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	Transcript_Exon	Transcript_Position	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	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
NUP210L	91181	broad.mit.edu	37	1	153982269	153982269	+	Intron	DEL	A	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153982269delA	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185992421	185992421	+	Intron	DEL	T	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185992421delT	uc001grq.1	+							NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	208428857	208428857	+	IGR	DEL	C	-	-	rs5780444		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208428857delC								PLXNA2 (11192 upstream) : None (None downstream)																																			---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231093786	231093786	+	Intron	DEL	T	-	-	rs67711975		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231093786delT	uc001huf.3	-						TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_Intron|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron	NM_024525	NP_078801			tetratricopeptide repeat domain 13 isoform a								binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)														---	---	---	---
RRM2	6241	broad.mit.edu	37	2	10264236	10264236	+	Intron	DEL	T	-	-	rs71391192		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10264236delT	uc002rah.2	+							NM_001034	NP_001025			ribonucleotide reductase M2 polypeptide isoform						deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)														---	---	---	---
LCT	3938	broad.mit.edu	37	2	136552603	136552604	+	Intron	INS	-	CG	CG	rs150578954	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136552603_136552604insCG	uc002tuu.1	-							NM_002299	NP_002290			lactase-phlorizin hydrolase preproprotein						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)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)														---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158165415	158165416	+	Intron	INS	-	T	T	rs140945706	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158165415_158165416insT	uc002tzg.2	+						GALNT5_uc010zci.1_Intron	NM_014568	NP_055383			N-acetylgalactosaminyltransferase 5						glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4																		---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230902403	230902403	+	Intron	DEL	T	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230902403delT	uc002vqd.1	-						FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740			solute carrier family 16 (monocarboxylic acid							integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
Unknown	0	broad.mit.edu	37	3	159820697	159820698	+	Intron	INS	-	A	A	rs145340132	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159820697_159820698insA	uc003fcw.1	-											Homo sapiens cDNA FLJ39842 fis, clone SPLEN2014293.																														---	---	---	---
WDR53	348793	broad.mit.edu	37	3	196288493	196288494	+	Intron	INS	-	A	A	rs140815446		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196288493_196288494insA	uc003fwt.2	-							NM_182627	NP_872433			WD repeat domain 53											breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)														---	---	---	---
C4orf22	255119	broad.mit.edu	37	4	81307673	81307674	+	Intron	INS	-	C	C	rs138985849		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81307673_81307674insC	uc003hmf.2	+						C4orf22_uc010ijp.2_Intron	NM_152770	NP_689983			hypothetical protein LOC255119											skin(2)	2																		---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183673226	183673227	+	Intron	INS	-	A	A	rs5864797		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183673226_183673227insA	uc003ivd.1	+						ODZ3_uc003ive.1_Intron	NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
GUSBP1	728411	broad.mit.edu	37	5	21459401	21459401	+	5'Flank	DEL	A	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21459401delA	uc010iub.2	+						GUSBP1_uc011cnn.1_Intron|GUSBP1_uc003jgh.3_5'Flank|GUSBP1_uc003jgf.3_5'Flank|GUSBP1_uc003jgg.3_5'Flank	NR_027028				SubName: Full=Putative uncharacterized protein GUSBL2;												0																		---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180486891	180486892	+	3'UTR	INS	-	G	G	rs151240170	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180486891_180486892insG	uc003mmt.2	+	11						NM_152547	NP_689760			butyrophilin-like 9 precursor							integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35927057	35927057	+	Intron	DEL	T	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35927057delT	uc003olm.2	-						SLC26A8_uc010jwa.2_Intron|SLC26A8_uc003olk.2_Intron|SLC26A8_uc003oln.2_Intron|SLC26A8_uc003oll.2_Intron	NM_052961	NP_443193			solute carrier family 26, member 8 isoform a						cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2																		---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2749072	2749073	+	Intron	INS	-	GGCCTCCCCAG	GGCCTCCCCAG	rs142816481	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2749072_2749073insGGCCTCCCCAG	uc003smr.1	+						AMZ1_uc003sms.1_Intron|AMZ1_uc011jwa.1_Intron	NM_133463	NP_597720			archaelysin family metallopeptidase 1								metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)												OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ARPC1B	10095	broad.mit.edu	37	7	98985522	98985523	+	Intron	INS	-	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98985522_98985523insA	uc003upz.2	+						ARPC1A_uc011kit.1_Intron|ARPC1B_uc003uqa.2_Intron|ARPC1B_uc003uqb.2_Intron|ARPC1B_uc003uqc.2_Intron|ARPC1B_uc003uqd.2_5'Flank	NM_005720	NP_005711			actin related protein 2/3 complex subunit 1B						cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TFR2	7036	broad.mit.edu	37	7	100230357	100230357	+	Intron	DEL	G	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100230357delG	uc003uvv.1	-						TFR2_uc010lhc.1_Intron|TFR2_uc003uvu.1_Intron	NM_003227	NP_003218			transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)																	---	---	---	---
DPY19L4	286148	broad.mit.edu	37	8	95795708	95795708	+	Intron	DEL	A	-	-	rs11309969		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95795708delA	uc003ygx.2	+							NM_181787	NP_861452			dpy-19-like 4							integral to membrane				ovary(2)	2	Breast(36;3.85e-06)																	---	---	---	---
TMEM71	137835	broad.mit.edu	37	8	133770870	133770870	+	Intron	DEL	T	-	-	rs11334814		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133770870delT	uc003ytp.2	-						TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Intron	NM_144649	NP_653250			transmembrane protein 71 isoform 1							integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)															---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5080892	5080892	+	Intron	DEL	C	-	-	rs33925764		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5080892delC	uc010mhm.2	+						JAK2_uc003ziw.2_Intron	NM_004972	NP_004963			Janus kinase 2						actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---
GNE	10020	broad.mit.edu	37	9	36228811	36228811	+	Intron	DEL	G	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36228811delG	uc010mlh.2	-						CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Intron|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Intron|GNE_uc010mlj.2_Intron	NM_005476	NP_005467			UDP-N-acetylglucosamine-2-epimerase/N-						cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	GAATA	GAATA	rs10124596		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78790207_78790208insGAATA	uc004ajz.2	+						PCSK5_uc004ajy.2_Frame_Shift_Ins_p.R688fs|PCSK5_uc004aka.2_Intron	NM_006200	NP_006191			proprotein convertase subtilisin/kexin type 5						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																		---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101822425	101822425	+	Intron	DEL	A	-	-	rs10709284		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101822425delA	uc004azb.1	+							NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)																---	---	---	---
DNAJC9	23234	broad.mit.edu	37	10	75006116	75006116	+	Intron	DEL	T	-	-	rs112261343		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75006116delT	uc001jtr.2	-						DNAJC9_uc010qkg.1_Intron	NM_015190	NP_056005			DnaJ homolog, subfamily C, member 9						protein folding		heat shock protein binding|unfolded protein binding				0	Prostate(51;0.0119)																	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91353283	91353284	+	Intron	INS	-	G	G	rs113042864		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91353283_91353284insG	uc001kgp.1	-						PANK1_uc001kgn.1_Intron|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Intron|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878			pantothenate kinase 1 isoform alpha						coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)													---	---	---	---
PIPSL	266971	broad.mit.edu	37	10	95718422	95718422	+	3'UTR	DEL	T	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95718422delT	uc009xuj.2	-	1						NR_002319				RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;												0																		---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10653738	10653738	+	Intron	DEL	T	-	-	rs72349102		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10653738delT	uc010rcc.1	-						MRVI1_uc001miw.2_Intron|MRVI1_uc010rcb.1_Intron|MRVI1_uc009ygb.1_Intron|MRVI1_uc001mix.2_Intron|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Intron|MRVI1_uc010rce.1_Intron	NM_001100167	NP_001093637			JAW1-related protein isoform c						platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)														---	---	---	---
RSRC2	65117	broad.mit.edu	37	12	123003139	123003140	+	Intron	INS	-	A	A	rs139622590		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123003139_123003140insA	uc001ucr.2	-						RSRC2_uc001uco.2_Intron|RSRC2_uc001ucp.2_Intron|RSRC2_uc001ucq.2_Intron|RSRC2_uc001ucs.2_Intron|RSRC2_uc001uct.2_Intron|RSRC2_uc001ucu.2_Intron	NM_023012	NP_075388			arginine/serine-rich coiled-coil 2 isoform a											ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)														---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70293336	70293347	+	Intron	DEL	GTGTGTGAGAGA	-	-	rs9599500		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70293336_70293347delGTGTGTGAGAGA	uc001vip.2	-						KLHL1_uc010thm.1_Intron	NM_020866	NP_065917			kelch-like 1 protein						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106004729	106004730	+	Intron	INS	-	CT	CT			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106004729_106004730insCT	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																OREG0022972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
POTEB	339010	broad.mit.edu	37	15	22077310	22077310	+	Intron	DEL	A	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22077310delA	uc010tzr.1	-						POTEB_uc010tzq.1_Intron	NM_207355	NP_997238			protein expressed in prostate, ovary, testis,												0																		---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40633221	40633222	+	5'Flank	DEL	CT	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40633221_40633222delCT	uc001zlh.3	-						C15orf52_uc001zli.1_5'Flank	NM_207380	NP_997263			hypothetical protein LOC388115											large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)														---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48052328	48052329	+	Intron	INS	-	AAAAG	AAAAG	rs75506472		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48052328_48052329insAAAAG	uc010bek.2	+						SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvx.1_Intron|SEMA6D_uc001zvy.2_Intron|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871			semaphorin 6D isoform 4 precursor						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11064866	11064866	+	Intron	DEL	T	-	-	rs71404430		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11064866delT	uc002dao.2	+						CLEC16A_uc002dan.3_Intron	NM_015226	NP_056041			C-type lectin domain family 16, member A											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CDC6	990	broad.mit.edu	37	17	38450980	38450980	+	Intron	DEL	T	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38450980delT	uc002huj.1	+							NM_001254	NP_001245			cell division cycle 6 protein						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3																		---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16625243	16625243	+	Intron	DEL	G	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16625243delG	uc002neh.1	+						MED26_uc002nee.2_Intron|C19orf44_uc002neg.2_Intron|C19orf44_uc010eai.1_Intron	NM_032207	NP_115583			hypothetical protein LOC84167												0																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17732906	17732909	+	Intron	DEL	AGAG	-	-	rs71336625		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17732906_17732909delAGAG	uc002nhd.2	-							NM_001080421	NP_001073890			unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33351376	33351377	+	Intron	INS	-	A	A	rs5827823		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33351376_33351377insA	uc002ntv.3	-						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Intron|SLC7A9_uc002ntw.3_5'UTR	NM_001126335	NP_001119807			solute carrier family 7, member 9						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55400756	55400759	+	Intron	DEL	AAAC	-	-	rs12976533		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55400756_55400759delAAAC	uc002qhr.1	+						FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron	NM_002000	NP_001991			Fc alpha receptor isoform a precursor						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)														---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56569395	56569395	+	Intron	DEL	A	-	-	rs150910153		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56569395delA	uc002qmj.2	+						NLRP5_uc002qmi.2_Intron	NM_153447	NP_703148			NACHT, LRR and PYD containing protein 5							mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1106656	1106658	+	Intron	DEL	TAT	-	-			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1106656_1106658delTAT	uc002wel.3	+						PSMF1_uc010zpo.1_Intron|PSMF1_uc002wem.3_Intron|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Intron	NM_178578	NP_848693			proteasome inhibitor subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding				0																		---	---	---	---
C20orf132	140699	broad.mit.edu	37	20	35788406	35788407	+	Intron	DEL	AA	-	-	rs72278393		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35788406_35788407delAA	uc010zvu.1	-						C20orf132_uc002xgk.2_5'Flank|C20orf132_uc002xgm.2_Intron|C20orf132_uc002xgn.2_Intron	NM_152503	NP_689716			hypothetical protein LOC140699 isoform 1												0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25153626	25153627	+	Intron	INS	-	AC	AC			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25153626_25153627insAC	uc003abd.1	-						PIWIL3_uc011ajx.1_Intron|PIWIL3_uc011ajy.1_Intron|PIWIL3_uc010gut.1_Intron	NM_001008496	NP_001008496			piwi-like 3						cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30367191	30367195	+	Intron	DEL	TCTTT	-	-	rs67814292		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30367191_30367195delTCTTT	uc003agv.3	+						MTMR3_uc003agu.3_Intron|MTMR3_uc003agw.3_Intron	NM_021090	NP_066576			myotubularin-related protein 3 isoform c						phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)															---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44127852	44127853	+	Intron	INS	-	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44127852_44127853insT	uc003bdy.1	-						EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_Intron|EFCAB6_uc010gzk.1_5'Flank|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Intron|EFCAB6_uc003beb.3_Intron	NM_022785	NP_073622			CAP-binding protein complex interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974057	22974057	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22974057G>A	uc001bgc.3	+	3	622	c.519G>A	c.(517-519)TCG>TCA	p.S173S	C1QC_uc001bga.3_Silent_p.S173S|C1QC_uc001bgb.2_Silent_p.S173S	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	173	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40887656	40887656	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40887656G>A	uc001cfj.2	+	10	1238	c.1173G>A	c.(1171-1173)CAG>CAA	p.Q391Q	SMAP2_uc001cfk.2_Silent_p.Q361Q|SMAP2_uc010oji.1_Silent_p.Q308Q|SMAP2_uc010ojj.1_Silent_p.Q207Q	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	391	Interaction with PICALM (By similarity).|Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120539720	120539720	+	Silent	SNP	G	A	A	rs150410907		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120539720G>A	uc001eik.2	-	4	907	c.651C>T	c.(649-651)TAC>TAT	p.Y217Y	NOTCH2_uc001eil.2_Silent_p.Y217Y|NOTCH2_uc001eim.3_Silent_p.Y134Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	217	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)				N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				---	---	---	---
ECM1	1893	broad.mit.edu	37	1	150484934	150484934	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150484934C>T	uc001eus.2	+	8	1389	c.1190C>T	c.(1189-1191)GCC>GTC	p.A397V	ECM1_uc001eut.2_Missense_Mutation_p.A272V|ECM1_uc001euu.2_Missense_Mutation_p.A426V|ECM1_uc001euv.2_Missense_Mutation_p.A424V|ECM1_uc009wlu.2_Missense_Mutation_p.A157V	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	397	2 X approximate repeats.|2.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160326122	160326122	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160326122C>T	uc001fvx.2	+	14	1748	c.1624C>T	c.(1624-1626)CTA>TTA	p.L542L	NCSTN_uc001fvy.2_Silent_p.L522L|NCSTN_uc010pjf.1_Silent_p.L404L|NCSTN_uc001fvz.2_Silent_p.L322L|NCSTN_uc010pjg.1_Silent_p.L284L	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	542	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
TADA1	117143	broad.mit.edu	37	1	166833124	166833124	+	Silent	SNP	G	A	A	rs141542819		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166833124G>A	uc001gdw.2	-	4	451	c.267C>T	c.(265-267)TCC>TCT	p.S89S	TADA1_uc001gdv.2_5'Flank|TADA1_uc009wve.2_Silent_p.S89S	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1-like	89					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1																		---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201618003	201618003	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201618003C>T	uc001gwu.2	+	1	554	c.207C>T	c.(205-207)TCC>TCT	p.S69S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	69					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220191835	220191835	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220191835C>A	uc001hly.1	-	12	1720	c.1450G>T	c.(1450-1452)GTC>TTC	p.V484F	EPRS_uc010puf.1_Missense_Mutation_p.V235F|EPRS_uc001hlz.1_Missense_Mutation_p.V484F|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	484	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)													---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234603278	234603278	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234603278C>A	uc001hwd.2	-	4	1218	c.1218G>T	c.(1216-1218)AAG>AAT	p.K406N		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	406					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
PPPDE1	51029	broad.mit.edu	37	1	244855285	244855285	+	Missense_Mutation	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244855285A>G	uc001iao.2	+	4	578	c.314A>G	c.(313-315)CAT>CGT	p.H105R	PPPDE1_uc001iap.2_Missense_Mutation_p.H72R	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	105	PPPDE peptidase.									breast(3)	3																		---	---	---	---
LPIN1	23175	broad.mit.edu	37	2	11964841	11964841	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11964841C>T	uc010yjn.1	+	21	2871	c.2597C>T	c.(2596-2598)ACC>ATC	p.T866I	LPIN1_uc010yjm.1_Missense_Mutation_p.T951I|LPIN1_uc002rbt.2_Missense_Mutation_p.T866I|LPIN1_uc010yjo.1_Missense_Mutation_p.T367I	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	866					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)														---	---	---	---
XDH	7498	broad.mit.edu	37	2	31572580	31572580	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31572580G>A	uc002rnv.1	-	26	3020	c.2941C>T	c.(2941-2943)CGG>TGG	p.R981W		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	981					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			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	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)													---	---	---	---
VIT	5212	broad.mit.edu	37	2	37035950	37035950	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37035950C>T	uc002rpl.2	+	15	1946	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	VIT_uc002rpm.2_Silent_p.N553N|VIT_uc010ezv.2_Silent_p.N531N|VIT_uc010ezw.2_Silent_p.N532N	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	560	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---
NMS	129521	broad.mit.edu	37	2	101099720	101099720	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101099720G>A	uc002tan.1	+	10	463	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	152					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1																		---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103335364	103335364	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103335364A>C	uc002tcb.2	-	6	1008	c.940T>G	c.(940-942)TTT>GTT	p.F314V	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	314					transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4																		---	---	---	---
IL1A	3552	broad.mit.edu	37	2	113532634	113532634	+	3'UTR	SNP	G	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113532634G>T	uc002tig.2	-	7						NM_000575	NP_000566			interleukin 1, alpha proprotein						anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1																		---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130951728	130951728	+	Silent	SNP	G	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130951728G>T	uc002tqv.2	-	4	788	c.687C>A	c.(685-687)CGC>CGA	p.R229R		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	229					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)																	---	---	---	---
YSK4	80122	broad.mit.edu	37	2	135745629	135745629	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135745629C>T	uc002tue.1	-	7	844	c.813G>A	c.(811-813)TCG>TCA	p.S271S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S158S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.S288S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	271							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
TTN	7273	broad.mit.edu	37	2	179402435	179402435	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179402435C>T	uc010zfg.1	-	304	92019	c.91795G>A	c.(91795-91797)GAT>AAT	p.D30599N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24294N|TTN_uc010zfi.1_Missense_Mutation_p.D24227N|TTN_uc010zfj.1_Missense_Mutation_p.D24102N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31526							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179472999	179472999	+	Silent	SNP	T	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179472999T>C	uc010zfg.1	-	224	45131	c.44907A>G	c.(44905-44907)GGA>GGG	p.G14969G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8664G|TTN_uc010zfi.1_Silent_p.G8597G|TTN_uc010zfj.1_Silent_p.G8472G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15896							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182343498	182343498	+	Missense_Mutation	SNP	T	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182343498T>A	uc002unu.2	+	5	1334	c.571T>A	c.(571-573)TTT>ATT	p.F191I	ITGA4_uc010zfl.1_Missense_Mutation_p.F191I	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	191	FG-GAP 3.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)													---	---	---	---
DNER	92737	broad.mit.edu	37	2	230312248	230312248	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230312248C>T	uc002vpv.2	-	8	1417	c.1270G>A	c.(1270-1272)GGA>AGA	p.G424R	DNER_uc010zly.1_Missense_Mutation_p.G152R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	424	Extracellular (Potential).|EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)														---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238275939	238275939	+	Intron	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238275939A>G	uc002vwl.2	-						COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron	NM_004369	NP_004360			alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---
FHIT	2272	broad.mit.edu	37	3	60522603	60522603	+	Silent	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:60522603C>A	uc003dkx.3	-	5	464	c.93G>T	c.(91-93)GTG>GTT	p.V31V	FHIT_uc003dky.2_Silent_p.V31V|FHIT_uc010hnn.1_Silent_p.V31V	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	31	HIT.				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)				T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3				---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74351863	74351863	+	Silent	SNP	A	G	G	rs75253024	byFrequency;by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74351863A>G	uc003dpm.1	-	13	1844	c.1764T>C	c.(1762-1764)TCT>TCC	p.S588S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	588	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
COPG	22820	broad.mit.edu	37	3	128987415	128987415	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128987415C>T	uc003els.2	+	17	1826	c.1726C>T	c.(1726-1728)CTC>TTC	p.L576F	COPG_uc010htb.2_Missense_Mutation_p.L482F	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	576					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4																		---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189061023	189061023	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:189061023C>T	uc003izm.1	+	1	426	c.311C>T	c.(310-312)GCG>GTG	p.A104V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	104					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)														---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	475096	475096	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:475096C>T	uc003jbe.2	-	16	2515	c.2403G>A	c.(2401-2403)CTG>CTA	p.L801L	SLC9A3_uc011clx.1_Silent_p.L792L|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	801	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	475129	475129	+	Missense_Mutation	SNP	C	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:475129C>G	uc003jbe.2	-	16	2482	c.2370G>C	c.(2368-2370)CAG>CAC	p.Q790H	SLC9A3_uc011clx.1_Missense_Mutation_p.Q781H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	790	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	475242	475242	+	Missense_Mutation	SNP	C	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:475242C>G	uc003jbe.2	-	16	2369	c.2257G>C	c.(2257-2259)GAC>CAC	p.D753H	SLC9A3_uc011clx.1_Missense_Mutation_p.D744H|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	753	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	10992707	10992707	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10992707G>A	uc003jfa.1	-	19	3312	c.3167C>T	c.(3166-3168)ACG>ATG	p.T1056M	CTNND2_uc010itt.2_Missense_Mutation_p.T965M|CTNND2_uc011cmy.1_Missense_Mutation_p.T719M|CTNND2_uc011cmz.1_Missense_Mutation_p.T623M|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.T648M	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1056					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)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13717530	13717530	+	Missense_Mutation	SNP	T	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13717530T>A	uc003jfd.2	-	73	12641	c.12599A>T	c.(12598-12600)AAG>ATG	p.K4200M	DNAH5_uc003jfc.2_Missense_Mutation_p.K368M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79733463	79733463	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79733463G>A	uc003kgr.3	+	4	1261	c.959G>A	c.(958-960)AGA>AAA	p.R320K	ZFYVE16_uc010jak.1_Missense_Mutation_p.R320K|ZFYVE16_uc003kgp.2_Missense_Mutation_p.R320K|ZFYVE16_uc003kgq.3_Missense_Mutation_p.R320K|ZFYVE16_uc003kgs.3_Missense_Mutation_p.R320K	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	320					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)														---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229950	140229950	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229950G>A	uc003lhu.2	+	1	2594	c.1870G>A	c.(1870-1872)GTG>ATG	p.V624M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V624M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	624	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V624M(1)		large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346755	140346755	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140346755A>T	uc003lii.2	+	1	644	c.404A>T	c.(403-405)GAG>GTG	p.E135V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.E135V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	135	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140627003	140627003	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140627003G>A	uc003lje.2	+	1	1857	c.1857G>A	c.(1855-1857)GCG>GCA	p.A619A		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	619	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745345	140745345	+	Missense_Mutation	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140745345A>G	uc003lju.1	+	1	1448	c.1448A>G	c.(1447-1449)GAC>GGC	p.D483G	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_uc011das.1_Missense_Mutation_p.D483G	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	483	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161576230	161576230	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161576230T>G	uc003lyz.3	+	8	1397	c.1039T>G	c.(1039-1041)TTC>GTC	p.F347V	GABRG2_uc010jjc.2_Missense_Mutation_p.F387V|GABRG2_uc003lyy.3_Missense_Mutation_p.F347V|GABRG2_uc011dej.1_Missense_Mutation_p.F252V	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	347	Helical; (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)														---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24654688	24654688	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24654688A>C	uc003nej.2	-	5	613	c.588T>G	c.(586-588)ATT>ATG	p.I196M	TDP2_uc003nei.2_Missense_Mutation_p.I84M|TDP2_uc010jpu.1_Missense_Mutation_p.I196M	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	196					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
PRSS35	167681	broad.mit.edu	37	6	84233267	84233267	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84233267G>A	uc003pjz.2	+	2	270	c.107G>A	c.(106-108)CGG>CAG	p.R36Q	PRSS35_uc010kbm.2_Missense_Mutation_p.R36Q	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	36					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)														---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88854252	88854252	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88854252C>T	uc011dzq.1	-	2	4305	c.742G>A	c.(742-744)GCC>ACC	p.A248T	CNR1_uc010kbz.2_Missense_Mutation_p.A248T|CNR1_uc011dzr.1_Missense_Mutation_p.A248T|CNR1_uc011dzs.1_Missense_Mutation_p.A248T|CNR1_uc003pmq.3_Missense_Mutation_p.A248T|CNR1_uc011dzt.1_Missense_Mutation_p.A248T|CNR1_uc010kca.2_Missense_Mutation_p.A215T	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	248	Helical; Name=4; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		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;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109767510	109767510	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109767510G>A	uc003ptj.2	-	18	2664	c.2410C>T	c.(2410-2412)CGG>TGG	p.R804W	MICAL1_uc003ptk.2_Missense_Mutation_p.R804W|MICAL1_uc010kdr.2_Missense_Mutation_p.R718W|MICAL1_uc011eaq.1_Missense_Mutation_p.R823W	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	804					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)														---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153019026	153019026	+	5'Flank	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153019026T>G	uc003qpd.3	+						MYCT1_uc010kjc.1_5'Flank|MYCT1_uc003qpc.3_5'Flank	NM_025107	NP_079383			myc target 1							nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21628979	21628979	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21628979C>A	uc003svc.2	+	12	2158	c.2127C>A	c.(2125-2127)TTC>TTA	p.F709L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	709	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103986	53103986	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53103986C>T	uc003tpz.2	+	1	638	c.622C>T	c.(622-624)CGG>TGG	p.R208W		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	208											0																		---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102968125	102968125	+	Missense_Mutation	SNP	G	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102968125G>C	uc003vbo.2	-	4	659	c.408C>G	c.(406-408)GAC>GAG	p.D136E	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.D136E|DNAJC2_uc003vbp.2_5'UTR|DNAJC2_uc003vbq.1_RNA	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	136	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1																		---	---	---	---
BLK	640	broad.mit.edu	37	8	11400743	11400743	+	Missense_Mutation	SNP	G	C	C	rs151045602		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11400743G>C	uc003wty.2	+	2	591	c.10G>C	c.(10-12)GTA>CTA	p.V4L	BLK_uc003wtz.2_Intron	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	4					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---
FZD3	7976	broad.mit.edu	37	8	28385012	28385012	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28385012C>T	uc003xgx.2	+	5	1213	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y	FZD3_uc010lvb.2_Silent_p.Y245Y	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	245	Helical; Name=2; (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)														---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37730604	37730604	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37730604G>A	uc003xkm.1	-	4	1760	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	572	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)															---	---	---	---
C8orf86	389649	broad.mit.edu	37	8	38374012	38374012	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38374012G>A	uc003xlx.1	-	2	359	c.334C>T	c.(334-336)CAC>TAC	p.H112Y		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	112											0																		---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65509340	65509340	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65509340T>G	uc003xvj.2	-	6	1584	c.1380A>C	c.(1378-1380)AAA>AAC	p.K460N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	460					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)																---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99224702	99224702	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99224702G>A	uc003yil.1	-	6	842	c.586C>T	c.(586-588)CTC>TTC	p.L196F	NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Missense_Mutation_p.L196F	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	196	Helical; (Potential).					integral to membrane					0																		---	---	---	---
RECK	8434	broad.mit.edu	37	9	36087862	36087862	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36087862C>T	uc003zyv.2	+	9	895	c.809C>T	c.(808-810)TCT>TTT	p.S270F	RECK_uc003zyw.2_Missense_Mutation_p.S142F|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	270	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976957	119976957	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119976957C>T	uc004bjs.1	-	3	796	c.695G>A	c.(694-696)CGT>CAT	p.R232H	ASTN2_uc004bjr.1_Missense_Mutation_p.R232H|ASTN2_uc004bjt.1_Missense_Mutation_p.R232H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	232	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
CDK9	1025	broad.mit.edu	37	9	130551812	130551812	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130551812G>A	uc004bse.2	+	7	1232	c.1109G>A	c.(1108-1110)CGC>CAC	p.R370H		NM_001261	NP_001252	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	370					cell proliferation|positive regulation of viral transcription|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|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1																		---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140646788	140646788	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140646788C>T	uc011mfc.1	+	7	1213	c.1176C>T	c.(1174-1176)GAC>GAT	p.D392D	EHMT1_uc004coa.2_Silent_p.D392D|EHMT1_uc004cob.1_Silent_p.D361D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	392					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)														---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345151	38345151	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38345151A>C	uc001izh.2	+	5	2274	c.2096A>C	c.(2095-2097)AAA>ACA	p.K699T	ZNF33A_uc001izg.2_Missense_Mutation_p.K700T|ZNF33A_uc010qev.1_Missense_Mutation_p.K706T|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	699	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103296296	103296296	+	Intron	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103296296C>T	uc001kta.2	+						BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Intron	NM_033637	NP_378663			beta-transducin repeat containing protein						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)														---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113917036	113917036	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:113917036C>T	uc009xxy.1	-	19	2290	c.2092G>A	c.(2092-2094)GGG>AGG	p.G698R	GPAM_uc001kzp.2_Missense_Mutation_p.G698R|GPAM_uc001kzq.1_Missense_Mutation_p.G698R	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	698	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	134622029	134622029	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134622029C>T	uc010qux.1	-	50	7222	c.7222G>A	c.(7222-7224)GTC>ATC	p.V2408I		NM_017609	NP_060079			Homo sapiens cDNA, FLJ17989.																														---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4112528	4112528	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4112528G>A	uc001lyv.2	+	12	2126	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	STIM1_uc009yef.2_Missense_Mutation_p.R532Q|STIM1_uc009yeg.2_Missense_Mutation_p.D347N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	520	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)														---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46799045	46799045	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46799045T>G	uc001ndi.1	-	23	2916	c.2806A>C	c.(2806-2808)AAG>CAG	p.K936Q	CKAP5_uc009ylg.1_Missense_Mutation_p.K822Q|CKAP5_uc001ndj.1_Missense_Mutation_p.K936Q	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	936	HEAT 6.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46918479	46918479	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46918479C>T	uc001ndn.3	-	8	1009	c.863G>A	c.(862-864)CGC>CAC	p.R288H		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	288	Extracellular (Potential).|LDL-receptor class A 7.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)														---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000616	56000616	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56000616G>T	uc010rjc.1	-	1	46	c.46C>A	c.(46-48)CAT>AAT	p.H16N		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)																	---	---	---	---
FIBP	9158	broad.mit.edu	37	11	65651964	65651964	+	Intron	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65651964C>T	uc001ogd.2	-						FIBP_uc009yqu.2_Missense_Mutation_p.A294T|FIBP_uc001oge.2_Intron	NM_198897	NP_942600			FGF intracellular binding protein isoform a						fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)												OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	11	89486656	89486656	+	IGR	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89486656A>T								TRIM77 (35618 upstream) : TRIM49 (44168 downstream)																																			---	---	---	---
ATM	472	broad.mit.edu	37	11	108192027	108192027	+	Splice_Site	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108192027G>A	uc001pkb.1	+	45	6838	c.6453_splice	c.e45-1	p.R2151_splice	ATM_uc009yxr.1_Splice_Site_p.R2151_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R803_splice|ATM_uc001pkg.1_Splice_Site_p.R508_splice	NM_000051	NP_000042			ataxia telangiectasia mutated isoform 1						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6439826	6439826	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6439826G>A	uc001qnu.2	-	7	958	c.677C>T	c.(676-678)TCC>TTC	p.S226F	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.S118F|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.S118F|TNFRSF1A_uc009zek.2_Missense_Mutation_p.S183F	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	226	Helical; (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3																		---	---	---	---
TAS2R9	50835	broad.mit.edu	37	12	10962536	10962536	+	Missense_Mutation	SNP	T	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10962536T>C	uc001qyx.2	-	1	232	c.139A>G	c.(139-141)ATC>GTC	p.I47V	TAS2R8_uc010shh.1_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	47	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1																		---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15784459	15784459	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15784459A>T	uc009zif.2	-	18	2055	c.1961T>A	c.(1960-1962)ATA>AAA	p.I654K	EPS8_uc001rdb.2_Missense_Mutation_p.I654K|EPS8_uc009zig.2_Missense_Mutation_p.I394K|EPS8_uc010shv.1_Missense_Mutation_p.I394K	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	654					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)														---	---	---	---
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	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.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	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)			G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			---	---	---	---
SHMT2	6472	broad.mit.edu	37	12	57626616	57626616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57626616C>T	uc001snf.1	+	7	857	c.847C>T	c.(847-849)CGA>TGA	p.R283*	SHMT2_uc001sng.1_Nonsense_Mutation_p.R179*|SHMT2_uc001snh.1_Nonsense_Mutation_p.R122*|SHMT2_uc009zpk.1_Nonsense_Mutation_p.R273*|SHMT2_uc001sni.1_Nonsense_Mutation_p.R262*|SHMT2_uc010srg.1_Nonsense_Mutation_p.R292*|SHMT2_uc001snj.1_Nonsense_Mutation_p.R187*|SHMT2_uc010srh.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snk.1_Nonsense_Mutation_p.R187*|SHMT2_uc010sri.1_Nonsense_Mutation_p.R262*|SHMT2_uc001snl.2_Nonsense_Mutation_p.R187*|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	283						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94562997	94562997	+	Silent	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94562997A>T	uc001tdc.2	+	2	1380	c.1131A>T	c.(1129-1131)ACA>ACT	p.T377T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	377	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
ACACB	32	broad.mit.edu	37	12	109613985	109613985	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109613985A>T	uc001tob.2	+	9	1473	c.1354A>T	c.(1354-1356)ATG>TTG	p.M452L	ACACB_uc001toc.2_Missense_Mutation_p.M452L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	452	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---
KCTD10	83892	broad.mit.edu	37	12	109889615	109889615	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109889615C>T	uc001toi.1	-	7	815	c.727G>A	c.(727-729)GAG>AAG	p.E243K	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E217K|KCTD10_uc001toj.1_Missense_Mutation_p.E252K|KCTD10_uc001tok.1_Missense_Mutation_p.E62K	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	243	PCNA-binding (By similarity).				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0																		---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129694077	129694077	+	Silent	SNP	T	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129694077T>C	uc009zyl.1	-	5	1759	c.1431A>G	c.(1429-1431)GAA>GAG	p.E477E		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	477	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184802	130184802	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130184802C>T	uc009zyl.1	-	2	849	c.521G>A	c.(520-522)CGA>CAA	p.R174Q		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	174	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23910025	23910025	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23910025C>T	uc001uon.2	-	10	8579	c.7990G>A	c.(7990-7992)GGA>AGA	p.G2664R	SACS_uc001uoo.2_Missense_Mutation_p.G2517R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2664					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36700222	36700222	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36700222G>A	uc001uvf.2	-	2	286	c.53C>T	c.(52-54)GCG>GTG	p.A18V		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
KLF12	11278	broad.mit.edu	37	13	74419995	74419995	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:74419995C>T	uc001vjf.2	-	4	861	c.639G>A	c.(637-639)CCG>CCA	p.P213P	KLF12_uc010aeq.2_Silent_p.P213P|KLF12_uc001vjg.3_Silent_p.P213P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	213					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)														---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553604	19553604	+	Missense_Mutation	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19553604A>G	uc001vuz.1	+	1	240	c.188A>G	c.(187-189)AAG>AGG	p.K63R	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	63										ovary(1)	1																		---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356791	42356791	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42356791T>G	uc001wvm.2	+	3	2161	c.963T>G	c.(961-963)ATT>ATG	p.I321M	LRFN5_uc010ana.2_Missense_Mutation_p.I321M	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	321	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---
ATP6V1D	51382	broad.mit.edu	37	14	67815774	67815774	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67815774G>A	uc001xjf.2	-	4	463	c.287C>T	c.(286-288)GCG>GTG	p.A96V	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	96					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79432753	79432753	+	Intron	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79432753A>G	uc001xun.2	+						NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Intron	NM_004796	NP_004787			neurexin 3 isoform 1 precursor						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79746838	79746838	+	Intron	SNP	T	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79746838T>C	uc001xun.2	+						NRXN3_uc001xum.1_Intron|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.P68P|NRXN3_uc010asw.2_Silent_p.P68P|NRXN3_uc001xur.3_Silent_p.P68P	NM_004796	NP_004787			neurexin 3 isoform 1 precursor						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088964	86088964	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86088964T>G	uc001xvr.2	+	2	1873	c.1106T>G	c.(1105-1107)CTC>CGC	p.L369R	FLRT2_uc010atd.2_Missense_Mutation_p.L369R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	369	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103371927	103371927	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103371927C>T	uc001ymc.1	+	12	1866	c.1513C>T	c.(1513-1515)CGA>TGA	p.R505*	TRAF3_uc001yme.1_Nonsense_Mutation_p.R480*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.R505*|TRAF3_uc010txy.1_Nonsense_Mutation_p.R422*	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	505	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106622092	106622092	+	RNA	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106622092A>G	uc010tyt.1	-	1113		c.25554T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
POLG	5428	broad.mit.edu	37	15	89872248	89872248	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89872248G>A	uc002bns.3	-	4	1231	c.949C>T	c.(949-951)CAG>TAG	p.Q317*	POLG_uc002bnr.3_Nonsense_Mutation_p.Q317*	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	317					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)										DNA_polymerases_(catalytic_subunits)					---	---	---	---
TBL3	10607	broad.mit.edu	37	16	2028044	2028044	+	Missense_Mutation	SNP	G	A	A	rs149719588	by1000genomes	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2028044G>A	uc002cnu.1	+	19	2146	c.2044G>A	c.(2044-2046)GTG>ATG	p.V682M	TBL3_uc002cnv.1_Missense_Mutation_p.V568M|TBL3_uc010bsb.1_Intron|TBL3_uc010bsc.1_Missense_Mutation_p.V549M|TBL3_uc010uvt.1_Missense_Mutation_p.V151M|TBL3_uc002cnw.1_RNA	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	682					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0																		---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2048404	2048404	+	Missense_Mutation	SNP	G	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2048404G>C	uc002cof.1	-	14	2559	c.2544C>G	c.(2542-2544)AAC>AAG	p.N848K	ZNF598_uc002coe.1_Missense_Mutation_p.N212K	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	848						intracellular	zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
ABAT	18	broad.mit.edu	37	16	8866677	8866677	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8866677C>T	uc002czc.3	+	12	1023	c.857C>T	c.(856-858)ACG>ATG	p.T286M	ABAT_uc002czd.3_Missense_Mutation_p.T286M|ABAT_uc010buh.2_Missense_Mutation_p.T228M|ABAT_uc010bui.2_Missense_Mutation_p.T286M	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	286					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)													---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24816169	24816169	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24816169A>T	uc002dmm.2	+	13	4095	c.3981A>T	c.(3979-3981)AGA>AGT	p.R1327S	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1074S|TNRC6A_uc002dmn.2_Intron|TNRC6A_uc002dmo.2_Intron|TNRC6A_uc002dmp.2_Intron|TNRC6A_uc002dmq.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1327	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
PSKH1	5681	broad.mit.edu	37	16	67943097	67943097	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67943097C>T	uc002euv.2	+	2	615	c.445C>T	c.(445-447)CGG>TGG	p.R149W	PSKH1_uc010cet.2_Missense_Mutation_p.R149W	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	149	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)														---	---	---	---
PRDM7	11105	broad.mit.edu	37	16	90128325	90128325	+	Intron	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90128325T>G	uc010cje.2	-						PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Intron|PRDM7_uc010cjh.1_Intron	NM_001098173	NP_001091643			PR domain containing 7 isoform 1							chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)														---	---	---	---
ATXN7L3	56970	broad.mit.edu	37	17	42271971	42271971	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42271971C>A	uc002iga.2	-	11	900	c.809G>T	c.(808-810)AGC>ATC	p.S270I	ATXN7L3_uc010wiv.1_Missense_Mutation_p.S52I|ATXN7L3_uc002ifz.2_Missense_Mutation_p.S277I	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	270					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46233878	46233878	+	Intron	SNP	A	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46233878A>G	uc002ini.1	-						SKAP1_uc002inj.1_Intron|SKAP1_uc010dbd.1_Intron|SKAP1_uc010dbe.1_Intron|MIR1203_hsa-mir-1203|MI0006335_5'Flank	NM_003726	NP_003717			src kinase associated phosphoprotein 1 isoform						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5398077	5398077	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5398077C>T	uc002kmt.1	-	17	2501	c.2415G>A	c.(2413-2415)GCG>GCA	p.A805A	EPB41L3_uc010wzh.1_Silent_p.A636A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Silent_p.A110A|EPB41L3_uc010wzf.1_Silent_p.A102A|EPB41L3_uc010wzg.1_Silent_p.A77A|EPB41L3_uc010dkr.2_Silent_p.A197A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	805	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5424307	5424307	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5424307C>A	uc002kmt.1	-	10	1203	c.1117G>T	c.(1117-1119)GCC>TCC	p.A373S	EPB41L3_uc010wzh.1_Missense_Mutation_p.A373S|EPB41L3_uc002kmu.1_Missense_Mutation_p.A373S|EPB41L3_uc010dkq.1_Missense_Mutation_p.A264S|EPB41L3_uc010dkr.2_5'Flank	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	373	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31048083	31048083	+	3'UTR	SNP	C	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31048083C>G	uc002nsu.1	+	5					ZNF536_uc010edd.1_3'UTR|ZNF536_uc002nsv.2_RNA	NM_014717	NP_055532			zinc finger protein 536						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---
ZNF345	25850	broad.mit.edu	37	19	37367987	37367987	+	Silent	SNP	T	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37367987T>A	uc002oex.2	+	3	633	c.255T>A	c.(253-255)ACT>ACA	p.T85T	ZNF345_uc002oey.3_Silent_p.T85T|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	85					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37643342	37643342	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37643342T>G	uc002ofo.1	-	5	1690	c.1459A>C	c.(1459-1461)ACT>CCT	p.T487P	ZNF585A_uc002ofm.1_Missense_Mutation_p.T432P|ZNF585A_uc002ofn.1_Missense_Mutation_p.T432P	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	487	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
EGLN2	112398	broad.mit.edu	37	19	41313417	41313417	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41313417G>A	uc010ehd.2	+	11	2130	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	EGLN2_uc002opg.3_Missense_Mutation_p.A377T|EGLN2_uc002oph.2_Missense_Mutation_p.A377T|EGLN2_uc002opi.2_Missense_Mutation_p.A377T	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	377					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58596469	58596469	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58596469C>T	uc002qri.2	-	7	1425	c.1116G>A	c.(1114-1116)CCG>CCA	p.P372P	ZSCAN18_uc002qrj.3_Silent_p.P371P|ZSCAN18_uc010yhs.1_Silent_p.P236P|ZSCAN18_uc002qrh.2_Silent_p.P372P|ZSCAN18_uc010yht.1_Silent_p.P428P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	372					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---
GHRH	2691	broad.mit.edu	37	20	35884866	35884866	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35884866C>T	uc002xgr.2	-	2	119	c.119G>A	c.(118-120)AGC>AAC	p.S40N	GHRH_uc002xgs.2_Missense_Mutation_p.S40N|GHRH_uc002xgt.2_Missense_Mutation_p.S40N	NM_021081	NP_066567	P01286	SLIB_HUMAN	growth hormone releasing hormone preproprotein	40					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---
LOC96610	96610	broad.mit.edu	37	22	23029519	23029519	+	RNA	SNP	T	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23029519T>A	uc011aim.1	+	128		c.8158T>A								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45946460	45946460	+	Missense_Mutation	SNP	C	A	A	rs138534271	byFrequency	TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45946460C>A	uc003bgj.1	+	14	1809	c.1662C>A	c.(1660-1662)TTC>TTA	p.F554L	FBLN1_uc003bgg.1_Missense_Mutation_p.F554L|FBLN1_uc003bgh.2_Missense_Mutation_p.F554L|FBLN1_uc010gzz.2_Missense_Mutation_p.F592L|FBLN1_uc003bgi.1_Missense_Mutation_p.F554L	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	554	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811421	5811421	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811421C>T	uc010ndh.2	-	6	2389	c.1888G>A	c.(1888-1890)GCC>ACC	p.A630T	NLGN4X_uc004crp.2_Missense_Mutation_p.A650T|NLGN4X_uc004crq.2_Missense_Mutation_p.A630T|NLGN4X_uc010ndi.2_Missense_Mutation_p.A667T|NLGN4X_uc004crr.2_Missense_Mutation_p.A630T|NLGN4X_uc010ndj.2_Missense_Mutation_p.A630T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	630	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|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16870931	16870931	+	Missense_Mutation	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:16870931T>G	uc004cxt.2	-	7	1184	c.826A>C	c.(826-828)AAC>CAC	p.N276H	RBBP7_uc004cxs.1_Missense_Mutation_p.N320H|RBBP7_uc004cxu.2_Missense_Mutation_p.N267H|RBBP7_uc010nez.2_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	276	WD 5.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.N276S(1)		upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)																	---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54785304	54785304	+	Silent	SNP	C	T	T			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54785304C>T	uc004dtj.2	-	8	1233	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	401	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63556015	63556015	+	Intron	SNP	T	G	G			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63556015T>G	uc004dvs.2	-						MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Intron	NM_017677	NP_060147			myotubularin related protein 8							nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685736	125685736	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685736A>C	uc004eul.2	-	1	1107	c.856T>G	c.(856-858)TTC>GTC	p.F286V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	286	WD 3.									skin(3)|ovary(1)	4																		---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139865818	139865818	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139865818A>C	uc004fbg.1	-	1	906	c.714T>G	c.(712-714)ATT>ATG	p.I238M	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	238											0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)																---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153284492	153284492	+	Silent	SNP	G	A	A			TCGA-CD-5798-01A-11D-1600-08	TCGA-CD-5798-10A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153284492G>A	uc004fjs.1	-	4	553	c.474C>T	c.(472-474)CTC>CTT	p.L158L	IRAK1_uc004fjr.1_Silent_p.L158L|IRAK1_uc004fjt.1_Silent_p.L158L|IRAK1_uc010nur.2_Silent_p.L158L|IRAK1_uc004fju.2_Silent_p.L184L	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	158	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
