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
FBXW4	6468	broad.mit.edu	37	10	103384540	103384540	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103384540G>A	uc001kto.2	-	c.798C>T	c.(796-798)TGC>TGT	p.C266C		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	266					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)										0.2	10.959273	13.45475	6	24	KEEP	---	---	---	---	capture		Silent	SNP	103384540	103384540	6004	10	G	A	A	A	490	38	FBXW4	1	1
C10orf79	80217	broad.mit.edu	37	10	105902094	105902094	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105902094C>T	uc001kxw.2	-	c.4216G>A	c.(4216-4218)GAG>AAG	p.E1406K	C10orf79_uc009xxq.2_Missense_Mutation_p.E685K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1406	Potential.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)										0.128205	10.684207	21.258322	10	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105902094	105902094	1655	10	C	T	T	T	377	29	C10orf79	2	2
PDCD4	27250	broad.mit.edu	37	10	112641277	112641277	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112641277G>T	uc001kzh.2	+	c.330G>T	c.(328-330)AGG>AGT	p.R110S	PDCD4_uc001kzg.2_Missense_Mutation_p.R99S|PDCD4_uc010qre.1_Missense_Mutation_p.R96S	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	110					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		Ovarian(115;1498 1603 9363 40056 40885)								0.30303	27.536561	28.679862	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112641277	112641277	12042	10	G	T	T	T	555	43	PDCD4	2	2
GRK5	2869	broad.mit.edu	37	10	121214575	121214575	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121214575G>T	uc001led.2	+	c.1769G>T	c.(1768-1770)AGC>ATC	p.S590I	GRK5_uc009xzh.2_Missense_Mutation_p.S455I	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	590					G-protein signaling, coupled to cAMP nucleotide second messenger|protein phosphorylation|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)	2		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)						989				0.37931	33.720058	34.089894	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121214575	121214575	7071	10	G	T	T	T	442	34	GRK5	2	2
SUV39H2	79723	broad.mit.edu	37	10	14939506	14939506	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:14939506A>C	uc001inh.2	+	c.659A>C	c.(658-660)TAT>TCT	p.Y220S	SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Missense_Mutation_p.Y220S|SUV39H2_uc001inj.2_Missense_Mutation_p.Y220S	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2	280	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|ovary(1)	3														0.04918	-6.087298	7.041352	3	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14939506	14939506	15933	10	A	C	C	C	208	16	SUV39H2	4	4
CUBN	8029	broad.mit.edu	37	10	16982167	16982167	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16982167C>A	uc001ioo.2	-	c.5412G>T	c.(5410-5412)ACG>ACT	p.T1804T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1804	CUB 12.				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				0.207171	126.07346	145.946412	52	199	KEEP	---	---	---	---	capture		Silent	SNP	16982167	16982167	4211	10	C	A	A	A	288	23	CUBN	1	1
MRC1	4360	broad.mit.edu	37	10	17891603	17891603	+	Missense_Mutation	SNP	T	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17891603T>G	uc001ipk.2	+	c.1084T>G	c.(1084-1086)TGT>GGT	p.C362G		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	362	Extracellular (Potential).				receptor-mediated endocytosis	integral to plasma membrane	mannose binding|receptor activity				0						GBM(115;1153 1594 28187 28781 35884)								0.171429	30.466329	41.220301	18	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17891603	17891603	10148	10	T	G	G	G	715	55	MRC1	4	4
DNAJC1	64215	broad.mit.edu	37	10	22207776	22207776	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22207776C>G	uc001irc.2	-	c.661G>C	c.(661-663)GAT>CAT	p.D221H	DNAJC1_uc001ird.2_Missense_Mutation_p.D107H	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	221	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)												0.34375	35.715305	36.405405	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22207776	22207776	4811	10	C	G	G	G	377	29	DNAJC1	3	3
SPAG6	9576	broad.mit.edu	37	10	22680714	22680714	+	Silent	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22680714T>A	uc001iri.2	+	c.1062T>A	c.(1060-1062)GCT>GCA	p.A354A	SPAG6_uc001irj.2_Silent_p.A354A|SPAG6_uc010qct.1_Silent_p.A324A|SPAG6_uc009xkh.2_Silent_p.A332A	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	354	ARM 7.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.292683	34.783987	36.361525	12	29	KEEP	---	---	---	---	capture		Silent	SNP	22680714	22680714	15485	10	T	A	A	A	704	55	SPAG6	3	3
PIP4K2A	5305	broad.mit.edu	37	10	22880696	22880696	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22880696C>T	uc001irl.3	-	c.354G>A	c.(352-354)AGG>AGA	p.R118R	PIP4K2A_uc010qcu.1_5'UTR	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	118	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2										213				0.409091	53.244212	53.561085	18	26	KEEP	---	---	---	---	capture		Silent	SNP	22880696	22880696	12360	10	C	T	T	T	389	30	PIP4K2A	2	2
ZNF25	219749	broad.mit.edu	37	10	38246347	38246347	+	Splice_Site_SNP	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:38246347C>A	uc001ize.1	-	c.142_splice	c.e3+1	p.G48_splice	ZNF25_uc001izf.1_Splice_Site_SNP_p.G12_splice	NM_145011	NP_659448			zinc finger protein 25						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)												0.244444	56.106585	61.461824	22	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	38246347	38246347	18385	10	C	A	A	A	234	18	ZNF25	5	2
ZNF485	220992	broad.mit.edu	37	10	44112805	44112805	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:44112805G>T	uc010qfc.1	+	c.1314G>T	c.(1312-1314)ATG>ATT	p.M438I	ZNF485_uc010qfd.1_Missense_Mutation_p.M347I	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.464286	41.272242	41.303385	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44112805	44112805	18532	10	G	T	T	T	585	45	ZNF485	2	2
C10orf72	196740	broad.mit.edu	37	10	50255081	50255081	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50255081C>A	uc001jhf.2	-	c.784G>T	c.(784-786)GCC>TCC	p.A262S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	262	Cytoplasmic (Potential).					integral to membrane|plasma membrane				large_intestine(1)|liver(1)	2														0.435294	111.910503	112.209922	37	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50255081	50255081	1652	10	C	A	A	A	364	28	C10orf72	2	2
PGBD3	267004	broad.mit.edu	37	10	50724060	50724060	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50724060C>A	uc009xoe.2	-	c.2505G>T	c.(2503-2505)ATG>ATT	p.M835I	ERCC6_uc001jhs.3_Intron|PGBD3_uc001jht.2_Missense_Mutation_p.M367I|PGBD3_uc001jhu.2_Missense_Mutation_p.M835I	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	367										breast(1)|pancreas(1)	2										5				0.371795	87.764634	88.887034	29	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50724060	50724060	12205	10	C	A	A	A	273	21	PGBD3	2	2
DDX50	79009	broad.mit.edu	37	10	70694664	70694664	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70694664A>T	uc001jou.2	+	c.1511A>T	c.(1510-1512)GAA>GTA	p.E504V	DDX50_uc010qjc.1_Missense_Mutation_p.E504V	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	504	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1														0.416667	69.465078	69.827877	25	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70694664	70694664	4539	10	A	T	T	T	117	9	DDX50	3	3
H2AFY2	55506	broad.mit.edu	37	10	71851628	71851628	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71851628C>A	uc001jqm.2	+	c.395C>A	c.(394-396)CCA>CAA	p.P132Q	H2AFY2_uc001jqn.2_Non-coding_Transcript	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	132	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0														0.527778	60.425455	60.449513	19	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71851628	71851628	7211	10	C	A	A	A	273	21	H2AFY2	2	2
LDB3	11155	broad.mit.edu	37	10	88441349	88441349	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88441349G>T	uc010qmm.1	+	c.478G>T	c.(478-480)GAC>TAC	p.D160Y	LDB3_uc010qml.1_Missense_Mutation_p.D160Y|LDB3_uc001kdu.2_Intron|LDB3_uc001kdv.2_Missense_Mutation_p.D160Y|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Missense_Mutation_p.D160Y|LDB3_uc001kds.2_Missense_Mutation_p.D160Y|LDB3_uc001kdt.2_Non-coding_Transcript	NM_001080114	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 2	160						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.243902	21.62924	24.081511	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88441349	88441349	9021	10	G	T	T	T	585	45	LDB3	2	2
PLCE1	51196	broad.mit.edu	37	10	95791904	95791904	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95791904G>T	uc001kjk.2	+	c.1101G>T	c.(1099-1101)AAG>AAT	p.K367N	PLCE1_uc010qnx.1_Missense_Mutation_p.K367N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	367					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.354167	47.756666	48.658327	17	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95791904	95791904	12460	10	G	T	T	T	425	33	PLCE1	2	2
ENTPD1	953	broad.mit.edu	37	10	97607405	97607405	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97607405C>A	uc010qoj.1	+	c.1052C>A	c.(1051-1053)CCT>CAT	p.P351H	ENTPD1_uc001kli.3_Missense_Mutation_p.P346H|ENTPD1_uc010qok.1_Missense_Mutation_p.P231H|ENTPD1_uc010qol.1_Missense_Mutation_p.P231H|ENTPD1_uc001klh.3_Missense_Mutation_p.P339H|ENTPD1_uc010qom.1_Missense_Mutation_p.P298H|ENTPD1_uc010qon.1_Missense_Mutation_p.P201H|ENTPD1_uc009xva.2_Missense_Mutation_p.P201H|ENTPD1_uc009xuz.2_Non-coding_Transcript	NM_001164178	NP_001157650	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	339	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)										0.337349	75.309025	77.283299	28	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97607405	97607405	5331	10	C	A	A	A	312	24	ENTPD1	2	2
MMP10	4319	broad.mit.edu	37	11	102647152	102647152	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102647152G>T	uc001phg.1	-	c.791C>A	c.(790-792)CCT>CAT	p.P264H		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	264					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)										0.34375	31.725149	32.410558	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102647152	102647152	10039	11	G	T	T	T	455	35	MMP10	2	2
DSCAML1	57453	broad.mit.edu	37	11	117392117	117392117	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117392117G>A	uc001prh.1	-	c.1121C>T	c.(1120-1122)CCC>CTC	p.P374L	DSCAML1_uc001pri.1_Missense_Mutation_p.P178L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	314	Extracellular (Potential).|Ig-like C2-type 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.473684	27.269499	27.281178	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117392117	117392117	4953	11	G	A	A	A	559	43	DSCAML1	2	2
MYOD1	4654	broad.mit.edu	37	11	17742882	17742882	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17742882C>A	uc001mni.2	+	c.790C>A	c.(790-792)CCT>ACT	p.P264T		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	264					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.333333	14.991061	15.349659	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17742882	17742882	10483	11	C	A	A	A	286	22	MYOD1	2	2
MRGPRX1	259249	broad.mit.edu	37	11	18955987	18955987	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18955987G>A	uc001mpg.2	-	c.345C>T	c.(343-345)GCC>GCT	p.A115A		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	115	Helical; Name=3; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3														0.153846	22.31208	34.306231	16	88	KEEP	---	---	---	---	capture		Silent	SNP	18955987	18955987	10159	11	G	A	A	A	496	39	MRGPRX1	1	1
OSBPL5	114879	broad.mit.edu	37	11	3123481	3123481	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3123481C>G	uc001lxk.2	-	c.1357G>C	c.(1357-1359)GGG>CGG	p.G453R	OSBPL5_uc010qxq.1_Missense_Mutation_p.G364R|OSBPL5_uc009ydw.2_Missense_Mutation_p.G385R|OSBPL5_uc001lxl.2_Missense_Mutation_p.G385R|OSBPL5_uc009ydx.2_Missense_Mutation_p.G477R	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	453					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)										0.75	10.727512	10.954158	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3123481	3123481	11691	11	C	G	G	G	286	22	OSBPL5	3	3
TRAF6	7189	broad.mit.edu	37	11	36511949	36511949	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36511949G>A	uc001mwr.1	-	c.1008C>T	c.(1006-1008)ACC>ACT	p.T336T	TRAF6_uc001mws.1_Silent_p.T336T	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	336	Potential.|Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|transcription repressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)								148				0.160305	38.475625	52.906908	21	110	KEEP	---	---	---	---	capture		Silent	SNP	36511949	36511949	16989	11	G	A	A	A	548	43	TRAF6	2	2
F2	2147	broad.mit.edu	37	11	46744801	46744801	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46744801C>A	uc001ndf.3	+	c.388C>A	c.(388-390)CAG>AAG	p.Q130K	F2_uc001ndg.3_Non-coding_Transcript	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	130	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	Esophageal Squamous(147;1147 1808 2148 38609 51144)								0.191489	39.11475	47.460382	18	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46744801	46744801	5536	11	C	A	A	A	273	21	F2	2	2
NR1H3	10062	broad.mit.edu	37	11	47282972	47282972	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47282972G>T	uc001nel.2	+	c.545G>T	c.(544-546)CGC>CTC	p.R182L	NR1H3_uc009yll.1_Missense_Mutation_p.R233L|NR1H3_uc010rhk.1_Missense_Mutation_p.R233L|NR1H3_uc001nek.2_Missense_Mutation_p.R182L|NR1H3_uc001nej.2_Missense_Mutation_p.R227L|NR1H3_uc009ylm.2_Missense_Mutation_p.R227L|NR1H3_uc001nen.3_Missense_Mutation_p.R227L|NR1H3_uc001nem.2_Missense_Mutation_p.R227L|NR1H3_uc001nep.2_Missense_Mutation_p.R136L	NM_001130102	NP_001123574	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	227	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of macrophage derived foam cell differentiation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3										119				0.361111	36.199111	36.795524	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47282972	47282972	11023	11	G	T	T	T	494	38	NR1H3	1	1
CELF1	10658	broad.mit.edu	37	11	47506016	47506016	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47506016T>C	uc001nfp.2	-	c.451A>G	c.(451-453)ATC>GTC	p.I151V	CELF1_uc001nfl.2_Missense_Mutation_p.I124V|CELF1_uc001nfm.2_Missense_Mutation_p.I124V|CELF1_uc001nfn.2_Missense_Mutation_p.I124V|CELF1_uc001nfo.1_Missense_Mutation_p.I150V|CELF1_uc010rhm.1_Missense_Mutation_p.I123V|CELF1_uc001nfq.1_Missense_Mutation_p.I124V|CELF1_uc001nfr.1_Missense_Mutation_p.I124V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	124	RRM 2.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						Pancreas(163;1949 1966 9906 43218 43785)								0.355932	60.370327	61.443903	21	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47506016	47506016	3348	11	T	C	C	C	663	51	CELF1	4	4
AGBL2	79841	broad.mit.edu	37	11	47712103	47712103	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47712103C>T	uc001ngg.2	-	c.1156G>A	c.(1156-1158)GAC>AAC	p.D386N	AGBL2_uc001ngf.2_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.D348N|AGBL2_uc001ngh.1_Missense_Mutation_p.D330N	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	386					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.347222	68.292389	69.803699	25	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47712103	47712103	378	11	C	T	T	T	377	29	AGBL2	2	2
OR4C46	119749	broad.mit.edu	37	11	51516184	51516184	+	Silent	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51516184T>C	uc010ric.1	+	c.903T>C	c.(901-903)AGT>AGC	p.S301S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.421053	51.794903	52.001131	16	22	KEEP	---	---	---	---	capture		Silent	SNP	51516184	51516184	11458	11	T	C	C	C	738	57	OR4C46	4	4
OR5D14	219436	broad.mit.edu	37	11	55563359	55563359	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563359G>T	uc010rim.1	+	c.328G>T	c.(328-330)GTG>TTG	p.V110L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.432432	53.196096	53.343089	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563359	55563359	11565	11	G	T	T	T	624	48	OR5D14	2	2
OR8H2	390151	broad.mit.edu	37	11	55873241	55873241	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55873241C>A	uc010riy.1	+	c.723C>A	c.(721-723)TGC>TGA	p.C241*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.327869	57.583144	59.184396	20	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55873241	55873241	11649	11	C	A	A	A	350	27	OR8H2	5	1
OR8J3	81168	broad.mit.edu	37	11	55904269	55904269	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904269C>A	uc010riz.1	-	c.926G>T	c.(925-927)TGT>TTT	p.C309F		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.314815	51.48393	53.116182	17	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55904269	55904269	11653	11	C	A	A	A	221	17	OR8J3	2	2
OR5T3	390154	broad.mit.edu	37	11	56020158	56020158	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020158G>A	uc010rjd.1	+	c.483G>A	c.(481-483)CTG>CTA	p.L161L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	161	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.147651	35.448081	53.218106	22	127	KEEP	---	---	---	---	capture		Silent	SNP	56020158	56020158	11593	11	G	A	A	A	613	48	OR5T3	2	2
OR52N4	390072	broad.mit.edu	37	11	5776568	5776568	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5776568T>A	uc001mbu.2	+	c.598T>A	c.(598-600)TAT>AAT	p.Y200N	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)										0.356164	77.83733	79.164409	26	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5776568	5776568	11539	11	T	A	A	A	689	53	OR52N4	3	3
OR52N2	390077	broad.mit.edu	37	11	5841931	5841931	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5841931G>T	uc010qzp.1	+	c.366G>T	c.(364-366)CTG>CTT	p.L122L	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.133333	10.023403	17.947193	8	52	KEEP	---	---	---	---	capture		Silent	SNP	5841931	5841931	11538	11	G	T	T	T	600	47	OR52N2	2	2
OR56A3	390083	broad.mit.edu	37	11	5968952	5968952	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5968952C>A	uc010qzt.1	+	c.376C>A	c.(376-378)CGT>AGT	p.R126S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.301075	79.879497	83.157727	28	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5968952	5968952	11544	11	C	A	A	A	403	31	OR56A3	1	1
EHD1	10938	broad.mit.edu	37	11	64622062	64622062	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64622062C>T	uc010rnq.1	-	c.1390G>A	c.(1390-1392)GAG>AAG	p.E464K	EHD1_uc001obt.1_Missense_Mutation_p.E133K|EHD1_uc001obu.1_Missense_Mutation_p.E450K|EHD1_uc001obv.1_Missense_Mutation_p.E450K	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	450	EH.				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0														0.372549	55.135045	55.853141	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64622062	64622062	5166	11	C	T	T	T	403	31	EHD1	1	1
RHOD	29984	broad.mit.edu	37	11	66833438	66833438	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66833438C>T	uc001ojv.2	+	c.204C>T	c.(202-204)CAC>CAT	p.H68H		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	68					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0														0.5	17.949372	17.949372	6	6	KEEP	---	---	---	---	capture		Silent	SNP	66833438	66833438	13812	11	C	T	T	T	220	17	RHOD	2	2
GSTP1	2950	broad.mit.edu	37	11	67353590	67353590	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67353590G>T	uc001omf.2	+	c.352G>T	c.(352-354)GAC>TAC	p.D118Y	GSTP1_uc001omg.1_Missense_Mutation_p.D99Y	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	118	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)									0.454545	11.593533	11.622032	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67353590	67353590	7124	11	G	T	T	T	585	45	GSTP1	2	2
OR10A4	283297	broad.mit.edu	37	11	6898490	6898490	+	Silent	SNP	T	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6898490T>G	uc010rat.1	+	c.612T>G	c.(610-612)ACT>ACG	p.T204T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	204	Helical; Name=5; (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)										0.171875	21.285301	27.79903	11	53	KEEP	---	---	---	---	capture		Silent	SNP	6898490	6898490	11298	11	T	G	G	G	704	55	OR10A4	4	4
FAT3	120114	broad.mit.edu	37	11	92086338	92086338	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92086338C>A	uc001pdj.3	+	c.1060C>A	c.(1060-1062)CAA>AAA	p.Q354K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	354	Cadherin 3.|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)			0.3	8.121389	8.478602	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92086338	92086338	5927	11	C	A	A	A	377	29	FAT3	2	2
PANX1	24145	broad.mit.edu	37	11	93912816	93912816	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93912816G>T	uc001per.2	+	c.594G>T	c.(592-594)CAG>CAT	p.Q198H	PANX1_uc001peq.2_Missense_Mutation_p.Q198H	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	198	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.35	21.619063	22.016075	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93912816	93912816	11837	11	G	T	T	T	464	36	PANX1	2	2
NT5DC3	51559	broad.mit.edu	37	12	104190758	104190758	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104190758C>A	uc010swe.1	-	c.667G>T	c.(667-669)GAG>TAG	p.E223*		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	223							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3														0.466667	65.66719	65.71083	21	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	104190758	104190758	11097	12	C	A	A	A	403	31	NT5DC3	5	1
MAPKAPK5	8550	broad.mit.edu	37	12	112323739	112323739	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112323739G>T	uc001tta.2	+	c.868G>T	c.(868-870)GAG>TAG	p.E290*	MAPKAPK5_uc001tsz.2_Nonsense_Mutation_p.E290*|MAPKAPK5_uc001ttb.2_Nonsense_Mutation_p.E223*	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	MAP kinase-activated protein kinase 5 isoform 2	290	Protein kinase.				protein phosphorylation|signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			ovary(1)	1										286				0.590909	38.686417	38.849891	13	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	112323739	112323739	9674	12	G	T	T	T	533	41	MAPKAPK5	5	2
PIK3C2G	5288	broad.mit.edu	37	12	18719923	18719923	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18719923C>T	uc010sib.1	+	c.3943C>T	c.(3943-3945)CAC>TAC	p.H1315Y	PIK3C2G_uc001rdt.2_Missense_Mutation_p.H1274Y|PIK3C2G_uc010sia.1_Non-coding_Transcript|PIK3C2G_uc010sic.1_Missense_Mutation_p.H1093Y	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	1274	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(6)|lung(4)|ovary(2)|breast(1)	13		Hepatocellular(102;0.194)								655				0.35	38.730762	39.52791	14	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18719923	18719923	12335	12	C	T	T	T	377	29	PIK3C2G	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20870080	20870080	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20870080G>T	uc010sii.1	+	c.691G>T	c.(691-693)GTT>TTT	p.V231F	SLCO1C1_uc010sij.1_Missense_Mutation_p.V182F|SLCO1C1_uc001rej.3_Missense_Mutation_p.V231F|SLCO1C1_uc009zip.2_Missense_Mutation_p.V65F|SLCO1C1_uc001rei.2_Missense_Mutation_p.V231F|SLCO1C1_uc010sik.1_Missense_Mutation_p.V113F	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	231	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.333333	37.861692	38.82127	13	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20870080	20870080	15222	12	G	T	T	T	572	44	SLCO1C1	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20896250	20896250	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20896250C>A	uc010sii.1	+	c.1745C>A	c.(1744-1746)CCA>CAA	p.P582Q	SLCO1C1_uc010sij.1_Missense_Mutation_p.P533Q|SLCO1C1_uc001rej.3_Missense_Mutation_p.P582Q|SLCO1C1_uc009zip.2_Missense_Mutation_p.P416Q|SLCO1C1_uc001rei.2_Missense_Mutation_p.P582Q|SLCO1C1_uc010sik.1_Missense_Mutation_p.P464Q	NM_001145946	NP_001139418	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	582	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)	6	Esophageal squamous(101;0.149)													0.394958	144.442788	145.577359	47	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20896250	20896250	15222	12	C	A	A	A	273	21	SLCO1C1	2	2
C12orf77	196415	broad.mit.edu	37	12	25148752	25148752	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25148752C>T	uc001rgf.2	-	c.396G>A	c.(394-396)GGG>GGA	p.G132G		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	hypothetical protein LOC196415	132											0														0.294118	15.16825	15.813109	5	12	KEEP	---	---	---	---	capture		Silent	SNP	25148752	25148752	1763	12	C	T	T	T	379	30	C12orf77	2	2
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.421053	24.596926	24.700239	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43858522	43858522	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43858522C>A	uc010skx.1	-	c.1381G>T	c.(1381-1383)GAA>TAA	p.E461*		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	461	Peptidase M12B.					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				0.37037	27.341544	27.740733	10	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43858522	43858522	267	12	C	A	A	A	390	30	ADAMTS20	5	2
SFRS2IP	9169	broad.mit.edu	37	12	46342248	46342248	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46342248A>C	uc001rox.2	-	c.370T>G	c.(370-372)TGT>GGT	p.C124G	SFRS2IP_uc001roy.1_Missense_Mutation_p.C198G	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	124					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)										0.388889	45.342484	45.731706	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46342248	46342248	14667	12	A	C	C	C	91	7	SFRS2IP	4	4
PRPF40B	25766	broad.mit.edu	37	12	50037160	50037160	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50037160C>T	uc001rur.1	+	c.2297C>T	c.(2296-2298)TCC>TTC	p.S766F	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.S787F|PRPF40B_uc001ruq.1_Missense_Mutation_p.S753F|PRPF40B_uc001rus.1_Missense_Mutation_p.S708F|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	766					mRNA processing|RNA splicing	nuclear speck				ovary(1)|kidney(1)|pancreas(1)	3														0.441176	89.332091	89.537079	30	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50037160	50037160	13015	12	C	T	T	T	390	30	PRPF40B	2	2
KRT71	112802	broad.mit.edu	37	12	52941958	52941958	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52941958G>T	uc001sao.2	-	c.956C>A	c.(955-957)GCT>GAT	p.A319D		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	319	Coil 2.|Rod.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.146341	9.722058	14.652467	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52941958	52941958	8799	12	G	T	T	T	442	34	KRT71	2	2
HOXC13	3229	broad.mit.edu	37	12	54338921	54338921	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54338921C>G	uc001sei.2	+	c.874C>G	c.(874-876)CGC>GGC	p.R292G	HOXC13_uc010sop.1_Non-coding_Transcript	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	292	Homeobox.				regulation of transcription, DNA-dependent	nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0										22				0.391304	50.615228	51.097054	18	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54338921	54338921	7604	12	C	G	G	G	351	27	HOXC13	3	3
B4GALNT1	2583	broad.mit.edu	37	12	58024791	58024791	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58024791A>T	uc001spg.1	-	c.462T>A	c.(460-462)GTT>GTA	p.V154V	B4GALNT1_uc010sru.1_Silent_p.V99V|B4GALNT1_uc010srv.1_Silent_p.V154V|B4GALNT1_uc001sph.2_Silent_p.V154V|B4GALNT1_uc001spi.2_Silent_p.V154V	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	154	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)											0.382353	32.930067	33.354204	13	21	KEEP	---	---	---	---	capture		Silent	SNP	58024791	58024791	1287	12	A	T	T	T	106	9	B4GALNT1	3	3
BEST3	144453	broad.mit.edu	37	12	70049458	70049458	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70049458G>T	uc001svg.2	-	c.1236C>A	c.(1234-1236)AGC>AGA	p.S412R	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S199R|BEST3_uc010stm.1_Missense_Mutation_p.S306R	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	412	Cytoplasmic (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)											0.451613	82.789235	82.915976	28	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70049458	70049458	1429	12	G	T	T	T	438	34	BEST3	2	2
TRHDE	29953	broad.mit.edu	37	12	73056892	73056892	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:73056892G>C	uc001sxa.2	+	c.2992G>C	c.(2992-2994)GAA>CAA	p.E998Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	998	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)	2														0.513514	64.225659	64.231531	19	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73056892	73056892	17023	12	G	C	C	C	533	41	TRHDE	3	3
DCN	1634	broad.mit.edu	37	12	91539908	91539908	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91539908T>A	uc001tbs.2	-	c.1007A>T	c.(1006-1008)TAC>TTC	p.Y336F	DCN_uc001tbo.2_Missense_Mutation_p.Y227F|DCN_uc001tbp.2_Missense_Mutation_p.Y189F|DCN_uc001tbq.2_Missense_Mutation_p.Y149F|DCN_uc001tbr.2_3'UTR|DCN_uc001tbt.2_Missense_Mutation_p.Y336F|DCN_uc001tbu.2_Missense_Mutation_p.Y336F	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	336	LRR 12.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4														0.1	4.443192	12.429325	5	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91539908	91539908	4468	12	T	A	A	A	741	57	DCN	3	3
KDELC1	79070	broad.mit.edu	37	13	103443386	103443386	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103443386T>A	uc001vpq.3	-	c.948A>T	c.(946-948)AGA>AGT	p.R316S	KDELC1_uc001vpr.3_Missense_Mutation_p.R97S	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	316						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.319149	35.675355	37.06095	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103443386	103443386	8423	13	T	A	A	A	751	58	KDELC1	3	3
SLC10A2	6555	broad.mit.edu	37	13	103718307	103718307	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103718307A>G	uc001vpy.3	-	c.293T>C	c.(292-294)GTA>GCA	p.V98A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	98	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)													0.191781	33.641534	40.093929	14	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103718307	103718307	14869	13	A	G	G	G	182	14	SLC10A2	4	4
MYO16	23026	broad.mit.edu	37	13	109318301	109318301	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109318301C>A	uc010agk.1	+	c.96C>A	c.(94-96)TCC>TCA	p.S32S	MYO16_uc001vqt.1_Silent_p.S10S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	10					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.393939	37.267221	37.592355	13	20	KEEP	---	---	---	---	capture		Silent	SNP	109318301	109318301	10459	13	C	A	A	A	275	22	MYO16	2	2
FAM123A	219287	broad.mit.edu	37	13	25744194	25744194	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25744194C>A	uc001uqb.2	-	c.1564G>T	c.(1564-1566)GAG>TAG	p.E522*	FAM123A_uc001uqa.2_Nonsense_Mutation_p.E403*|FAM123A_uc001uqc.2_Nonsense_Mutation_p.E403*	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	522										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)										0.431818	57.764389	57.931931	19	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25744194	25744194	5619	13	C	A	A	A	403	31	FAM123A	5	1
GPR12	2835	broad.mit.edu	37	13	27333191	27333191	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27333191C>A	uc010aal.2	-	c.774G>T	c.(772-774)GGG>GGT	p.G258G	GPR12_uc010tdl.1_Silent_p.G99G	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	258	Helical; Name=6; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)										0.461538	33.420235	33.450208	12	14	KEEP	---	---	---	---	capture		Silent	SNP	27333191	27333191	6909	13	C	A	A	A	379	30	GPR12	2	2
POLR1D	51082	broad.mit.edu	37	13	28240074	28240074	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28240074G>T	uc001urp.2	+	c.353G>T	c.(352-354)CGG>CTG	p.R118L	POLR1D_uc010aam.2_Missense_Mutation_p.R90L|POLR1D_uc001urq.2_Non-coding_Transcript	NM_152705	NP_689918	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 2	Error:Variant_position_missing_in_Q9Y2S0_after_alignment					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)										0.314286	30.232804	31.296079	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28240074	28240074	12640	13	G	T	T	T	507	39	POLR1D	1	1
TRPC4	7223	broad.mit.edu	37	13	38225483	38225483	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38225483G>A	uc010abx.2	-	c.1998C>T	c.(1996-1998)CTC>CTT	p.L666L	TRPC4_uc010abv.2_Silent_p.L246L|TRPC4_uc001uwt.2_Silent_p.L666L|TRPC4_uc001uws.2_Silent_p.L666L|TRPC4_uc010tey.1_Silent_p.L666L|TRPC4_uc010abw.2_Silent_p.L493L|TRPC4_uc010aby.2_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	666	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.127273	9.621249	17.047418	7	48	KEEP	---	---	---	---	capture		Silent	SNP	38225483	38225483	17131	13	G	A	A	A	418	33	TRPC4	2	2
DACH1	1602	broad.mit.edu	37	13	72049302	72049302	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72049302C>A	uc010thn.1	-	c.2054G>T	c.(2053-2055)GGC>GTC	p.G685V	DACH1_uc010tho.1_Missense_Mutation_p.G537V|DACH1_uc010thp.1_Missense_Mutation_p.G483V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	737					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.346154	50.681919	51.746522	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72049302	72049302	4386	13	C	A	A	A	338	26	DACH1	2	2
DACH1	1602	broad.mit.edu	37	13	72146989	72146989	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72146989C>G	uc010thn.1	-	c.1282G>C	c.(1282-1284)GAG>CAG	p.E428Q	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	480					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.044118	-8.623804	6.499633	3	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72146989	72146989	4386	13	C	G	G	G	377	29	DACH1	3	3
STK24	8428	broad.mit.edu	37	13	99127110	99127110	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99127110G>A	uc001vnm.1	-	c.598C>T	c.(598-600)CCC>TCC	p.P200S	STK24_uc001vnn.1_Missense_Mutation_p.P188S|STK24_uc010tim.1_Missense_Mutation_p.P169S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	200	Protein kinase.				cellular component disassembly involved in apoptosis|protein phosphorylation|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)											0.255814	53.903211	58.562638	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99127110	99127110	15813	13	G	A	A	A	572	44	STK24	2	2
OR4Q3	441669	broad.mit.edu	37	14	20215940	20215940	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20215940C>A	uc010tkt.1	+	c.354C>A	c.(352-354)GTC>GTA	p.V118V		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.197674	38.032882	45.347295	17	69	KEEP	---	---	---	---	capture		Silent	SNP	20215940	20215940	11491	14	C	A	A	A	366	29	OR4Q3	2	2
OR4N2	390429	broad.mit.edu	37	14	20295622	20295622	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20295622C>A	uc010tkv.1	+	c.15C>A	c.(13-15)AAC>AAA	p.N5K		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.236842	96.673695	106.259324	36	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20295622	20295622	11487	14	C	A	A	A	220	17	OR4N2	2	2
OR11G2	390439	broad.mit.edu	37	14	20666456	20666456	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20666456C>A	uc010tlb.1	+	c.962C>A	c.(961-963)CCA>CAA	p.P321Q		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	321	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.283951	60.310225	63.694106	23	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20666456	20666456	11331	14	C	A	A	A	273	21	OR11G2	2	2
OR11H6	122748	broad.mit.edu	37	14	20692663	20692663	+	Silent	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20692663G>C	uc010tlc.1	+	c.795G>C	c.(793-795)GTG>GTC	p.V265V		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	265	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)										0.405405	89.231476	89.810658	30	44	KEEP	---	---	---	---	capture		Silent	SNP	20692663	20692663	11335	14	G	C	C	C	600	47	OR11H6	3	3
RNASE3	6037	broad.mit.edu	37	14	21359949	21359949	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21359949C>A	uc001vyj.2	+	c.104C>A	c.(103-105)GCT>GAT	p.A35D		NM_002935	NP_002926	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3 (eosinophil	35					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)									0.340659	76.723689	78.801793	31	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21359949	21359949	13882	14	C	A	A	A	364	28	RNASE3	2	2
RPGRIP1	57096	broad.mit.edu	37	14	21795831	21795831	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21795831A>T	uc001wag.2	+	c.2760A>T	c.(2758-2760)CAA>CAT	p.Q920H	RPGRIP1_uc001wah.2_Missense_Mutation_p.Q562H|RPGRIP1_uc001wai.2_Missense_Mutation_p.Q246H|RPGRIP1_uc001wak.2_Missense_Mutation_p.Q395H|RPGRIP1_uc010aim.2_Missense_Mutation_p.Q303H|RPGRIP1_uc001wal.2_Missense_Mutation_p.Q279H|RPGRIP1_uc001wam.2_Missense_Mutation_p.Q237H	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	920					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)						1408				0.38	57.714635	58.345664	19	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21795831	21795831	14028	14	A	T	T	T	37	3	RPGRIP1	3	3
EFS	10278	broad.mit.edu	37	14	23828659	23828659	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23828659C>A	uc001wjo.2	-	c.1028G>T	c.(1027-1029)CGC>CTC	p.R343L	EFS_uc001wjp.2_Missense_Mutation_p.R250L|EFS_uc010tnm.1_Missense_Mutation_p.R174L	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	343	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)										0.203704	25.717973	30.102196	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23828659	23828659	5148	14	C	A	A	A	351	27	EFS	1	1
MYH7	4625	broad.mit.edu	37	14	23884706	23884706	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23884706G>T	uc001wjx.2	-	c.5167C>A	c.(5167-5169)CTC>ATC	p.L1723I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1723	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.265306	32.948214	35.391098	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23884706	23884706	10434	14	G	T	T	T	455	35	MYH7	2	2
FOXG1	2290	broad.mit.edu	37	14	29237064	29237064	+	Silent	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237064C>G	uc001wqe.2	+	c.579C>G	c.(577-579)GCC>GCG	p.A193A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	193	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|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(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.333333	27.106429	27.922046	11	22	KEEP	---	---	---	---	capture		Silent	SNP	29237064	29237064	6252	14	C	G	G	G	262	21	FOXG1	3	3
FOXG1	2290	broad.mit.edu	37	14	29237494	29237494	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237494C>A	uc001wqe.2	+	c.1009C>A	c.(1009-1011)CAC>AAC	p.H337N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	337					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|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(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.241935	70.307297	77.830041	30	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237494	29237494	6252	14	C	A	A	A	273	21	FOXG1	2	2
RPL10L	140801	broad.mit.edu	37	14	47120456	47120456	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120456G>T	uc001wwg.2	-	c.484C>A	c.(484-486)CGC>AGC	p.R162S		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.403509	68.797367	69.264128	23	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47120456	47120456	14035	14	G	T	T	T	520	40	RPL10L	1	1
OTUB2	78990	broad.mit.edu	37	14	94510400	94510400	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94510400C>T	uc001yci.2	+	c.302C>T	c.(301-303)GCT>GTT	p.A101V		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	101	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)										0.419355	119.903577	120.427586	39	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94510400	94510400	11724	14	C	T	T	T	364	28	OTUB2	2	2
OR4M2	390538	broad.mit.edu	37	15	22369380	22369380	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22369380C>A	uc010tzu.1	+	c.805C>A	c.(805-807)CTA>ATA	p.L269I	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.134078	32.473391	55.732797	24	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22369380	22369380	11486	15	C	A	A	A	311	24	OR4M2	2	2
TUBGCP5	114791	broad.mit.edu	37	15	22864307	22864307	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22864307G>T	uc001yuq.2	+	c.2265G>T	c.(2263-2265)GTG>GTT	p.V755V	TUBGCP5_uc001yur.3_Silent_p.V755V	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	755					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding				0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)										0.155556	14.095863	19.194188	7	38	KEEP	---	---	---	---	capture		Silent	SNP	22864307	22864307	17324	15	G	T	T	T	613	48	TUBGCP5	2	2
APBA2	321	broad.mit.edu	37	15	29346220	29346220	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:29346220G>T	uc001zck.2	+	c.133G>T	c.(133-135)GGC>TGC	p.G45C	APBA2_uc010azj.2_Missense_Mutation_p.G45C|APBA2_uc010uat.1_Missense_Mutation_p.G45C|APBA2_uc001zcl.2_Missense_Mutation_p.G45C|APBA2_uc010uas.1_Missense_Mutation_p.G45C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	45					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)										0.128205	6.186741	11.408237	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29346220	29346220	767	15	G	T	T	T	559	43	APBA2	2	2
RYR3	6263	broad.mit.edu	37	15	33895391	33895391	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33895391C>A	uc001zhi.2	+	c.1990C>A	c.(1990-1992)CTG>ATG	p.L664M	RYR3_uc010bar.2_Missense_Mutation_p.L664M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	664	Cytoplasmic (By similarity).|B30.2/SPRY 1.				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)										0.133929	19.898723	34.422788	15	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33895391	33895391	14250	15	C	A	A	A	363	28	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34113753	34113753	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34113753C>A	uc001zhi.2	+	c.10945C>A	c.(10945-10947)CTG>ATG	p.L3649M	RYR3_uc010bar.2_Missense_Mutation_p.L3644M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3649					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)										0.185185	9.758764	12.269073	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34113753	34113753	14250	15	C	A	A	A	363	28	RYR3	2	2
ZNF770	54989	broad.mit.edu	37	15	35273923	35273923	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35273923G>A	uc001ziw.2	-	c.1713C>T	c.(1711-1713)GTC>GTT	p.V571V		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)										0.158621	44.429163	60.541533	23	122	KEEP	---	---	---	---	capture		Silent	SNP	35273923	35273923	18741	15	G	A	A	A	418	33	ZNF770	2	2
PAK6	56924	broad.mit.edu	37	15	40564712	40564712	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40564712A>T	uc010bbl.2	+	c.1146A>T	c.(1144-1146)ACA>ACT	p.T382T	PAK6_uc010bbm.2_Silent_p.T382T|PAK6_uc001zky.3_Silent_p.T382T|PAK6_uc010bbn.2_Silent_p.T382T|PAK6_uc001zlb.2_Silent_p.T382T	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	382	Linker.				protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|large_intestine(1)|ovary(1)	5		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)						94				0.217391	11.277809	12.960779	5	18	KEEP	---	---	---	---	capture		Silent	SNP	40564712	40564712	11820	15	A	T	T	T	80	7	PAK6	3	3
C15orf43	145645	broad.mit.edu	37	15	45253761	45253761	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45253761C>A	uc001zuk.2	+	c.327C>A	c.(325-327)GAC>GAA	p.D109E		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	109											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)										0.176471	26.460227	33.166064	12	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45253761	45253761	1847	15	C	A	A	A	233	18	C15orf43	2	2
TCF12	6938	broad.mit.edu	37	15	57544626	57544626	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:57544626G>T	uc002aea.2	+	c.1196G>T	c.(1195-1197)CGA>CTA	p.R399L	TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.R395L|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R399L|TCF12_uc002aec.2_Intron|TCF12_uc002aed.2_Intron|TCF12_uc002aee.2_Intron|TCF12_uc010bft.2_Missense_Mutation_p.R229L|TCF12_uc010ugo.1_Intron|TCF12_uc010ugp.1_Missense_Mutation_p.R33L|TCF12_uc010ugq.1_Intron|TCF12_uc010ugr.1_5'UTR	NM_207036	NP_996919	Q99081	HTF4_HUMAN	transcription factor 12 isoform a	396					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)						335				0.410256	50.595208	50.868908	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57544626	57544626	16213	15	G	T	T	T	481	37	TCF12	1	1
MYO1E	4643	broad.mit.edu	37	15	59553681	59553681	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59553681C>A	uc002aga.2	-	c.175G>T	c.(175-177)GTC>TTC	p.V59F		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	59	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)										0.307692	64.857073	67.437975	24	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59553681	59553681	10467	15	C	A	A	A	260	20	MYO1E	2	2
TLE3	7090	broad.mit.edu	37	15	70358421	70358421	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70358421C>A	uc002asl.2	-	c.524G>T	c.(523-525)GGC>GTC	p.G175V	TLE3_uc002ask.2_Missense_Mutation_p.G114V|TLE3_uc010ukd.1_Missense_Mutation_p.G163V|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.G170V|TLE3_uc002asn.2_Missense_Mutation_p.G170V|TLE3_uc002asm.2_Missense_Mutation_p.G170V|TLE3_uc002asp.2_Missense_Mutation_p.G170V|TLE3_uc002aso.2_Missense_Mutation_p.G170V|TLE3_uc010bim.1_Non-coding_Transcript	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform b	170	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding				0														0.333333	22.573025	23.233748	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70358421	70358421	16470	15	C	A	A	A	338	26	TLE3	2	2
AP3B2	8120	broad.mit.edu	37	15	83333195	83333195	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83333195C>A	uc010uoi.1	-	c.2185G>T	c.(2185-2187)GGC>TGC	p.G729C	AP3B2_uc010uoh.1_Missense_Mutation_p.G710C|AP3B2_uc010uoj.1_Missense_Mutation_p.G678C|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.G346C|AP3B2_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	710	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.25	13.767168	14.902108	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83333195	83333195	755	15	C	A	A	A	299	23	AP3B2	1	1
UNC45A	55898	broad.mit.edu	37	15	91489890	91489890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91489890C>T	uc002bqg.2	+	c.1246C>T	c.(1246-1248)CAG>TAG	p.Q416*	UNC45A_uc002bqd.2_Nonsense_Mutation_p.Q401*|UNC45A_uc010uqr.1_5'Flank|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	416					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)											0.235294	9.991741	11.081188	4	13	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	91489890	91489890	17546	15	C	T	T	T	273	21	UNC45A	5	2
TPSD1	23430	broad.mit.edu	37	16	1306527	1306527	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1306527G>T	uc002clb.1	+	c.93G>T	c.(91-93)CAG>CAT	p.Q31H	TPSD1_uc010brm.1_De_novo_Start_OutOfFrame	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	31					proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)												0.246377	42.167239	46.190633	17	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1306527	1306527	16969	16	G	T	T	T	451	35	TPSD1	2	2
DNAH3	55567	broad.mit.edu	37	16	21011740	21011740	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21011740G>C	uc010vbe.1	-	c.6227C>G	c.(6226-6228)ACA>AGA	p.T2076R		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2076	AAA 3 (By similarity).|ATP (Potential).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.307692	33.582748	34.870289	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21011740	21011740	4786	16	G	C	C	C	624	48	DNAH3	3	3
SCNN1B	6338	broad.mit.edu	37	16	23364156	23364156	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23364156G>T	uc002dln.2	+	c.346G>T	c.(346-348)GAT>TAT	p.D116Y		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	116	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)									0.382353	69.826466	70.65398	26	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23364156	23364156	14410	16	G	T	T	T	533	41	SCNN1B	2	2
ARHGAP17	55114	broad.mit.edu	37	16	24981854	24981854	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24981854C>A	uc002dnb.2	-	c.246G>T	c.(244-246)TCG>TCT	p.S82S	ARHGAP17_uc002dnc.2_Silent_p.S82S|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_5'Flank|ARHGAP17_uc002dng.1_Silent_p.S82S	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	82	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)										0.260664	153.283176	164.188391	55	156	KEEP	---	---	---	---	capture		Silent	SNP	24981854	24981854	878	16	C	A	A	A	392	31	ARHGAP17	1	1
KIAA0556	23247	broad.mit.edu	37	16	27751579	27751579	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27751579A>G	uc002dow.2	+	c.1961A>G	c.(1960-1962)GAG>GGG	p.E654G		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	654										ovary(4)|large_intestine(2)	6														0.157895	20.065392	26.403513	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27751579	27751579	8490	16	A	G	G	G	143	11	KIAA0556	4	4
KIAA0556	23247	broad.mit.edu	37	16	27761018	27761018	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27761018C>T	uc002dow.2	+	c.2737C>T	c.(2737-2739)CGC>TGC	p.R913C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	913										ovary(4)|large_intestine(2)	6														0.371429	72.779124	73.776114	26	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27761018	27761018	8490	16	C	T	T	T	247	19	KIAA0556	1	1
PRSS21	10942	broad.mit.edu	37	16	2868692	2868692	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2868692G>C	uc002crt.2	+	c.272G>C	c.(271-273)AGT>ACT	p.S91T	PRSS21_uc002crs.2_Missense_Mutation_p.S89T|PRSS21_uc002crr.2_Missense_Mutation_p.S91T	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	91	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.246154	40.772669	44.583973	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2868692	2868692	13068	16	G	C	C	C	468	36	PRSS21	3	3
SEZ6L2	26470	broad.mit.edu	37	16	29889672	29889672	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29889672C>A	uc010vec.1	-	c.1648G>T	c.(1648-1650)GGC>TGC	p.G550C	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G480C|SEZ6L2_uc002dur.3_Missense_Mutation_p.G480C|SEZ6L2_uc002duq.3_Missense_Mutation_p.G550C|SEZ6L2_uc002dus.3_Missense_Mutation_p.G436C|SEZ6L2_uc010ved.1_Missense_Mutation_p.G506C	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	550	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)	1														0.219512	18.065037	21.033219	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29889672	29889672	14633	16	C	A	A	A	286	22	SEZ6L2	2	2
FBXL19	54620	broad.mit.edu	37	16	30941500	30941500	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30941500G>T	uc002eab.2	+	c.956G>T	c.(955-957)CGG>CTG	p.R319L	FBXL19_uc002dzz.1_Missense_Mutation_p.R7L|FBXL19_uc002eaa.1_Missense_Mutation_p.R218L	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	319							DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.293103	46.645213	48.873597	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30941500	30941500	5952	16	G	T	T	T	507	39	FBXL19	1	1
ITGAD	3681	broad.mit.edu	37	16	31422671	31422671	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31422671G>T	uc010cap.1	+	c.1543G>T	c.(1543-1545)GGC>TGC	p.G515C	ITGAD_uc002ebv.1_Missense_Mutation_p.G514C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	514	FG-GAP 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.307143	111.466588	116.113454	43	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31422671	31422671	8188	16	G	T	T	T	559	43	ITGAD	2	2
SLC5A2	6524	broad.mit.edu	37	16	31500068	31500068	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31500068G>A	uc002ecf.3	+	c.1255G>A	c.(1255-1257)GAC>AAC	p.D419N	SLC5A2_uc010car.2_Intron|C16orf58_uc002ecg.2_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	419	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1														0.416667	27.344664	27.490123	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31500068	31500068	15162	16	G	A	A	A	481	37	SLC5A2	1	1
NLRC3	197358	broad.mit.edu	37	16	3600416	3600416	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3600416C>T	uc010btn.2	-	c.2433G>A	c.(2431-2433)CTG>CTA	p.L811L	NLRC3_uc010bto.1_Silent_p.L76L	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	811	LRR 8.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6														0.322581	28.438488	29.305281	10	21	KEEP	---	---	---	---	capture		Silent	SNP	3600416	3600416	10871	16	C	T	T	T	262	21	NLRC3	2	2
WDR90	197335	broad.mit.edu	37	16	712767	712767	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:712767A>T	uc002cii.1	+	c.4234A>T	c.(4234-4236)ACC>TCC	p.T1412S	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.T939S|WDR90_uc002cil.1_Intron|WDR90_uc002cim.1_Missense_Mutation_p.T588S|WDR90_uc002cin.1_Missense_Mutation_p.T27S|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1412										ovary(1)	1		Hepatocellular(780;0.0218)												0.291667	18.836782	19.757217	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	712767	712767	17911	16	A	T	T	T	78	6	WDR90	3	3
A2BP1	54715	broad.mit.edu	37	16	7568325	7568325	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:7568325C>A	uc010uxz.1	+	c.333C>A	c.(331-333)CCC>CCA	p.P111P	A2BP1_uc010buf.1_Silent_p.P68P|A2BP1_uc002cyr.1_Silent_p.P68P|A2BP1_uc002cys.2_Silent_p.P68P|A2BP1_uc002cyt.2_Silent_p.P68P|A2BP1_uc010uya.1_Silent_p.P104P|A2BP1_uc002cyv.1_Silent_p.P68P|A2BP1_uc010uyb.1_Silent_p.P68P|A2BP1_uc002cyw.2_Silent_p.P88P|A2BP1_uc002cyy.2_Silent_p.P88P|A2BP1_uc002cyx.2_Silent_p.P88P|A2BP1_uc010uyc.1_Silent_p.P88P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	68					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)										0.327273	155.01521	159.370042	54	111	KEEP	---	---	---	---	capture		Silent	SNP	7568325	7568325	3	16	C	A	A	A	288	23	A2BP1	1	1
RAI1	10743	broad.mit.edu	37	17	17701461	17701461	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17701461G>T	uc002grm.2	+	c.5199G>T	c.(5197-5199)TCG>TCT	p.S1733S	RAI1_uc002grn.1_Silent_p.S1733S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1733						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(1115;0.0276)										0.309524	34.739433	36.109811	13	29	KEEP	---	---	---	---	capture		Silent	SNP	17701461	17701461	13467	17	G	T	T	T	483	38	RAI1	1	1
CYTSB	92521	broad.mit.edu	37	17	20000015	20000015	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20000015C>T	uc002gwq.2	+	c.51C>T	c.(49-51)CAC>CAT	p.H17H	CYTSB_uc010cqx.2_Silent_p.H17H|CYTSB_uc002gwr.2_Silent_p.H17H|CYTSB_uc002gws.2_Silent_p.H17H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	17						nucleus					0														0.0625	-9.480989	16.0335	8	120	KEEP	---	---	---	---	capture		Silent	SNP	20000015	20000015	4375	17	C	T	T	T	246	19	CYTSB	1	1
KCNJ12	3768	broad.mit.edu	37	17	21319719	21319719	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21319719C>A	uc002gyv.1	+	c.1065C>A	c.(1063-1065)CCC>CCA	p.P355P		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	355	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.180723	30.579209	38.530215	15	68	KEEP	---	---	---	---	capture		Silent	SNP	21319719	21319719	8351	17	C	A	A	A	275	22	KCNJ12	2	2
EFCAB5	374786	broad.mit.edu	37	17	28380557	28380557	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28380557G>T	uc002het.2	+	c.1585G>T	c.(1585-1587)GGC>TGC	p.G529C	EFCAB5_uc010wbi.1_Missense_Mutation_p.G272C|EFCAB5_uc010wbj.1_Missense_Mutation_p.G473C|EFCAB5_uc010wbk.1_Missense_Mutation_p.G186C|EFCAB5_uc010csd.2_Non-coding_Transcript|EFCAB5_uc010cse.2_Missense_Mutation_p.G408C|EFCAB5_uc010csf.2_Missense_Mutation_p.G408C	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	529							calcium ion binding			ovary(1)|skin(1)	2														0.30303	25.330754	26.478023	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28380557	28380557	5125	17	G	T	T	T	455	35	EFCAB5	2	2
FAM101B	359845	broad.mit.edu	37	17	293213	293213	+	Silent	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:293213C>G	uc002frj.2	-	c.177G>C	c.(175-177)GCG>GCC	p.A59A		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	129											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)										0.48	68.261262	68.279986	24	26	KEEP	---	---	---	---	capture		Silent	SNP	293213	293213	5578	17	C	G	G	G	288	23	FAM101B	3	3
SLFN11	91607	broad.mit.edu	37	17	33690157	33690157	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33690157G>T	uc010ctp.2	-	c.670C>A	c.(670-672)CAA>AAA	p.Q224K	SLFN11_uc010ctq.2_Missense_Mutation_p.Q224K|SLFN11_uc002hjh.3_Missense_Mutation_p.Q224K|SLFN11_uc002hjg.3_Missense_Mutation_p.Q224K|SLFN11_uc010ctr.2_Missense_Mutation_p.Q224K	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	224						nucleus	ATP binding			large_intestine(1)|ovary(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.273381	104.997594	111.424665	38	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33690157	33690157	15230	17	G	T	T	T	611	47	SLFN11	2	2
KRT39	390792	broad.mit.edu	37	17	39119941	39119941	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39119941G>T	uc002hvo.1	-	c.646C>A	c.(646-648)CTA>ATA	p.L216I	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	216	Rod.|Coil 1B.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)												0.235294	45.109237	50.610005	20	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39119941	39119941	8791	17	G	T	T	T	451	35	KRT39	2	2
HAP1	9001	broad.mit.edu	37	17	39888998	39888998	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39888998G>T	uc002hxm.1	-	c.522C>A	c.(520-522)GTC>GTA	p.V174V	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.V174V|HAP1_uc002hxo.1_Silent_p.V174V|HAP1_uc002hxp.1_Silent_p.V174V	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	174	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)											0.246753	42.292528	46.786445	19	58	KEEP	---	---	---	---	capture		Silent	SNP	39888998	39888998	7235	17	G	T	T	T	574	45	HAP1	2	2
STAT5B	6777	broad.mit.edu	37	17	40364013	40364013	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40364013G>A	uc002hzh.2	-	c.1669C>T	c.(1669-1671)CAG>TAG	p.Q557*		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	557					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)	5		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)					288				0.285714	10.093061	10.670735	4	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40364013	40364013	15789	17	G	A	A	A	611	47	STAT5B	5	2
MAP3K14	9020	broad.mit.edu	37	17	43368045	43368045	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43368045G>A	uc002iiw.1	-	c.67C>T	c.(67-69)CCC>TCC	p.P23S	MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	23					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein phosphorylation|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|ovary(1)|lung(1)	5										697				0.341463	41.240911	42.149886	14	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43368045	43368045	9631	17	G	A	A	A	559	43	MAP3K14	2	2
OSBPL7	114881	broad.mit.edu	37	17	45895647	45895647	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45895647G>A	uc002ilx.1	-	c.586C>T	c.(586-588)CGC>TGC	p.R196C	OSBPL7_uc002ilw.1_5'Flank	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	196					lipid transport		lipid binding				0														0.238806	35.966184	40.153705	16	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45895647	45895647	11693	17	G	A	A	A	507	39	OSBPL7	1	1
HOXB3	3213	broad.mit.edu	37	17	46628425	46628425	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46628425C>A	uc002inn.2	-	c.567G>T	c.(565-567)AAG>AAT	p.K189N	HOXB3_uc010wlm.1_Missense_Mutation_p.K116N|HOXB3_uc010dbf.2_Missense_Mutation_p.K189N|HOXB3_uc010dbg.2_Missense_Mutation_p.K189N|HOXB3_uc002ino.2_Missense_Mutation_p.K189N|HOXB3_uc010wlk.1_Missense_Mutation_p.K57N|HOXB3_uc010wll.1_Missense_Mutation_p.K116N	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	189	Homeobox.				angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.2	29.43602	35.277152	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46628425	46628425	7594	17	C	A	A	A	363	28	HOXB3	2	2
KIF2B	84643	broad.mit.edu	37	17	51900813	51900813	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51900813G>C	uc002iua.2	+	c.419G>C	c.(418-420)TGT>TCT	p.C140S		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	140					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														0.291139	65.406746	68.486116	23	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51900813	51900813	8609	17	G	C	C	C	624	48	KIF2B	3	3
TRIM25	7706	broad.mit.edu	37	17	54969341	54969341	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54969341G>A	uc002iut.2	-	c.1613C>T	c.(1612-1614)CCA>CTA	p.P538L	TRIM25_uc010dcj.2_Missense_Mutation_p.P330L	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	538	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)													0.285714	81.314381	85.636392	30	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54969341	54969341	17043	17	G	A	A	A	611	47	TRIM25	2	2
C17orf47	284083	broad.mit.edu	37	17	56620524	56620524	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56620524G>T	uc002iwq.1	-	c.1024C>A	c.(1024-1026)CAG>AAG	p.Q342K	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	342										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.190476	17.980853	21.738277	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56620524	56620524	1914	17	G	T	T	T	624	48	C17orf47	2	2
TBX4	9496	broad.mit.edu	37	17	59560841	59560841	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59560841A>T	uc010ddo.2	+	c.1605A>T	c.(1603-1605)TCA>TCT	p.S535S	TBX4_uc002izi.2_Silent_p.S534S|TBX4_uc010woy.1_Silent_p.S535S	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	534					leg morphogenesis|regulation of transcription, DNA-dependent|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.4	58.041769	58.435144	18	27	KEEP	---	---	---	---	capture		Silent	SNP	59560841	59560841	16186	17	A	T	T	T	80	7	TBX4	3	3
MRC2	9902	broad.mit.edu	37	17	60743900	60743900	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60743900G>T	uc002jad.2	+	c.779G>T	c.(778-780)AGG>ATG	p.R260M	MRC2_uc002jac.2_Missense_Mutation_p.R260M	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	260	Extracellular (Potential).|C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.25	10.436654	11.601985	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60743900	60743900	10150	17	G	T	T	T	455	35	MRC2	2	2
DNAI2	64446	broad.mit.edu	37	17	72277987	72277987	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72277987C>A	uc002jkf.2	+	c.31C>A	c.(31-33)CGC>AGC	p.R11S	DNAI2_uc002jkg.2_Non-coding_Transcript|DNAI2_uc010dfp.2_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	11					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3														0.3	49.272822	51.391564	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72277987	72277987	4793	17	C	A	A	A	351	27	DNAI2	1	1
GRB2	2885	broad.mit.edu	37	17	73316501	73316501	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73316501T>A	uc002jnx.3	-	c.602A>T	c.(601-603)CAG>CTG	p.Q201L	GRB2_uc002jny.3_Missense_Mutation_p.Q160L	NM_002086	NP_002077	P62993	GRB2_HUMAN	growth factor receptor-bound protein 2 isoform	201	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			ovary(3)	3	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)					123				0.238372	105.784077	116.555115	41	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73316501	73316501	7035	17	T	A	A	A	715	55	GRB2	3	3
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577565T>C	uc002gim.2	-	c.716A>G	c.(715-717)AAC>AGC	p.N239S	TP53_uc002gig.1_Missense_Mutation_p.N239S|TP53_uc002gih.2_Missense_Mutation_p.N239S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.N107S|TP53_uc010cng.1_Missense_Mutation_p.N107S|TP53_uc002gii.1_Missense_Mutation_p.N107S|TP53_uc010cnh.1_Missense_Mutation_p.N239S|TP53_uc010cni.1_Missense_Mutation_p.N239S|TP53_uc002gij.2_Missense_Mutation_p.N239S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.N146S|TP53_uc002gio.2_Missense_Mutation_p.N107S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	239	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		N -> Y (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.N239S(19)|p.0?(6)|p.N239T(4)|p.N239_C242delNSSC(3)|p.N239_S240delNS(2)|p.N239_C242>S(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.C238fs(SW1417-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.421053	26.697002	26.800305	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577565	7577565	16923	17	T	C	C	C	780	60	TP53	4	4
ENGASE	64772	broad.mit.edu	37	17	77079627	77079627	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77079627G>T	uc002jwv.2	+	c.1206G>T	c.(1204-1206)ACG>ACT	p.T402T	ENGASE_uc002jww.2_Silent_p.T108T	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	402						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity				0														0.162162	12.45515	16.447226	6	31	KEEP	---	---	---	---	capture		Silent	SNP	77079627	77079627	5311	17	G	T	T	T	509	40	ENGASE	1	1
CBX4	8535	broad.mit.edu	37	17	77807939	77807939	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77807939G>A	uc002jxe.2	-	c.1502C>T	c.(1501-1503)GCG>GTG	p.A501V		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	501	Poly-Ala.				anti-apoptosis|chromatin assembly or disassembly|chromatin modification|transcription, DNA-dependent	chromatin|Golgi apparatus|nucleus	enzyme binding|transcription corepressor activity				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.125	6.826756	13.414303	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77807939	77807939	2839	17	G	A	A	A	494	38	CBX4	1	1
SLC16A3	9123	broad.mit.edu	37	17	80194624	80194624	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80194624C>A	uc002kea.2	+	c.243C>A	c.(241-243)TGC>TGA	p.C81*	SLC16A3_uc002kee.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002keb.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002kec.2_Nonsense_Mutation_p.C81*|SLC16A3_uc002ked.2_Nonsense_Mutation_p.C81*	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	81	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			lung(1)	1	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	Pancreas(52;652 1135 19190 37282 52456)				140		OREG0024821	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.313433	57.7531	59.827567	21	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	80194624	80194624	14905	17	C	A	A	A	350	27	SLC16A3	5	1
CSNK1D	1453	broad.mit.edu	37	17	80213371	80213371	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80213371C>A	uc002kef.2	-	c.270G>T	c.(268-270)GAG>GAT	p.E90D	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kei.2_Missense_Mutation_p.E90D|CSNK1D_uc002kej.2_Missense_Mutation_p.E90D|CSNK1D_uc010wvj.1_De_novo_Start_OutOfFrame|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	90	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)							44				0.324324	61.69385	63.766212	24	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80213371	80213371	4093	17	C	A	A	A	311	24	CSNK1D	2	2
C17orf59	54785	broad.mit.edu	37	17	8092736	8092736	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8092736G>A	uc010vut.1	-	c.723C>T	c.(721-723)CCC>CCT	p.P241P		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	241	Pro-rich.										0														0.818182	29.88093	30.928102	9	2	KEEP	---	---	---	---	capture		Silent	SNP	8092736	8092736	1924	17	G	A	A	A	444	35	C17orf59	2	2
C18orf34	374864	broad.mit.edu	37	18	30950088	30950088	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30950088G>T	uc010xbr.1	-	c.274C>A	c.(274-276)CCA>ACA	p.P92T	C18orf34_uc002kxn.2_Missense_Mutation_p.P92T|C18orf34_uc010dmf.1_Missense_Mutation_p.P92T|C18orf34_uc002kxo.2_Missense_Mutation_p.P92T|C18orf34_uc002kxp.2_Missense_Mutation_p.P92T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	92										ovary(1)	1														0.5	57.121813	57.121813	19	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30950088	30950088	1963	18	G	T	T	T	533	41	C18orf34	2	2
DLGAP1	9229	broad.mit.edu	37	18	3502601	3502601	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3502601C>A	uc002kmf.2	-	c.2614G>T	c.(2614-2616)GGG>TGG	p.G872W	DLGAP1_uc010wyz.1_Missense_Mutation_p.G872W|DLGAP1_uc002kme.1_Missense_Mutation_p.G570W|DLGAP1_uc010dkn.2_Missense_Mutation_p.G580W|DLGAP1_uc010wyw.1_Missense_Mutation_p.G578W|DLGAP1_uc010wyx.1_Missense_Mutation_p.G594W|DLGAP1_uc010wyy.1_Missense_Mutation_p.G556W|DLGAP1_uc002kmg.2_Missense_Mutation_p.G570W	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	872					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.349206	58.436393	59.697663	22	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3502601	3502601	4739	18	C	A	A	A	286	22	DLGAP1	2	2
SKA1	220134	broad.mit.edu	37	18	47908532	47908532	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47908532G>T	uc002let.2	+	c.247G>T	c.(247-249)GAC>TAC	p.D83Y	SKA1_uc002leu.2_Missense_Mutation_p.D83Y|SKA1_uc010xdl.1_Missense_Mutation_p.D83Y	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	spindle and KT associated 1	83	Potential.				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0														0.238095	11.262844	12.580055	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47908532	47908532	14847	18	G	T	T	T	429	33	SKA1	2	2
TCF4	6925	broad.mit.edu	37	18	52896228	52896228	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:52896228C>A	uc002lga.2	-	c.2035G>T	c.(2035-2037)GAG>TAG	p.E679*	TCF4_uc002lfw.3_Nonsense_Mutation_p.E417*|TCF4_uc010xdu.1_Nonsense_Mutation_p.E443*|TCF4_uc010xdv.1_Nonsense_Mutation_p.E443*|TCF4_uc002lfx.2_Nonsense_Mutation_p.E506*|TCF4_uc010xdw.1_Nonsense_Mutation_p.E443*|TCF4_uc002lfy.2_Nonsense_Mutation_p.E531*|TCF4_uc010xdx.1_Nonsense_Mutation_p.E549*|TCF4_uc002lfz.2_Nonsense_Mutation_p.E573*|TCF4_uc010dph.1_Nonsense_Mutation_p.E577*|TCF4_uc010xdy.1_Nonsense_Mutation_p.E553*|TCF4_uc002lgb.1_Nonsense_Mutation_p.E413*|TCF4_uc010dpi.2_Nonsense_Mutation_p.E583*|TCF4_uc002lfv.2_Nonsense_Mutation_p.E356*	NM_001083962	NP_001077431	P15884	ITF2_HUMAN	transcription factor 4 isoform a	573	Basic motif.				protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|transcription initiation factor activity			ovary(1)	1				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)										0.487179	111.260113	111.270275	38	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52896228	52896228	16221	18	C	A	A	A	416	32	TCF4	5	2
WDR7	23335	broad.mit.edu	37	18	54363593	54363593	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:54363593C>T	uc002lgk.1	+	c.1478C>T	c.(1477-1479)TCA>TTA	p.S493L	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Missense_Mutation_p.S493L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	493	WD 6.									ovary(2)	2				Lung(128;0.0238)|Colorectal(16;0.0296)										0.065574	-2.745863	9.199834	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54363593	54363593	17893	18	C	T	T	T	377	29	WDR7	2	2
CDH19	28513	broad.mit.edu	37	18	64212068	64212068	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:64212068T>C	uc002lkc.1	-	c.848A>G	c.(847-849)AAT>AGT	p.N283S	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.N283S|CDH19_uc002lkd.2_Missense_Mutation_p.N283S	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.375	31.270723	31.599354	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64212068	64212068	3233	18	T	C	C	C	676	52	CDH19	4	4
ZNF257	113835	broad.mit.edu	37	19	22270783	22270783	+	Missense_Mutation	SNP	G	T	T	rs115468448	by1000genomes	TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22270783G>T	uc010ecx.2	+	c.231G>T	c.(229-231)ATG>ATT	p.M77I	ZNF257_uc010ecy.2_Missense_Mutation_p.M45I	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.272727	23.459671	24.996667	9	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22270783	22270783	18391	19	G	T	T	T	624	48	ZNF257	2	2
ZNF536	9745	broad.mit.edu	37	19	31038886	31038886	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31038886C>A	uc002nsu.1	+	c.2360C>A	c.(2359-2361)GCC>GAC	p.A787D	ZNF536_uc010edd.1_Missense_Mutation_p.A787D	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	787	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.133829	51.300192	86.227012	36	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31038886	31038886	18568	19	C	A	A	A	338	26	ZNF536	2	2
TSHZ3	57616	broad.mit.edu	37	19	31770398	31770398	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31770398C>A	uc002nsy.3	-	c.301G>T	c.(301-303)GAG>TAG	p.E101*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	101					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)													0.782609	431.560813	445.069891	144	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31770398	31770398	17176	19	C	A	A	A	390	30	TSHZ3	5	2
HAUS5	23354	broad.mit.edu	37	19	36109807	36109807	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36109807G>T	uc002oam.1	+	c.1035G>T	c.(1033-1035)GGG>GGT	p.G345G		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	345					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle					0														0.424658	82.633724	83.009938	31	42	KEEP	---	---	---	---	capture		Silent	SNP	36109807	36109807	7251	19	G	T	T	T	535	42	HAUS5	2	2
RBM42	79171	broad.mit.edu	37	19	36120454	36120454	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36120454C>G	uc002oan.2	+	c.161C>G	c.(160-162)CCT>CGT	p.P54R	RBM42_uc010xsx.1_Missense_Mutation_p.P54R|RBM42_uc010eef.2_Missense_Mutation_p.P54R|RBM42_uc002oao.2_Missense_Mutation_p.P54R|RBM42_uc002oap.2_Missense_Mutation_p.P54R|RBM42_uc002oaq.2_Missense_Mutation_p.P54R|RBM42_uc010eeg.2_Missense_Mutation_p.P54R	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	54						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.356436	95.521845	97.376179	36	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36120454	36120454	13598	19	C	G	G	G	312	24	RBM42	3	3
ZFP14	57677	broad.mit.edu	37	19	36831324	36831324	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36831324G>A	uc010xtd.1	-	c.1407C>T	c.(1405-1407)ACC>ACT	p.T469T	ZFP14_uc002odx.1_Silent_p.T468T|ZFP14_uc010eex.1_Silent_p.T468T	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	468	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)													0.442478	159.245882	159.569253	50	63	KEEP	---	---	---	---	capture		Silent	SNP	36831324	36831324	18227	19	G	A	A	A	548	43	ZFP14	2	2
ZNF345	25850	broad.mit.edu	37	19	37367788	37367788	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37367788A>G	uc002oex.2	+	c.56A>G	c.(55-57)GAA>GGA	p.E19G	ZNF345_uc002oey.3_Missense_Mutation_p.E19G|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	19					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|RNA polymerase III transcription factor activity|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.293103	101.502259	105.949964	34	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37367788	37367788	18451	19	A	G	G	G	117	9	ZNF345	4	4
ZNF829	374899	broad.mit.edu	37	19	37383322	37383322	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37383322A>T	uc002ofa.1	-	c.371T>A	c.(370-372)TTC>TAC	p.F124Y	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.077922	-2.19833	11.825484	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37383322	37383322	18781	19	A	T	T	T	117	9	ZNF829	3	3
ZNF568	374900	broad.mit.edu	37	19	37440956	37440956	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37440956A>C	uc002ofc.2	+	c.901A>C	c.(901-903)ACT>CCT	p.T301P	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.T225P|ZNF568_uc010efe.2_Missense_Mutation_p.T225P|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.424658	106.71955	107.079582	31	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37440956	37440956	18594	19	A	C	C	C	182	14	ZNF568	4	4
MATK	4145	broad.mit.edu	37	19	3784122	3784122	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3784122G>A	uc002lyv.2	-	c.365C>T	c.(364-366)CCG>CTG	p.P122L	MATK_uc002lyt.2_Missense_Mutation_p.P121L|MATK_uc002lyu.2_Missense_Mutation_p.P80L|MATK_uc010dtq.2_Missense_Mutation_p.P121L	NM_002378	NP_002369	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	121					cell proliferation|mesoderm development|positive regulation of cell proliferation|protein phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			ovary(1)|lung(1)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)						245				0.4	25.09896	25.272916	8	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3784122	3784122	9716	19	G	A	A	A	507	39	MATK	1	1
ZNF569	148266	broad.mit.edu	37	19	37904566	37904566	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37904566C>A	uc002ogj.2	-	c.1066G>T	c.(1066-1068)GGT>TGT	p.G356C	ZNF569_uc002ogh.2_Missense_Mutation_p.G173C|ZNF569_uc002ogi.2_Missense_Mutation_p.G332C	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	332	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.361345	256.883958	260.911498	86	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37904566	37904566	18595	19	C	A	A	A	273	21	ZNF569	2	2
RYR1	6261	broad.mit.edu	37	19	38959634	38959634	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38959634C>A	uc002oit.2	+	c.3410C>A	c.(3409-3411)CCA>CAA	p.P1137Q	RYR1_uc002oiu.2_Missense_Mutation_p.P1137Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1137	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.37037	57.985133	58.782806	20	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38959634	38959634	14248	19	C	A	A	A	273	21	RYR1	2	2
RYR1	6261	broad.mit.edu	37	19	38980787	38980787	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38980787G>T	uc002oit.2	+	c.5886G>T	c.(5884-5886)GCG>GCT	p.A1962A	RYR1_uc002oiu.2_Silent_p.A1962A	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1962	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.390625	71.792629	72.451508	25	39	KEEP	---	---	---	---	capture		Silent	SNP	38980787	38980787	14248	19	G	T	T	T	496	39	RYR1	1	1
RYR1	6261	broad.mit.edu	37	19	39008322	39008322	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39008322C>T	uc002oit.2	+	c.10009C>T	c.(10009-10011)CGG>TGG	p.R3337W	RYR1_uc002oiu.2_Missense_Mutation_p.R3337W|RYR1_uc002oiv.1_Missense_Mutation_p.R257W|RYR1_uc010xuf.1_Missense_Mutation_p.R257W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3337					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.130435	7.941276	14.034542	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39008322	39008322	14248	19	C	T	T	T	347	27	RYR1	1	1
MAP4K1	11184	broad.mit.edu	37	19	39101766	39101766	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39101766A>T	uc002oix.1	-	c.735T>A	c.(733-735)GCT>GCA	p.A245A	MAP4K1_uc002oiy.1_Silent_p.A245A|MAP4K1_uc010xug.1_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				activation of JUN kinase activity|activation of MAPKKK activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)	7	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)							518				0.230769	22.367908	24.949476	9	30	KEEP	---	---	---	---	capture		Silent	SNP	39101766	39101766	9642	19	A	T	T	T	80	7	MAP4K1	3	3
CYP2A7	1549	broad.mit.edu	37	19	41387975	41387975	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41387975G>T	uc002opm.2	-	c.141C>A	c.(139-141)CTC>CTA	p.L47L	CYP2A7_uc002opo.2_Intron|CYP2A7_uc002opn.2_Silent_p.L47L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	47					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)							177				0.092593	0.539382	9.560495	5	49	KEEP	---	---	---	---	capture		Silent	SNP	41387975	41387975	4328	19	G	T	T	T	522	41	CYP2A7	2	2
SEMA6B	10501	broad.mit.edu	37	19	4558098	4558098	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4558098G>A	uc010duc.1	-	c.185C>T	c.(184-186)GCT>GTT	p.A62V	SEMA6B_uc010dud.2_Missense_Mutation_p.A62V|SEMA6B_uc010xih.1_Missense_Mutation_p.A62V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	62	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)										0.444444	11.298943	11.323073	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4558098	4558098	14526	19	G	A	A	A	442	34	SEMA6B	2	2
TRPM4	54795	broad.mit.edu	37	19	49693476	49693476	+	Silent	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49693476A>C	uc002pmw.2	+	c.2031A>C	c.(2029-2031)ACA>ACC	p.T677T	TRPM4_uc010emu.2_Silent_p.T677T|TRPM4_uc010yak.1_Silent_p.T141T|TRPM4_uc002pmx.2_Silent_p.T503T|TRPM4_uc010emv.2_Silent_p.T562T|TRPM4_uc010yal.1_Silent_p.T323T|TRPM4_uc002pmy.2_Silent_p.T19T	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	677	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.541126	414.506744	414.854423	125	106	KEEP	---	---	---	---	capture		Silent	SNP	49693476	49693476	17139	19	A	C	C	C	67	6	TRPM4	4	4
ZNF432	9668	broad.mit.edu	37	19	52538395	52538395	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52538395G>A	uc002pyk.2	-	c.537C>T	c.(535-537)TTC>TTT	p.F179F		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)										0.034091	-14.253692	6.551876	3	85	KEEP	---	---	---	---	capture		Silent	SNP	52538395	52538395	18499	19	G	A	A	A	425	33	ZNF432	2	2
ZNF836	162962	broad.mit.edu	37	19	52659499	52659499	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52659499G>A	uc010ydi.1	-	c.1437C>T	c.(1435-1437)TTC>TTT	p.F479F	ZNF836_uc010ydj.1_Silent_p.F479F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	479	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.5	161.946869	161.946869	54	54	KEEP	---	---	---	---	capture		Silent	SNP	52659499	52659499	18786	19	G	A	A	A	581	45	ZNF836	2	2
ZNF761	388561	broad.mit.edu	37	19	53958705	53958705	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53958705G>A	uc010eqp.2	+	c.944G>A	c.(943-945)AGA>AAA	p.R315K	ZNF761_uc010ydy.1_Missense_Mutation_p.R261K|ZNF761_uc002qbt.1_Missense_Mutation_p.R261K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	315	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)										0.111111	15.418422	34.207302	14	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53958705	53958705	18734	19	G	A	A	A	429	33	ZNF761	2	2
VSTM1	284415	broad.mit.edu	37	19	54561767	54561767	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54561767G>T	uc002qcw.3	-	c.148C>A	c.(148-150)CAG>AAG	p.Q50K	VSTM1_uc010erb.2_Non-coding_Transcript|VSTM1_uc002qcx.3_Missense_Mutation_p.Q50K	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	50	Ig-like V-type.					integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)										0.116505	9.278937	24.33074	12	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54561767	54561767	17796	19	G	T	T	T	585	45	VSTM1	2	2
TSEN34	79042	broad.mit.edu	37	19	54697134	54697134	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54697134G>T	uc010yeo.1	+	c.850G>T	c.(850-852)GTC>TTC	p.V284F	TSEN34_uc002qdu.2_Missense_Mutation_p.V284F|TSEN34_uc002qdv.2_Missense_Mutation_p.V284F|TSEN34_uc002qdw.2_Missense_Mutation_p.V284F	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	284					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					Esophageal Squamous(37;841 964 4869 42824)								0.041667	-9.134626	7.11747	3	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54697134	54697134	17164	19	G	T	T	T	520	40	TSEN34	1	1
LILRA2	11027	broad.mit.edu	37	19	55086909	55086909	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55086909C>T	uc002qgg.3	+	c.842C>T	c.(841-843)ACC>ATC	p.T281I	LILRA2_uc010ern.2_Missense_Mutation_p.T281I|LILRA2_uc002qgf.2_Missense_Mutation_p.T281I|LILRA2_uc010yfe.1_Missense_Mutation_p.T281I|LILRA2_uc010yff.1_Missense_Mutation_p.T269I|LILRA2_uc010ero.2_Missense_Mutation_p.T269I|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	281	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)										0.434783	86.003878	86.264814	30	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55086909	55086909	9111	19	C	T	T	T	234	18	LILRA2	2	2
ISOC2	79763	broad.mit.edu	37	19	55967071	55967071	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55967071C>A	uc002qla.2	-	c.280G>T	c.(280-282)GAG>TAG	p.E94*	ISOC2_uc002qlb.2_Nonsense_Mutation_p.E94*|ISOC2_uc002qlc.2_Intron	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2 isoform 2	94					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			ovary(1)	1	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)										0.5	24.499014	24.499014	8	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55967071	55967071	8167	19	C	A	A	A	390	30	ISOC2	5	2
ZIM3	114026	broad.mit.edu	37	19	57646434	57646434	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57646434C>A	uc002qnz.1	-	c.1271G>T	c.(1270-1272)TGT>TTT	p.C424F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.095477	12.810946	45.521674	19	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57646434	57646434	18276	19	C	A	A	A	221	17	ZIM3	2	2
ZNF211	10520	broad.mit.edu	37	19	58152597	58152597	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58152597A>T	uc002qps.2	+	c.938A>T	c.(937-939)CAG>CTG	p.Q313L	ZNF211_uc010yhb.1_Missense_Mutation_p.Q252L|ZNF211_uc002qpp.2_Missense_Mutation_p.Q261L|ZNF211_uc002qpq.2_Missense_Mutation_p.Q248L|ZNF211_uc002qpr.2_Missense_Mutation_p.Q312L|ZNF211_uc002qpt.2_Missense_Mutation_p.Q260L|ZNF211_uc010yhc.1_Missense_Mutation_p.Q260L|ZNF211_uc010yhd.1_Missense_Mutation_p.Q187L|ZNF211_uc010yhe.1_Missense_Mutation_p.Q239L	NM_006385	NP_006376	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 1	248					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.587719	223.702734	224.462896	67	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58152597	58152597	18358	19	A	T	T	T	91	7	ZNF211	3	3
ZNF154	7710	broad.mit.edu	37	19	58213094	58213094	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58213094G>T	uc010euf.2	-	c.1223C>A	c.(1222-1224)ACT>AAT	p.T408N	ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	zinc finger protein 154	408					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.537313	115.846709	115.934652	36	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58213094	58213094	18326	19	G	T	T	T	468	36	ZNF154	2	2
ZNF417	147687	broad.mit.edu	37	19	58420582	58420582	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58420582C>A	uc002qqq.2	-	c.1064G>T	c.(1063-1065)GGG>GTG	p.G355V	ZNF417_uc010yhm.1_Missense_Mutation_p.G312V|ZNF417_uc002qqr.2_Missense_Mutation_p.G354V	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	355	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)										0.485549	246.856284	246.888499	84	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58420582	58420582	18487	19	C	A	A	A	286	22	ZNF417	2	2
TUBB4	10382	broad.mit.edu	37	19	6495933	6495933	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6495933C>G	uc002mfg.1	-	c.577G>C	c.(577-579)GTG>CTG	p.V193L	TUBB4_uc002mff.1_Missense_Mutation_p.V121L|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	193					'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)										0.337209	88.748959	90.764529	29	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6495933	6495933	17313	19	C	G	G	G	234	18	TUBB4	3	3
FBN3	84467	broad.mit.edu	37	19	8152944	8152944	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8152944C>A	uc002mjf.2	-	c.6496G>T	c.(6496-6498)GAC>TAC	p.D2166Y	FBN3_uc002mje.2_Missense_Mutation_p.D5Y	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2166	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.361111	34.45481	35.070052	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8152944	8152944	5940	19	C	A	A	A	286	22	FBN3	2	2
MUC16	94025	broad.mit.edu	37	19	9047816	9047816	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9047816T>A	uc002mkp.2	-	c.33815A>T	c.(33814-33816)GAG>GTG	p.E11272V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11274	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														0.5	23.195943	23.195943	8	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9047816	9047816	10367	19	T	A	A	A	702	54	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9064152	9064152	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9064152G>A	uc002mkp.2	-	c.23294C>T	c.(23293-23295)GCC>GTC	p.A7765V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7767	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														0.463576	203.00783	203.184299	70	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9064152	9064152	10367	19	G	A	A	A	546	42	MUC16	2	2
ZNF177	7730	broad.mit.edu	37	19	9492374	9492374	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9492374A>T	uc002mli.2	+	c.887A>T	c.(886-888)CAG>CTG	p.Q296L	ZNF177_uc002mlj.2_Missense_Mutation_p.Q246L|ZNF177_uc002mlk.2_Missense_Mutation_p.Q296L	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	296	C2H2-type 7.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.441176	145.262676	145.570011	45	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9492374	9492374	18337	19	A	T	T	T	91	7	ZNF177	3	3
KIAA1324	57535	broad.mit.edu	37	1	109737059	109737059	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109737059A>G	uc001dwq.2	+	c.1964A>G	c.(1963-1965)TAC>TGC	p.Y655C	KIAA1324_uc009wex.1_Missense_Mutation_p.Y605C|KIAA1324_uc009wey.2_Missense_Mutation_p.Y568C|KIAA1324_uc010ovg.1_Missense_Mutation_p.Y553C|KIAA1324_uc001dwr.2_Missense_Mutation_p.Y305C	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	655	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)										0.09375	1.803016	7.109951	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109737059	109737059	8532	1	A	G	G	G	182	14	KIAA1324	4	4
GPR61	83873	broad.mit.edu	37	1	110086428	110086428	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110086428C>G	uc001dxy.2	+	c.784C>G	c.(784-786)CGC>GGC	p.R262G		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	262	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)										0.216495	46.445396	53.625436	21	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110086428	110086428	6977	1	C	G	G	G	299	23	GPR61	3	3
TRIM33	51592	broad.mit.edu	37	1	114969832	114969832	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114969832G>A	uc001eew.2	-	c.1387C>T	c.(1387-1389)CCC>TCC	p.P463S	TRIM33_uc010owr.1_Missense_Mutation_p.P71S|TRIM33_uc010ows.1_Missense_Mutation_p.P71S|TRIM33_uc001eex.2_Missense_Mutation_p.P463S	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	463					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			central_nervous_system(3)|lung(2)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	9	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)						377				0.203125	28.749356	34.005201	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114969832	114969832	17051	1	G	A	A	A	533	41	TRIM33	2	2
IGSF3	3321	broad.mit.edu	37	1	117122093	117122093	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117122093C>A	uc001egq.1	-	c.3315G>T	c.(3313-3315)TGG>TGT	p.W1105C	IGSF3_uc001egr.1_Missense_Mutation_p.W1085C	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	1085	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)										0.369565	45.979912	46.660451	17	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117122093	117122093	7902	1	C	A	A	A	338	26	IGSF3	2	2
VTCN1	79679	broad.mit.edu	37	1	117699283	117699283	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117699283C>T	uc001ehb.2	-	c.358G>A	c.(358-360)GTG>ATG	p.V120M	VTCN1_uc001ehc.2_Missense_Mutation_p.V25M|VTCN1_uc009whf.1_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation	120	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane					0	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)										0.1	4.776935	14.303072	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117699283	117699283	17803	1	C	T	T	T	247	19	VTCN1	1	1
SV2A	9900	broad.mit.edu	37	1	149879341	149879341	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149879341A>G	uc001etg.2	-	c.1589T>C	c.(1588-1590)CTG>CCG	p.L530P	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.L530P	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	530	Extracellular (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.279412	50.396764	53.372514	19	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149879341	149879341	15937	1	A	G	G	G	91	7	SV2A	4	4
SV2A	9900	broad.mit.edu	37	1	149884838	149884838	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149884838C>T	uc001etg.2	-	c.555G>A	c.(553-555)GTG>GTA	p.V185V	SV2A_uc001eth.2_Silent_p.V185V	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	185	Helical; (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.215054	45.352054	52.320676	20	73	KEEP	---	---	---	---	capture		Silent	SNP	149884838	149884838	15937	1	C	T	T	T	262	21	SV2A	2	2
ADAMTSL4	54507	broad.mit.edu	37	1	150529802	150529802	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150529802T>C	uc009wlw.2	+	c.2107T>C	c.(2107-2109)TGC>CGC	p.C703R	ADAMTSL4_uc001euw.2_Missense_Mutation_p.C680R|ADAMTSL4_uc001eux.2_Missense_Mutation_p.C680R|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.C641R|ADAMTSL4_uc009wlx.2_5'Flank	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	680					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)											0.307692	9.193664	9.623152	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150529802	150529802	278	1	T	C	C	C	715	55	ADAMTSL4	4	4
OAZ3	51686	broad.mit.edu	37	1	151742669	151742669	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151742669C>A	uc010pdm.1	+	c.499C>A	c.(499-501)CGT>AGT	p.R167S	OAZ3_uc010pdl.1_Missense_Mutation_p.R123S|TDRKH_uc001eyy.2_3'UTR	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3 isoform 1	Error:Variant_position_missing_in_Q9UMX2_after_alignment					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)									0.195238	91.090015	109.282741	41	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151742669	151742669	11211	1	C	A	A	A	246	19	OAZ3	1	1
THEM5	284486	broad.mit.edu	37	1	151824854	151824854	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151824854G>T	uc009wnd.2	-	c.205C>A	c.(205-207)CTG>ATG	p.L69M		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	69							hydrolase activity			ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.267241	78.588245	84.254474	31	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151824854	151824854	16387	1	G	T	T	T	451	35	THEM5	2	2
FLG2	388698	broad.mit.edu	37	1	152327656	152327656	+	Missense_Mutation	SNP	G	T	T	rs34309186		TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152327656G>T	uc001ezw.3	-	c.2606C>A	c.(2605-2607)TCT>TAT	p.S869Y		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	869	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)											0.652582	436.859391	441.236258	139	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152327656	152327656	6161	1	G	T	T	T	429	33	FLG2	2	2
KPRP	448834	broad.mit.edu	37	1	152732371	152732371	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152732371C>T	uc001fal.1	+	c.307C>T	c.(307-309)CAA>TAA	p.Q103*		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	103	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.024194	-51.131417	11.205593	6	242	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152732371	152732371	8751	1	C	T	T	T	377	29	KPRP	5	2
IVL	3713	broad.mit.edu	37	1	152882759	152882759	+	Missense_Mutation	SNP	C	A	A	rs12045716		TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152882759C>A	uc001fau.2	+	c.486C>A	c.(484-486)CAC>CAA	p.H162Q		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	162	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|1.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.296296	21.791632	22.792373	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152882759	152882759	8233	1	C	A	A	A	233	18	IVL	2	2
PGLYRP3	114771	broad.mit.edu	37	1	153283102	153283102	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153283102C>A	uc001fbn.1	-	c.40G>T	c.(40-42)GGT>TGT	p.G14C		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	14					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(2)|pancreas(1)	3	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.303448	117.221821	122.236438	44	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153283102	153283102	12218	1	C	A	A	A	286	22	PGLYRP3	2	2
NPR1	4881	broad.mit.edu	37	1	153660630	153660630	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153660630T>C	uc001fcs.3	+	c.2350T>C	c.(2350-2352)TGG>CGG	p.W784R	NPR1_uc010pdz.1_Missense_Mutation_p.W530R|NPR1_uc010pea.1_Missense_Mutation_p.W262R	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	784	Cytoplasmic (Potential).|Protein kinase.				diuresis|intracellular signal transduction|natriuresis|negative regulation of angiogenesis|negative regulation of cell growth|protein phosphorylation|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	integral to plasma membrane	ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|breast(1)	6	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	Pancreas(141;1349 1870 15144 15830 40702)				382				0.351064	91.264103	93.095101	33	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153660630	153660630	10999	1	T	C	C	C	715	55	NPR1	4	4
CRTC2	200186	broad.mit.edu	37	1	153920685	153920685	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153920685T>A	uc010ped.1	-	c.1982A>T	c.(1981-1983)GAG>GTG	p.E661V	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_Non-coding_Transcript|CRTC2_uc001fdf.3_Missense_Mutation_p.E197V	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	661					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)											0.295238	78.780896	82.722588	31	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153920685	153920685	4039	1	T	A	A	A	702	54	CRTC2	3	3
ADAM15	8751	broad.mit.edu	37	1	155030752	155030752	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155030752G>A	uc001fgr.1	+	c.1752G>A	c.(1750-1752)CAG>CAA	p.Q584Q	ADAM15_uc001fgq.1_Silent_p.Q269Q|ADAM15_uc010pet.1_Silent_p.Q568Q|ADAM15_uc010peu.1_Silent_p.Q601Q|ADAM15_uc001fgt.1_Silent_p.Q584Q|ADAM15_uc010pev.1_Silent_p.Q594Q|ADAM15_uc001fgs.1_Silent_p.Q584Q|ADAM15_uc001fgu.1_Silent_p.Q584Q|ADAM15_uc001fgw.1_Silent_p.Q584Q|ADAM15_uc001fgv.1_Silent_p.Q584Q|ADAM15_uc001fgx.1_Silent_p.Q584Q|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fhb.1_5'UTR	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	584	Extracellular (Potential).|Cys-rich.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)											0.125	8.016972	14.611462	6	42	KEEP	---	---	---	---	capture		Silent	SNP	155030752	155030752	238	1	G	A	A	A	425	33	ADAM15	2	2
MUC1	4582	broad.mit.edu	37	1	155160273	155160273	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155160273C>A	uc009wpz.2	-	c.427G>T	c.(427-429)GAC>TAC	p.D143Y	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Missense_Mutation_p.D41Y|MUC1_uc001fhz.2_Missense_Mutation_p.D41Y|MUC1_uc010pfb.1_Missense_Mutation_p.D41Y|MUC1_uc010pfc.1_Non-coding_Transcript|MUC1_uc009wph.2_Missense_Mutation_p.D41Y|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Non-coding_Transcript|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Missense_Mutation_p.D41Y|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Missense_Mutation_p.D187Y|MUC1_uc010pfi.1_Missense_Mutation_p.D187Y|MUC1_uc010pfj.1_Missense_Mutation_p.D211Y|MUC1_uc010pfk.1_Non-coding_Transcript|MUC1_uc010pfl.1_Non-coding_Transcript|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Missense_Mutation_p.D63Y|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Missense_Mutation_p.D72Y|MUC1_uc009wpo.2_Missense_Mutation_p.D78Y|MUC1_uc009wps.2_Missense_Mutation_p.D99Y|MUC1_uc009wpt.2_Missense_Mutation_p.D102Y|MUC1_uc001fic.2_Missense_Mutation_p.D90Y|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Missense_Mutation_p.D104Y|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Missense_Mutation_p.D100Y|MUC1_uc001fid.2_Missense_Mutation_p.D91Y|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Missense_Mutation_p.D125Y|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Missense_Mutation_p.D41Y|MUC1_uc001fiq.2_Missense_Mutation_p.D41Y|MUC1_uc010pfn.1_Missense_Mutation_p.D116Y|MUC1_uc009wqa.2_Missense_Mutation_p.D199Y|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Missense_Mutation_p.D116Y|MUC1_uc009wqc.2_Missense_Mutation_p.D113Y|MUC1_uc009wqd.2_Missense_Mutation_p.D137Y|MUC1_uc009wqb.2_Missense_Mutation_p.D41Y|MUC1_uc010pfq.1_Missense_Mutation_p.D113Y|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Missense_Mutation_p.D41Y|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Missense_Mutation_p.D134Y|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Non-coding_Transcript|MUC1_uc001fik.2_Missense_Mutation_p.D134Y|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Missense_Mutation_p.D125Y|MUC1_uc001fis.1_Intron	NM_002456	NP_002447	P15941	MUC1_HUMAN	mucin 1 isoform 1 precursor	1116	Extracellular (Potential).|SEA.			D->A: Greatly reduced formation of isoform 5/isoform 7 complex.|D->E: No effect on formation of isoform 5/isoform 7 complex.		apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)	2	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)							107				0.285714	22.594682	23.744681	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155160273	155160273	10363	1	C	A	A	A	403	31	MUC1	1	1
CD5L	922	broad.mit.edu	37	1	157805829	157805829	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157805829C>A	uc001frk.3	-	c.172G>T	c.(172-174)GTG>TTG	p.V58L		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	58	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.322981	149.656965	154.129826	52	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157805829	157805829	3155	1	C	A	A	A	247	19	CD5L	1	1
OR10Z1	128368	broad.mit.edu	37	1	158577102	158577102	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158577102C>A	uc010pio.1	+	c.874C>A	c.(874-876)CTA>ATA	p.L292I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.376866	287.79924	291.366987	101	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158577102	158577102	11329	1	C	A	A	A	415	32	OR10Z1	2	2
IFI16	3428	broad.mit.edu	37	1	159021489	159021490	+	Nonsense_Mutation	DNP	TG	CT	CT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159021489_159021490TG>CT	uc001ftg.2	+	c.1518_1519TG>CT	c.(1516-1521)ACTGAA>ACCTAA	p.E507*	IFI16_uc010pis.1_Nonsense_Mutation_p.E507*|IFI16_uc001fth.2_Nonsense_Mutation_p.E50*|IFI16_uc010pit.1_Nonsense_Mutation_p.E106*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	550					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nucleolus|nucleoplasm	double-stranded DNA binding|transcription repressor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.366197	82.59906	83.7287	26	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	159021489	159021490	7812	1	TG	CT	CT	CT	704	55	IFI16	5	4
OR10J5	127385	broad.mit.edu	37	1	159505015	159505015	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159505015C>T	uc010piw.1	-	c.783G>A	c.(781-783)CCG>CCA	p.P261P		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.042254	-9.302136	6.638336	3	68	KEEP	---	---	---	---	capture		Silent	SNP	159505015	159505015	11318	1	C	T	T	T	392	31	OR10J5	1	1
ATP1A4	480	broad.mit.edu	37	1	160137163	160137163	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160137163G>C	uc001fve.3	+	c.1452G>C	c.(1450-1452)AAG>AAC	p.K484N	ATP1A4_uc001fvf.3_Non-coding_Transcript|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	484	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)	2	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.313559	92.533015	96.183837	37	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160137163	160137163	1150	1	G	C	C	C	451	35	ATP1A4	3	3
PLEKHM2	23207	broad.mit.edu	37	1	16057111	16057111	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16057111T>A	uc010obo.1	+	c.2293T>A	c.(2293-2295)TGC>AGC	p.C765S		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	765	Interaction with sifA.				Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)										0.5	9.924998	9.924998	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16057111	16057111	12507	1	T	A	A	A	715	55	PLEKHM2	3	3
OLFML2B	25903	broad.mit.edu	37	1	161954010	161954010	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161954010C>A	uc010pkq.1	-	c.1711G>T	c.(1711-1713)GTA>TTA	p.V571L	OLFML2B_uc001gbt.2_Missense_Mutation_p.V53L|OLFML2B_uc001gbu.2_Missense_Mutation_p.V570L	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	570	Olfactomedin-like.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.25	40.142866	44.008017	17	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161954010	161954010	11263	1	C	A	A	A	234	18	OLFML2B	2	2
NUF2	83540	broad.mit.edu	37	1	163313600	163313600	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163313600G>C	uc001gcq.1	+	c.747G>C	c.(745-747)GAG>GAC	p.E249D	NUF2_uc001gcp.2_Missense_Mutation_p.E249D|NUF2_uc001gcr.1_Missense_Mutation_p.E249D|NUF2_uc009wvc.1_Missense_Mutation_p.E249D	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	249	Interaction with the N-terminus of NDC80.|Potential.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.227273	26.544189	29.535681	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163313600	163313600	11152	1	G	C	C	C	425	33	NUF2	3	3
SELP	6403	broad.mit.edu	37	1	169581604	169581604	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169581604C>T	uc001ggi.3	-	c.812G>A	c.(811-813)GGA>GAA	p.G271E	SELP_uc001ggh.2_Missense_Mutation_p.G106E|SELP_uc009wvr.2_Missense_Mutation_p.G271E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	271	Extracellular (Potential).|Sushi 2.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.288136	40.635687	43.022169	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169581604	169581604	14505	1	C	T	T	T	390	30	SELP	2	2
TNFSF4	7292	broad.mit.edu	37	1	173176276	173176276	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173176276C>A	uc001giw.2	-	c.40G>T	c.(40-42)GCA>TCA	p.A14S	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	14	Cytoplasmic (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of gene-specific transcription|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1														0.271186	39.70037	42.472438	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173176276	173176276	16851	1	C	A	A	A	325	25	TNFSF4	2	2
PAPPA2	60676	broad.mit.edu	37	1	176564445	176564445	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176564445G>A	uc001gkz.2	+	c.1705G>A	c.(1705-1707)GTC>ATC	p.V569I	PAPPA2_uc001gky.1_Missense_Mutation_p.V569I|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	569	Metalloprotease.				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														0.302632	60.409446	63.045067	23	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176564445	176564445	11850	1	G	A	A	A	520	40	PAPPA2	1	1
C1orf49	84066	broad.mit.edu	37	1	178489853	178489853	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178489853G>T	uc001glt.1	+	c.387G>T	c.(385-387)ATG>ATT	p.M129I	C1orf49_uc001glu.1_Missense_Mutation_p.M129I|C1orf49_uc001glv.1_Non-coding_Transcript|C1orf49_uc001glw.1_Missense_Mutation_p.M137I	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	hypothetical protein LOC84066	129						microtubule cytoskeleton					0														0.192308	11.772637	14.061515	5	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178489853	178489853	2115	1	G	T	T	T	611	47	C1orf49	2	2
C1orf125	126859	broad.mit.edu	37	1	179347807	179347807	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179347807A>T	uc001gmo.2	+	c.410A>T	c.(409-411)AAA>ATA	p.K137I	C1orf125_uc009wxg.2_Non-coding_Transcript|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_Non-coding_Transcript|C1orf125_uc001gmp.2_Missense_Mutation_p.K137I	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	137											0														0.365854	86.226725	87.524956	30	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179347807	179347807	2060	1	A	T	T	T	13	1	C1orf125	3	3
CFH	3075	broad.mit.edu	37	1	196642292	196642292	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196642292G>T	uc001gtj.3	+	c.243G>T	c.(241-243)CAG>CAT	p.Q81H	CFH_uc001gti.3_Missense_Mutation_p.Q81H|CFH_uc009wyw.2_Missense_Mutation_p.Q81H|CFH_uc009wyx.2_Missense_Mutation_p.Q81H	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	81	Sushi 1.				complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.21519	34.47577	40.467725	17	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196642292	196642292	3416	1	G	T	T	T	425	33	CFH	2	2
TMCO4	255104	broad.mit.edu	37	1	20082238	20082238	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20082238C>T	uc001bcn.2	-	c.404G>A	c.(403-405)AGA>AAA	p.R135K	TMCO4_uc001bcm.2_Missense_Mutation_p.R135K|TMCO4_uc001bco.1_Missense_Mutation_p.R135K|TMCO4_uc001bcp.1_Missense_Mutation_p.R135K|TMCO4_uc009vpn.1_Missense_Mutation_p.R135K|TMCO4_uc001bcq.1_Missense_Mutation_p.R135K	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	135						integral to membrane					0		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;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)										0.271605	63.532665	67.33067	22	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20082238	20082238	16528	1	C	T	T	T	416	32	TMCO4	2	2
OTUD3	23252	broad.mit.edu	37	1	20216956	20216956	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20216956G>T	uc001bcs.3	+	c.300G>T	c.(298-300)GTG>GTT	p.V100V		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	100	OTU.										0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)										0.33945	103.536263	106.022632	37	72	KEEP	---	---	---	---	capture		Silent	SNP	20216956	20216956	11726	1	G	T	T	T	600	47	OTUD3	2	2
ATP2B4	493	broad.mit.edu	37	1	203669926	203669926	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203669926G>T	uc001gzw.2	+	c.776G>T	c.(775-777)GGG>GTG	p.G259V	ATP2B4_uc001gzv.2_Missense_Mutation_p.G259V|ATP2B4_uc009xaq.2_Missense_Mutation_p.G259V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	259	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)	2	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.148936	11.339339	16.860458	7	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203669926	203669926	1161	1	G	T	T	T	559	43	ATP2B4	2	2
USH2A	7399	broad.mit.edu	37	1	215848721	215848721	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215848721G>C	uc001hku.1	-	c.12532C>G	c.(12532-12534)CCT>GCT	p.P4178A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4178	Extracellular (Potential).|Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.173913	19.285424	23.890545	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215848721	215848721	17598	1	G	C	C	C	546	42	USH2A	3	3
TGFB2	7042	broad.mit.edu	37	1	218610720	218610720	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:218610720A>G	uc001hln.2	+	c.1052A>G	c.(1051-1053)TAC>TGC	p.Y351C	TGFB2_uc001hlm.2_Missense_Mutation_p.Y323C|TGFB2_uc010pue.1_Non-coding_Transcript|TGFB2_uc001hlo.2_Non-coding_Transcript	NM_001135599	NP_001129071	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 1	323					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)						137				0.292683	73.18039	76.328189	24	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218610720	218610720	16346	1	A	G	G	G	182	14	TGFB2	4	4
LEFTY2	7044	broad.mit.edu	37	1	226128808	226128808	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226128808C>A	uc001hpt.1	-	c.33G>T	c.(31-33)TGG>TGT	p.W11C	LEFTY2_uc010pvk.1_Missense_Mutation_p.W11C|LEFTY2_uc009xek.1_Missense_Mutation_p.W11C	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	11					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					Colon(172;116 2643 9098 43333)								0.235294	8.810395	9.887148	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226128808	226128808	9040	1	C	A	A	A	286	22	LEFTY2	2	2
C1orf198	84886	broad.mit.edu	37	1	230979457	230979457	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230979457G>C	uc001hub.2	-	c.570C>G	c.(568-570)TTC>TTG	p.F190L	C1orf198_uc009xfh.1_Missense_Mutation_p.F60L|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.F152L	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	190											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)												0.048544	-13.345257	9.193279	5	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230979457	230979457	2094	1	G	C	C	C	425	33	C1orf198	3	3
LYST	1130	broad.mit.edu	37	1	235969372	235969372	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235969372G>T	uc001hxj.2	-	c.3064C>A	c.(3064-3066)CAG>AAG	p.Q1022K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.Q1022K	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1022					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)											0.330097	93.909879	96.547902	34	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235969372	235969372	9505	1	G	T	T	T	611	47	LYST	2	2
HEATR1	55127	broad.mit.edu	37	1	236727849	236727849	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236727849C>T	uc001hyd.1	-	c.4548G>A	c.(4546-4548)TTG>TTA	p.L1516L	HEATR1_uc009xgh.1_Silent_p.L678L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1516					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)											0.34375	61.747806	63.119784	22	42	KEEP	---	---	---	---	capture		Silent	SNP	236727849	236727849	7310	1	C	T	T	T	220	17	HEATR1	2	2
RYR2	6262	broad.mit.edu	37	1	237608780	237608780	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237608780G>C	uc001hyl.1	+	c.1250G>C	c.(1249-1251)CGA>CCA	p.R417P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	417	Cytoplasmic (By similarity).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.209677	30.834704	35.684805	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237608780	237608780	14249	1	G	C	C	C	481	37	RYR2	3	3
IL22RA1	58985	broad.mit.edu	37	1	24463712	24463712	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24463712G>A	uc001biq.1	-	c.264C>T	c.(262-264)CTC>CTT	p.L88L	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Silent_p.L88L	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	88	Extracellular (Potential).|Fibronectin type-III 1.					integral to membrane	interferon receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)										0.166667	13.598582	18.023234	7	35	KEEP	---	---	---	---	capture		Silent	SNP	24463712	24463712	7974	1	G	A	A	A	574	45	IL22RA1	2	2
NLRP3	114548	broad.mit.edu	37	1	247587436	247587436	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587436G>A	uc001icr.2	+	c.691G>A	c.(691-693)GGG>AGG	p.G231R	NLRP3_uc001ics.2_Missense_Mutation_p.G231R|NLRP3_uc001icu.2_Missense_Mutation_p.G231R|NLRP3_uc001icw.2_Missense_Mutation_p.G231R|NLRP3_uc001icv.2_Missense_Mutation_p.G231R|NLRP3_uc010pyw.1_Missense_Mutation_p.G229R|NLRP3_uc001ict.1_Missense_Mutation_p.G229R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	231	ATP (Potential).|NACHT.				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				0.384615	29.145016	29.447993	10	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587436	247587436	10881	1	G	A	A	A	611	47	NLRP3	2	2
OR13G1	441933	broad.mit.edu	37	1	247836335	247836335	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247836335G>T	uc001idi.1	-	c.9C>A	c.(7-9)CAC>CAA	p.H3Q		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.211538	29.596718	33.596628	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247836335	247836335	11348	1	G	T	T	T	620	48	OR13G1	2	2
OR2W3	343171	broad.mit.edu	37	1	248059478	248059478	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059478G>T	uc001idp.1	+	c.590G>T	c.(589-591)GGC>GTC	p.G197V	OR2W3_uc010pzb.1_Missense_Mutation_p.G197V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.195122	28.812312	35.982438	16	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059478	248059478	11439	1	G	T	T	T	546	42	OR2W3	2	2
OR2AK2	391191	broad.mit.edu	37	1	248129425	248129425	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248129425C>A	uc010pzd.1	+	c.792C>A	c.(790-792)AGC>AGA	p.S264R	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	264	Helical; Name=6; (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)								0.25	24.417752	26.910388	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248129425	248129425	11392	1	C	A	A	A	337	26	OR2AK2	2	2
OR2T3	343173	broad.mit.edu	37	1	248637201	248637201	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637201T>A	uc001iel.1	+	c.550T>A	c.(550-552)TGT>AGT	p.C184S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)											0.2125	40.864043	46.951305	17	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248637201	248637201	11429	1	T	A	A	A	715	55	OR2T3	3	3
OR2G6	391211	broad.mit.edu	37	1	248685394	248685394	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685394G>T	uc001ien.1	+	c.447G>T	c.(445-447)TGG>TGT	p.W149C		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	149	Helical; Name=4; (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)											0.189189	10.903435	14.256852	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685394	248685394	11406	1	G	T	T	T	546	42	OR2G6	2	2
PGBD2	267002	broad.mit.edu	37	1	249211251	249211251	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:249211251C>T	uc001ifh.2	+	c.468C>T	c.(466-468)TTC>TTT	p.F156F	PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Silent_p.F153F	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	156										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)											0.075472	-1.785547	17.806615	8	98	KEEP	---	---	---	---	capture		Silent	SNP	249211251	249211251	12204	1	C	T	T	T	376	29	PGBD2	2	2
RHCE	6006	broad.mit.edu	37	1	25717390	25717390	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25717390C>A	uc001bkf.2	-	c.651G>T	c.(649-651)TGG>TGT	p.W217C	RHCE_uc001bkg.2_Missense_Mutation_p.W217C|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.W201C	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	217	Helical; (Potential).			W -> R (in Ref. 13; ACK75569).		integral to plasma membrane	ammonium transmembrane transporter activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)										0.154545	27.601041	40.157639	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25717390	25717390	13800	1	C	A	A	A	390	30	RHCE	2	2
AHDC1	27245	broad.mit.edu	37	1	27877205	27877205	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27877205C>A	uc009vsy.2	-	c.1422G>T	c.(1420-1422)ATG>ATT	p.M474I	AHDC1_uc009vsz.1_Missense_Mutation_p.M474I	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	474							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)										0.478261	33.923811	33.933243	11	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27877205	27877205	415	1	C	A	A	A	273	21	AHDC1	2	2
ZSCAN20	7579	broad.mit.edu	37	1	33945125	33945126	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33945125_33945126GG>TT	uc001bxj.3	+	c.236_237GG>TT	c.(235-237)TGG>TTT	p.W79F	ZSCAN20_uc001bxk.2_Missense_Mutation_p.W79F|ZSCAN20_uc009vui.2_Missense_Mutation_p.W79F	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	79	SCAN box.				regulation of transcription, DNA-dependent|viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.171429	12.333914	15.901334	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	33945125	33945126	18836	1	GG	TT	TT	TT	611	47	ZSCAN20	2	2
MEGF6	1953	broad.mit.edu	37	1	3511967	3511967	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3511967G>T	uc001akl.2	-	c.311C>A	c.(310-312)GCC>GAC	p.A104D		NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	104	EMI.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		Ovarian(73;978 3658)								0.342105	32.170773	33.004272	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3511967	3511967	9851	1	G	T	T	T	546	42	MEGF6	2	2
MACF1	23499	broad.mit.edu	37	1	39893130	39893130	+	Silent	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39893130A>G	uc010oiu.1	+	c.11640A>G	c.(11638-11640)CAA>CAG	p.Q3880Q	MACF1_uc010ois.1_Silent_p.Q3378Q|MACF1_uc001cda.1_Silent_p.Q3265Q|MACF1_uc001cdc.1_Silent_p.Q2444Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3378	Spectrin 21.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.309524	76.413231	79.132031	26	58	KEEP	---	---	---	---	capture		Silent	SNP	39893130	39893130	9521	1	A	G	G	G	11	1	MACF1	4	4
YBX1	4904	broad.mit.edu	37	1	43162350	43162350	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43162350T>C	uc001chs.2	+	c.392T>C	c.(391-393)GTT>GCT	p.V131A		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	131					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription repressor activity			ovary(4)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.458333	69.943654	70.016325	22	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43162350	43162350	18052	1	T	C	C	C	780	60	YBX1	4	4
YBX1	4904	broad.mit.edu	37	1	43166670	43166670	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43166670A>T	uc001chs.2	+	c.959A>T	c.(958-960)CAG>CTG	p.Q320L		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	320					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription repressor activity			ovary(4)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.428571	44.815906	44.972265	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43166670	43166670	18052	1	A	T	T	T	91	7	YBX1	3	3
KIAA0467	23334	broad.mit.edu	37	1	43870102	43870102	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43870102C>T	uc009vws.1	+	c.379C>T	c.(379-381)CGC>TGC	p.R127C	C1orf84_uc001cjh.2_Missense_Mutation_p.R125C|C1orf84_uc001cji.1_Non-coding_Transcript	KIAA0467		Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	127						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.166667	23.695649	30.638158	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43870102	43870102	8485	1	C	T	T	T	299	23	KIAA0467	1	1
STIL	6491	broad.mit.edu	37	1	47746154	47746154	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47746154G>A	uc001crd.1	-	c.1976C>T	c.(1975-1977)TCA>TTA	p.S659L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S612L|STIL_uc010omo.1_Missense_Mutation_p.S659L|STIL_uc001crc.1_Missense_Mutation_p.S659L|STIL_uc001cre.1_Missense_Mutation_p.S659L|STIL_uc001crf.1_Missense_Mutation_p.S272L|STIL_uc001crg.1_Missense_Mutation_p.S612L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 1	659	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	cytosol					0		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)								992				0.059524	-5.994744	11.058345	5	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47746154	47746154	15802	1	G	A	A	A	585	45	STIL	2	2
AJAP1	55966	broad.mit.edu	37	1	4829965	4829965	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:4829965A>T	uc001alm.1	+	c.882A>T	c.(880-882)ATA>ATT	p.I294I	AJAP1_uc001aln.2_Silent_p.I294I	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	294	Helical; Signal-anchor for type III membrane protein; (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)										0.177083	34.120546	43.548791	17	79	KEEP	---	---	---	---	capture		Silent	SNP	4829965	4829965	441	1	A	T	T	T	189	15	AJAP1	3	3
SPATA6	54558	broad.mit.edu	37	1	48918776	48918776	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:48918776C>G	uc001crr.1	-	c.79G>C	c.(79-81)GAC>CAC	p.D27H	SPATA6_uc001crs.1_Missense_Mutation_p.D27H|SPATA6_uc010omv.1_Missense_Mutation_p.D27H|SPATA6_uc001crt.2_5'UTR	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	27					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1														0.15	19.835423	26.88065	9	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48918776	48918776	15523	1	C	G	G	G	416	32	SPATA6	3	3
CC2D1B	200014	broad.mit.edu	37	1	52819274	52819274	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52819274C>A	uc001ctq.1	-	c.2494G>T	c.(2494-2496)GTG>TTG	p.V832L	CC2D1B_uc001ctr.2_Missense_Mutation_p.V372L|CC2D1B_uc001cts.2_Splice_Site_SNP_p.K516_splice	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	832										ovary(1)	1														0.411765	17.916351	18.033146	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52819274	52819274	2847	1	C	A	A	A	234	18	CC2D1B	2	2
FOXD3	27022	broad.mit.edu	37	1	63789229	63789229	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63789229T>A	uc001dax.2	+	c.500T>A	c.(499-501)ATC>AAC	p.I167N		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	167	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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				0						Pancreas(68;276 1750 11966 31252)								0.050633	-9.257326	7.659015	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63789229	63789229	6240	1	T	A	A	A	650	50	FOXD3	3	3
CACHD1	57685	broad.mit.edu	37	1	65098382	65098382	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65098382G>C	uc001dbo.1	+	c.592G>C	c.(592-594)GAC>CAC	p.D198H	CACHD1_uc001dbp.1_Intron|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	249	Extracellular (Potential).|VWFA.				calcium ion transport	integral to membrane				ovary(2)	2														0.454545	64.995102	65.074277	20	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65098382	65098382	2653	1	G	C	C	C	533	41	CACHD1	3	3
JAK1	3716	broad.mit.edu	37	1	65323453	65323453	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65323453G>A	uc001dbu.1	-	c.1344C>T	c.(1342-1344)TAC>TAT	p.Y448Y	JAK1_uc009wam.1_Silent_p.Y436Y	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	448	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(30)|prostate(7)|soft_tissue(6)|lung(4)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	55				BRCA - Breast invasive adenocarcinoma(111;0.0485)						1025				0.2	13.852606	16.348942	6	24	KEEP	---	---	---	---	capture		Silent	SNP	65323453	65323453	8241	1	G	A	A	A	516	40	JAK1	1	1
SGIP1	84251	broad.mit.edu	37	1	67155937	67155937	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67155937C>A	uc001dcr.2	+	c.1508C>A	c.(1507-1509)GCT>GAT	p.A503D	SGIP1_uc010opd.1_Missense_Mutation_p.A103D|SGIP1_uc001dcs.2_Missense_Mutation_p.A103D|SGIP1_uc001dct.2_Missense_Mutation_p.A103D|SGIP1_uc009wat.2_Missense_Mutation_p.A297D	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	503					intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.201754	46.195642	55.713902	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67155937	67155937	14697	1	C	A	A	A	364	28	SGIP1	2	2
LRRC7	57554	broad.mit.edu	37	1	70452024	70452024	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70452024C>A	uc001dep.2	+	c.772C>A	c.(772-774)CTC>ATC	p.L258I	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258	LRR 11.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.078947	-0.206268	6.675757	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70452024	70452024	9396	1	C	A	A	A	312	24	LRRC7	2	2
LRRC40	55631	broad.mit.edu	37	1	70618156	70618156	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70618156C>A	uc001der.1	-	c.1399G>T	c.(1399-1401)GAG>TAG	p.E467*		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	467	LRR 15.									ovary(1)	1														0.424242	41.84531	42.010329	14	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70618156	70618156	9373	1	C	A	A	A	390	30	LRRC40	5	2
COL24A1	255631	broad.mit.edu	37	1	86590978	86590978	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86590978G>A	uc001dlj.2	-	c.1041C>T	c.(1039-1041)TTC>TTT	p.F347F	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript|COL24A1_uc009wcq.2_Silent_p.F347F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	347					cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.192771	29.432372	36.777695	16	67	KEEP	---	---	---	---	capture		Silent	SNP	86590978	86590978	3821	1	G	A	A	A	581	45	COL24A1	2	2
GBP5	115362	broad.mit.edu	37	1	89730567	89730567	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89730567C>G	uc001dnc.2	-	c.951G>C	c.(949-951)TTG>TTC	p.L317F	GBP5_uc001dnd.2_Missense_Mutation_p.L317F|GBP5_uc001dne.1_Missense_Mutation_p.L317F	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	317						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)										0.459016	86.399203	86.487397	28	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89730567	89730567	6543	1	C	G	G	G	272	21	GBP5	3	3
EPHX4	253152	broad.mit.edu	37	1	92511171	92511171	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92511171G>T	uc001don.2	+	c.558G>T	c.(556-558)GTG>GTT	p.V186V		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	186						integral to membrane	hydrolase activity			central_nervous_system(1)	1						GBM(140;473 1857 5172 22066 49719)								0.39759	94.667799	95.424921	33	50	KEEP	---	---	---	---	capture		Silent	SNP	92511171	92511171	5375	1	G	T	T	T	574	45	EPHX4	2	2
H6PD	9563	broad.mit.edu	37	1	9324728	9324728	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9324728C>G	uc001apt.2	+	c.2176C>G	c.(2176-2178)CAC>GAC	p.H726D		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	726	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase activity|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)									0.375	17.245135	17.464926	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9324728	9324728	7218	1	C	G	G	G	221	17	H6PD	3	3
ESF1	51575	broad.mit.edu	37	20	13755882	13755882	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13755882C>A	uc002woj.2	-	c.1070G>T	c.(1069-1071)TGG>TTG	p.W357L	ESF1_uc002wok.1_Missense_Mutation_p.W357L	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.223529	49.278884	55.252301	19	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13755882	13755882	5444	20	C	A	A	A	273	21	ESF1	2	2
ATRN	8455	broad.mit.edu	37	20	3584857	3584857	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3584857A>G	uc002wim.2	+	c.3749A>G	c.(3748-3750)AAT>AGT	p.N1250S	ATRN_uc002wil.2_Missense_Mutation_p.N1250S	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1250	Extracellular (Potential).				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.205882	36.332283	41.771793	14	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3584857	3584857	1225	20	A	G	G	G	52	4	ATRN	4	4
ADAM33	80332	broad.mit.edu	37	20	3655206	3655206	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3655206C>A	uc002wit.2	-	c.545G>T	c.(544-546)AGG>ATG	p.R182M	ADAM33_uc002wir.1_Missense_Mutation_p.R182M|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R182M|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R194M|ADAM33_uc010zqh.1_Missense_Mutation_p.R182M	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	182	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4														0.373737	107.455512	108.838688	37	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3655206	3655206	251	20	C	A	A	A	312	24	ADAM33	2	2
ADA	100	broad.mit.edu	37	20	43248977	43248977	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43248977G>T	uc002xmj.2	-	c.1041C>A	c.(1039-1041)CTC>CTA	p.L347L	ADA_uc010ggt.2_Non-coding_Transcript	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	347					adenosine catabolic process|cell adhesion|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)									0.304348	50.588924	52.984768	21	48	KEEP	---	---	---	---	capture		Silent	SNP	43248977	43248977	231	20	G	T	T	T	418	33	ADA	2	2
SLC2A10	81031	broad.mit.edu	37	20	45358045	45358045	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45358045G>T	uc002xsl.2	+	c.1465G>T	c.(1465-1467)GGC>TGC	p.G489C		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	489	Helical; Name=12; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.333333	42.857194	44.051793	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45358045	45358045	15036	20	G	T	T	T	507	39	SLC2A10	1	1
SLC2A10	81031	broad.mit.edu	37	20	45362406	45362406	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45362406G>T	uc002xsl.2	+	c.1559G>T	c.(1558-1560)AGC>ATC	p.S520I		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	520	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.1875	24.596578	30.423527	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45362406	45362406	15036	20	G	T	T	T	442	34	SLC2A10	2	2
ZMYND8	23613	broad.mit.edu	37	20	45850047	45850047	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45850047C>A	uc010zxy.1	-	c.3356G>T	c.(3355-3357)AGC>ATC	p.S1119I	ZMYND8_uc010ghq.1_Missense_Mutation_p.S723I|ZMYND8_uc010ghr.1_Missense_Mutation_p.S994I|ZMYND8_uc002xst.1_Missense_Mutation_p.S974I|ZMYND8_uc002xsu.1_Missense_Mutation_p.S965I|ZMYND8_uc002xsv.1_Missense_Mutation_p.S1020I|ZMYND8_uc002xsw.1_Missense_Mutation_p.S798I|ZMYND8_uc002xsx.1_Missense_Mutation_p.S798I|ZMYND8_uc002xsy.1_Missense_Mutation_p.S1021I|ZMYND8_uc002xsz.1_Missense_Mutation_p.S983I|ZMYND8_uc002xta.1_Missense_Mutation_p.S1092I|ZMYND8_uc002xtb.1_Missense_Mutation_p.S1066I|ZMYND8_uc002xss.2_Missense_Mutation_p.S1092I|ZMYND8_uc010zxz.1_Missense_Mutation_p.S960I|ZMYND8_uc002xtc.1_Missense_Mutation_p.S1066I|ZMYND8_uc002xtd.1_Missense_Mutation_p.S1041I|ZMYND8_uc002xte.1_Missense_Mutation_p.S1046I|ZMYND8_uc010zya.1_Missense_Mutation_p.S1092I|ZMYND8_uc002xtf.1_Missense_Mutation_p.S1112I|ZMYND8_uc002xsr.1_Missense_Mutation_p.S191I	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform a	1092	Poly-Ser.						protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)											0.305085	50.158539	52.140956	18	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45850047	45850047	18302	20	C	A	A	A	364	28	ZMYND8	2	2
BMP7	655	broad.mit.edu	37	20	55803293	55803293	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55803293G>A	uc010gip.1	-	c.603C>T	c.(601-603)CAC>CAT	p.H201H	BMP7_uc010giq.1_Silent_p.H201H|BMP7_uc002xyc.2_Silent_p.H201H	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	201					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)											0.29661	95.798403	100.220723	35	83	KEEP	---	---	---	---	capture		Silent	SNP	55803293	55803293	1490	20	G	A	A	A	464	36	BMP7	2	2
C20orf85	128602	broad.mit.edu	37	20	56728599	56728599	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56728599G>T	uc002xyv.2	+	c.69_splice	c.e2-1	p.W23_splice		NM_178456	NP_848551			hypothetical protein LOC128602											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)											0.358779	136.614744	138.903811	47	84	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56728599	56728599	2200	20	G	T	T	T	455	35	C20orf85	5	2
GNAS	2778	broad.mit.edu	37	20	57429321	57429321	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57429321G>T	uc002xzw.2	+	c.1001G>T	c.(1000-1002)GGC>GTC	p.G334V	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_Non-coding_Transcript	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.333333	6.292105	6.528717	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57429321	57429321	6779	20	G	T	T	T	546	42	GNAS	2	2
GNAS	2778	broad.mit.edu	37	20	57430039	57430039	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57430039C>T	uc002xzw.2	+	c.1719C>T	c.(1717-1719)GAC>GAT	p.D573D	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_Non-coding_Transcript	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|large_intestine(5)|parathyroid(5)|kidney(5)|lung(2)|testis(1)|autonomic_ganglia(1)	279	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			Colon(117;935 1597 6045 8307 46442)				461	TSP Lung(22;0.16)			0.315789	14.841386	15.415898	6	13	KEEP	---	---	---	---	capture		Silent	SNP	57430039	57430039	6779	20	C	T	T	T	247	19	GNAS	1	1
NCAM2	4685	broad.mit.edu	37	21	22804541	22804541	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22804541G>T	uc002yld.1	+	c.1594G>T	c.(1594-1596)GTG>TTG	p.V532L	NCAM2_uc011acb.1_Missense_Mutation_p.V390L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	532	Fibronectin type-III 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.326531	45.282703	46.590911	16	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22804541	22804541	10602	21	G	T	T	T	572	44	NCAM2	2	2
APP	351	broad.mit.edu	37	21	27254054	27254054	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27254054C>G	uc002ylz.2	-	c.2240G>C	c.(2239-2241)CGC>CCC	p.R747P	APP_uc011acg.1_Missense_Mutation_p.R255P|APP_uc010glk.2_Missense_Mutation_p.R723P|APP_uc002yma.2_Missense_Mutation_p.R728P|APP_uc011ach.1_Missense_Mutation_p.R691P|APP_uc002ymb.2_Missense_Mutation_p.R672P|APP_uc010glj.2_Missense_Mutation_p.R616P|APP_uc011aci.1_Missense_Mutation_p.R637P	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	747	Cytoplasmic (Potential).|Interaction with G(o)-alpha.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)										OREG0026148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.243902	51.218995	56.081643	20	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27254054	27254054	826	21	C	G	G	G	351	27	APP	3	3
CLDN8	9073	broad.mit.edu	37	21	31588044	31588044	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31588044T>C	uc002ynu.1	-	c.200A>G	c.(199-201)TAT>TGT	p.Y67C		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	67	Extracellular (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.238636	52.649114	58.23587	21	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31588044	31588044	3628	21	T	C	C	C	637	49	CLDN8	4	4
KRTAP13-1	140258	broad.mit.edu	37	21	31768427	31768427	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31768427G>A	uc002yoa.2	+	c.23G>A	c.(22-24)GGA>GAA	p.G8E		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	8						intermediate filament				ovary(1)	1														0.146789	24.602086	37.726891	16	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768427	31768427	8837	21	G	A	A	A	533	41	KRTAP13-1	2	2
KRTAP19-6	337973	broad.mit.edu	37	21	31914037	31914037	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31914037T>C	uc002yok.1	-	c.116A>G	c.(115-117)TAT>TGT	p.Y39C		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	39						intermediate filament					0														0.339869	154.816034	158.302101	52	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31914037	31914037	8848	21	T	C	C	C	637	49	KRTAP19-6	4	4
GART	2618	broad.mit.edu	37	21	34889378	34889378	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34889378G>A	uc002yrx.2	-	c.2025C>T	c.(2023-2025)GTC>GTT	p.V675V	GART_uc002yrz.2_Silent_p.V675V|GART_uc010gmd.2_Silent_p.V337V|GART_uc002yry.2_Silent_p.V675V	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	675	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)									0.268519	73.387469	78.732922	29	79	KEEP	---	---	---	---	capture		Silent	SNP	34889378	34889378	6507	21	G	A	A	A	574	45	GART	2	2
DOPEY2	9980	broad.mit.edu	37	21	37665644	37665644	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37665644C>T	uc002yvg.2	+	c.6672C>T	c.(6670-6672)ACC>ACT	p.T2224T	DOPEY2_uc011aeb.1_Silent_p.T2173T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2224					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.045455	-8.230089	6.334774	3	63	KEEP	---	---	---	---	capture		Silent	SNP	37665644	37665644	4892	21	C	T	T	T	262	21	DOPEY2	2	2
TTC3	7267	broad.mit.edu	37	21	38507791	38507791	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:38507791G>T	uc002yvz.2	+	c.1555G>T	c.(1555-1557)GGT>TGT	p.G519C	TTC3_uc011aee.1_Missense_Mutation_p.G209C|TTC3_uc002ywa.2_Missense_Mutation_p.G519C|TTC3_uc002ywb.2_Missense_Mutation_p.G519C|TTC3_uc010gnf.2_Missense_Mutation_p.G284C|TTC3_uc002ywc.2_Missense_Mutation_p.G209C|TTC3_uc011aed.1_Missense_Mutation_p.G209C|TTC3_uc010gne.1_Missense_Mutation_p.G519C	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	519					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3		Myeloproliferative disorder(46;0.0412)				Ovarian(38;194 1649 35661)								0.378378	42.645897	43.124264	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38507791	38507791	17252	21	G	T	T	T	507	39	TTC3	1	1
KCNJ15	3772	broad.mit.edu	37	21	39672177	39672177	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:39672177C>A	uc002ywv.2	+	c.994C>A	c.(994-996)CAG>AAG	p.Q332K	KCNJ15_uc002yww.2_Missense_Mutation_p.Q332K|KCNJ15_uc002ywx.2_Missense_Mutation_p.Q332K	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	332	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)	4														0.042254	-9.620022	6.338664	3	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39672177	39672177	8354	21	C	A	A	A	221	17	KCNJ15	2	2
TMPRSS2	7113	broad.mit.edu	37	21	42866466	42866466	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42866466C>A	uc010gor.2	-	c.166G>T	c.(166-168)GGA>TGA	p.G56*	TMPRSS2_uc002yzj.2_Nonsense_Mutation_p.G19*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.G19*	NM_001135099	NP_001128571	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 1	19	Cytoplasmic (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2058)|TMPRSS2/ETV1(24)	prostate(2082)|central_nervous_system(1)	2083		Prostate(19;4.48e-07)|all_epithelial(19;0.031)								848				0.236842	23.956123	26.360801	9	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42866466	42866466	16788	21	C	A	A	A	273	21	TMPRSS2	5	2
UMODL1	89766	broad.mit.edu	37	21	43531679	43531679	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43531679C>T	uc002zag.1	+	c.2347C>T	c.(2347-2349)CAC>TAC	p.H783Y	UMODL1_uc002zad.1_Missense_Mutation_p.H583Y|UMODL1_uc002zae.1_Missense_Mutation_p.H711Y|UMODL1_uc002zaf.1_Missense_Mutation_p.H655Y	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	708	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)								0.435897	49.471089	49.610228	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43531679	43531679	17538	21	C	T	T	T	273	21	UMODL1	2	2
CLTCL1	8218	broad.mit.edu	37	22	19230452	19230452	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19230452C>A	uc002zpb.2	-	c.527G>T	c.(526-528)CGT>CTT	p.R176L	CLTCL1_uc011agv.1_Missense_Mutation_p.R176L|CLTCL1_uc011agw.1_Missense_Mutation_p.R176L	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	176	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)									1206				0.181818	9.411356	11.4846	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19230452	19230452	3705	22	C	A	A	A	247	19	CLTCL1	1	1
ZNF74	7625	broad.mit.edu	37	22	20761064	20761064	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:20761064G>T	uc010gsm.2	+	c.1741G>T	c.(1741-1743)GGG>TGG	p.G581W	ZNF74_uc002zsg.2_Missense_Mutation_p.G510W|ZNF74_uc002zsh.2_Missense_Mutation_p.G581W|ZNF74_uc002zsi.2_Missense_Mutation_p.G510W|ZNF74_uc010gsn.2_Missense_Mutation_p.G510W	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)											0.470588	49.397409	49.422999	16	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20761064	20761064	18725	22	G	T	T	T	559	43	ZNF74	2	2
GNAZ	2781	broad.mit.edu	37	22	23437951	23437951	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:23437951G>T	uc002zwu.1	+	c.69G>T	c.(67-69)CTG>CTT	p.L23L	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	23						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)										0.574468	83.519313	83.749332	27	20	KEEP	---	---	---	---	capture		Silent	SNP	23437951	23437951	6783	22	G	T	T	T	587	46	GNAZ	2	2
OSM	5008	broad.mit.edu	37	22	30660402	30660402	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30660402G>T	uc003ahb.2	-	c.229C>A	c.(229-231)CGC>AGC	p.R77S		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	77					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of acute inflammatory response|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding				0			Epithelial(10;0.206)											0.291667	18.916936	19.849018	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30660402	30660402	11702	22	G	T	T	T	494	38	OSM	1	1
CSF2RB	1439	broad.mit.edu	37	22	37333941	37333941	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37333941G>A	uc003aqc.3	+	c.2109G>A	c.(2107-2109)ATG>ATA	p.M703I	CSF2RB_uc003aqa.3_Missense_Mutation_p.M697I	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	697	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			pancreas(1)	1					Sargramostim(DB00020)									0.307692	31.594129	32.875076	12	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37333941	37333941	4076	22	G	A	A	A	585	45	CSF2RB	2	2
NFAM1	150372	broad.mit.edu	37	22	42805469	42805469	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42805469A>T	uc003bcn.3	-	c.536T>A	c.(535-537)GTG>GAG	p.V179E		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	179	Helical; (Potential).				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.084507	1.900858	14.337988	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42805469	42805469	10758	22	A	T	T	T	78	6	NFAM1	3	3
GTSE1	51512	broad.mit.edu	37	22	46704833	46704833	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46704833C>A	uc011aqy.1	+	c.755C>A	c.(754-756)GCG>GAG	p.A252E	GTSE1_uc011aqz.1_Missense_Mutation_p.A99E	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	233					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GBM(153;542 1915 12487 29016 50495)			p.A233V(EFM19-Tumor)|p.A233V(NCIH2196-Tumor)	471				0.085714	1.125073	7.190216	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46704833	46704833	7165	22	C	A	A	A	351	27	GTSE1	1	1
GRHL1	29841	broad.mit.edu	37	2	10102598	10102598	+	Silent	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:10102598G>C	uc002raa.2	+	c.684G>C	c.(682-684)TCG>TCC	p.S228S	GRHL1_uc002rab.2_Non-coding_Transcript|GRHL1_uc002rad.2_Intron|GRHL1_uc010yjb.1_Silent_p.S77S	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	228					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)										0.115385	2.60546	6.415599	3	23	KEEP	---	---	---	---	capture		Silent	SNP	10102598	10102598	7041	2	G	C	C	C	496	39	GRHL1	3	3
UXS1	80146	broad.mit.edu	37	2	106761802	106761803	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:106761802_106761803CC>AA	uc002tdn.2	-	c.315_316GG>TT	c.(313-318)GTGGGC>GTTTGC	p.G106C	UXS1_uc002tdm.2_Missense_Mutation_p.G101C|UXS1_uc002tdo.2_Missense_Mutation_p.G44C|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	101	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2														0.333333	27.285402	28.001109	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	106761802	106761803	17674	2	CC	AA	AA	AA	286	22	UXS1	2	2
DPP10	57628	broad.mit.edu	37	2	116485391	116485391	+	Splice_Site_SNP	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116485391G>C	uc002tle.2	+	c.589_splice	c.e8-1	p.I197_splice	DPP10_uc002tla.1_Splice_Site_SNP_p.I193_splice|DPP10_uc002tlb.1_Splice_Site_SNP_p.I143_splice|DPP10_uc002tlc.1_Splice_Site_SNP_p.I189_splice|DPP10_uc002tlf.1_Splice_Site_SNP_p.I186_splice	NM_001004360	NP_001004360			dipeptidyl peptidase 10 isoform short						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.333333	37.386275	38.272761	12	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	116485391	116485391	4911	2	G	C	C	C	429	33	DPP10	5	3
MARCO	8685	broad.mit.edu	37	2	119727764	119727765	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:119727764_119727765CC>AA	uc002tln.1	+	c.274_275CC>AA	c.(274-276)CCG>AAG	p.P92K	MARCO_uc010yyf.1_Missense_Mutation_p.P14K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	92	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)								0.230769	29.280754	32.729922	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	119727764	119727765	9694	2	CC	AA	AA	AA	286	22	MARCO	2	2
MKI67IP	84365	broad.mit.edu	37	2	122486106	122486106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122486106G>A	uc002tnk.2	-	c.571C>T	c.(571-573)CAG>TAG	p.Q191*		NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	MKI67 interacting nucleolar phosphoprotein	191					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding				0														0.3	30.583524	32.013751	12	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	122486106	122486106	9989	2	G	A	A	A	624	48	MKI67IP	5	2
LCT	3938	broad.mit.edu	37	2	136561527	136561527	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136561527C>A	uc002tuu.1	-	c.4636G>T	c.(4636-4638)GGC>TGC	p.G1546C		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1546	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.275862	19.457418	20.793603	8	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136561527	136561527	9017	2	C	A	A	A	286	22	LCT	2	2
LRP1B	53353	broad.mit.edu	37	2	141680663	141680663	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141680663C>T	uc002tvj.1	-	c.3190G>A	c.(3190-3192)GGT>AGT	p.G1064S	LRP1B_uc010fnl.1_Missense_Mutation_p.G246S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1064	Extracellular (Potential).|LDL-receptor class A 8.				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)			0.238095	35.210632	39.14697	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141680663	141680663	9328	2	C	T	T	T	273	21	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141986816	141986816	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141986816G>C	uc002tvj.1	-	c.786C>G	c.(784-786)ATC>ATG	p.I262M	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	262	Extracellular (Potential).|LDL-receptor class B 1.				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)			0.315789	75.074675	77.367435	24	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141986816	141986816	9328	2	G	C	C	C	525	41	LRP1B	3	3
PXDN	7837	broad.mit.edu	37	2	1642638	1642638	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1642638T>C	uc002qxa.2	-	c.4186A>G	c.(4186-4188)ATC>GTC	p.I1396V		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1396					extracellular matrix organization|hydrogen peroxide catabolic process|immune response|oxidation-reduction process	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)						2093				0.227273	22.153004	25.139026	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1642638	1642638	13305	2	T	C	C	C	663	51	PXDN	4	4
GALNT3	2591	broad.mit.edu	37	2	166605329	166605329	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166605329C>G	uc010fph.1	-	c.1864G>C	c.(1864-1866)GAT>CAT	p.D622H		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	622	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3														0.115385	5.307739	9.093847	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166605329	166605329	6478	2	C	G	G	G	416	32	GALNT3	3	3
LRP2	4036	broad.mit.edu	37	2	170002265	170002265	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170002265T>C	uc002ues.2	-	c.12980A>G	c.(12979-12981)AAT>AGT	p.N4327S		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4327	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				0.306452	57.601923	59.672866	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170002265	170002265	9329	2	T	C	C	C	676	52	LRP2	4	4
TTN	7273	broad.mit.edu	37	2	179449567	179449567	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179449567C>T	uc010zfg.1	-	c.57097G>A	c.(57097-57099)GAT>AAT	p.D19033N	TTN_uc010zfh.1_Missense_Mutation_p.D12728N|TTN_uc010zfi.1_Missense_Mutation_p.D12661N|TTN_uc010zfj.1_Missense_Mutation_p.D12536N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2484										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				0.095808	7.100692	34.450907	16	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179449567	179449567	17290	2	C	T	T	T	377	29	TTN	2	2
MARS2	92935	broad.mit.edu	37	2	198571111	198571111	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198571111G>T	uc002uuq.2	+	c.982G>T	c.(982-984)GGC>TGC	p.G328C		NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)	2					L-Methionine(DB00134)									0.274854	132.897919	140.675641	47	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198571111	198571111	9700	2	G	T	T	T	507	39	MARS2	1	1
MARS2	92935	broad.mit.edu	37	2	198571470	198571470	+	Nonsense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198571470T>A	uc002uuq.2	+	c.1341T>A	c.(1339-1341)TAT>TAA	p.Y447*		NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	447					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)	2					L-Methionine(DB00134)									0.278846	83.860364	88.417119	29	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	198571470	198571470	9700	2	T	A	A	A	660	51	MARS2	5	3
MAP2	4133	broad.mit.edu	37	2	210561338	210561338	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:210561338G>T	uc002vde.1	+	c.4253G>T	c.(4252-4254)CGG>CTG	p.R1418L	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1414L	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1418					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|large_intestine(2)|pancreas(2)|central_nervous_system(1)	14		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	Pancreas(27;423 979 28787 29963)								0.234375	39.430389	43.535696	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210561338	210561338	9618	2	G	T	T	T	507	39	MAP2	1	1
APOB	338	broad.mit.edu	37	2	21233969	21233969	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21233969G>T	uc002red.2	-	c.5771C>A	c.(5770-5772)ACT>AAT	p.T1924N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1924					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)									0.288889	145.8527	153.029087	52	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21233969	21233969	796	2	G	T	T	T	468	36	APOB	2	2
APOB	338	broad.mit.edu	37	2	21251356	21251356	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21251356G>T	uc002red.2	-	c.1672C>A	c.(1672-1674)CGA>AGA	p.R558R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	558	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.34188	119.774441	122.354424	40	77	KEEP	---	---	---	---	capture		Silent	SNP	21251356	21251356	796	2	G	T	T	T	493	38	APOB	1	1
ERBB4	2066	broad.mit.edu	37	2	212522507	212522507	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212522507C>A	uc002veg.1	-	c.1918G>T	c.(1918-1920)GGC>TGC	p.G640C	ERBB4_uc002veh.1_Missense_Mutation_p.G640C|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.G640C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	640	Extracellular (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)			0.272727	37.016487	39.56842	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212522507	212522507	5402	2	C	A	A	A	286	22	ERBB4	2	2
PTPRN	5798	broad.mit.edu	37	2	220162048	220162048	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220162048G>T	uc002vkz.2	-	c.1995C>A	c.(1993-1995)GCC>GCA	p.A665A	PTPRN_uc010zlc.1_Silent_p.A575A|PTPRN_uc002vla.2_Silent_p.A636A	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	665	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)										0.315068	59.996209	62.218813	23	50	KEEP	---	---	---	---	capture		Silent	SNP	220162048	220162048	13264	2	G	T	T	T	548	43	PTPRN	2	2
SPEG	10290	broad.mit.edu	37	2	220344800	220344800	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220344800A>T	uc010fwg.2	+	c.5280A>T	c.(5278-5280)ACA>ACT	p.T1760T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1760	Protein kinase 1.				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				0.25	39.909068	43.310773	15	45	KEEP	---	---	---	---	capture		Silent	SNP	220344800	220344800	15548	2	A	T	T	T	67	6	SPEG	3	3
SPEG	10290	broad.mit.edu	37	2	220354290	220354290	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220354290G>A	uc010fwg.2	+	c.8550G>A	c.(8548-8550)AGG>AGA	p.R2850R		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2850	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				0.315315	93.303599	96.665854	35	76	KEEP	---	---	---	---	capture		Silent	SNP	220354290	220354290	15548	2	G	A	A	A	555	43	SPEG	2	2
SLC4A3	6508	broad.mit.edu	37	2	220494042	220494042	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220494042G>T	uc002vmo.3	+	c.394G>T	c.(394-396)GCT>TCT	p.A132S	SLC4A3_uc002vmn.2_Missense_Mutation_p.A132S|SLC4A3_uc002vmp.3_Missense_Mutation_p.A132S|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	132	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)										0.3	21.759386	22.834654	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220494042	220494042	15152	2	G	T	T	T	442	34	SLC4A3	2	2
SLC19A3	80704	broad.mit.edu	37	2	228566913	228566913	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228566913C>A	uc002vpi.2	-	c.122G>T	c.(121-123)GGA>GTA	p.G41V	SLC19A3_uc002vpj.2_Non-coding_Transcript|SLC19A3_uc010zlv.1_5'UTR	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	41	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)									0.305556	86.791413	90.403067	33	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228566913	228566913	14926	2	C	A	A	A	390	30	SLC19A3	2	2
CHRND	1144	broad.mit.edu	37	2	233391331	233391331	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233391331G>T	uc002vsw.2	+	c.145G>T	c.(145-147)GAG>TAG	p.E49*	CHRND_uc010zmg.1_Nonsense_Mutation_p.E49*|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	49	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)										0.206897	34.886112	41.843291	18	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	233391331	233391331	3528	2	G	T	T	T	429	33	CHRND	5	2
UGT1A3	54659	broad.mit.edu	37	2	234637908	234637908	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234637908G>C	uc002vuy.2	+	c.136G>C	c.(136-138)GAG>CAG	p.E46Q	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.E46Q	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	46					flavonoid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.28	39.830033	42.004966	14	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234637908	234637908	17504	2	G	C	C	C	533	41	UGT1A3	3	3
SPP2	6694	broad.mit.edu	37	2	234967486	234967486	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234967486G>T	uc002vvk.1	+	c.217G>T	c.(217-219)GTC>TTC	p.V73F	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	73					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)										0.315789	66.822066	69.08996	24	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234967486	234967486	15600	2	G	T	T	T	572	44	SPP2	2	2
KIF1A	547	broad.mit.edu	37	2	241706739	241706739	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241706739G>T	uc010fzk.2	-	c.1521C>A	c.(1519-1521)AAC>AAA	p.N507K	KIF1A_uc002vzy.2_Missense_Mutation_p.N498K|KIF1A_uc002vzz.1_Missense_Mutation_p.N507K	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	498					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)										0.291667	20.627801	21.55343	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241706739	241706739	8594	2	G	T	T	T	516	40	KIF1A	1	1
C2orf85	285093	broad.mit.edu	37	2	242814381	242814382	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242814381_242814382CT>AA	uc010fzu.1	+	c.674_675CT>AA	c.(673-675)CCT>CAA	p.P225Q		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	225						integral to membrane				ovary(1)	1														0.358974	39.541843	40.223579	14	25	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	242814381	242814382	2292	2	CT	AA	AA	AA	312	24	C2orf85	2	2
DNMT3A	1788	broad.mit.edu	37	2	25470539	25470539	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25470539G>A	uc002rgc.2	-	c.935C>T	c.(934-936)TCT>TTT	p.S312F	DNMT3A_uc002rgd.2_Missense_Mutation_p.S312F|DNMT3A_uc010eyi.2_Non-coding_Transcript|DNMT3A_uc002rgb.2_Missense_Mutation_p.S123F	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	312	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.333333	52.003103	53.40679	19	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25470539	25470539	4859	2	G	A	A	A	429	33	DNMT3A	2	2
DTNB	1838	broad.mit.edu	37	2	25754371	25754371	+	Silent	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25754371T>C	uc002rgh.2	-	c.972A>G	c.(970-972)CCA>CCG	p.P324P	DTNB_uc010yko.1_Silent_p.P267P|DTNB_uc010ykp.1_Silent_p.P120P|DTNB_uc002rgo.2_Silent_p.P145P|DTNB_uc002rgi.2_Silent_p.P324P|DTNB_uc002rgj.2_Silent_p.P324P|DTNB_uc002rgk.2_Silent_p.P324P|DTNB_uc002rgl.2_Silent_p.P324P|DTNB_uc002rgq.2_Silent_p.P324P|DTNB_uc002rgm.2_Silent_p.P324P|DTNB_uc002rgn.2_Silent_p.P120P|DTNB_uc002rgr.1_Silent_p.P313P|DTNB_uc010ykq.1_Silent_p.P177P	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	324						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.237624	55.035012	61.403227	24	77	KEEP	---	---	---	---	capture		Silent	SNP	25754371	25754371	4974	2	T	C	C	C	704	55	DTNB	4	4
PLB1	151056	broad.mit.edu	37	2	28841261	28841261	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28841261C>A	uc002rmb.1	+	c.3310C>A	c.(3310-3312)CTG>ATG	p.L1104M	PLB1_uc010ezj.1_Missense_Mutation_p.L1093M|PLB1_uc002rme.1_Missense_Mutation_p.L69M|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1104	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				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)													0.283019	38.800163	41.04338	15	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28841261	28841261	12450	2	C	A	A	A	415	32	PLB1	2	2
XDH	7498	broad.mit.edu	37	2	31609340	31609340	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31609340G>T	uc002rnv.1	-	c.733C>A	c.(733-735)CTG>ATG	p.L245M		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	245	FAD-binding PCMH-type.				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)								0.333333	51.204229	52.607353	19	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31609340	31609340	18007	2	G	T	T	T	438	34	XDH	2	2
STRN	6801	broad.mit.edu	37	2	37111118	37111118	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37111118G>T	uc002rpn.2	-	c.1143C>A	c.(1141-1143)AGC>AGA	p.S381R	STRN_uc010ezx.2_Missense_Mutation_p.S344R	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	381					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(717;0.0129)|all_hematologic(82;0.21)												0.235294	19.482328	21.661506	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37111118	37111118	15849	2	G	T	T	T	594	46	STRN	2	2
ABCG8	64241	broad.mit.edu	37	2	44078951	44078951	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44078951G>T	uc002rtq.2	+	c.551G>T	c.(550-552)CGT>CTT	p.R184L	ABCG8_uc010yoa.1_Missense_Mutation_p.R184L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	184	ABC transporter.|Cytoplasmic (Potential).		R -> H (in SITOST).		cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.27907	64.1821	67.948646	24	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44078951	44078951	73	2	G	T	T	T	520	40	ABCG8	1	1
RTN4	57142	broad.mit.edu	37	2	55252705	55252705	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55252705C>A	uc002rye.2	-	c.2530G>T	c.(2530-2532)GAC>TAC	p.D844Y	RTN4_uc002ryd.2_Missense_Mutation_p.D638Y|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	844	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3														0.123288	9.520388	19.663467	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55252705	55252705	14208	2	C	A	A	A	377	29	RTN4	2	2
SMEK2	57223	broad.mit.edu	37	2	55808792	55808792	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55808792C>T	uc002rzc.2	-	c.1276G>A	c.(1276-1278)GAT>AAT	p.D426N	SMEK2_uc002rzb.2_Missense_Mutation_p.D426N|SMEK2_uc002rzd.2_Missense_Mutation_p.D426N|SMEK2_uc002rza.2_Missense_Mutation_p.D302N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	426						microtubule organizing center|nucleus	protein binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)											0.054795	-7.501663	7.694055	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55808792	55808792	15292	2	C	T	T	T	377	29	SMEK2	2	2
BMP10	27302	broad.mit.edu	37	2	69093072	69093072	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69093072G>A	uc002sez.1	-	c.966C>T	c.(964-966)TAC>TAT	p.Y322Y		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	322					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.333333	41.721019	42.822614	15	30	KEEP	---	---	---	---	capture		Silent	SNP	69093072	69093072	1482	2	G	A	A	A	464	36	BMP10	2	2
ZNF638	27332	broad.mit.edu	37	2	71632734	71632734	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71632734G>T	uc002shx.2	+	c.2962G>T	c.(2962-2964)GCT>TCT	p.A988S	ZNF638_uc010yqw.1_Missense_Mutation_p.A567S|ZNF638_uc002shy.2_Missense_Mutation_p.A988S|ZNF638_uc002shz.2_Missense_Mutation_p.A988S|ZNF638_uc002sia.2_Missense_Mutation_p.A988S|ZNF638_uc002sib.1_Missense_Mutation_p.A988S|ZNF638_uc010fed.2_Non-coding_Transcript|ZNF638_uc002sic.2_Missense_Mutation_p.A85S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	988					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)	3														0.307692	40.459376	42.186962	16	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71632734	71632734	18650	2	G	T	T	T	442	34	ZNF638	2	2
MOGS	7841	broad.mit.edu	37	2	74689728	74689728	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74689728G>A	uc010ffj.2	-	c.1188C>T	c.(1186-1188)AGC>AGT	p.S396S	MOGS_uc010ffh.2_Silent_p.S121S|MOGS_uc010yrt.1_Silent_p.S277S|MOGS_uc010ffi.2_Silent_p.S290S	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	396	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0														0.051429	-20.821586	16.446191	9	166	KEEP	---	---	---	---	capture		Silent	SNP	74689728	74689728	10088	2	G	A	A	A	490	38	MOGS	1	1
DQX1	165545	broad.mit.edu	37	2	74751135	74751135	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74751135C>T	uc010yrw.1	-	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	DQX1_uc002smc.2_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	244						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2														0.074074	-0.537197	9.519517	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74751135	74751135	4935	2	C	T	T	T	299	23	DQX1	1	1
REG3G	130120	broad.mit.edu	37	2	79253232	79253232	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79253232A>G	uc002snw.2	+	c.13A>G	c.(13-15)ATG>GTG	p.M5V	REG3G_uc002snx.2_Missense_Mutation_p.M5V|REG3G_uc010ffu.2_Missense_Mutation_p.M5V	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	5					acute-phase response	extracellular region	sugar binding				0														0.3125	26.337374	27.339496	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79253232	79253232	13682	2	A	G	G	G	104	8	REG3G	4	4
ZNF2	7549	broad.mit.edu	37	2	95847613	95847613	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95847613G>T	uc002suf.2	+	c.1037G>T	c.(1036-1038)TGT>TTT	p.C346F	ZNF2_uc002sug.2_Missense_Mutation_p.C304F|ZNF2_uc010yue.1_Missense_Mutation_p.C309F|ZNF2_uc010fhs.2_Missense_Mutation_p.C267F	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	346	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)										0.392405	89.535789	90.324996	31	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95847613	95847613	18351	2	G	T	T	T	624	48	ZNF2	2	2
ASTL	431705	broad.mit.edu	37	2	96789930	96789930	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96789930C>A	uc010yui.1	-	c.955G>T	c.(955-957)GAA>TAA	p.E319*		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	319					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.292683	29.716566	31.275907	12	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96789930	96789930	1082	2	C	A	A	A	390	30	ASTL	5	2
IMPG2	50939	broad.mit.edu	37	3	100962638	100962638	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100962638C>A	uc003duq.1	-	c.2537G>T	c.(2536-2538)GGC>GTC	p.G846V	IMPG2_uc011bhe.1_Missense_Mutation_p.G709V	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	846	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.330357	104.803826	107.627483	37	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100962638	100962638	8030	3	C	A	A	A	338	26	IMPG2	2	2
BBX	56987	broad.mit.edu	37	3	107524268	107524268	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107524268G>T	uc010hpr.2	+	c.2790G>T	c.(2788-2790)CCG>CCT	p.P930P	BBX_uc003dwk.3_Silent_p.P900P|BBX_uc003dwl.3_Missense_Mutation_p.R594L|BBX_uc003dwm.3_Silent_p.P900P|BBX_uc003dwo.3_Missense_Mutation_p.R247L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(3;0.112)											0.286957	93.950795	98.618876	33	82	KEEP	---	---	---	---	capture		Silent	SNP	107524268	107524268	1364	3	G	T	T	T	483	38	BBX	1	1
DZIP3	9666	broad.mit.edu	37	3	108363427	108363427	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108363427G>T	uc003dxd.2	+	c.1558G>T	c.(1558-1560)GGT>TGT	p.G520C	DZIP3_uc003dxf.1_Missense_Mutation_p.G520C|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.G520C|DZIP3_uc003dxg.1_Missense_Mutation_p.G243C	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	520					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.278261	82.314365	87.363728	32	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108363427	108363427	5051	3	G	T	T	T	611	47	DZIP3	2	2
GUCA1C	9626	broad.mit.edu	37	3	108626994	108626994	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108626994C>A	uc003dxj.2	-	c.505G>T	c.(505-507)GTT>TTT	p.V169F	GUCA1C_uc003dxk.2_Missense_Mutation_p.C182F	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	169					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						NSCLC(157;1360 1999 30631 40189 44208)								0.229167	27.298685	30.529878	11	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108626994	108626994	7170	3	C	A	A	A	221	17	GUCA1C	2	2
IGSF11	152404	broad.mit.edu	37	3	118624546	118624546	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118624546G>T	uc003ebw.2	-	c.600C>A	c.(598-600)GTC>GTA	p.V200V	IGSF11_uc011biv.1_Silent_p.V200V|IGSF11_uc003ebx.2_Silent_p.V200V|IGSF11_uc003eby.2_Silent_p.V199V|IGSF11_uc003ebz.2_Silent_p.V199V|IGSF11_uc010hqs.2_Silent_p.V199V	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	200	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.259259	31.317337	34.159985	14	40	KEEP	---	---	---	---	capture		Silent	SNP	118624546	118624546	7899	3	G	T	T	T	574	45	IGSF11	2	2
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123452795C>T	uc003ego.2	-	c.1048G>A	c.(1048-1050)GCA>ACA	p.A350T	MYLK_uc011bjw.1_Missense_Mutation_p.A350T|MYLK_uc003egp.2_Missense_Mutation_p.A350T|MYLK_uc003egq.2_Missense_Mutation_p.A350T|MYLK_uc003egr.2_Missense_Mutation_p.A350T|MYLK_uc003egs.2_Missense_Mutation_p.A174T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	350					aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.036036	-17.91982	7.939161	4	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123452795	123452795	10451	3	C	T	T	T	351	27	MYLK	1	1
PPARG	5468	broad.mit.edu	37	3	12475578	12475578	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12475578C>A	uc003bwx.2	+	c.1452C>A	c.(1450-1452)ATC>ATA	p.I484I	PPARG_uc003bwr.2_Silent_p.I456I|PPARG_uc003bws.2_Silent_p.I456I|PPARG_uc003bwu.2_Silent_p.I456I|PPARG_uc003bwv.2_3'UTR	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	484	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|placenta development|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of blood pressure|regulation of cholesterol transporter activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|promoter binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|steroid hormone receptor activity|transcription activator activity|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)					191				0.238095	23.476721	26.169099	10	32	KEEP	---	---	---	---	capture		Silent	SNP	12475578	12475578	12729	3	C	A	A	A	369	29	PPARG	2	2
IL20RB	53833	broad.mit.edu	37	3	136714381	136714381	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:136714381G>A	uc003eri.1	+	c.808G>A	c.(808-810)GTC>ATC	p.V270I	IL20RB_uc003erj.1_Non-coding_Transcript|IL20RB_uc010hud.1_Missense_Mutation_p.V128I	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta precursor	270	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.238462	139.543125	155.875713	62	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136714381	136714381	7970	3	G	A	A	A	572	44	IL20RB	2	2
ARMC8	25852	broad.mit.edu	37	3	137960639	137960639	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137960639G>T	uc003esa.1	+	c.810G>T	c.(808-810)TTG>TTT	p.L270F	ARMC8_uc003erw.2_Missense_Mutation_p.L270F|ARMC8_uc003erx.2_Missense_Mutation_p.L270F|ARMC8_uc003ery.2_Missense_Mutation_p.L242F|ARMC8_uc003erz.2_Missense_Mutation_p.L242F|ARMC8_uc011bmf.1_Missense_Mutation_p.L253F|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Missense_Mutation_p.L211F|ARMC8_uc003esb.1_Missense_Mutation_p.L242F|ARMC8_uc003esc.1_Missense_Mutation_p.L42F	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	284	ARM 6.						binding				0														0.362069	62.057082	63.029033	21	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137960639	137960639	975	3	G	T	T	T	607	47	ARMC8	2	2
C3orf20	84077	broad.mit.edu	37	3	14763190	14763190	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14763190G>T	uc003byy.2	+	c.1465G>T	c.(1465-1467)GGA>TGA	p.G489*	C3orf20_uc003byz.2_Nonsense_Mutation_p.G367*|C3orf20_uc003bza.2_Nonsense_Mutation_p.G367*|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	489						cytoplasm|integral to membrane				ovary(3)	3														0.35514	102.211549	104.193143	38	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	14763190	14763190	2306	3	G	T	T	T	559	43	C3orf20	5	2
P2RY1	5028	broad.mit.edu	37	3	152554645	152554645	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:152554645C>T	uc003ezq.2	+	c.1074C>T	c.(1072-1074)ACC>ACT	p.T358T		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	358	Cytoplasmic (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)											0.377358	62.096315	62.792333	20	33	KEEP	---	---	---	---	capture		Silent	SNP	152554645	152554645	11759	3	C	T	T	T	275	22	P2RY1	2	2
GPR149	344758	broad.mit.edu	37	3	154147360	154147360	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154147360C>A	uc003faa.2	-	c.45G>T	c.(43-45)CTG>CTT	p.L15L		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	15	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.291139	62.390644	65.479582	23	56	KEEP	---	---	---	---	capture		Silent	SNP	154147360	154147360	6929	3	C	A	A	A	210	17	GPR149	2	2
COLQ	8292	broad.mit.edu	37	3	15531040	15531040	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15531040G>T	uc003bzx.2	-	c.211C>A	c.(211-213)CGA>AGA	p.R71R	HACL1_uc011avr.1_Non-coding_Transcript|COLQ_uc003bzv.2_Silent_p.R61R|COLQ_uc003bzz.2_Silent_p.R71R|COLQ_uc010heo.2_Silent_p.R71R|COLQ_uc003cac.1_Non-coding_Transcript|COLQ_uc003cae.1_5'UTR|COLQ_uc003cad.1_Non-coding_Transcript	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	71					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synapse					0														0.341463	43.654716	44.557139	14	27	KEEP	---	---	---	---	capture		Silent	SNP	15531040	15531040	3851	3	G	T	T	T	506	39	COLQ	1	1
IQCJ	654502	broad.mit.edu	37	3	158983125	158983125	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:158983125C>T	uc003fcp.1	+	c.413C>T	c.(412-414)CCC>CTC	p.P138L	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.P111L	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	138											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)											0.236842	45.73617	50.529461	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158983125	158983125	8115	3	C	T	T	T	286	22	IQCJ	2	2
SLITRK3	22865	broad.mit.edu	37	3	164908507	164908507	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164908507C>G	uc003fej.3	-	c.112G>C	c.(112-114)GAG>CAG	p.E38Q	SLITRK3_uc003fek.2_Missense_Mutation_p.E38Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	38	Extracellular (Potential).					integral to membrane				ovary(6)|pancreas(1)	7														0.233766	50.77089	55.724955	18	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164908507	164908507	15242	3	C	G	G	G	416	32	SLITRK3	3	3
KLHL6	89857	broad.mit.edu	37	3	183273169	183273169	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183273169G>T	uc003flr.2	-	c.273C>A	c.(271-273)GCC>GCA	p.A91A	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Silent_p.A89A	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	91	BTB.									ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)											0.327586	57.529695	59.046157	19	39	KEEP	---	---	---	---	capture		Silent	SNP	183273169	183273169	8707	3	G	T	T	T	496	39	KLHL6	1	1
ARPP21	10777	broad.mit.edu	37	3	35781039	35781039	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35781039G>C	uc011axy.1	+	c.1878G>C	c.(1876-1878)CAG>CAC	p.Q626H	ARPP21_uc003cga.2_Missense_Mutation_p.Q606H|ARPP21_uc003cgb.2_Missense_Mutation_p.Q625H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q461H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q148H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	625	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)	2														0.131579	7.062899	12.064102	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35781039	35781039	996	3	G	C	C	C	451	35	ARPP21	3	3
TRAK1	22906	broad.mit.edu	37	3	42226214	42226214	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42226214A>T	uc003cky.2	+	c.401A>T	c.(400-402)CAG>CTG	p.Q134L	TRAK1_uc011azh.1_Missense_Mutation_p.Q134L|TRAK1_uc011azi.1_Missense_Mutation_p.Q134L|TRAK1_uc003ckz.3_Missense_Mutation_p.Q60L|TRAK1_uc011azj.1_Missense_Mutation_p.Q60L|TRAK1_uc003cla.2_Missense_Mutation_p.Q76L	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	134	Potential.|HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.333333	112.695973	115.56931	39	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42226214	42226214	16993	3	A	T	T	T	91	7	TRAK1	3	3
CHL1	10752	broad.mit.edu	37	3	440756	440756	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:440756T>A	uc003bot.2	+	c.3310T>A	c.(3310-3312)TGT>AGT	p.C1104S	CHL1_uc003bou.2_Missense_Mutation_p.C1088S|CHL1_uc003bow.1_Missense_Mutation_p.C1088S|CHL1_uc011asi.1_Missense_Mutation_p.C1051S	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1088	Helical; (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.256	89.548101	96.292601	32	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	440756	440756	3483	3	T	A	A	A	767	59	CHL1	3	3
CCR3	1232	broad.mit.edu	37	3	46307361	46307361	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46307361A>G	uc003cpl.1	+	c.811A>G	c.(811-813)ATC>GTC	p.I271V	CCR3_uc003cpg.1_Missense_Mutation_p.I238V|CCR3_uc003cpi.1_Missense_Mutation_p.I238V|CCR3_uc003cpj.1_Missense_Mutation_p.I238V|CCR3_uc003cpk.1_Missense_Mutation_p.I259V|CCR3_uc010hjb.1_Missense_Mutation_p.I256V	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	238	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(2)|kidney(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)						19				0.345455	52.946777	54.088685	19	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46307361	46307361	3069	3	A	G	G	G	104	8	CCR3	4	4
LTF	4057	broad.mit.edu	37	3	46492017	46492017	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46492017C>G	uc003cpq.2	-	c.850G>C	c.(850-852)GAT>CAT	p.D284H	LTF_uc003fzr.2_Missense_Mutation_p.D240H|LTF_uc010hjh.2_Missense_Mutation_p.D284H|LTF_uc003cpr.2_Missense_Mutation_p.D271H	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	284	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)									0.416667	32.348588	32.493323	10	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46492017	46492017	9455	3	C	G	G	G	390	30	LTF	3	3
COL7A1	1294	broad.mit.edu	37	3	48612109	48612109	+	Splice_Site_SNP	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48612109C>G	uc003ctz.2	-	c.6393_splice	c.e77+1	p.R2131_splice		NM_000094	NP_000085			alpha 1 type VII collagen precursor						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.283333	51.353443	53.880681	17	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48612109	48612109	3842	3	C	G	G	G	234	18	COL7A1	5	3
CELSR3	1951	broad.mit.edu	37	3	48697761	48697761	+	Silent	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48697761T>A	uc003cuf.1	-	c.2517A>T	c.(2515-2517)GCA>GCT	p.A839A	CELSR3_uc003cul.2_Silent_p.A769A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	769	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.291667	38.229214	40.096273	14	34	KEEP	---	---	---	---	capture		Silent	SNP	48697761	48697761	3356	3	T	A	A	A	704	55	CELSR3	3	3
RNF123	63891	broad.mit.edu	37	3	49749945	49749945	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49749945G>A	uc003cxh.2	+	c.2530G>A	c.(2530-2532)GTC>ATC	p.V844I	RNF123_uc010hky.1_Missense_Mutation_p.V506I|RNF123_uc003cxi.2_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	844						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)										0.317073	32.613611	33.807246	13	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49749945	49749945	13910	3	G	A	A	A	520	40	RNF123	1	1
ITIH1	3697	broad.mit.edu	37	3	52825805	52825805	+	Nonsense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52825805C>T	uc003dfs.2	+	c.2614C>T	c.(2614-2616)CAA>TAA	p.Q872*	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_Missense_Mutation_p.A463V|ITIH1_uc010hmo.1_Nonsense_Mutation_p.Q426*|ITIH1_uc003dfu.2_Nonsense_Mutation_p.Q238*|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	872	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)										0.114286	4.104662	9.212751	4	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52825805	52825805	8207	3	C	T	T	T	325	25	ITIH1	5	2
FHIT	2272	broad.mit.edu	37	3	59908137	59908137	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:59908137C>G	uc003dkx.3	-	c.283G>C	c.(283-285)GTT>CTT	p.V95L	FHIT_uc003dky.2_Missense_Mutation_p.V95L|FHIT_uc010hnn.1_Missense_Mutation_p.V95L	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	95	Histidine triad motif.|HIT.|Binding to substrate; phosphate linker.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)					p.V95I(T173-Tumor)	312				0.230769	22.963225	25.548881	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59908137	59908137	6115	3	C	G	G	G	247	19	FHIT	3	3
CADPS	8618	broad.mit.edu	37	3	62751616	62751616	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62751616G>T	uc003dll.2	-	c.485C>A	c.(484-486)GCT>GAT	p.A162D	CADPS_uc003dlm.2_Missense_Mutation_p.A162D|CADPS_uc003dln.2_Missense_Mutation_p.A162D	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	162					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.260417	57.052146	62.040937	25	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62751616	62751616	2686	3	G	T	T	T	442	34	CADPS	2	2
ADAMTS9	56999	broad.mit.edu	37	3	64527523	64527523	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64527523C>A	uc003dmg.2	-	c.5188G>T	c.(5188-5190)GTC>TTC	p.V1730F	ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1702F|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V641F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1730	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.262626	73.805228	78.850558	26	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64527523	64527523	274	3	C	A	A	A	221	17	ADAMTS9	2	2
PDZRN3	23024	broad.mit.edu	37	3	73432672	73432672	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73432672C>A	uc003dpl.1	-	c.3045G>T	c.(3043-3045)ATG>ATT	p.M1015I	PDZRN3_uc011bgh.1_Missense_Mutation_p.M672I|PDZRN3_uc010hoe.1_Missense_Mutation_p.M713I|PDZRN3_uc011bgf.1_Missense_Mutation_p.M732I|PDZRN3_uc011bgg.1_Missense_Mutation_p.M735I	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1015	Potential.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)										0.102881	15.021967	53.293331	25	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73432672	73432672	12130	3	C	A	A	A	377	29	PDZRN3	2	2
EPHA6	285220	broad.mit.edu	37	3	97251300	97251300	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97251300C>A	uc010how.1	+	c.2299C>A	c.(2299-2301)CAA>AAA	p.Q767K	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.Q133K|EPHA6_uc003drs.3_Missense_Mutation_p.Q159K|EPHA6_uc003drr.3_Missense_Mutation_p.Q159K|EPHA6_uc003drt.2_Missense_Mutation_p.Q159K|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	672	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.333333	57.080742	58.556413	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97251300	97251300	5364	3	C	A	A	A	325	25	EPHA6	2	2
ANK2	287	broad.mit.edu	37	4	114277762	114277762	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114277762C>A	uc003ibe.3	+	c.7988C>A	c.(7987-7989)TCC>TAC	p.S2663Y	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2678Y	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2630					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.5	52.422367	52.422367	20	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114277762	114277762	624	4	C	A	A	A	390	30	ANK2	2	2
SCLT1	132320	broad.mit.edu	37	4	129880846	129880846	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:129880846C>A	uc003igp.2	-	c.956G>T	c.(955-957)TGC>TTC	p.C319F	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	319	Potential.					cytoplasm				ovary(3)|central_nervous_system(1)	4														0.488889	134.677634	134.687286	44	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129880846	129880846	14388	4	C	A	A	A	325	25	SCLT1	2	2
BST1	683	broad.mit.edu	37	4	15724522	15724522	+	Silent	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15724522G>C	uc003goh.3	+	c.816G>C	c.(814-816)GTG>GTC	p.V272V	BST1_uc003goi.2_Silent_p.V83V	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	272					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1														0.217949	43.162663	48.861361	17	61	KEEP	---	---	---	---	capture		Silent	SNP	15724522	15724522	1565	4	G	C	C	C	600	47	BST1	3	3
TKTL2	84076	broad.mit.edu	37	4	164394569	164394569	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164394569G>A	uc003iqp.3	-	c.318C>T	c.(316-318)AGC>AGT	p.S106S		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	106						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.347826	22.09385	22.563571	8	15	KEEP	---	---	---	---	capture		Silent	SNP	164394569	164394569	16465	4	G	A	A	A	490	38	TKTL2	1	1
ANP32C	23520	broad.mit.edu	37	4	165118290	165118290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118290C>A	uc011cjk.1	-	c.574G>T	c.(574-576)GAG>TAG	p.E192*	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	192	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.555556	14.275031	14.299153	5	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	165118290	165118290	715	4	C	A	A	A	390	30	ANP32C	5	2
LCORL	254251	broad.mit.edu	37	4	17910869	17910869	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17910869C>A	uc003gpq.2	-	c.530G>T	c.(529-531)GGT>GTT	p.G177V	LCORL_uc011bxk.1_Missense_Mutation_p.G90V	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0														0.256757	47.272382	51.190114	19	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17910869	17910869	9014	4	C	A	A	A	234	18	LCORL	2	2
TLR3	7098	broad.mit.edu	37	4	187004712	187004712	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187004712C>T	uc003iyq.2	+	c.1872C>T	c.(1870-1872)TCC>TCT	p.S624S	TLR3_uc011ckz.1_Silent_p.S347S|TLR3_uc003iyr.2_Silent_p.S347S	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	624	LRR 22.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|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 biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)	2		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)					p.S624S(GCT-Tumor)	155				0.081967	1.03185	11.877508	5	56	KEEP	---	---	---	---	capture		Silent	SNP	187004712	187004712	16482	4	C	T	T	T	288	23	TLR3	1	1
GBA3	57733	broad.mit.edu	37	4	22737808	22737808	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22737808C>A	uc003gqp.3	+	c.263C>A	c.(262-264)ACG>AAG	p.T88K	GBA3_uc010iep.2_Missense_Mutation_p.T88K|GBA3_uc011bxo.1_Missense_Mutation_p.T89K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	88					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0														0.237288	76.068652	83.490591	28	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22737808	22737808	6534	4	C	A	A	A	247	19	GBA3	1	1
GBA3	57733	broad.mit.edu	37	4	22820507	22820507	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22820507C>A	uc003gqp.3	+	c.1371C>A	c.(1369-1371)GCC>GCA	p.A457A	GBA3_uc010iep.2_Silent_p.A150A|GBA3_uc011bxo.1_3'UTR	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	457					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0														0.24	14.946133	16.482896	6	19	KEEP	---	---	---	---	capture		Silent	SNP	22820507	22820507	6534	4	C	A	A	A	262	21	GBA3	2	2
C4orf44	345222	broad.mit.edu	37	4	3255175	3255175	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3255175G>T	uc003ggs.2	+	c.562G>T	c.(562-564)GAC>TAC	p.D188Y	C4orf44_uc003ggt.2_Missense_Mutation_p.D188Y	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	hypothetical protein LOC345222 isoform a	188											0														0.342466	144.759156	147.982273	50	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3255175	3255175	2367	4	G	T	T	T	481	37	C4orf44	1	1
ADRA2C	152	broad.mit.edu	37	4	3769638	3769638	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3769638C>A	uc003ghm.2	+	c.1305C>A	c.(1303-1305)GTC>GTA	p.V435V	ADRA2C_uc010icx.2_Intron	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	435	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	Esophageal Squamous(12;454 628 4517 14479)								0.12	3.714004	7.249835	3	22	KEEP	---	---	---	---	capture		Silent	SNP	3769638	3769638	340	4	C	A	A	A	366	29	ADRA2C	2	2
GRXCR1	389207	broad.mit.edu	37	4	43032469	43032470	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:43032469_43032470GA>TT	uc003gwt.2	+	c.785_786GA>TT	c.(784-786)CGA>CTT	p.R262L		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1														0.33557	154.987872	158.511296	50	99	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43032469	43032470	7092	4	GA	TT	TT	TT	481	37	GRXCR1	1	1
EVC2	132884	broad.mit.edu	37	4	5570329	5570330	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5570329_5570330CA>AT	uc003gij.2	-	c.3398_3399TG>AT	c.(3397-3399)ATG>AAT	p.M1133N	EVC2_uc011bwb.1_Missense_Mutation_p.M573N|EVC2_uc003gik.2_Missense_Mutation_p.M1053N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1133						integral to membrane				large_intestine(3)|ovary(2)	5														0.466667	20.920656	20.935375	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	5570329	5570330	5479	4	CA	AT	AT	AT	273	21	EVC2	2	2
KDR	3791	broad.mit.edu	37	4	55946163	55946163	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55946163G>T	uc003has.2	-	c.4016C>A	c.(4015-4017)ACA>AAA	p.T1339K	KDR_uc003hat.1_Missense_Mutation_p.T1339K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1339	Cytoplasmic (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)				p.T1339I(IALM-Tumor)	1022	TSP Lung(20;0.16)			0.253731	88.303651	95.67025	34	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55946163	55946163	8445	4	G	T	T	T	624	48	KDR	2	2
KDR	3791	broad.mit.edu	37	4	55976691	55976691	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55976691T>A	uc003has.2	-	c.1134A>T	c.(1132-1134)AAA>AAT	p.K378N	KDR_uc003hat.1_Missense_Mutation_p.K378N|KDR_uc011bzx.1_Missense_Mutation_p.K378N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	378	Ig-like C2-type 4.|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)			0.384615	74.358002	75.117252	25	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55976691	55976691	8445	4	T	A	A	A	725	56	KDR	3	3
LPHN3	23284	broad.mit.edu	37	4	62599218	62599218	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62599218A>C	uc010ihh.2	+	c.1141A>C	c.(1141-1143)AAC>CAC	p.N381H	LPHN3_uc003hcq.3_Missense_Mutation_p.N381H|LPHN3_uc010ihg.1_Missense_Mutation_p.N449H|LPHN3_uc003hcs.1_Missense_Mutation_p.N210H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	381	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.185185	13.160711	15.667851	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62599218	62599218	9290	4	A	C	C	C	169	13	LPHN3	4	4
ABLIM2	84448	broad.mit.edu	37	4	8082493	8082493	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8082493T>A	uc003gkj.3	-	c.491A>T	c.(490-492)CAG>CTG	p.Q164L	ABLIM2_uc003gko.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gkm.3_Missense_Mutation_p.Q164L|ABLIM2_uc003gkp.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gkq.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gkr.2_Missense_Mutation_p.Q164L|ABLIM2_uc003gks.3_Missense_Mutation_p.Q164L|ABLIM2_uc011bwl.1_Missense_Mutation_p.Q169L	NM_001130083	NP_001123555	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	164	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3														0.444444	38.997179	39.069709	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8082493	8082493	96	4	T	A	A	A	715	55	ABLIM2	3	3
PKD2	5311	broad.mit.edu	37	4	88973291	88973291	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88973291T>A	uc003hre.2	+	c.1697T>A	c.(1696-1698)GTA>GAA	p.V566E	PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	566	Helical; (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity				0		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)										0.068966	-2.739845	8.398994	4	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88973291	88973291	12391	4	T	A	A	A	741	57	PKD2	3	3
MMRN1	22915	broad.mit.edu	37	4	90833201	90833201	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90833201G>T	uc003hst.2	+	c.850G>T	c.(850-852)GCC>TCC	p.A284S	MMRN1_uc010iku.2_Missense_Mutation_p.A250S|MMRN1_uc011cds.1_Missense_Mutation_p.A26S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	284					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.411765	21.521728	21.637384	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90833201	90833201	10061	4	G	T	T	T	455	35	MMRN1	2	2
PAM	5066	broad.mit.edu	37	5	102285239	102285239	+	Splice_Site_SNP	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:102285239A>G	uc003knt.2	+	c.644_splice	c.e9-2	p.V215_splice	PAM_uc003kns.2_Splice_Site_SNP_p.V215_splice|PAM_uc003knu.2_Splice_Site_SNP_p.V215_splice|PAM_uc003knv.2_Splice_Site_SNP_p.V215_splice|PAM_uc003knw.2_Splice_Site_SNP_p.V215_splice|PAM_uc011cuz.1_Splice_Site_SNP_p.V118_splice	NM_000919	NP_000910			peptidylglycine alpha-amidating monooxygenase						oxidation-reduction process|peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)									0.367347	48.329719	49.089813	18	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	102285239	102285239	11829	5	A	G	G	G	91	7	PAM	5	4
CTNND2	1501	broad.mit.edu	37	5	11346577	11346577	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346577A>T	uc003jfa.1	-	c.1535T>A	c.(1534-1536)GTT>GAT	p.V512D	CTNND2_uc010itt.2_Missense_Mutation_p.V421D|CTNND2_uc011cmy.1_Missense_Mutation_p.V175D|CTNND2_uc011cmz.1_Missense_Mutation_p.V79D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.V79D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	512					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.166667	49.989494	68.332772	29	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346577	11346577	4179	5	A	T	T	T	26	2	CTNND2	3	3
FBN2	2201	broad.mit.edu	37	5	127641291	127641291	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127641291C>A	uc003kuu.2	-	c.5586G>T	c.(5584-5586)CAG>CAT	p.Q1862H		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1862	EGF-like 30; 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				0.380282	76.48585	77.385058	27	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127641291	127641291	5939	5	C	A	A	A	363	28	FBN2	2	2
TGFBI	7045	broad.mit.edu	37	5	135390481	135390481	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135390481G>A	uc003lbf.3	+	c.1341G>A	c.(1339-1341)AAG>AAA	p.K447K	TGFBI_uc003lbg.3_Silent_p.K180K|TGFBI_uc003lbh.3_Silent_p.K273K|TGFBI_uc011cyb.1_Silent_p.K273K|TGFBI_uc010jed.2_Silent_p.K180K	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	447	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.041916	-25.92317	11.952721	7	160	KEEP	---	---	---	---	capture		Silent	SNP	135390481	135390481	16348	5	G	A	A	A	464	36	TGFBI	2	2
WNT8A	7478	broad.mit.edu	37	5	137426515	137426515	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137426515C>T	uc003lcd.1	+	c.809C>T	c.(808-810)ACA>ATA	p.T270I	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.T288I|WNT8A_uc011cyk.1_Missense_Mutation_p.T288I	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	270					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)											0.214286	25.172031	29.395366	12	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137426515	137426515	17970	5	C	T	T	T	221	17	WNT8A	2	2
PCDHA5	56143	broad.mit.edu	37	5	140202495	140202495	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140202495G>A	uc003lhl.2	+	c.1135G>A	c.(1135-1137)GGT>AGT	p.G379S	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_Missense_Mutation_p.G379S|PCDHA5_uc003lhj.1_Missense_Mutation_p.G379S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	379	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.333333	99.48717	102.071663	35	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140202495	140202495	11947	5	G	A	A	A	455	35	PCDHA5	2	2
PCDHB12	56124	broad.mit.edu	37	5	140590432	140590432	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140590432G>T	uc003liz.2	+	c.1953G>T	c.(1951-1953)CCG>CCT	p.P651P	PCDHB12_uc011dak.1_Silent_p.P314P	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	651	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.064103	-3.257037	12.124742	5	73	KEEP	---	---	---	---	capture		Silent	SNP	140590432	140590432	11957	5	G	T	T	T	483	38	PCDHB12	1	1
PCDHB13	56123	broad.mit.edu	37	5	140595689	140595689	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140595689G>T	uc003lja.1	+	c.1994G>T	c.(1993-1995)GGC>GTC	p.G665V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	665	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.298851	58.333434	61.476547	26	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140595689	140595689	11958	5	G	T	T	T	546	42	PCDHB13	2	2
PCDHB14	56122	broad.mit.edu	37	5	140605138	140605138	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605138C>T	uc003ljb.2	+	c.2061C>T	c.(2059-2061)ACC>ACT	p.T687T	PCDHB14_uc011dal.1_Silent_p.T534T	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	687	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.083333	3.651335	26.913469	11	121	KEEP	---	---	---	---	capture		Silent	SNP	140605138	140605138	11959	5	C	T	T	T	288	23	PCDHB14	1	1
PCDHB14	56122	broad.mit.edu	37	5	140605156	140605156	+	Silent	SNP	A	G	G	rs3896534		TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605156A>G	uc003ljb.2	+	c.2079A>G	c.(2077-2079)GCA>GCG	p.A693A	PCDHB14_uc011dal.1_Silent_p.A540A	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	693	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.092025	-2.753567	24.50444	15	148	KEEP	---	---	---	---	capture		Silent	SNP	140605156	140605156	11959	5	A	G	G	G	93	8	PCDHB14	4	4
PCDHGA3	56112	broad.mit.edu	37	5	140723759	140723759	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140723759G>A	uc003ljm.1	+	c.159G>A	c.(157-159)GGG>GGA	p.G53G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.G53G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	53	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)									OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.251613	91.503662	100.161097	39	116	KEEP	---	---	---	---	capture		Silent	SNP	140723759	140723759	11975	5	G	A	A	A	535	42	PCDHGA3	2	2
PCDHGA12	26025	broad.mit.edu	37	5	140811375	140811375	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140811375C>T	uc003lkt.1	+	c.1049C>T	c.(1048-1050)ACC>ATC	p.T350I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T350I	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	350	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.298246	41.031217	43.120559	17	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140811375	140811375	11973	5	C	T	T	T	234	18	PCDHGA12	2	2
PCDHGC5	56097	broad.mit.edu	37	5	140890662	140890662	+	Silent	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140890662A>G	uc003lla.1	+	c.2757A>G	c.(2755-2757)GCA>GCG	p.A919A	PCDHGA1_uc003lji.1_Silent_p.A906A|PCDHGA2_uc003ljk.1_Silent_p.A907A|PCDHGA3_uc003ljm.1_Silent_p.A907A|PCDHGA3_uc010jfx.1_Silent_p.A667A|PCDHGB1_uc003ljo.1_Silent_p.A902A|PCDHGA4_uc003ljq.1_Silent_p.A906A|PCDHGB2_uc003ljs.1_Silent_p.A906A|PCDHGA5_uc003lju.1_Silent_p.A906A|PCDHGB3_uc003ljw.1_Silent_p.A904A|PCDHGA6_uc003ljy.1_Silent_p.A907A|PCDHGA7_uc003lka.1_Silent_p.A907A|PCDHGB4_uc003lkc.1_Silent_p.A898A|PCDHGA8_uc003lkd.1_Silent_p.A907A|PCDHGB5_uc003lkf.1_Silent_p.A898A|PCDHGA9_uc003lkh.1_Silent_p.A907A|PCDHGB6_uc003lkj.1_Silent_p.A905A|PCDHGA10_uc003lkl.1_Silent_p.A911A|PCDHGB7_uc003lkn.1_Silent_p.A904A|PCDHGA11_uc003lkp.1_Silent_p.A725A|PCDHGA11_uc003lkq.1_Silent_p.A910A|PCDHGA12_uc003lkt.1_Silent_p.A907A|PCDHGC3_uc003lkv.1_Silent_p.A909A|PCDHGC3_uc003lkw.1_Silent_p.A109A|PCDHGC4_uc003lky.1_Silent_p.A913A	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	919	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.1875	31.114362	38.529631	15	65	KEEP	---	---	---	---	capture		Silent	SNP	140890662	140890662	11991	5	A	G	G	G	80	7	PCDHGC5	4	4
TRIO	7204	broad.mit.edu	37	5	14474198	14474198	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14474198G>C	uc003jff.2	+	c.6075G>C	c.(6073-6075)TGG>TGC	p.W2025C	TRIO_uc003jfg.2_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.W1674C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2025	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.102941	3.579203	14.29572	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14474198	14474198	17102	5	G	C	C	C	546	42	TRIO	3	3
SLC36A1	206358	broad.mit.edu	37	5	150846759	150846759	+	Splice_Site_SNP	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150846759G>C	uc003luc.2	+	c.420_splice	c.e6-1	p.R140_splice	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Splice_Site_SNP_p.R140_splice|SLC36A1_uc010jhw.1_Splice_Site_SNP_p.R140_splice	NM_078483	NP_510968			solute carrier family 36 member 1						cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	Melanoma(151;1534 1860 12947 32979 37872)								0.279279	91.377473	96.240431	31	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	150846759	150846759	15090	5	G	C	C	C	429	33	SLC36A1	5	3
FAT2	2196	broad.mit.edu	37	5	150887062	150887062	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150887062G>A	uc003lue.3	-	c.12170C>T	c.(12169-12171)GCG>GTG	p.A4057V	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.A664V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4057	Helical; (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)											0.116667	5.493849	14.168379	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150887062	150887062	5926	5	G	A	A	A	494	38	FAT2	1	1
EBF1	1879	broad.mit.edu	37	5	158139237	158139237	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:158139237C>A	uc011ddx.1	-	c.1477G>T	c.(1477-1479)GGC>TGC	p.G493C	EBF1_uc011ddw.1_Missense_Mutation_p.G360C|EBF1_uc010jip.2_Missense_Mutation_p.G492C|EBF1_uc003lxl.3_Missense_Mutation_p.G461C	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	492	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.333333	17.645071	18.087347	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158139237	158139237	5066	5	C	A	A	A	299	23	EBF1	1	1
FBXL7	23194	broad.mit.edu	37	5	15928579	15928579	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928579C>A	uc003jfn.1	+	c.708C>A	c.(706-708)CTC>CTA	p.L236L		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	236	LRR 3.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.196429	48.514475	58.110906	22	90	KEEP	---	---	---	---	capture		Silent	SNP	15928579	15928579	5961	5	C	A	A	A	405	32	FBXL7	2	2
GABRP	2568	broad.mit.edu	37	5	170224482	170224482	+	Silent	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170224482T>A	uc003mau.2	+	c.471T>A	c.(469-471)ACT>ACA	p.T157T	GABRP_uc011dev.1_Silent_p.T157T	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	157	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.25	39.994915	43.404466	15	45	KEEP	---	---	---	---	capture		Silent	SNP	170224482	170224482	6425	5	T	A	A	A	704	55	GABRP	3	3
CDHR2	54825	broad.mit.edu	37	5	176002154	176002154	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176002154G>C	uc003mem.1	+	c.565G>C	c.(565-567)GGC>CGC	p.G189R	CDHR2_uc003men.1_Missense_Mutation_p.G189R	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	189	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.298851	69.306796	72.460108	26	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176002154	176002154	3248	5	G	C	C	C	611	47	CDHR2	3	3
CDH10	1008	broad.mit.edu	37	5	24487843	24487843	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24487843G>T	uc003jgr.1	-	c.2296C>A	c.(2296-2298)CGA>AGA	p.R766R	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	766	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.610879	486.556615	489.12478	146	93	KEEP	---	---	---	---	capture		Silent	SNP	24487843	24487843	3225	5	G	T	T	T	506	39	CDH10	1	1
CDH10	1008	broad.mit.edu	37	5	24509706	24509706	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24509706T>C	uc003jgr.1	-	c.1225A>G	c.(1225-1227)AGG>GGG	p.R409G	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	409	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.194175	45.932451	54.933143	20	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24509706	24509706	3225	5	T	C	C	C	726	56	CDH10	4	4
C5orf42	65250	broad.mit.edu	37	5	37187517	37187517	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37187517T>A	uc011cpa.1	-	c.4079A>T	c.(4078-4080)AAG>ATG	p.K1360M	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.K435M|C5orf42_uc011cpb.1_Missense_Mutation_p.K241M	NM_023073	NP_075561	B7ZLV7	B7ZLV7_HUMAN	hypothetical protein LOC65250	273										ovary(4)|breast(2)	6	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)											0.133858	25.887029	42.405614	17	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37187517	37187517	2399	5	T	A	A	A	728	56	C5orf42	3	3
FYB	2533	broad.mit.edu	37	5	39202797	39202797	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39202797C>A	uc011cpl.1	-	c.296G>T	c.(295-297)GGC>GTC	p.G99V	FYB_uc003jls.2_Missense_Mutation_p.G89V|FYB_uc003jlt.2_Missense_Mutation_p.G89V|FYB_uc003jlu.2_Missense_Mutation_p.G89V	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	89					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)											0.581395	78.581074	78.829974	25	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39202797	39202797	6375	5	C	A	A	A	338	26	FYB	2	2
NNT	23530	broad.mit.edu	37	5	43656852	43656852	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43656852G>T	uc003joe.2	+	c.2391G>T	c.(2389-2391)GTG>GTT	p.V797V	NNT_uc003jof.2_Silent_p.V797V	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	797	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)									0.154321	43.462124	61.892593	25	137	KEEP	---	---	---	---	capture		Silent	SNP	43656852	43656852	10913	5	G	T	T	T	600	47	NNT	2	2
ITGA1	3672	broad.mit.edu	37	5	52214578	52214578	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52214578G>T	uc003jou.2	+	c.2005G>T	c.(2005-2007)GTA>TTA	p.V669L	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Missense_Mutation_p.V200L	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	669	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.53125	59.879273	59.90671	17	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52214578	52214578	8176	5	G	T	T	T	520	40	ITGA1	1	1
IQGAP2	10788	broad.mit.edu	37	5	75902092	75902092	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75902092G>T	uc003kek.2	+	c.1321G>T	c.(1321-1323)GAT>TAT	p.D441Y	IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	441					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)										0.285714	26.332479	27.776753	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75902092	75902092	8118	5	G	T	T	T	585	45	IQGAP2	2	2
F2RL2	2151	broad.mit.edu	37	5	75913420	75913420	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75913420T>A	uc003kem.2	-	c.1112A>T	c.(1111-1113)TAC>TTC	p.Y371F	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y349F	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	371	Cytoplasmic (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)										0.194444	16.018042	19.142658	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75913420	75913420	5539	5	T	A	A	A	741	57	F2RL2	3	3
TAS2R1	50834	broad.mit.edu	37	5	9629469	9629469	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9629469C>A	uc003jem.1	-	c.676G>T	c.(676-678)GCG>TCG	p.A226S		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	226	Helical; Name=6; (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.486486	117.219521	117.230102	36	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9629469	9629469	16087	5	C	A	A	A	351	27	TAS2R1	1	1
LIX1	167410	broad.mit.edu	37	5	96460280	96460280	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96460280C>T	uc003kmy.3	-	c.136G>A	c.(136-138)GCT>ACT	p.A46T		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	limb expression 1	46										ovary(1)	1		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)										0.37037	29.905765	30.279688	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96460280	96460280	9160	5	C	T	T	T	338	26	LIX1	2	2
WASF1	8936	broad.mit.edu	37	6	110428292	110428292	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110428292C>A	uc003ptv.1	-	c.528G>T	c.(526-528)AAG>AAT	p.K176N	WASF1_uc003ptw.1_Missense_Mutation_p.K176N|WASF1_uc003ptx.1_Missense_Mutation_p.K176N|WASF1_uc003pty.1_Missense_Mutation_p.K176N|WASF1_uc003ptz.1_Missense_Mutation_p.K176N	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	176					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)										0.226415	28.471529	32.114421	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110428292	110428292	17824	6	C	A	A	A	415	32	WASF1	2	2
CDC40	51362	broad.mit.edu	37	6	110551182	110551182	+	Nonsense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110551182G>T	uc003pua.2	+	c.1588G>T	c.(1588-1590)GGA>TGA	p.G530*		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	530	WD 6.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)										0.218182	30.472659	34.496669	12	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110551182	110551182	3198	6	G	T	T	T	611	47	CDC40	5	2
LAMA4	3910	broad.mit.edu	37	6	112537579	112537579	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112537579C>G	uc003pvu.2	-	c.287G>C	c.(286-288)GGA>GCA	p.G96A	LAMA4_uc003pvv.2_Missense_Mutation_p.G96A|LAMA4_uc003pvt.2_Missense_Mutation_p.G96A|LAMA4_uc003pvw.2_Missense_Mutation_p.G96A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	96	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.319149	44.666562	46.057259	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112537579	112537579	8931	6	C	G	G	G	390	30	LAMA4	3	3
C6orf170	221322	broad.mit.edu	37	6	121642831	121642831	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121642831C>A	uc003pyo.1	-	c.265G>T	c.(265-267)GGC>TGC	p.G89C	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	89					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.217949	84.266019	95.708827	34	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121642831	121642831	2449	6	C	A	A	A	299	23	C6orf170	1	1
LAMA2	3908	broad.mit.edu	37	6	129465106	129465106	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129465106G>A	uc003qbn.2	+	c.700G>A	c.(700-702)GAA>AAA	p.E234K	LAMA2_uc003qbo.2_Missense_Mutation_p.E234K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	234	Laminin N-terminal.				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)										0.246154	42.06328	45.887866	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129465106	129465106	8929	6	G	A	A	A	429	33	LAMA2	2	2
LAMA2	3908	broad.mit.edu	37	6	129785559	129785559	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129785559T>A	uc003qbn.2	+	c.7117T>A	c.(7117-7119)TCG>ACG	p.S2373T	LAMA2_uc003qbo.2_Missense_Mutation_p.S2373T	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2373	Laminin G-like 2.				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)										0.232704	85.09708	95.499564	37	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129785559	129785559	8929	6	T	A	A	A	806	62	LAMA2	3	3
TAAR2	9287	broad.mit.edu	37	6	132938666	132938667	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132938666_132938667CC>AT	uc003qdl.1	-	c.678_679GG>AT	c.(676-681)GTGGGG>GTATGG	p.G227W	TAAR2_uc010kfr.1_Missense_Mutation_p.G182W	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	227	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)										0.232143	31.727884	35.35146	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	132938666	132938667	16011	6	CC	AT	AT	AT	286	22	TAAR2	2	2
RANBP9	10048	broad.mit.edu	37	6	13644892	13644892	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:13644892G>C	uc003nbb.2	-	c.997C>G	c.(997-999)CCT>GCT	p.P333A	RANBP9_uc003nba.2_De_novo_Start_OutOfFrame	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	333	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)							169				0.211538	56.861549	64.813838	22	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13644892	13644892	13492	6	G	C	C	C	533	41	RANBP9	3	3
IL20RA	53832	broad.mit.edu	37	6	137325893	137325893	+	Silent	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:137325893T>C	uc003qhj.2	-	c.729A>G	c.(727-729)CAA>CAG	p.Q243Q	IL20RA_uc011edl.1_Silent_p.Q194Q|IL20RA_uc003qhk.2_Silent_p.Q132Q|IL20RA_uc003qhi.2_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	243	Extracellular (Potential).					integral to membrane	receptor activity			ovary(2)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)										0.227273	44.474181	50.474141	20	68	KEEP	---	---	---	---	capture		Silent	SNP	137325893	137325893	7969	6	T	C	C	C	673	52	IL20RA	4	4
TAB2	23118	broad.mit.edu	37	6	149700010	149700010	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:149700010G>T	uc003qmj.2	+	c.959G>T	c.(958-960)GGA>GTA	p.G320V	TAB2_uc011eec.1_Missense_Mutation_p.G288V|TAB2_uc010kia.1_Missense_Mutation_p.G320V|TAB2_uc010kib.1_Missense_Mutation_p.G320V|TAB2_uc003qmk.3_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	320					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0										127				0.287879	44.995883	47.662171	19	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149700010	149700010	16017	6	G	T	T	T	533	41	TAB2	2	2
MAP3K4	4216	broad.mit.edu	37	6	161470454	161470454	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161470454A>G	uc003qtn.2	+	c.1150A>G	c.(1150-1152)AAA>GAA	p.K384E	MAP3K4_uc010kkc.1_Missense_Mutation_p.K384E|MAP3K4_uc003qto.2_Missense_Mutation_p.K384E|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	384					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				0.22449	29.440678	32.930383	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161470454	161470454	9635	6	A	G	G	G	13	1	MAP3K4	4	4
C6orf118	168090	broad.mit.edu	37	6	165715241	165715241	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165715241G>A	uc003qum.3	-	c.570C>T	c.(568-570)GCC>GCT	p.A190A	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	190											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)										0.181818	16.571379	21.886809	10	45	KEEP	---	---	---	---	capture		Silent	SNP	165715241	165715241	2425	6	G	A	A	A	496	39	C6orf118	1	1
T	6862	broad.mit.edu	37	6	166574331	166574331	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:166574331C>A	uc003qut.1	-	c.1031G>T	c.(1030-1032)AGC>ATC	p.S344I	T_uc003quu.1_Missense_Mutation_p.S343I|T_uc003quv.1_Missense_Mutation_p.S285I	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	343					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)										0.376812	74.331005	75.2507	26	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166574331	166574331	16009	6	C	A	A	A	364	28	T	2	2
HIST1H2AC	8334	broad.mit.edu	37	6	26124812	26124812	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26124812C>G	uc003ngm.2	+	c.352C>G	c.(352-354)CCT>GCT	p.P118A	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_Non-coding_Transcript|HIST1H2AC_uc003ngo.2_Non-coding_Transcript|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.P118A	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	118					nucleosome assembly	nucleosome|nucleus	DNA binding				0														0.328947	75.358501	77.325115	25	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26124812	26124812	7415	6	C	G	G	G	338	26	HIST1H2AC	3	3
HIST1H3H	8357	broad.mit.edu	37	6	27778257	27778257	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27778257G>T	uc003njm.2	+	c.406G>T	c.(406-408)GCT>TCT	p.A136S	HIST1H2BL_uc003njl.2_5'Flank	NM_003536	NP_003527	P68431	H31_HUMAN	histone cluster 1, H3h	136					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1														0.342857	34.605452	35.36139	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27778257	27778257	7447	6	G	T	T	T	546	42	HIST1H3H	2	2
SKIV2L	6499	broad.mit.edu	37	6	31927176	31927176	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31927176G>A	uc003nyn.1	+	c.125G>A	c.(124-126)AGC>AAC	p.S42N	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|MIR1236_hsa-mir-1236|MI0006326_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	42						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4														0.286624	116.632783	123.032639	45	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31927176	31927176	14854	6	G	A	A	A	442	34	SKIV2L	2	2
RNF5	6048	broad.mit.edu	37	6	32146358	32146358	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32146358A>G	uc003oaj.3	+	c.70A>G	c.(70-72)ACC>GCC	p.T24A	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	24					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.27451	29.517146	31.873452	14	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32146358	32146358	13976	6	A	G	G	G	130	10	RNF5	4	4
TUBB2B	347733	broad.mit.edu	37	6	3225005	3225005	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3225005C>T	uc003mvg.2	-	c.1318G>A	c.(1318-1320)GAG>AAG	p.E440K	TUBB2B_uc010jnj.2_Missense_Mutation_p.E403K|TUBB2B_uc010jnk.2_Missense_Mutation_p.E368K|TUBB2B_uc003mvh.2_Missense_Mutation_p.E413K	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	440					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)												0.321429	51.832487	53.41735	18	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3225005	3225005	17310	6	C	T	T	T	390	30	TUBB2B	2	2
BRD2	6046	broad.mit.edu	37	6	32943245	32943245	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32943245G>A	uc010juh.2	+	c.418G>A	c.(418-420)GAG>AAG	p.E140K	BRD2_uc003ocn.3_Missense_Mutation_p.E140K|BRD2_uc003oco.2_Non-coding_Transcript|BRD2_uc003ocq.3_Missense_Mutation_p.E140K|BRD2_uc003ocp.3_Missense_Mutation_p.E20K	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	140	Bromo 1.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5										227				0.192982	24.792967	29.808008	11	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32943245	32943245	1533	6	G	A	A	A	429	33	BRD2	2	2
TCP11	6954	broad.mit.edu	37	6	35088692	35088692	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35088692G>T	uc003okd.2	-	c.748C>A	c.(748-750)CAG>AAG	p.Q250K	TCP11_uc003ojz.1_Missense_Mutation_p.Q175K|TCP11_uc003oka.2_Missense_Mutation_p.Q175K|TCP11_uc003okb.2_Missense_Mutation_p.Q174K|TCP11_uc003okc.2_Missense_Mutation_p.Q174K|TCP11_uc011dsu.1_Missense_Mutation_p.Q232K|TCP11_uc011dsv.1_Missense_Mutation_p.Q199K|TCP11_uc011dsw.1_Missense_Mutation_p.Q204K	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	237					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)	3														0.283887	304.296221	320.674235	111	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35088692	35088692	16239	6	G	T	T	T	598	46	TCP11	2	2
STK38	11329	broad.mit.edu	37	6	36485593	36485593	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36485593C>A	uc003omg.2	-	c.415G>T	c.(415-417)GAC>TAC	p.D139Y	STK38_uc003omh.2_Missense_Mutation_p.D139Y|STK38_uc003omi.2_Missense_Mutation_p.D139Y	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	139	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity|protein phosphorylation	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|skin(1)	4						Colon(180;997 3561 16158)				263				0.223684	39.749447	45.074281	17	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36485593	36485593	15823	6	C	A	A	A	377	29	STK38	2	2
C6orf154	221424	broad.mit.edu	37	6	43476063	43476063	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43476063C>A	uc003ovk.1	-	c.529G>T	c.(529-531)GTC>TTC	p.V177F	C6orf154_uc003ovj.1_Intron	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	177	LRR 5.										0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)											0.418605	55.941499	56.190236	18	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43476063	43476063	2443	6	C	A	A	A	247	19	C6orf154	1	1
RHAG	6005	broad.mit.edu	37	6	49578778	49578778	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49578778G>T	uc003ozk.3	-	c.1026C>A	c.(1024-1026)GGC>GGA	p.G342G	RHAG_uc010jzl.2_Silent_p.G342G|RHAG_uc010jzm.2_Intron	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	342	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.212121	23.522312	28.606501	14	52	KEEP	---	---	---	---	capture		Silent	SNP	49578778	49578778	13790	6	G	T	T	T	535	42	RHAG	2	2
PGK2	5232	broad.mit.edu	37	6	49754274	49754274	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49754274C>A	uc003ozu.2	-	c.627G>T	c.(625-627)CTG>CTT	p.L209L		NM_138733	NP_620061	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	209					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1	Lung NSC(77;0.0402)													0.294118	96.690696	101.197593	35	84	KEEP	---	---	---	---	capture		Silent	SNP	49754274	49754274	12214	6	C	A	A	A	262	21	PGK2	2	2
LRRC1	55227	broad.mit.edu	37	6	53706983	53706983	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53706983G>T	uc003pcd.1	+	c.235G>T	c.(235-237)GCA>TCA	p.A79S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	79	LRR 3.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)										0.241935	37.821784	41.568912	15	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53706983	53706983	9339	6	G	T	T	T	442	34	LRRC1	2	2
COL21A1	81578	broad.mit.edu	37	6	56021688	56021688	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56021688C>T	uc003pcs.2	-	c.1431G>A	c.(1429-1431)AAG>AAA	p.K477K	COL21A1_uc003pct.1_Intron|COL21A1_uc011dxi.1_Silent_p.K477K|COL21A1_uc003pcu.1_Silent_p.K474K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	477	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.333333	12.096187	12.391301	4	8	KEEP	---	---	---	---	capture		Silent	SNP	56021688	56021688	3818	6	C	T	T	T	363	28	COL21A1	2	2
COL19A1	1310	broad.mit.edu	37	6	70878090	70878091	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70878090_70878091GG>TT	uc003pfc.1	+	c.2524_2525GG>TT	c.(2524-2526)GGG>TTG	p.G842L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	842	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														0.266667	20.285493	21.76171	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70878090	70878091	3814	6	GG	TT	TT	TT	455	35	COL19A1	2	2
TTK	7272	broad.mit.edu	37	6	80749948	80749948	+	Silent	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80749948C>G	uc003pjc.2	+	c.2343C>G	c.(2341-2343)TCC>TCG	p.S781S	TTK_uc003pjb.3_Silent_p.S780S	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	781	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.275862	40.697347	43.308361	16	42	KEEP	---	---	---	---	capture		Silent	SNP	80749948	80749948	17275	6	C	G	G	G	262	21	TTK	3	3
RIPPLY2	134701	broad.mit.edu	37	6	84567041	84567041	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84567041C>A	uc003pke.2	+	c.320C>A	c.(319-321)GCC>GAC	p.A107D	CYB5R4_uc003pkf.2_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	107	Ripply homology domain.				somite rostral/caudal axis specification	nucleus					0														0.329545	76.471123	78.725944	29	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84567041	84567041	13862	6	C	A	A	A	338	26	RIPPLY2	2	2
SPACA1	81833	broad.mit.edu	37	6	88773885	88773885	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88773885G>T	uc003pmn.2	+	c.679G>T	c.(679-681)GTC>TTC	p.V227F		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	227	Helical; (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)										0.338983	118.171146	120.872495	40	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88773885	88773885	15473	6	G	T	T	T	468	36	SPACA1	2	2
LAMB1	3912	broad.mit.edu	37	7	107592472	107592472	+	Silent	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107592472G>A	uc003vev.2	-	c.3348C>T	c.(3346-3348)TTC>TTT	p.F1116F	LAMB1_uc003vew.2_Silent_p.F1092F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1092	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.142857	6.087952	9.52493	4	24	KEEP	---	---	---	---	capture		Silent	SNP	107592472	107592472	8933	7	G	A	A	A	477	37	LAMB1	1	1
THSD7A	221981	broad.mit.edu	37	7	11675994	11675994	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11675994G>T	uc003ssf.3	-	c.785C>A	c.(784-786)ACC>AAC	p.T262N		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	262	Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.205479	34.939341	40.772701	15	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11675994	11675994	16407	7	G	T	T	T	572	44	THSD7A	2	2
C7orf58	79974	broad.mit.edu	37	7	120629670	120629670	+	De_novo_Start_InFrame	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120629670C>A	uc003vjq.3	+	c.-5C>A	c.(-7--3)AACTG>AAATG		C7orf58_uc003vjr.1_De_novo_Start_InFrame|C7orf58_uc003vjs.3_De_novo_Start_InFrame	NM_024913	NP_079189			hypothetical protein LOC79974 isoform 1							endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.28125	52.1248	54.875775	18	46	KEEP	---	---	---	---	capture		De_novo_Start_InFrame	SNP	120629670	120629670	2512	7	C	A	A	A	248	20	C7orf58	5	2
PTPRZ1	5803	broad.mit.edu	37	7	121651939	121651939	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121651939G>T	uc003vjy.2	+	c.2839G>T	c.(2839-2841)GCA>TCA	p.A947S	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	947	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.261682	70.954395	76.464818	28	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121651939	121651939	13272	7	G	T	T	T	598	46	PTPRZ1	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121652034	121652034	+	Silent	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121652034C>G	uc003vjy.2	+	c.2934C>G	c.(2932-2934)ACC>ACG	p.T978T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	978	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.330827	121.71473	125.058352	44	89	KEEP	---	---	---	---	capture		Silent	SNP	121652034	121652034	13272	7	C	G	G	G	275	22	PTPRZ1	3	3
COPG2	26958	broad.mit.edu	37	7	130295897	130295897	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130295897C>G	uc003vqh.1	-	c.664G>C	c.(664-666)GGT>CGT	p.G222R		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	222					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)													0.233333	34.325721	38.227352	14	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130295897	130295897	3870	7	C	G	G	G	273	21	COPG2	3	3
NUP205	23165	broad.mit.edu	37	7	135261743	135261743	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135261743G>T	uc003vsw.2	+	c.515G>T	c.(514-516)CGC>CTC	p.R172L	NUP205_uc011kqa.1_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	172					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.509091	92.10902	92.113295	28	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135261743	135261743	11164	7	G	T	T	T	494	38	NUP205	1	1
NUP205	23165	broad.mit.edu	37	7	135333220	135333220	+	Silent	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135333220A>G	uc003vsw.2	+	c.5955A>G	c.(5953-5955)TTA>TTG	p.L1985L	NUP205_uc003vsx.2_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1985					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.298246	50.165409	52.231999	17	40	KEEP	---	---	---	---	capture		Silent	SNP	135333220	135333220	11164	7	A	G	G	G	206	16	NUP205	4	4
UBN2	254048	broad.mit.edu	37	7	138946381	138946381	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138946381C>A	uc011kqr.1	+	c.1289C>A	c.(1288-1290)ACC>AAC	p.T430N	UBN2_uc003vuv.2_Missense_Mutation_p.T153N	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	430										ovary(1)	1														0.263158	34.883592	37.789996	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138946381	138946381	17451	7	C	A	A	A	234	18	UBN2	2	2
TRYX3	136541	broad.mit.edu	37	7	141955399	141955399	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141955399C>T	uc003vxb.2	-	c.135G>A	c.(133-135)CTG>CTA	p.L45L	TRYX3_uc003vxc.3_Silent_p.L45L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	45	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.229167	25.301389	28.529465	11	37	KEEP	---	---	---	---	capture		Silent	SNP	141955399	141955399	17155	7	C	T	T	T	366	29	TRYX3	2	2
PRSS1	5644	broad.mit.edu	37	7	142458452	142458452	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142458452C>A	uc003wak.2	+	c.87C>A	c.(85-87)AAC>AAA	p.N29K	TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	29	Peptidase S1.		N -> I (in HPC).|N -> T (in HPC).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.051852	-15.467451	13.312726	7	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142458452	142458452	13064	7	C	A	A	A	259	20	PRSS1	2	2
CLCN1	1180	broad.mit.edu	37	7	143036384	143036384	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143036384C>T	uc003wcr.1	+	c.1440C>T	c.(1438-1440)CCC>CCT	p.P480P	CLCN1_uc011ktc.1_Silent_p.P92P	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	480			P -> L (in THD).		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)													0.320574	196.038716	202.026078	67	142	KEEP	---	---	---	---	capture		Silent	SNP	143036384	143036384	3598	7	C	T	T	T	301	24	CLCN1	2	2
SSPO	23145	broad.mit.edu	37	7	149522153	149522153	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149522153G>T	uc010lpk.2	+	c.13940G>T	c.(13939-13941)GGA>GTA	p.G4647V	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	4647	TSP type-1 23.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.5	14.435121	14.435121	6	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149522153	149522153	15705	7	G	T	T	T	533	41	SSPO	2	2
ACTR3B	57180	broad.mit.edu	37	7	152549293	152549293	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:152549293C>T	uc003wle.1	+	c.1034C>T	c.(1033-1035)GCT>GTT	p.A345V	ACTR3B_uc003wlf.1_Intron|ACTR3B_uc003wlg.1_Missense_Mutation_p.A257V|ACTR3B_uc011kvp.1_Missense_Mutation_p.A257V	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	actin-related protein 3-beta isoform 1	345					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding				0		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)										0.176471	16.034516	21.084836	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152549293	152549293	214	7	C	T	T	T	364	28	ACTR3B	2	2
HDAC9	9734	broad.mit.edu	37	7	18687575	18687575	+	Silent	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18687575T>C	uc003sui.2	+	c.1203T>C	c.(1201-1203)CAT>CAC	p.H401H	HDAC9_uc003sue.2_Silent_p.H398H|HDAC9_uc011jyd.1_Silent_p.H398H|HDAC9_uc003suh.2_Silent_p.H398H|HDAC9_uc003suj.2_Silent_p.H357H|HDAC9_uc011jya.1_Silent_p.H395H|HDAC9_uc003sua.1_Silent_p.H376H|HDAC9_uc011jyb.1_Silent_p.H354H|HDAC9_uc003sud.1_Silent_p.H398H|HDAC9_uc011jyc.1_Silent_p.H357H|HDAC9_uc003suf.1_Silent_p.H429H|HDAC9_uc010kud.1_Silent_p.H401H|HDAC9_uc011jye.1_Silent_p.H370H|HDAC9_uc011jyf.1_Silent_p.H321H|HDAC9_uc010kue.1_Silent_p.H141H	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	398					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)									0.263158	15.466626	16.430219	5	14	KEEP	---	---	---	---	capture		Silent	SNP	18687575	18687575	7297	7	T	C	C	C	673	52	HDAC9	4	4
ABCB5	340273	broad.mit.edu	37	7	20793041	20793041	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20793041G>T	uc010kuh.2	+	c.3488G>T	c.(3487-3489)AGA>ATA	p.R1163I	ABCB5_uc003suw.3_Missense_Mutation_p.R718I	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	718	Cytoplasmic (Potential).|ABC transporter 2.				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														0.371429	69.62311	70.642837	26	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20793041	20793041	45	7	G	T	T	T	429	33	ABCB5	2	2
DNAH11	8701	broad.mit.edu	37	7	21827064	21827064	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21827064A>G	uc003svc.2	+	c.9808A>G	c.(9808-9810)ATT>GTT	p.I3270V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3270	Stalk (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														0.245614	33.319327	36.681606	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21827064	21827064	4781	7	A	G	G	G	104	8	DNAH11	4	4
GPNMB	10457	broad.mit.edu	37	7	23306169	23306169	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23306169G>A	uc003swc.2	+	c.1088G>A	c.(1087-1089)AGG>AAG	p.R363K	GPNMB_uc003swb.2_Missense_Mutation_p.R351K|GPNMB_uc011jyy.1_Missense_Mutation_p.R305K|GPNMB_uc011jyz.1_Missense_Mutation_p.R252K	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	363	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)											0.19403	32.437518	38.288101	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23306169	23306169	6894	7	G	A	A	A	455	35	GPNMB	2	2
IGF2BP3	10643	broad.mit.edu	37	7	23358857	23358857	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23358857G>C	uc003swg.2	-	c.1220C>G	c.(1219-1221)ACT>AGT	p.T407S	IGF2BP3_uc003swf.2_Missense_Mutation_p.T26S	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	407	KH 3.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.315789	93.35984	96.203697	30	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23358857	23358857	7876	7	G	C	C	C	468	36	IGF2BP3	3	3
TRIL	9865	broad.mit.edu	37	7	28996417	28996417	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:28996417C>A	uc003szt.2	-	c.1246G>T	c.(1246-1248)GAT>TAT	p.D416Y		NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	416	Extracellular (Potential).|LRRCT.				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0														0.271186	36.56372	39.358518	16	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28996417	28996417	17029	7	C	A	A	A	390	30	TRIL	2	2
TBX20	57057	broad.mit.edu	37	7	35242325	35242325	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:35242325G>T	uc011kas.1	-	c.1061C>A	c.(1060-1062)TCC>TAC	p.S354Y		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	354						nucleus	DNA binding			central_nervous_system(1)	1														0.428571	8.523505	8.554726	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35242325	35242325	16182	7	G	T	T	T	533	41	TBX20	2	2
EEPD1	80820	broad.mit.edu	37	7	36338682	36338682	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36338682G>T	uc003tfa.2	+	c.1577G>T	c.(1576-1578)GGG>GTG	p.G526V		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	526					DNA repair|protein secretion	integral to membrane	DNA binding				0														0.28125	44.317461	47.074094	18	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36338682	36338682	5119	7	G	T	T	T	559	43	EEPD1	2	2
INHBA	3624	broad.mit.edu	37	7	41730000	41730000	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:41730000G>C	uc003thq.2	-	c.529C>G	c.(529-531)CAG>GAG	p.Q177E	INHBA_uc003thr.2_Missense_Mutation_p.Q177E	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	177					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)			0.256757	54.129983	58.073474	19	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41730000	41730000	8042	7	G	C	C	C	611	47	INHBA	3	3
VSTM2A	222008	broad.mit.edu	37	7	54617553	54617553	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:54617553C>A	uc003tqc.3	+	c.324C>A	c.(322-324)ATC>ATA	p.I108I	VSTM2A_uc010kze.2_Silent_p.I108I|VSTM2A_uc010kzf.2_Silent_p.I108I	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	108	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)											0.176471	5.817547	7.492375	3	14	KEEP	---	---	---	---	capture		Silent	SNP	54617553	54617553	17797	7	C	A	A	A	408	32	VSTM2A	2	2
WBSCR17	64409	broad.mit.edu	37	7	70880936	70880937	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:70880936_70880937GG>TT	uc003tvy.2	+	c.651_652GG>TT	c.(649-654)GTGGTA>GTTTTA	p.V218L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	218	Catalytic subdomain A.|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)												0.305556	31.517736	32.728235	11	25	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	70880936	70880937	17836	7	GG	TT	TT	TT	600	47	WBSCR17	2	2
PCLO	27445	broad.mit.edu	37	7	82579217	82579217	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579217C>T	uc003uhx.2	-	c.10687G>A	c.(10687-10689)GGC>AGC	p.G3563S	PCLO_uc003uhv.2_Missense_Mutation_p.G3563S|PCLO_uc010lec.2_Missense_Mutation_p.G528S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3494					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														0.229508	34.844846	38.918993	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579217	82579217	12003	7	C	T	T	T	286	22	PCLO	2	2
ABCB4	5244	broad.mit.edu	37	7	87041230	87041230	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87041230A>G	uc003uiv.1	-	c.2903T>C	c.(2902-2904)ATG>ACG	p.M968T	ABCB4_uc003uiw.1_Missense_Mutation_p.M968T|ABCB4_uc003uix.1_Intron	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	968	Extracellular (By similarity).|ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.222222	21.92203	25.12148	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87041230	87041230	44	7	A	G	G	G	104	8	ABCB4	4	4
SAMD9L	219285	broad.mit.edu	37	7	92764413	92764413	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92764413T>C	uc003umh.1	-	c.872A>G	c.(871-873)GAA>GGA	p.E291G	SAMD9L_uc003umj.1_Missense_Mutation_p.E291G|SAMD9L_uc003umi.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E291G|SAMD9L_uc003umk.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E291G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E291G|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	291										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)											0.34507	149.640164	152.646001	49	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92764413	92764413	14307	7	T	C	C	C	806	62	SAMD9L	4	4
DYNC1I1	1780	broad.mit.edu	37	7	95662065	95662065	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95662065G>T	uc003uoc.3	+	c.1254G>T	c.(1252-1254)TGG>TGT	p.W418C	DYNC1I1_uc003uod.3_Missense_Mutation_p.W401C|DYNC1I1_uc003uob.2_Missense_Mutation_p.W381C|DYNC1I1_uc003uoe.3_Missense_Mutation_p.W398C|DYNC1I1_uc010lfl.2_Missense_Mutation_p.W407C	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	418	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)											0.304348	70.366866	73.513597	28	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95662065	95662065	5028	7	G	T	T	T	533	41	DYNC1I1	2	2
RGS22	26166	broad.mit.edu	37	8	101051226	101051226	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101051226A>C	uc003yjb.1	-	c.2099T>G	c.(2098-2100)CTG>CGG	p.L700R	RGS22_uc003yja.1_Missense_Mutation_p.L519R|RGS22_uc003yjc.1_Missense_Mutation_p.L688R|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	700					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.222222	22.114946	25.322157	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101051226	101051226	13779	8	A	C	C	C	91	7	RGS22	4	4
ZFPM2	23414	broad.mit.edu	37	8	106814054	106814054	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106814054C>G	uc003ymd.2	+	c.1744C>G	c.(1744-1746)CCA>GCA	p.P582A	ZFPM2_uc011lhs.1_Missense_Mutation_p.P313A	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	582					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.25	83.824652	91.317166	33	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106814054	106814054	18248	8	C	G	G	G	286	22	ZFPM2	3	3
CSMD3	114788	broad.mit.edu	37	8	113323375	113323375	+	Nonsense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113323375C>A	uc003ynu.2	-	c.7717G>T	c.(7717-7719)GAA>TAA	p.E2573*	CSMD3_uc003yns.2_Nonsense_Mutation_p.E1775*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E2533*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E2469*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.E284*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2573	Extracellular (Potential).|Sushi 14.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.101695	1.890168	11.389513	6	53	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113323375	113323375	4087	8	C	A	A	A	416	32	CSMD3	5	2
ANXA13	312	broad.mit.edu	37	8	124696964	124696965	+	Splice_Site_DNP	DNP	TG	CT	CT			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124696964_124696965TG>CT	uc003yqt.2	-	c.842_splice	c.e11-1	p.V281_splice	ANXA13_uc003yqu.2_Splice_Site_DNP_p.V240_splice	NM_001003954	NP_001003954			annexin A13 isoform b						cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)	2	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)											0.302326	39.785689	41.270578	13	30	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	124696964	124696965	725	8	TG	CT	CT	CT	715	55	ANXA13	5	4
COL22A1	169044	broad.mit.edu	37	8	139890183	139890183	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139890183G>T	uc003yvd.2	-	c.468C>A	c.(466-468)GAC>GAA	p.D156E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	156	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.25	10.192645	11.10142	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139890183	139890183	3819	8	G	T	T	T	568	44	COL22A1	2	2
MYOM2	9172	broad.mit.edu	37	8	2027642	2027642	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2027642C>T	uc003wpx.3	+	c.1464C>T	c.(1462-1464)GCC>GCT	p.A488A	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	488					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)										0.142012	41.996772	62.873187	24	145	KEEP	---	---	---	---	capture		Silent	SNP	2027642	2027642	10487	8	C	T	T	T	288	23	MYOM2	1	1
HTRA4	203100	broad.mit.edu	37	8	38832622	38832622	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38832622C>T	uc003xmj.2	+	c.539C>T	c.(538-540)TCG>TTG	p.S180L		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	180					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)											0.039683	-19.557526	9.169666	5	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38832622	38832622	7756	8	C	T	T	T	403	31	HTRA4	1	1
SNTG1	54212	broad.mit.edu	37	8	51442811	51442811	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51442811A>T	uc010lxy.1	+	c.541A>T	c.(541-543)AAC>TAC	p.N181Y	SNTG1_uc003xqs.1_Missense_Mutation_p.N181Y|SNTG1_uc010lxz.1_Missense_Mutation_p.N181Y|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	181					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)												0.162162	8.823902	12.845868	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51442811	51442811	15374	8	A	T	T	T	65	5	SNTG1	3	3
PCMTD1	115294	broad.mit.edu	37	8	52733190	52733190	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52733190G>T	uc003xqx.3	-	c.795C>A	c.(793-795)GCC>GCA	p.A265A	PCMTD1_uc011ldm.1_Silent_p.A135A|PCMTD1_uc003xqw.3_Silent_p.A265A|PCMTD1_uc011ldn.1_Silent_p.A77A|PCMTD1_uc010lya.2_Silent_p.A189A	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)												0.03937	-19.217967	9.842146	5	122	KEEP	---	---	---	---	capture		Silent	SNP	52733190	52733190	12006	8	G	T	T	T	600	47	PCMTD1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77764145	77764145	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764145C>A	uc003yav.2	+	c.4853C>A	c.(4852-4854)ACC>AAC	p.T1618N	ZFHX4_uc003yau.1_Missense_Mutation_p.T1663N|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1618N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1618					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)											0.203704	26.402641	30.797123	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764145	77764145	18223	8	C	A	A	A	234	18	ZFHX4	2	2
GDF6	392255	broad.mit.edu	37	8	97172755	97172755	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97172755G>A	uc003yhp.2	-	c.166C>T	c.(166-168)CGC>TGC	p.R56C		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	56					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)													0.390244	80.970521	81.837001	32	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97172755	97172755	6585	8	G	A	A	A	494	38	GDF6	1	1
TDRD7	23424	broad.mit.edu	37	9	100222868	100222868	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100222868G>T	uc004axj.2	+	c.1264G>T	c.(1264-1266)GGT>TGT	p.G422C	TDRD7_uc011lux.1_Missense_Mutation_p.G348C	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	422	Lotus/OST-HTH 3.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)												0.337838	72.25114	73.972603	25	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100222868	100222868	16262	9	G	T	T	T	611	47	TDRD7	2	2
GRIN3A	116443	broad.mit.edu	37	9	104449121	104449121	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104449121C>A	uc004bbp.1	-	c.1061G>T	c.(1060-1062)TGG>TTG	p.W354L	GRIN3A_uc004bbq.1_Missense_Mutation_p.W354L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	354	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				0.233333	16.211624	18.165418	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104449121	104449121	7062	9	C	A	A	A	273	21	GRIN3A	2	2
OR13D1	286365	broad.mit.edu	37	9	107457241	107457241	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107457241C>A	uc011lvs.1	+	c.539C>A	c.(538-540)TCC>TAC	p.S180Y		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	180	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.19	35.084821	43.988819	19	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107457241	107457241	11346	9	C	A	A	A	390	30	OR13D1	2	2
MUSK	4593	broad.mit.edu	37	9	113563055	113563055	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113563055C>A	uc004bey.2	+	c.2397C>A	c.(2395-2397)GGC>GGA	p.G799G	MUSK_uc004bez.1_Silent_p.G379G	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	799	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.236842	21.56496	23.963915	9	29	KEEP	---	---	---	---	capture		Silent	SNP	113563055	113563055	10383	9	C	A	A	A	327	26	MUSK	2	2
KIAA0368	23392	broad.mit.edu	37	9	114188022	114188022	+	Splice_Site_SNP	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114188022C>T	uc004bfe.1	-	c.1670_splice	c.e12+1	p.T557_splice	KIAA0368_uc010muc.1_Splice_Site_SNP_p.T379_splice	NM_001080398	NP_001073867			KIAA0368 protein												0														0.0625	-4.153811	8.614277	4	60	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	114188022	114188022	8478	9	C	T	T	T	247	19	KIAA0368	5	1
ASTN2	23245	broad.mit.edu	37	9	119858355	119858355	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119858355G>T	uc004bjs.1	-	c.1244C>A	c.(1243-1245)ACG>AAG	p.T415K	ASTN2_uc004bjr.1_Missense_Mutation_p.T415K|ASTN2_uc004bjt.1_Missense_Mutation_p.T364K	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	415	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.185185	23.229876	28.238813	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119858355	119858355	1084	9	G	T	T	T	520	40	ASTN2	1	1
OR1N1	138883	broad.mit.edu	37	9	125288842	125288842	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125288842C>A	uc004bmn.1	-	c.731G>T	c.(730-732)TGC>TTC	p.C244F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1														0.342105	36.563707	37.400647	13	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125288842	125288842	11375	9	C	A	A	A	325	25	OR1N1	2	2
CRB2	286204	broad.mit.edu	37	9	126137497	126137497	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:126137497T>A	uc004bnx.1	+	c.3508T>A	c.(3508-3510)TGT>AGT	p.C1170S		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1170	Extracellular (Potential).|EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1														0.627451	100.56479	101.283701	32	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126137497	126137497	3988	9	T	A	A	A	767	59	CRB2	3	3
LMX1B	4010	broad.mit.edu	37	9	129376847	129376847	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129376847C>A	uc011maa.1	+	c.50C>A	c.(49-51)GCC>GAC	p.A17D	LMX1B_uc004bqi.2_Missense_Mutation_p.A17D|LMX1B_uc004bqj.2_Missense_Mutation_p.A17D	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	17					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0						Pancreas(110;1796 2278 18357 20466)								0.571429	11.700013	11.731092	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129376847	129376847	9191	9	C	A	A	A	338	26	LMX1B	2	2
CDK9	1025	broad.mit.edu	37	9	130550579	130550579	+	Silent	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130550579C>T	uc004bse.2	+	c.519C>T	c.(517-519)GCC>GCT	p.A173A		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	173	Protein kinase.				cell proliferation|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1									p.A173A(CAPAN2-Tumor)	166				0.208333	12.378494	14.256901	5	19	KEEP	---	---	---	---	capture		Silent	SNP	130550579	130550579	3280	9	C	T	T	T	301	24	CDK9	2	2
LRRC8A	56262	broad.mit.edu	37	9	131670679	131670679	+	Silent	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131670679G>C	uc004bwl.3	+	c.1236G>C	c.(1234-1236)ACG>ACC	p.T412T	LRRC8A_uc010myp.2_Silent_p.T412T|LRRC8A_uc010myq.2_Silent_p.T412T	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	412	LRR 2.				pre-B cell differentiation	integral to membrane					0														0.136364	11.180605	16.7627	6	38	KEEP	---	---	---	---	capture		Silent	SNP	131670679	131670679	9397	9	G	C	C	C	483	38	LRRC8A	3	3
NUP214	8021	broad.mit.edu	37	9	134034830	134034830	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134034830G>T	uc004cag.2	+	c.2497G>T	c.(2497-2499)GAC>TAC	p.D833Y	NUP214_uc004cah.2_Missense_Mutation_p.D823Y|NUP214_uc004cai.2_Missense_Mutation_p.D263Y|NUP214_uc004caf.1_Missense_Mutation_p.D822Y|NUP214_uc010mzf.2_Missense_Mutation_p.D131Y	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	833	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		Pancreas(4;24 48 25510 30394 32571)				1058				0.459459	52.274644	52.327085	17	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134034830	134034830	11167	9	G	T	T	T	429	33	NUP214	2	2
ADAMTSL2	9719	broad.mit.edu	37	9	136405802	136405802	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136405802C>A	uc011mdl.1	+	c.495C>A	c.(493-495)GCC>GCA	p.A165A	ADAMTSL2_uc004cei.2_Silent_p.A165A	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	165					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)										0.348837	40.911428	41.778767	15	28	KEEP	---	---	---	---	capture		Silent	SNP	136405802	136405802	276	9	C	A	A	A	275	22	ADAMTSL2	2	2
VAV2	7410	broad.mit.edu	37	9	136633629	136633629	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136633629C>A	uc004ces.2	-	c.2524G>T	c.(2524-2526)GTG>TTG	p.V842L	VAV2_uc004cer.2_Missense_Mutation_p.V803L	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	842	SH3 2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)	7				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)										0.269231	39.73299	42.227976	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136633629	136633629	17697	9	C	A	A	A	247	19	VAV2	1	1
WDR5	11091	broad.mit.edu	37	9	137017125	137017125	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137017125C>T	uc004cey.2	+	c.605C>T	c.(604-606)TCA>TTA	p.S202L	WDR5_uc004cez.2_Missense_Mutation_p.S202L	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	202	WD 4.				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding				0		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)										0.034483	-24.917772	9.251915	5	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137017125	137017125	17876	9	C	T	T	T	377	29	WDR5	2	2
COL5A1	1289	broad.mit.edu	37	9	137676916	137676916	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137676916G>C	uc004cfe.2	+	c.2566G>C	c.(2566-2568)GGT>CGT	p.G856R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	856	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.166667	7.149505	10.326366	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137676916	137676916	3834	9	G	C	C	C	507	39	COL5A1	3	3
CACNA1B	774	broad.mit.edu	37	9	140850264	140850264	+	Silent	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140850264G>T	uc004cog.2	+	c.1185G>T	c.(1183-1185)GCG>GCT	p.A395A	CACNA1B_uc011mfd.1_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	395	Cytoplasmic (Potential).|Binding to the beta subunit (By similarity).				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)									0.846154	34.930188	36.418007	11	2	KEEP	---	---	---	---	capture		Silent	SNP	140850264	140850264	2655	9	G	T	T	T	496	39	CACNA1B	1	1
SNAPC3	6619	broad.mit.edu	37	9	15433602	15433602	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15433602G>A	uc003zlt.2	+	c.445G>A	c.(445-447)GCC>ACC	p.A149T	SNAPC3_uc011lmt.1_Missense_Mutation_p.A149T|SNAPC3_uc003zlu.2_Non-coding_Transcript	NM_001039697	NP_001034786	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex,	149					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding				0				GBM - Glioblastoma multiforme(50;2.15e-06)						8				0.281553	78.227711	82.647909	29	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15433602	15433602	15336	9	G	A	A	A	442	34	SNAPC3	2	2
KLHL9	55958	broad.mit.edu	37	9	21334168	21334168	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21334168C>A	uc003zoy.2	-	c.691G>T	c.(691-693)GAT>TAT	p.D231Y	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	231	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)	3				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)										0.338462	55.951467	57.440972	22	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21334168	21334168	8710	9	C	A	A	A	390	30	KLHL9	2	2
ACO1	48	broad.mit.edu	37	9	32424649	32424649	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32424649T>A	uc003zqw.3	+	c.1174T>A	c.(1174-1176)TGC>AGC	p.C392S	ACO1_uc010mjh.1_Missense_Mutation_p.C226S|ACO1_uc003zqx.3_Missense_Mutation_p.C392S|ACO1_uc003zqy.3_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	392					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)										0.264368	62.485724	66.852357	23	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32424649	32424649	147	9	T	A	A	A	715	55	ACO1	3	3
TAF1L	138474	broad.mit.edu	37	9	32630549	32630549	+	Missense_Mutation	SNP	T	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32630549T>C	uc003zrg.1	-	c.5029A>G	c.(5029-5031)ACG>GCG	p.T1677A		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1677					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.327957	191.575257	196.477498	61	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32630549	32630549	16044	9	T	C	C	C	741	57	TAF1L	4	4
TAF1L	138474	broad.mit.edu	37	9	32631092	32631092	+	Missense_Mutation	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32631092A>T	uc003zrg.1	-	c.4486T>A	c.(4486-4488)TGT>AGT	p.C1496S		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1496					male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.257143	98.181441	105.635639	36	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32631092	32631092	16044	9	A	T	T	T	91	7	TAF1L	3	3
KIAA2026	158358	broad.mit.edu	37	9	5921606	5921606	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5921606C>A	uc003zjq.3	-	c.4390G>T	c.(4390-4392)GTA>TTA	p.V1464L	KIAA2026_uc010mht.2_Missense_Mutation_p.V639L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1464										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)										0.272727	54.349192	57.404002	18	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5921606	5921606	8581	9	C	A	A	A	221	17	KIAA2026	2	2
SMC5	23137	broad.mit.edu	37	9	72879306	72879306	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72879306G>T	uc004ahr.2	+	c.272G>T	c.(271-273)TGT>TTT	p.C91F		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	91					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3														0.171053	24.329581	32.282079	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72879306	72879306	15284	9	G	T	T	T	624	48	SMC5	2	2
SMC5	23137	broad.mit.edu	37	9	72965093	72965093	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72965093G>A	uc004ahr.2	+	c.2953G>A	c.(2953-2955)GAA>AAA	p.E985K	SMC5_uc011lry.1_Missense_Mutation_p.E130K	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	985					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3														0.111111	6.601915	18.79648	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72965093	72965093	15284	9	G	A	A	A	585	45	SMC5	2	2
PCSK5	5125	broad.mit.edu	37	9	78710935	78710935	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:78710935G>C	uc004ajz.2	+	c.1024G>C	c.(1024-1026)GGA>CGA	p.G342R	PCSK5_uc004ajy.2_Missense_Mutation_p.G342R|PCSK5_uc004aka.2_Non-coding_Transcript	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	342	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														0.137931	9.05338	16.463803	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78710935	78710935	12024	9	G	C	C	C	507	39	PCSK5	3	3
C9orf79	286234	broad.mit.edu	37	9	90501444	90501444	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90501444C>T	uc004app.3	+	c.2042C>T	c.(2041-2043)TCT>TTT	p.S681F	C9orf79_uc004apo.1_Missense_Mutation_p.S493F	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	681						integral to membrane				ovary(3)	3														0.183673	19.144308	23.746794	9	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90501444	90501444	2613	9	C	T	T	T	416	32	C9orf79	2	2
C9orf79	286234	broad.mit.edu	37	9	90501555	90501555	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:90501555G>T	uc004app.3	+	c.2153G>T	c.(2152-2154)CGG>CTG	p.R718L	C9orf79_uc004apo.1_Missense_Mutation_p.R530L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	718						integral to membrane				ovary(3)	3														0.304348	39.021009	40.600194	14	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90501555	90501555	2613	9	G	T	T	T	507	39	C9orf79	1	1
CHRDL1	91851	broad.mit.edu	37	X	109919543	109919543	+	Missense_Mutation	SNP	C	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109919543C>G	uc004eou.3	-	c.1293G>C	c.(1291-1293)ATG>ATC	p.M431I	CHRDL1_uc004eov.2_Missense_Mutation_p.M420I|CHRDL1_uc004eow.2_Missense_Mutation_p.M429I|CHRDL1_uc010nps.2_Missense_Mutation_p.M430I|CHRDL1_uc004eot.2_Missense_Mutation_p.M350I|CHRDL1_uc011mss.1_Missense_Mutation_p.M345I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	423					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0														0.15	13.12466	17.820626	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109919543	109919543	3507	23	C	G	G	G	221	17	CHRDL1	3	3
UPF3B	65109	broad.mit.edu	37	X	118979178	118979178	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118979178A>C	uc004erz.1	-	c.452T>G	c.(451-453)GTC>GGC	p.V151G	UPF3B_uc004esa.1_Missense_Mutation_p.V151G	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	151	Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3														0.62069	122.806738	123.547584	36	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118979178	118979178	17566	23	A	C	C	C	130	10	UPF3B	4	4
ARHGAP36	158763	broad.mit.edu	37	X	130215841	130215841	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130215841T>A	uc004evz.2	+	c.202T>A	c.(202-204)TAC>AAC	p.Y68N	ARHGAP36_uc004ewa.2_Missense_Mutation_p.Y56N|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Y37N|ARHGAP36_uc004ewc.2_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	68					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.64	149.569431	150.870861	48	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130215841	130215841	895	23	T	A	A	A	793	61	ARHGAP36	3	3
GPR112	139378	broad.mit.edu	37	X	135429209	135429209	+	Missense_Mutation	SNP	G	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135429209G>C	uc004ezu.1	+	c.3344G>C	c.(3343-3345)AGA>ACA	p.R1115T	GPR112_uc010nsb.1_Missense_Mutation_p.R910T|GPR112_uc010nsc.1_Missense_Mutation_p.R882T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1115	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				0.566265	150.796427	151.11233	47	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135429209	135429209	6903	23	G	C	C	C	429	33	GPR112	3	3
MAGEC1	9947	broad.mit.edu	37	X	140992863	140992863	+	Splice_Site_SNP	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140992863G>T	uc004fbt.2	+	c.4_splice	c.e3+1	p.G2_splice	MAGEC1_uc010nsl.1_Splice_Site_SNP	NM_005462	NP_005453			melanoma antigen family C, 1								protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.5	57.648785	57.648785	18	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	140992863	140992863	9561	23	G	T	T	T	572	44	MAGEC1	5	2
MAGEC1	9947	broad.mit.edu	37	X	140996099	140996099	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140996099C>A	uc004fbt.2	+	c.2909C>A	c.(2908-2910)CCT>CAT	p.P970H	MAGEC1_uc010nsl.1_Missense_Mutation_p.P37H	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	970	MAGE.						protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.571429	225.25997	225.813256	72	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140996099	140996099	9561	23	C	A	A	A	312	24	MAGEC1	2	2
SLITRK2	84631	broad.mit.edu	37	X	144904367	144904367	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904367G>T	uc004fcd.2	+	c.424G>T	c.(424-426)GAC>TAC	p.D142Y	SLITRK2_uc010nsp.2_Missense_Mutation_p.D142Y|SLITRK2_uc010nso.2_Missense_Mutation_p.D142Y|SLITRK2_uc011mwq.1_Missense_Mutation_p.D142Y|SLITRK2_uc011mwr.1_Missense_Mutation_p.D142Y|SLITRK2_uc011mws.1_Missense_Mutation_p.D142Y|SLITRK2_uc004fcg.2_Missense_Mutation_p.D142Y|SLITRK2_uc011mwt.1_Missense_Mutation_p.D142Y	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	142	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.55	71.052735	71.139755	22	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144904367	144904367	15241	23	G	T	T	T	481	37	SLITRK2	1	1
IL9R	3581	broad.mit.edu	37	X	155233519	155233519	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:155233519C>A	uc004fnv.1	+	c.432C>A	c.(430-432)CAC>CAA	p.H144Q	IL9R_uc010nvn.2_Missense_Mutation_p.H123Q|IL9R_uc004fnu.1_Missense_Mutation_p.T189K	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	144	Extracellular (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.172414	8.133077	11.131593	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155233519	155233519	8009	23	C	A	A	A	246	19	IL9R	1	1
DMD	1756	broad.mit.edu	37	X	32430028	32430028	+	Silent	SNP	A	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32430028A>T	uc004dda.1	-	c.4074T>A	c.(4072-4074)GCT>GCA	p.A1358A	DMD_uc004dcw.2_Silent_p.A14A|DMD_uc004dcx.2_Silent_p.A17A|DMD_uc004dcz.2_Silent_p.A1235A|DMD_uc004dcy.1_Silent_p.A1354A|DMD_uc004ddb.1_Silent_p.A1350A|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1358	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.857143	62.764371	65.348043	18	3	KEEP	---	---	---	---	capture		Silent	SNP	32430028	32430028	4760	23	A	T	T	T	80	7	DMD	3	3
FAM47B	170062	broad.mit.edu	37	X	34962859	34962859	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34962859C>A	uc004ddi.1	+	c.1911C>A	c.(1909-1911)GAC>GAA	p.D637E		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	637										ovary(3)|breast(1)	4														0.666667	132.531345	133.92581	38	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34962859	34962859	5791	23	C	A	A	A	246	19	FAM47B	1	1
CACNA1F	778	broad.mit.edu	37	X	49065117	49065117	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49065117G>T	uc004dnb.2	-	c.5014C>A	c.(5014-5016)CGC>AGC	p.R1672S	CACNA1F_uc010nip.2_Missense_Mutation_p.R1661S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1672	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.571429	38.402741	38.49631	12	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49065117	49065117	2659	23	G	T	T	T	481	37	CACNA1F	1	1
PPP1R3F	89801	broad.mit.edu	37	X	49142326	49142326	+	Missense_Mutation	SNP	G	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49142326G>A	uc004dnh.1	+	c.1174G>A	c.(1174-1176)GCA>ACA	p.A392T	PPP1R3F_uc011mnd.1_Missense_Mutation_p.A63T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A46T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A46T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	392	Extracellular (Potential).					integral to membrane				ovary(2)	2	Ovarian(276;0.236)													0.466667	20.34014	20.352566	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49142326	49142326	12810	23	G	A	A	A	494	38	PPP1R3F	1	1
HUWE1	10075	broad.mit.edu	37	X	53642720	53642720	+	Silent	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53642720C>A	uc004dsp.2	-	c.2034G>T	c.(2032-2034)ACG>ACT	p.T678T		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	678					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.684211	40.480135	41.053325	13	6	KEEP	---	---	---	---	capture		Silent	SNP	53642720	53642720	7761	23	C	A	A	A	392	31	HUWE1	1	1
HUWE1	10075	broad.mit.edu	37	X	53643940	53643940	+	Missense_Mutation	SNP	C	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53643940C>T	uc004dsp.2	-	c.1948G>A	c.(1948-1950)GAT>AAT	p.D650N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	650					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17														0.533333	26.601447	26.616009	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53643940	53643940	7761	23	C	T	T	T	377	29	HUWE1	2	2
NLGN4X	57502	broad.mit.edu	37	X	5821830	5821830	+	Missense_Mutation	SNP	T	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5821830T>A	uc010ndi.2	-	c.1000A>T	c.(1000-1002)ACT>TCT	p.T334S	NLGN4X_uc004crp.2_Missense_Mutation_p.T317S|NLGN4X_uc010ndh.2_Missense_Mutation_p.T297S|NLGN4X_uc004crq.2_Missense_Mutation_p.T297S|NLGN4X_uc004crr.2_Missense_Mutation_p.T297S|NLGN4X_uc010ndj.2_Missense_Mutation_p.T297S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	297	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.473684	53.334153	53.356654	18	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5821830	5821830	10867	23	T	A	A	A	767	59	NLGN4X	3	3
KIF4A	24137	broad.mit.edu	37	X	69622523	69622523	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69622523C>A	uc004dyg.2	+	c.2597C>A	c.(2596-2598)GCC>GAC	p.A866D	KIF4A_uc010nkw.2_Missense_Mutation_p.A866D	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	866	Potential.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.714286	31.652372	32.228084	10	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69622523	69622523	8614	23	C	A	A	A	338	26	KIF4A	2	2
TBX22	50945	broad.mit.edu	37	X	79278703	79278703	+	Missense_Mutation	SNP	A	G	G			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79278703A>G	uc010nmg.1	+	c.320A>G	c.(319-321)GAC>GGC	p.D107G	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.D107G	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	107	T-box.				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				0.666667	70.90973	71.647766	20	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79278703	79278703	16184	23	A	G	G	G	130	10	TBX22	4	4
CYLC1	1538	broad.mit.edu	37	X	83129059	83129059	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83129059C>A	uc004eei.1	+	c.1343C>A	c.(1342-1344)TCT>TAT	p.S448Y	CYLC1_uc004eeh.1_Missense_Mutation_p.S447Y	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	448	5.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.454545	12.135009	12.158841	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83129059	83129059	4306	23	C	A	A	A	416	32	CYLC1	2	2
DACH2	117154	broad.mit.edu	37	X	85950089	85950089	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85950089C>A	uc004eew.2	+	c.838C>A	c.(838-840)CAT>AAT	p.H280N	DACH2_uc004eex.2_Missense_Mutation_p.H267N|DACH2_uc010nmq.2_Missense_Mutation_p.H146N|DACH2_uc011mra.1_Missense_Mutation_p.H113N|DACH2_uc010nmr.2_Missense_Mutation_p.H61N	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.6875	38.730456	39.230952	11	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85950089	85950089	4387	23	C	A	A	A	221	17	DACH2	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133828	91133828	+	Missense_Mutation	SNP	G	T	T			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133828G>T	uc004efk.1	+	c.2589G>T	c.(2587-2589)CAG>CAT	p.Q863H	PCDH11X_uc004efl.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efo.1_Missense_Mutation_p.Q863H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efm.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efn.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efh.1_Missense_Mutation_p.Q863H|PCDH11X_uc004efj.1_Missense_Mutation_p.Q863H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	863	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.653846	51.263185	51.802775	17	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133828	91133828	11928	23	G	T	T	T	425	33	PCDH11X	2	2
ZFY	7544	broad.mit.edu	37	Y	2847526	2847526	+	Missense_Mutation	SNP	A	C	C			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:2847526A>C	uc004fqj.2	+	c.1898A>C	c.(1897-1899)CAT>CCT	p.H633P	ZFY_uc011nan.1_Missense_Mutation_p.H442P|ZFY_uc010nwe.2_Missense_Mutation_p.H556P	NM_003411	NP_003402	P08048	ZFY_HUMAN	zinc finger protein, Y-linked isoform 1	633	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity|zinc ion binding				0														0.714286	93.090639	94.534058	25	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2847526	2847526	18252	24	A	C	C	C	104	8	ZFY	4	4
PCDH11Y	83259	broad.mit.edu	37	Y	4967037	4967037	+	Missense_Mutation	SNP	C	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:4967037C>A	uc004fqo.2	+	c.1418C>A	c.(1417-1419)GCT>GAT	p.A473D	PCDH11Y_uc010nwg.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fql.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.A462D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.A473D|PCDH11Y_uc004fqp.1_Missense_Mutation_p.A244D	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	473	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.6	69.292867	69.604701	21	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4967037	4967037	11929	24	C	A	A	A	364	28	PCDH11Y	2	2
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4796953_4796955delGAG	uc002cxn.2	+	c.1207_1209delGAG	c.(1207-1209)GAGdel	p.E409del		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	409										central_nervous_system(1)	1														0.31			4	9		---	---	---	---	capture_indel		In_Frame_Del	DEL	4796953	4796955	1883	16	GAG	-	-	-	585	45	C16orf71	5	5
SPAG7	9552	broad.mit.edu	37	17	4864095	4864095	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4864095_4864095delC	uc002gae.2	-	c.139_139delG	c.(139-141)GAGfs	p.E47fs	SPAG7_uc002gad.2_5'UTR|SPAG7_uc002gaf.2_Frame_Shift_Del_p.E47fs	NM_004890	NP_004881	O75391	SPAG7_HUMAN	sperm associated antigen 7	47	R3H.|Nuclear localization signal (Potential).					nucleus	nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2														0.31			23	51		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	4864095	4864095	15486	17	C	-	-	-	390	30	SPAG7	5	5
ZNF226	7769	broad.mit.edu	37	19	44679818	44679818	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44679818_44679818delG	uc002oyp.2	+	c.403_403delG	c.(403-405)GGGfs	p.G135fs	ZNF226_uc002oyq.2_Frame_Shift_Del_p.G18fs|ZNF226_uc002oyr.2_Frame_Shift_Del_p.G18fs|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Frame_Shift_Del_p.G135fs|ZNF226_uc002oyt.2_Frame_Shift_Del_p.G135fs	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				Pancreas(115;581 1665 13228 19278 50070)								0.50			28	28		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44679818	44679818	18371	19	G	-	-	-	455	35	ZNF226	5	5
KCNA3	3738	broad.mit.edu	37	1	111216207	111216207	+	Frame_Shift_Del	DEL	C	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111216207_111216207delC	uc001dzv.1	-	c.1225_1225delG	c.(1225-1227)GTCfs	p.V409fs		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	409	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.40			18	27		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	111216207	111216207	8309	1	C	-	-	-	234	18	KCNA3	5	5
DUSP27	92235	broad.mit.edu	37	1	167097478	167097479	+	Frame_Shift_Ins	INS	-	A	A			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167097478_167097479insA	uc001geb.1	+	c.3110_3111insA	c.(3109-3111)CCAfs	p.P1037fs		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1037					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.35			25	46		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	167097478	167097479	5009	1	-	A	A	A	273	21	DUSP27	5	5
ZNF804A	91752	broad.mit.edu	37	2	185731105	185731106	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185731105_185731106delGA	uc002uph.2	+	c.121_122delGA	c.(121-123)GAGfs	p.E41fs		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	41						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.39			22	34		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	185731105	185731106	18768	2	GA	-	-	-	585	45	ZNF804A	5	5
CELSR3	1951	broad.mit.edu	37	3	48688324	48688324	+	Splice_Site_Del	DEL	C	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48688324_48688324delC	uc003cuf.1	-	c.6580_splice	c.e17+1	p.V2194_splice	CELSR3_uc010hkg.2_Splice_Site_Del_p.V102_splice|CELSR3_uc003cul.2_Splice_Site_Del_p.V2124_splice	NM_001407	NP_001398			cadherin EGF LAG seven-pass G-type receptor 3						homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.35			22	40		---	---	---	---	capture_indel		Splice_Site_Del	DEL	48688324	48688324	3356	3	C	-	-	-	234	18	CELSR3	5	5
RFESD	317671	broad.mit.edu	37	5	94990059	94990059	+	Frame_Shift_Del	DEL	G	-	-			TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94990059_94990059delG	uc003klg.2	+	c.357_357delG	c.(355-357)TTGfs	p.L119fs	RFESD_uc011cun.1_Frame_Shift_Del_p.L119fs|RFESD_uc003klf.2_Frame_Shift_Del_p.L66fs|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_001131066	NP_001124538	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 1	66	Rieske 2.|Rieske 1.				oxidation-reduction process		2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)										0.41			30	43		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	94990059	94990059	13720	5	G	-	-	-	607	47	RFESD	5	5
C6orf153	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs3833662		TCGA-64-5778-01	TCGA-64-5778-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	c.22_27delGCCGGG	c.(22-27)GCCGGGdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	14_15					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.50			3	3		---	---	---	---	capture_indel		In_Frame_Del	DEL	42989414	42989419	2442	6	GCCGGG	-	-	-	494	38	C6orf153	5	5
