.527414	34.08008	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45716578	45716578	5498	19	G	T	T	T	451	35	EXOC3L2	2	2
ERCC2	2068	broad.mit.edu	37	19	45867586	45867586	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45867586T>A	uc002pbj.2	-	c.722A>T	c.(721-723)AAC>ATC	p.N241I	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N163I|ERCC2_uc002pbk.2_Missense_Mutation_p.N217I|ERCC2_uc002pbl.3_Missense_Mutation_p.N217I|ERCC2_uc010xxj.1_Non-coding_Transcript	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	241	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(1)|pancreas(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)						447				0.583333	61.845264	62.058445	21	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45867586	45867586	5406	19	T	A	A	A	780	60	ERCC2	3	3
PNMAL2	57469	broad.mit.edu	37	19	46997168	46997168	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46997168C>T	uc002pes.2	-	c.1555G>A	c.(1555-1557)GAG>AAG	p.E519K		NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	519										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)										0.475	57.622528	57.644221	19	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46997168	46997168	12585	19	C	T	T	T	403	31	PNMAL2	1	1
GRLF1	2909	broad.mit.edu	37	19	47503629	47503629	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47503629A>G	uc010ekv.2	+	c.4184A>G	c.(4183-4185)AAC>AGC	p.N1395S		NM_004491	NP_004482	Q9NRY4	GRLF1_HUMAN	glucocorticoid receptor DNA binding factor 1	1395	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	DNA binding|Rho GTPase activator activity|transcription corepressor activity|transcription repressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)										0.474074	212.653491	212.726124	64	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47503629	47503629	7074	19	A	G	G	G	26	2	GRLF1	4	4
SLC8A2	6543	broad.mit.edu	37	19	47969343	47969343	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47969343C>G	uc002pgx.2	-	c.318G>C	c.(316-318)GAG>GAC	p.E106D	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.E106D	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	106	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(1)	1		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)										0.327273	55.358665	56.800037	18	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47969343	47969343	15204	19	C	G	G	G	415	32	SLC8A2	3	3
LMTK3	114783	broad.mit.edu	37	19	49013301	49013301	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49013301C>T	uc002pjk.2	-	c.427G>A	c.(427-429)GCC>ACC	p.A143T		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)						193				0.375	17.145669	17.365286	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49013301	49013301	9189	19	C	T	T	T	325	25	LMTK3	2	2
HRC	3270	broad.mit.edu	37	19	49657696	49657696	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49657696T>C	uc002pmv.2	-	c.799A>G	c.(799-801)AGA>GGA	p.R267G		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	267	4 X tandem repeats, acidic.|1-2.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		Melanoma(37;75 1097 24567 25669 30645)								0.511628	75.95236	75.9575	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49657696	49657696	7644	19	T	C	C	C	687	53	HRC	4	4
HRC	3270	broad.mit.edu	37	19	49657763	49657763	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49657763T>C	uc002pmv.2	-	c.732A>G	c.(730-732)GAA>GAG	p.E244E		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	244	4 X tandem repeats, acidic.|1-2.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		Melanoma(37;75 1097 24567 25669 30645)								0.515152	58.704663	58.712977	17	16	KEEP	---	---	---	---	capture		Silent	SNP	49657763	49657763	7644	19	T	C	C	C	725	56	HRC	4	4
GPR32	2854	broad.mit.edu	37	19	51273984	51273984	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51273984C>G	uc010ycf.1	+	c.127C>G	c.(127-129)CGC>GGC	p.R43G		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	43	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		Esophageal Squamous(113;152 1581 5732 15840 44398)								0.575758	60.424401	60.589106	19	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51273984	51273984	6963	19	C	G	G	G	299	23	GPR32	3	3
KLK7	5650	broad.mit.edu	37	19	51483572	51483572	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51483572G>A	uc002puo.2	-	c.393C>T	c.(391-393)GTC>GTT	p.V131V	KLK7_uc002pup.2_Silent_p.V131V|KLK7_uc010yco.1_Silent_p.V5V|KLK7_uc010eok.2_Silent_p.V59V	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	131	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)						155				0.454545	43.722017	43.781202	15	18	KEEP	---	---	---	---	capture		Silent	SNP	51483572	51483572	8723	19	G	A	A	A	574	45	KLK7	2	2
KLK9	284366	broad.mit.edu	37	19	51507026	51507026	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51507026G>T	uc002pux.1	-	c.537C>A	c.(535-537)TAC>TAA	p.Y179*	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Nonsense_Mutation_p.Y150*|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_Non-coding_Transcript	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	179	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)										0.4	76.34971	76.913252	26	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51507026	51507026	8725	19	G	T	T	T	568	44	KLK9	5	2
ZNF600	162966	broad.mit.edu	37	19	53268921	53268921	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53268921A>G	uc002qab.3	-	c.2088T>C	c.(2086-2088)TGT>TGC	p.C696C		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	696	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		Esophageal Squamous(196;1235 2112 2375 33339 34207)								0.472527	143.982863	144.044586	43	48	KEEP	---	---	---	---	capture		Silent	SNP	53268921	53268921	18625	19	A	G	G	G	180	14	ZNF600	4	4
PRKCG	5582	broad.mit.edu	37	19	54403579	54403579	+	Splice_Site_SNP	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54403579G>A	uc010yeg.1	+	c.1373_splice	c.e12+1	p.A458_splice	PRKCG_uc002qcq.1_Splice_Site_SNP_p.A458_splice|PRKCG_uc010yeh.1_Splice_Site_SNP_p.A345_splice	NM_002739	NP_002730			protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|protein phosphorylation|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)					(CMLT1-Tumor)	505				0.348837	41.452499	42.300944	15	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54403579	54403579	12955	19	G	A	A	A	520	40	PRKCG	5	1
LILRB4	11006	broad.mit.edu	37	19	55179176	55179176	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55179176C>A	uc002qgr.2	+	c.1258C>A	c.(1258-1260)CCA>ACA	p.P420T	LILRB4_uc002qgp.2_Missense_Mutation_p.P378T|LILRB4_uc002qgq.2_Missense_Mutation_p.P377T|LILRB4_uc010ert.2_Missense_Mutation_p.P419T|LILRB4_uc010eru.2_Missense_Mutation_p.P408T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	378	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)										0.541667	38.775227	38.81159	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55179176	55179176	9119	19	C	A	A	A	286	22	LILRB4	2	2
NLRP7	199713	broad.mit.edu	37	19	55450962	55450962	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55450962G>T	uc010esl.2	-	c.1309C>A	c.(1309-1311)CGG>AGG	p.R437R	NLRP7_uc002qig.3_Silent_p.R409R|NLRP7_uc002qii.3_Silent_p.R409R|NLRP7_uc002qih.3_Silent_p.R409R|NLRP7_uc010esk.2_Silent_p.R409R	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	409	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.518519	45.352911	45.36115	14	13	KEEP	---	---	---	---	capture		Silent	SNP	55450962	55450962	10885	19	G	T	T	T	493	38	NLRP7	1	1
NLRP9	338321	broad.mit.edu	37	19	56244283	56244283	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56244283G>T	uc002qly.2	-	c.914C>A	c.(913-915)TCG>TAG	p.S305*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT.					cytoplasm	ATP binding			ovary(2)|skin(2)|breast(1)	5		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)										0.367647	68.656116	69.703181	25	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56244283	56244283	10887	19	G	T	T	T	481	37	NLRP9	5	1
NLRP8	126205	broad.mit.edu	37	19	56466489	56466489	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56466489G>T	uc002qmh.2	+	c.1065G>T	c.(1063-1065)CCG>CCT	p.P355P	NLRP8_uc010etg.2_Silent_p.P355P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	355	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.378049	95.312273	96.37931	31	51	KEEP	---	---	---	---	capture		Silent	SNP	56466489	56466489	10886	19	G	T	T	T	496	39	NLRP8	1	1
PEG3	5178	broad.mit.edu	37	19	57335796	57335796	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57335796C>A	uc002qnu.2	-	c.228G>T	c.(226-228)CAG>CAT	p.Q76H	ZIM2_uc010ygq.1_Splice_Site_SNP|ZIM2_uc010ygr.1_Splice_Site_SNP|ZIM2_uc002qnr.2_Splice_Site_SNP|ZIM2_uc002qnq.2_Splice_Site_SNP|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Splice_Site_SNP|PEG3_uc002qnt.2_Missense_Mutation_p.Q76H|PEG3_uc002qnv.2_Missense_Mutation_p.Q76H|PEG3_uc002qnw.2_Splice_Site_SNP|PEG3_uc002qnx.2_Splice_Site_SNP|PEG3_uc010etr.2_Missense_Mutation_p.Q76H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	76	SCAN box.				apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.446809	125.305472	125.540162	42	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57335796	57335796	12141	19	C	A	A	A	364	28	PEG3	2	2
USP29	57663	broad.mit.edu	37	19	57640629	57640629	+	Nonsense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57640629A>T	uc002qny.2	+	c.586A>T	c.(586-588)AAG>TAG	p.K196*		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	196					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.594595	139.509302	140.087346	44	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57640629	57640629	17623	19	A	T	T	T	169	13	USP29	5	3
ZNF773	374928	broad.mit.edu	37	19	58018006	58018006	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58018006G>A	uc002qox.2	+	c.543G>A	c.(541-543)AGG>AGA	p.R181R	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.R180R|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)										0.451613	43.647313	43.710244	14	17	KEEP	---	---	---	---	capture		Silent	SNP	58018006	58018006	18744	19	G	A	A	A	555	43	ZNF773	2	2
ZNF416	55659	broad.mit.edu	37	19	58087211	58087211	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58087211C>G	uc002qpf.2	-	c.163G>C	c.(163-165)GAT>CAT	p.D55H	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.371795	89.558203	90.682537	29	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58087211	58087211	18486	19	C	G	G	G	403	31	ZNF416	3	3
TUBB4	10382	broad.mit.edu	37	19	6495419	6495419	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6495419G>T	uc002mfg.1	-	c.1091C>A	c.(1090-1092)GCC>GAC	p.A364D	TUBB4_uc002mff.1_Missense_Mutation_p.A292D|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	364					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)										0.326531	126.999316	130.897943	48	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6495419	6495419	17313	19	G	T	T	T	546	42	TUBB4	2	2
PEX11G	92960	broad.mit.edu	37	19	7543247	7543247	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7543247C>A	uc002mgk.1	-	c.444G>T	c.(442-444)CTG>CTT	p.L148L	PEX11G_uc002mgl.1_Silent_p.L78L	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	148	Helical; (Potential).					integral to membrane|peroxisomal membrane					0														0.315789	15.240987	15.815717	6	13	KEEP	---	---	---	---	capture		Silent	SNP	7543247	7543247	12161	19	C	A	A	A	314	25	PEX11G	2	2
PNPLA6	10908	broad.mit.edu	37	19	7606248	7606248	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7606248G>T	uc010xjq.1	+	c.960G>T	c.(958-960)ATG>ATT	p.M320I	PNPLA6_uc002mgq.1_Missense_Mutation_p.M272I|PNPLA6_uc010xjp.1_Missense_Mutation_p.M272I|PNPLA6_uc002mgr.1_Missense_Mutation_p.M272I|PNPLA6_uc002mgs.2_Missense_Mutation_p.M311I	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	311	cNMP 1.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3														0.153846	7.282494	10.261944	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7606248	7606248	12596	19	G	T	T	T	611	47	PNPLA6	2	2
FBN3	84467	broad.mit.edu	37	19	8130964	8130964	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8130964C>A	uc002mjf.2	-	c.8269G>T	c.(8269-8271)GGC>TGC	p.G2757C	FBN3_uc002mje.2_Missense_Mutation_p.G553C	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2757						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.25	48.760767	53.308847	20	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8130964	8130964	5940	19	C	A	A	A	273	21	FBN3	2	2
ACTL9	284382	broad.mit.edu	37	19	8808127	8808127	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8808127C>A	uc002mkl.2	-	c.925G>T	c.(925-927)GGG>TGG	p.G309W		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	309						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3														0.258621	35.797566	38.861008	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8808127	8808127	204	19	C	A	A	A	286	22	ACTL9	2	2
MUC16	94025	broad.mit.edu	37	19	9076553	9076553	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9076553G>T	uc002mkp.2	-	c.10893C>A	c.(10891-10893)CCC>CCA	p.P3631P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3632	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														0.262295	39.269254	42.389841	16	45	KEEP	---	---	---	---	capture		Silent	SNP	9076553	9076553	10367	19	G	T	T	T	548	43	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9082905	9082906	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9082905_9082906CA>AT	uc002mkp.2	-	c.8909_8910TG>AT	c.(8908-8910)ATG>AAT	p.M2970N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2971	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.386364	96.916763	97.916285	34	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	9082905	9082906	10367	19	CA	AT	AT	AT	273	21	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9088391	9088391	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9088391C>A	uc002mkp.2	-	c.3424G>T	c.(3424-3426)GAT>TAT	p.D1142Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1142	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														0.357143	39.477515	40.246898	15	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9088391	9088391	10367	19	C	A	A	A	377	29	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9089293	9089293	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9089293G>A	uc002mkp.2	-	c.2522C>T	c.(2521-2523)CCA>CTA	p.P841L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	841	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														0.360465	84.908999	86.379168	31	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9089293	9089293	10367	19	G	A	A	A	611	47	MUC16	2	2
FBXL12	54850	broad.mit.edu	37	19	9921870	9921870	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9921870C>A	uc002mme.2	-	c.683G>T	c.(682-684)CGA>CTA	p.R228L	FBXL12_uc002mmd.2_Missense_Mutation_p.R175L|FBXL12_uc002mmf.2_Missense_Mutation_p.R175L|FBXL12_uc002mmg.2_Missense_Mutation_p.R175L|FBXL12_uc002mmh.2_Missense_Mutation_p.R175L	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	228	LRR 6.						protein binding			lung(1)|kidney(1)	2														0.235294	9.692144	10.781072	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9921870	9921870	5945	19	C	A	A	A	403	31	FBXL12	1	1
PALMD	54873	broad.mit.edu	37	1	100155280	100155280	+	Silent	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100155280T>A	uc001dsf.2	+	c.1464T>A	c.(1462-1464)GCT>GCA	p.A488A	PALMD_uc001dsg.2_Silent_p.A488A	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	488					regulation of cell shape	cytoplasm|membrane				ovary(1)|pancreas(1)	2		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)										0.216216	17.713447	20.439349	8	29	KEEP	---	---	---	---	capture		Silent	SNP	100155280	100155280	11828	1	T	A	A	A	678	53	PALMD	3	3
UBE4B	10277	broad.mit.edu	37	1	10207066	10207066	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10207066G>T	uc001aqs.3	+	c.2509G>T	c.(2509-2511)GAG>TAG	p.E837*	UBE4B_uc001aqr.3_Nonsense_Mutation_p.E708*|UBE4B_uc010oai.1_Non-coding_Transcript|UBE4B_uc010oaj.1_Nonsense_Mutation_p.E292*|UBE4B_uc001aqt.1_Nonsense_Mutation_p.E177*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	837					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)										0.268293	58.529408	62.494149	22	60	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10207066	10207066	17441	1	G	T	T	T	481	37	UBE4B	5	1
COL11A1	1301	broad.mit.edu	37	1	103348790	103348790	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103348790C>A	uc001dum.2	-	c.4972G>T	c.(4972-4974)GAG>TAG	p.E1658*	COL11A1_uc001duk.2_Nonsense_Mutation_p.E842*|COL11A1_uc001dul.2_Nonsense_Mutation_p.E1646*|COL11A1_uc001dun.2_Nonsense_Mutation_p.E1607*|COL11A1_uc009weh.2_Nonsense_Mutation_p.E1530*	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1646	Fibrillar collagen NC1.				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)										0.19697	24.864268	30.494635	13	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103348790	103348790	3805	1	C	A	A	A	377	29	COL11A1	5	2
COL11A1	1301	broad.mit.edu	37	1	103444652	103444652	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103444652A>T	uc001dum.2	-	c.2655T>A	c.(2653-2655)GCT>GCA	p.A885A	COL11A1_uc001duk.2_Silent_p.A69A|COL11A1_uc001dul.2_Silent_p.A873A|COL11A1_uc001dun.2_Silent_p.A834A|COL11A1_uc009weh.2_Silent_p.A757A	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	873	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.148148	7.082651	10.291154	4	23	KEEP	---	---	---	---	capture		Silent	SNP	103444652	103444652	3805	1	A	T	T	T	80	7	COL11A1	3	3
AMY1A	276	broad.mit.edu	37	1	104297234	104297234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:104297234G>A	uc001duy.2	+	c.992G>A	c.(991-993)TGG>TAG	p.W331*	AMY1A_uc001duz.2_Nonsense_Mutation_p.W331*	NM_001008221	NP_001008222	P04745	AMY1_HUMAN	salivary amylase alpha 1A precursor	331					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		Pancreas(131;743 2392 43382 44986)								0.108553	35.786874	81.920037	33	271	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	104297234	104297234	594	1	G	A	A	A	611	47	AMY1A	5	2
VAV3	10451	broad.mit.edu	37	1	108307697	108307697	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108307697C>A	uc010ouw.1	-	c.921_splice	c.e9+1	p.E307_splice	VAV3_uc001dvk.1_Splice_Site_SNP_p.E307_splice|VAV3_uc001dvl.1_Splice_Site_SNP_p.E131_splice|VAV3_uc010oux.1_Splice_Site_SNP_p.E307_splice	NM_006113	NP_006104			vav 3 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.1	2.095476	8.473115	4	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	108307697	108307697	17698	1	C	A	A	A	234	18	VAV3	5	2
AHCYL1	10768	broad.mit.edu	37	1	110561046	110561046	+	Missense_Mutation	SNP	G	A	A	rs34267468		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110561046G>A	uc001dyx.2	+	c.1175G>A	c.(1174-1176)TGT>TAT	p.C392Y	AHCYL1_uc010ovw.1_Missense_Mutation_p.C345Y|AHCYL1_uc001dyy.2_Missense_Mutation_p.C345Y|AHCYL1_uc010ovx.1_Missense_Mutation_p.C345Y	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	392	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)										0.16	4.660657	7.461243	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110561046	110561046	413	1	G	A	A	A	624	48	AHCYL1	2	2
KCNA10	3744	broad.mit.edu	37	1	111059903	111059903	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111059903C>A	uc001dzt.1	-	c.1507G>T	c.(1507-1509)GGC>TGC	p.G503C		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	503						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)										0.145833	12.514616	18.28583	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111059903	111059903	8307	1	C	A	A	A	273	21	KCNA10	2	2
MTOR	2475	broad.mit.edu	37	1	11264722	11264722	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11264722C>A	uc001asd.2	-	c.3840G>T	c.(3838-3840)TGG>TGT	p.W1280C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1280					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.272727	14.538507	15.564335	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11264722	11264722	10347	1	C	A	A	A	338	26	MTOR	2	2
DENND2C	163259	broad.mit.edu	37	1	115138455	115138455	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115138455C>A	uc001efd.1	-	c.2323G>T	c.(2323-2325)GAG>TAG	p.E775*	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Nonsense_Mutation_p.E718*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	775											0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.220339	26.016023	30.318725	13	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	115138455	115138455	4609	1	C	A	A	A	390	30	DENND2C	5	2
PTCHD2	57540	broad.mit.edu	37	1	11579514	11579514	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11579514C>A	uc001ash.3	+	c.1992C>A	c.(1990-1992)CCC>CCA	p.P664P	PTCHD2_uc001asi.1_Silent_p.P664P	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	664	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)										0.164286	40.961553	55.930654	23	117	KEEP	---	---	---	---	capture		Silent	SNP	11579514	11579514	13187	1	C	A	A	A	301	24	PTCHD2	2	2
IGSF3	3321	broad.mit.edu	37	1	117122231	117122231	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117122231A>G	uc001egq.1	-	c.3177T>C	c.(3175-3177)GAT>GAC	p.D1059D	IGSF3_uc001egr.1_Silent_p.D1039D	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	1039	Ig-like C2-type 8.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)										0.227273	11.058373	12.566672	5	17	KEEP	---	---	---	---	capture		Silent	SNP	117122231	117122231	7902	1	A	G	G	G	102	8	IGSF3	4	4
SPAG17	200162	broad.mit.edu	37	1	118548121	118548121	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118548121C>A	uc001ehk.2	-	c.4692G>T	c.(4690-4692)GAG>GAT	p.E1564D		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.159091	13.397365	18.268948	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118548121	118548121	15482	1	C	A	A	A	363	28	SPAG17	2	2
HSD3B2	3284	broad.mit.edu	37	1	119965140	119965140	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119965140A>G	uc001ehs.2	+	c.1016A>G	c.(1015-1017)TAT>TGT	p.Y339C	HSD3B2_uc001eht.2_Missense_Mutation_p.Y339C|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	339					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)									0.1875	12.932764	15.857771	6	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119965140	119965140	7686	1	A	G	G	G	208	16	HSD3B2	4	4
TNFRSF8	943	broad.mit.edu	37	1	12164553	12164553	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12164553C>T	uc001atq.2	+	c.386C>T	c.(385-387)TCT>TTT	p.S129F	TNFRSF8_uc010obc.1_Missense_Mutation_p.S18F	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	129	TNFR-Cys 3.|Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)						756				0.12	4.306474	7.848331	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12164553	12164553	16840	1	C	T	T	T	416	32	TNFRSF8	2	2
TAS1R3	83756	broad.mit.edu	37	1	1268367	1268367	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1268367G>T	uc010nyk.1	+	c.1342G>T	c.(1342-1344)GGA>TGA	p.G448*		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	448	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)									0.192308	7.841164	10.17404	5	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1268367	1268367	16086	1	G	T	T	T	507	39	TAS1R3	5	1
TCHH	7062	broad.mit.edu	37	1	152082419	152082419	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152082419G>C	uc001ezp.2	-	c.3274C>G	c.(3274-3276)CAG>GAG	p.Q1092E	TCHH_uc009wne.1_Missense_Mutation_p.Q1092E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1092	10 X 30 AA tandem repeats.|4-7.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.165289	40.961237	53.812037	20	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152082419	152082419	16226	1	G	C	C	C	598	46	TCHH	3	3
HRNR	388697	broad.mit.edu	37	1	152192704	152192704	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152192704G>T	uc001ezt.1	-	c.1401C>A	c.(1399-1401)CAC>CAA	p.H467Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	467					keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.166667	60.772666	80.438309	31	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152192704	152192704	7653	1	G	T	T	T	568	44	HRNR	2	2
FLG	2312	broad.mit.edu	37	1	152279701	152279701	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152279701G>T	uc001ezu.1	-	c.7661C>A	c.(7660-7662)TCA>TAA	p.S2554*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2554	Ser-rich.|Filaggrin 15.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.139344	48.560275	79.185978	34	210	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152279701	152279701	6160	1	G	T	T	T	585	45	FLG	5	2
FLG2	388698	broad.mit.edu	37	1	152328896	152328896	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328896G>C	uc001ezw.3	-	c.1366C>G	c.(1366-1368)CAT>GAT	p.H456D		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Filaggrin 2.|Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.23741	86.593467	95.292226	33	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152328896	152328896	6161	1	G	C	C	C	598	46	FLG2	3	3
CRNN	49860	broad.mit.edu	37	1	152382557	152382557	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152382557C>T	uc001ezx.2	-	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	334	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.128342	31.926214	57.051749	24	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152382557	152382557	4031	1	C	T	T	T	338	26	CRNN	2	2
LCE2A	353139	broad.mit.edu	37	1	152671565	152671565	+	Missense_Mutation	SNP	G	C	C	rs61812673		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152671565G>C	uc001faj.2	+	c.188G>C	c.(187-189)GGG>GCG	p.G63A		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	63	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.188889	30.983406	39.094481	17	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152671565	152671565	8988	1	G	C	C	C	559	43	LCE2A	3	3
CRTC2	200186	broad.mit.edu	37	1	153924738	153924738	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153924738G>A	uc010ped.1	-	c.753C>T	c.(751-753)AAC>AAT	p.N251N	CRTC2_uc001fde.3_Non-coding_Transcript|CRTC2_uc001fdf.3_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	251					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)	2	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.394737	39.605657	39.976928	15	23	KEEP	---	---	---	---	capture		Silent	SNP	153924738	153924738	4039	1	G	A	A	A	594	46	CRTC2	2	2
AQP10	89872	broad.mit.edu	37	1	154296832	154296832	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154296832A>T	uc001feu.2	+	c.782A>T	c.(781-783)CAG>CTG	p.Q261L	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	261	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)									OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.195122	38.581706	45.666191	16	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154296832	154296832	833	1	A	T	T	T	91	7	AQP10	3	3
KCNN3	3782	broad.mit.edu	37	1	154744567	154744567	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154744567G>T	uc001ffp.2	-	c.1332C>A	c.(1330-1332)AAC>AAA	p.N444K	KCNN3_uc001ffo.2_Missense_Mutation_p.N139K|KCNN3_uc009wox.1_Missense_Mutation_p.N444K	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	449						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)											0.184615	24.201979	30.378067	12	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154744567	154744567	8385	1	G	T	T	T	464	36	KCNN3	2	2
NES	10763	broad.mit.edu	37	1	156642662	156642662	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156642662C>A	uc001fpq.2	-	c.1318G>T	c.(1318-1320)GTC>TTC	p.V440F		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	440	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.132353	15.042934	23.956833	9	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156642662	156642662	10736	1	C	A	A	A	247	19	NES	1	1
FCRL5	83416	broad.mit.edu	37	1	157497686	157497686	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157497686C>A	uc001fqu.2	-	c.1682_splice	c.e9-1	p.V561_splice	FCRL5_uc009wsm.2_Splice_Site_SNP_p.V561_splice|FCRL5_uc010phv.1_Splice_Site_SNP_p.V561_splice|FCRL5_uc010phw.1_Splice_Site_SNP_p.V476_splice	NM_031281	NP_112571			Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.176471	25.464686	32.167509	12	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	157497686	157497686	6035	1	C	A	A	A	260	20	FCRL5	5	2
CTRC	11330	broad.mit.edu	37	1	15770036	15770036	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15770036G>A	uc001awi.1	+	c.479G>A	c.(478-480)TGG>TAG	p.W160*	CTRC_uc001awj.1_Nonsense_Mutation_p.W160*	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	160	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.208	58.781529	68.653868	26	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15770036	15770036	4186	1	G	A	A	A	611	47	CTRC	5	2
KIRREL	55243	broad.mit.edu	37	1	158064602	158064602	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158064602G>T	uc001frn.3	+	c.1966G>T	c.(1966-1968)GGC>TGC	p.G656C	KIRREL_uc010pib.1_Missense_Mutation_p.G556C|KIRREL_uc009wsq.2_Missense_Mutation_p.G492C|KIRREL_uc001fro.3_Missense_Mutation_p.G470C	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	656	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)													0.369565	43.661827	44.349674	17	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158064602	158064602	8636	1	G	T	T	T	559	43	KIRREL	2	2
CD1D	912	broad.mit.edu	37	1	158152753	158152753	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158152753A>T	uc001frr.2	+	c.693A>T	c.(691-693)CCA>CCT	p.P231P	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	231	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding|receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.121495	14.415374	29.42879	13	94	KEEP	---	---	---	---	capture		Silent	SNP	158152753	158152753	3104	1	A	T	T	T	54	5	CD1D	3	3
CD1C	911	broad.mit.edu	37	1	158261151	158261151	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158261151C>G	uc001fru.2	+	c.289C>G	c.(289-291)CGG>GGG	p.R97G	CD1C_uc001frv.2_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	97	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			ovary(2)|pancreas(1)	3	all_hematologic(112;0.0378)													0.179104	27.652477	34.160135	12	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158261151	158261151	3103	1	C	G	G	G	399	31	CD1C	3	3
CD1C	911	broad.mit.edu	37	1	158262139	158262139	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158262139G>A	uc001fru.2	+	c.594G>A	c.(592-594)ATG>ATA	p.M198I	CD1C_uc001frv.2_Missense_Mutation_p.M1I	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	198	Extracellular (Potential).				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.M198I(1)		ovary(2)|pancreas(1)	3	all_hematologic(112;0.0378)													0.156051	83.826601	119.251359	49	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158262139	158262139	3103	1	G	A	A	A	624	48	CD1C	2	2
CD1E	913	broad.mit.edu	37	1	158326382	158326382	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158326382G>T	uc001fse.2	+	c.998_splice	c.e5+1	p.S333_splice	CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Splice_Site_SNP|CD1E_uc001fsk.2_Splice_Site_SNP_p.S243_splice|CD1E_uc001fsj.2_Splice_Site_SNP_p.S188_splice|CD1E_uc001fsc.2_Splice_Site_SNP_p.S144_splice|CD1E_uc010pig.1_Splice_Site_SNP|CD1E_uc001fsa.2_Splice_Site_SNP_p.S89_splice|CD1E_uc001fsf.2_Splice_Site_SNP_p.S333_splice|CD1E_uc001fry.2_Splice_Site_SNP_p.S278_splice|CD1E_uc001fsg.2_Splice_Site_SNP|CD1E_uc001fsh.2_Splice_Site_SNP_p.S144_splice|CD1E_uc001fsi.2_Splice_Site_SNP|CD1E_uc009wsv.2_Splice_Site_SNP_p.S234_splice|CD1E_uc001frz.2_Splice_Site_SNP_p.S243_splice|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155			CD1E antigen isoform a precursor						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen					0	all_hematologic(112;0.0378)													0.170732	15.915175	20.105964	7	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	158326382	158326382	3105	1	G	T	T	T	572	44	CD1E	5	2
OR10T2	128360	broad.mit.edu	37	1	158368428	158368428	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158368428T>C	uc010pih.1	-	c.829A>G	c.(829-831)ACC>GCC	p.T277A		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.2	16.506186	19.435383	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158368428	158368428	11325	1	T	C	C	C	754	58	OR10T2	4	4
OR10R2	343406	broad.mit.edu	37	1	158450496	158450496	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158450496T>A	uc010pik.1	+	c.829T>A	c.(829-831)TTC>ATC	p.F277I		NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	277	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)	2	all_hematologic(112;0.0378)													0.111111	7.135784	15.18757	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158450496	158450496	11323	1	T	A	A	A	728	56	OR10R2	3	3
OR10Z1	128368	broad.mit.edu	37	1	158576328	158576328	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576328C>T	uc010pio.1	+	c.100C>T	c.(100-102)CTG>TTG	p.L34L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.152778	41.75435	58.367796	22	122	KEEP	---	---	---	---	capture		Silent	SNP	158576328	158576328	11329	1	C	T	T	T	415	32	OR10Z1	2	2
OR10Z1	128368	broad.mit.edu	37	1	158576605	158576605	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158576605T>C	uc010pio.1	+	c.377T>C	c.(376-378)ATC>ACC	p.I126T		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.154639	28.864761	39.979591	15	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158576605	158576605	11329	1	T	C	C	C	650	50	OR10Z1	4	4
SPTA1	6708	broad.mit.edu	37	1	158613118	158613118	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158613118A>T	uc001fst.1	-	c.4436T>A	c.(4435-4437)CTA>CAA	p.L1479Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1479	Spectrin 14.				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)													0.222222	25.95538	29.128507	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158613118	158613118	15630	1	A	T	T	T	195	15	SPTA1	3	3
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158615169G>C	uc001fst.1	-	c.4003C>G	c.(4003-4005)CGT>GGT	p.R1335G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335	Spectrin 13.				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)													0.104167	3.241018	10.72645	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158615169	158615169	15630	1	G	C	C	C	507	39	SPTA1	3	3
OR6K3	391114	broad.mit.edu	37	1	158687240	158687240	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687240A>T	uc010pip.1	-	c.714T>A	c.(712-714)ACT>ACA	p.T238T		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	238	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.275862	43.608239	46.21192	16	42	KEEP	---	---	---	---	capture		Silent	SNP	158687240	158687240	11613	1	A	T	T	T	80	7	OR6K3	3	3
OR6K3	391114	broad.mit.edu	37	1	158687470	158687470	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687470C>A	uc010pip.1	-	c.484G>T	c.(484-486)GCA>TCA	p.A162S		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.218391	45.566358	51.94097	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158687470	158687470	11613	1	C	A	A	A	325	25	OR6K3	2	2
OR6N1	128372	broad.mit.edu	37	1	158736408	158736408	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158736408C>T	uc010piq.1	-	c.65G>A	c.(64-66)GGT>GAT	p.G22D		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.258065	21.185438	22.829671	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158736408	158736408	11616	1	C	T	T	T	234	18	OR6N1	2	2
MNDA	4332	broad.mit.edu	37	1	158813156	158813156	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158813156C>A	uc001fsz.1	+	c.353C>A	c.(352-354)GCA>GAA	p.A118E		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	118					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.285714	19.139077	20.330239	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158813156	158813156	10067	1	C	A	A	A	325	25	MNDA	2	2
MNDA	4332	broad.mit.edu	37	1	158813815	158813815	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158813815C>A	uc001fsz.1	+	c.473C>A	c.(472-474)CCC>CAC	p.P158H		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	158					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.196078	40.861069	49.77587	20	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158813815	158813815	10067	1	C	A	A	A	286	22	MNDA	2	2
MNDA	4332	broad.mit.edu	37	1	158815621	158815621	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158815621C>A	uc001fsz.1	+	c.815C>A	c.(814-816)TCT>TAT	p.S272Y		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	272	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.205882	29.20938	34.668609	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158815621	158815621	10067	1	C	A	A	A	416	32	MNDA	2	2
OR10J3	441911	broad.mit.edu	37	1	159283942	159283942	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159283942A>T	uc010piu.1	-	c.508T>A	c.(508-510)TGT>AGT	p.C170S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.214286	19.204131	22.433143	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159283942	159283942	11317	1	A	T	T	T	91	7	OR10J3	3	3
CD244	51744	broad.mit.edu	37	1	160811393	160811393	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160811393C>A	uc009wtq.2	-	c.360G>T	c.(358-360)ACG>ACT	p.T120T	CD244_uc001fxa.2_Silent_p.T120T|CD244_uc009wtp.2_Non-coding_Transcript|CD244_uc009wtr.2_Silent_p.T120T|CD244_uc010pjt.1_Non-coding_Transcript	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	120	Extracellular (Potential).|Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.375	37.397467	37.834321	12	20	KEEP	---	---	---	---	capture		Silent	SNP	160811393	160811393	3115	1	C	A	A	A	236	19	CD244	1	1
APOA2	336	broad.mit.edu	37	1	161192794	161192794	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161192794C>G	uc001fzc.1	-	c.99G>C	c.(97-99)CTG>CTC	p.L33L	APOA2_uc001fzb.1_Intron	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	33					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity				0	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)											0.111111	8.111221	20.286182	9	72	KEEP	---	---	---	---	capture		Silent	SNP	161192794	161192794	793	1	C	G	G	G	262	21	APOA2	3	3
FCGR2A	2212	broad.mit.edu	37	1	161479613	161479613	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161479613G>A	uc001gan.2	+	c.368G>A	c.(367-369)TGG>TAG	p.W123*	FCGR2A_uc001gam.2_Nonsense_Mutation_p.W122*|FCGR2A_uc001gao.2_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	123	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.353535	104.648043	106.497214	35	64	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	161479613	161479613	6018	1	G	A	A	A	611	47	FCGR2A	5	2
FCGR2B	2213	broad.mit.edu	37	1	161641338	161641338	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161641338C>A	uc001gaz.1	+	c.290C>A	c.(289-291)CCC>CAC	p.P97H	FCGR2B_uc009wum.1_Missense_Mutation_p.P97H|FCGR2B_uc001gay.1_Missense_Mutation_p.P96H|FCGR2B_uc001gba.1_Missense_Mutation_p.P96H|FCGR2B_uc001gbb.1_Missense_Mutation_p.P97H|FCGR2B_uc009wun.1_Missense_Mutation_p.P90H	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	97	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)					318				0.111111	7.017033	17.724152	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161641338	161641338	6019	1	C	A	A	A	286	22	FCGR2B	2	2
ATF6	22926	broad.mit.edu	37	1	161736161	161736161	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161736161C>T	uc001gbr.2	+	c.11C>T	c.(10-12)CCG>CTG	p.P4L	ATF6_uc001gbq.1_Missense_Mutation_p.P4L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	4	Cytoplasmic (Potential).|Transcription activation.				positive regulation of gene-specific transcription involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)											0.230769	21.147599	23.751688	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161736161	161736161	1103	1	C	T	T	T	299	23	ATF6	1	1
PBX1	5087	broad.mit.edu	37	1	164789339	164789339	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:164789339C>G	uc001gct.2	+	c.1028C>G	c.(1027-1029)TCT>TGT	p.S343C	PBX1_uc010pku.1_Missense_Mutation_p.S343C|PBX1_uc010pkv.1_Missense_Mutation_p.S260C|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.S233C	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	343					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity		EWSR1/PBX1(3)	soft_tissue(3)	3									p.S343N(PATU8902-Tumor)	361				0.084746	1.925413	12.254975	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164789339	164789339	11912	1	C	G	G	G	416	32	PBX1	3	3
FAM78B	149297	broad.mit.edu	37	1	166039586	166039586	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166039586C>G	uc001gdr.2	-	c.678G>C	c.(676-678)ATG>ATC	p.M226I	FAM78B_uc010plc.1_Non-coding_Transcript|FAM78B_uc001gdq.2_Non-coding_Transcript	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	226										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.138614	16.337661	29.209914	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166039586	166039586	5853	1	C	G	G	G	273	21	FAM78B	3	3
DUSP27	92235	broad.mit.edu	37	1	167095342	167095342	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167095342G>C	uc001geb.1	+	c.974G>C	c.(973-975)AGT>ACT	p.S325T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	325					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.75	10.527628	10.753912	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167095342	167095342	5009	1	G	C	C	C	468	36	DUSP27	3	3
ADCY10	55811	broad.mit.edu	37	1	167793718	167793718	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167793718T>A	uc001ger.2	-	c.4048A>T	c.(4048-4050)AGC>TGC	p.S1350C	ADCY10_uc009wvj.2_Non-coding_Transcript|ADCY10_uc009wvk.2_Missense_Mutation_p.S1258C|ADCY10_uc010plj.1_Missense_Mutation_p.S1197C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1350					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.12426	30.589703	53.886244	21	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167793718	167793718	294	1	T	A	A	A	715	55	ADCY10	3	3
SFT2D2	375035	broad.mit.edu	37	1	168206008	168206008	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168206008G>T	uc001gfi.3	+	c.413G>T	c.(412-414)TGG>TTG	p.W138L	TBX19_uc001gfj.3_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	SFT2 domain containing 2	138	Helical; Name=4; (Potential).				protein transport|vesicle-mediated transport	integral to membrane					0	all_hematologic(923;0.215)													0.24	119.757168	132.060965	48	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168206008	168206008	14676	1	G	T	T	T	611	47	SFT2D2	2	2
F5	2153	broad.mit.edu	37	1	169510946	169510946	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169510946G>T	uc001ggg.1	-	c.3382C>A	c.(3382-3384)CAA>AAA	p.Q1128K		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1128	B.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.181818	38.335338	48.798105	20	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169510946	169510946	5542	1	G	T	T	T	585	45	F5	2	2
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169698749T>C	uc001ggm.3	-	c.781A>G	c.(781-783)AGC>GGC	p.S261G	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	261	Sushi 2.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)	3	all_hematologic(923;0.208)													0.182927	36.982571	44.71613	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169698749	169698749	14499	1	T	C	C	C	728	56	SELE	4	4
GORAB	92344	broad.mit.edu	37	1	170501310	170501310	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:170501310G>A	uc001gha.2	+	c.21G>A	c.(19-21)TTG>TTA	p.L7L	GORAB_uc009wvw.2_Silent_p.L7L|GORAB_uc001ggz.3_Silent_p.L7L|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	7						Golgi apparatus|nucleus					0														0.106061	3.304013	13.750157	7	59	KEEP	---	---	---	---	capture		Silent	SNP	170501310	170501310	6847	1	G	A	A	A	607	47	GORAB	2	2
BAT2L2	23215	broad.mit.edu	37	1	171560734	171560734	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171560734G>T	uc010pmg.1	+	c.8202G>T	c.(8200-8202)CAG>CAT	p.Q2734H	BAT2L2_uc010pmh.1_Missense_Mutation_p.Q1646H|BAT2L2_uc010pmi.1_Missense_Mutation_p.Q650H|BAT2L2_uc010pmj.1_Missense_Mutation_p.Q266H	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	2313							protein C-terminus binding				0														0.109375	7.088457	16.749628	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171560734	171560734	1342	1	G	T	T	T	425	33	BAT2L2	2	2
TNR	7143	broad.mit.edu	37	1	175334200	175334200	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175334200C>A	uc001gkp.1	-	c.2533G>T	c.(2533-2535)GTG>TTG	p.V845L	TNR_uc009wwu.1_Missense_Mutation_p.V845L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	845	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.101266	5.641335	18.17812	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175334200	175334200	16879	1	C	A	A	A	221	17	TNR	2	2
TNR	7143	broad.mit.edu	37	1	175372489	175372489	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175372489G>C	uc001gkp.1	-	c.763C>G	c.(763-765)CCC>GCC	p.P255A	TNR_uc009wwu.1_Missense_Mutation_p.P255A|TNR_uc010pmz.1_Missense_Mutation_p.P255A	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	255	EGF-like 3.|Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.081633	-0.311668	8.403458	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175372489	175372489	16879	1	G	C	C	C	546	42	TNR	3	3
PAPPA2	60676	broad.mit.edu	37	1	176709266	176709266	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176709266G>T	uc001gkz.2	+	c.4085G>T	c.(4084-4086)CGC>CTC	p.R1362L	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1362					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														0.3125	51.966178	53.975532	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176709266	176709266	11850	1	G	T	T	T	494	38	PAPPA2	1	1
SEC16B	89866	broad.mit.edu	37	1	177929539	177929539	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177929539C>A	uc001glj.1	-	c.940_splice	c.e13-1	p.V314_splice	SEC16B_uc001glk.1_De_novo_Start_OutOfFrame|SEC16B_uc001glh.1_De_novo_Start_InFrame|SEC16B_uc009wwz.1_Intron|SEC16B_uc001gli.1_Splice_Site_SNP_p.V313_splice|SEC16B_uc001gll.3_Splice_Site_SNP_p.V314_splice	NM_033127	NP_149118			leucine zipper transcription regulator 2						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4														0.454545	15.573694	15.593506	5	6	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	177929539	177929539	14473	1	C	A	A	A	312	24	SEC16B	5	2
C1orf125	126859	broad.mit.edu	37	1	179398751	179398751	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179398751C>A	uc001gmo.2	+	c.1329C>A	c.(1327-1329)AAC>AAA	p.N443K	C1orf125_uc009wxg.2_Non-coding_Transcript|C1orf125_uc001gmn.1_Missense_Mutation_p.N231K|C1orf125_uc010pnl.1_Non-coding_Transcript|C1orf125_uc001gmp.2_Missense_Mutation_p.N443K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	443											0														0.131579	6.65073	11.663558	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179398751	179398751	2060	1	C	A	A	A	220	17	C1orf125	2	2
TDRD5	163589	broad.mit.edu	37	1	179621306	179621306	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179621306T>C	uc010pnp.1	+	c.2134T>C	c.(2134-2136)TCA>CCA	p.S712P	TDRD5_uc001gnf.1_Missense_Mutation_p.S712P|TDRD5_uc001gnh.1_Missense_Mutation_p.S267P	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	712					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.156863	16.282409	22.002115	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179621306	179621306	16260	1	T	C	C	C	754	58	TDRD5	4	4
TDRD5	163589	broad.mit.edu	37	1	179659919	179659919	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179659919A>G	uc010pnp.1	+	c.2949A>G	c.(2947-2949)GTA>GTG	p.V983V	TDRD5_uc001gnf.1_Silent_p.V929V|TDRD5_uc001gnh.1_Silent_p.V484V	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	929					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.372881	64.290979	65.143204	22	37	KEEP	---	---	---	---	capture		Silent	SNP	179659919	179659919	16260	1	A	G	G	G	184	15	TDRD5	4	4
CEP350	9857	broad.mit.edu	37	1	179981084	179981084	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179981084A>G	uc001gnt.2	+	c.1267A>G	c.(1267-1269)ACA>GCA	p.T423A	CEP350_uc009wxl.2_Missense_Mutation_p.T422A|CEP350_uc001gnu.2_Missense_Mutation_p.T257A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	423						centrosome|nucleus|spindle				ovary(4)	4														0.2	7.71751	8.972105	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179981084	179981084	3387	1	A	G	G	G	182	14	CEP350	4	4
ACBD6	84320	broad.mit.edu	37	1	180257594	180257594	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180257594G>T	uc001gog.2	-	c.753C>A	c.(751-753)CCC>CCA	p.P251P		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	251	ANK 2.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1														0.1	2.903314	7.697098	3	27	KEEP	---	---	---	---	capture		Silent	SNP	180257594	180257594	127	1	G	T	T	T	600	47	ACBD6	2	2
IER5	51278	broad.mit.edu	37	1	181058930	181058930	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181058930G>T	uc001got.3	+	c.892G>T	c.(892-894)GGT>TGT	p.G298C		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	298										pancreas(1)	1														0.238095	12.670571	13.982188	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181058930	181058930	7808	1	G	T	T	T	507	39	IER5	1	1
CACNA1E	777	broad.mit.edu	37	1	181620524	181620524	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181620524C>T	uc001gow.2	+	c.1002C>T	c.(1000-1002)CTC>CTT	p.L334L	CACNA1E_uc009wxr.2_Silent_p.L241L|CACNA1E_uc009wxs.2_Silent_p.L241L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	334	I.|Helical; Name=S6 of repeat I.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.141176	20.14042	30.70153	12	73	KEEP	---	---	---	---	capture		Silent	SNP	181620524	181620524	2658	1	C	T	T	T	366	29	CACNA1E	2	2
CACNA1E	777	broad.mit.edu	37	1	181680202	181680202	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181680202G>C	uc001gow.2	+	c.1168G>C	c.(1168-1170)GCA>CCA	p.A390P	CACNA1E_uc009wxs.2_Missense_Mutation_p.A297P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	390	Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.098039	2.833764	11.088508	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181680202	181680202	2658	1	G	C	C	C	442	34	CACNA1E	3	3
RGL1	23179	broad.mit.edu	37	1	183895386	183895386	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183895386G>T	uc001gqm.2	+	c.2372G>T	c.(2371-2373)CGG>CTG	p.R791L	RGL1_uc010pog.1_Missense_Mutation_p.R754L|RGL1_uc010poh.1_Missense_Mutation_p.R754L|RGL1_uc001gqo.2_Missense_Mutation_p.R756L|RGL1_uc010poi.1_Missense_Mutation_p.R727L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	756					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.196721	26.263043	31.493036	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183895386	183895386	13749	1	G	T	T	T	507	39	RGL1	1	1
C1orf26	54823	broad.mit.edu	37	1	185143897	185143897	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185143897G>T	uc001grg.3	+	c.618G>T	c.(616-618)TGG>TGT	p.W206C	C1orf26_uc001grh.3_Missense_Mutation_p.W206C	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	206											0														0.272727	65.362646	69.988049	27	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185143897	185143897	2109	1	G	T	T	T	533	41	C1orf26	2	2
HMCN1	83872	broad.mit.edu	37	1	186084471	186084471	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186084471G>T	uc001grq.1	+	c.11486G>T	c.(11485-11487)GGG>GTG	p.G3829V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3829	Ig-like C2-type 37.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.135417	17.995227	30.412384	13	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186084471	186084471	7511	1	G	T	T	T	559	43	HMCN1	2	2
HMCN1	83872	broad.mit.edu	37	1	186113375	186113375	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186113375A>T	uc001grq.1	+	c.13995A>T	c.(13993-13995)ACA>ACT	p.T4665T	HMCN1_uc001grs.1_Silent_p.T234T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4665	TSP type-1 3.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.137681	29.556097	47.060604	19	119	KEEP	---	---	---	---	capture		Silent	SNP	186113375	186113375	7511	1	A	T	T	T	54	5	HMCN1	3	3
TPR	7175	broad.mit.edu	37	1	186308841	186308841	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186308841C>G	uc001grv.2	-	c.4084G>C	c.(4084-4086)GAA>CAA	p.E1362Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1362	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)						1949				0.113636	6.940732	13.421812	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186308841	186308841	16960	1	C	G	G	G	390	30	TPR	3	3
IGSF21	84966	broad.mit.edu	37	1	18661461	18661461	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18661461G>C	uc001bau.1	+	c.381G>C	c.(379-381)GAG>GAC	p.E127D		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	127	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)										0.148148	6.48335	9.691376	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18661461	18661461	7900	1	G	C	C	C	425	33	IGSF21	3	3
KLHDC7A	127707	broad.mit.edu	37	1	18808309	18808309	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18808309G>T	uc001bax.2	+	c.834G>T	c.(832-834)GCG>GCT	p.A278A	KLHDC7A_uc009vpg.2_Silent_p.A60A	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	278						integral to membrane				ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)										0.116505	17.379314	32.236699	12	91	KEEP	---	---	---	---	capture		Silent	SNP	18808309	18808309	8672	1	G	T	T	T	496	39	KLHDC7A	1	1
TAS1R2	80834	broad.mit.edu	37	1	19166166	19166166	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19166166A>G	uc001bba.1	-	c.2447T>C	c.(2446-2448)CTC>CCC	p.L816P		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	816	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)									0.125	5.805931	10.178042	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19166166	19166166	16085	1	A	G	G	G	143	11	TAS1R2	4	4
RGS1	5996	broad.mit.edu	37	1	192544930	192544930	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:192544930C>T	uc001gsi.1	+	c.8C>T	c.(7-9)GCA>GTA	p.A3V	RGS1_uc010pou.1_Missense_Mutation_p.A3V	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	3					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)												0.285714	36.045081	38.055138	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192544930	192544930	13766	1	C	T	T	T	325	25	RGS1	2	2
UBR4	23352	broad.mit.edu	37	1	19486754	19486754	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19486754G>C	uc001bbi.2	-	c.5428C>G	c.(5428-5430)CTC>GTC	p.L1810V	UBR4_uc001bbm.1_Missense_Mutation_p.L1021V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1810					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)										0.16	9.383561	12.135331	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19486754	19486754	17462	1	G	C	C	C	429	33	UBR4	3	3
UBR4	23352	broad.mit.edu	37	1	19513693	19513693	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19513693G>A	uc001bbi.2	-	c.1597C>T	c.(1597-1599)CTG>TTG	p.L533L		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	533					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)										0.2	16.327909	19.748317	8	32	KEEP	---	---	---	---	capture		Silent	SNP	19513693	19513693	17462	1	G	A	A	A	451	35	UBR4	2	2
CFH	3075	broad.mit.edu	37	1	196711029	196711029	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196711029G>T	uc001gtj.3	+	c.2981G>T	c.(2980-2982)AGC>ATC	p.S994I		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	994	Sushi 17.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.207547	25.395092	29.595023	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196711029	196711029	3416	1	G	T	T	T	442	34	CFH	2	2
CFHR4	10877	broad.mit.edu	37	1	196881879	196881879	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196881879C>G	uc001gtp.2	+	c.1007C>G	c.(1006-1008)TCA>TGA	p.S336*	CFHR4_uc001gto.2_Nonsense_Mutation_p.S89*|CFHR4_uc009wyy.2_Nonsense_Mutation_p.S335*	NM_006684	NM_006684	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	89	Sushi 2.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.090909	2.325497	7.869389	3	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196881879	196881879	3420	1	C	G	G	G	377	29	CFHR4	5	3
CFHR5	81494	broad.mit.edu	37	1	196965196	196965196	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196965196T>A	uc001gts.3	+	c.835T>A	c.(835-837)TAT>AAT	p.Y279N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	279	Sushi 5.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.142857	25.023849	40.620338	18	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196965196	196965196	3421	1	T	A	A	A	793	61	CFHR5	3	3
CFHR5	81494	broad.mit.edu	37	1	196967403	196967403	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196967403C>T	uc001gts.3	+	c.1116C>T	c.(1114-1116)AAC>AAT	p.N372N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	372	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.482759	44.651821	44.659112	14	15	KEEP	---	---	---	---	capture		Silent	SNP	196967403	196967403	3421	1	C	T	T	T	246	19	CFHR5	1	1
F13B	2165	broad.mit.edu	37	1	197024886	197024886	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197024886C>T	uc001gtt.1	-	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	438	Sushi 7.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.333333	72.737086	74.649425	26	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197024886	197024886	5535	1	C	T	T	T	247	19	F13B	1	1
F13B	2165	broad.mit.edu	37	1	197024935	197024935	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197024935C>A	uc001gtt.1	-	c.1264G>T	c.(1264-1266)GAA>TAA	p.E422*		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	422	Sushi 7.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.147541	14.443156	21.714254	9	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	197024935	197024935	5535	1	C	A	A	A	390	30	F13B	5	2
ASPM	259266	broad.mit.edu	37	1	197069979	197069979	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197069979G>A	uc001gtu.2	-	c.8402C>T	c.(8401-8403)TCT>TTT	p.S2801F	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.S649F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2801					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.134921	29.489316	45.765978	17	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197069979	197069979	1075	1	G	A	A	A	429	33	ASPM	2	2
CRB1	23418	broad.mit.edu	37	1	197398720	197398720	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197398720C>A	uc001gtz.2	+	c.2818C>A	c.(2818-2820)CAG>AAG	p.Q940K	CRB1_uc010poz.1_Missense_Mutation_p.Q916K|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.Q828K|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.Q421K|CRB1_uc001gub.1_Missense_Mutation_p.Q589K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	940	Extracellular (Potential).|EGF-like 14.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.078431	-0.341305	8.922267	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197398720	197398720	3987	1	C	A	A	A	273	21	CRB1	2	2
CRB1	23418	broad.mit.edu	37	1	197404326	197404326	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404326A>C	uc001gtz.2	+	c.3333A>C	c.(3331-3333)GAA>GAC	p.E1111D	CRB1_uc010poz.1_Missense_Mutation_p.E1087D|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Missense_Mutation_p.E999D|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.E592D|CRB1_uc001gub.1_Missense_Mutation_p.E760D	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1111	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.142857	25.913904	37.097217	13	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197404326	197404326	3987	1	A	C	C	C	11	1	CRB1	4	4
PTPRC	5788	broad.mit.edu	37	1	198668713	198668713	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198668713C>A	uc001gur.1	+	c.313C>A	c.(313-315)CCT>ACT	p.P105T	PTPRC_uc001gus.1_Missense_Mutation_p.P105T|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.P41T|PTPRC_uc009wzf.1_Missense_Mutation_p.P41T|PTPRC_uc010ppg.1_Missense_Mutation_p.P41T|PTPRC_uc001guu.1_Missense_Mutation_p.P148T|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	105	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815		OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.175258	31.147208	40.774434	17	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198668713	198668713	13254	1	C	A	A	A	338	26	PTPRC	2	2
HTR6	3362	broad.mit.edu	37	1	19992446	19992446	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19992446C>T	uc001bcl.2	+	c.200C>T	c.(199-201)TCG>TTG	p.S67L		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	67	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	Esophageal Squamous(168;1879 2619 6848 21062)								0.333333	12.969789	13.338904	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19992446	19992446	7751	1	C	T	T	T	403	31	HTR6	1	1
NAV1	89796	broad.mit.edu	37	1	201777167	201777167	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201777167A>G	uc001gwu.2	+	c.3726A>G	c.(3724-3726)ACA>ACG	p.T1242T	NAV1_uc001gwx.2_Silent_p.T851T|MIR1231_hsa-mir-1231|MI0006321_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1245					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.113636	4.929146	17.916143	10	78	KEEP	---	---	---	---	capture		Silent	SNP	201777167	201777167	10579	1	A	G	G	G	67	6	NAV1	4	4
NAV1	89796	broad.mit.edu	37	1	201779675	201779675	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201779675G>T	uc001gwu.2	+	c.4577G>T	c.(4576-4578)AGC>ATC	p.S1526I	NAV1_uc001gwx.2_Missense_Mutation_p.S1135I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1529					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(2)|ovary(1)	3														0.5	23.698409	23.698409	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201779675	201779675	10579	1	G	T	T	T	442	34	NAV1	2	2
LMOD1	25802	broad.mit.edu	37	1	201869655	201869655	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201869655C>A	uc001gxb.2	-	c.486G>T	c.(484-486)CGG>CGT	p.R162R	LMOD1_uc010ppu.1_Silent_p.R111R	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	162					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3														0.333333	67.978401	69.74845	24	48	KEEP	---	---	---	---	capture		Silent	SNP	201869655	201869655	9185	1	C	A	A	A	275	22	LMOD1	2	2
LRRN2	10446	broad.mit.edu	37	1	204587709	204587709	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204587709C>A	uc001hbe.1	-	c.1412G>T	c.(1411-1413)GGC>GTC	p.G471V	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.G471V|LRRN2_uc009xbf.1_Missense_Mutation_p.G471V|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	471	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)											0.125	5.755655	11.244936	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204587709	204587709	9411	1	C	A	A	A	338	26	LRRN2	2	2
TRAF3IP3	80342	broad.mit.edu	37	1	209951493	209951493	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209951493G>A	uc001hho.2	+	c.1227G>A	c.(1225-1227)CTG>CTA	p.L409L	TRAF3IP3_uc001hhl.2_Silent_p.L389L|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Silent_p.L389L|TRAF3IP3_uc009xcr.2_Silent_p.L409L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	409	Cytoplasmic (Potential).|Potential.					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)										0.131579	7.747473	12.761271	5	33	KEEP	---	---	---	---	capture		Silent	SNP	209951493	209951493	16986	1	G	A	A	A	600	47	TRAF3IP3	2	2
TRAF3IP3	80342	broad.mit.edu	37	1	209951495	209951495	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209951495T>A	uc001hho.2	+	c.1229T>A	c.(1228-1230)GTG>GAG	p.V410E	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.V390E|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.V390E|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.V410E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	410	Cytoplasmic (Potential).|Potential.					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)										0.128205	8.356675	13.601796	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209951495	209951495	16986	1	T	A	A	A	767	59	TRAF3IP3	3	3
SYT14	255928	broad.mit.edu	37	1	210267718	210267718	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210267718C>A	uc001hhs.3	+	c.629C>A	c.(628-630)CCA>CAA	p.P210Q	SYT14_uc001hht.3_Missense_Mutation_p.P165Q|SYT14_uc001hhu.3_Non-coding_Transcript|SYT14_uc010psn.1_Missense_Mutation_p.P210Q|SYT14_uc010pso.1_Missense_Mutation_p.P127Q|SYT14_uc009xcv.2_Missense_Mutation_p.P165Q	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 1	165	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)										0.16129	9.656113	13.038959	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210267718	210267718	15991	1	C	A	A	A	273	21	SYT14	2	2
HHAT	55733	broad.mit.edu	37	1	210577832	210577832	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210577832G>A	uc010psr.1	+	c.496G>A	c.(496-498)GAG>AAG	p.E166K	HHAT_uc009xcx.2_Missense_Mutation_p.E165K|HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Missense_Mutation_p.E165K|HHAT_uc010pss.1_Missense_Mutation_p.E120K|HHAT_uc009xcy.2_Missense_Mutation_p.E100K|HHAT_uc010pst.1_Missense_Mutation_p.E102K|HHAT_uc010psu.1_Missense_Mutation_p.E100K	NM_018194	NP_060664	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	165					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)										0.175	14.003635	17.986534	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210577832	210577832	7373	1	G	A	A	A	481	37	HHAT	1	1
HP1BP3	50809	broad.mit.edu	37	1	21071429	21071429	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21071429T>A	uc001bdw.1	-	c.1523A>T	c.(1522-1524)AAG>ATG	p.K508M	HP1BP3_uc001bdv.1_Missense_Mutation_p.K470M|HP1BP3_uc010odh.1_Missense_Mutation_p.K470M|HP1BP3_uc001bdy.1_Missense_Mutation_p.K508M|HP1BP3_uc010odf.1_Missense_Mutation_p.K167M|HP1BP3_uc010odg.1_Missense_Mutation_p.K356M	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	508	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)										0.181818	23.882809	30.143495	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21071429	21071429	7620	1	T	A	A	A	728	56	HP1BP3	3	3
NSL1	25936	broad.mit.edu	37	1	212911978	212911978	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:212911978C>T	uc001hjn.2	-	c.618G>A	c.(616-618)AGG>AGA	p.R206R	NSL1_uc001hjm.2_3'UTR|NSL1_uc010pti.1_Silent_p.R165R	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	NSL1, MIND kinetochore complex component isoform	206					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)										0.208791	45.681996	52.821227	19	72	KEEP	---	---	---	---	capture		Silent	SNP	212911978	212911978	11078	1	C	T	T	T	389	30	NSL1	2	2
VASH2	79805	broad.mit.edu	37	1	213134569	213134569	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:213134569C>A	uc001hjy.2	+	c.338C>A	c.(337-339)GCG>GAG	p.A113E	VASH2_uc001hju.2_Missense_Mutation_p.A113E|VASH2_uc001hjv.2_Non-coding_Transcript|VASH2_uc001hjx.2_Missense_Mutation_p.A48E|VASH2_uc010ptn.1_Missense_Mutation_p.A9E|VASH2_uc001hjw.2_Missense_Mutation_p.A113E	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN	vasohibin 2 isoform 3	113					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm					0				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)										0.158333	35.041752	48.357488	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	213134569	213134569	17691	1	C	A	A	A	351	27	VASH2	1	1
RPS6KC1	26750	broad.mit.edu	37	1	213415049	213415049	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:213415049C>A	uc010ptr.1	+	c.2230C>A	c.(2230-2232)CAT>AAT	p.H744N	RPS6KC1_uc001hkd.2_Missense_Mutation_p.H732N|RPS6KC1_uc010pts.1_Missense_Mutation_p.H532N|RPS6KC1_uc010ptt.1_Missense_Mutation_p.H532N|RPS6KC1_uc010ptu.1_Missense_Mutation_p.H563N|RPS6KC1_uc010ptv.1_Missense_Mutation_p.H279N|RPS6KC1_uc001hke.2_Missense_Mutation_p.H563N	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	744					cell communication|protein phosphorylation|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)						410				0.44	70.250348	70.405232	22	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	213415049	213415049	14138	1	C	A	A	A	221	17	RPS6KC1	2	2
USH2A	7399	broad.mit.edu	37	1	215956147	215956147	+	Silent	SNP	C	T	T	rs114719960	by1000genomes	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215956147C>T	uc001hku.1	-	c.10518G>A	c.(10516-10518)ACG>ACA	p.T3506T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3506	Extracellular (Potential).|Fibronectin type-III 20.				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)										0.147059	16.43598	24.549023	10	58	KEEP	---	---	---	---	capture		Silent	SNP	215956147	215956147	17598	1	C	T	T	T	236	19	USH2A	1	1
USH2A	7399	broad.mit.edu	37	1	215960131	215960131	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215960131T>A	uc001hku.1	-	c.10268A>T	c.(10267-10269)CAC>CTC	p.H3423L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3423	Fibronectin type-III 19.|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)										0.09434	1.656571	10.413395	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215960131	215960131	17598	1	T	A	A	A	767	59	USH2A	3	3
USH2A	7399	broad.mit.edu	37	1	216052364	216052364	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216052364G>T	uc001hku.1	-	c.8300C>A	c.(8299-8301)ACT>AAT	p.T2767N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2767	Fibronectin type-III 14.|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)										0.186813	39.419638	47.781456	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216052364	216052364	17598	1	G	T	T	T	468	36	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216420490	216420490	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216420490C>T	uc001hku.1	-	c.2246G>A	c.(2245-2247)TGT>TAT	p.C749Y	USH2A_uc001hkv.2_Missense_Mutation_p.C749Y	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	749	Laminin EGF-like 5.|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)										0.156522	29.021415	41.950239	18	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216420490	216420490	17598	1	C	T	T	T	221	17	USH2A	2	2
GPATCH2	55105	broad.mit.edu	37	1	217783678	217783678	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:217783678C>A	uc001hlf.1	-	c.1083G>T	c.(1081-1083)GGG>GGT	p.G361G	GPATCH2_uc001hlg.3_Silent_p.G361G	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	361						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)										0.193548	28.813578	36.991154	18	75	KEEP	---	---	---	---	capture		Silent	SNP	217783678	217783678	6865	1	C	A	A	A	379	30	GPATCH2	2	2
IARS2	55699	broad.mit.edu	37	1	220269552	220269552	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220269552G>T	uc001hmc.2	+	c.374G>T	c.(373-375)GGA>GTA	p.G125V		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	125	HIGH region (By similarity).				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)									0.166667	10.326083	14.120581	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220269552	220269552	7774	1	G	T	T	T	533	41	IARS2	2	2
USP48	84196	broad.mit.edu	37	1	22078012	22078012	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22078012C>A	uc010odq.1	-	c.762G>T	c.(760-762)TCG>TCT	p.S254S	USP48_uc001bfb.2_Silent_p.S254S|USP48_uc009vqc.2_Silent_p.S254S|USP48_uc001bfc.2_Silent_p.S254S|USP48_uc001bfe.1_Silent_p.S254S|USP48_uc001bff.2_Silent_p.S254S	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	254					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)										0.146552	33.805035	47.724117	17	99	KEEP	---	---	---	---	capture		Silent	SNP	22078012	22078012	17643	1	C	A	A	A	288	23	USP48	1	1
LDLRAD2	401944	broad.mit.edu	37	1	22142456	22142456	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22142456C>G	uc001bfg.1	+	c.532C>G	c.(532-534)CGC>GGC	p.R178G		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	178	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)										0.090909	3.568444	16.560032	7	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22142456	22142456	9030	1	C	G	G	G	299	23	LDLRAD2	3	3
DUSP10	11221	broad.mit.edu	37	1	221875811	221875811	+	Missense_Mutation	SNP	G	T	T	rs61757363		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:221875811G>T	uc001hmy.1	-	c.1392C>A	c.(1390-1392)AAC>AAA	p.N464K	DUSP10_uc001hmx.1_Missense_Mutation_p.N122K|DUSP10_uc001hmz.1_Missense_Mutation_p.N122K	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	464					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0				GBM - Glioblastoma multiforme(131;0.0103)										0.104046	17.994713	44.931777	18	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	221875811	221875811	4995	1	G	T	T	T	516	40	DUSP10	1	1
DUSP10	11221	broad.mit.edu	37	1	221912792	221912792	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:221912792C>A	uc001hmy.1	-	c.295G>T	c.(295-297)GCT>TCT	p.A99S	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	99					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0				GBM - Glioblastoma multiforme(131;0.0103)										0.323529	27.375286	28.336325	11	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	221912792	221912792	4995	1	C	A	A	A	351	27	DUSP10	1	1
SUSD4	55061	broad.mit.edu	37	1	223400986	223400986	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223400986G>T	uc001hnx.2	-	c.1011C>A	c.(1009-1011)GTC>GTA	p.V337V	SUSD4_uc001hny.3_Silent_p.V337V|SUSD4_uc010puw.1_Silent_p.V177V	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	337	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)										0.285714	19.988167	21.142246	8	20	KEEP	---	---	---	---	capture		Silent	SNP	223400986	223400986	15930	1	G	T	T	T	574	45	SUSD4	2	2
NUP133	55746	broad.mit.edu	37	1	229613447	229613447	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229613447C>T	uc001htn.2	-	c.1653G>A	c.(1651-1653)TTG>TTA	p.L551L		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	551					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.105263	2.973549	8.858227	4	34	KEEP	---	---	---	---	capture		Silent	SNP	229613447	229613447	11159	1	C	T	T	T	272	21	NUP133	2	2
TAF5L	27097	broad.mit.edu	37	1	229738095	229738095	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229738095A>T	uc001htq.2	-	c.819T>A	c.(817-819)ACT>ACA	p.T273T	TAF5L_uc001htr.2_Silent_p.T273T	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	273	WD 1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)												0.357143	56.860848	57.876883	20	36	KEEP	---	---	---	---	capture		Silent	SNP	229738095	229738095	16050	1	A	T	T	T	80	7	TAF5L	3	3
C1QC	714	broad.mit.edu	37	1	22973864	22973864	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22973864G>T	uc001bgc.3	+	c.326G>T	c.(325-327)GGT>GTT	p.G109V	C1QC_uc001bga.3_Missense_Mutation_p.G109V|C1QC_uc001bgb.2_Missense_Mutation_p.G109V	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	109	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	Ovarian(26;671 750 8290 29071 43278)								0.2	16.5041	19.434361	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22973864	22973864	2024	1	G	T	T	T	572	44	C1QC	2	2
EXOC8	149371	broad.mit.edu	37	1	231473215	231473215	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231473215C>G	uc001huq.2	-	c.277G>C	c.(277-279)GAG>CAG	p.E93Q	C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	93					exocytosis|protein transport	growth cone|nucleus	protein binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)												0.153846	12.126615	16.592765	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231473215	231473215	5504	1	C	G	G	G	403	31	EXOC8	3	3
SIPA1L2	57568	broad.mit.edu	37	1	232600887	232600887	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232600887T>A	uc001hvg.2	-	c.2519A>T	c.(2518-2520)AAG>ATG	p.K840M	SIPA1L2_uc001hvf.2_5'Flank	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	840					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.18018	42.529658	53.208554	20	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232600887	232600887	14825	1	T	A	A	A	728	56	SIPA1L2	3	3
LYST	1130	broad.mit.edu	37	1	235915417	235915417	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235915417T>C	uc001hxj.2	-	c.7515A>G	c.(7513-7515)ATA>ATG	p.I2505M	LYST_uc009xga.1_Missense_Mutation_p.I87M	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2505					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.15	11.626096	16.323523	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235915417	235915417	9505	1	T	C	C	C	680	53	LYST	4	4
LYST	1130	broad.mit.edu	37	1	235973489	235973489	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235973489G>A	uc001hxj.2	-	c.629C>T	c.(628-630)ACC>ATC	p.T210I	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.T210I	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	210					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.197452	66.937302	80.263971	31	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235973489	235973489	9505	1	G	A	A	A	572	44	LYST	2	2
HEATR1	55127	broad.mit.edu	37	1	236754225	236754225	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236754225C>G	uc001hyd.1	-	c.1452G>C	c.(1450-1452)ATG>ATC	p.M484I		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	484					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.24	18.633252	20.110813	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236754225	236754225	7310	1	C	G	G	G	325	25	HEATR1	3	3
NLRP3	114548	broad.mit.edu	37	1	247592911	247592911	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247592911C>A	uc001icr.2	+	c.2181C>A	c.(2179-2181)TCC>TCA	p.S727S	NLRP3_uc001ics.2_Silent_p.S727S|NLRP3_uc001icu.2_Silent_p.S727S|NLRP3_uc001icw.2_Intron|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.S725S	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	727					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.128571	26.315379	45.079459	18	122	KEEP	---	---	---	---	capture		Silent	SNP	247592911	247592911	10881	1	C	A	A	A	262	21	NLRP3	2	2
OR2G2	81470	broad.mit.edu	37	1	247751823	247751823	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247751823G>T	uc010pyy.1	+	c.162G>T	c.(160-162)CTG>CTT	p.L54L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.129213	28.643621	52.634576	23	155	KEEP	---	---	---	---	capture		Silent	SNP	247751823	247751823	11404	1	G	T	T	T	600	47	OR2G2	2	2
OR2G2	81470	broad.mit.edu	37	1	247752093	247752093	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752093C>A	uc010pyy.1	+	c.432C>A	c.(430-432)TGC>TGA	p.C144*		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	144	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.159341	56.574903	76.681327	29	153	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247752093	247752093	11404	1	C	A	A	A	324	25	OR2G2	5	2
OR2G2	81470	broad.mit.edu	37	1	247752523	247752523	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752523C>G	uc010pyy.1	+	c.862C>G	c.(862-864)CTT>GTT	p.L288V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.158824	52.701009	71.62169	27	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247752523	247752523	11404	1	C	G	G	G	364	28	OR2G2	3	3
OR2G3	81469	broad.mit.edu	37	1	247769067	247769067	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769067C>G	uc010pyz.1	+	c.180C>G	c.(178-180)TAC>TAG	p.Y60*		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.152344	80.515579	110.080892	39	217	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	247769067	247769067	11405	1	C	G	G	G	259	20	OR2G3	5	3
TRIM58	25893	broad.mit.edu	37	1	248039227	248039227	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248039227G>T	uc001ido.2	+	c.897G>T	c.(895-897)ACG>ACT	p.T299T	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	299	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.086207	0.183833	10.208974	5	53	KEEP	---	---	---	---	capture		Silent	SNP	248039227	248039227	17077	1	G	T	T	T	496	39	TRIM58	1	1
OR2AK2	391191	broad.mit.edu	37	1	248128964	248128964	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248128964G>T	uc010pzd.1	+	c.331G>T	c.(331-333)GGC>TGC	p.G111C	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.155172	45.116622	64.883878	27	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248128964	248128964	11392	1	G	T	T	T	559	43	OR2AK2	2	2
OR2M5	127059	broad.mit.edu	37	1	248309381	248309381	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248309381G>T	uc010pze.1	+	c.932G>T	c.(931-933)GGA>GTA	p.G311V		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.130435	8.031484	14.132469	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248309381	248309381	11419	1	G	T	T	T	533	41	OR2M5	2	2
OR2M2	391194	broad.mit.edu	37	1	248343360	248343360	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343360A>T	uc010pzf.1	+	c.73A>T	c.(73-75)ACG>TCG	p.T25S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.197115	86.985092	104.748494	41	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343360	248343360	11416	1	A	T	T	T	78	6	OR2M2	3	3
OR2M2	391194	broad.mit.edu	37	1	248343446	248343446	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343446C>G	uc010pzf.1	+	c.159C>G	c.(157-159)ACC>ACG	p.T53T		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.112319	29.741451	70.729293	31	245	KEEP	---	---	---	---	capture		Silent	SNP	248343446	248343446	11416	1	C	G	G	G	275	22	OR2M2	3	3
OR2M4	26245	broad.mit.edu	37	1	248402423	248402423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402423C>T	uc010pzh.1	+	c.193C>T	c.(193-195)CAA>TAA	p.Q65*		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.11811	12.509059	30.778875	15	112	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248402423	248402423	11418	1	C	T	T	T	377	29	OR2M4	5	2
OR2T6	254879	broad.mit.edu	37	1	248551230	248551230	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551230T>C	uc001iei.1	+	c.321T>C	c.(319-321)TTT>TTC	p.F107F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.176471	35.474513	43.858297	15	70	KEEP	---	---	---	---	capture		Silent	SNP	248551230	248551230	11435	1	T	C	C	C	790	61	OR2T6	4	4
OR2T1	26696	broad.mit.edu	37	1	248569919	248569919	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248569919C>A	uc010pzm.1	+	c.624C>A	c.(622-624)CTC>CTA	p.L208L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	208	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.145161	13.338824	20.845776	9	53	KEEP	---	---	---	---	capture		Silent	SNP	248569919	248569919	11422	1	C	A	A	A	379	30	OR2T1	2	2
OR2T1	26696	broad.mit.edu	37	1	248570181	248570181	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248570181A>C	uc010pzm.1	+	c.886A>C	c.(886-888)ACT>CCT	p.T296P		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	296	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.182692	43.176207	52.998809	19	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248570181	248570181	11422	1	A	C	C	C	130	10	OR2T1	4	4
OR2G6	391211	broad.mit.edu	37	1	248685080	248685080	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685080C>A	uc001ien.1	+	c.133C>A	c.(133-135)CTC>ATC	p.L45I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.15	21.092652	30.450862	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685080	248685080	11406	1	C	A	A	A	312	24	OR2G6	2	2
OR2T11	127077	broad.mit.edu	37	1	248789791	248789791	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248789791A>T	uc001ier.1	-	c.639T>A	c.(637-639)ACT>ACA	p.T213T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.163265	15.498691	20.754106	8	41	KEEP	---	---	---	---	capture		Silent	SNP	248789791	248789791	11424	1	A	T	T	T	28	3	OR2T11	3	3
OR2T27	403239	broad.mit.edu	37	1	248814155	248814155	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248814155C>A	uc010pzo.1	-	c.31G>T	c.(31-33)GAC>TAC	p.D11Y		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.096774	2.603166	7.652255	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248814155	248814155	11427	1	C	A	A	A	403	31	OR2T27	1	1
RUNX3	864	broad.mit.edu	37	1	25229066	25229066	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25229066G>C	uc009vrj.2	-	c.837C>G	c.(835-837)GAC>GAG	p.D279E	RUNX3_uc001bjq.2_Missense_Mutation_p.D265E|RUNX3_uc010oen.1_Missense_Mutation_p.D212E|RUNX3_uc001bjr.2_Missense_Mutation_p.D279E|RUNX3_uc001bjs.2_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 1	265	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)										0.3125	57.671739	59.678083	20	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25229066	25229066	14229	1	G	C	C	C	568	44	RUNX3	3	3
SEPN1	57190	broad.mit.edu	37	1	26140371	26140371	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26140371G>T	uc010oer.1	+	c.1388_splice	c.e14-1	p.G463_splice	SEPN1_uc010oes.1_Splice_Site_SNP_p.G429_splice	NM_020451	NP_065184			selenoprotein N, 1 isoform 1 precursor							endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)										0.253521	44.321291	48.233954	18	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26140371	26140371	14542	1	G	T	T	T	455	35	SEPN1	5	2
CNKSR1	10256	broad.mit.edu	37	1	26509049	26509049	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26509049G>A	uc001bln.3	+	c.598G>A	c.(598-600)GAG>AAG	p.E200K	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.3_Missense_Mutation_p.E200K|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	200	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			kidney(1)	1		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		NSCLC(180;1396 2109 28270 30756 34275)								0.2	14.332677	16.843847	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26509049	26509049	3744	1	G	A	A	A	481	37	CNKSR1	1	1
PIGV	55650	broad.mit.edu	37	1	27120928	27120928	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27120928C>T	uc001bmz.2	+	c.403C>T	c.(403-405)CAT>TAT	p.H135Y	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.H135Y|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.H135Y	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	135	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)										0.072727	-1.140372	9.185998	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27120928	27120928	12325	1	C	T	T	T	377	29	PIGV	2	2
ACTRT2	140625	broad.mit.edu	37	1	2939307	2939307	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2939307A>T	uc001ajz.2	+	c.1057A>T	c.(1057-1059)AGC>TGC	p.S353C		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	353						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)										0.222222	60.394799	68.695592	26	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2939307	2939307	220	1	A	T	T	T	195	15	ACTRT2	3	3
TSSK3	81629	broad.mit.edu	37	1	32829695	32829695	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32829695C>T	uc001bvf.2	+	c.645C>T	c.(643-645)ATC>ATT	p.I215I		NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	215	Protein kinase.				cell differentiation|multicellular organismal development|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)								55				0.216216	58.043241	66.287346	24	87	KEEP	---	---	---	---	capture		Silent	SNP	32829695	32829695	17223	1	C	T	T	T	382	30	TSSK3	2	2
KIAA1522	57648	broad.mit.edu	37	1	33236143	33236143	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33236143C>A	uc001bvu.1	+	c.1363C>A	c.(1363-1365)CCC>ACC	p.P455T	KIAA1522_uc010ohm.1_Missense_Mutation_p.P407T|KIAA1522_uc001bvv.2_Missense_Mutation_p.P396T|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	396	Ser-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)												0.25	10.326156	11.70204	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33236143	33236143	8547	1	C	A	A	A	390	30	KIAA1522	2	2
RLF	6018	broad.mit.edu	37	1	40701547	40701547	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40701547G>T	uc001cfc.3	+	c.1173G>T	c.(1171-1173)AAG>AAT	p.K391N	RLF_uc001cfd.3_Missense_Mutation_p.K82N	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	391					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)											0.186441	23.853257	29.240183	11	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40701547	40701547	13866	1	G	T	T	T	451	35	RLF	2	2
HIVEP3	59269	broad.mit.edu	37	1	42047512	42047512	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42047512C>A	uc001cgz.3	-	c.2957G>T	c.(2956-2958)CGA>CTA	p.R986L	HIVEP3_uc001cha.3_Missense_Mutation_p.R986L|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	986	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.223881	37.305469	41.989928	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42047512	42047512	7479	1	C	A	A	A	403	31	HIVEP3	1	1
EBNA1BP2	10969	broad.mit.edu	37	1	43637772	43637772	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43637772G>A	uc010ojx.1	-	c.183C>T	c.(181-183)CTC>CTT	p.L61L	EBNA1BP2_uc001cio.2_Silent_p.L61L|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc001cin.2_Silent_p.L6L|EBNA1BP2_uc010ojy.1_5'Flank	NM_001159936	NP_001153408	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 1	6					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.2	11.860792	13.953337	5	20	KEEP	---	---	---	---	capture		Silent	SNP	43637772	43637772	5072	1	G	A	A	A	418	33	EBNA1BP2	2	2
CYP4B1	1580	broad.mit.edu	37	1	47283692	47283692	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47283692C>G	uc001cqn.3	+	c.1263C>G	c.(1261-1263)CCC>CCG	p.P421P	CYP4B1_uc001cqm.3_Silent_p.P420P|CYP4B1_uc009vym.2_Silent_p.P406P|CYP4B1_uc010omk.1_Silent_p.P257P	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	420					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.186567	50.047471	62.376677	25	109	KEEP	---	---	---	---	capture		Silent	SNP	47283692	47283692	4350	1	C	G	G	G	288	23	CYP4B1	3	3
TAL1	6886	broad.mit.edu	37	1	47685674	47685674	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47685674G>T	uc001cqx.2	-	c.714C>A	c.(712-714)TTC>TTA	p.F238L	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.F238L	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	238	Helix-loop-helix motif.				cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0										17				0.146341	9.822411	14.751903	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47685674	47685674	16062	1	G	T	T	T	425	33	TAL1	2	2
KTI12	112970	broad.mit.edu	37	1	52498521	52498521	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52498521C>A	uc001ctj.1	-	c.913G>T	c.(913-915)GAG>TAG	p.E305*	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	305							ATP binding			central_nervous_system(2)	2														0.183908	30.255536	38.409295	16	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52498521	52498521	8907	1	C	A	A	A	416	32	KTI12	5	2
C1orf175	374977	broad.mit.edu	37	1	55148376	55148376	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55148376G>C	uc010ooe.1	+	c.2429G>C	c.(2428-2430)TGT>TCT	p.C810S	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc010ooc.1_Missense_Mutation_p.C378S|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_Missense_Mutation_p.C328S|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc010oog.1_Missense_Mutation_p.C810S|C1orf175_uc010ooh.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzr.1_Missense_Mutation_p.C12S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	810						integral to membrane	binding				0														0.228916	50.601688	56.182316	19	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55148376	55148376	2083	1	G	C	C	C	624	48	C1orf175	3	3
DHCR24	1718	broad.mit.edu	37	1	55319740	55319740	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55319740C>G	uc001cyc.1	-	c.1188G>C	c.(1186-1188)CAG>CAC	p.Q396H	DHCR24_uc010ooi.1_Missense_Mutation_p.Q39H|DHCR24_uc010ooj.1_Missense_Mutation_p.Q210H|DHCR24_uc010ook.1_Missense_Mutation_p.Q355H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	396					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|oxidation-reduction process|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						Pancreas(39;516 1021 24601 30715 32780)								0.25	9.090854	10.001167	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55319740	55319740	4655	1	C	G	G	G	311	24	DHCR24	3	3
INADL	10207	broad.mit.edu	37	1	62293239	62293239	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62293239C>G	uc001dab.2	+	c.1964C>G	c.(1963-1965)TCT>TGT	p.S655C	INADL_uc009waf.1_Missense_Mutation_p.S655C|INADL_uc001daa.2_Missense_Mutation_p.S655C|INADL_uc001dad.3_Missense_Mutation_p.S352C|INADL_uc001dac.2_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	655					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.189873	33.546602	40.70139	15	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62293239	62293239	8032	1	C	G	G	G	416	32	INADL	3	3
ROR1	4919	broad.mit.edu	37	1	64515413	64515413	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:64515413G>T	uc001dbj.2	+	c.214G>T	c.(214-216)GGC>TGC	p.G72C	ROR1_uc001dbi.3_Missense_Mutation_p.G72C	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	72	Ig-like C2-type.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.190476	32.060861	39.587043	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64515413	64515413	14005	1	G	T	T	T	559	43	ROR1	2	2
IL12RB2	3595	broad.mit.edu	37	1	67861345	67861345	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67861345C>G	uc001ddu.2	+	c.2162C>G	c.(2161-2163)CCC>CGC	p.P721R	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_Non-coding_Transcript|IL12RB2_uc010oql.1_Missense_Mutation_p.P635R|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	721	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3														0.185185	13.027306	15.483361	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67861345	67861345	7928	1	C	G	G	G	286	22	IL12RB2	3	3
LRRC7	57554	broad.mit.edu	37	1	70541879	70541879	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70541879G>T	uc001dep.2	+	c.4236G>T	c.(4234-4236)TTG>TTT	p.L1412F	LRRC7_uc009wbg.2_Missense_Mutation_p.L696F|LRRC7_uc001deq.2_Missense_Mutation_p.L606F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1412						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.166667	23.182643	30.135653	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70541879	70541879	9396	1	G	T	T	T	594	46	LRRC7	2	2
C1orf173	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037806C>G	uc001dgg.2	-	c.3588G>C	c.(3586-3588)CTG>CTC	p.L1196L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1196	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.1	13.66528	36.024803	14	126	KEEP	---	---	---	---	capture		Silent	SNP	75037806	75037806	2081	1	C	G	G	G	210	17	C1orf173	3	3
C1orf173	127254	broad.mit.edu	37	1	75072430	75072430	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75072430G>T	uc001dgg.2	-	c.1344C>A	c.(1342-1344)AAC>AAA	p.N448K	C1orf173_uc001dgi.3_Missense_Mutation_p.N242K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	448	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.158621	45.439889	61.538859	23	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75072430	75072430	2081	1	G	T	T	T	620	48	C1orf173	2	2
TYW3	127253	broad.mit.edu	37	1	75229748	75229748	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75229748A>T	uc001dgn.2	+	c.731A>T	c.(730-732)GAT>GTT	p.D244V	TYW3_uc010oqw.1_Missense_Mutation_p.D211V|TYW3_uc010oqx.1_Missense_Mutation_p.D160V|TYW3_uc010oqy.1_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	244					tRNA processing		methyltransferase activity			ovary(2)	2														0.078947	0.693198	14.450834	6	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75229748	75229748	17377	1	A	T	T	T	156	12	TYW3	3	3
ST6GALNAC3	256435	broad.mit.edu	37	1	76779596	76779596	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:76779596A>T	uc001dhh.2	+	c.125A>T	c.(124-126)CAA>CTA	p.Q42L	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.Q42L|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	42	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)	3														0.140625	13.06658	21.018763	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76779596	76779596	15743	1	A	T	T	T	65	5	ST6GALNAC3	3	3
CAMTA1	23261	broad.mit.edu	37	1	7737720	7737720	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7737720G>T	uc001aoi.2	+	c.2841G>T	c.(2839-2841)TCG>TCT	p.S947S	CAMTA1_uc010nzv.1_Silent_p.S34S|CAMTA1_uc001aok.3_5'Flank	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	947	IPT/TIG.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.172414	30.77263	39.591766	15	72	KEEP	---	---	---	---	capture		Silent	SNP	7737720	7737720	2730	1	G	T	T	T	496	39	CAMTA1	1	1
LPHN2	23266	broad.mit.edu	37	1	82416772	82416772	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82416772T>C	uc001dit.3	+	c.1563T>C	c.(1561-1563)TGT>TGC	p.C521C	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.C521C|LPHN2_uc001div.2_Silent_p.C521C|LPHN2_uc009wcd.2_Silent_p.C521C|LPHN2_uc001diw.2_Silent_p.C92C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	521	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.118421	6.781664	17.849732	9	67	KEEP	---	---	---	---	capture		Silent	SNP	82416772	82416772	9289	1	T	C	C	C	738	57	LPHN2	4	4
SLC45A1	50651	broad.mit.edu	37	1	8397904	8397904	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8397904C>T	uc001apb.2	+	c.1626C>T	c.(1624-1626)CTC>CTT	p.L542L	SLC45A1_uc001apc.2_Silent_p.L240L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	542	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)	3	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)										0.126214	19.904314	33.947719	13	90	KEEP	---	---	---	---	capture		Silent	SNP	8397904	8397904	15137	1	C	T	T	T	405	32	SLC45A1	2	2
TTLL7	79739	broad.mit.edu	37	1	84394841	84394841	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84394841C>A	uc001djc.2	-	c.1120G>T	c.(1120-1122)GCG>TCG	p.A374S	TTLL7_uc001djb.2_Non-coding_Transcript|TTLL7_uc001djd.2_Non-coding_Transcript|TTLL7_uc001dje.2_Non-coding_Transcript|TTLL7_uc001djf.2_Non-coding_Transcript|TTLL7_uc001djg.2_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	374	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)										0.12766	9.322443	15.669709	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84394841	84394841	17287	1	C	A	A	A	325	25	TTLL7	2	2
LPAR3	23566	broad.mit.edu	37	1	85331308	85331308	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85331308C>A	uc001dkl.2	-	c.496G>T	c.(496-498)GGC>TGC	p.G166C	LPAR3_uc009wcj.1_Missense_Mutation_p.G166C	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	166	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				ovary(2)	2														0.186047	45.088628	57.063818	24	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85331308	85331308	9279	1	C	A	A	A	286	22	LPAR3	2	2
COL24A1	255631	broad.mit.edu	37	1	86591549	86591549	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86591549C>A	uc001dlj.2	-	c.470G>T	c.(469-471)AGT>ATT	p.S157I	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript|COL24A1_uc009wcq.2_Missense_Mutation_p.S157I	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	157	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.3125	29.038028	30.039679	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86591549	86591549	3821	1	C	A	A	A	260	20	COL24A1	2	2
GBP4	115361	broad.mit.edu	37	1	89655791	89655791	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89655791C>T	uc001dnb.2	-	c.1127G>A	c.(1126-1128)AGG>AAG	p.R376K		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	376						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)										0.105263	3.971643	9.857336	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89655791	89655791	6542	1	C	T	T	T	312	24	GBP4	2	2
KLHL17	339451	broad.mit.edu	37	1	897302	897302	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:897302G>T	uc001aca.1	+	c.586G>T	c.(586-588)GGT>TGT	p.G196C	NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_Missense_Mutation_p.G72C|KLHL17_uc010nya.1_Missense_Mutation_p.G72C|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	196	BACK.					cell junction|postsynaptic density|postsynaptic membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)										0.1	2.535927	10.533492	5	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	897302	897302	8684	1	G	T	T	T	559	43	KLHL17	2	2
CDC7	8317	broad.mit.edu	37	1	91989846	91989846	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91989846G>A	uc001doe.2	+	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K	CDC7_uc001dof.2_Missense_Mutation_p.E527K|CDC7_uc010osw.1_Missense_Mutation_p.E499K|CDC7_uc009wdc.2_Missense_Mutation_p.E527K|CDC7_uc009wdd.2_Missense_Mutation_p.E170K	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	527	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|protein phosphorylation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)						154				0.149606	33.147505	48.095689	19	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91989846	91989846	3213	1	G	A	A	A	585	45	CDC7	2	2
BTBD8	284697	broad.mit.edu	37	1	92554427	92554427	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92554427G>C	uc001doo.2	+	c.322G>C	c.(322-324)GCT>CCT	p.A108P	BTBD8_uc010otc.1_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	108	BTB 1.					nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)										0.305556	35.213063	36.426191	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92554427	92554427	1581	1	G	C	C	C	442	34	BTBD8	3	3
DNTTIP2	30836	broad.mit.edu	37	1	94341979	94341979	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94341979G>A	uc001dqf.2	-	c.1512C>T	c.(1510-1512)TAC>TAT	p.Y504Y	DNTTIP2_uc010otm.1_Non-coding_Transcript	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)										0.266667	12.093223	12.830803	4	11	KEEP	---	---	---	---	capture		Silent	SNP	94341979	94341979	4865	1	G	A	A	A	464	36	DNTTIP2	2	2
ABCA4	24	broad.mit.edu	37	1	94463473	94463473	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94463473G>T	uc001dqh.2	-	c.6673C>A	c.(6673-6675)CAC>AAC	p.H2225N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2225	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|central_nervous_system(2)|breast(1)	7		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.142857	7.550741	11.853689	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94463473	94463473	35	1	G	T	T	T	611	47	ABCA4	2	2
DPYD	1806	broad.mit.edu	37	1	97658654	97658654	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97658654C>A	uc001drv.2	-	c.2593G>T	c.(2593-2595)GTT>TTT	p.V865F		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	865					'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|breast(2)	5		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)					533				0.222222	25.125997	28.320049	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97658654	97658654	4929	1	C	A	A	A	260	20	DPYD	2	2
AGRN	375790	broad.mit.edu	37	1	979000	979000	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:979000G>A	uc001ack.1	+	c.1686G>A	c.(1684-1686)TTG>TTA	p.L562L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	562	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)										0.181818	16.188932	20.362764	8	36	KEEP	---	---	---	---	capture		Silent	SNP	979000	979000	400	1	G	A	A	A	607	47	AGRN	2	2
DPYD	1806	broad.mit.edu	37	1	98015157	98015157	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:98015157C>T	uc001drv.2	-	c.1483G>A	c.(1483-1485)GAT>AAT	p.D495N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	495					'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|breast(2)	5		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)					533				0.207792	35.86385	41.950691	16	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98015157	98015157	4929	1	C	T	T	T	377	29	DPYD	2	2
PCSK2	5126	broad.mit.edu	37	20	17434420	17434420	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:17434420G>T	uc002wpm.2	+	c.919G>T	c.(919-921)GCC>TCC	p.A307S	PCSK2_uc002wpl.2_Missense_Mutation_p.A288S|PCSK2_uc010zrm.1_Missense_Mutation_p.A272S	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	307	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)									0.186047	12.513899	16.468215	8	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17434420	17434420	12022	20	G	T	T	T	546	42	PCSK2	2	2
DEFB118	117285	broad.mit.edu	37	20	29960763	29960763	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:29960763C>G	uc002wvr.2	+	c.162C>G	c.(160-162)TGC>TGG	p.C54W		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	beta-defensin 118 precursor	54					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				ovary(3)|pancreas(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)											0.26087	50.595876	54.18797	18	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29960763	29960763	4583	20	C	G	G	G	363	28	DEFB118	3	3
XKR7	343702	broad.mit.edu	37	20	30556125	30556125	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30556125G>C	uc002wxe.2	+	c.147G>C	c.(145-147)GGG>GGC	p.G49G		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	49						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.272727	7.72261	8.233215	3	8	KEEP	---	---	---	---	capture		Silent	SNP	30556125	30556125	18017	20	G	C	C	C	535	42	XKR7	3	3
PLAGL2	5326	broad.mit.edu	37	20	30789751	30789751	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30789751C>T	uc002wxn.2	-	c.231G>A	c.(229-231)AAG>AAA	p.K77K		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	77	C2H2-type 1.				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)								0.160714	17.95309	24.077541	9	47	KEEP	---	---	---	---	capture		Silent	SNP	30789751	30789751	12446	20	C	T	T	T	311	24	PLAGL2	2	2
COMMD7	149951	broad.mit.edu	37	20	31292637	31292637	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31292637C>A	uc002wyb.2	-	c.406G>T	c.(406-408)GAT>TAT	p.D136Y	COMMD7_uc002wya.3_Missense_Mutation_p.D136Y|COMMD7_uc010ged.2_Missense_Mutation_p.D135Y	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	136	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1														0.087719	1.833207	11.63113	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31292637	31292637	3859	20	C	A	A	A	416	32	COMMD7	2	2
COMMD7	149951	broad.mit.edu	37	20	31294522	31294522	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31294522C>T	uc002wyb.2	-	c.282G>A	c.(280-282)GCG>GCA	p.A94A	COMMD7_uc002wya.3_Silent_p.A94A|COMMD7_uc010ged.2_Silent_p.A93A	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	94					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1														0.222222	19.590218	22.139012	8	28	KEEP	---	---	---	---	capture		Silent	SNP	31294522	31294522	3859	20	C	T	T	T	288	23	COMMD7	1	1
BPIL1	80341	broad.mit.edu	37	20	31601738	31601738	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31601738C>A	uc002wyj.2	+	c.431C>A	c.(430-432)GCC>GAC	p.A144D		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	144						extracellular region	lipid binding			large_intestine(1)|ovary(1)	2														0.238095	12.191136	13.48886	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31601738	31601738	1519	20	C	A	A	A	338	26	BPIL1	2	2
C20orf186	149954	broad.mit.edu	37	20	31671451	31671451	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31671451C>A	uc010zue.1	+	c.448C>A	c.(448-450)CGA>AGA	p.R150R		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	150	Gly-rich.					cytoplasm|extracellular region	lipid binding				0														0.162791	10.620141	15.274714	7	36	KEEP	---	---	---	---	capture		Silent	SNP	31671451	31671451	2176	20	C	A	A	A	347	27	C20orf186	1	1
GGT7	2686	broad.mit.edu	37	20	33440034	33440034	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33440034G>A	uc002xay.2	-	c.1511C>T	c.(1510-1512)TCG>TTG	p.S504L	GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S521L	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	504	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1														0.235294	18.584286	20.763164	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33440034	33440034	6632	20	G	A	A	A	481	37	GGT7	1	1
ERGIC3	51614	broad.mit.edu	37	20	34144838	34144838	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34144838A>G	uc002xcu.2	+	c.1019A>G	c.(1018-1020)TAT>TGT	p.Y340C	ERGIC3_uc002xcs.2_Missense_Mutation_p.Y330C|ERGIC3_uc002xct.2_Missense_Mutation_p.Y325C|ERGIC3_uc002xcv.2_Missense_Mutation_p.Y288C	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	325	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)	2	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)											0.081633	0.563409	9.297884	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34144838	34144838	5418	20	A	G	G	G	208	16	ERGIC3	4	4
C20orf152	140894	broad.mit.edu	37	20	34611601	34611601	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34611601G>A	uc002xer.1	+	c.1335G>A	c.(1333-1335)TTG>TTA	p.L445L	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	hypothetical protein LOC140894	449											0	Breast(12;0.00631)													0.205882	32.6333	38.071895	14	54	KEEP	---	---	---	---	capture		Silent	SNP	34611601	34611601	2169	20	G	A	A	A	581	45	C20orf152	2	2
EPB41L1	2036	broad.mit.edu	37	20	34797560	34797560	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34797560A>G	uc010gfq.2	+	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G	EPB41L1_uc002xeu.2_Missense_Mutation_p.S533G|EPB41L1_uc010zvo.1_Missense_Mutation_p.S607G|EPB41L1_uc002xev.2_Missense_Mutation_p.S607G|EPB41L1_uc002xew.2_Missense_Mutation_p.S498G|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.S533G|EPB41L1_uc002xfb.2_Missense_Mutation_p.S607G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	607					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.185185	8.663428	11.170433	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34797560	34797560	5345	20	A	G	G	G	91	7	EPB41L1	4	4
C20orf132	140699	broad.mit.edu	37	20	35740727	35740727	+	Silent	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35740727A>G	uc010zvu.1	-	c.2844T>C	c.(2842-2844)TTT>TTC	p.F948F	C20orf132_uc002xgk.2_Silent_p.F570F	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)												0.153846	18.807343	26.254788	10	55	KEEP	---	---	---	---	capture		Silent	SNP	35740727	35740727	2163	20	A	G	G	G	63	5	C20orf132	4	4
TOP1	7150	broad.mit.edu	37	20	39721125	39721125	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39721125C>A	uc002xjl.2	+	c.628C>A	c.(628-630)CGC>AGC	p.R210S	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	210					DNA topological change|DNA unwinding involved in replication|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)					252				0.214286	27.59078	31.798585	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39721125	39721125	16905	20	C	A	A	A	351	27	TOP1	1	1
IFT52	51098	broad.mit.edu	37	20	42242616	42242616	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42242616G>T	uc002xkw.2	+	c.612G>T	c.(610-612)AAG>AAT	p.K204N	IFT52_uc010zwi.1_Non-coding_Transcript|IFT52_uc002xky.2_Missense_Mutation_p.K204N|IFT52_uc002xkx.2_Non-coding_Transcript|IFT52_uc010ggn.2_Missense_Mutation_p.K180N|IFT52_uc002xkz.2_Missense_Mutation_p.K204N	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	204						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)											0.20339	27.26672	32.086111	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42242616	42242616	7862	20	G	T	T	T	451	35	IFT52	2	2
TOX2	84969	broad.mit.edu	37	20	42635430	42635430	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42635430A>T	uc010ggo.2	+	c.409A>T	c.(409-411)ACG>TCG	p.T137S	TOX2_uc002xle.3_Missense_Mutation_p.T95S|TOX2_uc010ggp.2_Missense_Mutation_p.T95S|TOX2_uc002xlf.3_Missense_Mutation_p.T146S|TOX2_uc002xlg.2_Missense_Mutation_p.T95S	NM_001098797	NP_001092267	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)											0.235294	9.994711	11.081762	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42635430	42635430	16920	20	A	T	T	T	78	6	TOX2	3	3
ZNF335	63925	broad.mit.edu	37	20	44596133	44596133	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44596133C>T	uc002xqw.2	-	c.955G>A	c.(955-957)GAG>AAG	p.E319K	ZNF335_uc010zxk.1_Missense_Mutation_p.E164K|ZNF335_uc002xqx.1_Missense_Mutation_p.E287K|ZNF335_uc002xqy.2_Missense_Mutation_p.G164S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.18	18.146614	22.961052	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44596133	44596133	18444	20	C	T	T	T	286	22	ZNF335	2	2
MMP9	4318	broad.mit.edu	37	20	44641127	44641127	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44641127C>A	uc002xqz.2	+	c.1236C>A	c.(1234-1236)TCC>TCA	p.S412S		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	412					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)					462				0.125	8.873819	17.655577	8	56	KEEP	---	---	---	---	capture		Silent	SNP	44641127	44641127	10060	20	C	A	A	A	301	24	MMP9	2	2
SLC12A5	57468	broad.mit.edu	37	20	44671910	44671910	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44671910T>C	uc010zxl.1	+	c.1254T>C	c.(1252-1254)GAT>GAC	p.D418D	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.D395D	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	418	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.220779	131.427891	147.991491	51	180	KEEP	---	---	---	---	capture		Silent	SNP	44671910	44671910	14881	20	T	C	C	C	634	49	SLC12A5	4	4
SLC13A3	64849	broad.mit.edu	37	20	45194872	45194872	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45194872T>C	uc002xsf.1	-	c.1490A>G	c.(1489-1491)GAG>GGG	p.E497G	SLC13A3_uc010ghn.1_Missense_Mutation_p.E466G|SLC13A3_uc010zxw.1_Missense_Mutation_p.E447G|SLC13A3_uc002xsg.1_Missense_Mutation_p.E450G|SLC13A3_uc010gho.1_Missense_Mutation_p.E415G|SLC13A3_uc010zxx.1_Missense_Mutation_p.E399G|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Missense_Mutation_p.E84G|SLC13A3_uc010zxv.1_Missense_Mutation_p.E82G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	497	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)									0.202247	42.901328	50.238104	18	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45194872	45194872	14888	20	T	C	C	C	702	54	SLC13A3	4	4
CSE1L	1434	broad.mit.edu	37	20	47691870	47691870	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47691870G>C	uc002xty.2	+	c.1148G>C	c.(1147-1149)CGC>CCC	p.R383P	CSE1L_uc010zyg.1_Missense_Mutation_p.R166P|CSE1L_uc010ghx.2_Missense_Mutation_p.R327P|CSE1L_uc010ghy.2_Missense_Mutation_p.R32P|CSE1L_uc010zyh.1_Missense_Mutation_p.R32P	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	383					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)											0.209677	33.2852	38.088565	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47691870	47691870	4071	20	G	C	C	C	494	38	CSE1L	3	3
KCNB1	3745	broad.mit.edu	37	20	47989936	47989936	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47989936G>T	uc002xur.1	-	c.2161C>A	c.(2161-2163)CCA>ACA	p.P721T	KCNB1_uc002xus.1_Missense_Mutation_p.P721T	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	721	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.27907	29.178696	31.069555	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47989936	47989936	8317	20	G	T	T	T	559	43	KCNB1	2	2
KCNG1	3755	broad.mit.edu	37	20	49626751	49626751	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49626751C>T	uc002xwa.3	-	c.125G>A	c.(124-126)CGG>CAG	p.R42Q	KCNG1_uc002xwb.2_Missense_Mutation_p.R42Q	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	42	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2														0.289474	30.114712	31.621232	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49626751	49626751	8332	20	C	T	T	T	299	23	KCNG1	1	1
SALL4	57167	broad.mit.edu	37	20	50407808	50407808	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50407808G>T	uc002xwh.3	-	c.1214C>A	c.(1213-1215)ACT>AAT	p.T405N	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	405					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.177778	15.971222	20.372751	8	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50407808	50407808	14293	20	G	T	T	T	468	36	SALL4	2	2
TSHZ2	128553	broad.mit.edu	37	20	51870390	51870390	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51870390C>A	uc002xwo.2	+	c.393C>A	c.(391-393)AAC>AAA	p.N131K		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	131					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.25	18.81442	20.40313	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51870390	51870390	17175	20	C	A	A	A	220	17	TSHZ2	2	2
TSHZ2	128553	broad.mit.edu	37	20	51871070	51871070	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51871070A>C	uc002xwo.2	+	c.1073A>C	c.(1072-1074)AAC>ACC	p.N358T		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	358					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.177215	29.913742	37.66217	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51871070	51871070	17175	20	A	C	C	C	26	2	TSHZ2	4	4
C20orf85	128602	broad.mit.edu	37	20	56728608	56728608	+	Missense_Mutation	SNP	G	T	T	rs16984945	byFrequency	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56728608G>T	uc002xyv.2	+	c.77G>T	c.(76-78)CGT>CTT	p.R26L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	hypothetical protein LOC128602	26										ovary(1)	1	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)											0.177305	54.943975	68.731936	25	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56728608	56728608	2200	20	G	T	T	T	520	40	C20orf85	1	1
ZNF831	128611	broad.mit.edu	37	20	57766700	57766700	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57766700C>T	uc002yan.2	+	c.626C>T	c.(625-627)GCC>GTC	p.A209V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	209						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.230769	34.383597	38.639316	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57766700	57766700	18784	20	C	T	T	T	338	26	ZNF831	2	2
EDN3	1908	broad.mit.edu	37	20	57896099	57896099	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57896099C>A	uc002yap.2	+	c.393C>A	c.(391-393)AAC>AAA	p.N131K	EDN3_uc002yao.1_Missense_Mutation_p.N131K|EDN3_uc002yaq.2_Missense_Mutation_p.N131K|EDN3_uc002yar.2_Missense_Mutation_p.N131K|EDN3_uc002yas.2_Missense_Mutation_p.N131K	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	131					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity				0	all_lung(29;0.0115)													0.192308	23.427847	28.018917	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57896099	57896099	5105	20	C	A	A	A	259	20	EDN3	2	2
SYCP2	10388	broad.mit.edu	37	20	58490245	58490245	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58490245C>A	uc002yaz.2	-	c.609G>T	c.(607-609)ATG>ATT	p.M203I	SYCP2_uc010gju.1_Missense_Mutation_p.M104I	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	203					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)											0.142857	30.091282	44.719817	17	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58490245	58490245	15953	20	C	A	A	A	273	21	SYCP2	2	2
CDH4	1002	broad.mit.edu	37	20	60419857	60419857	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60419857G>T	uc002ybn.1	+	c.710G>T	c.(709-711)CGG>CTG	p.R237L	CDH4_uc002ybp.1_Missense_Mutation_p.R163L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	237	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)	5			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)											0.35	17.000316	17.405389	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60419857	60419857	3241	20	G	T	T	T	507	39	CDH4	1	1
FERMT1	55612	broad.mit.edu	37	20	6068532	6068532	+	Splice_Site_SNP	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:6068532T>A	uc002wmr.2	-	c.1265_splice	c.e11-1	p.G422_splice	FERMT1_uc002wmq.2_Splice_Site_SNP|FERMT1_uc010gbt.2_Splice_Site_SNP_p.G165_splice|FERMT1_uc002wms.2_Intron	NM_017671	NP_060141			kindlin-1						cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)	2														0.185185	24.143436	29.141178	10	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6068532	6068532	6054	20	T	A	A	A	715	55	FERMT1	5	3
HRH3	11255	broad.mit.edu	37	20	60791954	60791954	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60791954G>T	uc002yci.2	-	c.446C>A	c.(445-447)ACG>AAG	p.T149K	HRH3_uc002ycf.2_Missense_Mutation_p.T149K|HRH3_uc002ycg.2_Missense_Mutation_p.T149K|HRH3_uc002ych.2_Missense_Mutation_p.T149K	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	149	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)									0.125	5.01087	8.305343	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60791954	60791954	7649	20	G	T	T	T	520	40	HRH3	1	1
FERMT1	55612	broad.mit.edu	37	20	6096636	6096636	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:6096636C>T	uc002wmr.2	-	c.207G>A	c.(205-207)TGG>TGA	p.W69*	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Nonsense_Mutation_p.W69*	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	69					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)	2														0.193548	12.230754	14.950059	6	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6096636	6096636	6054	20	C	T	T	T	338	26	FERMT1	5	2
COL20A1	57642	broad.mit.edu	37	20	61938933	61938933	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61938933G>T	uc011aau.1	+	c.588G>T	c.(586-588)CAG>CAT	p.Q196H	COL20A1_uc011aav.1_Missense_Mutation_p.Q17H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	196	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity				0	all_cancers(38;1.39e-10)													0.2	11.26023	13.353241	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61938933	61938933	3817	20	G	T	T	T	438	34	COL20A1	2	2
STMN3	50861	broad.mit.edu	37	20	62273466	62273466	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62273466C>T	uc002yfr.1	-	c.478G>A	c.(478-480)GAG>AAG	p.E160K	STMN3_uc011abb.1_Missense_Mutation_p.E160K	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	SCG10-like-protein	160	Potential.				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding				0	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)											0.384615	15.472308	15.623926	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62273466	62273466	15830	20	C	T	T	T	403	31	STMN3	1	1
NPBWR2	2832	broad.mit.edu	37	20	62737247	62737247	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62737247G>T	uc011abt.1	-	c.938C>A	c.(937-939)CCC>CAC	p.P313H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	313	Cytoplasmic (Potential).					integral to membrane|plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)													0.119048	5.597338	11.537864	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62737247	62737247	10973	20	G	T	T	T	559	43	NPBWR2	2	2
PAK7	57144	broad.mit.edu	37	20	9560984	9560984	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9560984C>A	uc002wnl.2	-	c.798G>T	c.(796-798)AGG>AGT	p.R266S	PAK7_uc002wnk.2_Missense_Mutation_p.R266S|PAK7_uc002wnj.2_Missense_Mutation_p.R266S|PAK7_uc010gby.1_Missense_Mutation_p.R266S	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	266	Linker.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)							177				0.215686	22.373243	26.212397	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9560984	9560984	11821	20	C	A	A	A	389	30	PAK7	2	2
PAK7	57144	broad.mit.edu	37	20	9560986	9560986	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9560986T>A	uc002wnl.2	-	c.796A>T	c.(796-798)AGG>TGG	p.R266W	PAK7_uc002wnk.2_Missense_Mutation_p.R266W|PAK7_uc002wnj.2_Missense_Mutation_p.R266W|PAK7_uc010gby.1_Missense_Mutation_p.R266W	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	266	Linker.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(7)|skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	15			COAD - Colon adenocarcinoma(9;0.194)						p.R266W(DU145-Tumor)	177				0.211538	27.999801	31.997663	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9560986	9560986	11821	20	T	A	A	A	713	55	PAK7	3	3
ADAMTS5	11096	broad.mit.edu	37	21	28315712	28315712	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28315712C>T	uc002ymg.2	-	c.1392G>A	c.(1390-1392)CTG>CTA	p.L464L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	464	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.458333	35.522101	35.558438	11	13	KEEP	---	---	---	---	capture		Silent	SNP	28315712	28315712	270	21	C	T	T	T	262	21	ADAMTS5	2	2
KRTAP27-1	643812	broad.mit.edu	37	21	31709507	31709507	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31709507T>G	uc002ynx.1	-	c.480A>C	c.(478-480)CAA>CAC	p.Q160H		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	160						intermediate filament				ovary(2)	2														0.117647	15.93073	30.595166	12	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31709507	31709507	8866	21	T	G	G	G	673	52	KRTAP27-1	4	4
KRTAP13-4	284827	broad.mit.edu	37	21	31802904	31802904	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31802904C>A	uc011acw.1	+	c.311C>A	c.(310-312)TCG>TAG	p.S104*		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	104						intermediate filament					0						NSCLC(196;2401 3038 18004 35753)								0.44	35.422845	35.501046	11	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31802904	31802904	8840	21	C	A	A	A	403	31	KRTAP13-4	5	1
KRTAP19-4	337971	broad.mit.edu	37	21	31869266	31869266	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31869266C>A	uc011acz.1	-	c.163G>T	c.(163-165)GGA>TGA	p.G55*		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	55						intermediate filament				ovary(2)	2														0.301887	86.029737	89.764275	32	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31869266	31869266	8846	21	C	A	A	A	273	21	KRTAP19-4	5	2
MX2	4600	broad.mit.edu	37	21	42778787	42778787	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42778787G>A	uc002yzf.1	+	c.1767G>A	c.(1765-1767)CTG>CTA	p.L589L	MX2_uc002yzg.1_Silent_p.L312L|MX2_uc010gop.1_Silent_p.L71L	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	589					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)												0.125	10.854851	19.647933	8	56	KEEP	---	---	---	---	capture		Silent	SNP	42778787	42778787	10392	21	G	A	A	A	574	45	MX2	2	2
MX1	4599	broad.mit.edu	37	21	42824753	42824753	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42824753C>G	uc002yzh.2	+	c.1715C>G	c.(1714-1716)TCT>TGT	p.S572C	MX1_uc002yzi.2_Missense_Mutation_p.S572C|MX1_uc010goq.2_Missense_Mutation_p.S572C	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	572					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)												0.191257	83.027792	99.322936	35	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42824753	42824753	10391	21	C	G	G	G	416	32	MX1	3	3
UMODL1	89766	broad.mit.edu	37	21	43531672	43531672	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43531672C>A	uc002zag.1	+	c.2340C>A	c.(2338-2340)CCC>CCA	p.P780P	UMODL1_uc002zad.1_Silent_p.P580P|UMODL1_uc002zae.1_Silent_p.P708P|UMODL1_uc002zaf.1_Silent_p.P652P	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	705	Extracellular (Potential).|Fibronectin type-III 2.					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)								0.125	5.957012	11.444679	5	35	KEEP	---	---	---	---	capture		Silent	SNP	43531672	43531672	17538	21	C	A	A	A	262	21	UMODL1	2	2
KRTAP10-4	386672	broad.mit.edu	37	21	45994813	45994813	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45994813G>T	uc002zfk.1	+	c.1178G>T	c.(1177-1179)CGC>CTC	p.R393L	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	393	36 X 5 AA repeats of C-C-X(3).|36.					keratin filament					0														0.176471	12.93598	16.284396	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45994813	45994813	8826	21	G	T	T	T	494	38	KRTAP10-4	1	1
ITGB2	3689	broad.mit.edu	37	21	46308663	46308663	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46308663C>A	uc002zgd.2	-	c.2025G>T	c.(2023-2025)ACG>ACT	p.T675T	ITGB2_uc002zge.2_Silent_p.T675T|ITGB2_uc002zgf.3_Silent_p.T675T|ITGB2_uc011afl.1_Silent_p.T597T|ITGB2_uc010gpw.2_Silent_p.T618T|ITGB2_uc002zgg.2_Silent_p.T675T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	675	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8				Colorectal(79;0.0669)	Simvastatin(DB00641)									0.195122	17.979004	21.53172	8	33	KEEP	---	---	---	---	capture		Silent	SNP	46308663	46308663	8198	21	C	A	A	A	340	27	ITGB2	1	1
MED15	51586	broad.mit.edu	37	22	20891465	20891465	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20891465C>T	uc002zsp.2	+	c.130C>T	c.(130-132)CAT>TAT	p.H44Y	MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.H44Y|MED15_uc002zsq.2_Missense_Mutation_p.H44Y|MED15_uc010gso.2_Missense_Mutation_p.H44Y|MED15_uc002zsr.2_Missense_Mutation_p.H18Y|MED15_uc011ahs.1_Missense_Mutation_p.H18Y|MED15_uc011aht.1_Missense_Mutation_p.H18Y	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	44	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding|RNA polymerase II transcription mediator activity				0	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)											0.25	12.372067	13.504047	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20891465	20891465	9822	22	C	T	T	T	273	21	MED15	2	2
LZTR1	8216	broad.mit.edu	37	22	21348288	21348288	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21348288G>C	uc002zto.2	+	c.1429G>C	c.(1429-1431)GCG>CCG	p.A477P	LZTR1_uc002ztn.2_Missense_Mutation_p.A436P|LZTR1_uc011ahy.1_Missense_Mutation_p.A458P|LZTR1_uc010gsr.1_Missense_Mutation_p.A348P|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	477	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)							1299				0.3125	14.071626	14.57104	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21348288	21348288	9514	22	G	C	C	C	546	42	LZTR1	3	3
BCR	613	broad.mit.edu	37	22	23524070	23524070	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23524070G>T	uc002zww.2	+	c.923G>T	c.(922-924)CGC>CTC	p.R308L	BCR_uc002zwx.2_Missense_Mutation_p.R308L	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	308	Kinase.|Binding to ABL SH2-domain.				protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)	10										1115				0.238095	11.156439	12.481449	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23524070	23524070	1410	22	G	T	T	T	494	38	BCR	1	1
HPS4	89781	broad.mit.edu	37	22	26872994	26872994	+	Nonsense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26872994T>A	uc003acl.2	-	c.241A>T	c.(241-243)AAG>TAG	p.K81*	HPS4_uc003aci.2_Nonsense_Mutation_p.K76*|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Nonsense_Mutation_p.K81*|HPS4_uc003aco.1_Nonsense_Mutation_p.K76*	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	81					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														0.388889	39.041038	39.43058	14	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26872994	26872994	7633	22	T	A	A	A	806	62	HPS4	5	3
APOL3	80833	broad.mit.edu	37	22	36556806	36556806	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36556806C>T	uc003aot.2	-	c.134G>A	c.(133-135)GGT>GAT	p.G45D	APOL3_uc003aoq.2_5'UTR|APOL3_uc003aor.2_5'UTR|APOL3_uc003aos.2_5'UTR|APOL3_uc003aou.2_5'UTR|APOL3_uc003aov.2_5'UTR	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	45					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0														0.166667	13.464138	18.530471	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36556806	36556806	818	22	C	T	T	T	234	18	APOL3	2	2
CACNA1I	8911	broad.mit.edu	37	22	40068257	40068257	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40068257G>A	uc003ayc.2	+	c.4593G>A	c.(4591-4593)GTG>GTA	p.V1531V	CACNA1I_uc003ayd.2_Silent_p.V1496V|CACNA1I_uc003aye.2_Silent_p.V1446V|CACNA1I_uc003ayf.2_Silent_p.V1411V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1531	Helical; Name=S2 of repeat IV; (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.281437	115.16626	122.330745	47	120	KEEP	---	---	---	---	capture		Silent	SNP	40068257	40068257	2662	22	G	A	A	A	587	46	CACNA1I	2	2
ENTHD1	150350	broad.mit.edu	37	22	40283562	40283562	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40283562T>A	uc003ayg.2	-	c.191A>T	c.(190-192)CAT>CTT	p.H64L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	64	ENTH.									ovary(2)	2	Melanoma(58;0.0749)													0.226415	59.941201	67.231811	24	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40283562	40283562	5330	22	T	A	A	A	663	51	ENTHD1	3	3
ZC3H7B	23264	broad.mit.edu	37	22	41737150	41737150	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41737150G>A	uc003azw.2	+	c.1197G>A	c.(1195-1197)TCG>TCA	p.S399S	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	415					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.233333	18.110212	20.062498	7	23	KEEP	---	---	---	---	capture		Silent	SNP	41737150	41737150	18161	22	G	A	A	A	496	39	ZC3H7B	1	1
XRCC6	2547	broad.mit.edu	37	22	42024183	42024183	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42024183G>A	uc003bao.1	+	c.144G>A	c.(142-144)ATG>ATA	p.M48I	XRCC6_uc003bap.1_Missense_Mutation_p.M48I|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Missense_Mutation_p.M48I|XRCC6_uc003bar.1_Missense_Mutation_p.M48I|XRCC6_uc003bas.1_Intron	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	48	Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|transcription activator activity			skin(2)|ovary(1)|kidney(1)	4														0.4	50.311891	50.712843	18	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42024183	42024183	18040	22	G	A	A	A	624	48	XRCC6	2	2
PNPLA5	150379	broad.mit.edu	37	22	44282278	44282278	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44282278C>T	uc003beg.2	-	c.854G>A	c.(853-855)CGC>CAC	p.R285H	PNPLA5_uc011aqc.1_Missense_Mutation_p.R145H|PNPLA5_uc003beh.2_Missense_Mutation_p.R171H	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	285					lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)												0.371429	32.138513	32.65639	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44282278	44282278	12595	22	C	T	T	T	351	27	PNPLA5	1	1
CELSR1	9620	broad.mit.edu	37	22	46787142	46787142	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46787142C>T	uc003bhw.1	-	c.6191G>A	c.(6190-6192)TGG>TAG	p.W2064*	CELSR1_uc011arc.1_Nonsense_Mutation_p.W385*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2064	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			pancreas(2)|skin(1)	3		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)								OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.28125	23.760479	25.137281	9	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46787142	46787142	3354	22	C	T	T	T	273	21	CELSR1	5	2
CERK	64781	broad.mit.edu	37	22	47087660	47087660	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:47087660A>T	uc003bia.2	-	c.1141T>A	c.(1141-1143)TGG>AGG	p.W381R	CERK_uc010hae.2_Missense_Mutation_p.W183R	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)										0.444444	24.195367	24.243931	8	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47087660	47087660	3400	22	A	T	T	T	78	6	CERK	3	3
IL1R2	7850	broad.mit.edu	37	2	102626230	102626230	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102626230G>T	uc002tbm.2	+	c.274G>T	c.(274-276)GCT>TCT	p.A92S	IL1R2_uc002tbn.2_Missense_Mutation_p.A92S|IL1R2_uc002tbo.1_Missense_Mutation_p.A92S	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	92	Extracellular (Potential).|Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity				0					Anakinra(DB00026)	Pancreas(106;189 1628 2302 5133 12295)				365				0.158192	50.48685	70.123513	28	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102626230	102626230	7960	2	G	T	T	T	598	46	IL1R2	2	2
IL1RL2	8808	broad.mit.edu	37	2	102849440	102849440	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102849440G>T	uc002tbs.2	+	c.1153G>T	c.(1153-1155)GCC>TCC	p.A385S	IL1RL2_uc002tbt.2_Missense_Mutation_p.A267S	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	385	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2														0.103896	9.807878	21.772504	8	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102849440	102849440	7965	2	G	T	T	T	494	38	IL1RL2	1	1
NCK2	8440	broad.mit.edu	37	2	106498470	106498470	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:106498470G>T	uc002tdg.2	+	c.913G>T	c.(913-915)GAG>TAG	p.E305*	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Nonsense_Mutation_p.E305*	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	305	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2														0.208333	10.268236	12.154672	5	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	106498470	106498470	10619	2	G	T	T	T	533	41	NCK2	5	2
SLC5A7	60482	broad.mit.edu	37	2	108626831	108626831	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108626831C>A	uc002tdv.2	+	c.1257C>A	c.(1255-1257)CCC>CCA	p.P419P	SLC5A7_uc010ywm.1_Silent_p.P172P|SLC5A7_uc010fjj.2_Silent_p.P419P|SLC5A7_uc010ywn.1_Silent_p.P306P	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	419	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.282051	59.923236	63.248386	22	56	KEEP	---	---	---	---	capture		Silent	SNP	108626831	108626831	15167	2	C	A	A	A	275	22	SLC5A7	2	2
SULT1C3	442038	broad.mit.edu	37	2	108881755	108881755	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108881755A>T	uc010ywo.1	+	c.863A>T	c.(862-864)GAC>GTC	p.D288V		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	288						cytoplasm	alcohol sulfotransferase activity				0														0.088889	1.078925	8.750918	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108881755	108881755	15898	2	A	T	T	T	130	10	SULT1C3	3	3
IL1F9	56300	broad.mit.edu	37	2	113737683	113737683	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113737683G>C	uc002tio.1	+	c.258G>C	c.(256-258)TTG>TTC	p.L86F	IL1F9_uc010fkr.1_Missense_Mutation_p.L51F	NM_019618	NP_062564	Q9NZH8	IL1F9_HUMAN	interleukin 1 family, member 9	86					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)|central_nervous_system(1)	2						Esophageal Squamous(44;715 981 6239 42838 46707)								0.280702	50.69857	53.148575	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113737683	113737683	7958	2	G	C	C	C	620	48	IL1F9	3	3
DPP10	57628	broad.mit.edu	37	2	116447425	116447425	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116447425G>T	uc002tle.2	+	c.516G>T	c.(514-516)TGG>TGT	p.W172C	DPP10_uc002tla.1_Missense_Mutation_p.W168C|DPP10_uc002tlb.1_Missense_Mutation_p.W118C|DPP10_uc002tlc.1_Missense_Mutation_p.W164C|DPP10_uc002tlf.1_Missense_Mutation_p.W161C	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	168	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.115385	3.30532	7.094557	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116447425	116447425	4911	2	G	T	T	T	559	43	DPP10	2	2
MARCO	8685	broad.mit.edu	37	2	119731947	119731947	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119731947G>T	uc002tln.1	+	c.499G>T	c.(499-501)GCC>TCC	p.A167S	MARCO_uc010yyf.1_Missense_Mutation_p.A89S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	167	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.272727	7.41972	7.932219	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119731947	119731947	9694	2	G	T	T	T	598	46	MARCO	2	2
MARCO	8685	broad.mit.edu	37	2	119752009	119752009	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119752009G>T	uc002tln.1	+	c.1476G>T	c.(1474-1476)GAG>GAT	p.E492D	MARCO_uc010yyf.1_Missense_Mutation_p.E414D	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	492	SRCR.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.142857	7.855905	12.154326	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119752009	119752009	9694	2	G	T	T	T	425	33	MARCO	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125281976	125281976	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125281976C>A	uc010flu.2	+	c.1424C>A	c.(1423-1425)GCT>GAT	p.A475D	CNTNAP5_uc002tno.2_Missense_Mutation_p.A474D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	474	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.230769	14.247924	15.96711	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125281976	125281976	3788	2	C	A	A	A	364	28	CNTNAP5	2	2
IMP4	92856	broad.mit.edu	37	2	131102277	131102277	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131102277G>T	uc002tra.1	+	c.188G>T	c.(187-189)GGA>GTA	p.G63V	CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank	NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	63					rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)													0.333333	23.62135	24.368996	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131102277	131102277	8021	2	G	T	T	T	533	41	IMP4	2	2
POTEE	445582	broad.mit.edu	37	2	132021506	132021506	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132021506C>A	uc002tsn.2	+	c.2478C>A	c.(2476-2478)ACC>ACA	p.T826T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T426T|POTEE_uc002tsl.2_Silent_p.T408T|POTEE_uc010fmy.1_Silent_p.T290T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	826	Actin-like.						ATP binding				0														0.098592	6.725637	29.699975	14	128	KEEP	---	---	---	---	capture		Silent	SNP	132021506	132021506	12694	2	C	A	A	A	301	24	POTEE	2	2
NCKAP5	344148	broad.mit.edu	37	2	133541199	133541199	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133541199C>A	uc002ttp.2	-	c.3185G>T	c.(3184-3186)GGA>GTA	p.G1062V	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1062							protein binding				0														0.166667	23.083472	31.25985	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133541199	133541199	10622	2	C	A	A	A	390	30	NCKAP5	2	2
CCNT2	905	broad.mit.edu	37	2	135711659	135711659	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135711659G>A	uc002tuc.1	+	c.1634G>A	c.(1633-1635)AGC>AAC	p.S545N	CCNT2_uc002tub.1_Missense_Mutation_p.S545N|CCNT2_uc010zbf.1_Missense_Mutation_p.S370N|CCNT2_uc002tud.1_Missense_Mutation_p.S208N	NM_058241	NP_490595	O60583	CCNT2_HUMAN	cyclin T2 isoform b	545					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				ovary(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.107)										0.134615	11.290358	18.020415	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135711659	135711659	3062	2	G	A	A	A	442	34	CCNT2	2	2
MCM6	4175	broad.mit.edu	37	2	136598469	136598469	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136598469C>T	uc002tuw.2	-	c.2402G>A	c.(2401-2403)GGA>GAA	p.G801E		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	801					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	Ovarian(196;141 2104 8848 24991 25939)								0.169492	17.709443	23.816225	10	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136598469	136598469	9780	2	C	T	T	T	390	30	MCM6	2	2
THSD7B	80731	broad.mit.edu	37	2	137928425	137928425	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137928425C>A	uc002tva.1	+	c.1547C>A	c.(1546-1548)GCA>GAA	p.A516E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A406E	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.171429	12.128678	15.700267	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137928425	137928425	16408	2	C	A	A	A	325	25	THSD7B	2	2
THSD7B	80731	broad.mit.edu	37	2	138400070	138400071	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138400070_138400071GG>TT	uc002tva.1	+	c.3725_3726GG>TT	c.(3724-3726)CGG>CTT	p.R1242L	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.1375	20.791568	30.942849	11	69	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	138400070	138400071	16408	2	GG	TT	TT	TT	507	39	THSD7B	1	1
LRP1B	53353	broad.mit.edu	37	2	141356323	141356323	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141356323C>A	uc002tvj.1	-	c.7071G>T	c.(7069-7071)GTG>GTT	p.V2357V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2357	Extracellular (Potential).|LDL-receptor class B 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.139535	9.045787	14.425725	6	37	KEEP	---	---	---	---	capture		Silent	SNP	141356323	141356323	9328	2	C	A	A	A	262	21	LRP1B	2	2
RIF1	55183	broad.mit.edu	37	2	152293374	152293374	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152293374C>T	uc002txm.2	+	c.1229C>T	c.(1228-1230)CCC>CTC	p.P410L	RIF1_uc002txl.2_Missense_Mutation_p.P410L|RIF1_uc010fnv.1_Missense_Mutation_p.P374L|RIF1_uc002txn.2_Missense_Mutation_p.P410L|RIF1_uc002txo.2_Missense_Mutation_p.P410L|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	410					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.142857	9.622647	14.786237	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152293374	152293374	13834	2	C	T	T	T	286	22	RIF1	2	2
NEB	4703	broad.mit.edu	37	2	152426643	152426643	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152426643G>A	uc010fnx.2	-	c.12279C>T	c.(12277-12279)GAC>GAT	p.D4093D	NEB_uc002txr.2_Silent_p.D516D	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4093	Nebulin 112.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.222222	10.089984	11.367874	4	14	KEEP	---	---	---	---	capture		Silent	SNP	152426643	152426643	10701	2	G	A	A	A	568	44	NEB	2	2
NR4A2	4929	broad.mit.edu	37	2	157183359	157183359	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:157183359G>A	uc002tyz.3	-	c.1232C>T	c.(1231-1233)ACT>ATT	p.T411I	NR4A2_uc002tyx.3_Missense_Mutation_p.T348I|NR4A2_uc010zcf.1_Missense_Mutation_p.T411I|NR4A2_uc010zcg.1_Missense_Mutation_p.T33I	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	411	Ligand-binding (Potential).				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3														0.160714	33.092653	45.354114	18	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157183359	157183359	11038	2	G	A	A	A	468	36	NR4A2	2	2
FAP	2191	broad.mit.edu	37	2	163059565	163059565	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163059565T>C	uc002ucd.2	-	c.1138A>G	c.(1138-1140)ATC>GTC	p.I380V	FAP_uc010zct.1_Missense_Mutation_p.I355V|FAP_uc010fpd.2_Intron	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	380	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.16129	11.756447	15.138538	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163059565	163059565	5909	2	T	C	C	C	637	49	FAP	4	4
SLC38A11	151258	broad.mit.edu	37	2	165765220	165765220	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165765220A>T	uc002ucv.1	-	c.857T>A	c.(856-858)GTG>GAG	p.V286E	SLC38A11_uc002ucu.1_Missense_Mutation_p.V264E|SLC38A11_uc002ucw.1_Missense_Mutation_p.V286E	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	286	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.166667	15.500653	19.922977	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165765220	165765220	15100	2	A	T	T	T	78	6	SLC38A11	3	3
SCN3A	6328	broad.mit.edu	37	2	165956856	165956856	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165956856C>T	uc002ucx.2	-	c.3922G>A	c.(3922-3924)GCT>ACT	p.A1308T	SCN3A_uc002ucy.2_Missense_Mutation_p.A1259T|SCN3A_uc002ucz.2_Missense_Mutation_p.A1259T|SCN3A_uc002uda.1_Missense_Mutation_p.A1128T|SCN3A_uc002udb.1_Missense_Mutation_p.A1128T	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1308	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.131148	12.487136	20.530973	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165956856	165956856	14400	2	C	T	T	T	364	28	SCN3A	2	2
SCN2A	6326	broad.mit.edu	37	2	166245431	166245431	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166245431C>A	uc002udc.2	+	c.5115C>A	c.(5113-5115)ATC>ATA	p.I1705I	SCN2A_uc002udd.2_Silent_p.I1705I|SCN2A_uc002ude.2_Silent_p.I1705I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1705	IV.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.170886	48.013689	64.250905	27	131	KEEP	---	---	---	---	capture		Silent	SNP	166245431	166245431	14398	2	C	A	A	A	408	32	SCN2A	2	2
TTC21B	79809	broad.mit.edu	37	2	166799738	166799738	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166799738C>G	uc002udk.2	-	c.543G>C	c.(541-543)CTG>CTC	p.L181L	TTC21B_uc002udl.2_Silent_p.L181L	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	181	TPR 3.					cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5														0.117647	6.876676	11.761006	4	30	KEEP	---	---	---	---	capture		Silent	SNP	166799738	166799738	17242	2	C	G	G	G	314	25	TTC21B	3	3
SCN1A	6323	broad.mit.edu	37	2	166854551	166854551	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166854551C>G	uc010zcz.1	-	c.4440G>C	c.(4438-4440)AAG>AAC	p.K1480N	SCN1A_uc002udo.3_Missense_Mutation_p.K1360N|SCN1A_uc010fpk.2_Missense_Mutation_p.K1332N	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1491	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|large_intestine(1)	7					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)									0.1875	23.246273	27.635127	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166854551	166854551	14396	2	C	G	G	G	415	32	SCN1A	3	3
XIRP2	129446	broad.mit.edu	37	2	167992503	167992503	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167992503G>T	uc002udx.2	+	c.493G>T	c.(493-495)GAC>TAC	p.D165Y	XIRP2_uc010fpn.2_Missense_Mutation_p.D165Y|XIRP2_uc010fpo.2_Missense_Mutation_p.D165Y|XIRP2_uc010fpp.2_Missense_Mutation_p.D165Y|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.225806	32.763486	37.012527	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167992503	167992503	18011	2	G	T	T	T	429	33	XIRP2	2	2
XIRP2	129446	broad.mit.edu	37	2	168101996	168101996	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168101996C>T	uc002udx.2	+	c.4094C>T	c.(4093-4095)TCA>TTA	p.S1365L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1190L|XIRP2_uc010fpq.2_Missense_Mutation_p.S1143L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1190					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.113636	5.642364	12.122178	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168101996	168101996	18011	2	C	T	T	T	377	29	XIRP2	2	2
ABCB11	8647	broad.mit.edu	37	2	169781254	169781254	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169781254G>T	uc002ueo.1	-	c.3678C>A	c.(3676-3678)CGC>CGA	p.R1226R	ABCB11_uc010zda.1_Silent_p.R644R|ABCB11_uc010zdb.1_Silent_p.R702R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	1226	Cytoplasmic (Potential).|ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.112903	7.684439	16.851106	7	55	KEEP	---	---	---	---	capture		Silent	SNP	169781254	169781254	43	2	G	T	T	T	587	46	ABCB11	2	2
LRP2	4036	broad.mit.edu	37	2	170094714	170094714	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170094714C>A	uc002ues.2	-	c.4393G>T	c.(4393-4395)GGT>TGT	p.G1465C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1465	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.09434	3.034568	11.796533	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170094714	170094714	9329	2	C	A	A	A	273	21	LRP2	2	2
MYO3B	140469	broad.mit.edu	37	2	171240296	171240296	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171240296A>G	uc002ufy.2	+	c.1262A>G	c.(1261-1263)CAG>CGG	p.Q421R	MYO3B_uc002ufv.2_Missense_Mutation_p.Q408R|MYO3B_uc010fqb.1_Missense_Mutation_p.Q408R|MYO3B_uc002ufz.2_Missense_Mutation_p.Q421R|MYO3B_uc002ufw.2_Non-coding_Transcript|MYO3B_uc002ufx.2_Non-coding_Transcript|MYO3B_uc002ugb.2_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	421	Myosin head-like.				protein phosphorylation|response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(5)|skin(2)|central_nervous_system(1)	16										1118				0.142857	11.947057	18.866585	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171240296	171240296	10472	2	A	G	G	G	91	7	MYO3B	4	4
ITGA6	3655	broad.mit.edu	37	2	173352313	173352313	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173352313G>T	uc002uhp.1	+	c.2199G>T	c.(2197-2199)TCG>TCT	p.S733S	ITGA6_uc010zdy.1_Silent_p.S614S|ITGA6_uc002uho.1_Silent_p.S733S|ITGA6_uc010fqm.1_Silent_p.S379S	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	772	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)											0.146341	9.118522	14.105569	6	35	KEEP	---	---	---	---	capture		Silent	SNP	173352313	173352313	8184	2	G	T	T	T	483	38	ITGA6	1	1
VSNL1	7447	broad.mit.edu	37	2	17836575	17836575	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17836575G>A	uc002rcm.2	+	c.490G>A	c.(490-492)GAC>AAC	p.D164N		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	164	3 (Potential).|EF-hand 4.						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.245614	34.826583	38.182508	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17836575	17836575	17795	2	G	A	A	A	585	45	VSNL1	2	2
SMC6	79677	broad.mit.edu	37	2	17897437	17897437	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17897437C>A	uc002rco.2	-	c.1441G>T	c.(1441-1443)GGC>TGC	p.G481C	SMC6_uc010exo.2_Missense_Mutation_p.G481C|SMC6_uc002rcn.2_Missense_Mutation_p.G481C|SMC6_uc002rcp.1_Missense_Mutation_p.G507C|SMC6_uc002rcq.2_Missense_Mutation_p.G507C	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	481	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|kidney(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.203883	46.6034	55.006818	21	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17897437	17897437	15285	2	C	A	A	A	273	21	SMC6	2	2
TTN	7273	broad.mit.edu	37	2	179399169	179399169	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179399169C>T	uc010zfg.1	-	c.94469G>A	c.(94468-94470)AGG>AAG	p.R31490K	TTN_uc010zfh.1_Missense_Mutation_p.R25185K|TTN_uc010zfi.1_Missense_Mutation_p.R25118K|TTN_uc010zfj.1_Missense_Mutation_p.R24993K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3072										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				0.1	5.878998	17.062449	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179399169	179399169	17290	2	C	T	T	T	312	24	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179412653	179412653	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179412653T>A	uc010zfg.1	-	c.85996A>T	c.(85996-85998)ACC>TCC	p.T28666S	TTN_uc010zfh.1_Missense_Mutation_p.T22361S|TTN_uc010zfi.1_Missense_Mutation_p.T22294S|TTN_uc010zfj.1_Missense_Mutation_p.T22169S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	961										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				0.115385	4.008835	7.79445	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179412653	179412653	17290	2	T	A	A	A	741	57	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179443726	179443726	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179443726G>T	uc010zfg.1	-	c.60327C>A	c.(60325-60327)ACC>ACA	p.T20109T	TTN_uc010zfh.1_Silent_p.T13804T|TTN_uc010zfi.1_Silent_p.T13737T|TTN_uc010zfj.1_Silent_p.T13612T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3187										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				0.116279	6.476005	12.679151	5	38	KEEP	---	---	---	---	capture		Silent	SNP	179443726	179443726	17290	2	G	T	T	T	600	47	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179578693	179578693	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179578693C>A	uc010zfg.1	-	c.22960G>T	c.(22960-22962)GGG>TGG	p.G7654W	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4315W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3576										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				0.227273	11.489404	12.973429	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179578693	179578693	17290	2	C	A	A	A	273	21	TTN	2	2
PDE1A	5136	broad.mit.edu	37	2	183129074	183129074	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183129074C>A	uc002uoq.1	-	c.169G>T	c.(169-171)GAA>TAA	p.E57*	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc010zfq.1_Nonsense_Mutation_p.E57*|PDE1A_uc002uor.2_Nonsense_Mutation_p.E41*|PDE1A_uc002uos.2_Nonsense_Mutation_p.E57*|PDE1A_uc002uov.1_Non-coding_Transcript	NM_005019	NP_005010	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 1	57					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.061)											0.232143	31.446681	35.126089	13	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	183129074	183129074	12054	2	C	A	A	A	377	29	PDE1A	5	2
DNAJC10	54431	broad.mit.edu	37	2	183582905	183582905	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183582905G>T	uc002uow.1	+	c.92G>T	c.(91-93)GGC>GTC	p.G31V	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.G31V|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	31					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			Pancreas(56;860 1183 25669 35822 48585)								0.12963	7.823531	15.009667	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183582905	183582905	4812	2	G	T	T	T	546	42	DNAJC10	2	2
DNAJC10	54431	broad.mit.edu	37	2	183622484	183622484	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183622484G>A	uc002uow.1	+	c.1875G>A	c.(1873-1875)CAG>CAA	p.Q625Q	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.Q579Q|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			Pancreas(56;860 1183 25669 35822 48585)								0.244898	33.877394	36.780625	12	37	KEEP	---	---	---	---	capture		Silent	SNP	183622484	183622484	4812	2	G	A	A	A	451	35	DNAJC10	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801171	185801171	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801171G>A	uc002uph.2	+	c.1048G>A	c.(1048-1050)GGT>AGT	p.G350S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	350						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.195652	20.86104	24.823732	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801171	185801171	18768	2	G	A	A	A	611	47	ZNF804A	2	2
FAM171B	165215	broad.mit.edu	37	2	187605168	187605168	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187605168G>T	uc002ups.2	+	c.452G>T	c.(451-453)TGG>TTG	p.W151L	FAM171B_uc002upr.1_Missense_Mutation_p.W151L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	151	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10														0.107143	2.904302	7.192555	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187605168	187605168	5697	2	G	T	T	T	611	47	FAM171B	2	2
COL3A1	1281	broad.mit.edu	37	2	189876477	189876477	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189876477G>T	uc002uqj.1	+	c.4378G>T	c.(4378-4380)GTT>TTT	p.V1460F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1460	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.133333	14.188465	21.991285	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189876477	189876477	3826	2	G	T	T	T	520	40	COL3A1	1	1
MYO1B	4430	broad.mit.edu	37	2	192288625	192288625	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192288625A>C	uc010fsg.2	+	c.3350A>C	c.(3349-3351)AAT>ACT	p.N1117T	MYO1B_uc002usq.2_Missense_Mutation_p.N1059T|MYO1B_uc002usr.2_Missense_Mutation_p.N1117T|MYO1B_uc002usu.2_Missense_Mutation_p.N362T|MYO1B_uc002usv.2_Missense_Mutation_p.N233T	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	1117						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)											0.128	25.308297	42.183736	16	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192288625	192288625	10464	2	A	C	C	C	52	4	MYO1B	4	4
MYT1L	23040	broad.mit.edu	37	2	1926489	1926489	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1926489G>T	uc002qxe.2	-	c.1052C>A	c.(1051-1053)CCG>CAG	p.P351Q	MYT1L_uc002qxd.2_Missense_Mutation_p.P351Q|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	351					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.181818	13.334161	16.469423	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1926489	1926489	10502	2	G	T	T	T	507	39	MYT1L	1	1
HECW2	57520	broad.mit.edu	37	2	197183364	197183364	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197183364G>T	uc002utm.1	-	c.2250C>A	c.(2248-2250)GCC>GCA	p.A750A	HECW2_uc002utl.1_Silent_p.A394A	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	750	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.205882	15.711092	18.435028	7	27	KEEP	---	---	---	---	capture		Silent	SNP	197183364	197183364	7326	2	G	T	T	T	496	39	HECW2	1	1
HECW2	57520	broad.mit.edu	37	2	197185132	197185132	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197185132T>A	uc002utm.1	-	c.916A>T	c.(916-918)AGG>TGG	p.R306W	HECW2_uc002utl.1_Intron	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	306					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.269231	17.713645	18.963118	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197185132	197185132	7326	2	T	A	A	A	726	56	HECW2	3	3
NIF3L1	60491	broad.mit.edu	37	2	201758087	201758087	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201758087A>T	uc002uwm.2	+	c.555A>T	c.(553-555)GCA>GCT	p.A185A	NIF3L1_uc002uwl.2_Silent_p.A158A|NIF3L1_uc002uwn.2_Silent_p.A158A|NIF3L1_uc002uwo.2_Silent_p.A185A|NIF3L1_uc002uwp.2_Silent_p.A185A|NIF3L1_uc002uwq.2_Silent_p.A185A	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 isoform 1	185					positive regulation of transcription, DNA-dependent		transcription factor binding				0														0.122222	15.970315	28.539642	11	79	KEEP	---	---	---	---	capture		Silent	SNP	201758087	201758087	10817	2	A	T	T	T	80	7	NIF3L1	3	3
TRAK2	66008	broad.mit.edu	37	2	202245493	202245493	+	Nonsense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202245493T>A	uc002uyb.3	-	c.2518A>T	c.(2518-2520)AGA>TGA	p.R840*		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	840				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0														0.197183	24.650109	30.803554	14	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	202245493	202245493	16994	2	T	A	A	A	700	54	TRAK2	5	3
PUM2	23369	broad.mit.edu	37	2	20463123	20463123	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20463123T>G	uc002rds.1	-	c.2056A>C	c.(2056-2058)AGC>CGC	p.S686R	PUM2_uc002rdq.1_Missense_Mutation_p.S63R|PUM2_uc002rdt.1_Missense_Mutation_p.S686R|PUM2_uc002rdr.2_Missense_Mutation_p.S546R|PUM2_uc010yjy.1_Missense_Mutation_p.S607R|PUM2_uc002rdu.1_Missense_Mutation_p.S686R|PUM2_uc010yjz.1_Missense_Mutation_p.S625R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	686	Ser-rich.				regulation of translation	perinuclear region of cytoplasm	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.218182	23.986253	28.00448	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20463123	20463123	13284	2	T	G	G	G	715	55	PUM2	4	4
PARD3B	117583	broad.mit.edu	37	2	206364738	206364738	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206364738G>T	uc002var.1	+	c.3163G>T	c.(3163-3165)GAG>TAG	p.E1055*	PARD3B_uc002vao.1_Nonsense_Mutation_p.E954*|PARD3B_uc002vap.1_Nonsense_Mutation_p.E993*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E986*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1055					cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.162162	33.185175	45.234089	18	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	206364738	206364738	11861	2	G	T	T	T	585	45	PARD3B	5	2
LOC200726	200726	broad.mit.edu	37	2	207508998	207508998	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207508998C>T	uc010fuh.1	+	c.38C>T	c.(37-39)CCC>CTC	p.P13L		NM_001102659	NP_001096129			hypothetical protein LOC200726												0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)										0.210526	9.790037	11.262375	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207508998	207508998	9212	2	C	T	T	T	286	22	LOC200726	2	2
DYTN	391475	broad.mit.edu	37	2	207572137	207572137	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207572137A>T	uc002vbr.1	-	c.185T>A	c.(184-186)CTT>CAT	p.L62H		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	62						plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.444444	12.098579	12.122824	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207572137	207572137	5047	2	A	T	T	T	39	3	DYTN	3	3
CPS1	1373	broad.mit.edu	37	2	211464127	211464127	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211464127C>G	uc010fur.2	+	c.1409C>G	c.(1408-1410)CCA>CGA	p.P470R	CPS1_uc002vee.3_Missense_Mutation_p.P464R|CPS1_uc010fus.2_Missense_Mutation_p.P13R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	464					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.2	28.301899	34.189941	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211464127	211464127	3961	2	C	G	G	G	273	21	CPS1	3	3
CPS1	1373	broad.mit.edu	37	2	211513207	211513207	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211513207T>C	uc010fur.2	+	c.3365T>C	c.(3364-3366)CTG>CCG	p.L1122P	CPS1_uc002vee.3_Missense_Mutation_p.L1116P|CPS1_uc010fus.2_Missense_Mutation_p.L665P	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1116	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.148148	11.250657	17.704954	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211513207	211513207	3961	2	T	C	C	C	715	55	CPS1	4	4
ERBB4	2066	broad.mit.edu	37	2	212251644	212251644	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212251644G>T	uc002veg.1	-	c.3415C>A	c.(3415-3417)CGG>AGG	p.R1139R	ERBB4_uc002veh.1_Silent_p.R1123R|ERBB4_uc010zji.1_Silent_p.R1129R|ERBB4_uc010zjj.1_Silent_p.R1113R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1139	Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.20339	30.272816	35.086832	12	47	KEEP	---	---	---	---	capture		Silent	SNP	212251644	212251644	5402	2	G	T	T	T	519	40	ERBB4	1	1
APOB	338	broad.mit.edu	37	2	21227527	21227527	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21227527C>T	uc002red.2	-	c.11809G>A	c.(11809-11811)GAA>AAA	p.E3937K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3937					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.202381	36.770615	43.651731	17	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21227527	21227527	796	2	C	T	T	T	403	31	APOB	1	1
APOB	338	broad.mit.edu	37	2	21230966	21230966	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21230966C>A	uc002red.2	-	c.8774G>T	c.(8773-8775)GGA>GTA	p.G2925V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2925					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.165289	35.709131	48.507051	20	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21230966	21230966	796	2	C	A	A	A	390	30	APOB	2	2
APOB	338	broad.mit.edu	37	2	21234459	21234459	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21234459C>T	uc002red.2	-	c.5281G>A	c.(5281-5283)GGC>AGC	p.G1761S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1761					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.201613	63.921706	74.16766	25	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21234459	21234459	796	2	C	T	T	T	312	24	APOB	2	2
SPAG16	79582	broad.mit.edu	37	2	214204937	214204937	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214204937G>T	uc002veq.2	+	c.587G>T	c.(586-588)CGA>CTA	p.R196L	SPAG16_uc010fuz.1_Missense_Mutation_p.R47L|SPAG16_uc002ver.2_Missense_Mutation_p.R142L|SPAG16_uc010zjk.1_Missense_Mutation_p.R102L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.R165L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	196	Potential.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.135135	9.251053	14.023121	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214204937	214204937	15481	2	G	T	T	T	481	37	SPAG16	1	1
ABCA12	26154	broad.mit.edu	37	2	215914396	215914396	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215914396G>C	uc002vew.2	-	c.647C>G	c.(646-648)ACC>AGC	p.T216S	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	216					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.2	20.51765	23.83553	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215914396	215914396	31	2	G	C	C	C	572	44	ABCA12	3	3
FN1	2335	broad.mit.edu	37	2	216272915	216272915	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216272915C>T	uc002vfa.2	-	c.2434G>A	c.(2434-2436)GAT>AAT	p.D812N	FN1_uc002vfb.2_Missense_Mutation_p.D812N|FN1_uc002vfc.2_Missense_Mutation_p.D812N|FN1_uc002vfd.2_Missense_Mutation_p.D812N|FN1_uc002vfe.2_Missense_Mutation_p.D812N|FN1_uc002vff.2_Missense_Mutation_p.D812N|FN1_uc002vfg.2_Missense_Mutation_p.D812N|FN1_uc002vfh.2_Missense_Mutation_p.D812N|FN1_uc002vfi.2_Missense_Mutation_p.D812N|FN1_uc002vfj.2_Missense_Mutation_p.D812N	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	812	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)					1374				0.232558	22.224521	25.045798	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216272915	216272915	6204	2	C	T	T	T	377	29	FN1	2	2
XRCC5	7520	broad.mit.edu	37	2	217069067	217069067	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217069067C>G	uc002vfy.2	+	c.2132C>G	c.(2131-2133)CCA>CGA	p.P711R	XRCC5_uc002vfz.2_Missense_Mutation_p.P597R	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	711					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|telomeric DNA binding			kidney(1)	1		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)										0.174603	19.501897	25.789489	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217069067	217069067	18039	2	C	G	G	G	273	21	XRCC5	3	3
CXCR2	3579	broad.mit.edu	37	2	219000380	219000380	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219000380T>C	uc002vgz.1	+	c.856T>C	c.(856-858)TGT>CGT	p.C286R	CXCR2_uc002vha.1_Missense_Mutation_p.C286R|CXCR2_uc002vhb.1_Missense_Mutation_p.C286R	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	286	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)	1										62				0.150685	17.67564	26.214407	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219000380	219000380	4251	2	T	C	C	C	715	55	CXCR2	4	4
SPEG	10290	broad.mit.edu	37	2	220354469	220354469	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220354469C>A	uc010fwg.2	+	c.8729C>A	c.(8728-8730)CCA>CAA	p.P2910Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2910	Pro-rich.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.236111	38.856258	43.429411	17	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220354469	220354469	15548	2	C	A	A	A	273	21	SPEG	2	2
SPEG	10290	broad.mit.edu	37	2	220354645	220354645	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220354645C>A	uc010fwg.2	+	c.8905C>A	c.(8905-8907)CTG>ATG	p.L2969M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2969	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)						482				0.32	21.289898	22.010281	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220354645	220354645	15548	2	C	A	A	A	311	24	SPEG	2	2
SLC4A3	6508	broad.mit.edu	37	2	220493218	220493218	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220493218G>C	uc002vmo.3	+	c.143G>C	c.(142-144)GGG>GCG	p.G48A	SLC4A3_uc002vmn.2_Missense_Mutation_p.G48A|SLC4A3_uc002vmp.3_Missense_Mutation_p.G48A|SLC4A3_uc010fwm.2_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	48	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.2	10.375375	12.999548	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220493218	220493218	15152	2	G	C	C	C	559	43	SLC4A3	3	3
SPHKAP	80309	broad.mit.edu	37	2	228882377	228882377	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882377G>T	uc002vpq.2	-	c.3193C>A	c.(3193-3195)CCC>ACC	p.P1065T	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1065T|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1065T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1065						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.177419	15.971588	22.084563	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228882377	228882377	15560	2	G	T	T	T	533	41	SPHKAP	2	2
PSMD1	5707	broad.mit.edu	37	2	231926996	231926996	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231926996A>G	uc002vrn.1	+	c.95A>G	c.(94-96)AAT>AGT	p.N32S	PSMD1_uc002vrm.1_Missense_Mutation_p.N32S|PSMD1_uc010fxu.1_5'UTR	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)	1		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)									0.210526	11.107161	12.566895	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231926996	231926996	13145	2	A	G	G	G	52	4	PSMD1	4	4
PRR21	643905	broad.mit.edu	37	2	240981267	240981267	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240981267A>T	uc010zod.1	-	c.1133T>A	c.(1132-1134)CTT>CAT	p.L378H		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	378										ovary(1)	1														0.102564	2.269843	8.412838	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240981267	240981267	13040	2	A	T	T	T	39	3	PRR21	3	3
OTOS	150677	broad.mit.edu	37	2	241078728	241078728	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241078728G>T	uc002vyv.2	-	c.129C>A	c.(127-129)TCC>TCA	p.S43S	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	otospiralin precursor	43						extracellular region					0		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)										0.185185	27.273564	34.821649	15	66	KEEP	---	---	---	---	capture		Silent	SNP	241078728	241078728	11721	2	G	T	T	T	600	47	OTOS	2	2
RNPEPL1	57140	broad.mit.edu	37	2	241513651	241513651	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241513651G>C	uc002vzi.2	+	c.367G>C	c.(367-369)GAG>CAG	p.E123Q	RNPEPL1_uc010fzf.2_5'UTR|RNPEPL1_uc002vzj.2_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	123		By similarity.			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)										0.135593	12.560742	20.19024	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241513651	241513651	13989	2	G	C	C	C	481	37	RNPEPL1	3	3
PASK	23178	broad.mit.edu	37	2	242077446	242077446	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242077446C>A	uc010fzl.1	-	c.798G>T	c.(796-798)GGG>GGT	p.G266G	PASK_uc010zol.1_Silent_p.G80G|PASK_uc002wao.1_Silent_p.G266G|PASK_uc010zom.1_Intron|PASK_uc010zon.1_Silent_p.G47G|PASK_uc002waq.2_Silent_p.G266G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	266					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.194444	12.196299	15.343059	7	29	KEEP	---	---	---	---	capture		Silent	SNP	242077446	242077446	11889	2	C	A	A	A	275	22	PASK	2	2
PASK	23178	broad.mit.edu	37	2	242079351	242079351	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242079351G>T	uc010fzl.1	-	c.549C>A	c.(547-549)AGC>AGA	p.S183R	PASK_uc010zol.1_Intron|PASK_uc002wao.1_Missense_Mutation_p.S183R|PASK_uc010zom.1_Missense_Mutation_p.S183R|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.S183R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	183	PAS 1.				protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.148148	8.186803	11.391168	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242079351	242079351	11889	2	G	T	T	T	490	38	PASK	1	1
D2HGDH	728294	broad.mit.edu	37	2	242689675	242689675	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242689675C>G	uc002wce.1	+	c.963C>G	c.(961-963)GTC>GTG	p.V321V	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.V187V|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Non-coding_Transcript|D2HGDH_uc002wci.2_Silent_p.V20V	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	321					2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)										0.152174	12.151498	17.436843	7	39	KEEP	---	---	---	---	capture		Silent	SNP	242689675	242689675	4379	2	C	G	G	G	392	31	D2HGDH	3	3
NEU4	129807	broad.mit.edu	37	2	242758367	242758367	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242758367C>A	uc002wcn.1	+	c.1484C>A	c.(1483-1485)CCC>CAC	p.P495H	NEU4_uc002wcl.2_Non-coding_Transcript|NEU4_uc010fzr.2_Missense_Mutation_p.P483H|NEU4_uc002wcm.2_Missense_Mutation_p.P483H|NEU4_uc002wco.1_Missense_Mutation_p.P483H|NEU4_uc002wcp.1_Missense_Mutation_p.P495H	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	483						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)										0.25	6.818521	7.500912	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242758367	242758367	10743	2	C	A	A	A	286	22	NEU4	2	2
ASXL2	55252	broad.mit.edu	37	2	25991666	25991666	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25991666C>A	uc002rgs.2	-	c.576G>T	c.(574-576)CAG>CAT	p.Q192H	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	192	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.162162	28.997286	41.043183	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25991666	25991666	1086	2	C	A	A	A	363	28	ASXL2	2	2
KIF3C	3797	broad.mit.edu	37	2	26152180	26152180	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26152180C>A	uc002rgu.2	-	c.2282G>T	c.(2281-2283)AGA>ATA	p.R761I	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.R759I	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	761	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.191489	15.197978	19.454663	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26152180	26152180	8613	2	C	A	A	A	416	32	KIF3C	2	2
OTOF	9381	broad.mit.edu	37	2	26699016	26699016	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26699016G>T	uc002rhk.2	-	c.2846C>A	c.(2845-2847)CCC>CAC	p.P949H	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.P202H|OTOF_uc002rhi.2_Missense_Mutation_p.P259H|OTOF_uc002rhj.2_Missense_Mutation_p.P202H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	949	Cytoplasmic (Potential).|C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.275862	18.686829	20.000382	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26699016	26699016	11715	2	G	T	T	T	559	43	OTOF	2	2
OTOF	9381	broad.mit.edu	37	2	26706330	26706330	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26706330C>T	uc002rhk.2	-	c.1392G>A	c.(1390-1392)AAG>AAA	p.K464K		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	464	Cytoplasmic (Potential).|C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.171429	12.8277	16.39983	6	29	KEEP	---	---	---	---	capture		Silent	SNP	26706330	26706330	11715	2	C	T	T	T	311	24	OTOF	2	2
PLB1	151056	broad.mit.edu	37	2	28816594	28816594	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28816594C>A	uc002rmb.1	+	c.2294C>A	c.(2293-2295)ACC>AAC	p.T765N	PLB1_uc010ezj.1_Missense_Mutation_p.T754N|PLB1_uc002rmc.2_Missense_Mutation_p.T453N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	765	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.181818	10.745609	13.874541	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28816594	28816594	12450	2	C	A	A	A	234	18	PLB1	2	2
ALK	238	broad.mit.edu	37	2	29416528	29416528	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29416528G>T	uc002rmy.2	-	c.4425C>A	c.(4423-4425)CAC>CAA	p.H1475Q	ALK_uc010ymo.1_Missense_Mutation_p.H407Q	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1475	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.235294	53.075037	58.510349	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29416528	29416528	528	2	G	T	T	T	516	40	ALK	1	1
ALK	238	broad.mit.edu	37	2	29450489	29450489	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29450489C>A	uc002rmy.2	-	c.2865G>T	c.(2863-2865)GGG>GGT	p.G955G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	955	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.174419	23.368243	31.983904	15	71	KEEP	---	---	---	---	capture		Silent	SNP	29450489	29450489	528	2	C	A	A	A	275	22	ALK	2	2
ALK	238	broad.mit.edu	37	2	29917834	29917834	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29917834A>T	uc002rmy.2	-	c.834T>A	c.(832-834)CCT>CCA	p.P278P		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	278	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.218391	42.278357	48.645456	19	68	KEEP	---	---	---	---	capture		Silent	SNP	29917834	29917834	528	2	A	T	T	T	132	11	ALK	3	3
XDH	7498	broad.mit.edu	37	2	31599964	31599964	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31599964T>G	uc002rnv.1	-	c.1382A>C	c.(1381-1383)AAC>ACC	p.N461T		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	461					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.150685	23.4795	32.011871	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31599964	31599964	18007	2	T	G	G	G	780	60	XDH	4	4
TTC27	55622	broad.mit.edu	37	2	32958990	32958990	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32958990G>T	uc002rom.2	+	c.1329G>T	c.(1327-1329)CAG>CAT	p.Q443H	TTC27_uc010ymx.1_Missense_Mutation_p.Q393H|TTC27_uc002ron.2_Non-coding_Transcript	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	443	TPR 1.						protein binding			central_nervous_system(1)	1														0.157143	21.889929	29.73129	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32958990	32958990	17249	2	G	T	T	T	451	35	TTC27	2	2
LTBP1	4052	broad.mit.edu	37	2	33500076	33500076	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33500076C>A	uc002ros.2	+	c.2791C>A	c.(2791-2793)CGC>AGC	p.R931S	LTBP1_uc002rot.2_Missense_Mutation_p.R605S|LTBP1_uc002rou.2_Missense_Mutation_p.R604S|LTBP1_uc002rov.2_Missense_Mutation_p.R551S|LTBP1_uc010ymz.1_Missense_Mutation_p.R604S|LTBP1_uc010yna.1_Missense_Mutation_p.R551S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	930	EGF-like 5; calcium-binding (Potential).				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)												0.186667	29.929121	36.811473	14	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33500076	33500076	9449	2	C	A	A	A	299	23	LTBP1	1	1
HEATR5B	54497	broad.mit.edu	37	2	37280682	37280682	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37280682T>A	uc002rpp.1	-	c.2468A>T	c.(2467-2469)CAG>CTG	p.Q823L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	823							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.232558	25.134386	27.946057	10	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37280682	37280682	7315	2	T	A	A	A	715	55	HEATR5B	3	3
HEATR5B	54497	broad.mit.edu	37	2	37280747	37280747	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37280747T>G	uc002rpp.1	-	c.2403A>C	c.(2401-2403)TTA>TTC	p.L801F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	801							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.217391	12.46277	14.156562	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37280747	37280747	7315	2	T	G	G	G	738	57	HEATR5B	4	4
SLC8A1	6546	broad.mit.edu	37	2	40397428	40397428	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40397428G>T	uc002rrx.2	-	c.2031C>A	c.(2029-2031)ACC>ACA	p.T677T	SLC8A1_uc002rry.2_Silent_p.T672T|SLC8A1_uc002rrz.2_Silent_p.T664T|SLC8A1_uc002rsa.2_Intron|SLC8A1_uc002rsd.3_Intron|SLC8A1_uc002rsb.1_Silent_p.T669T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	677	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.166667	12.045854	15.823694	6	30	KEEP	---	---	---	---	capture		Silent	SNP	40397428	40397428	15203	2	G	T	T	T	600	47	SLC8A1	2	2
SLC8A1	6546	broad.mit.edu	37	2	40656313	40656313	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656313G>T	uc002rrx.2	-	c.1108C>A	c.(1108-1110)CGC>AGC	p.R370S	SLC8A1_uc002rry.2_Missense_Mutation_p.R370S|SLC8A1_uc002rrz.2_Missense_Mutation_p.R370S|SLC8A1_uc002rsa.2_Missense_Mutation_p.R370S|SLC8A1_uc002rsd.3_Missense_Mutation_p.R370S|SLC8A1_uc002rsb.1_Missense_Mutation_p.R370S|SLC8A1_uc010fan.1_Missense_Mutation_p.R370S|SLC8A1_uc002rsc.1_Missense_Mutation_p.R370S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	370	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.223404	49.826398	56.439034	21	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40656313	40656313	15203	2	G	T	T	T	481	37	SLC8A1	1	1
SLC8A1	6546	broad.mit.edu	37	2	40656998	40656998	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40656998G>C	uc002rrx.2	-	c.423C>G	c.(421-423)GCC>GCG	p.A141A	SLC8A1_uc002rry.2_Silent_p.A141A|SLC8A1_uc002rrz.2_Silent_p.A141A|SLC8A1_uc002rsa.2_Silent_p.A141A|SLC8A1_uc002rsd.3_Silent_p.A141A|SLC8A1_uc002rsb.1_Silent_p.A141A|SLC8A1_uc010fan.1_Silent_p.A141A|SLC8A1_uc002rsc.1_Silent_p.A141A	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	141	Helical; (Potential).|Alpha-1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.119048	11.083122	23.071998	10	74	KEEP	---	---	---	---	capture		Silent	SNP	40656998	40656998	15203	2	G	C	C	C	548	43	SLC8A1	3	3
PRKCE	5581	broad.mit.edu	37	2	46378245	46378245	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46378245G>A	uc002rut.2	+	c.1797G>A	c.(1795-1797)GAG>GAA	p.E599E		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	599	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation|protein phosphorylation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(3)|ovary(2)|large_intestine(1)|kidney(1)	7		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)							460				0.1875	7.215781	8.678526	3	13	KEEP	---	---	---	---	capture		Silent	SNP	46378245	46378245	12954	2	G	A	A	A	425	33	PRKCE	2	2
FSHR	2492	broad.mit.edu	37	2	49190937	49190937	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49190937C>T	uc002rww.2	-	c.1023G>A	c.(1021-1023)GTG>GTA	p.V341V	FSHR_uc002rwx.2_Silent_p.V279V|FSHR_uc010fbn.2_Silent_p.V315V	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	341	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.134831	17.070455	28.562645	12	77	KEEP	---	---	---	---	capture		Silent	SNP	49190937	49190937	6324	2	C	T	T	T	262	21	FSHR	2	2
NRXN1	9378	broad.mit.edu	37	2	50765423	50765423	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50765423C>A	uc010fbq.2	-	c.2231G>T	c.(2230-2232)GGA>GTA	p.G744V	NRXN1_uc002rxb.3_Missense_Mutation_p.G376V|NRXN1_uc002rxe.3_Missense_Mutation_p.G704V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.156028	36.168731	52.091217	22	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50765423	50765423	11070	2	C	A	A	A	390	30	NRXN1	2	2
BCL11A	53335	broad.mit.edu	37	2	60689034	60689035	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:60689034_60689035GG>AA	uc002sae.1	-	c.1012_1013CC>TT	c.(1012-1014)CCT>TTT	p.P338F	BCL11A_uc002sab.2_Missense_Mutation_p.P338F|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P304F|BCL11A_uc002sad.1_Missense_Mutation_p.P186F|BCL11A_uc002saf.1_Missense_Mutation_p.P304F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	338	Pro-rich.				protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)							131				0.114583	13.669317	27.714642	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	60689034	60689035	1384	2	GG	AA	AA	AA	455	35	BCL11A	2	2
PLEK	5341	broad.mit.edu	37	2	68607577	68607577	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68607577A>T	uc002sen.3	+	c.160A>T	c.(160-162)ACT>TCT	p.T54S	PLEK_uc010fde.2_Missense_Mutation_p.T54S	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	54	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)										0.090909	1.866907	9.289889	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68607577	68607577	12479	2	A	T	T	T	78	6	PLEK	3	3
ARHGAP25	9938	broad.mit.edu	37	2	69046344	69046344	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69046344C>A	uc010fdg.2	+	c.1093C>A	c.(1093-1095)CCT>ACT	p.P365T	ARHGAP25_uc002seu.2_Missense_Mutation_p.P364T|ARHGAP25_uc010yql.1_Missense_Mutation_p.P325T|ARHGAP25_uc002sev.2_Missense_Mutation_p.P358T|ARHGAP25_uc002sew.2_Missense_Mutation_p.P357T|ARHGAP25_uc002sex.2_Missense_Mutation_p.P358T|ARHGAP25_uc002sey.2_Missense_Mutation_p.P91T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	364					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.231343	68.028937	76.922633	31	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69046344	69046344	886	2	C	A	A	A	286	22	ARHGAP25	2	2
RSAD2	91543	broad.mit.edu	37	2	7030450	7030450	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:7030450C>A	uc002qyp.1	+	c.882C>A	c.(880-882)AAC>AAA	p.N294K		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing	294					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)										0.166667	11.926794	15.719681	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7030450	7030450	14175	2	C	A	A	A	233	18	RSAD2	2	2
LOXL3	84695	broad.mit.edu	37	2	74764011	74764011	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74764011A>T	uc002smp.1	-	c.737T>A	c.(736-738)GTG>GAG	p.V246E	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.V246E|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	246	SRCR 2.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0														0.133333	9.16163	14.99743	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74764011	74764011	9274	2	A	T	T	T	78	6	LOXL3	3	3
DOK1	1796	broad.mit.edu	37	2	74783136	74783136	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74783136C>T	uc002sms.2	+	c.570C>T	c.(568-570)GCC>GCT	p.A190A	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Silent_p.A51A|DOK1_uc010ffo.2_Silent_p.A51A|DOK1_uc002smt.2_Intron|DOK1_uc002smu.2_Intron|DOK1_uc010yrz.1_Silent_p.A179A|DOK1_uc002smv.2_Silent_p.A51A|DOK1_uc002smw.1_5'UTR	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	190	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						Esophageal Squamous(36;520 860 12502 33616 51270)								0.09434	3.222384	11.906163	5	48	KEEP	---	---	---	---	capture		Silent	SNP	74783136	74783136	4880	2	C	T	T	T	275	22	DOK1	2	2
LRRTM4	80059	broad.mit.edu	37	2	77746810	77746810	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77746810C>A	uc002snr.2	-	c.185G>T	c.(184-186)GGG>GTG	p.G62V	LRRTM4_uc002snq.2_Missense_Mutation_p.G62V|LRRTM4_uc002sns.2_Missense_Mutation_p.G62V|LRRTM4_uc002snt.2_Missense_Mutation_p.G63V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	62	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.118644	8.479779	16.910239	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77746810	77746810	9418	2	C	A	A	A	286	22	LRRTM4	2	2
REG1A	5967	broad.mit.edu	37	2	79348047	79348047	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79348047C>A	uc002snz.2	+	c.60C>A	c.(58-60)AGC>AGA	p.S20R	REG1A_uc010ffx.1_Missense_Mutation_p.S20R|REG1A_uc010ysd.1_Missense_Mutation_p.S20R	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	20					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.135135	6.453703	11.227437	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79348047	79348047	13679	2	C	A	A	A	337	26	REG1A	2	2
REG3A	5068	broad.mit.edu	37	2	79385498	79385498	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79385498C>G	uc002sod.1	-	c.287G>C	c.(286-288)GGT>GCT	p.G96A	REG3A_uc002soe.1_Missense_Mutation_p.G96A|REG3A_uc002sof.1_Missense_Mutation_p.G96A	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	96	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.196078	21.872218	26.335232	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79385498	79385498	13681	2	C	G	G	G	234	18	REG3A	3	3
KCMF1	56888	broad.mit.edu	37	2	85276557	85276557	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85276557G>A	uc002sox.3	+	c.670G>A	c.(670-672)GCT>ACT	p.A224T		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	224						intracellular	ligase activity|zinc ion binding			ovary(2)	2														0.111111	7.196149	16.601351	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85276557	85276557	8305	2	G	A	A	A	494	38	KCMF1	1	1
EIF2AK3	9451	broad.mit.edu	37	2	88913343	88913343	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88913343C>A	uc002stc.3	-	c.337G>T	c.(337-339)GGG>TGG	p.G113W		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	113	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GBM(138;671 1851 16235 39058 45249)				242				0.138462	13.428311	21.646525	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88913343	88913343	5187	2	C	A	A	A	273	21	EIF2AK3	2	2
KIDINS220	57498	broad.mit.edu	37	2	8891728	8891728	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:8891728C>T	uc002qzc.2	-	c.3058G>A	c.(3058-3060)GAA>AAA	p.E1020K	KIDINS220_uc010yiv.1_Missense_Mutation_p.E786K|KIDINS220_uc002qzd.2_Missense_Mutation_p.E978K|KIDINS220_uc010yiw.1_Missense_Mutation_p.E1021K|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.E25K	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1020	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)													0.220339	29.843758	34.092367	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8891728	8891728	8582	2	C	T	T	T	377	29	KIDINS220	2	2
RPIA	22934	broad.mit.edu	37	2	89037542	89037542	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:89037542G>C	uc002ste.2	+	c.787G>C	c.(787-789)GAC>CAC	p.D263H		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	263					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)												0.242424	45.265348	49.259787	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89037542	89037542	14032	2	G	C	C	C	585	45	RPIA	3	3
ASTL	431705	broad.mit.edu	37	2	96795703	96795703	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96795703C>A	uc010yui.1	-	c.734G>T	c.(733-735)CGG>CTG	p.R245L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	245					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.254902	33.726798	36.458174	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96795703	96795703	1082	2	C	A	A	A	299	23	ASTL	1	1
CNGA3	1261	broad.mit.edu	37	2	99013598	99013598	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99013598G>A	uc002syt.2	+	c.1965G>A	c.(1963-1965)CAG>CAA	p.Q655Q	CNGA3_uc002syu.2_Silent_p.Q637Q|CNGA3_uc010fij.2_Silent_p.Q659Q	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	655					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.222222	15.235558	17.152001	6	21	KEEP	---	---	---	---	capture		Silent	SNP	99013598	99013598	3736	2	G	A	A	A	425	33	CNGA3	2	2
ATP2B2	491	broad.mit.edu	37	3	10442757	10442757	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10442757G>T	uc003bvt.2	-	c.661C>A	c.(661-663)CTC>ATC	p.L221I	ATP2B2_uc003bvv.2_Missense_Mutation_p.L221I|ATP2B2_uc003bvw.2_Missense_Mutation_p.L221I|ATP2B2_uc010hdp.2_Missense_Mutation_p.L221I|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	221	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|central_nervous_system(1)	4						Ovarian(125;1619 1709 15675 19819 38835)								0.25	12.367577	13.502404	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10442757	10442757	1159	3	G	T	T	T	455	35	ATP2B2	2	2
ABHD10	55347	broad.mit.edu	37	3	111697944	111697944	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111697944G>C	uc003dyk.3	+	c.36G>C	c.(34-36)TGG>TGC	p.W12C	ABHD10_uc011bhq.1_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	12						mitochondrion	serine-type peptidase activity				0														0.28125	20.656606	22.036625	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111697944	111697944	75	3	G	C	C	C	559	43	ABHD10	3	3
CASR	846	broad.mit.edu	37	3	122003851	122003851	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122003851A>T	uc003eew.3	+	c.3080A>T	c.(3079-3081)CAG>CTG	p.Q1027L	CASR_uc003eev.3_Missense_Mutation_p.Q1017L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	1017	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)									0.219512	23.453373	26.423853	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122003851	122003851	2801	3	A	T	T	T	91	7	CASR	3	3
DNAJB8	165721	broad.mit.edu	37	3	128181690	128181690	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128181690G>A	uc003ekk.1	-	c.399C>T	c.(397-399)GCC>GCT	p.A133A		NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	133					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)										0.121212	5.27857	9.917373	4	29	KEEP	---	---	---	---	capture		Silent	SNP	128181690	128181690	4809	3	G	A	A	A	444	35	DNAJB8	2	2
MBD4	8930	broad.mit.edu	37	3	129151986	129151986	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129151986G>C	uc003emh.1	-	c.1516C>G	c.(1516-1518)CTT>GTT	p.L506V	MBD4_uc003emi.1_Missense_Mutation_p.L506V|MBD4_uc003emj.1_Missense_Mutation_p.L500V|MBD4_uc003emk.1_Missense_Mutation_p.L188V|MBD4_uc011bkw.1_Missense_Mutation_p.L506V	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	506					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2														0.166667	28.030065	36.244127	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129151986	129151986	9734	3	G	C	C	C	429	33	MBD4	3	3
COL6A6	131873	broad.mit.edu	37	3	130305379	130305379	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130305379G>C	uc010htl.2	+	c.4000G>C	c.(4000-4002)GAT>CAT	p.D1334H	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1334	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.1	7.452759	23.640549	10	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130305379	130305379	3841	3	G	C	C	C	533	41	COL6A6	3	3
PIK3R4	30849	broad.mit.edu	37	3	130463714	130463714	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130463714G>A	uc003enj.2	-	c.349C>T	c.(349-351)CGT>TGT	p.R117C		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	117	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|protein phosphorylation	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|kidney(1)|breast(1)|central_nervous_system(1)	6										587				0.253165	52.781335	57.139066	20	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130463714	130463714	12345	3	G	A	A	A	507	39	PIK3R4	1	1
CPNE4	131034	broad.mit.edu	37	3	131624169	131624169	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:131624169G>C	uc011blq.1	-	c.173C>G	c.(172-174)GCC>GGC	p.A58G	CPNE4_uc003eok.2_Missense_Mutation_p.A40G|CPNE4_uc003eol.2_Missense_Mutation_p.A58G|CPNE4_uc003eom.2_Missense_Mutation_p.A40G	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	40	C2 1.									central_nervous_system(1)	1														0.111111	9.154428	19.999444	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131624169	131624169	3952	3	G	C	C	C	546	42	CPNE4	3	3
TF	7018	broad.mit.edu	37	3	133494434	133494434	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133494434C>T	uc003epu.1	+	c.1845C>T	c.(1843-1845)TGC>TGT	p.C615C	TF_uc011blt.1_Silent_p.C488C|TF_uc003epw.1_Silent_p.C54C|TF_uc003epv.1_Silent_p.C615C	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	615	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)	1					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)									0.071429	-2.090031	11.075301	5	65	KEEP	---	---	---	---	capture		Silent	SNP	133494434	133494434	16313	3	C	T	T	T	350	27	TF	1	1
WNT7A	7476	broad.mit.edu	37	3	13916501	13916501	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:13916501G>T	uc003bye.1	-	c.241C>A	c.(241-243)CGC>AGC	p.R81S		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	81					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of JNK cascade|positive regulation of synaptogenesis|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)	2														0.157895	6.314422	8.433168	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13916501	13916501	17968	3	G	T	T	T	507	39	WNT7A	1	1
CLSTN2	64084	broad.mit.edu	37	3	140178589	140178589	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140178589C>A	uc003etn.2	+	c.1200C>A	c.(1198-1200)ATC>ATA	p.I400I	CLSTN2_uc003etm.2_Silent_p.I400I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	400	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.133333	5.404505	11.317114	6	39	KEEP	---	---	---	---	capture		Silent	SNP	140178589	140178589	3700	3	C	A	A	A	382	30	CLSTN2	2	2
TRIM42	287015	broad.mit.edu	37	3	140401413	140401413	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140401413C>A	uc003eto.1	+	c.451C>A	c.(451-453)CGG>AGG	p.R151R		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	151	RING-type.					intracellular	zinc ion binding			lung(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)|skin(1)	6										261				0.515464	162.223325	162.247768	50	47	KEEP	---	---	---	---	capture		Silent	SNP	140401413	140401413	17061	3	C	A	A	A	295	23	TRIM42	1	1
PAQR9	344838	broad.mit.edu	37	3	142681453	142681453	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142681453C>A	uc003evg.2	-	c.726G>T	c.(724-726)CTG>CTT	p.L242L	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	242	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.12963	10.188576	17.397785	7	47	KEEP	---	---	---	---	capture		Silent	SNP	142681453	142681453	11859	3	C	A	A	A	314	25	PAQR9	2	2
PLSCR4	57088	broad.mit.edu	37	3	145914458	145914458	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:145914458T>C	uc010huy.2	-	c.747A>G	c.(745-747)CCA>CCG	p.P249P	PLSCR4_uc010huz.2_Silent_p.P249P|PLSCR4_uc003evt.3_Silent_p.P249P|PLSCR4_uc010hva.2_Silent_p.P159P|PLSCR4_uc003evu.3_Silent_p.P144P	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	249	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0														0.155738	34.533925	48.39981	19	103	KEEP	---	---	---	---	capture		Silent	SNP	145914458	145914458	12538	3	T	C	C	C	652	51	PLSCR4	4	4
FGD5	152273	broad.mit.edu	37	3	14905750	14905750	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14905750C>A	uc003bzc.2	+	c.2641C>A	c.(2641-2643)CCC>ACC	p.P881T	FGD5_uc011avk.1_Missense_Mutation_p.P881T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	881					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														0.230769	21.570274	24.150094	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14905750	14905750	6073	3	C	A	A	A	286	22	FGD5	2	2
SIAH2	6478	broad.mit.edu	37	3	150460046	150460046	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:150460046C>A	uc003eyi.2	-	c.857G>T	c.(856-858)GGT>GTT	p.G286V		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	286	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)											0.109589	8.472563	19.465465	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150460046	150460046	14795	3	C	A	A	A	234	18	SIAH2	2	2
MED12L	116931	broad.mit.edu	37	3	151078261	151078261	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151078261G>T	uc003eyp.2	+	c.2721_splice	c.e19-1	p.G907_splice	MED12L_uc011bnz.1_Splice_Site_SNP_p.G767_splice|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Splice_Site_SNP_p.G71_splice	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.151786	56.187198	82.22594	34	190	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	151078261	151078261	9818	3	G	T	T	T	455	35	MED12L	5	2
P2RY1	5028	broad.mit.edu	37	3	152554428	152554428	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:152554428C>T	uc003ezq.2	+	c.857C>T	c.(856-858)GCC>GTC	p.A286V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	286	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)											0.111111	7.752229	18.515792	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152554428	152554428	11759	3	C	T	T	T	338	26	P2RY1	2	2
COLQ	8292	broad.mit.edu	37	3	15499752	15499752	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15499752C>A	uc003bzx.2	-	c.895G>T	c.(895-897)GTG>TTG	p.V299L	COLQ_uc003bzv.2_Missense_Mutation_p.V289L|COLQ_uc003bzz.2_Missense_Mutation_p.V290L|COLQ_uc010heo.2_Missense_Mutation_p.V265L|COLQ_uc003cac.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.V158L|COLQ_uc003cad.1_Non-coding_Transcript	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	299					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synapse					0														0.263158	55.282761	59.12722	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15499752	15499752	3851	3	C	A	A	A	221	17	COLQ	2	2
CCNL1	57018	broad.mit.edu	37	3	156866174	156866174	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156866174C>A	uc003fbf.2	-	c.1437G>T	c.(1435-1437)CGG>CGT	p.R479R	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Silent_p.R273R|CCNL1_uc003fbg.2_Non-coding_Transcript|CCNL1_uc011bor.1_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)											0.093023	7.882494	43.671973	20	195	KEEP	---	---	---	---	capture		Silent	SNP	156866174	156866174	3058	3	C	A	A	A	275	22	CCNL1	2	2
VEPH1	79674	broad.mit.edu	37	3	157178033	157178033	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:157178033C>A	uc003fbj.1	-	c.466G>T	c.(466-468)GCA>TCA	p.A156S	VEPH1_uc003fbk.1_Missense_Mutation_p.A156S|VEPH1_uc010hvu.1_Missense_Mutation_p.A156S|VEPH1_uc003fbm.2_Missense_Mutation_p.A156S|VEPH1_uc003fbn.2_Missense_Mutation_p.A156S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	156						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)											0.436782	114.37735	114.688748	38	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157178033	157178033	17721	3	C	A	A	A	325	25	VEPH1	2	2
MFSD1	64747	broad.mit.edu	37	3	158537473	158537473	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158537473T>A	uc003fcl.1	+	c.688T>A	c.(688-690)TTG>ATG	p.L230M	MFSD1_uc003fcm.1_Non-coding_Transcript|MFSD1_uc003fcn.1_Missense_Mutation_p.L133M|MFSD1_uc011bow.1_Missense_Mutation_p.L191M|MFSD1_uc011box.1_Missense_Mutation_p.L157M	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	230	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			Pancreas(62;1186 1654 36636 37908)								0.394737	41.535448	41.927225	15	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158537473	158537473	9917	3	T	A	A	A	725	56	MFSD1	3	3
MFSD1	64747	broad.mit.edu	37	3	158538032	158538032	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158538032G>C	uc003fcl.1	+	c.780G>C	c.(778-780)AAG>AAC	p.K260N	MFSD1_uc003fcm.1_Non-coding_Transcript|MFSD1_uc003fcn.1_Missense_Mutation_p.K163N|MFSD1_uc011bow.1_Missense_Mutation_p.K221N|MFSD1_uc011box.1_Missense_Mutation_p.K187N	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	260					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			Pancreas(62;1186 1654 36636 37908)								0.084337	2.761129	17.319336	7	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158538032	158538032	9917	3	G	C	C	C	451	35	MFSD1	3	3
IL12A	3592	broad.mit.edu	37	3	159706910	159706910	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:159706910G>T	uc003fcx.2	+	c.67G>T	c.(67-69)GCG>TCG	p.A23S		NM_000882	NP_000873	P29459	IL12A_HUMAN	interleukin 12A precursor	Error:Variant_position_missing_in_P29459_after_alignment					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)									OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	9.991782	10.901167	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159706910	159706910	7925	3	G	T	T	T	442	34	IL12A	2	2
SI	6476	broad.mit.edu	37	3	164777083	164777083	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164777083G>T	uc003fei.2	-	c.1151C>A	c.(1150-1152)ACA>AAA	p.T384K		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	384	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.37037	63.937271	64.71402	20	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164777083	164777083	14792	3	G	T	T	T	624	48	SI	2	2
SI	6476	broad.mit.edu	37	3	164777759	164777759	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164777759G>T	uc003fei.2	-	c.1077C>A	c.(1075-1077)CGC>CGA	p.R359R		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	359	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.390863	217.300343	219.361092	77	120	KEEP	---	---	---	---	capture		Silent	SNP	164777759	164777759	14792	3	G	T	T	T	431	34	SI	2	2
BCHE	590	broad.mit.edu	37	3	165548187	165548187	+	Missense_Mutation	SNP	G	T	T	rs114706984	by1000genomes	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165548187G>T	uc003fem.3	-	c.635C>A	c.(634-636)GCC>GAC	p.A212D	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	212					acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.37234	99.009957	100.351626	35	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165548187	165548187	1379	3	G	T	T	T	546	42	BCHE	2	2
SLC7A14	57709	broad.mit.edu	37	3	170184886	170184886	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170184886T>C	uc003fgz.2	-	c.2273A>G	c.(2272-2274)GAG>GGG	p.E758G	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	758						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.226277	81.972531	91.384129	31	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170184886	170184886	15193	3	T	C	C	C	702	54	SLC7A14	4	4
PLD1	5337	broad.mit.edu	37	3	171394595	171394595	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171394595C>A	uc003fhs.2	-	c.2025G>T	c.(2023-2025)CGG>CGT	p.R675R	PLD1_uc003fht.2_Silent_p.R637R|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_5'UTR	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	675	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.513514	57.320417	57.32615	19	18	KEEP	---	---	---	---	capture		Silent	SNP	171394595	171394595	12471	3	C	A	A	A	379	30	PLD1	2	2
PLD1	5337	broad.mit.edu	37	3	171404495	171404495	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:171404495C>A	uc003fhs.2	-	c.1847G>T	c.(1846-1848)GGA>GTA	p.G616V	PLD1_uc003fht.2_Intron	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	616	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)	2	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	NSCLC(149;2174 3517 34058)				595				0.421429	168.105983	168.832047	59	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171404495	171404495	12471	3	C	A	A	A	390	30	PLD1	2	2
SPATA16	83893	broad.mit.edu	37	3	172835507	172835507	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172835507G>T	uc003fin.3	-	c.15C>A	c.(13-15)AGC>AGA	p.S5R		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	5					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.078014	-2.103999	23.496195	11	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172835507	172835507	15509	3	G	T	T	T	594	46	SPATA16	2	2
MRPL47	57129	broad.mit.edu	37	3	179316492	179316492	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179316492G>C	uc003fjz.2	-	c.373C>G	c.(373-375)CCA>GCA	p.P125A	MRPL47_uc003fka.2_Missense_Mutation_p.P15A|MRPL47_uc003fkb.2_Missense_Mutation_p.P105A	NM_020409	NP_065142	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47 isoform a	125					translation	mitochondrial ribosome	structural constituent of ribosome				0	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)											0.309524	75.785436	78.524356	26	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179316492	179316492	10204	3	G	C	C	C	546	42	MRPL47	3	3
PEX5L	51555	broad.mit.edu	37	3	179537683	179537683	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179537683C>A	uc003fki.1	-	c.904G>T	c.(904-906)GCC>TCC	p.A302S	PEX5L_uc011bqd.1_Missense_Mutation_p.A259S|PEX5L_uc011bqe.1_Missense_Mutation_p.A110S|PEX5L_uc011bqf.1_Missense_Mutation_p.A194S|PEX5L_uc003fkj.1_Missense_Mutation_p.A267S|PEX5L_uc010hxd.1_Missense_Mutation_p.A300S|PEX5L_uc011bqg.1_Missense_Mutation_p.A278S|PEX5L_uc011bqh.1_Missense_Mutation_p.A243S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	302					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)							648				0.089744	2.88756	16.118438	7	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179537683	179537683	12171	3	C	A	A	A	364	28	PEX5L	2	2
ABCC5	10057	broad.mit.edu	37	3	183643372	183643372	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183643372C>A	uc003fmg.2	-	c.4183G>T	c.(4183-4185)GAT>TAT	p.D1395Y	ABCC5_uc011bqt.1_Missense_Mutation_p.D923Y|ABCC5_uc010hxl.2_Missense_Mutation_p.D1352Y	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1395	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.127273	10.10006	17.539786	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183643372	183643372	57	3	C	A	A	A	403	31	ABCC5	1	1
HTR3C	170572	broad.mit.edu	37	3	183774708	183774708	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183774708C>A	uc003fmk.2	+	c.435C>A	c.(433-435)AGC>AGA	p.S145R		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	145	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)											0.078261	-0.29682	20.592645	9	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183774708	183774708	7746	3	C	A	A	A	324	25	HTR3C	2	2
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:18427954C>A	uc003cbi.2	-	c.1356G>T	c.(1354-1356)TTG>TTT	p.L452F	SATB1_uc003cbh.2_Missense_Mutation_p.L452F|SATB1_uc003cbj.2_Missense_Mutation_p.L452F	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	452					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			ovary(1)|lung(1)|skin(1)	3														0.2375	43.49391	48.525926	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18427954	18427954	14334	3	C	A	A	A	376	29	SATB1	2	2
OSTN	344901	broad.mit.edu	37	3	190930383	190930383	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190930383G>T	uc011bsn.1	+	c.62G>T	c.(61-63)AGC>ATC	p.S21I		NM_198184	NP_937827	P61366	OSTN_HUMAN	osteocrin precursor	21					cell differentiation|multicellular organismal development|ossification		hormone activity			pancreas(1)	1	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)										0.5	34.724574	34.724574	11	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190930383	190930383	11711	3	G	T	T	T	442	34	OSTN	2	2
RAB5A	5868	broad.mit.edu	37	3	20017161	20017161	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:20017161G>C	uc003cbn.2	+	c.232G>C	c.(232-234)GGT>CGT	p.G78R	RAB5A_uc010hey.2_Non-coding_Transcript|RAB5A_uc011awg.1_Missense_Mutation_p.G64R	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	78	GTP.				blood coagulation|protein transport|receptor internalization|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0														0.34	50.757869	51.890172	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20017161	20017161	13407	3	G	C	C	C	611	47	RAB5A	3	3
CNTN4	152330	broad.mit.edu	37	3	2967317	2967317	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2967317A>T	uc003bpc.2	+	c.1212A>T	c.(1210-1212)GTA>GTT	p.V404V	CNTN4_uc003bpb.1_Silent_p.V76V|CNTN4_uc003bpd.1_Silent_p.V404V|CNTN4_uc003bpe.2_Silent_p.V76V|CNTN4_uc003bpf.2_Silent_p.V76V	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	404					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.337662	75.832294	77.624005	26	51	KEEP	---	---	---	---	capture		Silent	SNP	2967317	2967317	3781	3	A	T	T	T	184	15	CNTN4	3	3
CCR4	1233	broad.mit.edu	37	3	32995815	32995815	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:32995815C>A	uc003cfg.1	+	c.901C>A	c.(901-903)CCC>ACC	p.P301T		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	301	Helical; Name=7; (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane					0										38				0.283019	35.822782	38.053681	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32995815	32995815	3070	3	C	A	A	A	390	30	CCR4	2	2
CLASP2	23122	broad.mit.edu	37	3	33557609	33557609	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33557609C>T	uc003cfu.2	-	c.4016G>A	c.(4015-4017)AGA>AAA	p.R1339K	CLASP2_uc003cfs.2_Missense_Mutation_p.R546K|CLASP2_uc003cft.2_Non-coding_Transcript|CLASP2_uc010hgb.2_Non-coding_Transcript	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	1127	Required for cortical localization.|HEAT 4.|Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.230769	8.318217	9.181641	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33557609	33557609	3591	3	C	T	T	T	416	32	CLASP2	2	2
CLASP2	23122	broad.mit.edu	37	3	33558651	33558651	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33558651T>A	uc003cfu.2	-	c.3803A>T	c.(3802-3804)CAT>CTT	p.H1268L	CLASP2_uc003cfs.2_Missense_Mutation_p.H475L|CLASP2_uc003cft.2_Non-coding_Transcript|CLASP2_uc010hgb.2_Non-coding_Transcript|CLASP2_uc011axt.1_Missense_Mutation_p.H868L	NM_015097	NP_055912	O75122	CLAP2_HUMAN	CLIP-associating protein 2	1056	Potential.|Required for cortical localization.|Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|microtubule anchoring|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	cell cortex|condensed chromosome kinetochore|cytoplasmic microtubule|cytosol|kinetochore microtubule|microtubule organizing center|trans-Golgi network	galactoside 2-alpha-L-fucosyltransferase activity|microtubule plus-end binding			ovary(3)|central_nervous_system(1)	4														0.461538	40.115527	40.146507	12	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33558651	33558651	3591	3	T	A	A	A	663	51	CLASP2	3	3
OXSR1	9943	broad.mit.edu	37	3	38287626	38287626	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38287626C>T	uc003chy.2	+	c.1171C>T	c.(1171-1173)CAT>TAT	p.H391Y	OXSR1_uc010hhb.2_Missense_Mutation_p.H325Y	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	391					intracellular protein kinase cascade|protein phosphorylation|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)					p.H391Y(SKCO1-Tumor)	232				0.206897	25.867109	30.48617	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38287626	38287626	11749	3	C	T	T	T	377	29	OXSR1	2	2
LRRN1	57633	broad.mit.edu	37	3	3887744	3887744	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:3887744A>T	uc003bpt.3	+	c.1419A>T	c.(1417-1419)TCA>TCT	p.S473S	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	473	Ig-like C2-type.|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)										0.283951	66.795274	70.187462	23	58	KEEP	---	---	---	---	capture		Silent	SNP	3887744	3887744	9410	3	A	T	T	T	80	7	LRRN1	3	3
C3orf39	84892	broad.mit.edu	37	3	43121603	43121603	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:43121603C>A	uc003cmq.1	-	c.1321G>T	c.(1321-1323)GAG>TAG	p.E441*	C3orf39_uc003cmr.1_Nonsense_Mutation_p.E441*	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	441						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)										0.25	14.568469	15.702497	5	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43121603	43121603	2322	3	C	A	A	A	403	31	C3orf39	5	1
ITPR1	3708	broad.mit.edu	37	3	4711404	4711404	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4711404G>T	uc003bqa.2	+	c.1953G>T	c.(1951-1953)CTG>CTT	p.L651L	ITPR1_uc010hca.1_Silent_p.L636L|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.L636L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	651	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			ovary(4)|breast(2)|large_intestine(1)|kidney(1)|liver(1)|skin(1)|pancreas(1)	11				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)						2114				0.266667	10.892829	11.630738	4	11	KEEP	---	---	---	---	capture		Silent	SNP	4711404	4711404	8224	3	G	T	T	T	574	45	ITPR1	2	2
ATRIP	84126	broad.mit.edu	37	3	48501642	48501642	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48501642G>A	uc003ctf.1	+	c.1189G>A	c.(1189-1191)GAT>AAT	p.D397N	ATRIP_uc011bbj.1_Missense_Mutation_p.D270N|ATRIP_uc003ctg.1_Missense_Mutation_p.D397N|TREX1_uc010hjy.2_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	397					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.320988	69.820241	72.126653	26	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48501642	48501642	1224	3	G	A	A	A	585	45	ATRIP	2	2
UBA7	7318	broad.mit.edu	37	3	49845456	49845456	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49845456G>A	uc003cxr.2	-	c.2520C>T	c.(2518-2520)GCC>GCT	p.A840A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	840					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)										0.357143	15.171673	15.42309	5	9	KEEP	---	---	---	---	capture		Silent	SNP	49845456	49845456	17390	3	G	A	A	A	548	43	UBA7	2	2
SEMA3B	7869	broad.mit.edu	37	3	50308357	50308357	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50308357T>C	uc003cyu.2	+	c.367T>C	c.(367-369)TAC>CAC	p.Y123H	SEMA3B_uc010hlh.1_Non-coding_Transcript|SEMA3B_uc003cyt.2_Missense_Mutation_p.Y123H|SEMA3B_uc003cyv.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyx.2_Missense_Mutation_p.Y10H|SEMA3B_uc003cyy.2_5'Flank|SEMA3B_uc011bdo.1_5'Flank	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	semaphorin 3B isoform 1 precursor	123	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)						72				0.25	6.446892	6.900809	2	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50308357	50308357	14511	3	T	C	C	C	689	53	SEMA3B	4	4
IFRD2	7866	broad.mit.edu	37	3	50327638	50327638	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50327638G>A	uc003czb.2	-	c.849C>T	c.(847-849)CTC>CTT	p.L283L	IFRD2_uc011bdp.1_Silent_p.L181L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	181							binding			ovary(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)										0.4	18.146902	18.278122	6	9	KEEP	---	---	---	---	capture		Silent	SNP	50327638	50327638	7855	3	G	A	A	A	574	45	IFRD2	2	2
GRM2	2912	broad.mit.edu	37	3	51743227	51743227	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51743227G>A	uc010hlv.2	+	c.228G>A	c.(226-228)CCG>CCA	p.P76P	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	76	Extracellular (Potential).				synaptic transmission	integral to plasma membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)									0.27551	67.614417	72.042881	27	71	KEEP	---	---	---	---	capture		Silent	SNP	51743227	51743227	7076	3	G	A	A	A	483	38	GRM2	1	1
CACNA2D3	55799	broad.mit.edu	37	3	54871258	54871258	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:54871258G>T	uc003dhf.2	+	c.1470_splice	c.e15+1	p.T490_splice	CACNA2D3_uc011beu.1_Splice_Site_SNP|CACNA2D3_uc003dhg.1_Splice_Site_SNP_p.T396_splice|CACNA2D3_uc003dhh.1_Splice_Site_SNP|CACNA2D3_uc010hmv.1_Splice_Site_SNP_p.T224_splice	NM_018398	NP_060868			calcium channel, voltage-dependent, alpha							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.193878	43.185232	51.741996	19	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54871258	54871258	2666	3	G	T	T	T	520	40	CACNA2D3	5	1
DNAH12	201625	broad.mit.edu	37	3	57487119	57487120	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:57487119_57487120GG>AA	uc003dit.2	-	c.1263_1264CC>TT	c.(1261-1266)CTCCTT>CTTTTT	p.L422F	DNAH12_uc003diu.2_Missense_Mutation_p.L422F	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	422	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)	1														0.133333	8.715704	14.593831	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	57487119	57487120	4782	3	GG	AA	AA	AA	455	35	DNAH12	2	2
DNASE1L3	1776	broad.mit.edu	37	3	58178443	58178443	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:58178443T>A	uc003djo.1	-	c.889A>T	c.(889-891)AGG>TGG	p.R297W	DNASE1L3_uc011bfd.1_Missense_Mutation_p.R267W|DNASE1L3_uc003djp.1_Missense_Mutation_p.R297W|DNASE1L3_uc003djq.1_3'UTR	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3 precursor	297	Nuclear localization signal (Potential).				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		Esophageal Squamous(96;1069 1424 4841 43466 52325)								0.222222	41.591312	47.359634	18	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58178443	58178443	4846	3	T	A	A	A	726	56	DNASE1L3	3	3
OXTR	5021	broad.mit.edu	37	3	8809287	8809287	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:8809287C>A	uc003brc.2	-	c.587G>T	c.(586-588)GGA>GTA	p.G196V		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	196	Extracellular (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)									0.184211	9.385783	12.96754	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8809287	8809287	11751	3	C	A	A	A	390	30	OXTR	2	2
EPHA3	2042	broad.mit.edu	37	3	89521734	89521734	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89521734C>G	uc003dqy.2	+	c.2811C>G	c.(2809-2811)TAC>TAG	p.Y937*	EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	937	Cytoplasmic (Potential).|SAM.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.242424	47.17943	51.163254	16	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89521734	89521734	5361	3	C	G	G	G	220	17	EPHA3	5	3
CIDEC	63924	broad.mit.edu	37	3	9911858	9911858	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9911858G>T	uc003btp.2	-	c.386C>A	c.(385-387)CCA>CAA	p.P129Q	CIDEC_uc003bto.2_Intron|CIDEC_uc010hcp.2_Intron|CIDEC_uc003btq.2_Missense_Mutation_p.P119Q|CIDEC_uc003btr.2_Missense_Mutation_p.P45Q|CIDEC_uc003bts.2_Missense_Mutation_p.P45Q	NM_022094	NP_071377	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	119					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				central_nervous_system(1)	1	Medulloblastoma(99;0.227)													0.321429	49.951302	51.526365	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9911858	9911858	3561	3	G	T	T	T	611	47	CIDEC	2	2
NHEDC1	150159	broad.mit.edu	37	4	103822447	103822447	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103822447C>G	uc003hww.2	-	c.1375G>C	c.(1375-1377)GCA>CCA	p.A459P	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.A232P	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	459						integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)										0.115854	24.383972	48.179374	19	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103822447	103822447	10800	4	C	G	G	G	351	27	NHEDC1	3	3
C4orf21	55345	broad.mit.edu	37	4	113539234	113539234	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113539234T>A	uc003iau.2	-	c.1964A>T	c.(1963-1965)TAC>TTC	p.Y655F	C4orf21_uc003iaw.2_Missense_Mutation_p.Y655F	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)										0.216667	29.94281	34.385845	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113539234	113539234	2349	4	T	A	A	A	741	57	C4orf21	3	3
FAT4	79633	broad.mit.edu	37	4	126412051	126412051	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126412051T>A	uc003ifj.3	+	c.14074T>A	c.(14074-14076)TGC>AGC	p.C4692S	FAT4_uc011cgp.1_Missense_Mutation_p.C2933S|FAT4_uc003ifi.1_Missense_Mutation_p.C2169S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4692	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.223881	37.173996	41.890155	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126412051	126412051	5928	4	T	A	A	A	663	51	FAT4	3	3
PCDH10	57575	broad.mit.edu	37	4	134072090	134072090	+	Silent	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134072090A>C	uc003iha.2	+	c.795A>C	c.(793-795)CCA>CCC	p.P265P	PCDH10_uc003igz.2_Silent_p.P265P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	265	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.166667	15.941989	21.631879	9	45	KEEP	---	---	---	---	capture		Silent	SNP	134072090	134072090	11927	4	A	C	C	C	80	7	PCDH10	4	4
BOD1L	259282	broad.mit.edu	37	4	13604728	13604728	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13604728C>A	uc003gmz.1	-	c.3796G>T	c.(3796-3798)GCT>TCT	p.A1266S	BOD1L_uc010idr.1_Missense_Mutation_p.A603S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1266							DNA binding			ovary(5)|breast(1)	6														0.230769	20.50331	23.061547	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13604728	13604728	1508	4	C	A	A	A	325	25	BOD1L	2	2
SMAD1	4086	broad.mit.edu	37	4	146463845	146463845	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146463845G>A	uc003ikc.2	+	c.770G>A	c.(769-771)AGA>AAA	p.R257K	SMAD1_uc003ikd.2_Missense_Mutation_p.R257K|SMAD1_uc010iov.2_Missense_Mutation_p.R257K|SMAD1_uc011cic.1_Intron	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	257					BMP signaling pathway|embryonic pattern specification|primary microRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					Pancreas(182;1287 2092 10326 35158 50562)								0.133333	7.179283	11.093253	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146463845	146463845	15255	4	G	A	A	A	429	33	SMAD1	2	2
TTC29	83894	broad.mit.edu	37	4	147824814	147824814	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147824814C>A	uc003ikx.3	-	c.546G>T	c.(544-546)AAG>AAT	p.K182N	TTC29_uc003ikw.3_Missense_Mutation_p.K156N|TTC29_uc010ipc.2_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.K156N	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	156							binding				0	all_hematologic(180;0.151)													0.176471	6.61414	8.291539	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147824814	147824814	17251	4	C	A	A	A	259	20	TTC29	2	2
ARHGAP10	79658	broad.mit.edu	37	4	148796291	148796291	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:148796291C>T	uc003ilf.2	+	c.822C>T	c.(820-822)GTC>GTT	p.V274V		NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	274	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)										0.32	22.792442	23.511437	8	17	KEEP	---	---	---	---	capture		Silent	SNP	148796291	148796291	873	4	C	T	T	T	379	30	ARHGAP10	2	2
DCLK2	166614	broad.mit.edu	37	4	151023641	151023641	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151023641G>T	uc003ilo.3	+	c.433G>T	c.(433-435)GTG>TTG	p.V145L	DCLK2_uc003ilm.3_Missense_Mutation_p.V145L|DCLK2_uc003iln.3_Missense_Mutation_p.V145L|DCLK2_uc003ilp.3_Non-coding_Transcript	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	145	Doublecortin 1.				intracellular signal transduction|protein phosphorylation	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					GBM(195;186 2215 13375 16801 37459)				411				0.195652	21.966895	25.924563	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151023641	151023641	4463	4	G	T	T	T	520	40	DCLK2	1	1
MAB21L2	10586	broad.mit.edu	37	4	151504190	151504190	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151504190C>A	uc003ilw.2	+	c.9C>A	c.(7-9)GCC>GCA	p.A3A	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	3					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)										0.333333	19.774126	20.373757	8	16	KEEP	---	---	---	---	capture		Silent	SNP	151504190	151504190	9519	4	C	A	A	A	288	23	MAB21L2	1	1
LRBA	987	broad.mit.edu	37	4	151849739	151849739	+	Missense_Mutation	SNP	C	G	G	rs61746090		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151849739C>G	uc010ipj.2	-	c.478G>C	c.(478-480)GCT>CCT	p.A160P	LRBA_uc003ilu.3_Missense_Mutation_p.A160P|LRBA_uc010ipk.1_Missense_Mutation_p.A79P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	160						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.172414	11.519569	14.410051	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151849739	151849739	9304	4	C	G	G	G	338	26	LRBA	3	3
DCHS2	54798	broad.mit.edu	37	4	155156835	155156835	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155156835A>C	uc003inw.2	-	c.7604T>G	c.(7603-7605)TTC>TGC	p.F2535C		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2535					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.209302	20.007474	23.43311	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155156835	155156835	4459	4	A	C	C	C	117	9	DCHS2	4	4
DCHS2	54798	broad.mit.edu	37	4	155219229	155219229	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155219229C>A	uc003inw.2	-	c.4872G>T	c.(4870-4872)GAG>GAT	p.E1624D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1624	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.204082	20.88836	24.822685	10	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155219229	155219229	4459	4	C	A	A	A	415	32	DCHS2	2	2
DCHS2	54798	broad.mit.edu	37	4	155256183	155256183	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155256183G>T	uc003inw.2	-	c.1053C>A	c.(1051-1053)GAC>GAA	p.D351E	DCHS2_uc003inx.2_Missense_Mutation_p.D850E	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	351	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.145833	11.348709	17.094694	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155256183	155256183	4459	4	G	T	T	T	516	40	DCHS2	1	1
NPY2R	4887	broad.mit.edu	37	4	156136234	156136234	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156136234C>A	uc003ioq.2	+	c.1143C>A	c.(1141-1143)GTC>GTA	p.V381V	NPY2R_uc003ior.2_Silent_p.V381V	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	381	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.135135	7.149699	11.924167	5	32	KEEP	---	---	---	---	capture		Silent	SNP	156136234	156136234	11014	4	C	A	A	A	405	32	NPY2R	2	2
ETFDH	2110	broad.mit.edu	37	4	159601639	159601639	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159601639T>C	uc003iqb.2	+	c.55T>C	c.(55-57)TTA>CTA	p.L19L	ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_5'Flank|ETFDH_uc010iqs.2_5'Flank	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	19					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)										0.192982	23.82693	28.940766	11	46	KEEP	---	---	---	---	capture		Silent	SNP	159601639	159601639	5464	4	T	C	C	C	725	56	ETFDH	4	4
FNIP2	57600	broad.mit.edu	37	4	159780333	159780333	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159780333A>T	uc003iqe.3	+	c.982A>T	c.(982-984)AAT>TAT	p.N328Y		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	328					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)										0.129032	3.684332	7.845413	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159780333	159780333	6218	4	A	T	T	T	117	9	FNIP2	3	3
RAPGEF2	9693	broad.mit.edu	37	4	160264503	160264503	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:160264503C>T	uc003iqg.3	+	c.2718C>T	c.(2716-2718)CAC>CAT	p.H906H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	906	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)						322				0.2	29.742411	35.179775	13	52	KEEP	---	---	---	---	capture		Silent	SNP	160264503	160264503	13504	4	C	T	T	T	246	19	RAPGEF2	1	1
NPY1R	4886	broad.mit.edu	37	4	164246890	164246890	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164246890C>A	uc003iqm.1	-	c.720G>T	c.(718-720)AGG>AGT	p.R240S	NPY1R_uc011cjj.1_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	240	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			pancreas(1)	1	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.222222	11.911932	13.857798	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164246890	164246890	11013	4	C	A	A	A	389	30	NPY1R	2	2
NPY5R	4889	broad.mit.edu	37	4	164272461	164272461	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164272461G>A	uc003iqn.2	+	c.1036G>A	c.(1036-1038)GAT>AAT	p.D346N		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	346	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.211538	27.296581	31.296915	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164272461	164272461	11015	4	G	A	A	A	429	33	NPY5R	2	2
HPGD	3248	broad.mit.edu	37	4	175416704	175416704	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175416704C>A	uc003itu.2	-	c.493G>T	c.(493-495)GCA>TCA	p.A165S	HPGD_uc003itt.2_Missense_Mutation_p.A32S|HPGD_uc003itv.2_Missense_Mutation_p.A165S|HPGD_uc011ckf.1_Missense_Mutation_p.A44S|HPGD_uc010irp.2_Missense_Mutation_p.A44S|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Missense_Mutation_p.A97S|HPGD_uc011ckh.1_Missense_Mutation_p.A44S|HPGD_uc003itw.2_Missense_Mutation_p.A165S	NM_000860	NP_000851	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	165					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|oxidation-reduction process|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity				0		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)									0.1875	16.95117	21.341375	9	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175416704	175416704	7626	4	C	A	A	A	364	28	HPGD	2	2
VEGFC	7424	broad.mit.edu	37	4	177648957	177648957	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177648957G>T	uc003ius.1	-	c.527C>A	c.(526-528)ACC>AAC	p.T176N		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	176					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)						148				0.285714	20.492111	21.643839	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177648957	177648957	17719	4	G	T	T	T	572	44	VEGFC	2	2
F11	2160	broad.mit.edu	37	4	187192858	187192858	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187192858A>C	uc003iza.1	+	c.151A>C	c.(151-153)ACT>CCT	p.T51P	F11_uc003iyz.2_Missense_Mutation_p.T51P	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	51	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)									0.157143	20.904131	28.735131	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187192858	187192858	5531	4	A	C	C	C	78	6	F11	4	4
MTNR1A	4543	broad.mit.edu	37	4	187455454	187455454	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187455454C>T	uc003izd.1	-	c.442G>A	c.(442-444)GTG>ATG	p.V148M		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	148	Helical; Name=4; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)	1		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)									0.195652	19.86724	23.825218	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187455454	187455454	10344	4	C	T	T	T	247	19	MTNR1A	1	1
FAT1	2195	broad.mit.edu	37	4	187542468	187542468	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187542468C>G	uc003izf.2	-	c.5272G>C	c.(5272-5274)GAG>CAG	p.E1758Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1758	Extracellular (Potential).|Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.133333	9.24486	17.115512	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187542468	187542468	5925	4	C	G	G	G	377	29	FAT1	3	3
SLIT2	9353	broad.mit.edu	37	4	20543244	20543244	+	Splice_Site_SNP	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20543244T>C	uc003gpr.1	+	c.2143_splice	c.e20+2	p.G715_splice	SLIT2_uc003gps.1_Splice_Site_SNP_p.G707_splice	NM_004787	NP_004778			slit homolog 2 precursor						apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.169492	24.722437	30.814105	10	49	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	20543244	20543244	15238	4	T	C	C	C	741	57	SLIT2	5	4
PPARGC1A	10891	broad.mit.edu	37	4	23816059	23816059	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23816059C>A	uc003gqs.2	-	c.1047G>T	c.(1045-1047)CCG>CCT	p.P349P	PPARGC1A_uc003gqt.2_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	349					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.201923	47.201868	55.815923	21	83	KEEP	---	---	---	---	capture		Silent	SNP	23816059	23816059	12730	4	C	A	A	A	288	23	PPARGC1A	1	1
PPARGC1A	10891	broad.mit.edu	37	4	23833288	23833288	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23833288G>A	uc003gqs.2	-	c.321C>T	c.(319-321)CCC>CCT	p.P107P	PPARGC1A_uc003gqt.2_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	107					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.150685	60.781786	86.494683	33	186	KEEP	---	---	---	---	capture		Silent	SNP	23833288	23833288	12730	4	G	A	A	A	444	35	PPARGC1A	2	2
NOP14	8602	broad.mit.edu	37	4	2951843	2951843	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2951843C>A	uc003ggj.1	-	c.1100G>T	c.(1099-1101)GGG>GTG	p.G367V	C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.G113V|NOP14_uc003ggk.3_Missense_Mutation_p.G367V|NOP14_uc003ggl.2_Missense_Mutation_p.G367V	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	367					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1														0.177914	52.3992	68.31484	29	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2951843	2951843	10939	4	C	A	A	A	286	22	NOP14	2	2
OTOP1	133060	broad.mit.edu	37	4	4199402	4199402	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4199402G>T	uc003ghp.1	-	c.1159C>A	c.(1159-1161)CGC>AGC	p.R387S		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	387					biomineral tissue development	extracellular space|integral to membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.225806	36.226669	40.500746	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4199402	4199402	11717	4	G	T	T	T	507	39	OTOP1	1	1
GABRA2	2555	broad.mit.edu	37	4	46305517	46305517	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46305517G>T	uc003gxc.3	-	c.816C>A	c.(814-816)TTC>TTA	p.F272L	GABRA2_uc010igc.2_Missense_Mutation_p.F272L|GABRA2_uc011bzc.1_Missense_Mutation_p.F217L|GABRA2_uc003gxe.2_Missense_Mutation_p.F272L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	272	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.153846	19.893315	28.796998	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46305517	46305517	6412	4	G	T	T	T	425	33	GABRA2	2	2
GABRA4	2557	broad.mit.edu	37	4	46930427	46930427	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46930427C>A	uc003gxg.2	-	c.1480G>T	c.(1480-1482)GGG>TGG	p.G494W		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	494	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|breast(1)	3					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	Ovarian(6;283 369 8234 12290 33402)								0.203125	27.040224	32.278332	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46930427	46930427	6414	4	C	A	A	A	312	24	GABRA4	2	2
PIGG	54872	broad.mit.edu	37	4	533009	533009	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:533009A>G	uc003gak.3	+	c.2803A>G	c.(2803-2805)ATC>GTC	p.I935V	PIGG_uc003gaj.3_Missense_Mutation_p.I927V|PIGG_uc011bux.1_Non-coding_Transcript|PIGG_uc010ibf.2_Missense_Mutation_p.I802V|PIGG_uc003gal.3_Missense_Mutation_p.I846V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	935	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			ovary(1)|central_nervous_system(1)	2														0.151899	20.945599	30.119027	12	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	533009	533009	12312	4	A	G	G	G	104	8	PIGG	4	4
KDR	3791	broad.mit.edu	37	4	55971037	55971037	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55971037C>A	uc003has.2	-	c.1760G>T	c.(1759-1761)GGC>GTC	p.G587V	KDR_uc003hat.1_Missense_Mutation_p.G587V|KDR_uc011bzx.1_Missense_Mutation_p.G587V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	587	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.145833	9.964082	15.697302	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55971037	55971037	8445	4	C	A	A	A	338	26	KDR	2	2
KIAA1211	57482	broad.mit.edu	37	4	57182846	57182846	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57182846G>T	uc003hbk.2	+	c.3178G>T	c.(3178-3180)GGG>TGG	p.G1060W	KIAA1211_uc010iha.2_Missense_Mutation_p.G1053W|KIAA1211_uc011bzz.1_Missense_Mutation_p.G970W|KIAA1211_uc003hbm.1_Missense_Mutation_p.G946W	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1060										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.166667	5.21286	7.110609	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57182846	57182846	8523	4	G	T	T	T	507	39	KIAA1211	1	1
C4orf50	389197	broad.mit.edu	37	4	5975560	5975560	+	Silent	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5975560T>A	uc003git.1	-	c.234A>T	c.(232-234)ATA>ATT	p.I78I		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	78										pancreas(2)|breast(1)	3														0.16	7.78563	10.536222	4	21	KEEP	---	---	---	---	capture		Silent	SNP	5975560	5975560	2373	4	T	A	A	A	680	53	C4orf50	3	3
LPHN3	23284	broad.mit.edu	37	4	62845314	62845314	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62845314G>T	uc010ihh.2	+	c.2635G>T	c.(2635-2637)GTG>TTG	p.V879L	LPHN3_uc003hcq.3_Missense_Mutation_p.V879L|LPHN3_uc003hct.2_Missense_Mutation_p.V272L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	866	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.208791	95.665547	109.942139	38	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62845314	62845314	9290	4	G	T	T	T	624	48	LPHN3	2	2
LPHN3	23284	broad.mit.edu	37	4	62849169	62849169	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62849169G>T	uc010ihh.2	+	c.2880G>T	c.(2878-2880)CTG>CTT	p.L960L	LPHN3_uc003hcq.3_Silent_p.L960L|LPHN3_uc003hct.2_Silent_p.L353L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	947	Helical; Name=3; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.183673	19.645452	24.246938	9	40	KEEP	---	---	---	---	capture		Silent	SNP	62849169	62849169	9290	4	G	T	T	T	600	47	LPHN3	2	2
TECRL	253017	broad.mit.edu	37	4	65155456	65155456	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:65155456A>T	uc003hcv.2	-	c.804T>A	c.(802-804)AAT>AAA	p.N268K		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	268					lipid metabolic process|oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0														0.181818	9.786774	11.878821	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65155456	65155456	16273	4	A	T	T	T	102	8	TECRL	3	3
EPHA5	2044	broad.mit.edu	37	4	66270133	66270133	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66270133G>T	uc011cah.1	-	c.1752C>A	c.(1750-1752)GTC>GTA	p.V584V	EPHA5_uc003hcx.2_Silent_p.V515V|EPHA5_uc003hcy.2_Silent_p.V583V|EPHA5_uc003hcz.2_Silent_p.V583V|EPHA5_uc011cai.1_Silent_p.V584V|EPHA5_uc003hda.2_Silent_p.V584V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	583	Helical; (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)			0.181818	19.848339	25.055762	10	45	KEEP	---	---	---	---	capture		Silent	SNP	66270133	66270133	5363	4	G	T	T	T	574	45	EPHA5	2	2
KIAA0232	9778	broad.mit.edu	37	4	6863811	6863811	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6863811A>G	uc003gjr.3	+	c.1702A>G	c.(1702-1704)ACA>GCA	p.T568A	KIAA0232_uc003gjq.3_Missense_Mutation_p.T568A	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	568							ATP binding			ovary(2)	2														0.181818	45.421636	55.947417	20	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6863811	6863811	8470	4	A	G	G	G	130	10	KIAA0232	4	4
TMPRSS11F	389208	broad.mit.edu	37	4	68934442	68934442	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68934442C>G	uc003hdt.1	-	c.649G>C	c.(649-651)GAA>CAA	p.E217Q	LOC550112_uc003hdl.3_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	217	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.220779	44.734692	50.262396	17	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68934442	68934442	16784	4	C	G	G	G	390	30	TMPRSS11F	3	3
UGT2B11	10720	broad.mit.edu	37	4	70071210	70071210	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70071210T>G	uc003heh.2	-	c.1078A>C	c.(1078-1080)AAT>CAT	p.N360H		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	360					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.092105	6.671997	19.396867	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70071210	70071210	17515	4	T	G	G	G	806	62	UGT2B11	4	4
UGT2B11	10720	broad.mit.edu	37	4	70071213	70071213	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70071213G>T	uc003heh.2	-	c.1075C>A	c.(1075-1077)CAG>AAG	p.Q359K		NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	359					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)	1														0.103896	1.056614	13.398443	8	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70071213	70071213	17515	4	G	T	T	T	611	47	UGT2B11	2	2
CSN2	1447	broad.mit.edu	37	4	70823494	70823494	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70823494G>A	uc003hes.3	-	c.173C>T	c.(172-174)TCT>TTT	p.S58F	CSN2_uc003het.3_Missense_Mutation_p.S57F	NM_001891	NP_001882	P05814	CASB_HUMAN	casein beta precursor	58					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity				0														0.218182	29.669883	33.696094	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70823494	70823494	4089	4	G	A	A	A	429	33	CSN2	2	2
MUC7	4589	broad.mit.edu	37	4	71346651	71346651	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71346651A>G	uc011cat.1	+	c.190A>G	c.(190-192)AAA>GAA	p.K64E	MUC7_uc011cau.1_Missense_Mutation_p.K64E|MUC7_uc003hfj.2_Missense_Mutation_p.K64E	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	64						extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.161905	38.113887	49.523048	17	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71346651	71346651	10375	4	A	G	G	G	169	13	MUC7	4	4
MUC7	4589	broad.mit.edu	37	4	71346954	71346954	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71346954A>G	uc011cat.1	+	c.493A>G	c.(493-495)ACC>GCC	p.T165A	MUC7_uc011cau.1_Missense_Mutation_p.T165A|MUC7_uc003hfj.2_Missense_Mutation_p.T165A	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	165	1.|Thr-rich.					extracellular region	protein binding			ovary(2)|central_nervous_system(1)	3			Lung(101;0.211)											0.2375	42.50355	47.545139	19	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71346954	71346954	10375	4	A	G	G	G	78	6	MUC7	4	4
ANKRD56	345079	broad.mit.edu	37	4	77817745	77817745	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77817745C>T	uc003hki.2	-	c.1258G>A	c.(1258-1260)GAA>AAA	p.E420K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	420											0														0.147727	20.523483	31.008675	13	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77817745	77817745	690	4	C	T	T	T	377	29	ANKRD56	2	2
FRAS1	80144	broad.mit.edu	37	4	79371325	79371325	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79371325G>T	uc003hlb.2	+	c.6295G>T	c.(6295-6297)GAA>TAA	p.E2099*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2098	CSPG 9.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.136364	8.318578	13.954408	6	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79371325	79371325	6288	4	G	T	T	T	429	33	FRAS1	5	2
PAQR3	152559	broad.mit.edu	37	4	79847698	79847698	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79847698C>G	uc003hlp.1	-	c.679G>C	c.(679-681)GGA>CGA	p.G227R	PAQR3_uc003hlm.2_Non-coding_Transcript|PAQR3_uc003hln.2_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.G109R	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	227	Lumenal (Potential).					Golgi membrane|integral to membrane	receptor activity				0										9				0.15625	15.118434	22.357438	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79847698	79847698	11853	4	C	G	G	G	312	24	PAQR3	3	3
GK2	2712	broad.mit.edu	37	4	80327728	80327728	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:80327728G>T	uc003hlu.2	-	c.1627C>A	c.(1627-1629)CTA>ATA	p.L543I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	543					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)	2														0.122449	7.048907	13.859364	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80327728	80327728	6689	4	G	T	T	T	438	34	GK2	2	2
RASGEF1B	153020	broad.mit.edu	37	4	82366732	82366732	+	Silent	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:82366732T>A	uc003hmi.1	-	c.876A>T	c.(874-876)GTA>GTT	p.V292V	RASGEF1B_uc003hmj.1_Silent_p.V291V|RASGEF1B_uc010ijq.1_Silent_p.V250V	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	292	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0														0.228261	50.850434	57.067157	21	71	KEEP	---	---	---	---	capture		Silent	SNP	82366732	82366732	13531	4	T	A	A	A	678	53	RASGEF1B	3	3
GAK	2580	broad.mit.edu	37	4	844769	844769	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:844769C>A	uc003gbm.3	-	c.3612G>T	c.(3610-3612)ATG>ATT	p.M1204I	GAK_uc003gbn.3_Missense_Mutation_p.M1125I|GAK_uc003gbk.3_Missense_Mutation_p.M1I|GAK_uc010ibi.2_Missense_Mutation_p.M429I|GAK_uc010ibj.2_Non-coding_Transcript|GAK_uc003gbl.3_Missense_Mutation_p.M1057I	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	1204					cell cycle|protein phosphorylation	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)	3				Colorectal(103;0.219)						679				0.247423	55.791763	61.485508	24	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	844769	844769	6459	4	C	A	A	A	377	29	GAK	2	2
PTPN13	5783	broad.mit.edu	37	4	87693953	87693953	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87693953G>T	uc003hpy.2	+	c.5206G>T	c.(5206-5208)GAT>TAT	p.D1736Y	PTPN13_uc003hpz.2_Missense_Mutation_p.D1731Y|PTPN13_uc003hqa.2_Missense_Mutation_p.D1712Y|PTPN13_uc003hqb.2_Missense_Mutation_p.D1540Y|PTPN13_uc003hqc.1_Missense_Mutation_p.D97Y	NM_080685	NP_542416	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1731						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)										0.210526	35.053496	40.949285	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87693953	87693953	13237	4	G	T	T	T	533	41	PTPN13	2	2
SLC10A6	345274	broad.mit.edu	37	4	87770178	87770178	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:87770178C>A	uc003hqd.2	-	c.91G>T	c.(91-93)GAG>TAG	p.E31*		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	31	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)										0.191489	14.82729	19.072195	9	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87770178	87770178	14873	4	C	A	A	A	390	30	SLC10A6	5	2
DMP1	1758	broad.mit.edu	37	4	88583789	88583789	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88583789A>T	uc003hqv.2	+	c.859A>T	c.(859-861)ACA>TCA	p.T287S	DMP1_uc003hqw.2_Missense_Mutation_p.T271S	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	287					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)										0.136364	5.114401	7.927342	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88583789	88583789	4763	4	A	T	T	T	78	6	DMP1	3	3
ABCG2	9429	broad.mit.edu	37	4	89052318	89052318	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89052318G>A	uc003hrg.2	-	c.426C>T	c.(424-426)TTC>TTT	p.F142F	ABCG2_uc003hrh.2_Silent_p.F142F|ABCG2_uc003hrf.2_Silent_p.F12F	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	142	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)									0.258929	75.861216	81.81521	29	83	KEEP	---	---	---	---	capture		Silent	SNP	89052318	89052318	70	4	G	A	A	A	425	33	ABCG2	2	2
SLC2A9	56606	broad.mit.edu	37	4	9836505	9836505	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:9836505C>A	uc003gmc.2	-	c.1419G>T	c.(1417-1419)CAG>CAT	p.Q473H	SLC2A9_uc003gmd.2_Missense_Mutation_p.Q444H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	473	Extracellular (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3														0.15	5.612429	7.960575	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9836505	9836505	15049	4	C	A	A	A	311	24	SLC2A9	2	2
MAN2A1	4124	broad.mit.edu	37	5	109178149	109178149	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:109178149T>G	uc003kou.1	+	c.2687T>G	c.(2686-2688)CTA>CGA	p.L896R		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	896	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)										0.265306	34.753442	37.192248	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109178149	109178149	9597	5	T	G	G	G	689	53	MAN2A1	4	4
CTNND2	1501	broad.mit.edu	37	5	11098738	11098738	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11098738C>A	uc003jfa.1	-	c.2586G>T	c.(2584-2586)ACG>ACT	p.T862T	CTNND2_uc010itt.2_Silent_p.T771T|CTNND2_uc011cmy.1_Silent_p.T525T|CTNND2_uc011cmz.1_Silent_p.T429T|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.T429T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	862	ARM 7.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.207547	27.918607	32.100806	11	42	KEEP	---	---	---	---	capture		Silent	SNP	11098738	11098738	4179	5	C	A	A	A	340	27	CTNND2	1	1
SRFBP1	153443	broad.mit.edu	37	5	121356095	121356095	+	Missense_Mutation	SNP	C	T	T	rs78373051	by1000genomes	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:121356095C>T	uc003kst.1	+	c.665C>T	c.(664-666)CCT>CTT	p.P222L		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)										0.25	36.810525	40.004953	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121356095	121356095	15658	5	C	T	T	T	312	24	SRFBP1	2	2
SNX24	28966	broad.mit.edu	37	5	122337653	122337653	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:122337653T>C	uc011cwo.1	+	c.396T>C	c.(394-396)CCT>CCC	p.P132P	SNX24_uc003ktf.2_Silent_p.P132P|SNX24_uc010jcy.2_Silent_p.P132P	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	SBBI31 protein	132					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)										0.303371	76.187957	79.261002	27	62	KEEP	---	---	---	---	capture		Silent	SNP	122337653	122337653	15395	5	T	C	C	C	704	55	SNX24	4	4
FBN2	2201	broad.mit.edu	37	5	127673811	127673811	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127673811A>T	uc003kuu.2	-	c.3476T>A	c.(3475-3477)ATT>AAT	p.I1159N	FBN2_uc003kuv.2_Missense_Mutation_p.I1126N	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1159	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.35	22.819626	23.216385	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127673811	127673811	5939	5	A	T	T	T	52	4	FBN2	3	3
DNAH5	1767	broad.mit.edu	37	5	13776646	13776646	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13776646C>G	uc003jfd.2	-	c.9275G>C	c.(9274-9276)GGG>GCG	p.G3092A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3092	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.284091	58.542871	62.299711	25	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13776646	13776646	4787	5	C	G	G	G	286	22	DNAH5	3	3
PCDHA3	56145	broad.mit.edu	37	5	140181091	140181091	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140181091C>A	uc003lhf.2	+	c.309C>A	c.(307-309)AGC>AGA	p.S103R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S103R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.313559	101.677018	105.303565	37	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140181091	140181091	11945	5	C	A	A	A	324	25	PCDHA3	2	2
PCDHA10	56139	broad.mit.edu	37	5	140237058	140237058	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140237058G>T	uc003lhx.2	+	c.1425G>T	c.(1423-1425)ACG>ACT	p.T475T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.T475T|PCDHA10_uc011dad.1_Silent_p.T475T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	475	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|breast(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.30303	83.017194	86.443264	30	69	KEEP	---	---	---	---	capture		Silent	SNP	140237058	140237058	11940	5	G	T	T	T	496	39	PCDHA10	1	1
PCDHA12	56137	broad.mit.edu	37	5	140256592	140256592	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140256592C>T	uc003lic.2	+	c.1535C>T	c.(1534-1536)GCG>GTG	p.A512V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A512V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.372881	61.847197	62.679529	22	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140256592	140256592	11942	5	C	T	T	T	351	27	PCDHA12	1	1
PCDHA13	56136	broad.mit.edu	37	5	140262359	140262359	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140262359C>A	uc003lif.2	+	c.506C>A	c.(505-507)ACC>AAC	p.T169N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.T169N|PCDHA13_uc003lid.2_Missense_Mutation_p.T169N	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	169	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.276596	35.654181	37.766132	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140262359	140262359	11943	5	C	A	A	A	234	18	PCDHA13	2	2
PCDHAC1	56135	broad.mit.edu	37	5	140308490	140308490	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140308490G>C	uc003lih.2	+	c.2013G>C	c.(2011-2013)TGG>TGC	p.W671C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.W671C	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	671	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.09434	8.064796	34.305797	15	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140308490	140308490	11952	5	G	C	C	C	559	43	PCDHAC1	3	3
PCDHB2	56133	broad.mit.edu	37	5	140476327	140476327	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140476327G>T	uc003lil.2	+	c.1953G>T	c.(1951-1953)GAG>GAT	p.E651D	PCDHB2_uc003lim.1_Missense_Mutation_p.E312D	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	651	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.368421	59.407988	60.255622	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140476327	140476327	11962	5	G	T	T	T	438	34	PCDHB2	2	2
PCDHB4	56131	broad.mit.edu	37	5	140502416	140502416	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140502416G>T	uc003lip.1	+	c.836G>T	c.(835-837)GGC>GTC	p.G279V		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	279	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.366337	105.957782	107.540399	37	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140502416	140502416	11964	5	G	T	T	T	546	42	PCDHB4	2	2
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553578G>T	uc003lit.2	+	c.1162G>T	c.(1162-1164)GAT>TAT	p.D388Y		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	388	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.181818	12.132763	15.269792	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140553578	140553578	11967	5	G	T	T	T	481	37	PCDHB7	1	1
PCDHB8	56128	broad.mit.edu	37	5	140558593	140558593	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140558593A>T	uc011dai.1	+	c.978A>T	c.(976-978)GGA>GGT	p.G326G	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	326	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.054245	-46.14385	42.522482	23	401	KEEP	---	---	---	---	capture		Silent	SNP	140558593	140558593	11968	5	A	T	T	T	132	11	PCDHB8	3	3
PCDHB8	56128	broad.mit.edu	37	5	140559020	140559020	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559020C>G	uc011dai.1	+	c.1405C>G	c.(1405-1407)CTG>GTG	p.L469V	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	469	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.182456	95.809306	122.83345	52	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559020	140559020	11968	5	C	G	G	G	311	24	PCDHB8	3	3
PCDHB8	56128	broad.mit.edu	37	5	140559032	140559032	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559032A>C	uc011dai.1	+	c.1417A>C	c.(1417-1419)AGC>CGC	p.S473R	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	473	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.103203	20.001728	64.047023	29	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140559032	140559032	11968	5	A	C	C	C	91	7	PCDHB8	4	4
TAF7	6879	broad.mit.edu	37	5	140698604	140698604	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140698604G>A	uc003ljg.2	-	c.1008C>T	c.(1006-1008)CTC>CTT	p.L336L		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	336	Potential.				negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of protein kinase activity|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	general RNA polymerase II transcription factor activity|histone acetyltransferase binding|promoter binding|specific transcriptional repressor activity|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.310345	23.262108	24.192657	9	20	KEEP	---	---	---	---	capture		Silent	SNP	140698604	140698604	16053	5	G	A	A	A	574	45	TAF7	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140725056	140725056	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140725056C>G	uc003ljm.1	+	c.1456C>G	c.(1456-1458)CGC>GGC	p.R486G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.R246G|PCDHGA3_uc011dap.1_Missense_Mutation_p.R486G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	486	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.338235	64.607331	66.179237	23	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140725056	140725056	11975	5	C	G	G	G	299	23	PCDHGA3	3	3
PCDHGB4	8641	broad.mit.edu	37	5	140769611	140769611	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140769611C>T	uc003lkc.1	+	c.2160C>T	c.(2158-2160)GCC>GCT	p.A720A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.A720A	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	720	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.33557	145.747594	149.29075	50	99	KEEP	---	---	---	---	capture		Silent	SNP	140769611	140769611	11985	5	C	T	T	T	301	24	PCDHGB4	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140772969	140772969	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140772969G>A	uc003lkd.1	+	c.589G>A	c.(589-591)GAG>AAG	p.E197K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.E197K	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	197	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.37037	29.943982	30.342274	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140772969	140772969	11980	5	G	A	A	A	533	41	PCDHGA8	2	2
PCDHGB5	56101	broad.mit.edu	37	5	140780026	140780026	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140780026G>T	uc003lkf.1	+	c.2332G>T	c.(2332-2334)GGT>TGT	p.G778C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G778C|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	778	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.285714	105.743651	111.514558	40	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140780026	140780026	11986	5	G	T	T	T	611	47	PCDHGB5	2	2
PCDH1	5097	broad.mit.edu	37	5	141244261	141244261	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141244261C>A	uc003llp.2	-	c.1635G>T	c.(1633-1635)CTG>CTT	p.L545L	PCDH1_uc011dbf.1_Silent_p.L523L|PCDH1_uc003llq.2_Silent_p.L545L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 2 precursor	545	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		Ovarian(132;1609 1739 4190 14731 45037)								0.368421	40.041708	40.619256	14	24	KEEP	---	---	---	---	capture		Silent	SNP	141244261	141244261	11926	5	C	A	A	A	262	21	PCDH1	2	2
STK32A	202374	broad.mit.edu	37	5	146658824	146658824	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146658824G>A	uc011dbw.1	+	c.123G>A	c.(121-123)CAG>CAA	p.Q41Q	STK32A_uc003lol.3_Silent_p.Q41Q|STK32A_uc003lom.2_Silent_p.Q41Q|STK32A_uc010jgn.1_Silent_p.Q41Q	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	41	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)							651				0.392857	33.522825	33.802656	11	17	KEEP	---	---	---	---	capture		Silent	SNP	146658824	146658824	15817	5	G	A	A	A	425	33	STK32A	2	2
ABLIM3	22885	broad.mit.edu	37	5	148586668	148586668	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148586668C>A	uc003lpy.2	+	c.546C>A	c.(544-546)AGC>AGA	p.S182R	ABLIM3_uc003lpz.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqa.1_Missense_Mutation_p.S190R|ABLIM3_uc003lqb.2_Missense_Mutation_p.S182R|ABLIM3_uc003lqc.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqd.1_Missense_Mutation_p.S182R|ABLIM3_uc003lqf.2_Missense_Mutation_p.S182R|ABLIM3_uc003lqe.1_Missense_Mutation_p.S182R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	182	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.171429	12.840582	16.402545	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148586668	148586668	97	5	C	A	A	A	350	27	ABLIM3	1	1
TCOF1	6949	broad.mit.edu	37	5	149751720	149751720	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149751720A>G	uc003lry.2	+	c.791A>G	c.(790-792)AAG>AGG	p.K264R	TCOF1_uc003lrw.2_Missense_Mutation_p.K264R|TCOF1_uc011dch.1_Missense_Mutation_p.K264R|TCOF1_uc003lrz.2_Missense_Mutation_p.K264R|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	264					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.307692	25.192627	26.048416	8	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149751720	149751720	16234	5	A	G	G	G	39	3	TCOF1	4	4
FAT2	2196	broad.mit.edu	37	5	150922455	150922455	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150922455C>A	uc003lue.3	-	c.8233G>T	c.(8233-8235)GAC>TAC	p.D2745Y	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2745	Cadherin 24.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.376812	73.531248	74.450905	26	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150922455	150922455	5926	5	C	A	A	A	416	32	FAT2	2	2
FAT2	2196	broad.mit.edu	37	5	150932774	150932774	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150932774C>A	uc003lue.3	-	c.4120G>T	c.(4120-4122)GAG>TAG	p.E1374*	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1374	Extracellular (Potential).|Cadherin 12.				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)											0.211538	21.437054	25.413983	11	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150932774	150932774	5926	5	C	A	A	A	416	32	FAT2	5	2
GRIA1	2890	broad.mit.edu	37	5	153078460	153078460	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153078460A>C	uc011dcy.1	+	c.1309A>C	c.(1309-1311)AAT>CAT	p.N437H	GRIA1_uc003lva.3_Missense_Mutation_p.N427H|GRIA1_uc003luy.3_Missense_Mutation_p.N427H|GRIA1_uc003luz.3_Missense_Mutation_p.N332H|GRIA1_uc011dcv.1_Non-coding_Transcript|GRIA1_uc011dcw.1_Missense_Mutation_p.N347H|GRIA1_uc011dcx.1_Missense_Mutation_p.N358H|GRIA1_uc011dcz.1_Missense_Mutation_p.N437H|GRIA1_uc010jia.1_Missense_Mutation_p.N407H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	427	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.255319	36.281752	38.831259	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153078460	153078460	7045	5	A	C	C	C	65	5	GRIA1	4	4
PLEKHG4B	153478	broad.mit.edu	37	5	155007	155007	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:155007C>G	uc003jak.2	+	c.942C>G	c.(940-942)TCC>TCG	p.S314S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	314					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)										0.272727	22.057909	23.596296	9	24	KEEP	---	---	---	---	capture		Silent	SNP	155007	155007	12498	5	C	G	G	G	275	22	PLEKHG4B	3	3
MARCH11	441061	broad.mit.edu	37	5	16091001	16091001	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16091001T>G	uc003jfo.2	-	c.883A>C	c.(883-885)ATA>CTA	p.I295L	MARCH11_uc010itw.1_Missense_Mutation_p.I51L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295	Helical; (Potential).					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0														0.310345	29.266128	30.194225	9	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16091001	16091001	9683	5	T	G	G	G	663	51	MARCH11	4	4
MAT2B	27430	broad.mit.edu	37	5	162939126	162939126	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:162939126G>T	uc003lzk.2	+	c.182G>T	c.(181-183)AGA>ATA	p.R61I	MAT2B_uc003lzj.2_Missense_Mutation_p.R50I|MAT2B_uc003lzl.1_Missense_Mutation_p.R61I	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	61					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.3375	74.620917	76.479267	27	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162939126	162939126	9715	5	G	T	T	T	429	33	MAT2B	2	2
FAM134B	54463	broad.mit.edu	37	5	16477873	16477873	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16477873C>G	uc003jfs.2	-	c.898G>C	c.(898-900)GAG>CAG	p.E300Q	FAM134B_uc003jfr.2_Missense_Mutation_p.E159Q	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	300					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3														0.123457	16.72683	27.930634	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16477873	16477873	5643	5	C	G	G	G	416	32	FAM134B	3	3
FAM134B	54463	broad.mit.edu	37	5	16565879	16565879	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16565879T>A	uc003jfs.2	-	c.451A>T	c.(451-453)AGT>TGT	p.S151C		NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	151					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3														0.181818	9.586523	11.6788	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16565879	16565879	5643	5	T	A	A	A	715	55	FAM134B	3	3
CCDC99	54908	broad.mit.edu	37	5	169028523	169028523	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169028523G>T	uc003mae.3	+	c.1564G>T	c.(1564-1566)GTG>TTG	p.V522L	CCDC99_uc010jjj.2_Missense_Mutation_p.V451L|CCDC99_uc011deq.1_Missense_Mutation_p.V339L|CCDC99_uc010jjk.2_Missense_Mutation_p.V248L	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	522					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.27907	34.483598	36.370139	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169028523	169028523	3001	5	G	T	T	T	520	40	CCDC99	1	1
CCDC99	54908	broad.mit.edu	37	5	169028583	169028583	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169028583G>C	uc003mae.3	+	c.1624G>C	c.(1624-1626)GCT>CCT	p.A542P	CCDC99_uc010jjj.2_Missense_Mutation_p.A471P|CCDC99_uc011deq.1_Missense_Mutation_p.A359P|CCDC99_uc010jjk.2_Missense_Mutation_p.A268P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	542					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.21875	17.308122	19.640707	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169028583	169028583	3001	5	G	C	C	C	494	38	CCDC99	3	3
BASP1	10409	broad.mit.edu	37	5	17275961	17275961	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:17275961G>T	uc003jfx.2	+	c.636G>T	c.(634-636)GTG>GTT	p.V212V		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	212					glomerular visceral epithelial cell differentiation|negative regulation of gene-specific transcription	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	promoter binding|protein domain specific binding|specific transcriptional repressor activity|transcription corepressor activity				0														0.16129	7.737662	11.171562	5	26	KEEP	---	---	---	---	capture		Silent	SNP	17275961	17275961	1338	5	G	T	T	T	600	47	BASP1	2	2
CLK4	57396	broad.mit.edu	37	5	178030931	178030931	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178030931G>A	uc003mjf.1	-	c.1219C>T	c.(1219-1221)CGC>TGC	p.R407C	CLK4_uc003mjg.1_Missense_Mutation_p.R371C|CLK4_uc010jku.1_Missense_Mutation_p.R227C|CLK4_uc003mjh.1_Missense_Mutation_p.R227C|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.R227C	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	407	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)						146				0.357143	24.851537	25.35059	10	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178030931	178030931	3677	5	G	A	A	A	520	40	CLK4	1	1
SDHA	6389	broad.mit.edu	37	5	235330	235330	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:235330G>T	uc011clv.1	+	c.1136G>T	c.(1135-1137)CGC>CTC	p.R379L	SDHA_uc003jan.2_Missense_Mutation_p.R379L|SDHA_uc003jao.3_Missense_Mutation_p.R379L|SDHA_uc011clw.1_Missense_Mutation_p.R331L|SDHA_uc003jap.3_Missense_Mutation_p.R379L|SDHA_uc003jaq.3_Missense_Mutation_p.R154L|SDHA_uc003jar.3_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	379					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									0.098039	3.765557	11.988916	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235330	235330	14448	5	G	T	T	T	494	38	SDHA	1	1
MTMR12	54545	broad.mit.edu	37	5	32248925	32248925	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32248925T>A	uc003jhq.2	-	c.849A>T	c.(847-849)AAA>AAT	p.K283N	MTMR12_uc010iuk.2_Missense_Mutation_p.K283N|MTMR12_uc010iul.2_Missense_Mutation_p.K283N	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	283	Myotubularin phosphatase.					cytoplasm	phosphatase activity			ovary(1)	1														0.253968	81.421091	88.361729	32	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32248925	32248925	10334	5	T	A	A	A	725	56	MTMR12	3	3
ADAMTS12	81792	broad.mit.edu	37	5	33643550	33643550	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33643550G>T	uc003jia.1	-	c.1505C>A	c.(1504-1506)TCC>TAC	p.S502Y	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S502Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	502	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.214286	25.565543	29.791577	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33643550	33643550	258	5	G	T	T	T	533	41	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33649028	33649028	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33649028C>A	uc003jia.1	-	c.1378G>T	c.(1378-1380)GGC>TGC	p.G460C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G460C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	460					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.239437	40.449372	44.843917	17	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33649028	33649028	258	5	C	A	A	A	312	24	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33649046	33649046	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33649046C>T	uc003jia.1	-	c.1360G>A	c.(1360-1362)GAC>AAC	p.D454N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D454N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	454	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.237288	27.778764	31.555755	14	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33649046	33649046	258	5	C	T	T	T	377	29	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33751520	33751520	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33751520C>T	uc003jia.1	-	c.623G>A	c.(622-624)TGT>TAT	p.C208Y	ADAMTS12_uc010iuq.1_Missense_Mutation_p.C208Y|ADAMTS12_uc003jib.1_Missense_Mutation_p.C208Y	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	208	Cysteine switch (By similarity).	Zinc; in inhibited form (By similarity).			proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.231884	38.869835	43.409279	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33751520	33751520	258	5	C	T	T	T	221	17	ADAMTS12	2	2
SPEF2	79925	broad.mit.edu	37	5	35659183	35659183	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35659183G>T	uc003jjo.2	+	c.1041G>T	c.(1039-1041)AGG>AGT	p.R347S	SPEF2_uc003jjn.1_Missense_Mutation_p.R347S|SPEF2_uc003jjq.3_Missense_Mutation_p.R347S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	347	Potential.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.179487	12.799325	16.57086	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35659183	35659183	15547	5	G	T	T	T	529	41	SPEF2	2	2
SPEF2	79925	broad.mit.edu	37	5	35691205	35691205	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35691205A>G	uc003jjo.2	+	c.1591A>G	c.(1591-1593)ATA>GTA	p.I531V	SPEF2_uc003jjq.3_Missense_Mutation_p.I531V|SPEF2_uc003jjp.1_Missense_Mutation_p.I22V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	531					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			ovary(1)|central_nervous_system(1)	2	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.157303	23.693327	33.666301	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35691205	35691205	15547	5	A	G	G	G	104	8	SPEF2	4	4
IL7R	3575	broad.mit.edu	37	5	35873708	35873708	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35873708C>A	uc003jjs.2	+	c.664C>A	c.(664-666)CCA>ACA	p.P222T	IL7R_uc011coo.1_Missense_Mutation_p.P222T|IL7R_uc011cop.1_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	222	Extracellular (Potential).|Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)	4	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)											0.285714	55.224832	58.394172	22	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35873708	35873708	8006	5	C	A	A	A	390	30	IL7R	2	2
FYB	2533	broad.mit.edu	37	5	39119135	39119135	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39119135C>A	uc011cpl.1	-	c.2272G>T	c.(2272-2274)GAT>TAT	p.D758Y	FYB_uc003jls.2_Missense_Mutation_p.D702Y|FYB_uc003jlt.2_Missense_Mutation_p.D748Y|FYB_uc003jlu.2_Missense_Mutation_p.D702Y	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	702					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.2	6.950643	8.180793	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39119135	39119135	6375	5	C	A	A	A	377	29	FYB	2	2
C9	735	broad.mit.edu	37	5	39306837	39306837	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39306837G>C	uc003jlv.3	-	c.1298C>G	c.(1297-1299)ACC>AGC	p.T433S		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	433	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)											0.0625	-1.631841	11.112959	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39306837	39306837	2556	5	G	C	C	C	572	44	C9	3	3
DAB2	1601	broad.mit.edu	37	5	39393458	39393458	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39393458G>A	uc003jlx.2	-	c.129C>T	c.(127-129)TTC>TTT	p.F43F	DAB2_uc003jlw.2_Silent_p.F43F	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	43					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.080292	-0.957404	23.635972	11	126	KEEP	---	---	---	---	capture		Silent	SNP	39393458	39393458	4384	5	G	A	A	A	581	45	DAB2	2	2
RPL37	6167	broad.mit.edu	37	5	40834695	40834695	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40834695G>A	uc003jme.1	-	c.17C>T	c.(16-18)TCA>TTA	p.S6L	SNORD72_uc003jmf.1_5'Flank	NM_000997	NP_000988	P61927	RL37_HUMAN	ribosomal protein L37	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome				0		Breast(839;0.238)				Colon(188;1411 2035 4978 19588 31462)								0.241935	33.737735	37.565682	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40834695	40834695	14068	5	G	A	A	A	585	45	RPL37	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41032890	41032890	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41032890C>A	uc003jmj.3	-	c.2395G>T	c.(2395-2397)GCT>TCT	p.A799S	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A354S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	799	HEAT 9.						binding			ovary(6)|central_nervous_system(2)	8														0.285714	10.293322	10.870773	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41032890	41032890	7318	5	C	A	A	A	364	28	HEATR7B2	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41049430	41049430	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41049430G>T	uc003jmj.3	-	c.1453C>A	c.(1453-1455)CAG>AAG	p.Q485K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q40K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	485							binding			ovary(6)|central_nervous_system(2)	8														0.205882	13.562525	16.353595	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41049430	41049430	7318	5	G	T	T	T	598	46	HEATR7B2	2	2
MRPS30	10884	broad.mit.edu	37	5	44809482	44809482	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:44809482G>T	uc003joh.2	+	c.418G>T	c.(418-420)GCG>TCG	p.A140S	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	140					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)													0.421053	24.999187	25.101835	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44809482	44809482	10233	5	G	T	T	T	494	38	MRPS30	1	1
EXOC3	11336	broad.mit.edu	37	5	453846	453846	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:453846G>A	uc003jba.2	+	c.726G>A	c.(724-726)AAG>AAA	p.K242K		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	253					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)											0.068966	-1.534915	9.590327	4	54	KEEP	---	---	---	---	capture		Silent	SNP	453846	453846	5496	5	G	A	A	A	425	33	EXOC3	2	2
ISL1	3670	broad.mit.edu	37	5	50680542	50680542	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50680542T>A	uc003jor.2	+	c.196T>A	c.(196-198)TAC>AAC	p.Y66N		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	66	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)												0.071895	-6.148708	22.691533	11	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50680542	50680542	8160	5	T	A	A	A	689	53	ISL1	3	3
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:59284456C>G	uc003jsb.2	-	c.131G>C	c.(130-132)CGC>CCC	p.R44P	PDE4D_uc010iwj.1_Missense_Mutation_p.R44P|PDE4D_uc003jse.1_Missense_Mutation_p.R56P	NM_006203	NP_006194	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 2	Error:Variant_position_missing_in_Q08499_after_alignment					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)									0.391304	89.219625	89.930066	27	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59284456	59284456	12063	5	C	G	G	G	351	27	PDE4D	3	3
RNF180	285671	broad.mit.edu	37	5	63509680	63509680	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63509680G>A	uc003jti.2	+	c.527G>A	c.(526-528)GGA>GAA	p.G176E	RNF180_uc003jth.3_Missense_Mutation_p.G176E|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	176	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)										0.368421	62.160762	63.027865	21	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63509680	63509680	13941	5	G	A	A	A	533	41	RNF180	2	2
TNPO1	3842	broad.mit.edu	37	5	72171445	72171445	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:72171445C>G	uc003kck.3	+	c.682C>G	c.(682-684)CTC>GTC	p.L228V	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Missense_Mutation_p.L178V|TNPO1_uc003kch.2_Missense_Mutation_p.L220V|TNPO1_uc003kci.3_Missense_Mutation_p.L220V|TNPO1_uc003kcg.3_Missense_Mutation_p.L220V	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	228	HEAT 3.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)										0.12	8.721485	15.799982	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72171445	72171445	16876	5	C	G	G	G	416	32	TNPO1	3	3
PDE8B	8622	broad.mit.edu	37	5	76627258	76627258	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:76627258C>A	uc003kfa.2	+	c.682C>A	c.(682-684)CCT>ACT	p.P228T	PDE8B_uc003kfb.2_Missense_Mutation_p.P208T|PDE8B_uc003kfc.2_Missense_Mutation_p.P228T|PDE8B_uc003kfd.2_Missense_Mutation_p.P228T|PDE8B_uc003kfe.2_Missense_Mutation_p.P228T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	228					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)										0.343137	89.970014	92.198106	35	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76627258	76627258	12075	5	C	A	A	A	390	30	PDE8B	2	2
VCAN	1462	broad.mit.edu	37	5	82837667	82837667	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837667C>A	uc003kii.3	+	c.8845C>A	c.(8845-8847)CCC>ACC	p.P2949T	VCAN_uc003kij.3_Missense_Mutation_p.P1962T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1613T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2949	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.194444	27.228869	33.486305	14	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82837667	82837667	17703	5	C	A	A	A	390	30	VCAN	2	2
TRIP13	9319	broad.mit.edu	37	5	895012	895012	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:895012G>A	uc003jbr.2	+	c.203G>A	c.(202-204)AGA>AAA	p.R68K	BRD9_uc003jbn.2_5'Flank|BRD9_uc011cmb.1_5'Flank|BRD9_uc003jbo.2_5'Flank|BRD9_uc003jbq.2_5'Flank|BRD9_uc011cmc.1_5'Flank|TRIP13_uc010ite.1_Missense_Mutation_p.R68K	NM_004237	NP_004228	Q15645	TRP13_HUMAN	thyroid hormone receptor interactor 13	68					transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity				0			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)							458				0.15942	19.65029	27.345156	11	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	895012	895012	17107	5	G	A	A	A	429	33	TRIP13	2	2
TAS2R1	50834	broad.mit.edu	37	5	9630090	9630090	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9630090G>T	uc003jem.1	-	c.55C>A	c.(55-57)CTT>ATT	p.L19I		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	19	Helical; Name=1; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.086207	-2.230401	8.070749	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9630090	9630090	16087	5	G	T	T	T	429	33	TAS2R1	2	2
SIM1	6492	broad.mit.edu	37	6	100898177	100898177	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100898177G>A	uc003pqj.3	-	c.314C>T	c.(313-315)TCA>TTA	p.S105L	SIM1_uc010kcu.2_Missense_Mutation_p.S105L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	105	PAS 1.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)										0.219048	53.472732	61.108873	23	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100898177	100898177	14818	6	G	A	A	A	585	45	SIM1	2	2
ASCC3	10973	broad.mit.edu	37	6	100964152	100964152	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100964152G>T	uc003pqk.2	-	c.5979C>A	c.(5977-5979)ATC>ATA	p.I1993I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)										0.253968	40.072051	43.532037	16	47	KEEP	---	---	---	---	capture		Silent	SNP	100964152	100964152	1051	6	G	T	T	T	473	37	ASCC3	1	1
RFPL4B	442247	broad.mit.edu	37	6	112671283	112671283	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112671283G>T	uc003pvx.1	+	c.373G>T	c.(373-375)GAT>TAT	p.D125Y		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	125	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)										0.24	29.576148	32.661572	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112671283	112671283	13728	6	G	T	T	T	481	37	RFPL4B	1	1
FAM26E	254228	broad.mit.edu	37	6	116837003	116837003	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116837003G>T	uc003pwy.2	+	c.781G>T	c.(781-783)GCC>TCC	p.A261S	BET3L_uc011ebh.1_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	hypothetical protein LOC254228	261						integral to membrane					0		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)										0.183673	18.466186	23.053086	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116837003	116837003	5770	6	G	T	T	T	598	46	FAM26E	2	2
RFX6	222546	broad.mit.edu	37	6	117244365	117244365	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117244365C>A	uc003pxm.2	+	c.1533C>A	c.(1531-1533)ACC>ACA	p.T511T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	511					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.285714	48.322489	50.919353	18	45	KEEP	---	---	---	---	capture		Silent	SNP	117244365	117244365	13739	6	C	A	A	A	301	24	RFX6	2	2
HIVEP1	3096	broad.mit.edu	37	6	12161902	12161902	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12161902G>A	uc003nac.2	+	c.6718G>A	c.(6718-6720)GGG>AGG	p.G2240R	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2240					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.444444	36.395675	36.46765	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12161902	12161902	7477	6	G	A	A	A	611	47	HIVEP1	2	2
PTPRK	5796	broad.mit.edu	37	6	128294835	128294835	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128294835C>A	uc011ebu.1	-	c.4173G>T	c.(4171-4173)GGG>GGT	p.G1391G	PTPRK_uc003qbj.2_Silent_p.G1369G|PTPRK_uc010kfc.2_Silent_p.G1375G|PTPRK_uc003qbk.2_Silent_p.G1368G	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1368	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.306122	39.159007	40.773198	15	34	KEEP	---	---	---	---	capture		Silent	SNP	128294835	128294835	13262	6	C	A	A	A	275	22	PTPRK	2	2
LAMA2	3908	broad.mit.edu	37	6	129513901	129513901	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129513901A>G	uc003qbn.2	+	c.1685A>G	c.(1684-1686)GAC>GGC	p.D562G	LAMA2_uc003qbo.2_Missense_Mutation_p.D562G	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	562	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.333333	17.855416	18.29253	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129513901	129513901	8929	6	A	G	G	G	130	10	LAMA2	4	4
TMEM200A	114801	broad.mit.edu	37	6	130762366	130762366	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762366G>A	uc003qca.2	+	c.799G>A	c.(799-801)GAT>AAT	p.D267N	TMEM200A_uc010kfh.2_Missense_Mutation_p.D267N|TMEM200A_uc010kfi.2_Missense_Mutation_p.D267N|TMEM200A_uc003qcb.2_Missense_Mutation_p.D267N	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	267	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.296296	39.026839	41.067226	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130762366	130762366	16658	6	G	A	A	A	585	45	TMEM200A	2	2
BCLAF1	9774	broad.mit.edu	37	6	136599485	136599485	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136599485C>A	uc003qgx.1	-	c.534G>T	c.(532-534)CCG>CCT	p.P178P	BCLAF1_uc003qgw.1_Silent_p.P178P|BCLAF1_uc003qgy.1_Silent_p.P176P|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.P176P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	178					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.103825	16.165964	44.897267	19	164	KEEP	---	---	---	---	capture		Silent	SNP	136599485	136599485	1404	6	C	A	A	A	236	19	BCLAF1	1	1
BCLAF1	9774	broad.mit.edu	37	6	136600958	136600958	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136600958C>A	uc003qgx.1	-	c.47G>T	c.(46-48)AGA>ATA	p.R16I	BCLAF1_uc003qgw.1_Missense_Mutation_p.R16I|BCLAF1_uc003qgy.1_Missense_Mutation_p.R16I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R16I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	16					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.142857	12.372721	19.248189	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136600958	136600958	1404	6	C	A	A	A	416	32	BCLAF1	2	2
UTRN	7402	broad.mit.edu	37	6	144757093	144757093	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144757093A>T	uc003qkt.2	+	c.878A>T	c.(877-879)CAT>CTT	p.H293L	UTRN_uc010khq.1_Missense_Mutation_p.H293L	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	293	Interaction with SYNM.|Spectrin 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.363636	24.59432	24.95413	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144757093	144757093	17668	6	A	T	T	T	104	8	UTRN	3	3
SHPRH	257218	broad.mit.edu	37	6	146275911	146275911	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146275911C>T	uc003qld.2	-	c.548G>A	c.(547-549)GGT>GAT	p.G183D	SHPRH_uc003qle.2_Missense_Mutation_p.G183D|SHPRH_uc003qlf.2_Missense_Mutation_p.G183D|SHPRH_uc003qlg.1_De_novo_Start_InFrame|SHPRH_uc003qlj.1_Missense_Mutation_p.G72D|SHPRH_uc003qlk.1_Missense_Mutation_p.G183D	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	183					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)	2		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.193548	27.365544	32.798098	12	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146275911	146275911	14786	6	C	T	T	T	234	18	SHPRH	2	2
STXBP5	134957	broad.mit.edu	37	6	147680374	147680374	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:147680374G>T	uc003qlz.2	+	c.2460G>T	c.(2458-2460)ACG>ACT	p.T820T	STXBP5_uc010khz.1_Silent_p.T784T|STXBP5_uc003qlx.2_Non-coding_Transcript|STXBP5_uc003qly.2_Silent_p.T475T	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	820	WD 11.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)										0.209302	21.975658	25.321074	9	34	KEEP	---	---	---	---	capture		Silent	SNP	147680374	147680374	15876	6	G	T	T	T	483	38	STXBP5	1	1
IGF2R	3482	broad.mit.edu	37	6	160517644	160517644	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160517644G>T	uc003qta.2	+	c.6829G>T	c.(6829-6831)GTG>TTG	p.V2277L		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	2277	15.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.219512	23.154281	26.124138	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160517644	160517644	7877	6	G	T	T	T	520	40	IGF2R	1	1
LPA	4018	broad.mit.edu	37	6	160978466	160978466	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160978466G>A	uc003qtl.2	-	c.4769C>T	c.(4768-4770)CCC>CTC	p.P1590L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4098	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.329545	85.481	87.729499	29	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160978466	160978466	9276	6	G	A	A	A	559	43	LPA	2	2
LPA	4018	broad.mit.edu	37	6	161010597	161010597	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161010597T>A	uc003qtl.2	-	c.3935A>T	c.(3934-3936)TAC>TTC	p.Y1312F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3820	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.272727	22.962339	24.498674	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161010597	161010597	9276	6	T	A	A	A	741	57	LPA	3	3
PLG	5340	broad.mit.edu	37	6	161162348	161162348	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161162348C>T	uc003qtm.3	+	c.2024C>T	c.(2023-2025)GCC>GTC	p.A675V		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	675	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)									0.175	14.206479	18.186982	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161162348	161162348	12512	6	C	T	T	T	338	26	PLG	2	2
MAP3K4	4216	broad.mit.edu	37	6	161530849	161530849	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161530849G>T	uc003qtn.2	+	c.4299G>T	c.(4297-4299)CTG>CTT	p.L1433L	MAP3K4_uc010kkc.1_Silent_p.L1429L|MAP3K4_uc003qto.2_Silent_p.L1383L|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_Silent_p.L886L|MAP3K4_uc003qtp.2_Silent_p.L369L|MAP3K4_uc003qtq.2_Silent_p.L122L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1433	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.3125	42.046882	43.52801	15	33	KEEP	---	---	---	---	capture		Silent	SNP	161530849	161530849	9635	6	G	T	T	T	600	47	MAP3K4	2	2
UNC93A	54346	broad.mit.edu	37	6	167719471	167719471	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167719471C>G	uc003qvq.2	+	c.909C>G	c.(907-909)GAC>GAG	p.D303E	UNC93A_uc003qvr.2_Missense_Mutation_p.D261E	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	303	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.219858	80.88582	91.050023	31	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167719471	167719471	17555	6	C	G	G	G	246	19	UNC93A	3	3
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26252218G>A	uc003nhh.2	+	c.340G>A	c.(340-342)GAG>AAG	p.E114K	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(3)	3														0.148148	13.963687	20.381784	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26252218	26252218	7432	6	G	A	A	A	481	37	HIST1H2BH	1	1
OR2J3	442186	broad.mit.edu	37	6	29080108	29080108	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29080108G>T	uc011dll.1	+	c.441G>T	c.(439-441)CTG>CTT	p.L147L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.449102	228.824857	229.197783	75	92	KEEP	---	---	---	---	capture		Silent	SNP	29080108	29080108	11410	6	G	T	T	T	600	47	OR2J3	2	2
OR10C1	442194	broad.mit.edu	37	6	29407951	29407951	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29407951C>T	uc011dlp.1	+	c.159C>T	c.(157-159)GCC>GCT	p.A53A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q6IFQ5	Q6IFQ5_HUMAN	olfactory receptor, family 10, subfamily C,	53						integral to membrane	olfactory receptor activity				0														0.303797	70.981557	73.688909	24	55	KEEP	---	---	---	---	capture		Silent	SNP	29407951	29407951	11304	6	C	T	T	T	275	22	OR10C1	2	2
RIPK1	8737	broad.mit.edu	37	6	3105950	3105950	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3105950G>T	uc010jni.2	+	c.1241G>T	c.(1240-1242)AGG>ATG	p.R414M	RIPK1_uc003muv.3_Missense_Mutation_p.R251M|RIPK1_uc003muw.3_Missense_Mutation_p.R349M|RIPK1_uc011dhs.1_Missense_Mutation_p.R368M|RIPK1_uc003mux.2_Missense_Mutation_p.R414M	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	414	Poly-Arg.|Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|regulation of oxygen and reactive oxygen species metabolic process|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|tumor necrosis factor-mediated signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)								138				0.333333	37.3899	38.335576	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3105950	3105950	13857	6	G	T	T	T	455	35	RIPK1	2	2
BAT1	7919	broad.mit.edu	37	6	31500659	31500659	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31500659C>A	uc003ntt.2	-	c.765G>T	c.(763-765)ACG>ACT	p.T255T	BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Silent_p.T62T|BAT1_uc003nts.2_Silent_p.T255T|BAT1_uc011dnn.1_Silent_p.T177T|BAT1_uc003ntu.2_Silent_p.T255T|BAT1_uc003ntv.2_Silent_p.T255T	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	255					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0														0.111111	3.610779	7.642876	3	24	KEEP	---	---	---	---	capture		Silent	SNP	31500659	31500659	1339	6	C	A	A	A	392	31	BAT1	1	1
NOTCH4	4855	broad.mit.edu	37	6	32188337	32188337	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32188337G>C	uc003obb.2	-	c.1004C>G	c.(1003-1005)TCT>TGT	p.S335C	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript|NOTCH4_uc003obc.2_Missense_Mutation_p.S335C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	335	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14									p.S335Y(ESS1-Tumor)	693				0.28125	51.038837	53.78182	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32188337	32188337	10954	6	G	C	C	C	429	33	NOTCH4	3	3
HLA-DRA	3122	broad.mit.edu	37	6	32411630	32411630	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32411630C>G	uc003obh.2	+	c.708C>G	c.(706-708)ATC>ATG	p.I236M	HLA-DRA_uc003obi.2_Missense_Mutation_p.I211M	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	236	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)	1														0.452381	124.310187	124.479318	38	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32411630	32411630	7498	6	C	G	G	G	408	32	HLA-DRA	3	3
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35810348C>G	uc003olj.2	-	c.1654G>C	c.(1654-1656)GAA>CAA	p.E552Q	SRPK1_uc011dtg.1_Missense_Mutation_p.E536Q|SRPK1_uc003olh.2_Missense_Mutation_p.E445Q|SRPK1_uc003oli.2_Missense_Mutation_p.E445Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	552	Protein kinase.				cell differentiation|chromosome segregation|innate immune response|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|protein phosphorylation|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						NSCLC(31;67 978 16289 24856 26454)				211				0.25	15.683645	16.807557	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35810348	35810348	15673	6	C	G	G	G	377	29	SRPK1	3	3
KIF6	221458	broad.mit.edu	37	6	39387722	39387722	+	Splice_Site_SNP	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39387722A>T	uc003oot.2	-	c.1810_splice	c.e15+1	p.G604_splice	KIF6_uc003oos.2_Splice_Site_SNP_p.G55_splice|KIF6_uc010jwz.1_Splice_Site_SNP|KIF6_uc010jxa.1_Splice_Site_SNP_p.G395_splice|KIF6_uc011dua.1_Splice_Site_SNP_p.G604_splice|KIF6_uc010jxb.1_Splice_Site_SNP_p.G548_splice	NM_145027	NP_659464			kinesin family member 6						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3														0.45614	79.939805	80.035482	26	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	39387722	39387722	8619	6	A	T	T	T	182	14	KIF6	5	3
TBCC	6903	broad.mit.edu	37	6	42713641	42713641	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42713641G>T	uc003osl.2	-	c.171C>A	c.(169-171)AGC>AGA	p.S57R		NM_003192	NP_003183	Q15814	TBCC_HUMAN	beta-tubulin cofactor C	57					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity				0	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)											0.282051	26.213442	27.880507	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42713641	42713641	16157	6	G	T	T	T	542	42	TBCC	2	2
ABCC10	89845	broad.mit.edu	37	6	43417772	43417772	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43417772C>A	uc003ouy.1	+	c.4422C>A	c.(4420-4422)TTC>TTA	p.F1474L	ABCC10_uc003ouz.1_Missense_Mutation_p.F1446L|ABCC10_uc010jyo.1_Missense_Mutation_p.F580L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1474	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(5)|central_nervous_system(1)	6	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)											0.146667	13.714095	22.849706	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43417772	43417772	51	6	C	A	A	A	389	30	ABCC10	2	2
CAPN11	11131	broad.mit.edu	37	6	44144383	44144383	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44144383G>T	uc003owt.1	+	c.1067G>T	c.(1066-1068)GGG>GTG	p.G356V	CAPN11_uc011dvn.1_Missense_Mutation_p.G10V	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	356	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)											0.314286	27.906348	28.983989	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44144383	44144383	2741	6	G	T	T	T	559	43	CAPN11	2	2
DEFB114	245928	broad.mit.edu	37	6	49928016	49928016	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49928016C>T	uc011dwp.1	-	c.199G>A	c.(199-201)GAT>AAT	p.D67N		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	beta-defensin 114 precursor	67					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)													0.294118	25.426329	26.723178	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49928016	49928016	4580	6	C	T	T	T	377	29	DEFB114	2	2
IL17F	112744	broad.mit.edu	37	6	52103604	52103604	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52103604C>A	uc003pam.1	-	c.178G>T	c.(178-180)GGC>TGC	p.G60C	IL17F_uc003pal.1_Missense_Mutation_p.G6C	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	interleukin 17F precursor	60					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			ovary(1)	1	Lung NSC(77;0.116)													0.363636	35.991057	36.530935	12	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52103604	52103604	7939	6	C	A	A	A	273	21	IL17F	2	2
F13A1	2162	broad.mit.edu	37	6	6305623	6305623	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6305623C>A	uc003mwv.2	-	c.280G>T	c.(280-282)GAC>TAC	p.D94Y	F13A1_uc011dib.1_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	94					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.31746	51.274265	53.142519	20	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6305623	6305623	5534	6	C	A	A	A	377	29	F13A1	2	2
PHF3	23469	broad.mit.edu	37	6	64356528	64356528	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:64356528C>T	uc003pep.1	+	c.72C>T	c.(70-72)TCC>TCT	p.S24S	PHF3_uc010kaf.1_Silent_p.S24S|PHF3_uc003pem.2_5'UTR|PHF3_uc010kag.1_Intron|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_5'UTR|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Silent_p.S24S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	24					multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GBM(135;136 1820 29512 34071 46235)				350				0.275362	50.948155	54.122489	19	50	KEEP	---	---	---	---	capture		Silent	SNP	64356528	64356528	12259	6	C	T	T	T	262	21	PHF3	2	2
COL19A1	1310	broad.mit.edu	37	6	70850878	70850878	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70850878T>A	uc003pfc.1	+	c.1479T>A	c.(1477-1479)GAT>GAA	p.D493E	COL19A1_uc010kam.1_Missense_Mutation_p.D389E	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	493	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.242424	61.355433	67.342131	24	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70850878	70850878	3814	6	T	A	A	A	634	49	COL19A1	3	3
COL19A1	1310	broad.mit.edu	37	6	70890392	70890392	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70890392C>A	uc003pfc.1	+	c.2752C>A	c.(2752-2754)CCA>ACA	p.P918T		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	918	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.272727	25.063432	26.597885	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70890392	70890392	3814	6	C	A	A	A	234	18	COL19A1	2	2
IMPG1	3617	broad.mit.edu	37	6	76744338	76744338	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76744338C>T	uc003pik.1	-	c.468G>A	c.(466-468)CAG>CAA	p.Q156Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	156					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.268293	31.506334	33.493471	11	30	KEEP	---	---	---	---	capture		Silent	SNP	76744338	76744338	8029	6	C	T	T	T	311	24	IMPG1	2	2
MRAP2	112609	broad.mit.edu	37	6	84772676	84772676	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84772676G>T	uc003pkg.3	+	c.192G>T	c.(190-192)CTG>CTT	p.L64L	MRAP2_uc010kbo.2_Intron	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	64					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	adrenocorticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0														0.20339	23.285783	28.094042	12	47	KEEP	---	---	---	---	capture		Silent	SNP	84772676	84772676	10146	6	G	T	T	T	574	45	MRAP2	2	2
CGA	1081	broad.mit.edu	37	6	87796049	87796049	+	Silent	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87796049T>A	uc003plj.1	-	c.192A>T	c.(190-192)CCA>CCT	p.P64P		NM_000735	NP_000726	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	64					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)	1		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)										0.171429	38.014969	48.708681	18	87	KEEP	---	---	---	---	capture		Silent	SNP	87796049	87796049	3428	6	T	A	A	A	756	59	CGA	3	3
GABRR1	2569	broad.mit.edu	37	6	89888660	89888660	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89888660C>A	uc003pna.2	-	c.1269G>T	c.(1267-1269)ATG>ATT	p.M423I	GABRR1_uc011dzv.1_Missense_Mutation_p.M400I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	423	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)									0.25641	45.928621	50.159901	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89888660	89888660	6427	6	C	A	A	A	377	29	GABRR1	2	2
AGFG2	3268	broad.mit.edu	37	7	100151090	100151090	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100151090G>T	uc003uvf.2	+	c.552G>T	c.(550-552)CCG>CCT	p.P184P	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.R46L	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	184					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1														0.26087	46.692967	50.289214	18	51	KEEP	---	---	---	---	capture		Silent	SNP	100151090	100151090	384	7	G	T	T	T	509	40	AGFG2	1	1
AGFG2	3268	broad.mit.edu	37	7	100159952	100159952	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100159952C>T	uc003uvf.2	+	c.948C>T	c.(946-948)GAC>GAT	p.D316D	AGFG2_uc010lgy.2_Missense_Mutation_p.T178M	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	316					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1														0.340909	42.81941	43.799864	15	29	KEEP	---	---	---	---	capture		Silent	SNP	100159952	100159952	384	7	C	T	T	T	246	19	AGFG2	1	1
LRCH4	4034	broad.mit.edu	37	7	100176407	100176407	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100176407G>A	uc003uvj.2	-	c.601C>T	c.(601-603)CTG>TTG	p.L201L	LRCH4_uc010lgz.2_Non-coding_Transcript|LRCH4_uc003uvi.2_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	201	LRR 7.				nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.170213	13.932609	18.72147	8	39	KEEP	---	---	---	---	capture		Silent	SNP	100176407	100176407	9308	7	G	A	A	A	438	34	LRCH4	2	2
ZAN	7455	broad.mit.edu	37	7	100359848	100359848	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100359848G>T	uc003uwj.2	+	c.3853G>T	c.(3853-3855)GGC>TGC	p.G1285C	ZAN_uc003uwk.2_Missense_Mutation_p.G1285C|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kkd.1_5'UTR	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1285	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.259259	18.712336	20.129706	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100359848	100359848	18096	7	G	T	T	T	611	47	ZAN	2	2
ZAN	7455	broad.mit.edu	37	7	100383678	100383678	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100383678C>T	uc003uwj.2	+	c.6894C>T	c.(6892-6894)GCC>GCT	p.A2298A	ZAN_uc003uwk.2_Silent_p.A2298A|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Silent_p.A348A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2298	VWFC 4.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.318182	41.035119	42.327655	14	30	KEEP	---	---	---	---	capture		Silent	SNP	100383678	100383678	18096	7	C	T	T	T	262	21	ZAN	2	2
MUC17	140453	broad.mit.edu	37	7	100678017	100678017	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100678017C>A	uc003uxp.1	+	c.3320C>A	c.(3319-3321)CCT>CAT	p.P1107H	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1107	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|16.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.065693	-38.056832	95.747324	45	640	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100678017	100678017	10368	7	C	A	A	A	312	24	MUC17	2	2
PMPCB	9512	broad.mit.edu	37	7	102939074	102939074	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102939074G>T	uc003vbk.1	+	c.159G>T	c.(157-159)CTG>CTT	p.L53L	PMPCB_uc010liu.1_Silent_p.L53L|PMPCB_uc003vbl.2_Silent_p.L53L|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	53					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4														0.27027	95.373862	102.473358	40	108	KEEP	---	---	---	---	capture		Silent	SNP	102939074	102939074	12567	7	G	T	T	T	574	45	PMPCB	2	2
RELN	5649	broad.mit.edu	37	7	103163867	103163867	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103163867G>T	uc003vca.2	-	c.7461C>A	c.(7459-7461)GGC>GGA	p.G2487G	RELN_uc010liz.2_Silent_p.G2487G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2487	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.145455	23.607863	36.845511	16	94	KEEP	---	---	---	---	capture		Silent	SNP	103163867	103163867	13689	7	G	T	T	T	535	42	RELN	2	2
RELN	5649	broad.mit.edu	37	7	103368565	103368565	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103368565C>A	uc003vca.2	-	c.746G>T	c.(745-747)CGA>CTA	p.R249L	RELN_uc010liz.2_Missense_Mutation_p.R249L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	249					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.346939	45.520484	46.551842	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103368565	103368565	13689	7	C	A	A	A	403	31	RELN	1	1
MET	4233	broad.mit.edu	37	7	116423428	116423428	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116423428T>C	uc010lkh.2	+	c.3757T>C	c.(3757-3759)TAT>CAT	p.Y1253H	MET_uc003vij.2_Missense_Mutation_p.Y1235H|MET_uc011knj.1_Missense_Mutation_p.Y805H	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	1235	Protein kinase.|Interaction with RANBP9.|Cytoplasmic (Potential).				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.Y1253D(47)		upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)							299				0.152778	21.68928	29.988442	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116423428	116423428	9874	7	T	C	C	C	689	53	MET	4	4
C7orf58	79974	broad.mit.edu	37	7	120876855	120876855	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120876855C>G	uc003vjq.3	+	c.2143C>G	c.(2143-2145)CTA>GTA	p.L715V	C7orf58_uc003vjs.3_Missense_Mutation_p.L715V|C7orf58_uc003vjt.3_Missense_Mutation_p.L495V	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	715						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.180328	23.486518	29.352209	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120876855	120876855	2512	7	C	G	G	G	259	20	C7orf58	3	3
RNF133	168433	broad.mit.edu	37	7	122338680	122338680	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122338680G>A	uc003vkj.1	-	c.293C>T	c.(292-294)TCA>TTA	p.S98L	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	98	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding				0						Colon(198;1778 2057 7449 19869 45985)								0.133333	39.465805	66.86294	28	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122338680	122338680	13916	7	G	A	A	A	585	45	RNF133	2	2
HYAL4	23553	broad.mit.edu	37	7	123508347	123508347	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123508347G>T	uc003vlc.2	+	c.20G>T	c.(19-21)GGA>GTA	p.G7V	HYAL4_uc011knz.1_Missense_Mutation_p.G7V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	7	Cytoplasmic (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity				0														0.330097	90.816896	93.451294	34	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123508347	123508347	7766	7	G	T	T	T	533	41	HYAL4	2	2
SCIN	85477	broad.mit.edu	37	7	12679984	12679984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:12679984C>T	uc003ssn.3	+	c.1423C>T	c.(1423-1425)CAA>TAA	p.Q475*	SCIN_uc010ktt.2_Non-coding_Transcript|SCIN_uc003sso.3_Nonsense_Mutation_p.Q228*	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	475	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)										0.409091	28.970909	29.129746	9	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12679984	12679984	14387	7	C	T	T	T	273	21	SCIN	5	2
FSCN3	29999	broad.mit.edu	37	7	127239547	127239547	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127239547G>T	uc003vmd.1	+	c.1233G>T	c.(1231-1233)CAG>CAT	p.Q411H	FSCN3_uc011koh.1_Missense_Mutation_p.Q277H|FSCN3_uc010llc.1_Missense_Mutation_p.Q411H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	411						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1														0.222222	46.050674	52.440898	20	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127239547	127239547	6319	7	G	T	T	T	451	35	FSCN3	2	2
METTL2B	55798	broad.mit.edu	37	7	128138196	128138196	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128138196G>C	uc003vnf.2	+	c.916G>C	c.(916-918)GGT>CGT	p.G306R	METTL2B_uc003vng.2_Missense_Mutation_p.G241R|METTL2B_uc011kop.1_Missense_Mutation_p.G170R	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	306							methyltransferase activity				0														0.12766	6.757427	13.078202	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128138196	128138196	9890	7	G	C	C	C	455	35	METTL2B	3	3
OPN1SW	611	broad.mit.edu	37	7	128414653	128414653	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128414653G>T	uc003vnt.3	-	c.586C>A	c.(586-588)CGC>AGC	p.R196S		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	196	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0														0.19697	31.291127	36.896334	13	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128414653	128414653	11286	7	G	T	T	T	507	39	OPN1SW	1	1
CPA5	93979	broad.mit.edu	37	7	130007240	130007240	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130007240C>A	uc010lmd.1	+	c.866C>A	c.(865-867)TCA>TAA	p.S289*	CPA5_uc003vps.2_Nonsense_Mutation_p.S289*|CPA5_uc003vpt.2_Nonsense_Mutation_p.S289*|CPA5_uc010lme.1_Nonsense_Mutation_p.S289*|CPA5_uc003vpu.1_Nonsense_Mutation_p.S289*	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	289					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.095238	1.966025	8.875317	4	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130007240	130007240	3931	7	C	A	A	A	377	29	CPA5	5	2
LRGUK	136332	broad.mit.edu	37	7	133884105	133884105	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:133884105C>A	uc003vrm.1	+	c.1679C>A	c.(1678-1680)TCC>TAC	p.S560Y		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	560	Guanylate kinase-like.						ATP binding|kinase activity			lung(2)|kidney(1)|skin(1)	4										973				0.273437	88.086215	93.996891	35	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133884105	133884105	9316	7	C	A	A	A	390	30	LRGUK	2	2
LRGUK	136332	broad.mit.edu	37	7	133948696	133948696	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:133948696C>A	uc003vrm.1	+	c.2447C>A	c.(2446-2448)ACC>AAC	p.T816N		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain	816							ATP binding|kinase activity			lung(2)|kidney(1)|skin(1)	4										973				0.547619	66.799497	66.880319	23	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133948696	133948696	9316	7	C	A	A	A	234	18	LRGUK	2	2
EPHB6	2051	broad.mit.edu	37	7	142564763	142564763	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142564763C>G	uc011kst.1	+	c.1687C>G	c.(1687-1689)CGG>GGG	p.R563G	EPHB6_uc011ksu.1_Missense_Mutation_p.R563G|EPHB6_uc003wbs.2_Missense_Mutation_p.R271G|EPHB6_uc003wbt.2_Missense_Mutation_p.R37G|EPHB6_uc003wbu.2_Missense_Mutation_p.R271G|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	563	Fibronectin type-III 2.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|large_intestine(4)|central_nervous_system(3)|ovary(1)|pancreas(1)	14	Melanoma(164;0.059)									313				0.210526	28.160116	32.596263	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142564763	142564763	5371	7	C	G	G	G	295	23	EPHB6	3	3
TRPV6	55503	broad.mit.edu	37	7	142571321	142571321	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142571321G>C	uc003wbx.1	-	c.1668C>G	c.(1666-1668)AGC>AGG	p.S556R	TRPV6_uc003wbw.1_Missense_Mutation_p.S342R|TRPV6_uc010lou.1_Missense_Mutation_p.S427R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	556					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.218391	49.981241	56.33759	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142571321	142571321	17151	7	G	C	C	C	594	46	TRPV6	3	3
CLCN1	1180	broad.mit.edu	37	7	143047529	143047529	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143047529A>T	uc003wcr.1	+	c.2468A>T	c.(2467-2469)CAG>CTG	p.Q823L	CLCN1_uc011ktc.1_Missense_Mutation_p.Q435L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	823	CBS 2.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.15625	10.95495	14.56339	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143047529	143047529	3598	7	A	T	T	T	91	7	CLCN1	3	3
CLCN1	1180	broad.mit.edu	37	7	143047730	143047730	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143047730G>T	uc003wcr.1	+	c.2578G>T	c.(2578-2580)GTC>TTC	p.V860F	CLCN1_uc011ktc.1_Missense_Mutation_p.V472F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	860	CBS 2.|Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.138889	30.788728	49.067386	20	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143047730	143047730	3598	7	G	T	T	T	520	40	CLCN1	1	1
FAM131B	9715	broad.mit.edu	37	7	143053713	143053713	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143053713C>G	uc010lpa.2	-	c.1013G>C	c.(1012-1014)CGG>CCG	p.R338P	FAM131B_uc010loz.2_Missense_Mutation_p.R278P|FAM131B_uc003wct.2_Missense_Mutation_p.R310P|FAM131B_uc003wcu.3_Missense_Mutation_p.R310P	NM_001031690	NP_001026860	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform a	310											0	Melanoma(164;0.205)													0.147287	25.16003	40.594272	19	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143053713	143053713	5637	7	C	G	G	G	299	23	FAM131B	3	3
ZYX	7791	broad.mit.edu	37	7	143078840	143078840	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143078840G>T	uc003wcw.2	+	c.176G>T	c.(175-177)CGG>CTG	p.R59L	ZYX_uc011ktd.1_Intron|ZYX_uc003wcx.2_Missense_Mutation_p.R59L|ZYX_uc011kte.1_Missense_Mutation_p.R59L|ZYX_uc011ktf.1_5'Flank	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	59					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)													0.333333	10.708078	10.99729	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143078840	143078840	18860	7	G	T	T	T	507	39	ZYX	1	1
OR2A2	442361	broad.mit.edu	37	7	143807496	143807496	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143807496C>A	uc011ktz.1	+	c.821C>A	c.(820-822)TCC>TAC	p.S274Y		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.084615	-2.501544	20.212694	11	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143807496	143807496	11383	7	C	A	A	A	390	30	OR2A2	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147092746	147092746	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147092746C>A	uc003weu.1	+	c.1544C>A	c.(1543-1545)CCT>CAT	p.P515H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	515	Extracellular (Potential).|Laminin G-like 2.				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)											0.195804	60.642849	72.960008	28	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147092746	147092746	3785	7	C	A	A	A	312	24	CNTNAP2	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147092781	147092781	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147092781G>T	uc003weu.1	+	c.1579G>T	c.(1579-1581)GAC>TAC	p.D527Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	527	Extracellular (Potential).|Laminin G-like 2.				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)											0.252101	71.105396	77.741016	30	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147092781	147092781	3785	7	G	T	T	T	533	41	CNTNAP2	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147259350	147259350	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147259350G>T	uc003weu.1	+	c.1897_splice	c.e12+1	p.E633_splice		NM_014141	NP_054860			cell recognition molecule Caspr2 precursor						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)											0.123288	13.834243	23.959457	9	64	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	147259350	147259350	3785	7	G	T	T	T	572	44	CNTNAP2	5	2
CNTNAP2	26047	broad.mit.edu	37	7	148080826	148080826	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148080826C>A	uc003weu.1	+	c.3561C>A	c.(3559-3561)ATC>ATA	p.I1187I	CNTNAP2_uc003wev.1_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1187	Laminin G-like 4.|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)											0.243902	24.536371	26.982554	10	31	KEEP	---	---	---	---	capture		Silent	SNP	148080826	148080826	3785	7	C	A	A	A	395	31	CNTNAP2	1	1
SSPO	23145	broad.mit.edu	37	7	149509063	149509063	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149509063G>A	uc010lpk.2	+	c.9609G>A	c.(9607-9609)CGG>CGA	p.R3203R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3203	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.111111	3.51068	7.542792	3	24	KEEP	---	---	---	---	capture		Silent	SNP	149509063	149509063	15705	7	G	A	A	A	561	44	SSPO	2	2
SSPO	23145	broad.mit.edu	37	7	149521636	149521636	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149521636C>T	uc010lpk.2	+	c.13715C>T	c.(13714-13716)TCA>TTA	p.S4572L	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4572					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.25	18.590252	20.405758	8	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149521636	149521636	15705	7	C	T	T	T	377	29	SSPO	2	2
ABCB8	11194	broad.mit.edu	37	7	150742373	150742373	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150742373G>T	uc003wil.3	+	c.2145G>T	c.(2143-2145)CCG>CCT	p.P715P	ABCB8_uc010lpx.2_Silent_p.P673P|ABCB8_uc011kvd.1_Silent_p.P610P|ABCB8_uc003wim.3_Silent_p.P493P|ABCB8_uc003wik.3_Silent_p.P698P	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	715						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.121212	5.979887	10.617032	4	29	KEEP	---	---	---	---	capture		Silent	SNP	150742373	150742373	48	7	G	T	T	T	470	37	ABCB8	1	1
TMEM195	392636	broad.mit.edu	37	7	15240919	15240919	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15240919A>T	uc003stb.1	-	c.1329T>A	c.(1327-1329)CCT>CCA	p.P443P		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	443					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.347826	47.186625	48.126603	16	30	KEEP	---	---	---	---	capture		Silent	SNP	15240919	15240919	16652	7	A	T	T	T	28	3	TMEM195	3	3
DPP6	1804	broad.mit.edu	37	7	154684122	154684122	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154684122G>T	uc003wlk.2	+	c.2530G>T	c.(2530-2532)GTG>TTG	p.V844L	DPP6_uc003wli.2_Missense_Mutation_p.V780L|DPP6_uc003wlm.2_Missense_Mutation_p.V782L|DPP6_uc011kvq.1_Missense_Mutation_p.V737L	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	844	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			NSCLC(125;1384 1783 2490 7422 34254)								0.185185	23.420139	28.436233	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154684122	154684122	4914	7	G	T	T	T	520	40	DPP6	1	1
TMEM195	392636	broad.mit.edu	37	7	15584536	15584536	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15584536C>G	uc003stb.1	-	c.270G>C	c.(268-270)AGG>AGC	p.R90S		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	90					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.186047	40.053765	47.993028	16	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15584536	15584536	16652	7	C	G	G	G	389	30	TMEM195	3	3
TMEM195	392636	broad.mit.edu	37	7	15601446	15601446	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15601446C>A	uc003stb.1	-	c.25G>T	c.(25-27)GAT>TAT	p.D9Y		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	9					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.26087	44.130546	47.694602	18	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15601446	15601446	16652	7	C	A	A	A	390	30	TMEM195	2	2
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18788727G>T	uc003sui.2	+	c.2009G>T	c.(2008-2010)CGA>CTA	p.R670L	HDAC9_uc003sue.2_Missense_Mutation_p.R667L|HDAC9_uc011jyd.1_Missense_Mutation_p.R667L|HDAC9_uc003suh.2_Missense_Mutation_p.R667L|HDAC9_uc003suj.2_Missense_Mutation_p.R626L|HDAC9_uc003sua.1_Missense_Mutation_p.R645L|HDAC9_uc010kue.1_Missense_Mutation_p.R322L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.285714	9.592941	10.170769	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18788727	18788727	7297	7	G	T	T	T	481	37	HDAC9	1	1
FERD3L	222894	broad.mit.edu	37	7	19184799	19184799	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184799C>T	uc003suo.1	-	c.187G>A	c.(187-189)GAA>AAA	p.E63K		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	63	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.12	3.126112	6.652366	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184799	19184799	6053	7	C	T	T	T	416	32	FERD3L	2	2
ABCB5	340273	broad.mit.edu	37	7	20721223	20721224	+	Nonsense_Mutation	DNP	GG	TT	TT	rs60403688	byFrequency;by1000genomes	TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20721223_20721224GG>TT	uc010kuh.2	+	c.1803_1804GG>TT	c.(1801-1806)GCGGAG>GCTTAG	p.E602*	ABCB5_uc003suw.3_Nonsense_Mutation_p.E157*	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	157	ABC transporter 1.|Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.216216	42.47799	47.961997	16	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	20721223	20721224	45	7	GG	TT	TT	TT	496	39	ABCB5	5	1
DNAH11	8701	broad.mit.edu	37	7	21639422	21639422	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21639422C>T	uc003svc.2	+	c.2685C>T	c.(2683-2685)TTC>TTT	p.F895F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	895	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.227273	12.663304	14.165212	5	17	KEEP	---	---	---	---	capture		Silent	SNP	21639422	21639422	4781	7	C	T	T	T	376	29	DNAH11	2	2
HOXA5	3202	broad.mit.edu	37	7	27183050	27183050	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27183050C>A	uc003syn.1	-	c.177G>T	c.(175-177)TCG>TCT	p.S59S		NM_019102	NP_061975	P20719	HXA5_HUMAN	homeobox A5	59					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0						Colon(119;75 2200 7557 42868)								0.151515	8.154667	11.992714	5	28	KEEP	---	---	---	---	capture		Silent	SNP	27183050	27183050	7587	7	C	A	A	A	288	23	HOXA5	1	1
EVX1	2128	broad.mit.edu	37	7	27285713	27285713	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27285713C>T	uc003szd.1	+	c.893C>T	c.(892-894)TCG>TTG	p.S298L	EVX1_uc011jzn.1_Missense_Mutation_p.S116L|EVX1_uc010kuy.1_3'UTR	NM_001989	NP_001980	P49640	EVX1_HUMAN	even-skipped homeobox 1	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.444444	12.300418	12.324306	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27285713	27285713	5487	7	C	T	T	T	403	31	EVX1	1	1
CARD11	84433	broad.mit.edu	37	7	2984049	2984049	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2984049C>A	uc003smv.2	-	c.481G>T	c.(481-483)GAT>TAT	p.D161Y		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	161	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.092593	2.579495	20.613759	10	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2984049	2984049	2764	7	C	A	A	A	390	30	CARD11	2	2
ADCYAP1R1	117	broad.mit.edu	37	7	31125054	31125054	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31125054C>T	uc003tcc.1	+	c.666C>T	c.(664-666)TCC>TCT	p.S222S	ADCYAP1R1_uc003tca.1_Silent_p.S222S|ADCYAP1R1_uc003tcb.1_Silent_p.S201S|ADCYAP1R1_uc003tcd.1_Silent_p.S222S|ADCYAP1R1_uc003tce.1_Silent_p.S222S|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	222	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						Ovarian(44;225 1186 2158 11092)								0.27381	57.986527	61.860496	23	61	KEEP	---	---	---	---	capture		Silent	SNP	31125054	31125054	304	7	C	T	T	T	262	21	ADCYAP1R1	2	2
ADCYAP1R1	117	broad.mit.edu	37	7	31126008	31126008	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31126008A>T	uc003tcc.1	+	c.680A>T	c.(679-681)AAG>ATG	p.K227M	ADCYAP1R1_uc003tca.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.K206M|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.K227M|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	227	Extracellular (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						Ovarian(44;225 1186 2158 11092)								0.258065	18.986467	20.630583	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31126008	31126008	304	7	A	T	T	T	39	3	ADCYAP1R1	3	3
CDK13	8621	broad.mit.edu	37	7	40037171	40037171	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:40037171G>T	uc003thh.3	+	c.1950G>T	c.(1948-1950)CCG>CCT	p.P650P	CDK13_uc003thi.3_Silent_p.P650P|CDK13_uc011kbf.1_Silent_p.P36P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	650					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|ovary(1)|skin(1)	4										238				0.340741	133.236702	136.249529	46	89	KEEP	---	---	---	---	capture		Silent	SNP	40037171	40037171	3258	7	G	T	T	T	483	38	CDK13	1	1
INHBA	3624	broad.mit.edu	37	7	41729730	41729730	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41729730C>A	uc003thq.2	-	c.799G>T	c.(799-801)GGG>TGG	p.G267W	INHBA_uc003thr.2_Missense_Mutation_p.G267W	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	267					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway|regulation of gene-specific transcription from RNA polymerase II promoter	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity|transcription activator activity			lung(5)|ovary(1)	6										102	TSP Lung(11;0.080)			0.205882	16.015342	18.735643	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41729730	41729730	8042	7	C	A	A	A	286	22	INHBA	2	2
HECW1	23072	broad.mit.edu	37	7	43484068	43484068	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43484068G>A	uc003tid.1	+	c.1297G>A	c.(1297-1299)GTG>ATG	p.V433M	HECW1_uc011kbi.1_Missense_Mutation_p.V433M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.269231	15.090072	16.361315	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43484068	43484068	7325	7	G	A	A	A	624	48	HECW1	2	2
AEBP1	165	broad.mit.edu	37	7	44153462	44153462	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44153462C>A	uc003tkb.2	+	c.3079C>A	c.(3079-3081)CTG>ATG	p.L1027M	AEBP1_uc003tkc.3_Missense_Mutation_p.L602M|AEBP1_uc003tkd.2_Missense_Mutation_p.L277M	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1027	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|regulation of transcription, DNA-dependent|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.246154	38.467765	42.281941	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44153462	44153462	350	7	C	A	A	A	311	24	AEBP1	2	2
ADCY1	107	broad.mit.edu	37	7	45743059	45743059	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45743059C>T	uc003tne.3	+	c.2539C>T	c.(2539-2541)CAG>TAG	p.Q847*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	847	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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|central_nervous_system(1)	4					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.166667	7.684046	10.213162	4	20	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45743059	45743059	293	7	C	T	T	T	273	21	ADCY1	5	2
PKD1L1	168507	broad.mit.edu	37	7	47930295	47930295	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47930295G>T	uc003tny.1	-	c.2520C>A	c.(2518-2520)CAC>CAA	p.H840Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	840	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.155556	11.400695	16.497795	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47930295	47930295	12388	7	G	T	T	T	568	44	PKD1L1	2	2
FIGNL1	63979	broad.mit.edu	37	7	50514903	50514903	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50514903C>A	uc003tpc.2	-	c.83G>T	c.(82-84)GGA>GTA	p.G28V	FIGNL1_uc003tpb.2_5'UTR|FIGNL1_uc003tpd.2_Missense_Mutation_p.G28V|FIGNL1_uc003tpe.2_Missense_Mutation_p.G28V|FIGNL1_uc010kyy.2_Missense_Mutation_p.G28V	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	28					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)												0.265306	31.367622	33.797784	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50514903	50514903	6130	7	C	A	A	A	390	30	FIGNL1	2	2
POM121L12	285877	broad.mit.edu	37	7	53103830	53103830	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103830C>A	uc003tpz.2	+	c.466C>A	c.(466-468)CAG>AAG	p.Q156K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	156											0														0.269231	17.011613	18.26314	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53103830	53103830	12669	7	C	A	A	A	221	17	POM121L12	2	2
WBSCR17	64409	broad.mit.edu	37	7	71142239	71142239	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:71142239C>A	uc003tvy.2	+	c.1448C>A	c.(1447-1449)CCG>CAG	p.P483Q	WBSCR17_uc003tvz.2_Missense_Mutation_p.P182Q	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	483	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)												0.184211	79.508454	97.209084	35	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71142239	71142239	17836	7	C	A	A	A	299	23	WBSCR17	1	1
C1GALT1	56913	broad.mit.edu	37	7	7283162	7283162	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7283162G>T	uc010ktn.2	+	c.896G>T	c.(895-897)GGT>GTT	p.G299V	C1GALT1_uc003sra.2_Missense_Mutation_p.G299V	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	core 1 synthase,	299	Lumenal (Potential).				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)										0.153846	32.788785	46.181165	18	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7283162	7283162	2019	7	G	T	T	T	572	44	C1GALT1	2	2
MLXIPL	51085	broad.mit.edu	37	7	73008622	73008622	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73008622G>C	uc003tyn.1	-	c.2422C>G	c.(2422-2424)CTG>GTG	p.L808V	MLXIPL_uc003tyj.1_Missense_Mutation_p.L187V|MLXIPL_uc003tyk.1_Missense_Mutation_p.L787V|MLXIPL_uc003tyl.1_Missense_Mutation_p.L806V|MLXIPL_uc003tym.1_Missense_Mutation_p.L789V|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.L714V	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	808					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of glycolysis|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|transcription repressor activity			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)												0.126761	12.233906	21.885467	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73008622	73008622	10027	7	G	C	C	C	425	33	MLXIPL	3	3
MAGI2	9863	broad.mit.edu	37	7	78150938	78150938	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:78150938G>T	uc003ugx.2	-	c.563C>A	c.(562-564)CCG>CAG	p.P188Q	MAGI2_uc003ugy.2_Missense_Mutation_p.P188Q|MAGI2_uc011kgr.1_Missense_Mutation_p.P20Q|MAGI2_uc011kgs.1_Missense_Mutation_p.P25Q	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	188	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.159574	53.467401	74.215734	30	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78150938	78150938	9574	7	G	T	T	T	507	39	MAGI2	1	1
PCLO	27445	broad.mit.edu	37	7	82544170	82544170	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82544170C>A	uc003uhx.2	-	c.13132G>T	c.(13132-13134)GCT>TCT	p.A4378S	PCLO_uc003uhv.2_Missense_Mutation_p.A4378S|PCLO_uc010lec.2_Missense_Mutation_p.A1343S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4309					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														0.170732	14.613185	18.805913	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82544170	82544170	12003	7	C	A	A	A	364	28	PCLO	2	2
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82545171C>T	uc003uhx.2	-	c.12131G>A	c.(12130-12132)CGA>CAA	p.R4044Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.2_Missense_Mutation_p.R1009Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3975					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														0.411765	62.636458	62.98966	21	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82545171	82545171	12003	7	C	T	T	T	403	31	PCLO	1	1
SEMA3A	10371	broad.mit.edu	37	7	83739857	83739857	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83739857G>C	uc003uhz.2	-	c.382C>G	c.(382-384)CAC>GAC	p.H128D		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	128	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.16092	30.119312	39.617864	14	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83739857	83739857	14510	7	G	C	C	C	585	45	SEMA3A	3	3
SEMA3D	223117	broad.mit.edu	37	7	84642099	84642099	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84642099G>T	uc003uic.2	-	c.1767C>A	c.(1765-1767)GAC>GAA	p.D589E	SEMA3D_uc010led.2_Missense_Mutation_p.D589E|SEMA3D_uc003uib.2_Missense_Mutation_p.D228E	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	589					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.12	11.945022	22.549665	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84642099	84642099	14513	7	G	T	T	T	620	48	SEMA3D	2	2
C7orf63	79846	broad.mit.edu	37	7	89874756	89874756	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89874756C>G	uc010lep.2	+	c.18C>G	c.(16-18)GCC>GCG	p.A6A	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Silent_p.A6A|C7orf63_uc010leo.2_Silent_p.A6A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	6							binding			ovary(1)	1														0.396825	65.446036	66.036932	25	38	KEEP	---	---	---	---	capture		Silent	SNP	89874756	89874756	2516	7	C	G	G	G	288	23	C7orf63	3	3
ANKIB1	54467	broad.mit.edu	37	7	92015853	92015853	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92015853G>A	uc003ulw.2	+	c.1648G>A	c.(1648-1650)GAA>AAA	p.E550K	ANKIB1_uc010lew.1_5'UTR	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	550							protein binding|zinc ion binding				0	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)											0.25	7.018411	7.700816	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92015853	92015853	633	7	G	A	A	A	585	45	ANKIB1	2	2
C7orf64	84060	broad.mit.edu	37	7	92161862	92161862	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92161862A>T	uc003ulz.2	+	c.447A>T	c.(445-447)AAA>AAT	p.K149N	C7orf64_uc011khu.1_Missense_Mutation_p.K149N|C7orf64_uc003uma.2_Missense_Mutation_p.K149N	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	149							nucleotide binding			ovary(2)	2														0.461538	69.7671	69.836375	24	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92161862	92161862	2517	7	A	T	T	T	37	3	C7orf64	3	3
PPP1R9A	55607	broad.mit.edu	37	7	94915575	94915575	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:94915575G>T	uc010lfj.2	+	c.3667G>T	c.(3667-3669)GGC>TGC	p.G1223C	PPP1R9A_uc003unp.2_Missense_Mutation_p.G939C|PPP1R9A_uc011kif.1_Missense_Mutation_p.G1145C|PPP1R9A_uc003unq.2_Missense_Mutation_p.G1163C|PPP1R9A_uc011kig.1_Missense_Mutation_p.G939C|PPP1R9A_uc003unr.2_Missense_Mutation_p.G236C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	939	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|skin(1)	3	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)											0.265625	45.956049	49.126492	17	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94915575	94915575	12814	7	G	T	T	T	507	39	PPP1R9A	1	1
DYNC1I1	1780	broad.mit.edu	37	7	95442509	95442509	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95442509G>T	uc003uoc.3	+	c.225G>T	c.(223-225)GTG>GTT	p.V75V	DYNC1I1_uc003uod.3_Intron|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Silent_p.V75V|DYNC1I1_uc010lfl.2_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	75	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)											0.134752	26.048643	44.334639	19	122	KEEP	---	---	---	---	capture		Silent	SNP	95442509	95442509	5028	7	G	T	T	T	587	46	DYNC1I1	2	2
DYNC1I1	1780	broad.mit.edu	37	7	95662087	95662087	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95662087C>T	uc003uoc.3	+	c.1276C>T	c.(1276-1278)CCA>TCA	p.P426S	DYNC1I1_uc003uod.3_Missense_Mutation_p.P409S|DYNC1I1_uc003uob.2_Missense_Mutation_p.P389S|DYNC1I1_uc003uoe.3_Missense_Mutation_p.P406S|DYNC1I1_uc010lfl.2_Missense_Mutation_p.P415S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	426	WD 3.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)											0.109589	6.149807	17.182443	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95662087	95662087	5028	7	C	T	T	T	390	30	DYNC1I1	2	2
ZKSCAN5	23660	broad.mit.edu	37	7	99117525	99117525	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99117525G>T	uc003uqv.2	+	c.629G>T	c.(628-630)GGG>GTG	p.G210V	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.G210V|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.G210V|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	210					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)													0.15625	17.704771	24.92976	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99117525	99117525	18281	7	G	T	T	T	559	43	ZKSCAN5	2	2
OR2AE1	81392	broad.mit.edu	37	7	99474527	99474527	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99474527G>A	uc003usc.1	-	c.130C>T	c.(130-132)CTC>TTC	p.L44F		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)													0.390244	50.994508	51.425882	16	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99474527	99474527	11389	7	G	A	A	A	455	35	OR2AE1	2	2
SNX31	169166	broad.mit.edu	37	8	101589249	101589249	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101589249G>A	uc003yjr.2	-	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*	SNX31_uc011lha.1_Nonsense_Mutation_p.Q204*|SNX31_uc011lhb.1_Nonsense_Mutation_p.Q310*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	409					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)											0.212963	45.924632	54.199708	23	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101589249	101589249	15401	8	G	A	A	A	611	47	SNX31	5	2
RIMS2	9699	broad.mit.edu	37	8	104898239	104898239	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104898239G>C	uc003yls.2	+	c.746G>C	c.(745-747)CGG>CCG	p.R249P	RIMS2_uc003ylp.2_Missense_Mutation_p.R471P|RIMS2_uc003ylw.2_Missense_Mutation_p.R279P|RIMS2_uc003ylq.2_Missense_Mutation_p.R279P|RIMS2_uc003ylr.2_Missense_Mutation_p.R279P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	502					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.125	4.818797	10.257327	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104898239	104898239	13845	8	G	C	C	C	507	39	RIMS2	3	3
RIMS2	9699	broad.mit.edu	37	8	105001583	105001583	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105001583A>G	uc003yls.2	+	c.2312A>G	c.(2311-2313)TAT>TGT	p.Y771C	RIMS2_uc003ylp.2_Missense_Mutation_p.Y993C|RIMS2_uc003ylw.2_Missense_Mutation_p.Y785C|RIMS2_uc003ylq.2_Missense_Mutation_p.Y785C|RIMS2_uc003ylr.2_Missense_Mutation_p.Y832C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1055					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.188235	37.02796	44.797107	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105001583	105001583	13845	8	A	G	G	G	208	16	RIMS2	4	4
TM7SF4	81501	broad.mit.edu	37	8	105361010	105361010	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105361010A>C	uc003ylx.1	+	c.230A>C	c.(229-231)CAT>CCT	p.H77P		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	77	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.150685	23.381838	31.912492	11	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105361010	105361010	16506	8	A	C	C	C	104	8	TM7SF4	4	4
TM7SF4	81501	broad.mit.edu	37	8	105367361	105367361	+	Nonsense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105367361C>G	uc003ylx.1	+	c.1286C>G	c.(1285-1287)TCA>TGA	p.S429*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	429	Cytoplasmic.				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.188679	24.231706	29.028325	10	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105367361	105367361	16506	8	C	G	G	G	377	29	TM7SF4	5	3
DPYS	1807	broad.mit.edu	37	8	105440265	105440265	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105440265G>T	uc003yly.3	-	c.1035C>A	c.(1033-1035)ATC>ATA	p.I345I		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	345					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.197531	31.647351	38.562728	16	65	KEEP	---	---	---	---	capture		Silent	SNP	105440265	105440265	4930	8	G	T	T	T	525	41	DPYS	2	2
C8orf74	203076	broad.mit.edu	37	8	10555378	10555378	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10555378C>G	uc003wtd.1	+	c.511C>G	c.(511-513)CTG>GTG	p.L171V	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	171											0				COAD - Colon adenocarcinoma(149;0.0811)										0.125	4.575752	8.976429	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10555378	10555378	2548	8	C	G	G	G	259	20	C8orf74	3	3
ANGPT1	284	broad.mit.edu	37	8	108315513	108315513	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108315513A>T	uc003ymn.2	-	c.891T>A	c.(889-891)AGT>AGA	p.S297R	ANGPT1_uc011lhv.1_Missense_Mutation_p.S97R|ANGPT1_uc003ymo.2_Missense_Mutation_p.S296R|ANGPT1_uc003ymp.3_Missense_Mutation_p.S96R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	297	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.309859	59.659203	61.987082	22	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108315513	108315513	613	8	A	T	T	T	76	6	ANGPT1	3	3
TMEM74	157753	broad.mit.edu	37	8	109796454	109796454	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:109796454C>A	uc003ymy.1	-	c.874G>T	c.(874-876)GAA>TAA	p.E292*	TMEM74_uc003ymx.2_Intron	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	transmembrane protein 74	292					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)|lung(1)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)							48				0.135593	10.766361	18.353431	8	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	109796454	109796454	16741	8	C	A	A	A	390	30	TMEM74	5	2
PKHD1L1	93035	broad.mit.edu	37	8	110478983	110478983	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110478983C>A	uc003yne.2	+	c.8590C>A	c.(8590-8592)CTT>ATT	p.L2864I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2864	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.238095	12.16361	13.480049	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110478983	110478983	12397	8	C	A	A	A	416	32	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113317142	113317142	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113317142C>A	uc003ynu.2	-	c.8074G>T	c.(8074-8076)GTT>TTT	p.V2692F	CSMD3_uc003yns.2_Missense_Mutation_p.V1894F|CSMD3_uc003ynt.2_Missense_Mutation_p.V2652F|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2692	Extracellular (Potential).|Sushi 16.					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)			0.230769	15.138401	16.864108	6	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113317142	113317142	4087	8	C	A	A	A	221	17	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113353818	113353818	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113353818C>A	uc003ynu.2	-	c.6540G>T	c.(6538-6540)CGG>CGT	p.R2180R	CSMD3_uc003yns.2_Silent_p.R1382R|CSMD3_uc003ynt.2_Silent_p.R2140R|CSMD3_uc011lhx.1_Silent_p.R2076R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2180	Extracellular (Potential).|CUB 12.					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)			0.267857	35.321337	38.034909	15	41	KEEP	---	---	---	---	capture		Silent	SNP	113353818	113353818	4087	8	C	A	A	A	327	26	CSMD3	2	2
UTP23	84294	broad.mit.edu	37	8	117783872	117783872	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:117783872G>T	uc003yoc.2	+	c.541G>T	c.(541-543)GAA>TAA	p.E181*		NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component,	181					rRNA processing	nucleolus					0														0.181818	16.60548	21.855787	10	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117783872	117783872	17665	8	G	T	T	T	533	41	UTP23	5	2
ENPP2	5168	broad.mit.edu	37	8	120612922	120612922	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120612922G>T	uc003yos.1	-	c.968C>A	c.(967-969)CCT>CAT	p.P323H	ENPP2_uc003yot.1_Missense_Mutation_p.P323H|ENPP2_uc010mdd.1_Missense_Mutation_p.P323H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	autotaxin isoform 1 preproprotein	323					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)	6	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			Melanoma(20;305 879 2501 4818 31020)								0.125	8.740838	15.314192	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120612922	120612922	5323	8	G	T	T	T	455	35	ENPP2	2	2
ZNF572	137209	broad.mit.edu	37	8	125988958	125988958	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125988958C>T	uc003yrr.2	+	c.448C>T	c.(448-450)CAC>TAC	p.H150Y		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	150	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.169811	18.240873	23.709497	9	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125988958	125988958	18599	8	C	T	T	T	377	29	ZNF572	2	2
C8orf79	57604	broad.mit.edu	37	8	12878740	12878740	+	Silent	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:12878740A>C	uc010lsq.2	+	c.552A>C	c.(550-552)CCA>CCC	p.P184P	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.P97P|C8orf79_uc010lsr.2_Silent_p.P58P	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	184							methyltransferase activity				0														0.123288	12.434118	22.563531	9	64	KEEP	---	---	---	---	capture		Silent	SNP	12878740	12878740	2550	8	A	C	C	C	80	7	C8orf79	4	4
KCNQ3	3786	broad.mit.edu	37	8	133192464	133192464	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133192464C>A	uc003ytj.2	-	c.717G>T	c.(715-717)CGG>CGT	p.R239R	KCNQ3_uc010mdt.2_Silent_p.R239R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	239	Helical; Voltage-sensor; Name=Segment S4; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.246753	42.697709	47.187142	19	58	KEEP	---	---	---	---	capture		Silent	SNP	133192464	133192464	8389	8	C	A	A	A	379	30	KCNQ3	2	2
DLC1	10395	broad.mit.edu	37	8	13357316	13357316	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:13357316C>A	uc003wwm.2	-	c.265G>T	c.(265-267)GAC>TAC	p.D89Y	DLC1_uc003wwn.2_Missense_Mutation_p.D89Y|DLC1_uc011kxy.1_Missense_Mutation_p.D89Y	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	89					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7									p.D89N(AN3CA-Tumor)	739				0.172549	83.851169	109.680988	44	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13357316	13357316	4730	8	C	A	A	A	377	29	DLC1	2	2
TG	7038	broad.mit.edu	37	8	133881998	133881999	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133881998_133881999CC>AG	uc003ytw.2	+	c.201_202CC>AG	c.(199-204)GGCCGC>GGAGGC	p.R68G		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	68	Thyroglobulin type-1 1.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.104167	4.437858	11.922861	5	43	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	133881998	133881999	16341	8	CC	AG	AG	AG	327	26	TG	2	2
ZFAT	57623	broad.mit.edu	37	8	135613823	135613823	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:135613823G>A	uc003yup.2	-	c.2139C>T	c.(2137-2139)ACC>ACT	p.T713T	ZFAT_uc003yun.2_Silent_p.T701T|ZFAT_uc003yuo.2_Silent_p.T701T|ZFAT_uc010meh.2_Silent_p.T701T|ZFAT_uc010mei.2_Non-coding_Transcript|ZFAT_uc003yuq.2_Silent_p.T701T|ZFAT_uc010mej.2_Silent_p.T651T|ZFAT_uc003yur.2_Silent_p.T701T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)											0.282051	60.52303	63.848361	22	56	KEEP	---	---	---	---	capture		Silent	SNP	135613823	135613823	18220	8	G	A	A	A	496	39	ZFAT	1	1
FAM135B	51059	broad.mit.edu	37	8	139163634	139163634	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139163634C>A	uc003yuy.2	-	c.3084G>T	c.(3082-3084)GTG>GTT	p.V1028V	FAM135B_uc003yux.2_Silent_p.V929V|FAM135B_uc003yuz.2_Non-coding_Transcript|FAM135B_uc003yva.2_Silent_p.V590V|FAM135B_uc003yvb.2_Silent_p.V590V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1028										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.137931	5.780429	9.45763	4	25	KEEP	---	---	---	---	capture		Silent	SNP	139163634	139163634	5646	8	C	A	A	A	262	21	FAM135B	2	2
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139255187C>T	uc003yuy.2	-	c.667G>A	c.(667-669)GAG>AAG	p.E223K	FAM135B_uc003yux.2_Missense_Mutation_p.E124K|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	223										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.135135	8.349588	13.123156	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139255187	139255187	5646	8	C	T	T	T	416	32	FAM135B	2	2
EIF2C2	27161	broad.mit.edu	37	8	141567304	141567304	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141567304C>T	uc003yvn.2	-	c.910G>A	c.(910-912)GTG>ATG	p.V304M	EIF2C2_uc010men.2_Missense_Mutation_p.V227M|EIF2C2_uc010meo.2_Missense_Mutation_p.V304M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	304	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-microRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)											0.169231	21.687189	28.417003	11	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141567304	141567304	5195	8	C	T	T	T	234	18	EIF2C2	2	2
PTK2	5747	broad.mit.edu	37	8	141754835	141754835	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141754835C>A	uc003yvt.2	-	c.1616G>T	c.(1615-1617)AGT>ATT	p.S539I	PTK2_uc003yvo.2_Missense_Mutation_p.S145I|PTK2_uc011ljq.1_Missense_Mutation_p.S212I|PTK2_uc003yvp.2_Missense_Mutation_p.S185I|PTK2_uc003yvq.2_Missense_Mutation_p.S43I|PTK2_uc003yvr.2_Missense_Mutation_p.S457I|PTK2_uc003yvs.2_Missense_Mutation_p.S517I|PTK2_uc003yvu.2_Missense_Mutation_p.S517I|PTK2_uc003yvv.2_Missense_Mutation_p.S417I|PTK2_uc011ljr.1_Missense_Mutation_p.S517I	NM_005607	NP_005598	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform b	517	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)							917				0.183333	24.419215	30.043147	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141754835	141754835	13217	8	C	A	A	A	260	20	PTK2	2	2
EPPK1	83481	broad.mit.edu	37	8	144944968	144944968	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144944968C>A	uc003zaa.1	-	c.2454G>T	c.(2452-2454)CTG>CTT	p.L818L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	818						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.227273	9.626358	11.172778	5	17	KEEP	---	---	---	---	capture		Silent	SNP	144944968	144944968	5383	8	C	A	A	A	314	25	EPPK1	2	2
PARP10	84875	broad.mit.edu	37	8	145060242	145060242	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145060242G>C	uc011lku.1	-	c.198C>G	c.(196-198)CTC>CTG	p.L66L	PARP10_uc003zak.3_5'Flank|PARP10_uc003zal.3_Silent_p.L54L|PARP10_uc011lkv.1_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.L54L|PARP10_uc010mfn.1_Silent_p.L54L|PARP10_uc010mfo.1_Intron	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	54						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(1)|pancreas(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.170213	15.081206	19.915233	8	39	KEEP	---	---	---	---	capture		Silent	SNP	145060242	145060242	11872	8	G	C	C	C	574	45	PARP10	3	3
SPATC1	375686	broad.mit.edu	37	8	145101812	145101812	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145101812C>A	uc011lkw.1	+	c.1731C>A	c.(1729-1731)CTC>CTA	p.L577L	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	577										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.207547	23.601525	27.80081	11	42	KEEP	---	---	---	---	capture		Silent	SNP	145101812	145101812	15527	8	C	A	A	A	366	29	SPATC1	2	2
ZNF250	58500	broad.mit.edu	37	8	146107494	146107494	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146107494C>T	uc003zeq.3	-	c.1089G>A	c.(1087-1089)GGG>GGA	p.G363G	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.G358G|ZNF250_uc010mgg.2_Silent_p.G358G	NM_021061	NP_066405	P15622	ZN250_HUMAN	zinc finger protein 250 isoform a	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		NSCLC(16;520 556 24096 40084 43446)								0.190476	8.086329	9.968791	4	17	KEEP	---	---	---	---	capture		Silent	SNP	146107494	146107494	18386	8	C	T	T	T	275	22	ZNF250	2	2
MYOM2	9172	broad.mit.edu	37	8	2044234	2044234	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2044234A>T	uc003wpx.3	+	c.2273A>T	c.(2272-2274)CAC>CTC	p.H758L	MYOM2_uc011kwi.1_Missense_Mutation_p.H183L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	758	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)	5		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)										0.139535	6.117946	11.545177	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2044234	2044234	10487	8	A	T	T	T	78	6	MYOM2	3	3
BMP1	649	broad.mit.edu	37	8	22065020	22065020	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22065020C>T	uc003xbg.2	+	c.2566C>T	c.(2566-2568)CAC>TAC	p.H856Y	BMP1_uc011kzc.1_Missense_Mutation_p.H605Y|BMP1_uc003xbh.2_Non-coding_Transcript|BMP1_uc003xbi.2_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	856	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)										0.289474	23.991902	25.514533	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22065020	22065020	1481	8	C	T	T	T	273	21	BMP1	2	2
NEFM	4741	broad.mit.edu	37	8	24774647	24774647	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24774647C>T	uc003xed.3	+	c.1279C>T	c.(1279-1281)CGA>TGA	p.R427*	NEFM_uc011lac.1_Nonsense_Mutation_p.R427*|NEFM_uc010lue.2_Nonsense_Mutation_p.R51*	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	427	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.210526	18.285648	21.227288	8	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24774647	24774647	10715	8	C	T	T	T	295	23	NEFM	5	1
EBF2	64641	broad.mit.edu	37	8	25715978	25715978	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25715978G>C	uc003xes.1	-	c.1385C>G	c.(1384-1386)TCT>TGT	p.S462C	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	462	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.170213	18.783102	23.608352	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25715978	25715978	5067	8	G	C	C	C	429	33	EBF2	3	3
FZD3	7976	broad.mit.edu	37	8	28360629	28360629	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28360629G>T	uc003xgx.2	+	c.99G>T	c.(97-99)TTG>TTT	p.L33F	FZD3_uc010lvb.2_Missense_Mutation_p.L33F	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	33	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)										0.164706	25.495358	34.568797	14	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28360629	28360629	6382	8	G	T	T	T	581	45	FZD3	2	2
CSMD1	64478	broad.mit.edu	37	8	2944759	2944759	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2944759T>C	uc011kwk.1	-	c.7337A>G	c.(7336-7338)AAC>AGC	p.N2446S	CSMD1_uc011kwj.1_Missense_Mutation_p.N1775S|CSMD1_uc010lrg.2_Missense_Mutation_p.N514S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2446	Sushi 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.246154	45.190042	48.988497	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2944759	2944759	4085	8	T	C	C	C	780	60	CSMD1	4	4
NRG1	3084	broad.mit.edu	37	8	32585597	32585597	+	Splice_Site_SNP	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:32585597G>A	uc003xiu.2	+	c.632_splice	c.e6+1	p.K211_splice	NRG1_uc003xip.2_Splice_Site_SNP_p.K392_splice|NRG1_uc003xir.2_Silent_p.K211K|NRG1_uc010lvl.2_Silent_p.K194K|NRG1_uc010lvm.2_Silent_p.K177K|NRG1_uc010lvn.2_Splice_Site_SNP_p.K177_splice|NRG1_uc003xis.2_Splice_Site_SNP_p.K211_splice|NRG1_uc011lbf.1_Splice_Site_SNP_p.K211_splice|NRG1_uc010lvo.2_Splice_Site_SNP_p.K211_splice|NRG1_uc003xiw.2_Splice_Site_SNP_p.K211_splice|NRG1_uc003xit.2_Splice_Site_SNP_p.K211_splice|NRG1_uc003xiv.2_Splice_Site_SNP_p.K211_splice|NRG1_uc010lvr.2_Splice_Site_SNP|NRG1_uc010lvs.2_Splice_Site_SNP|NRG1_uc010lvp.2_Splice_Site_SNP_p.K160_splice|NRG1_uc010lvq.2_Splice_Site_SNP_p.K143_splice|NRG1_uc003xix.2_Splice_Site_SNP_p.K101_splice|NRG1_uc003xiy.2_Splice_Site_SNP_p.K266_splice|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Splice_Site_SNP_p.K57_splice|NRG1_uc011lbh.1_Splice_Site_SNP_p.K57_splice|NRG1_uc003xiz.1_Splice_Site_SNP|NRG1_uc003xja.2_Splice_Site_SNP_p.K14_splice	NM_013956	NP_039250			neuregulin 1 isoform HRG-beta1						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)										0.235294	29.075973	32.343156	12	39	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	32585597	32585597	11052	8	G	A	A	A	468	36	NRG1	5	2
NRG1	3084	broad.mit.edu	37	8	32617782	32617782	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:32617782G>A	uc003xiu.2	+	c.1141G>A	c.(1141-1143)GTA>ATA	p.V381I	NRG1_uc011lbf.1_Missense_Mutation_p.V373I|NRG1_uc010lvo.2_Missense_Mutation_p.V373I|NRG1_uc003xiw.2_Missense_Mutation_p.V373I|NRG1_uc003xit.2_Missense_Mutation_p.V376I|NRG1_uc003xiv.2_Missense_Mutation_p.V376I|NRG1_uc010lvr.2_Missense_Mutation_p.V118I|NRG1_uc010lvs.2_Missense_Mutation_p.V118I|NRG1_uc010lvp.2_Missense_Mutation_p.V330I|NRG1_uc010lvq.2_Missense_Mutation_p.V313I|NRG1_uc011lbg.1_Missense_Mutation_p.V222I|NRG1_uc011lbh.1_Missense_Mutation_p.V219I|NRG1_uc003xja.2_Missense_Mutation_p.V187I	NM_013956	NP_039250	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-beta1	376	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)										0.205128	51.437064	60.886189	24	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32617782	32617782	11052	8	G	A	A	A	520	40	NRG1	1	1
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36767015C>G	uc010lvw.2	+	c.2293C>G	c.(2293-2295)CGA>GGA	p.R765G	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.106557	16.748888	35.439202	13	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36767015	36767015	8398	8	C	G	G	G	347	27	KCNU1	3	3
GOT1L1	137362	broad.mit.edu	37	8	37793322	37793322	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37793322G>C	uc011lbj.1	-	c.829C>G	c.(829-831)CAG>GAG	p.Q277E		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	277					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)											0.211538	25.813009	29.801814	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37793322	37793322	6853	8	G	C	C	C	611	47	GOT1L1	3	3
ADAM9	8754	broad.mit.edu	37	8	38912024	38912024	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38912024G>T	uc003xmr.2	+	c.1327G>T	c.(1327-1329)GAA>TAA	p.E443*	ADAM9_uc011lcf.1_Non-coding_Transcript|ADAM9_uc011lcg.1_Non-coding_Transcript|ADAM9_uc010lwr.2_Non-coding_Transcript|ADAM9_uc003xms.2_5'Flank	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	443	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|integrin-mediated signaling pathway|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway|visual perception	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)											0.103448	5.419857	14.489613	6	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38912024	38912024	254	8	G	T	T	T	481	37	ADAM9	5	1
ANK1	286	broad.mit.edu	37	8	41577265	41577265	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41577265G>T	uc003xom.2	-	c.1120C>A	c.(1120-1122)CCA>ACA	p.P374T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.P341T|ANK1_uc003xoj.2_Missense_Mutation_p.P341T|ANK1_uc003xok.2_Missense_Mutation_p.P341T|ANK1_uc003xol.2_Missense_Mutation_p.P341T	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	341	ANK 10.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)|breast(1)	8	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)											0.130719	22.181979	42.530469	20	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41577265	41577265	623	8	G	T	T	T	559	43	ANK1	2	2
POTEA	340441	broad.mit.edu	37	8	43211911	43211911	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43211911G>T	uc003xpz.1	+	c.1370G>T	c.(1369-1371)AGC>ATC	p.S457I	POTEA_uc003xqa.1_Missense_Mutation_p.S411I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	457										ovary(1)	1														0.138462	11.743147	19.95539	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43211911	43211911	12690	8	G	T	T	T	442	34	POTEA	2	2
SNTG1	54212	broad.mit.edu	37	8	51621488	51621488	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51621488C>A	uc010lxy.1	+	c.1234C>A	c.(1234-1236)CTC>ATC	p.L412I	SNTG1_uc003xqs.1_Missense_Mutation_p.L412I|SNTG1_uc010lxz.1_Missense_Mutation_p.L412I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	412					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.238636	53.732129	59.221129	21	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51621488	51621488	15374	8	C	A	A	A	260	20	SNTG1	2	2
ST18	9705	broad.mit.edu	37	8	53079446	53079446	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53079446C>T	uc003xqz.2	-	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S	ST18_uc011ldq.1_Silent_p.S37S|ST18_uc011ldr.1_Silent_p.S355S|ST18_uc011lds.1_Silent_p.S295S|ST18_uc003xra.2_Silent_p.S390S|ST18_uc003xrb.2_Silent_p.S390S	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	390	C2HC-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.236559	57.456216	63.319476	22	71	KEEP	---	---	---	---	capture		Silent	SNP	53079446	53079446	15730	8	C	T	T	T	288	23	ST18	1	1
ATP6V1H	51606	broad.mit.edu	37	8	54714394	54714394	+	Nonsense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:54714394G>C	uc003xrl.2	-	c.642C>G	c.(640-642)TAC>TAG	p.Y214*	ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.Y174*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.Y214*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.Y196*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.Y134*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.Y150*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	214					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)											0.28	21.314137	22.402091	7	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54714394	54714394	1208	8	G	C	C	C	568	44	ATP6V1H	5	3
RP1	6101	broad.mit.edu	37	8	55542122	55542122	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55542122A>G	uc003xsd.1	+	c.5680A>G	c.(5680-5682)AGT>GGT	p.S1894G	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1894					cell projection organization|intracellular signal transduction|phototransduction, visible light|visual perception	cilium axoneme|cytoplasm|microtubule|photoreceptor connecting cilium|photoreceptor outer segment				ovary(4)|pancreas(1)	5		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.148649	15.557274	24.374012	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55542122	55542122	14011	8	A	G	G	G	91	7	RP1	4	4
XKR4	114786	broad.mit.edu	37	8	56436481	56436481	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:56436481T>A	uc003xsf.2	+	c.1648T>A	c.(1648-1650)TCC>ACC	p.S550T		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	550						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)											0.214286	16.44524	19.623529	9	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56436481	56436481	18014	8	T	A	A	A	702	54	XKR4	3	3
TGS1	96764	broad.mit.edu	37	8	56723451	56723451	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:56723451G>A	uc003xsj.3	+	c.2155G>A	c.(2155-2157)GAT>AAT	p.D719N	TGS1_uc010lyh.2_Intron	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	719	Sufficient for catalytic activity.	S-adenosyl-L-methionine (By similarity).		D->A: Loss of catalytic activity.	cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|ribonucleoprotein complex import into nucleus|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol|small nuclear ribonucleoprotein complex	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			Esophageal Squamous(34;275 823 4842 34837 48447)				978				0.216216	49.349145	57.605352	24	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56723451	56723451	16365	8	G	A	A	A	585	45	TGS1	2	2
C8orf46	254778	broad.mit.edu	37	8	67408724	67408724	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67408724G>T	uc003xwg.2	+	c.123G>T	c.(121-123)AAG>AAT	p.K41N	C8orf46_uc003xwh.2_Non-coding_Transcript|C8orf46_uc011let.1_Missense_Mutation_p.K41N	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	41											0			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)											0.117647	6.618019	13.945023	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67408724	67408724	2541	8	G	T	T	T	425	33	C8orf46	2	2
TRPA1	8989	broad.mit.edu	37	8	72966087	72966087	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72966087C>A	uc003xza.2	-	c.1545G>T	c.(1543-1545)TGG>TGT	p.W515C		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	515	ANK 13.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.230769	7.318798	8.181932	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72966087	72966087	17128	8	C	A	A	A	390	30	TRPA1	2	2
TRPA1	8989	broad.mit.edu	37	8	72967971	72967971	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72967971G>A	uc003xza.2	-	c.1314C>T	c.(1312-1314)TCC>TCT	p.S438S		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	438	ANK 10.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.166667	12.12874	15.920072	6	30	KEEP	---	---	---	---	capture		Silent	SNP	72967971	72967971	17128	8	G	A	A	A	600	47	TRPA1	2	2
CRISPLD1	83690	broad.mit.edu	37	8	75898355	75898355	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75898355G>T	uc003yan.2	+	c.133G>T	c.(133-135)GAG>TAG	p.E45*		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	45						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)											0.183333	22.006278	27.640828	11	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75898355	75898355	4021	8	G	T	T	T	585	45	CRISPLD1	5	2
ZFHX4	79776	broad.mit.edu	37	8	77617295	77617295	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617295G>T	uc003yav.2	+	c.972G>T	c.(970-972)GGG>GGT	p.G324G	ZFHX4_uc003yat.1_Silent_p.G324G|ZFHX4_uc003yau.1_Silent_p.G324G|ZFHX4_uc003yaw.1_Silent_p.G324G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	324					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.152542	14.453153	21.257766	9	50	KEEP	---	---	---	---	capture		Silent	SNP	77617295	77617295	18223	8	G	T	T	T	522	41	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77618422	77618422	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77618422G>T	uc003yav.2	+	c.2099G>T	c.(2098-2100)CGT>CTT	p.R700L	ZFHX4_uc003yat.1_Missense_Mutation_p.R700L|ZFHX4_uc003yau.1_Missense_Mutation_p.R700L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R700L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	700	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.178571	12.160894	14.881025	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77618422	77618422	18223	8	G	T	T	T	520	40	ZFHX4	1	1
ZFHX4	79776	broad.mit.edu	37	8	77764421	77764421	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764421G>T	uc003yav.2	+	c.5129G>T	c.(5128-5130)GGC>GTC	p.G1710V	ZFHX4_uc003yau.1_Missense_Mutation_p.G1755V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1710V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1710	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.193548	13.932899	16.649027	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764421	77764421	18223	8	G	T	T	T	546	42	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767836	77767836	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767836T>A	uc003yav.2	+	c.8544T>A	c.(8542-8544)GAT>GAA	p.D2848E	ZFHX4_uc003yau.1_Missense_Mutation_p.D2893E|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2848E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2848					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.222222	24.02965	27.222376	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767836	77767836	18223	8	T	A	A	A	660	51	ZFHX4	3	3
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86163132C>T	uc003ydg.2	+	c.201C>T	c.(199-201)TTC>TTT	p.F67F	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0														0.152941	43.802834	63.349068	26	144	KEEP	---	---	---	---	capture		Silent	SNP	86163132	86163132	2630	8	C	T	T	T	376	29	CA13	2	2
CDH17	1015	broad.mit.edu	37	8	95201473	95201473	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95201473A>T	uc003ygh.2	-	c.92T>A	c.(91-93)CTG>CAG	p.L31Q	CDH17_uc011lgo.1_Missense_Mutation_p.L31Q|CDH17_uc011lgp.1_Missense_Mutation_p.L31Q	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	31	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.21875	35.615121	40.279807	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95201473	95201473	3231	8	A	T	T	T	91	7	CDH17	3	3
INTS8	55656	broad.mit.edu	37	8	95862156	95862156	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95862156G>C	uc003yhb.2	+	c.1344G>C	c.(1342-1344)CTG>CTC	p.L448L	INTS8_uc003yha.1_Silent_p.L448L|INTS8_uc011lgq.1_Non-coding_Transcript|INTS8_uc011lgr.1_Non-coding_Transcript|INTS8_uc010mba.2_Silent_p.L275L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	448					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)													0.163934	19.023867	25.559231	10	51	KEEP	---	---	---	---	capture		Silent	SNP	95862156	95862156	8085	8	G	C	C	C	600	47	INTS8	3	3
UQCRB	7381	broad.mit.edu	37	8	97247745	97247745	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97247745T>C	uc003yhq.3	-	c.14A>G	c.(13-15)CAG>CGG	p.Q5R	UQCRB_uc011lgt.1_Non-coding_Transcript|UQCRB_uc010mbc.2_Non-coding_Transcript	NM_006294	NP_006285	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding	5					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			ovary(1)	1	Breast(36;5.16e-05)													0.22807	23.754344	27.731115	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97247745	97247745	17579	8	T	C	C	C	715	55	UQCRB	4	4
TSPYL5	85453	broad.mit.edu	37	8	98288962	98288962	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98288962C>G	uc003yhy.2	-	c.1111G>C	c.(1111-1113)GAA>CAA	p.E371Q		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	371					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)													0.19209	82.806256	98.435076	34	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98288962	98288962	17215	8	C	G	G	G	403	31	TSPYL5	3	3
MATN2	4147	broad.mit.edu	37	8	98954084	98954084	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98954084C>T	uc003yic.2	+	c.792C>T	c.(790-792)TGC>TGT	p.C264C	MATN2_uc003yib.1_Silent_p.C264C|MATN2_uc010mbh.1_Silent_p.C264C|MATN2_uc003yid.2_Silent_p.C264C|MATN2_uc003yie.1_Silent_p.C264C|MATN2_uc010mbi.1_Silent_p.C138C	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	264	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)											0.176471	5.716872	7.392321	3	14	KEEP	---	---	---	---	capture		Silent	SNP	98954084	98954084	9718	8	C	T	T	T	324	25	MATN2	2	2
COL15A1	1306	broad.mit.edu	37	9	101806849	101806849	+	Splice_Site_SNP	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101806849G>A	uc004azb.1	+	c.2575_splice	c.e25-1	p.G859_splice		NM_001855	NP_001846			alpha 1 type XV collagen precursor						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)												0.103448	5.818094	14.890139	6	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101806849	101806849	3810	9	G	A	A	A	455	35	COL15A1	5	2
GRIN3A	116443	broad.mit.edu	37	9	104433159	104433159	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104433159T>A	uc004bbp.1	-	c.1535A>T	c.(1534-1536)AAG>ATG	p.K512M	GRIN3A_uc004bbq.1_Missense_Mutation_p.K512M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	512	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|central_nervous_system(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)					27				0.186813	36.422575	44.783221	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104433159	104433159	7062	9	T	A	A	A	728	56	GRIN3A	3	3
DMRT2	10655	broad.mit.edu	37	9	1056563	1056563	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:1056563G>A	uc003zha.2	+	c.976G>A	c.(976-978)GTC>ATC	p.V326I	DMRT2_uc003zgx.3_Missense_Mutation_p.V93I|DMRT2_uc010mgz.2_Missense_Mutation_p.V93I|DMRT2_uc003zgy.3_Missense_Mutation_p.V170I|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.V326I	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	326					male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)										0.263158	33.052682	35.987904	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1056563	1056563	4766	9	G	A	A	A	624	48	DMRT2	2	2
CYLC2	1539	broad.mit.edu	37	9	105767801	105767801	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:105767801C>A	uc004bbs.2	+	c.888C>A	c.(886-888)GCC>GCA	p.A296A		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	296	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	10.492008	11.401201	4	12	KEEP	---	---	---	---	capture		Silent	SNP	105767801	105767801	4307	9	C	A	A	A	262	21	CYLC2	2	2
OR13C5	138799	broad.mit.edu	37	9	107360953	107360953	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107360953C>A	uc011lvp.1	-	c.742G>T	c.(742-744)GTG>TTG	p.V248L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3														0.157895	22.768365	31.236538	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107360953	107360953	11343	9	C	A	A	A	234	18	OR13C5	2	2
OR13C2	392376	broad.mit.edu	37	9	107367420	107367420	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107367420C>A	uc011lvq.1	-	c.489G>T	c.(487-489)GTG>GTT	p.V163V		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.1	8.810581	26.332724	11	99	KEEP	---	---	---	---	capture		Silent	SNP	107367420	107367420	11340	9	C	A	A	A	262	21	OR13C2	2	2
ASTN2	23245	broad.mit.edu	37	9	119737583	119737583	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737583C>T	uc004bjs.1	-	c.1793G>A	c.(1792-1794)AGC>AAC	p.S598N	ASTN2_uc004bjr.1_Missense_Mutation_p.S594N|ASTN2_uc004bjt.1_Missense_Mutation_p.S547N	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	598	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.078125	0.941263	12.569047	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119737583	119737583	1084	9	C	T	T	T	364	28	ASTN2	2	2
ASTN2	23245	broad.mit.edu	37	9	119737608	119737608	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737608C>A	uc004bjs.1	-	c.1768G>T	c.(1768-1770)GGC>TGC	p.G590C	ASTN2_uc004bjr.1_Missense_Mutation_p.G586C|ASTN2_uc004bjt.1_Missense_Mutation_p.G539C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	590	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.127273	6.723193	14.150919	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119737608	119737608	1084	9	C	A	A	A	286	22	ASTN2	2	2
TLR4	7099	broad.mit.edu	37	9	120476336	120476336	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476336G>T	uc004bjz.2	+	c.1930G>T	c.(1930-1932)GTA>TTA	p.V644L	TLR4_uc004bka.2_Missense_Mutation_p.V604L|TLR4_uc004bkb.2_Missense_Mutation_p.V444L	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	644	Helical; (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.157895	11.332215	15.567474	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120476336	120476336	16483	9	G	T	T	T	468	36	TLR4	2	2
TLR4	7099	broad.mit.edu	37	9	120476778	120476778	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120476778G>T	uc004bjz.2	+	c.2372G>T	c.(2371-2373)AGG>ATG	p.R791M	TLR4_uc004bka.2_Missense_Mutation_p.R751M|TLR4_uc004bkb.2_Missense_Mutation_p.R591M	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	791	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.191176	24.409584	30.521646	13	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120476778	120476778	16483	9	G	T	T	T	455	35	TLR4	2	2
FBXW2	26190	broad.mit.edu	37	9	123535119	123535119	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123535119C>A	uc004bkn.2	-	c.916_splice	c.e6-1	p.V306_splice	FBXW2_uc011lyc.1_Splice_Site_SNP_p.V145_splice|FBXW2_uc004bkl.1_Splice_Site_SNP_p.V274_splice|FBXW2_uc004bkm.1_Splice_Site_SNP_p.V274_splice|FBXW2_uc010mvj.1_Splice_Site_SNP_p.V209_splice	NM_012164	NP_036296			F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4														0.190476	8.687222	10.568369	4	17	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123535119	123535119	6003	9	C	A	A	A	312	24	FBXW2	5	2
CEP110	11064	broad.mit.edu	37	9	123877466	123877466	+	Silent	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123877466A>T	uc004bkx.1	+	c.1443A>T	c.(1441-1443)ATA>ATT	p.I481I	CEP110_uc004bky.1_Silent_p.I85I	NM_007018	NP_008949	Q7Z7A1	CE110_HUMAN	centrosomal protein 110kDa	481	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			ovary(3)|skin(1)	4										584				0.12766	9.230901	15.571087	6	41	KEEP	---	---	---	---	capture		Silent	SNP	123877466	123877466	3378	9	A	T	T	T	176	14	CEP110	3	3
PTGS1	5742	broad.mit.edu	37	9	125154597	125154597	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125154597G>C	uc004bmg.1	+	c.1574G>C	c.(1573-1575)GGG>GCG	p.G525A	PTGS1_uc011lys.1_Missense_Mutation_p.G463A|PTGS1_uc010mwb.1_Missense_Mutation_p.G379A|PTGS1_uc004bmf.1_Missense_Mutation_p.G488A|PTGS1_uc004bmh.1_Missense_Mutation_p.G416A|PTGS1_uc011lyt.1_Missense_Mutation_p.G416A	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	525					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)	1					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)									0.22619	44.197935	49.978504	19	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125154597	125154597	13210	9	G	C	C	C	559	43	PTGS1	3	3
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:126136903C>A	uc004bnx.1	+	c.3435C>A	c.(3433-3435)CTC>CTA	p.L1145L		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1145	Extracellular (Potential).|EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.294118	29.748113	31.031088	10	24	KEEP	---	---	---	---	capture		Silent	SNP	126136903	126136903	3988	9	C	A	A	A	392	31	CRB2	1	1
STXBP1	6812	broad.mit.edu	37	9	130432211	130432211	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130432211A>T	uc004brk.2	+	c.937A>T	c.(937-939)AGC>TGC	p.S313C	STXBP1_uc004brl.2_Missense_Mutation_p.S313C	NM_003165	NP_003156	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform a	313					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding				0														0.2	64.025973	75.744068	28	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130432211	130432211	15872	9	A	T	T	T	195	15	STXBP1	3	3
SH2D3C	10044	broad.mit.edu	37	9	130511549	130511549	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130511549G>A	uc004bsc.2	-	c.1080C>T	c.(1078-1080)GTC>GTT	p.V360V	SH2D3C_uc010mxo.2_Silent_p.V200V|SH2D3C_uc004bry.2_Silent_p.V202V|SH2D3C_uc004brz.3_Silent_p.V6V|SH2D3C_uc011mak.1_Silent_p.V6V|SH2D3C_uc004bsa.2_Silent_p.V203V|SH2D3C_uc004bsb.2_Silent_p.V292V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	360					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1														0.190476	12.569074	16.341919	8	34	KEEP	---	---	---	---	capture		Silent	SNP	130511549	130511549	14725	9	G	A	A	A	574	45	SH2D3C	2	2
SARDH	1757	broad.mit.edu	37	9	136573484	136573484	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136573484G>T	uc004cep.3	-	c.1395C>A	c.(1393-1395)GCC>GCA	p.A465A	SARDH_uc004ceo.2_Silent_p.A465A|SARDH_uc011mdn.1_Silent_p.A465A|SARDH_uc011mdo.1_Silent_p.A297A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	465					glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)										0.145161	12.734014	20.252033	9	53	KEEP	---	---	---	---	capture		Silent	SNP	136573484	136573484	14322	9	G	T	T	T	600	47	SARDH	2	2
ABCA2	20	broad.mit.edu	37	9	139905127	139905127	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139905127C>A	uc004ckm.1	-	c.6209G>T	c.(6208-6210)CGA>CTA	p.R2070L	ABCA2_uc011mel.1_Missense_Mutation_p.R2040L|ABCA2_uc011mem.1_Missense_Mutation_p.R2039L|ABCA2_uc004ckl.1_Missense_Mutation_p.R1970L	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2039					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|lysosomal membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)										0.211111	42.48279	49.428856	19	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139905127	139905127	33	9	C	A	A	A	403	31	ABCA2	1	1
ENTPD2	954	broad.mit.edu	37	9	139944322	139944322	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139944322C>G	uc004ckw.1	-	c.1149G>C	c.(1147-1149)CAG>CAC	p.Q383H	ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.Q383H	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	383	Extracellular (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)										0.178571	9.955117	12.683515	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139944322	139944322	5332	9	C	G	G	G	311	24	ENTPD2	3	3
CACNA1B	774	broad.mit.edu	37	9	140952664	140952664	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140952664G>A	uc004cog.2	+	c.4270G>A	c.(4270-4272)GAC>AAC	p.D1424N	CACNA1B_uc011mfd.1_Missense_Mutation_p.D954N|CACNA1B_uc004coi.2_Missense_Mutation_p.D638N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1424	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)									0.191919	42.833834	51.56053	19	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140952664	140952664	2655	9	G	A	A	A	533	41	CACNA1B	2	2
FREM1	158326	broad.mit.edu	37	9	14859203	14859203	+	Silent	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14859203T>C	uc003zlm.2	-	c.609A>G	c.(607-609)CCA>CCG	p.P203P	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	203					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.178571	11.160455	13.881182	5	23	KEEP	---	---	---	---	capture		Silent	SNP	14859203	14859203	6291	9	T	C	C	C	756	59	FREM1	4	4
SH3GL2	6456	broad.mit.edu	37	9	17795576	17795576	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17795576G>T	uc003zna.2	+	c.894G>T	c.(892-894)CTG>CTT	p.L298L	SH3GL2_uc011lmy.1_Silent_p.L251L	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	298	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding				0				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)										0.222222	15.637706	17.552559	6	21	KEEP	---	---	---	---	capture		Silent	SNP	17795576	17795576	14743	9	G	T	T	T	613	48	SH3GL2	2	2
IFNA6	3443	broad.mit.edu	37	9	21350617	21350617	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21350617G>T	uc011lni.1	-	c.270C>A	c.(268-270)CTC>CTA	p.L90L		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	90					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)										0.253521	42.111488	46.031145	18	53	KEEP	---	---	---	---	capture		Silent	SNP	21350617	21350617	7842	9	G	T	T	T	418	33	IFNA6	2	2
PIGO	84720	broad.mit.edu	37	9	35092239	35092239	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35092239C>A	uc003zwd.2	-	c.1645G>T	c.(1645-1647)GTC>TTC	p.V549F	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V112F	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	549	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.230769	30.926493	34.348375	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35092239	35092239	12318	9	C	A	A	A	247	19	PIGO	1	1
TLN1	7094	broad.mit.edu	37	9	35700302	35700302	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35700302G>A	uc003zxt.2	-	c.6546C>T	c.(6544-6546)ATC>ATT	p.I2182I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2182					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							587				0.23913	24.500316	27.360685	11	35	KEEP	---	---	---	---	capture		Silent	SNP	35700302	35700302	16477	9	G	A	A	A	577	45	TLN1	2	2
TLN1	7094	broad.mit.edu	37	9	35700304	35700304	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35700304T>A	uc003zxt.2	-	c.6544A>T	c.(6544-6546)ATC>TTC	p.I2182F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	2182					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							587				0.227273	23.827725	26.831678	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35700304	35700304	16477	9	T	A	A	A	637	49	TLN1	3	3
CD274	29126	broad.mit.edu	37	9	5465513	5465513	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5465513C>T	uc003zje.2	+	c.697C>T	c.(697-699)CAT>TAT	p.H233Y	C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_3'UTR|CD274_uc010mhn.2_Non-coding_Transcript|CD274_uc003zjf.2_Missense_Mutation_p.H119Y	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	233	Extracellular (Potential).				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)										0.2	15.552942	18.447324	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5465513	5465513	3119	9	C	T	T	T	221	17	CD274	2	2
PGM5	5239	broad.mit.edu	37	9	71098950	71098950	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71098950G>A	uc004agr.2	+	c.1465G>A	c.(1465-1467)GTG>ATG	p.V489M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	489					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.092593	1.131502	10.156575	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71098950	71098950	12224	9	G	A	A	A	624	48	PGM5	2	2
PIP5K1B	8395	broad.mit.edu	37	9	71555567	71555567	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71555567G>C	uc004agu.2	+	c.1363G>C	c.(1363-1365)GGA>CGA	p.G455R	PIP5K1B_uc011lrq.1_Missense_Mutation_p.G455R|PIP5K1B_uc004agv.2_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	455						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding				0				Lung(182;0.133)					p.G455R(MEWO-Tumor)	223				0.16	30.506086	41.461667	16	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71555567	71555567	12364	9	G	C	C	C	559	43	PIP5K1B	3	3
SMC5	23137	broad.mit.edu	37	9	72967157	72967157	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72967157C>T	uc004ahr.2	+	c.3216C>T	c.(3214-3216)TAC>TAT	p.Y1072Y	SMC5_uc011lry.1_Silent_p.Y217Y	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	1072					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3														0.135135	18.94126	33.206773	15	96	KEEP	---	---	---	---	capture		Silent	SNP	72967157	72967157	15284	9	C	T	T	T	220	17	SMC5	2	2
C9orf85	138241	broad.mit.edu	37	9	74526692	74526692	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74526692G>A	uc004ain.2	+	c.42G>A	c.(40-42)CAG>CAA	p.Q14Q	C9orf85_uc004aio.2_Non-coding_Transcript|C9orf85_uc010mou.2_Non-coding_Transcript|C9orf85_uc010mov.2_Non-coding_Transcript|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	14											0														0.134615	32.38038	52.603067	21	135	KEEP	---	---	---	---	capture		Silent	SNP	74526692	74526692	2617	9	G	A	A	A	425	33	C9orf85	2	2
PCSK5	5125	broad.mit.edu	37	9	78710913	78710913	+	Silent	SNP	C	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:78710913C>T	uc004ajz.2	+	c.1002C>T	c.(1000-1002)TCC>TCT	p.S334S	PCSK5_uc004ajy.2_Silent_p.S334S|PCSK5_uc004aka.2_Non-coding_Transcript	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	334	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3														0.102564	2.168761	8.311246	4	35	KEEP	---	---	---	---	capture		Silent	SNP	78710913	78710913	12024	9	C	T	T	T	262	21	PCSK5	2	2
PTPRD	5789	broad.mit.edu	37	9	8499764	8499764	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8499764G>T	uc003zkk.2	-	c.2205C>A	c.(2203-2205)CCC>CCA	p.P735P	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.P735P|PTPRD_uc003zkm.2_Silent_p.P722P|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	735	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.21519	36.751555	42.656736	17	62	KEEP	---	---	---	---	capture		Silent	SNP	8499764	8499764	13256	9	G	T	T	T	496	39	PTPRD	1	1
PTPRD	5789	broad.mit.edu	37	9	8518231	8518231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8518231G>T	uc003zkk.2	-	c.1160C>A	c.(1159-1161)TCG>TAG	p.S387*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.S381*|PTPRD_uc003zks.2_Nonsense_Mutation_p.S377*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.S374*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.S387*|PTPRD_uc003zko.2_Nonsense_Mutation_p.S384*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	387	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)					p.S387L(CAL27-Tumor)	1253	TSP Lung(15;0.13)			0.186275	40.160503	49.576284	19	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	8518231	8518231	13256	9	G	T	T	T	481	37	PTPRD	5	1
SLC28A3	64078	broad.mit.edu	37	9	86912137	86912137	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86912137T>C	uc010mpz.2	-	c.860A>G	c.(859-861)AAG>AGG	p.K287R	SLC28A3_uc011lsy.1_Missense_Mutation_p.K218R|SLC28A3_uc004anu.1_Missense_Mutation_p.K287R|SLC28A3_uc010mqb.2_Missense_Mutation_p.K218R	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	287	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			ovary(1)|pancreas(1)	2						Ovarian(106;425 1539 34835 42413 43572)								0.153846	10.894808	15.426612	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86912137	86912137	15030	9	T	C	C	C	728	56	SLC28A3	4	4
WNK2	65268	broad.mit.edu	37	9	95992121	95992121	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95992121G>T	uc004ati.1	+	c.825G>T	c.(823-825)ACG>ACT	p.T275T	WNK2_uc011lud.1_Silent_p.T275T|WNK2_uc004atj.2_Silent_p.T275T|WNK2_uc010mrc.1_Silent_p.T275T|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	275	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|large_intestine(1)|central_nervous_system(1)	7										1420				0.333333	13.770807	14.139413	5	10	KEEP	---	---	---	---	capture		Silent	SNP	95992121	95992121	17952	9	G	T	T	T	496	39	WNK2	1	1
PTPDC1	138639	broad.mit.edu	37	9	96860156	96860156	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96860156A>T	uc010mrj.1	+	c.1308A>T	c.(1306-1308)CAA>CAT	p.Q436H	PTPDC1_uc004auf.1_Missense_Mutation_p.Q382H|PTPDC1_uc004aug.1_Missense_Mutation_p.Q382H|PTPDC1_uc004auh.1_Missense_Mutation_p.Q434H|PTPDC1_uc010mri.1_Missense_Mutation_p.Q434H	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	382							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1														0.148936	11.300293	16.853709	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96860156	96860156	13228	9	A	T	T	T	24	2	PTPDC1	3	3
GLRA4	441509	broad.mit.edu	37	X	102974075	102974075	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102974075C>A	uc011mse.1	-	c.843G>T	c.(841-843)ATG>ATT	p.M281I	GLRA4_uc010nou.2_Missense_Mutation_p.M281I	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	281	Cytoplasmic (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0														0.205882	45.846583	54.008692	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102974075	102974075	6725	23	C	A	A	A	273	21	GLRA4	2	2
DCX	1641	broad.mit.edu	37	X	110576332	110576332	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110576332C>A	uc011msv.1	-	c.998G>T	c.(997-999)TGT>TTT	p.C333F	DCX_uc004epd.2_Missense_Mutation_p.C333F|DCX_uc004epe.2_Missense_Mutation_p.C252F|DCX_uc004epf.2_Missense_Mutation_p.C252F|DCX_uc004epg.2_Missense_Mutation_p.C252F	NM_178152	NP_835365	O43602	DCX_HUMAN	doublecortin isoform b	333	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4														0.214286	7.718475	8.772842	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110576332	110576332	4489	23	C	A	A	A	221	17	DCX	2	2
ARHGAP6	395	broad.mit.edu	37	X	11187695	11187695	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11187695C>A	uc004cup.1	-	c.1739G>T	c.(1738-1740)CGG>CTG	p.R580L	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.R580L|ARHGAP6_uc004cum.1_Missense_Mutation_p.R377L|ARHGAP6_uc004cun.1_Missense_Mutation_p.R400L|ARHGAP6_uc010neb.1_Missense_Mutation_p.R402L|ARHGAP6_uc011mif.1_Missense_Mutation_p.R377L	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	580	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2														0.271429	52.350898	55.613544	19	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11187695	11187695	901	23	C	A	A	A	299	23	ARHGAP6	1	1
AMOT	154796	broad.mit.edu	37	X	112058742	112058742	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:112058742C>A	uc004epr.2	-	c.1236G>T	c.(1234-1236)CGG>CGT	p.R412R	AMOT_uc004eps.2_Silent_p.R3R|AMOT_uc004ept.1_Silent_p.R412R	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	412					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1														0.214286	26.472291	30.69195	12	44	KEEP	---	---	---	---	capture		Silent	SNP	112058742	112058742	585	23	C	A	A	A	275	22	AMOT	2	2
AMELX	265	broad.mit.edu	37	X	11316746	11316746	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11316746C>A	uc004cus.2	+	c.265C>A	c.(265-267)CCG>ACG	p.P89T	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.2_Missense_Mutation_p.P75T|AMELX_uc004cuu.2_Missense_Mutation_p.P59T	NM_182680	NP_872621	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 3 precursor	75					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	extracellular matrix part|proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel				0														0.310811	57.690676	60.054092	23	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11316746	11316746	572	23	C	A	A	A	286	22	AMELX	2	2
KLHL13	90293	broad.mit.edu	37	X	117043381	117043381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117043381G>A	uc011mtp.1	-	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	KLHL13_uc004eqk.2_Nonsense_Mutation_p.R366*|KLHL13_uc004eql.2_Nonsense_Mutation_p.R417*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.R257*|KLHL13_uc011mto.1_Nonsense_Mutation_p.R411*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.R366*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.R401*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	417	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.238806	41.026547	45.159474	16	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117043381	117043381	8681	23	G	A	A	A	480	37	KLHL13	5	1
ZCCHC12	170261	broad.mit.edu	37	X	117960378	117960378	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117960378G>T	uc004equ.2	+	c.1171G>T	c.(1171-1173)GCC>TCC	p.A391S		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1														0.139535	8.418319	13.821336	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117960378	117960378	18169	23	G	T	T	T	546	42	ZCCHC12	2	2
GRIA3	2892	broad.mit.edu	37	X	122460066	122460066	+	Splice_Site_SNP	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122460066T>A	uc004etq.3	+	c.696_splice	c.e5+2	p.Q232_splice	GRIA3_uc004etr.3_Splice_Site_SNP_p.Q232_splice|GRIA3_uc004ets.3_Splice_Site_SNP|GRIA3_uc011muf.1_Splice_Site_SNP_p.Q216_splice	NM_007325	NP_015564			glutamate receptor, ionotrophic, AMPA 3 isoform						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.119048	5.621354	11.54159	5	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	122460066	122460066	7047	23	T	A	A	A	741	57	GRIA3	5	3
USP26	83844	broad.mit.edu	37	X	132160979	132160979	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132160979C>A	uc010nrm.1	-	c.1270G>T	c.(1270-1272)GAT>TAT	p.D424Y	USP26_uc011mvf.1_Missense_Mutation_p.D424Y	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	424					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.163462	30.542517	41.709303	17	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132160979	132160979	17620	23	C	A	A	A	377	29	USP26	2	2
SAGE1	55511	broad.mit.edu	37	X	134987498	134987498	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134987498A>C	uc004ezh.2	+	c.401A>C	c.(400-402)CAG>CCG	p.Q134P	SAGE1_uc010nry.1_Missense_Mutation_p.Q103P|SAGE1_uc011mvv.1_Missense_Mutation_p.Q134P	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	134										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.149254	17.506369	25.413169	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134987498	134987498	14289	23	A	C	C	C	91	7	SAGE1	4	4
GPR112	139378	broad.mit.edu	37	X	135429356	135429357	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135429356_135429357CT>AA	uc004ezu.1	+	c.3491_3492CT>AA	c.(3490-3492)ACT>AAA	p.T1164K	GPR112_uc010nsb.1_Missense_Mutation_p.T959K|GPR112_uc010nsc.1_Missense_Mutation_p.T931K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1164	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				0.222222	63.767976	72.02119	26	91	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	135429356	135429357	6903	23	CT	AA	AA	AA	260	20	GPR112	2	2
ZIC3	7547	broad.mit.edu	37	X	136649858	136649858	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:136649858G>C	uc004fak.2	+	c.1008G>C	c.(1006-1008)GGG>GGC	p.G336G		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	336	C2H2-type 3.|Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.242718	67.974157	74.24293	25	78	KEEP	---	---	---	---	capture		Silent	SNP	136649858	136649858	18271	23	G	C	C	C	522	41	ZIC3	3	3
GLRA2	2742	broad.mit.edu	37	X	14627266	14627266	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14627266G>T	uc010nep.2	+	c.869G>T	c.(868-870)GGC>GTC	p.G290V	GLRA2_uc010neq.2_Missense_Mutation_p.G290V|GLRA2_uc004cwe.3_Missense_Mutation_p.G290V|GLRA2_uc011mio.1_Missense_Mutation_p.G201V|GLRA2_uc011mip.1_Missense_Mutation_p.G268V	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	290	Helical; (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)									0.168539	26.963698	36.232356	15	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14627266	14627266	6723	23	G	T	T	T	546	42	GLRA2	2	2
MAGEA11	4110	broad.mit.edu	37	X	148798282	148798282	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148798282C>A	uc004fdq.2	+	c.1136C>A	c.(1135-1137)CCT>CAT	p.P379H	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P350H	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	379	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.204819	71.333968	84.786892	34	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148798282	148798282	9542	23	C	A	A	A	312	24	MAGEA11	2	2
GPR50	9248	broad.mit.edu	37	X	150349713	150349713	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:150349713C>A	uc010ntg.1	+	c.1658C>A	c.(1657-1659)CCT>CAT	p.P553H		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	553	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)													0.209677	28.138107	32.977381	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150349713	150349713	6972	23	C	A	A	A	312	24	GPR50	2	2
GABRE	2564	broad.mit.edu	37	X	151130895	151130895	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151130895C>A	uc004ffi.2	-	c.563G>T	c.(562-564)AGG>ATG	p.R188M	GABRE_uc011myd.1_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	188	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.115385	3.007997	6.795669	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151130895	151130895	6421	23	C	A	A	A	312	24	GABRE	2	2
BGN	633	broad.mit.edu	37	X	152772618	152772618	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152772618G>C	uc004fhr.1	+	c.884G>C	c.(883-885)GGG>GCG	p.G295A	BGN_uc004fhq.1_Non-coding_Transcript	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	295	LRR 10.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.230769	7.21801	8.081972	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152772618	152772618	1442	23	G	C	C	C	559	43	BGN	3	3
L1CAM	3897	broad.mit.edu	37	X	153129776	153129777	+	Missense	DNP	CC	AT	AT			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153129776C>A	uc004fjb.2	-	c.3322_splice	c.e24+1	p.G1108_splice	L1CAM_uc004fjc.2_Splice_Site_SNP_p.G1108_splice|L1CAM_uc010nuo.2_Splice_Site_SNP_p.G1103_splice	NM_000425	NP_000416			L1 cell adhesion molecule isoform 1 precursor						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.1875	41.814053	52.05714	21	91	KEEP	---	---	---	---	capture		Missense	DNP	153129776	153129777	8911	23	CC	AT	AT	A	234	18	L1CAM	2	2
GRPR	2925	broad.mit.edu	37	X	16168633	16168633	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:16168633C>A	uc004cxj.2	+	c.619C>A	c.(619-621)CCC>ACC	p.P207T		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	207	Extracellular (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)	3	Hepatocellular(33;0.183)													0.173913	26.922281	36.191477	16	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16168633	16168633	7087	23	C	A	A	A	286	22	GRPR	2	2
BEND2	139105	broad.mit.edu	37	X	18192213	18192213	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18192213C>G	uc004cyj.3	-	c.1918G>C	c.(1918-1920)GCT>CCT	p.A640P	BEND2_uc010nfb.2_Missense_Mutation_p.A549P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	640										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.111111	6.541805	13.270072	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18192213	18192213	1421	23	C	G	G	G	325	25	BEND2	3	3
KLHL34	257240	broad.mit.edu	37	X	21674824	21674824	+	Silent	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21674824C>A	uc004czz.1	-	c.1083G>T	c.(1081-1083)GTG>GTT	p.V361V		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	361	Kelch 1.									ovary(1)	1														0.190476	8.787288	10.668505	4	17	KEEP	---	---	---	---	capture		Silent	SNP	21674824	21674824	8701	23	C	A	A	A	210	17	KLHL34	2	2
PTCHD1	139411	broad.mit.edu	37	X	23412035	23412035	+	Silent	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23412035G>A	uc004dal.3	+	c.2400G>A	c.(2398-2400)CAG>CAA	p.Q800Q		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	800	Helical; (Potential).				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)	5														0.166667	19.198261	25.556679	10	50	KEEP	---	---	---	---	capture		Silent	SNP	23412035	23412035	13186	23	G	A	A	A	425	33	PTCHD1	2	2
FAM48B2	170067	broad.mit.edu	37	X	24330701	24330701	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24330701C>A	uc011mjw.1	-	c.732G>T	c.(730-732)TGG>TGT	p.W244C		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	244											0														0.194444	29.710847	35.982423	14	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24330701	24330701	5796	23	C	A	A	A	338	26	FAM48B2	2	2
DCAF8L1	139425	broad.mit.edu	37	X	27999046	27999046	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27999046C>A	uc004dbx.1	-	c.406G>T	c.(406-408)GAT>TAT	p.D136Y		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	136										ovary(3)	3														0.190476	7.586612	9.468717	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27999046	27999046	4448	23	C	A	A	A	390	30	DCAF8L1	2	2
MAGEB16	139604	broad.mit.edu	37	X	35821107	35821107	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35821107T>A	uc010ngt.1	+	c.794T>A	c.(793-795)GTG>GAG	p.V265E		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	265	MAGE.									lung(3)|ovary(2)|breast(1)	6										43				0.173913	7.888406	10.196357	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35821107	35821107	9555	23	T	A	A	A	767	59	MAGEB16	3	3
USP9X	8239	broad.mit.edu	37	X	41000658	41000658	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41000658G>C	uc004dfb.2	+	c.1135G>C	c.(1135-1137)GAG>CAG	p.E379Q	USP9X_uc004dfc.2_Missense_Mutation_p.E379Q	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	379					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			ovary(1)	1						Ovarian(172;1807 2695 35459 49286)								0.162162	12.925975	16.941548	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41000658	41000658	17654	23	G	C	C	C	429	33	USP9X	3	3
UBA1	7317	broad.mit.edu	37	X	47062972	47062972	+	Silent	SNP	C	G	G			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47062972C>G	uc004dhj.3	+	c.1452C>G	c.(1450-1452)CTC>CTG	p.L484L	UBA1_uc004dhk.3_Silent_p.L484L|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	484	1-2.|ATP (By similarity).|2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1														0.217391	26.934506	30.314692	10	36	KEEP	---	---	---	---	capture		Silent	SNP	47062972	47062972	17384	23	C	G	G	G	366	29	UBA1	3	3
OTUD5	55593	broad.mit.edu	37	X	48783166	48783166	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48783166C>A	uc004dlu.2	-	c.1235G>T	c.(1234-1236)CGG>CTG	p.R412L	OTUD5_uc004dlt.3_Missense_Mutation_p.R407L|OTUD5_uc004dlv.2_Missense_Mutation_p.R407L|OTUD5_uc011mmp.1_Missense_Mutation_p.R190L	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	412					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1														0.222222	9.890423	11.168045	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48783166	48783166	11728	23	C	A	A	A	299	23	OTUD5	1	1
KCND1	3750	broad.mit.edu	37	X	48820029	48820029	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48820029T>A	uc004dlx.1	-	c.1757A>T	c.(1756-1758)GAC>GTC	p.D586V	KCND1_uc004dlw.1_Missense_Mutation_p.D209V	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	586	Cytoplasmic (Potential).					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3														0.333333	13.620234	14.075089	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48820029	48820029	8323	23	T	A	A	A	754	58	KCND1	3	3
TSR2	90121	broad.mit.edu	37	X	54467179	54467179	+	Silent	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54467179G>C	uc004dte.2	+	c.138G>C	c.(136-138)CTG>CTC	p.L46L	TSR2_uc004dtf.2_Intron	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	46					rRNA processing		protein binding				0														0.217391	9.461124	11.156921	5	18	KEEP	---	---	---	---	capture		Silent	SNP	54467179	54467179	17218	23	G	C	C	C	600	47	TSR2	3	3
ITIH5L	347365	broad.mit.edu	37	X	54783923	54783923	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54783923G>A	uc004dtj.2	-	c.2584C>T	c.(2584-2586)CCA>TCA	p.P862S		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	862	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.178571	7.928447	10.70338	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54783923	54783923	8212	23	G	A	A	A	572	44	ITIH5L	2	2
KIAA2022	340533	broad.mit.edu	37	X	73963350	73963350	+	Silent	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73963350G>T	uc004eby.2	-	c.1042C>A	c.(1042-1044)CGA>AGA	p.R348R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	348					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.186667	27.197351	34.154194	14	61	KEEP	---	---	---	---	capture		Silent	SNP	73963350	73963350	8580	23	G	T	T	T	493	38	KIAA2022	1	1
TBX22	50945	broad.mit.edu	37	X	79277918	79277918	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79277918C>A	uc010nmg.1	+	c.150C>A	c.(148-150)AGC>AGA	p.S50R	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.S50R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	50					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.307692	10.59684	11.024546	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79277918	79277918	16184	23	C	A	A	A	350	27	TBX22	1	1
CYLC1	1538	broad.mit.edu	37	X	83128556	83128556	+	Nonsense_Mutation	SNP	T	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83128556T>A	uc004eei.1	+	c.840T>A	c.(838-840)TAT>TAA	p.Y280*	CYLC1_uc004eeh.1_Nonsense_Mutation_p.Y279*	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	280	1.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.28	20.173517	21.225592	7	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83128556	83128556	4306	23	T	A	A	A	634	49	CYLC1	5	3
PABPC5	140886	broad.mit.edu	37	X	90691715	90691715	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:90691715G>C	uc004efg.2	+	c.1139G>C	c.(1138-1140)CGC>CCC	p.R380P	PABPC5_uc004eff.1_Missense_Mutation_p.R216P	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	380						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3														0.294118	15.568389	16.213184	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90691715	90691715	11783	23	G	C	C	C	494	38	PABPC5	3	3
FAM133A	286499	broad.mit.edu	37	X	92964820	92964820	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92964820G>T	uc004efr.1	+	c.402G>T	c.(400-402)AAG>AAT	p.K134N		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	134	Ser-rich.|Lys-rich.										0														0.5	9.324716	9.324716	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92964820	92964820	5640	23	G	T	T	T	425	33	FAM133A	2	2
C11orf41	25758	broad.mit.edu	37	11	33604956	33604958	+	In_Frame_Del	DEL	TCA	-	-			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33604956_33604958delTCA	uc001mup.3	+	c.3602_3604delTCA	c.(3601-3606)GTCATC>GTC	p.I1206del	C11orf41_uc001mun.1_In_Frame_Del_p.I1206del	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1200	Poly-Ile.|Helical; (Potential).					integral to membrane				ovary(2)	2														0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	33604956	33604958	1679	11	TCA	-	-	-	754	58	C11orf41	5	5
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site_Ins	INS	-	C	C	rs67934205;rs68078752		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26684390_26684391insC	uc002haz.2	-	c.79_splice	c.e3+0	p.P27_splice	POLDIP2_uc010wag.1_Non-coding_Transcript|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	NM_015584	NP_056399			DNA polymerase delta interacting protein 2							mitochondrial nucleoid|nucleus					0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)										0.44			4	5		---	---	---	---	capture_indel		Splice_Site_Ins	INS	26684390	26684391	12622	17	-	C	C	C	542	42	POLDIP2	5	5
DOT1L	84444	broad.mit.edu	37	19	2222371	2222371	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2222371_2222371delC	uc002lvb.3	+	c.3203_3203delC	c.(3202-3204)ACCfs	p.T1068fs	DOT1L_uc002lvc.1_Frame_Shift_Del_p.T362fs|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	1068						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.30			7	16		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	2222371	2222371	4893	19	C	-	-	-	234	18	DOT1L	5	5
NKPD1	284353	broad.mit.edu	37	19	45655751	45655752	+	Frame_Shift_Ins	INS	-	T	T			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45655751_45655752insT	uc010xxi.1	-	c.1943_1944insA	c.(1942-1944)CCCfs	p.P648fs		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)										0.57			8	6		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	45655751	45655752	10847	19	-	T	T	T	600	47	NKPD1	5	5
ZNF813	126017	broad.mit.edu	37	19	53994115	53994116	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53994115_53994116delTG	uc002qbu.2	+	c.629_630delTG	c.(628-630)ATGfs	p.M210fs	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)										0.43			46	62		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	53994115	53994116	18773	19	TG	-	-	-	663	51	ZNF813	5	5
LILRA1	11024	broad.mit.edu	37	19	55106837	55106837	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106837_55106837delC	uc002qgh.1	+	c.631_631delC	c.(631-633)CCCfs	p.P211fs	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Frame_Shift_Del_p.P211fs	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	211	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.48			62	67		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55106837	55106837	9110	19	C	-	-	-	234	18	LILRA1	5	5
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	-	-	rs112308001;rs79839275;rs74754936;rs79314166		TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	uc010zod.1	-	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)AGTCCTTCATCCATGCCTCTTCACCCACGGfs	p.S86fs		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	86_95	Pro-rich.									ovary(1)	1														0.38			6	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	240982117	240982144	13040	2	GTGGGTGAAGAGGCATGGATGAAGGACT	-	-	-	519	40	PRR21	5	5
PCDHAC2	56134	broad.mit.edu	37	5	140348144	140348144	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140348144_140348144delC	uc003lii.2	+	c.1793_1793delC	c.(1792-1794)GCCfs	p.A598fs	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Frame_Shift_Del_p.A598fs	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(190;638 2083 3390 11909 52360)								0.40			16	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140348144	140348144	11953	5	C	-	-	-	338	26	PCDHAC2	5	5
ZNF292	23036	broad.mit.edu	37	6	87964645	87964646	+	Frame_Shift_Ins	INS	-	A	A			TCGA-64-5781-01	TCGA-64-5781-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87964645_87964646insA	uc003plm.3	+	c.1298_1299insA	c.(1297-1299)TTAfs	p.L433fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.31			11	25		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	87964645	87964646	18418	6	-	A	A	A	793	61	ZNF292	5	5
