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
CROCC	9696	broad.mit.edu	37	1	17299014	17299014	+	3'UTR	DEL	A	-	-	rs6661019	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17299014delA	uc001azt.2	+	37					CROCC_uc001azu.2_3'UTR|CROCC_uc001azv.2_3'UTR	NM_014675	NP_055490			ciliary rootlet coiled-coil						cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68955440	68955440	+	Intron	DEL	C	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68955440delC	uc001dem.3	-						DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592			DEP domain containing 1 isoform a						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	234919829	234919833	+	IGR	DEL	AAAGA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234919829_234919833delAAAGA								IRF2BP2 (174558 upstream) : TOMM20 (352827 downstream)																																			---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236385071	236385072	+	Intron	INS	-	TTAATA	TTAATA	rs10647377		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236385071_236385072insTTAATA	uc001hxt.2	-							NM_019891	NP_063944			endoplasmic reticulum oxidoreductin 1-Lbeta						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	242995203	242995204	+	IGR	INS	-	GAAA	GAAA	rs10926878	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242995203_242995204insGAAA								PLD5 (307205 upstream) : CEP170 (292527 downstream)																																			---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44032037	44032038	+	Intron	INS	-	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44032037_44032038insA	uc002rtk.2	+						DYNC2LI1_uc002rtj.2_Intron|DYNC2LI1_uc002rtl.2_Intron|DYNC2LI1_uc010ynz.1_Intron	NM_016008	NP_057092			dynein 2 light intermediate chain isoform 1							apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120844683	120844684	+	Intron	INS	-	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120844683_120844684insT	uc002tmg.2	+						EPB41L5_uc010flk.2_Intron|EPB41L5_uc010fll.2_Intron|EPB41L5_uc002tmh.3_Intron|EPB41L5_uc010flm.2_Intron	NM_020909	NP_065960			erythrocyte membrane protein band 4.1 like 5							cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1																		---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128896089	128896089	+	Intron	DEL	A	-	-	rs112766490		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128896089delA	uc002tps.2	+						UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Intron	NM_020120	NP_064505			UDP-glucose ceramide glucosyltransferase-like 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	134405166	134405167	+	IGR	DEL	GA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:134405166_134405167delGA								NCKAP5 (79135 upstream) : MGAT5 (606663 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	139742577	139742578	+	IGR	INS	-	CCTC	CCTC	rs146767415	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139742577_139742578insCCTC								NXPH2 (204766 upstream) : None (None downstream)																																			---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159481186	159481187	+	Intron	INS	-	A	A	rs71974509		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159481186_159481187insA	uc002tzv.2	+						PKP4_uc002tzt.1_Intron|PKP4_uc002tzu.2_Intron|PKP4_uc002tzw.2_Intron|PKP4_uc002tzx.2_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Intron|PKP4_uc002uaa.2_Intron	NM_003628	NP_003619			plakophilin 4 isoform a						cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
Unknown	0	broad.mit.edu	37	2	186678572	186678576	+	RNA	DEL	AAAAA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186678572_186678576delAAAAA	uc002upm.2	+	2		c.3210_3214delAAAAA			uc010zfu.1_Frame_Shift_Del_p.K1208fs					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
BOLL	66037	broad.mit.edu	37	2	198643530	198643531	+	Intron	DEL	AC	-	-	rs140189200		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198643530_198643531delAC	uc002uus.2	-						BOLL_uc002uur.2_Intron|BOLL_uc002uut.2_Intron|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Intron	NM_033030	NP_149019			boule isoform 2						cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	234699319	234699319	+	IGR	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234699319delT								UGT1A10 (17370 upstream) : HJURP (46168 downstream)																																			---	---	---	---
USP4	7375	broad.mit.edu	37	3	49318010	49318012	+	Intron	DEL	AAG	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49318010_49318012delAAG	uc003cwq.2	-						USP4_uc003cwo.2_Intron|USP4_uc003cwp.2_Intron|USP4_uc003cwr.2_Intron	NM_003363	NP_003354			ubiquitin specific protease 4 isoform a						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)														---	---	---	---
FAM19A1	407738	broad.mit.edu	37	3	68587756	68587756	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:68587756delT	uc003dnd.2	+						FAM19A1_uc003dne.2_Intron|FAM19A1_uc003dng.2_Intron	NM_213609	NP_998774			family with sequence similarity 19 (chemokine							endoplasmic reticulum|extracellular region				ovary(1)	1		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)														---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108627203	108627203	+	Intron	DEL	C	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108627203delC	uc003dxj.2	-						GUCA1C_uc003dxk.2_Intron	NM_005459	NP_005450			guanylate cyclase activator 1C						signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0																		---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195538502	195538503	+	Intron	DEL	TC	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195538502_195538503delTC	uc011bto.1	-						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzv.2_Intron	NM_018406	NP_060876			mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56890992	56890992	+	Intron	DEL	T	-	-	rs113118558		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56890992delT	uc003hbi.2	+						CEP135_uc003hbj.2_Intron	NM_025009	NP_079285			centrosome protein 4						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
Unknown	0	broad.mit.edu	37	4	150268261	150268276	+	IGR	DEL	AGGGAGGGAGGAAGGA	-	-	rs35688715		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:150268261_150268276delAGGGAGGGAGGAAGGA								NR3C2 (904618 upstream) : DCLK2 (731804 downstream)																																			---	---	---	---
RNF175	285533	broad.mit.edu	37	4	154669734	154669735	+	Intron	INS	-	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154669734_154669735insA	uc003int.2	-						RNF175_uc003inu.1_Intron	NM_173662	NP_775933			ring finger protein 175							integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
Unknown	0	broad.mit.edu	37	4	168636935	168636936	+	IGR	INS	-	AAGG	AAGG			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:168636935_168636936insAAGG								SPOCK3 (481194 upstream) : ANXA10 (376771 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	143352922	143352923	+	IGR	INS	-	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:143352922_143352923insT								HMHB1 (152640 upstream) : YIPF5 (184808 downstream)																																			---	---	---	---
GLRA1	2741	broad.mit.edu	37	5	151228714	151228724	+	Intron	DEL	TTTTCTTTTCT	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151228714_151228724delTTTTCTTTTCT	uc003lut.2	-						GLRA1_uc003lur.2_Intron|GLRA1_uc003lus.2_Intron	NM_001146040	NP_001139512			glycine receptor, alpha 1 isoform 1 precursor						muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---
FAM153A	285596	broad.mit.edu	37	5	177167589	177167589	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177167589delT	uc010jkp.1	-						FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_Intron|FAM153A_uc003mic.2_Intron	NM_173663	NP_775934			hypothetical protein LOC285596											skin(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
Unknown	0	broad.mit.edu	37	6	4549420	4549423	+	IGR	DEL	AGGA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4549420_4549423delAGGA								PECI (413589 upstream) : CDYL (156970 downstream)																																			---	---	---	---
TFAP2A	7020	broad.mit.edu	37	6	10415409	10415411	+	5'UTR	DEL	GAG	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10415409_10415411delGAG	uc003myr.2	-	1					TFAP2A_uc003myq.2_5'Flank|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_5'UTR|TFAP2A_uc003myt.2_Intron|TFAP2A_uc003myu.1_5'UTR|TFAP2A_uc003myv.1_5'Flank|TFAP2A_uc011dii.1_Intron|uc003myw.2_Intron|uc003myx.2_Intron|uc003myy.1_Intron	NM_003220	NP_003211			transcription factor AP-2 alpha isoform a						ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)														OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47254339	47254339	+	Intron	DEL	A	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47254339delA	uc003oyv.2	-							NM_014452	NP_055267			tumor necrosis factor receptor superfamily,						cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)															---	---	---	---
KIAA0776	23376	broad.mit.edu	37	6	96970854	96970855	+	Intron	INS	-	T	T	rs150514381	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96970854_96970855insT	uc003por.2	+						KIAA0776_uc010kck.2_Intron	NM_015323	NP_056138			hypothetical protein LOC23376						negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)														---	---	---	---
AIM1	202	broad.mit.edu	37	6	106966842	106966843	+	Intron	DEL	AT	-	-	rs9486376	byFrequency	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106966842_106966843delAT	uc003prh.2	+							NM_001624	NP_001615			absent in melanoma 1								sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139135837	139135838	+	Intron	INS	-	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139135837_139135838insA	uc003qif.1	+						ECT2L_uc011edq.1_Intron	NM_001077706	NP_001071174			epithelial cell transforming sequence 2						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146592102	146592102	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146592102delT	uc010khw.1	+						GRM1_uc010khv.1_Intron|GRM1_uc003qll.2_Intron|GRM1_uc011edz.1_Intron|GRM1_uc011eea.1_Intron	NM_000838	NP_000829			glutamate receptor, metabotropic 1 isoform alpha						synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---
Unknown	0	broad.mit.edu	37	7	33792446	33792447	+	IGR	INS	-	CC	CC			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33792446_33792447insCC								BBS9 (146766 upstream) : BMPER (152665 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	68424782	68424782	+	IGR	DEL	A	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:68424782delA								None (None upstream) : AUTS2 (639123 downstream)																																			---	---	---	---
MOGAT3	346606	broad.mit.edu	37	7	100842282	100842283	+	Intron	DEL	TT	-	-	rs68152186		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100842282_100842283delTT	uc003uyc.2	-						MOGAT3_uc010lhr.2_Intron	NM_178176	NP_835470			monoacylglycerol O-acyltransferase 3						glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)																	---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150719078	150719079	+	Intron	INS	-	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150719078_150719079insT	uc011kvc.1	-						ATG9B_uc003wig.3_Intron	NM_173681	NP_775952			ATG9 autophagy related 9 homolog B						autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
UBXN8	7993	broad.mit.edu	37	8	30612473	30612474	+	Intron	INS	-	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30612473_30612474insT	uc003xii.2	+						UBXN8_uc010lvi.2_Intron|UBXN8_uc011lbb.1_Intron|UBXN8_uc003xij.2_Intron	NM_005671	NP_005662			reproduction 8						single fertilization						0																		---	---	---	---
FABP4	2167	broad.mit.edu	37	8	82393004	82393004	+	Intron	DEL	A	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82393004delA	uc003ycd.2	-							NM_001442	NP_001433			fatty acid binding protein 4, adipocyte						triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(1)	1			Epithelial(68;0.213)															---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102632112	102632112	+	Intron	DEL	T	-	-	rs35192018		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102632112delT	uc010mbu.2	+							NM_024915	NP_079191			transcription factor CP2-like 3							cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)															---	---	---	---
WDR67	93594	broad.mit.edu	37	8	124141116	124141116	+	Intron	DEL	A	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124141116delA	uc003ypp.1	+						WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Intron|WDR67_uc003ypq.1_Intron|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Intron|WDR67_uc003ypu.1_Intron	NM_145647	NP_663622			WD repeat domain 67 isoform 1							centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
DNAJA1	3301	broad.mit.edu	37	9	33027152	33027152	+	Intron	DEL	T	-	-	rs77003798		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33027152delT	uc003zsd.1	+						DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Intron|APTX_uc003zrz.2_5'Flank	NM_001539	NP_001530			DnaJ (Hsp40) homolog, subfamily A, member 1						protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)														---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790226	78790227	+	Intron	INS	-	AGAAC	AGAAC	rs45587131	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78790226_78790227insAGAAC	uc004ajz.2	+						PCSK5_uc004ajy.2_3'UTR|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																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	81965629	81965629	+	IGR	DEL	G	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:81965629delG								None (None upstream) : TLE4 (221249 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	90097458	90097469	+	IGR	DEL	AGGAAGGAAGGA	-	-	rs28433935		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90097458_90097469delAGGAAGGAAGGA								C9orf170 (322817 upstream) : DAPK1 (15189 downstream)																																			---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112704882	112704882	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112704882delT	uc004bei.2	+						PALM2_uc004bef.2_Intron|PALM2_uc004beg.2_Intron|PALM2_uc004beh.3_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034			A kinase (PRKA) anchor protein 2 isoform 2								enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	138016321	138016322	+	IGR	INS	-	AAA	AAA			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138016321_138016322insAAA								OLFM1 (3290 upstream) : KIAA0649 (355326 downstream)																																			---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481889	140481889	+	Intron	DEL	G	-	-	rs3215867		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140481889delG	uc004cno.1	-							NM_138462	NP_612471			zinc finger, MYND domain containing 19							Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)														---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7249383	7249386	+	Intron	DEL	GAAA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7249383_7249386delGAAA	uc009xio.1	-						SFMBT2_uc001ijn.1_Intron|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051			Scm-like with four mbt domains 2						regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27421036	27421036	+	Intron	DEL	T	-	-	rs113682414		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27421036delT	uc001iti.2	-						YME1L1_uc001itj.2_Intron|YME1L1_uc010qdl.1_Intron|YME1L1_uc009xkv.2_Intron	NM_139312	NP_647473			YME1-like 1 isoform 1						protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1																		---	---	---	---
ACSL5	51703	broad.mit.edu	37	10	114171218	114171218	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114171218delC	uc001kzs.2	+	10	942	c.801delC	c.(799-801)GACfs	p.D267fs	ACSL5_uc001kzt.2_Frame_Shift_Del_p.D267fs|ACSL5_uc001kzu.2_Frame_Shift_Del_p.D323fs|ACSL5_uc009xxz.2_Frame_Shift_Del_p.D267fs|ACSL5_uc010qrj.1_Frame_Shift_Del_p.D49fs	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	267	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)														---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117001239	117001239	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117001239delT	uc001lcg.2	+							NM_207303	NP_997186			attractin-like 1 precursor							integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)														---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72296159	72296160	+	Intron	DEL	TT	-	-	rs5792596		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72296159_72296160delTT	uc010rrc.1	-						PDE2A_uc001oso.2_Intron|PDE2A_uc010rra.1_Intron|PDE2A_uc001osn.2_Intron|PDE2A_uc010rrb.1_Intron|PDE2A_uc010rrd.1_Intron	NM_002599	NP_002590			phosphodiesterase 2A isoform 1						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76891308	76891309	+	Intron	INS	-	CTGCCAAATTATTTGG	CTGCCAAATTATTTGG	rs140333333	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76891308_76891309insCTGCCAAATTATTTGG	uc001oyb.2	+						MYO7A_uc010rsl.1_Intron|MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc001oyd.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251			myosin VIIA isoform 1						actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4																		---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28122645	28122647	+	5'UTR	DEL	TTC	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:28122645_28122647delTTC	uc001rik.2	-	1					PTHLH_uc001ril.2_Intron|PTHLH_uc001rim.2_5'UTR|PTHLH_uc001rin.2_Intron	NM_198966	NP_945317			parathyroid hormone-like hormone isoform 1						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)																	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	63962887	63962889	+	Intron	DEL	ATA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:63962887_63962889delATA	uc001srp.1	-						DPY19L2_uc010sso.1_Intron	NM_173812	NP_776173			dpy-19-like 2						multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)														---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50628508	50628514	+	Intron	DEL	TTTTTTT	-	-	rs36219580		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50628508_50628514delTTTTTTT	uc001wxs.3	-						SOS2_uc010tql.1_Intron|SOS2_uc010tqm.1_5'Flank|SOS2_uc001wxt.2_Intron	NM_006939	NP_008870			son of sevenless homolog 2						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)																	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79694131	79694138	+	Intron	DEL	TCCTCCCT	-	-	rs61995409		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79694131_79694138delTCCTCCCT	uc001xun.2	+						NRXN3_uc001xum.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)														---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24990188	24990188	+	Intron	DEL	A	-	-	rs71907404		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24990188delA	uc002dnb.2	-						ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Intron	NM_001006634	NP_001006635			nadrin isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)														---	---	---	---
BBS2	583	broad.mit.edu	37	16	56532618	56532619	+	Intron	INS	-	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56532618_56532619insA	uc002ejd.2	-						BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091			Bardet-Biedl syndrome 2 protein						adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
HSD11B2	3291	broad.mit.edu	37	16	67467625	67467632	+	Intron	DEL	ACACACAT	-	-	rs58877700		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67467625_67467632delACACACAT	uc002etd.2	+							NM_000196	NP_000187			hydroxysteroid (11-beta) dehydrogenase 2						glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)													---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87500638	87500638	+	Intron	DEL	A	-	-	rs11313581		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87500638delA	uc002fjz.1	-						ZCCHC14_uc002fka.1_Intron	NM_015144	NP_055959			zinc finger, CCHC domain containing 14						cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)														---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578475delG	uc002gim.2	-	5	649	c.455delC	c.(454-456)CCGfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37967488	37967489	+	Intron	INS	-	GAAAGAAAGAAA	GAAAGAAAGAAA	rs147416075	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37967488_37967489insGAAAGAAAGAAA	uc002hsu.2	-						IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Intron|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_Intron|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613			aiolos isoform 1						B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
KRT12	3859	broad.mit.edu	37	17	39020206	39020207	+	Intron	DEL	AC	-	-	rs67799294		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39020206_39020207delAC	uc002hvk.2	-							NM_000223	NP_000214			keratin 12						visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
Unknown	0	broad.mit.edu	37	17	39301367	39301378	+	IGR	DEL	CCTTCCTTCCTT	-	-	rs10567144		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39301367_39301378delCCTTCCTTCCTT								KRTAP4-12 (20948 upstream) : KRTAP4-5 (3800 downstream)																																			---	---	---	---
AATK	9625	broad.mit.edu	37	17	79115754	79115761	+	Intron	DEL	TTCCTTCC	-	-	rs72270675		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79115754_79115761delTTCCTTCC	uc010dia.2	-							NM_001080395	NP_001073864			apoptosis-associated tyrosine kinase							integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---
MPND	84954	broad.mit.edu	37	19	4348661	4348661	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4348661delT	uc002mae.2	+						MPND_uc010dtx.2_Intron|MPND_uc002mag.2_Intron|MPND_uc002maf.2_Intron|MPND_uc002mah.2_Intron|MPND_uc002mai.2_Intron	NM_032868	NP_116257			MPN domain containing isoform 1								peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	5798463	5798464	+	IGR	INS	-	TTCCTTCCTTCC	TTCCTTCCTTCC			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5798463_5798464insTTCCTTCCTTCC								DUS3L (7214 upstream) : NRTN (25354 downstream)																																			---	---	---	---
LPPR2	64748	broad.mit.edu	37	19	11472996	11472996	+	Intron	DEL	C	-	-	rs3833252		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11472996delC	uc002mre.1	+						LPPR2_uc002mrf.1_Intron|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574			lipid phosphate phosphatase-related protein type							integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1																		---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21927673	21927673	+	Intron	DEL	A	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21927673delA	uc002nqi.2	-						ZNF100_uc002nqh.2_Intron	NM_173531	NP_775802			zinc finger protein 100						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36862888	36862889	+	Intron	INS	-	GGAG	GGAG	rs139062759	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36862888_36862889insGGAG	uc010eex.1	-							NM_020917	NP_065968			zinc finger protein 14-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3298752	3298752	+	Intron	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3298752delT	uc002wii.2	-						C20orf194_uc002wij.3_Intron|C20orf194_uc002wik.2_Intron	NM_001009984	NP_001009984			hypothetical protein LOC25943												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	20	16755555	16755558	+	IGR	DEL	AAAG	-	-	rs56967030		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16755555_16755558delAAAG								OTOR (22747 upstream) : PCSK2 (451194 downstream)																																			---	---	---	---
APOL5	80831	broad.mit.edu	37	22	36113785	36113786	+	5'Flank	INS	-	AA	AA	rs71322979		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36113785_36113786insAA	uc003aof.2	+							NM_030642	NP_085145			apolipoprotein L5						lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	448557	448568	+	IGR	DEL	GGAAGGAAGGAA	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:448557_448568delGGAAGGAAGGAA								PPP2R3B (100930 upstream) : SHOX (136511 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	X	139124873	139124874	+	IGR	INS	-	AA	AA	rs57041377		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139124873_139124874insAA								CXorf66 (77196 upstream) : SOX3 (460278 downstream)																																			---	---	---	---
UBE2NL	389898	broad.mit.edu	37	X	142967261	142967261	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142967261delT	uc004fca.2	+	1	89	c.59delT	c.(58-60)GTTfs	p.V20fs		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	20							acid-amino acid ligase activity				0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26612350	26612350	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26612350G>A	uc001blw.2	-	10	1011	c.738C>T	c.(736-738)GAC>GAT	p.D246D	UBXN11_uc001blz.1_Silent_p.D213D|UBXN11_uc001blv.2_Silent_p.D208D|UBXN11_uc001bly.2_Silent_p.D126D|UBXN11_uc001blx.2_Silent_p.D4D|UBXN11_uc001bma.2_Silent_p.D213D|UBXN11_uc001bmb.1_Silent_p.D246D|UBXN11_uc010ofb.1_Silent_p.D171D|UBXN11_uc010ofc.1_Silent_p.D88D	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	246	SEP.					cytoplasm|cytoskeleton				ovary(1)	1																OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32138096	32138096	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32138096T>C	uc001btk.1	-	47	3391	c.3026A>G	c.(3025-3027)AAC>AGC	p.N1009S	COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.N822S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1009	Nonhelical region 3 (NC3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)														---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35824984	35824984	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35824984C>T	uc001byt.2	+	3	624	c.544C>T	c.(544-546)CGG>TGG	p.R182W	ZMYM4_uc009vuu.2_Missense_Mutation_p.R150W|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_Translation_Start_Site	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	182					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39800562	39800562	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39800562G>A	uc010oiu.1	+	1	3753	c.3622G>A	c.(3622-3624)GAT>AAT	p.D1208N	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2773					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66101927	66101927	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66101927T>C	uc001dci.2	+	20	2929	c.2727T>C	c.(2725-2727)GGT>GGC	p.G909G	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	909	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
LRRC40	55631	broad.mit.edu	37	1	70618204	70618204	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70618204C>A	uc001der.1	-	12	1403	c.1351G>T	c.(1351-1353)GTT>TTT	p.V451F		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	451	LRR 15.									ovary(1)	1																		---	---	---	---
ZRANB2	9406	broad.mit.edu	37	1	71536585	71536585	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:71536585C>T	uc001dft.2	-	7	675	c.608G>A	c.(607-609)CGC>CAC	p.R203H	ZRANB2_uc001dfs.2_Missense_Mutation_p.R203H	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	203	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75596421	75596421	+	Intron	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75596421A>C	uc001dgo.2	+						uc001dgp.1_RNA	NM_001001933	NP_001001933			LIM homeobox 8							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76378529	76378529	+	Missense_Mutation	SNP	A	T	T	rs138824189		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76378529A>T	uc001dhd.1	+	20	2809	c.2768A>T	c.(2767-2769)GAT>GTT	p.D923V		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	923					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5													MMR					---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76779494	76779494	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76779494A>C	uc001dhh.2	+	2	186	c.23A>C	c.(22-24)AAG>ACG	p.K8T	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.K8T|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	8	Cytoplasmic (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5																		---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78097749	78097749	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78097749C>G	uc001dhq.2	-	5	1767	c.1291G>C	c.(1291-1293)GGT>CGT	p.G431R	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.G431R|ZZZ3_uc001dhp.2_Missense_Mutation_p.G431R	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115527485	115527485	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115527485T>G	uc001efr.2	+	30	2908	c.2699T>G	c.(2698-2700)CTT>CGT	p.L900R	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.L900R|SYCP1_uc009wgw.2_Missense_Mutation_p.L875R	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	900					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
NGF	4803	broad.mit.edu	37	1	115829179	115829179	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115829179G>A	uc001efu.1	-	3	407	c.238C>T	c.(238-240)CGG>TGG	p.R80W		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	80					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)													---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767743	143767743	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:143767743A>C	uc001ejt.2	-	1	139	c.106T>G	c.(106-108)TTT>GTT	p.F36V		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	36	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279959	152279959	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152279959G>C	uc001ezu.1	-	3	7439	c.7403C>G	c.(7402-7404)TCA>TGA	p.S2468*		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2468	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154926160	154926160	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154926160A>C	uc001ffr.2	-	2	97	c.38T>G	c.(37-39)CTT>CGT	p.L13R	PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	13					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157668284	157668284	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157668284T>G	uc001frb.2	-	4	480	c.188A>C	c.(187-189)AAG>ACG	p.K63T	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.K63T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.K63T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	63	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158324300	158324300	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158324300T>C	uc001fse.2	+	2	431	c.192T>C	c.(190-192)ACT>ACC	p.T64T	CD1E_uc010pid.1_Silent_p.T62T|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.T64T|CD1E_uc001fsk.2_Silent_p.T64T|CD1E_uc001fsj.2_Silent_p.T64T|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.T64T|CD1E_uc001fry.2_Silent_p.T64T|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.T64T|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.T64T|CD1E_uc009wsw.2_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	64					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158627318	158627318	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158627318C>A	uc001fst.1	-	19	2953	c.2754G>T	c.(2752-2754)AAG>AAT	p.K918N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	918	Spectrin 10.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161133410	161133410	+	Splice_Site	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161133410G>C	uc010pke.1	+	8	1490	c.1113_splice	c.e8+2	p.V371_splice	USP21_uc010pkc.1_Splice_Site_p.D372_splice|USP21_uc010pkd.1_Splice_Site_p.D372_splice|USP21_uc010pkf.1_Splice_Site_p.V371_splice|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443			ubiquitin-specific protease 21						histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
C1orf156	92342	broad.mit.edu	37	1	169762587	169762587	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169762587T>G	uc001ggn.2	-	2	528	c.250A>C	c.(250-252)AGT>CGT	p.S84R	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	84						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171076927	171076927	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171076927G>C	uc001ghi.2	+	4	544	c.433G>C	c.(433-435)GTT>CTT	p.V145L	FMO3_uc001ghh.2_Missense_Mutation_p.V145L|FMO3_uc010pmb.1_Missense_Mutation_p.V125L|FMO3_uc010pmc.1_Missense_Mutation_p.V82L	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	145					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174418038	174418038	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174418038C>T	uc001gka.1	+	1	827	c.789C>T	c.(787-789)TAC>TAT	p.Y263Y	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	263	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
GLT25D2	23127	broad.mit.edu	37	1	183908121	183908121	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183908121G>T	uc001gqr.2	-	12	2027	c.1655C>A	c.(1654-1656)GCA>GAA	p.A552E	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.A160E|GLT25D2_uc001gqq.2_Missense_Mutation_p.A289E|GLT25D2_uc001gqs.2_Missense_Mutation_p.A432E	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	552					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2																		---	---	---	---
CFH	3075	broad.mit.edu	37	1	196642135	196642135	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196642135A>C	uc001gtj.3	+	2	326	c.86A>C	c.(85-87)AAT>ACT	p.N29T	CFH_uc001gti.3_Missense_Mutation_p.N29T|CFH_uc009wyw.2_Missense_Mutation_p.N29T|CFH_uc009wyx.2_Missense_Mutation_p.N29T	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	29	Sushi 1.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196884189	196884189	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196884189C>G	uc001gto.2	+	5	789	c.720C>G	c.(718-720)TGC>TGG	p.C240W	CFHR4_uc009wyy.2_Missense_Mutation_p.C486W|CFHR4_uc001gtp.2_Missense_Mutation_p.C487W	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	240	Sushi 4.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ATP6V1G3	127124	broad.mit.edu	37	1	198509695	198509695	+	Intron	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198509695T>C	uc001gup.2	-						ATP6V1G3_uc009wzd.2_Intron|ATP6V1G3_uc001guo.2_Intron	NM_133262	NP_573569			ATPase, H+ transporting, lysosomal, V1 subunit						cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)	1																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198678858	198678858	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198678858T>G	uc001gur.1	+	11	1250	c.1070T>G	c.(1069-1071)CTT>CGT	p.L357R	PTPRC_uc001gus.1_Missense_Mutation_p.L309R|PTPRC_uc001gut.1_Missense_Mutation_p.L196R|PTPRC_uc009wzf.1_Missense_Mutation_p.L245R|PTPRC_uc010ppg.1_Missense_Mutation_p.L293R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	357	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214819369	214819369	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214819369T>G	uc001hkm.2	+	13	6630	c.6456T>G	c.(6454-6456)CTT>CTG	p.L2152L		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2248	Potential.|2-1.|2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216420386	216420386	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216420386A>C	uc001hku.1	-	13	2737	c.2350T>G	c.(2350-2352)TTT>GTT	p.F784V	USH2A_uc001hkv.2_Missense_Mutation_p.F784V	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	784	Laminin EGF-like 5.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567787	229567787	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229567787G>A	uc001htm.2	-	5	867	c.762C>T	c.(760-762)AAC>AAT	p.N254N		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	254					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)													---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234528274	234528274	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234528274A>G	uc001hwd.2	-	29	4585	c.4585T>C	c.(4585-4587)TAT>CAT	p.Y1529H		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1529					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)															---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656630	240656630	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240656630A>T	uc001hys.2	-	2	426	c.146T>A	c.(145-147)ATC>AAC	p.I49N		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	49					BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)															---	---	---	---
TPO	7173	broad.mit.edu	37	2	1499798	1499798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1499798C>T	uc002qww.2	+	12	2135	c.2044C>T	c.(2044-2046)CAG>TAG	p.Q682*	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Nonsense_Mutation_p.Q625*|TPO_uc002qwr.2_Nonsense_Mutation_p.Q682*|TPO_uc002qwx.2_Nonsense_Mutation_p.Q625*|TPO_uc010yio.1_Nonsense_Mutation_p.Q509*|TPO_uc010yip.1_Nonsense_Mutation_p.Q682*|TPO_uc002qwy.1_Nonsense_Mutation_p.Q22*|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	682	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112836	18112836	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112836C>T	uc002rcv.2	+	3	1012	c.561C>T	c.(559-561)ATC>ATT	p.I187I	KCNS3_uc002rcw.2_Silent_p.I187I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	187	Helical; Name=Segment S1; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24439109	24439109	+	Intron	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24439109G>T	uc002rfe.2	-						ITSN2_uc002rff.2_Intron	NM_006277	NP_006268			intersectin 2 isoform 1						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33585711	33585711	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33585711T>C	uc002ros.2	+	27	4051	c.4051T>C	c.(4051-4053)TAC>CAC	p.Y1351H	LTBP1_uc002rot.2_Missense_Mutation_p.Y1025H|LTBP1_uc002rou.2_Missense_Mutation_p.Y1024H|LTBP1_uc002rov.2_Missense_Mutation_p.Y971H|LTBP1_uc010ymz.1_Missense_Mutation_p.Y982H|LTBP1_uc010yna.1_Missense_Mutation_p.Y929H|LTBP1_uc010ynb.1_Missense_Mutation_p.Y248H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1350	TB 3.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49244619	49244619	+	Intron	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49244619A>G	uc002rww.2	-						FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Intron|FSHR_uc010fbo.1_Intron	NM_000145	NP_000136			follicle stimulating hormone receptor isoform 1						female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---
HK2	3099	broad.mit.edu	37	2	75061723	75061723	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75061723C>T	uc002snd.2	+	1	1942	c.16C>T	c.(16-18)CTG>TTG	p.L6L		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	6	Hydrophobic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
RNF103	7844	broad.mit.edu	37	2	86839315	86839315	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86839315C>A	uc002srn.2	-	3	1418	c.449G>T	c.(448-450)CGT>CTT	p.R150L	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.R11L|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	150					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89278029	89278029	+	RNA	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89278029T>G	uc010ytr.1	-	88		c.7355A>C			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
GYPC	2995	broad.mit.edu	37	2	127453545	127453545	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:127453545G>A	uc002tnq.2	+	4	370	c.214G>A	c.(214-216)GTC>ATC	p.V72I	GYPC_uc002tnr.2_Missense_Mutation_p.V53I|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	72	Helical; Signal-anchor for type III membrane protein.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)														---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135199405	135199405	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135199405G>T	uc002ttv.1	+	15	2091	c.1946G>T	c.(1945-1947)TGC>TTC	p.C649F		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	649	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---
YSK4	80122	broad.mit.edu	37	2	135745059	135745059	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135745059G>A	uc002tue.1	-	7	1414	c.1383C>T	c.(1381-1383)AGC>AGT	p.S461S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.S348S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.S189S|YSK4_uc002tui.3_Silent_p.S478S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	461							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141122309	141122309	+	Silent	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141122309A>G	uc002tvj.1	-	72	12024	c.11052T>C	c.(11050-11052)TCT>TCC	p.S3684S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3684	Extracellular (Potential).|LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	142004791	142004791	+	Intron	SNP	T	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:142004791T>A	uc002tvj.1	-						LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027			low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---
NEB	4703	broad.mit.edu	37	2	152499752	152499752	+	Missense_Mutation	SNP	C	T	T	rs35555631	by1000genomes	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152499752C>T	uc010fnx.2	-	58	8263	c.8072G>A	c.(8071-8073)CGT>CAT	p.R2691H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2691	Nebulin 72.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160862151	160862151	+	Intron	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160862151C>A	uc002ube.1	-						PLA2R1_uc010zcp.1_Intron|PLA2R1_uc002ubf.2_Intron	NM_007366	NP_031392			phospholipase A2 receptor 1 isoform 1 precursor						endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3																		---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160901447	160901447	+	Missense_Mutation	SNP	C	T	T	rs139879340		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160901447C>T	uc002ube.1	-	2	538	c.331G>A	c.(331-333)GTT>ATT	p.V111I	PLA2R1_uc010zcp.1_Missense_Mutation_p.V111I|PLA2R1_uc002ubf.2_Missense_Mutation_p.V111I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	111	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3																		---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163253359	163253359	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163253359T>G	uc002uch.1	-	11	2716	c.2504A>C	c.(2503-2505)AAG>ACG	p.K835T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	835	Cytoplasmic (Potential).|cNMP.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167992437	167992437	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167992437A>C	uc002udx.2	+	2	445	c.427A>C	c.(427-429)AGT>CGT	p.S143R	XIRP2_uc010fpn.2_Missense_Mutation_p.S143R|XIRP2_uc010fpo.2_Missense_Mutation_p.S143R|XIRP2_uc010fpp.2_Missense_Mutation_p.S143R|XIRP2_uc002udy.2_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726351	168726351	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168726351G>T	uc002udz.1	+	2	1153	c.802G>T	c.(802-804)GTG>TTG	p.V268L		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	268	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175779816	175779816	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175779816C>T	uc002uji.2	-	5	760	c.230G>A	c.(229-231)CGG>CAG	p.R77Q	CHN1_uc010zeq.1_Missense_Mutation_p.R77Q|CHN1_uc002ujj.2_5'UTR	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	77	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
TTN	7273	broad.mit.edu	37	2	179478896	179478896	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179478896A>G	uc010zfg.1	-	211	41748	c.41524T>C	c.(41524-41526)TTC>CTC	p.F13842L	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.F7537L|TTN_uc010zfi.1_Missense_Mutation_p.F7470L|TTN_uc010zfj.1_Missense_Mutation_p.F7345L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14769							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)															---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212251753	212251753	+	Silent	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212251753A>G	uc002veg.1	-	27	3404	c.3306T>C	c.(3304-3306)TTT>TTC	p.F1102F	ERBB4_uc002veh.1_Silent_p.F1086F|ERBB4_uc010zji.1_Silent_p.F1092F|ERBB4_uc010zjj.1_Silent_p.F1076F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)											TSP Lung(8;0.080)			---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215301358	215301358	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215301358T>C	uc002vet.2	+	3	526	c.396T>C	c.(394-396)TCT>TCC	p.S132S	VWC2L_uc010zjl.1_Intron	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	132	VWFC 2.					extracellular region					0																		---	---	---	---
SP100	6672	broad.mit.edu	37	2	231313845	231313845	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231313845C>T	uc002vqt.2	+	6	707	c.566C>T	c.(565-567)TCG>TTG	p.S189L	SP100_uc002vqs.2_Missense_Mutation_p.S189L|SP100_uc002vqu.1_Missense_Mutation_p.S189L|SP100_uc010zmb.1_Missense_Mutation_p.S189L|SP100_uc002vqq.1_Missense_Mutation_p.S189L|SP100_uc002vqr.1_Missense_Mutation_p.S164L|SP100_uc010zmc.1_Missense_Mutation_p.S164L|SP100_uc002vqv.1_Missense_Mutation_p.S153L	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	189					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---
NR1D2	9975	broad.mit.edu	37	3	23996233	23996233	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23996233T>C	uc003ccs.2	+	2	541	c.222T>C	c.(220-222)TGT>TGC	p.C74C	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	74					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3																		---	---	---	---
SLC25A38	54977	broad.mit.edu	37	3	39433036	39433036	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39433036C>T	uc003cjo.2	+	4	782	c.381C>T	c.(379-381)GTC>GTT	p.V127V		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127	Solcar 2.|Helical; Name=3; (Potential).				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---
IP6K1	9807	broad.mit.edu	37	3	49764884	49764884	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49764884T>C	uc003cxm.1	-	6	1312	c.997A>G	c.(997-999)AGT>GGT	p.S333G	IP6K1_uc003cxn.1_Missense_Mutation_p.S168G|IP6K1_uc011bcv.1_Missense_Mutation_p.S168G|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	333					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0																		---	---	---	---
GNAT1	2779	broad.mit.edu	37	3	50231619	50231619	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50231619G>A	uc003cym.2	+	6	789	c.673G>A	c.(673-675)GCC>ACC	p.A225T	GNAT1_uc003cyl.2_Missense_Mutation_p.A225T	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	225					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)														---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51980232	51980232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51980232G>A	uc003dby.2	+	9	1520	c.1149G>A	c.(1147-1149)TGG>TGA	p.W383*	PARP3_uc003dbz.2_Nonsense_Mutation_p.W390*	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	383	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53777132	53777132	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53777132C>T	uc003dgv.3	+	22	3069	c.2906C>T	c.(2905-2907)TCA>TTA	p.S969L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S989L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S969L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S636L|CACNA1D_uc003dgx.1_Missense_Mutation_p.S117L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	969	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)													---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77600056	77600056	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:77600056C>T	uc003dpy.3	+	8	1790	c.1147C>T	c.(1147-1149)CGT>TGT	p.R383C	ROBO2_uc003dpz.2_Missense_Mutation_p.R387C|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R387C	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	383	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)														---	---	---	---
GBE1	2632	broad.mit.edu	37	3	81640313	81640313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:81640313G>A	uc003dqg.2	-	10	1394	c.1111C>T	c.(1111-1113)CAA>TAA	p.Q371*	GBE1_uc011bgm.1_Nonsense_Mutation_p.Q330*	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	371					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										Glycogen_Storage_Disease_type_IV				---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121126281	121126281	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121126281A>C	uc003eec.3	+	24	2991	c.2851A>C	c.(2851-2853)ATA>CTA	p.I951L	STXBP5L_uc011bji.1_Missense_Mutation_p.I927L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	951	WD 12.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5699368	5699368	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5699368G>A	uc003gij.2	-	2	289	c.235C>T	c.(235-237)CCC>TCC	p.P79S	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	79						integral to membrane				large_intestine(3)|ovary(2)	5																		---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96123915	96123915	+	Silent	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96123915G>T	uc003htp.1	-	12	2257	c.2103C>A	c.(2101-2103)GTC>GTA	p.V701V	UNC5C_uc010ilc.1_Silent_p.V720V	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	701	Cytoplasmic (Potential).|Interaction with DCC (By similarity).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---
AGXT2L1	64850	broad.mit.edu	37	4	109674150	109674150	+	Silent	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109674150A>C	uc003hzc.2	-	6	700	c.519T>G	c.(517-519)ACT>ACG	p.T173T	AGXT2L1_uc010imc.2_Silent_p.T167T|AGXT2L1_uc011cfm.1_Silent_p.T133T|AGXT2L1_uc011cfn.1_Silent_p.T100T|AGXT2L1_uc011cfo.1_Silent_p.T115T	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	173					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)														---	---	---	---
FGF2	2247	broad.mit.edu	37	4	123813510	123813510	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123813510C>A	uc003iev.1	+	3	894	c.826C>A	c.(826-828)CAG>AAG	p.Q276K		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	276	Heparin-binding (By similarity).				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)													---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126370110	126370110	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126370110C>T	uc003ifj.3	+	9	7939	c.7939C>T	c.(7939-7941)CCT>TCT	p.P2647S	FAT4_uc011cgp.1_Missense_Mutation_p.P945S|FAT4_uc003ifi.1_Missense_Mutation_p.P125S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2647	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072011	134072011	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134072011G>A	uc003iha.2	+	1	1542	c.716G>A	c.(715-717)CGA>CAA	p.R239Q	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R239Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---
RNF175	285533	broad.mit.edu	37	4	154644505	154644505	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154644505G>T	uc003int.2	-	5	880	c.507C>A	c.(505-507)TTC>TTA	p.F169L	RNF175_uc003inu.1_Missense_Mutation_p.F41L	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	169	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
SFRP2	6423	broad.mit.edu	37	4	154702901	154702901	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154702901T>G	uc003inv.1	-	3	831	c.590A>C	c.(589-591)AAA>ACA	p.K197T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	197	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)																---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156651353	156651353	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156651353T>G	uc003iov.2	+	11	2579	c.2043T>G	c.(2041-2043)AAT>AAG	p.N681K	GUCY1A3_uc003iow.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.N680K|GUCY1A3_uc003iox.2_Missense_Mutation_p.N681K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.N681K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.N446K|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.N681K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	681				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7866882	7866882	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7866882G>T	uc003jeb.2	-	2	1452	c.1315C>A	c.(1315-1317)CAT>AAT	p.H439N	FASTKD3_uc011cmp.1_Missense_Mutation_p.H141N|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	439					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9066715	9066715	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9066715T>G	uc003jek.2	-	17	2829	c.2117A>C	c.(2116-2118)AAG>ACG	p.K706T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	706	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11364954	11364954	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11364954T>C	uc003jfa.1	-	8	1371	c.1226A>G	c.(1225-1227)GAG>GGG	p.E409G	CTNND2_uc010itt.2_Missense_Mutation_p.E318G|CTNND2_uc011cmy.1_Missense_Mutation_p.E72G|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	409	ARM 1.				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																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16676142	16676142	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16676142T>C	uc003jft.3	-	34	5132	c.4664A>G	c.(4663-4665)AAC>AGC	p.N1555S	MYO10_uc011cnb.1_Missense_Mutation_p.N184S|MYO10_uc011cnc.1_Missense_Mutation_p.N434S|MYO10_uc011cnd.1_Missense_Mutation_p.N912S|MYO10_uc011cne.1_Missense_Mutation_p.N912S|MYO10_uc010itx.2_Missense_Mutation_p.N1177S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1555	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747287	19747287	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19747287C>T	uc003jgc.2	-	3	664	c.287G>A	c.(286-288)GGT>GAT	p.G96D	CDH18_uc003jgd.2_Missense_Mutation_p.G96D|CDH18_uc011cnm.1_Missense_Mutation_p.G96D	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	96	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21783540	21783540	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21783540G>A	uc010iuc.2	-	8	1778	c.1320C>T	c.(1318-1320)ACC>ACT	p.T440T	CDH12_uc011cno.1_Silent_p.T400T|CDH12_uc003jgk.2_Silent_p.T440T	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	440	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937978	33937978	+	Missense_Mutation	SNP	C	T	T	rs143656786		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33937978C>T	uc003jic.1	+	1	1490	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	378	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37364386	37364386	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37364386T>C	uc003jku.1	-	2	376	c.258A>G	c.(256-258)AGA>AGG	p.R86R	NUP155_uc003jkt.1_Silent_p.R27R|NUP155_uc010iuz.1_Silent_p.R86R	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	86					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38352290	38352290	+	Intron	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38352290C>A	uc003jlc.1	+						EGFLAM_uc003jlb.1_Intron	NM_152403	NP_689616			EGF-like, fibronectin type III and laminin G							cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41061700	41061700	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41061700T>G	uc003jmj.3	-	6	1077	c.587A>C	c.(586-588)AAG>ACG	p.K196T		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	196							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41803250	41803250	+	Missense_Mutation	SNP	C	G	G	rs121909301		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41803250C>G	uc003jmn.2	-	10	1302	c.971G>C	c.(970-972)GGA>GCA	p.G324A		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94248669	94248669	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94248669T>G	uc003kkx.2	-	9	1363	c.1363A>C	c.(1363-1365)AGT>CGT	p.S455R	MCTP1_uc003kkv.2_Missense_Mutation_p.S234R|MCTP1_uc003kkw.2_Missense_Mutation_p.S188R|MCTP1_uc003kkz.2_Missense_Mutation_p.S116R|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	455					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98128977	98128977	+	Silent	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98128977C>A	uc003knc.2	+	5	1359	c.957C>A	c.(955-957)ACC>ACA	p.T319T		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	278					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)														---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102465386	102465386	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102465386C>G	uc003kod.3	+	2	612	c.93C>G	c.(91-93)GAC>GAG	p.D31E	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.D31E|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	31					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2																		---	---	---	---
GRXCR2	643226	broad.mit.edu	37	5	145246082	145246082	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145246082G>A	uc003lns.1	-	2	546	c.546C>T	c.(544-546)CCC>CCT	p.P182P		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	182											0																		---	---	---	---
DSP	1832	broad.mit.edu	37	6	7585299	7585299	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7585299T>G	uc003mxp.1	+	24	8083	c.7804T>G	c.(7804-7806)TTA>GTA	p.L2602V	DSP_uc003mxq.1_Missense_Mutation_p.L2003V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2602	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)														---	---	---	---
TXNDC5	81567	broad.mit.edu	37	6	7884583	7884583	+	Intron	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7884583A>T	uc003mxv.2	-						TXNDC5_uc003mxw.2_Intron|TXNDC5_uc010jnz.2_Intron	NM_030810	NP_110437			thioredoxin domain containing 5 isoform 1						anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)																	---	---	---	---
C6orf114	85411	broad.mit.edu	37	6	13470336	13470336	+	Silent	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13470336A>C	uc003nav.2	-	2	700	c.177T>G	c.(175-177)GGT>GGG	p.G59G	GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA	NM_033069	NP_149060			hypothetical protein LOC85411												0	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)															---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292294	17292294	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17292294G>A	uc003nbz.3	+	4	659	c.655G>A	c.(655-657)GCT>ACT	p.A219T	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A161T|RBM24_uc003nca.2_Missense_Mutation_p.A174T|RBM24_uc011diy.1_Silent_p.P132P|RBM24_uc011diz.1_Silent_p.P117P	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	219	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)															---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039587	55039587	+	Missense_Mutation	SNP	G	A	A	rs75924257		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55039587G>A	uc003pcl.2	+	1	517	c.202G>A	c.(202-204)GCT>ACT	p.A68T	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	68	Helical; Name=1; (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---
TPBG	7162	broad.mit.edu	37	6	83074910	83074910	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83074910G>T	uc003pjn.3	+	3	1168	c.232G>T	c.(232-234)GTT>TTT	p.V78F	TPBG_uc010kbj.2_Missense_Mutation_p.V78F|TPBG_uc003pjo.2_Missense_Mutation_p.V78F	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	78	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97621109	97621109	+	Intron	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97621109A>T	uc003ppb.2	-						C6orf167_uc011eaf.1_Intron	NM_198468	NP_940870			hypothetical protein LOC253714						double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100062499	100062499	+	Missense_Mutation	SNP	G	A	A	rs113976133		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100062499G>A	uc003pqg.1	+	4	2249	c.1988G>A	c.(1987-1989)GGC>GAC	p.G663D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)														---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671628	112671628	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112671628C>G	uc003pvx.1	+	3	1030	c.718C>G	c.(718-720)CTT>GTT	p.L240V		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	240	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)														---	---	---	---
NUP43	348995	broad.mit.edu	37	6	150048162	150048162	+	Nonsense_Mutation	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150048162A>T	uc003qmz.2	-	8	1143	c.1086T>A	c.(1084-1086)TGT>TGA	p.C362*	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Nonsense_Mutation_p.C266*	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	362					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)														---	---	---	---
ULBP1	80329	broad.mit.edu	37	6	150290326	150290326	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150290326A>G	uc003qnp.2	+	3	498	c.455A>G	c.(454-456)GAC>GGC	p.D152G		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1 precursor	152	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			pancreas(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152746668	152746668	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152746668T>G	uc010kiw.2	-	39	5717	c.5115A>C	c.(5113-5115)GAA>GAC	p.E1705D	SYNE1_uc003qot.3_Missense_Mutation_p.E1712D|SYNE1_uc003qou.3_Missense_Mutation_p.E1705D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1688D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1705	Spectrin 2.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152861159	152861159	+	Intron	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152861159A>G	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715428	165715428	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715428A>G	uc003qum.3	-	2	419	c.383T>C	c.(382-384)CTG>CCG	p.L128P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	128											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)														---	---	---	---
FAM183B	340286	broad.mit.edu	37	7	38725592	38725592	+	Silent	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38725592G>T	uc011kbd.1	-	2	1001	c.705C>A	c.(703-705)CCC>CCA	p.P235P		NR_028347				Homo sapiens cDNA FLJ42138 fis, clone TESTI2036684.												0																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47970692	47970692	+	Intron	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47970692T>C	uc003tny.1	-							NM_138295	NP_612152			polycystin-1L1						cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48467357	48467357	+	Intron	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48467357C>T	uc003toq.2	+						ABCA13_uc010kys.1_Intron|ABCA13_uc010kyt.1_Intron	NM_152701	NP_689914			ATP binding cassette, sub-family A (ABC1),						transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ZNF713	349075	broad.mit.edu	37	7	56007364	56007364	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56007364C>G	uc003trc.1	+	4	996	c.958C>G	c.(958-960)CTG>GTG	p.L320V	ZNF713_uc003tra.1_Missense_Mutation_p.L333V|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	320	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
SUMF2	25870	broad.mit.edu	37	7	56132002	56132002	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56132002C>T	uc003trv.2	+	1	86	c.55C>T	c.(55-57)CTG>TTG	p.L19L	PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Silent_p.L19L|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.L19L|SUMF2_uc011kcx.1_Silent_p.L19L|SUMF2_uc003trt.2_5'UTR|SUMF2_uc011kcy.1_Silent_p.L19L|SUMF2_uc011kcz.1_Silent_p.L19L|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2 isoform e	Error:Variant_position_missing_in_Q8NBJ7_after_alignment						endoplasmic reticulum lumen	metal ion binding			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64378004	64378004	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64378004G>T	uc003tto.2	+	2	224	c.148G>T	c.(148-150)GAG>TAG	p.E50*	ZNF273_uc003ttl.2_5'UTR|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_RNA	NM_021148	NP_066971	Q14593	ZN273_HUMAN	zinc finger protein 273	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
SRRM3	222183	broad.mit.edu	37	7	75889227	75889227	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75889227G>A	uc010ldi.2	+	4	548	c.339G>A	c.(337-339)GTG>GTA	p.V113V		NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0																		---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82585678	82585678	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82585678T>G	uc003uhx.2	-	5	4880	c.4591A>C	c.(4591-4593)ACT>CCT	p.T1531P	PCLO_uc003uhv.2_Missense_Mutation_p.T1531P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1462					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83591046	83591046	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83591046C>T	uc003uhz.2	-	17	2272	c.1957G>A	c.(1957-1959)GAA>AAA	p.E653K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	653	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	96251928	96251928	+	RNA	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96251928C>A	uc010lfm.1	-	5		c.618G>T								Homo sapiens cDNA, FLJ17342.																														---	---	---	---
C7orf58	79974	broad.mit.edu	37	7	120907303	120907303	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:120907303A>C	uc003vjq.3	+	21	3115	c.2668A>C	c.(2668-2670)ACT>CCT	p.T890P		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	890						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)																	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123264689	123264689	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123264689C>A	uc003vku.1	+	8	810	c.518C>A	c.(517-519)CCC>CAC	p.P173H	ASB15_uc003vkv.1_Missense_Mutation_p.P173H|ASB15_uc003vkw.1_Missense_Mutation_p.P173H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	173	ANK 2.				intracellular signal transduction					skin(2)|lung(1)	3																OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142565356	142565356	+	Intron	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142565356C>T	uc011kst.1	+						EPHB6_uc011ksu.1_Intron|EPHB6_uc003wbs.2_Intron|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_Intron|EPHB6_uc003wbv.2_5'UTR	NM_004445	NP_004436			ephrin receptor EphB6 precursor							extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)																	---	---	---	---
ATG9B	285973	broad.mit.edu	37	7	150718411	150718411	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150718411C>T	uc011kvc.1	-	5	903	c.827G>A	c.(826-828)CGC>CAC	p.R276H	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	276	Lumenal (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151970896	151970896	+	Silent	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151970896A>G	uc003wla.2	-	7	1125	c.906T>C	c.(904-906)TGT>TGC	p.C302C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	302					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13356670	13356670	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13356670T>G	uc003wwm.2	-	2	1355	c.911A>C	c.(910-912)AAC>ACC	p.N304T	DLC1_uc003wwn.2_Missense_Mutation_p.N304T|DLC1_uc011kxy.1_Missense_Mutation_p.N304T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	304					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30407071	30407071	+	Intron	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30407071G>C	uc003xic.1	+						RBPMS_uc003xid.1_Missense_Mutation_p.D195H|RBPMS_uc003xie.1_Intron|RBPMS_uc003xif.1_Intron	NM_006867	NP_006858			RNA-binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)														---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38139039	38139039	+	Silent	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38139039G>T	uc003xli.2	-	20	4082	c.3564C>A	c.(3562-3564)ATC>ATA	p.I1188I	WHSC1L1_uc011lbm.1_Silent_p.I1188I|WHSC1L1_uc010lwe.2_Silent_p.I1139I|WHSC1L1_uc003xlh.2_5'Flank	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1188	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540434	55540434	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55540434A>T	uc003xsd.1	+	4	4140	c.3992A>T	c.(3991-3993)GAG>GTG	p.E1331V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1331					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72971670	72971670	+	Silent	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72971670A>T	uc003xza.2	-	8	1123	c.948T>A	c.(946-948)GCT>GCA	p.A316A		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	316	ANK 8.|Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91963378	91963378	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91963378A>C	uc011lgg.1	+	12	1170	c.976A>C	c.(976-978)AGT>CGT	p.S326R	NECAB1_uc003yer.2_Missense_Mutation_p.S75R	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	326					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)															---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105263313	105263313	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105263313A>C	uc003yls.2	+	27	4048	c.3807A>C	c.(3805-3807)AAA>AAC	p.K1269N	RIMS2_uc003ylp.2_Missense_Mutation_p.K1251N|RIMS2_uc003ylw.2_Missense_Mutation_p.K1258N|RIMS2_uc003ylq.2_Missense_Mutation_p.K1065N|RIMS2_uc003ylr.2_Missense_Mutation_p.K1090N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1313	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256673	113256673	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256673C>A	uc003ynu.2	-	65	10511	c.10352G>T	c.(10351-10353)AGA>ATA	p.R3451I	CSMD3_uc003yns.2_Missense_Mutation_p.R2653I|CSMD3_uc003ynt.2_Missense_Mutation_p.R3411I|CSMD3_uc011lhx.1_Missense_Mutation_p.R3282I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3451	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256738	113256738	+	Silent	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113256738A>G	uc003ynu.2	-	65	10446	c.10287T>C	c.(10285-10287)TCT>TCC	p.S3429S	CSMD3_uc003yns.2_Silent_p.S2631S|CSMD3_uc003ynt.2_Silent_p.S3389S|CSMD3_uc011lhx.1_Silent_p.S3260S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3429	Extracellular (Potential).|Sushi 28.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631435	116631435	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116631435C>T	uc003ynz.2	-	2	1310	c.851G>A	c.(850-852)CGT>CAT	p.R284H	TRPS1_uc011lhy.1_Missense_Mutation_p.R288H|TRPS1_uc003yny.2_Missense_Mutation_p.R297H|TRPS1_uc010mcy.2_Missense_Mutation_p.R284H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	284					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R284P(1)		ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120814048	120814048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120814048G>A	uc003you.2	-	6	1048	c.778C>T	c.(778-780)CCA>TCA	p.P260S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	260					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
BAI1	575	broad.mit.edu	37	8	143562905	143562905	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143562905C>T	uc003ywm.2	+	10	2146	c.1963C>T	c.(1963-1965)CGA>TGA	p.R655*		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	655	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145806488	145806488	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145806488G>C	uc003zdt.1	-	4	809	c.254C>G	c.(253-255)GCC>GGC	p.A85G	ARHGAP39_uc011llk.1_Missense_Mutation_p.A85G|ARHGAP39_uc003zds.1_Missense_Mutation_p.A85G	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	85	WW 2.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0																		---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436586	16436586	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16436586G>A	uc003zml.2	-	6	1746	c.1606C>T	c.(1606-1608)CGA>TGA	p.R536*	BNC2_uc011lmw.1_Nonsense_Mutation_p.R441*|BNC2_uc003zmm.2_Nonsense_Mutation_p.R494*|BNC2_uc003zmq.1_Nonsense_Mutation_p.R550*|BNC2_uc003zmr.1_Nonsense_Mutation_p.R573*|BNC2_uc003zmp.1_Nonsense_Mutation_p.R564*|BNC2_uc010mij.1_Nonsense_Mutation_p.R458*|BNC2_uc011lmv.1_Nonsense_Mutation_p.R362*|BNC2_uc003zmo.1_Nonsense_Mutation_p.R458*|BNC2_uc003zmj.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Nonsense_Mutation_p.R301*|BNC2_uc003zmn.1_Nonsense_Mutation_p.R301*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	536	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39178353	39178353	+	Silent	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39178353A>C	uc004abi.2	-	5	782	c.543T>G	c.(541-543)TCT>TCG	p.S181S	CNTNAP3_uc004abj.2_Silent_p.S181S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S181S|CNTNAP3_uc011lqs.1_Silent_p.S181S|CNTNAP3_uc004abl.1_Silent_p.S93S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	181	Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---
PRKACG	5568	broad.mit.edu	37	9	71628451	71628451	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71628451G>A	uc004agy.2	-	1	589	c.558C>T	c.(556-558)TTC>TTT	p.F186F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	186	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82322115	82322115	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82322115T>G	uc004ald.2	+	12	1842	c.993T>G	c.(991-993)TTT>TTG	p.F331L	TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101787152	101787152	+	Intron	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101787152T>G	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)																---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289029	107289029	+	Silent	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107289029G>T	uc011lvn.1	-	1	462	c.462C>A	c.(460-462)ATC>ATA	p.I154I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918660	112918660	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112918660T>G	uc004bej.3	+	9	3237	c.3057T>G	c.(3055-3057)CCT>CCG	p.P1019P	PALM2-AKAP2_uc004bek.3_Silent_p.P1019P|AKAP2_uc011lwi.1_Silent_p.P877P|AKAP2_uc004bem.2_Silent_p.P877P|AKAP2_uc011lwj.1_Silent_p.P788P|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	788							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
ALAD	210	broad.mit.edu	37	9	116151291	116151291	+	Silent	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116151291G>C	uc011lxf.1	-	11	1099	c.897C>G	c.(895-897)GCC>GCG	p.A299A	ALAD_uc011lxe.1_Silent_p.A282A|ALAD_uc004bhl.3_Silent_p.A328A	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	299					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)													---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118989747	118989747	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:118989747A>G	uc004bjn.2	+	6	2530	c.2149A>G	c.(2149-2151)AGA>GGA	p.R717G	PAPPA_uc011lxp.1_Missense_Mutation_p.R412G|PAPPA_uc011lxq.1_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	717					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9																		---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475916	120475916	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120475916T>C	uc004bjz.2	+	3	1801	c.1510T>C	c.(1510-1512)TCT>CCT	p.S504P	TLR4_uc004bka.2_Missense_Mutation_p.S464P|TLR4_uc004bkb.2_Missense_Mutation_p.S304P	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	504	LRR 16.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---
DNM1	1759	broad.mit.edu	37	9	130982368	130982368	+	Intron	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130982368A>G	uc011mau.1	+						DNM1_uc010mxr.2_Intron|DNM1_uc011mat.1_Intron	NM_004408	NP_004399			dynamin 1 isoform 1						receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			ovary(2)	2																		---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131367582	131367582	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131367582C>T	uc004bvl.3	+	31	3985	c.3872C>T	c.(3871-3873)TCC>TTC	p.S1291F	SPTAN1_uc004bvm.3_Missense_Mutation_p.S1291F|SPTAN1_uc004bvn.3_Missense_Mutation_p.S1271F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1291	Spectrin 14.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10																		---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131857713	131857713	+	Missense_Mutation	SNP	C	T	T	rs149016840		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131857713C>T	uc004bxh.2	-	14	2126	c.1844G>A	c.(1843-1845)CGT>CAT	p.R615H	CRAT_uc004bxg.2_Missense_Mutation_p.R594H|CRAT_uc004bxk.3_Missense_Mutation_p.R594H	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	615					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)													---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134465308	134465308	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134465308C>T	uc004cbc.2	-	16	2404	c.2274G>A	c.(2272-2274)ACG>ACA	p.T758T	RAPGEF1_uc004cbb.2_Silent_p.T776T	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	758	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137666757	137666757	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137666757A>G	uc004cfe.2	+	27	2766	c.2384A>G	c.(2383-2385)AAG>AGG	p.K795R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	795	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)														---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21104607	21104607	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21104607T>G	uc001iqi.2	-	22	2585	c.2188A>C	c.(2188-2190)AGT>CGT	p.S730R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	730	Nebulin 21.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2																		---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28151563	28151563	+	Intron	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28151563T>C	uc009xky.2	-						ARMC4_uc010qds.1_Intron|ARMC4_uc010qdt.1_Intron|ARMC4_uc001itz.2_Intron	NM_018076	NP_060546			armadillo repeat containing 4								binding			ovary(4)|skin(2)	6																		---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35928888	35928888	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35928888G>A	uc001iyz.1	-	1	1475	c.1470C>T	c.(1468-1470)GTC>GTT	p.V490V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	490	Helical; Name=5; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0																		---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37482012	37482012	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37482012T>G	uc001iza.1	+	26	2464	c.2365T>G	c.(2365-2367)TTT>GTT	p.F789V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	845						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55626456	55626456	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55626456T>G	uc001jju.1	-	27	4058	c.3663A>C	c.(3661-3663)CAA>CAC	p.Q1221H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1233H|PCDH15_uc010qht.1_Missense_Mutation_p.Q1228H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1221H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1184H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1150H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1226H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1221H|PCDH15_uc010qia.1_Missense_Mutation_p.Q1199H|PCDH15_uc010qib.1_Missense_Mutation_p.Q1199H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1221	Cadherin 11.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852409	63852409	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63852409G>A	uc001jlt.1	+	10	3213	c.3187G>A	c.(3187-3189)GGG>AGG	p.G1063R		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1063					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)																	---	---	---	---
SLC25A16	8034	broad.mit.edu	37	10	70248271	70248271	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70248271T>G	uc001joi.2	-	7	1178	c.726A>C	c.(724-726)GTA>GTC	p.V242V	SLC25A16_uc010qix.1_Silent_p.V108V|SLC25A16_uc010qiy.1_Silent_p.V144V|SLC25A16_uc001joj.2_Silent_p.V144V	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	242	Solcar 3.				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0																		---	---	---	---
ACTA2	59	broad.mit.edu	37	10	90708675	90708675	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90708675C>G	uc001kfp.2	-	2	129	c.13G>C	c.(13-15)GAG>CAG	p.E5Q	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.E5Q|ACTA2_uc010qmz.1_Missense_Mutation_p.E5Q	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	5					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)														---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93683822	93683822	+	5'UTR	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93683822C>T	uc001khr.2	+	1					BTAF1_uc009xua.1_RNA	NM_003972	NP_003963			BTAF1 RNA polymerase II, B-TFIID transcription						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)																---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120810145	120810145	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120810145C>G	uc001ldu.2	-	16	2507	c.2361G>C	c.(2359-2361)AGG>AGC	p.R787S	EIF3A_uc010qsu.1_Missense_Mutation_p.R753S|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	787	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)														---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967855	4967855	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4967855A>C	uc010qys.1	-	1	476	c.476T>G	c.(475-477)CTT>CGT	p.L159R		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153446	5153446	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5153446A>C	uc010qyx.1	-	1	427	c.427T>G	c.(427-429)TTA>GTA	p.L143V		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5289717	5289717	+	Silent	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5289717C>G	uc001mal.1	-	3	679	c.426G>C	c.(424-426)CTG>CTC	p.L142L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L142L	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	142					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905963	5905963	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905963T>G	uc010qzs.1	+	1	441	c.441T>G	c.(439-441)GCT>GCG	p.A147A	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6942315	6942315	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6942315T>G	uc010rav.1	+	1	83	c.83T>G	c.(82-84)TTT>TGT	p.F28C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	28	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
OR2D3	120775	broad.mit.edu	37	11	6942465	6942465	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6942465T>G	uc010rav.1	+	1	233	c.233T>G	c.(232-234)TTT>TGT	p.F78C		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20949921	20949921	+	Splice_Site	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20949921A>G	uc001mqe.2	+	9	1048	c.895_splice	c.e9-2	p.S299_splice	NELL1_uc001mqf.2_Splice_Site_p.S299_splice|NELL1_uc009yid.2_Splice_Site_p.S327_splice|NELL1_uc010rdo.1_Splice_Site_p.S242_splice|NELL1_uc010rdp.1_Splice_Site_p.S59_splice	NM_006157	NP_006148			nel-like 1 isoform 1 precursor						cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3																		---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346846	48346846	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346846T>G	uc010rhv.1	+	1	354	c.354T>G	c.(352-354)TCT>TCG	p.S118S		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
SPRYD5	84767	broad.mit.edu	37	11	55658885	55658885	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55658885T>G	uc010rip.1	+	7	1228	c.1136T>G	c.(1135-1137)CTT>CGT	p.L379R	SPRYD5_uc010riq.1_Missense_Mutation_p.L236R	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	379	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)																---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703186G>A	uc010ris.1	-	1	691	c.691C>T	c.(691-693)CGC>TGC	p.R231C		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872685	55872685	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55872685T>C	uc010riy.1	+	1	167	c.167T>C	c.(166-168)CTT>CCT	p.L56P		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)														HNSCC(53;0.14)			---	---	---	---
TBX10	347853	broad.mit.edu	37	11	67399229	67399229	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67399229C>T	uc001omp.2	-	8	1093	c.1005G>A	c.(1003-1005)CCG>CCA	p.P335P	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89402649	89402649	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89402649T>A	uc001pda.2	+	3	599	c.73T>A	c.(73-75)TTT>ATT	p.F25I		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	25					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533693	92533693	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92533693T>C	uc001pdj.3	+	9	7531	c.7514T>C	c.(7513-7515)GTG>GCG	p.V2505A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2505	Cadherin 23.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
AMOTL1	154810	broad.mit.edu	37	11	94532886	94532886	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94532886G>A	uc001pfb.2	+	3	700	c.530G>A	c.(529-531)CGG>CAG	p.R177Q	AMOTL1_uc001pfc.2_Missense_Mutation_p.R127Q	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	177						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)																---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120180199	120180199	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120180199G>A	uc001pxc.2	+	10	1074	c.972G>A	c.(970-972)GTG>GTA	p.V324V	POU2F3_uc010rzk.1_Silent_p.V278V|POU2F3_uc010rzl.1_Silent_p.V254V|POU2F3_uc001pxe.1_Silent_p.V109V	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN	POU transcription factor	324	Homeobox.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)														---	---	---	---
OR6X1	390260	broad.mit.edu	37	11	123624580	123624580	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123624580T>C	uc010rzy.1	-	1	647	c.647A>G	c.(646-648)TAT>TGT	p.Y216C		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	216	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9070318	9070318	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9070318T>G	uc001qvd.2	+	2	201	c.45T>G	c.(43-45)AGT>AGG	p.S15R	PHC1_uc001qvc.1_Missense_Mutation_p.S15R|PHC1_uc010sgn.1_Missense_Mutation_p.S15R|PHC1_uc001qve.2_Missense_Mutation_p.S15R	NM_004426	NP_004417	P78364	PHC1_HUMAN	polyhomeotic 1-like	15					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
KLRG1	10219	broad.mit.edu	37	12	9162129	9162129	+	Intron	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9162129T>G	uc001qvh.2	+						KLRG1_uc001qvg.2_Missense_Mutation_p.L189R	NM_005810	NP_005801			killer cell lectin-like receptor subfamily G,						cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1																		---	---	---	---
CLEC2D	29121	broad.mit.edu	37	12	9847365	9847365	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9847365C>T	uc001qwg.1	+	5	493	c.471C>T	c.(469-471)ATC>ATT	p.I157I	CLEC2D_uc001qwf.1_Missense_Mutation_p.P185S|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_RNA|CLEC2D_uc009zgu.1_Missense_Mutation_p.P81S	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	157	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0																		---	---	---	---
CD69	969	broad.mit.edu	37	12	9907796	9907796	+	Silent	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9907796A>C	uc001qwk.2	-	3	330	c.249T>G	c.(247-249)TCT>TCG	p.S83S	CD69_uc010sgu.1_Silent_p.S83S|CD69_uc010sgv.1_Silent_p.S83S	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	83	Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0																		---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21033859	21033859	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21033859A>C	uc001rek.2	+	11	1528	c.1402A>C	c.(1402-1404)AGT>CGT	p.S468R	SLCO1B3_uc001rel.2_Missense_Mutation_p.S468R|SLCO1B3_uc010sil.1_Missense_Mutation_p.S468R|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.S293R	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	468	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---
LST-3TM12	338821	broad.mit.edu	37	12	21205069	21205069	+	Silent	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21205069T>G	uc010sin.1	+	9	1230	c.1230T>G	c.(1228-1230)TCT>TCG	p.S410S	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.S457S	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	410						membrane	transporter activity				0																		---	---	---	---
IAPP	3375	broad.mit.edu	37	12	21526276	21526276	+	Translation_Start_Site	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21526276T>G	uc001rev.2	+	2	143	c.-9T>G	c.(-11--7)ATTTG>ATGTG		SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406			islet amyloid polypeptide precursor						apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)													---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53686075	53686075	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53686075C>T	uc001sck.2	+	28	5901	c.5810C>T	c.(5809-5811)CCA>CTA	p.P1937L	ESPL1_uc001scj.2_Missense_Mutation_p.P1612L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1937					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3																		---	---	---	---
OR6C3	254786	broad.mit.edu	37	12	55725817	55725817	+	Silent	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55725817T>C	uc010spj.1	+	1	333	c.333T>C	c.(331-333)ATT>ATC	p.I111I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70918302	70918302	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70918302C>G	uc001swb.3	-	31	5950	c.5920G>C	c.(5920-5922)GAA>CAA	p.E1974Q	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.E1884Q|PTPRB_uc010stp.1_Missense_Mutation_p.E1884Q|PTPRB_uc001swc.3_Missense_Mutation_p.E2192Q|PTPRB_uc001swa.3_Missense_Mutation_p.E2104Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1974	Cytoplasmic (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)															---	---	---	---
LIN7A	8825	broad.mit.edu	37	12	81283099	81283099	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81283099T>G	uc001szj.1	-	2	325	c.132A>C	c.(130-132)GAA>GAC	p.E44D	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	44	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2																		---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81648624	81648624	+	Intron	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81648624T>C	uc001szl.1	+						ACSS3_uc001szm.1_Intron|ACSS3_uc001szn.1_Intron	NM_024560	NP_078836			acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90017964	90017964	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:90017964A>G	uc001tbh.2	-	8	1521	c.1340T>C	c.(1339-1341)GTC>GCC	p.V447A	ATP2B1_uc001tbg.2_Missense_Mutation_p.V447A|ATP2B1_uc001tbf.2_Missense_Mutation_p.V117A	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	447	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DAO	1610	broad.mit.edu	37	12	109294277	109294277	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109294277A>C	uc001tnr.3	+	11	1163	c.1010A>C	c.(1009-1011)AAG>ACG	p.K337T	DAO_uc001tnq.3_Missense_Mutation_p.K271T|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	337					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2																		---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114397059	114397059	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114397059C>G	uc009zwi.2	-	5	673	c.529G>C	c.(529-531)GGG>CGG	p.G177R	RBM19_uc001tvn.3_Missense_Mutation_p.G177R|RBM19_uc001tvm.2_Missense_Mutation_p.G177R	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	177					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130884319	130884319	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130884319A>C	uc001uil.2	-	18	3201	c.3037T>G	c.(3037-3039)TTC>GTC	p.F1013V		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1013	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31803342	31803342	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:31803342G>A	uc010aaz.2	+	4	291	c.181G>A	c.(181-183)GTC>ATC	p.V61I		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	61	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36686298	36686298	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36686298T>C	uc001uvf.2	-	3	664	c.431A>G	c.(430-432)AAG>AGG	p.K144R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	144					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)														---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53624669	53624669	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53624669C>T	uc001vhl.2	+	5	1296	c.1296C>T	c.(1294-1296)AAC>AAT	p.N432N	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	432	Olfactomedin-like.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)														---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78475270	78475270	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78475270A>G	uc001vko.2	-	4	1132	c.874T>C	c.(874-876)TTT>CTT	p.F292L	EDNRB_uc001vkq.1_Missense_Mutation_p.F292L|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.F292L|EDNRB_uc001vkp.1_Missense_Mutation_p.F375L	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	292	Helical; Name=5; (Potential).		F -> L (in WS4A).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492440	78492440	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492440C>T	uc001vko.2	-	1	527	c.269G>A	c.(268-270)TGC>TAC	p.C90Y	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.C90Y|EDNRB_uc010aez.1_Missense_Mutation_p.C90Y|EDNRB_uc001vkp.1_Missense_Mutation_p.C173Y|EDNRB_uc010afa.1_Missense_Mutation_p.C90Y	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	90	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86370123	86370123	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:86370123C>T	uc001vll.1	-	2	980	c.521G>A	c.(520-522)AGT>AAT	p.S174N	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	174	LRR 4.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)														---	---	---	---
PNN	5411	broad.mit.edu	37	14	39649857	39649857	+	Missense_Mutation	SNP	G	A	A	rs144685853		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39649857G>A	uc001wuw.3	+	9	1041	c.944G>A	c.(943-945)CGA>CAA	p.R315Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	315	Potential.|Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)														---	---	---	---
ESR2	2100	broad.mit.edu	37	14	64699876	64699876	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64699876G>A	uc001xha.1	-	9	2040	c.1572C>T	c.(1570-1572)TCC>TCT	p.S524S	ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.S433S	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	524	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)													---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92471267	92471267	+	Missense_Mutation	SNP	G	A	A	rs147257207		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92471267G>A	uc001xzy.2	-	11	3841	c.3053C>T	c.(3052-3054)ACG>ATG	p.T1018M	TRIP11_uc010auf.1_Missense_Mutation_p.T754M	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1018	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---
SERPINA3	12	broad.mit.edu	37	14	95089967	95089967	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95089967T>G	uc001ydp.2	+	5	1167	c.1088T>G	c.(1087-1089)CTT>CGT	p.L363R	SERPINA3_uc001ydo.3_Missense_Mutation_p.L388R|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.L363R|SERPINA3_uc001yds.2_Missense_Mutation_p.L363R|SERPINA3_uc010avg.2_Missense_Mutation_p.L363R	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	363				AVL -> VVS (in Ref. 1; AAA51543).	acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)														---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104219502	104219502	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104219502G>T	uc001yof.1	-	7	946	c.663C>A	c.(661-663)TTC>TTA	p.F221L	PPP1R13B_uc001yog.1_Missense_Mutation_p.F88L	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	221	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25928482	25928482	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25928482T>A	uc010ayu.2	-	17	3549	c.3443A>T	c.(3442-3444)AAT>ATT	p.N1148I		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1148	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31295126	31295126	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31295126G>A	uc001zfm.2	-	27	3839	c.3711C>T	c.(3709-3711)ATC>ATT	p.I1237I	TRPM1_uc010azy.2_Silent_p.I1144I|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1237	Potential.|Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---
ATPBD4	89978	broad.mit.edu	37	15	35814440	35814440	+	Intron	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35814440G>T	uc001zja.2	-						ATPBD4_uc001ziz.2_Intron|ATPBD4_uc001zjb.2_Missense_Mutation_p.L118M	NM_080650	NP_542381			ATP binding domain 4 isoform 1												0		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)														---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42154357	42154357	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42154357G>A	uc001zos.2	-	44	7747	c.7414C>T	c.(7414-7416)CGT>TGT	p.R2472C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2507	Spectrin 22.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43019870	43019870	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43019870G>A	uc001zql.2	-	23	3162	c.3045C>T	c.(3043-3045)CGC>CGT	p.R1015R	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.R341R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	1015						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)														---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43815290	43815290	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43815290G>A	uc001zrt.2	+	4	2086	c.1619G>A	c.(1618-1620)CGT>CAT	p.R540H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	540	9 X 3 AA repeats of K-K-[DE].|9.					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)													---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49426269	49426269	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49426269A>C	uc001zxf.2	-	8	831	c.752T>G	c.(751-753)TTT>TGT	p.F251C	COPS2_uc001zxh.2_Missense_Mutation_p.F258C|COPS2_uc010ufa.1_Missense_Mutation_p.F187C	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	251	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)														---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72556894	72556894	+	Splice_Site	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72556894A>G	uc002auc.2	-	7	854	c.395_splice	c.e7+1	p.K132_splice	PARP6_uc002aua.2_Splice_Site|PARP6_uc002aub.2_Splice_Site|PARP6_uc002aud.3_Splice_Site|PARP6_uc002auf.1_Splice_Site_p.K132_splice	NM_020214	NP_064599			poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88680631	88680631	+	Intron	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88680631T>G	uc002bme.1	-						NTRK3_uc002bmh.2_Intron|NTRK3_uc002bmf.1_Intron|NTRK3_uc010upl.1_Intron|NTRK3_uc010bnh.1_Intron|NTRK3_uc002bmg.2_Intron	NM_001012338	NP_001012338			neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)					T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			---	---	---	---
ACAN	176	broad.mit.edu	37	15	89401172	89401172	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89401172A>C	uc010upo.1	+	12	5730	c.5356A>C	c.(5356-5358)AGT>CGT	p.S1786R	ACAN_uc010upp.1_Missense_Mutation_p.S1786R|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1786					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)															---	---	---	---
ATF7IP2	80063	broad.mit.edu	37	16	10551372	10551372	+	Missense_Mutation	SNP	G	T	T	rs144631035	byFrequency	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10551372G>T	uc002czu.2	+	7	1565	c.1338G>T	c.(1336-1338)AAG>AAT	p.K446N	ATF7IP2_uc002czv.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.K446N|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15705584	15705584	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15705584C>T	uc002ddr.2	-	18	3675	c.3482G>A	c.(3481-3483)GGA>GAA	p.G1161E	KIAA0430_uc002ddq.2_Missense_Mutation_p.G995E|KIAA0430_uc010uzv.1_Missense_Mutation_p.G1157E|KIAA0430_uc010uzw.1_Missense_Mutation_p.G1160E	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1160						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31283280	31283280	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31283280G>T	uc002ebq.2	+	7	769	c.671G>T	c.(670-672)CGG>CTG	p.R224L	ITGAM_uc002ebr.2_Missense_Mutation_p.R224L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	224	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1																		---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424889	67424889	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67424889G>A	uc002esz.2	-	1	961	c.126C>T	c.(124-126)TGC>TGT	p.C42C	TPPP3_uc002eta.2_Silent_p.C42C|TPPP3_uc002etb.2_Silent_p.C42C	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family	42					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)														---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67918061	67918061	+	3'UTR	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67918061C>G	uc002eur.2	+	29					EDC4_uc010cer.2_3'UTR|EDC4_uc002eus.2_3'UTR|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144			autoantigen RCD8						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)												OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466499	78466499	+	Silent	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:78466499C>G	uc002ffk.2	+	8	1031	c.906C>G	c.(904-906)CTC>CTG	p.L302L	WWOX_uc010vnk.1_Silent_p.L189L|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	302	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)														---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9846433	9846433	+	Intron	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9846433T>G	uc002gmg.1	-						GAS7_uc010vvc.1_Intron|GAS7_uc002gmh.1_Intron|GAS7_uc010vvd.1_Intron|GAS7_uc002gmi.2_Intron|GAS7_uc002gmj.1_Intron|GAS7_uc010coh.1_Intron	NM_201433	NP_958839			growth arrest-specific 7 isoform c						cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*								---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27944531	27944531	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27944531C>A	uc002hel.2	-	5	742	c.740G>T	c.(739-741)GGC>GTC	p.G247V	CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	247	WD 4.				actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0																		---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36876981	36876981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36876981C>A	uc002hqi.3	+	16	2436	c.2423C>A	c.(2422-2424)TCG>TAG	p.S808*	MLLT6_uc002hqj.2_Nonsense_Mutation_p.S243*|MLLT6_uc002hqk.3_Nonsense_Mutation_p.S139*	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	808					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37882863	37882863	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37882863C>T	uc002hso.2	+	24	3159	c.2921C>T	c.(2920-2922)TCT>TTT	p.S974F	ERBB2_uc002hsm.2_Missense_Mutation_p.S944F|ERBB2_uc010cwa.2_Missense_Mutation_p.S959F|ERBB2_uc002hsp.2_Missense_Mutation_p.S777F|ERBB2_uc010cwb.2_Missense_Mutation_p.S974F|ERBB2_uc010wek.1_Missense_Mutation_p.S698F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	974	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38950093	38950093	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38950093T>C	uc002hvh.1	-	6	1250	c.1184A>G	c.(1183-1185)GAT>GGT	p.D395G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	395	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)																---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76464876	76464876	+	5'Flank	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76464876C>T	uc010dhp.1	-						DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34349283	34349283	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34349283T>A	uc002kzt.1	+	23	4177	c.4080T>A	c.(4078-4080)GAT>GAA	p.D1360E	FHOD3_uc002kzs.1_Missense_Mutation_p.D1377E|FHOD3_uc010dmz.1_Missense_Mutation_p.D1092E|FHOD3_uc010dnb.1_Missense_Mutation_p.M298K	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1360	DAD.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39607420	39607420	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39607420G>A	uc002lap.2	+	14	1556	c.1498G>A	c.(1498-1500)GAA>AAA	p.E500K	PIK3C3_uc010xcl.1_Missense_Mutation_p.E437K|PIK3C3_uc002laq.2_5'UTR	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	500					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
DCC	1630	broad.mit.edu	37	18	50832036	50832036	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50832036G>A	uc002lfe.1	+	13	2587	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	DCC_uc010xdr.1_Missense_Mutation_p.R515H|DCC_uc010dpf.1_Missense_Mutation_p.R322H	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	667	Extracellular (Potential).|Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9089223	9089223	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9089223T>G	uc002mkp.2	-	1	2796	c.2592A>C	c.(2590-2592)GAA>GAC	p.E864D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	864	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12738763	12738763	+	Silent	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12738763C>G	uc002mua.2	+	4	582	c.420C>G	c.(418-420)GCC>GCG	p.A140A	ZNF791_uc010xml.1_Silent_p.A108A|ZNF791_uc010dyu.1_Silent_p.A31A|ZNF791_uc010xmm.1_Silent_p.A31A	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	140	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14029939	14029939	+	Intron	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14029939G>A	uc002mxo.2	+						CC2D1A_uc002mxn.2_Intron|CC2D1A_uc002mxp.2_Intron|CC2D1A_uc010dzh.2_Intron|CC2D1A_uc002mxq.1_Intron	NM_017721	NP_060191			coiled-coil and C2 domain containing 1A						positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22156121	22156121	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22156121T>G	uc002nqp.2	-	5	1564	c.1415A>C	c.(1414-1416)AAG>ACG	p.K472T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934928	30934928	+	Silent	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30934928G>A	uc002nsu.1	+	2	597	c.459G>A	c.(457-459)ACG>ACA	p.T153T	ZNF536_uc010edd.1_Silent_p.T153T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	153					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)																	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39066574	39066574	+	Silent	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39066574C>T	uc002oit.2	+	97	14275	c.14145C>T	c.(14143-14145)AAC>AAT	p.N4715N	RYR1_uc002oiu.2_Silent_p.N4710N	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4715					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42880436	42880436	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42880436C>T	uc002otl.3	+	41	8481	c.7846C>T	c.(7846-7848)CGC>TGC	p.R2616C	MEGF8_uc002otm.3_Missense_Mutation_p.R2224C|MEGF8_uc002otn.3_Missense_Mutation_p.R277C	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2683	Cytoplasmic (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
TRAPPC6A	79090	broad.mit.edu	37	19	45668181	45668181	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45668181T>A	uc002paw.2	-	3	219	c.200A>T	c.(199-201)AAG>ATG	p.K67M	TRAPPC6A_uc002pav.2_Missense_Mutation_p.K81M			O75865	TPC6A_HUMAN	SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;	67					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)														---	---	---	---
MIR521-1	574494	broad.mit.edu	37	19	54251945	54251945	+	RNA	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54251945C>T	hsa-mir-521-1|MI0003176	+			c.56C>T			MIR522_hsa-mir-522|MI0003177_5'Flank																	0																		---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55494614	55494614	+	Silent	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55494614C>A	uc002qij.2	+	6	1634	c.1548C>A	c.(1546-1548)ACC>ACA	p.T516T	NLRP2_uc010yfp.1_Silent_p.T493T|NLRP2_uc010esn.2_Silent_p.T492T|NLRP2_uc010eso.2_Silent_p.T513T|NLRP2_uc010esp.2_Silent_p.T494T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	516	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)														---	---	---	---
SLC4A11	83959	broad.mit.edu	37	20	3214855	3214855	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3214855C>A	uc002wig.2	-	4	493	c.445G>T	c.(445-447)GAT>TAT	p.D149Y	SLC4A11_uc010zqe.1_Missense_Mutation_p.D176Y|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.D133Y	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	149	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21330021	21330021	+	Intron	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21330021A>G	uc002wsf.1	+						XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_Intron	NM_012255	NP_036387			5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---
REM1	28954	broad.mit.edu	37	20	30070287	30070287	+	Silent	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30070287G>T	uc002wwa.2	+	4	905	c.621G>T	c.(619-621)GTG>GTT	p.V207V		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	207					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
FITM2	128486	broad.mit.edu	37	20	42935377	42935377	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42935377C>A	uc002xlr.1	-	2	778	c.677G>T	c.(676-678)GGT>GTT	p.G226V		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	226	Helical; (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2																		---	---	---	---
KCNK15	60598	broad.mit.edu	37	20	43379120	43379120	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43379120G>A	uc002xmr.2	+	2	698	c.634G>A	c.(634-636)GAG>AAG	p.E212K		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	212						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44670087	44670087	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44670087G>A	uc010zxl.1	+	8	1119	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.R325H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	348	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408026	50408026	+	Silent	SNP	G	A	A	rs137963401		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50408026G>A	uc002xwh.3	-	2	1097	c.996C>T	c.(994-996)AGC>AGT	p.S332S	SALL4_uc010gii.2_Silent_p.S332S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	332					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62221495	62221495	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62221495G>A	uc002yfp.1	-	9	2019	c.1540C>T	c.(1540-1542)CAC>TAC	p.H514Y	GMEB2_uc002yfo.1_Missense_Mutation_p.H436Y|GMEB2_uc002yfq.1_Missense_Mutation_p.H514Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	514					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)															---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28306878	28306878	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28306878C>G	uc002ymg.2	-	4	2325	c.1596G>C	c.(1594-1596)AAG>AAC	p.K532N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	532	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
MB	4151	broad.mit.edu	37	22	36003502	36003502	+	Intron	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36003502G>T	uc003anz.2	-						MB_uc003aoa.2_Intron|MB_uc003aob.2_Intron	NM_005368	NP_005359			myoglobin								heme binding|oxygen transporter activity				0																		---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36698672	36698672	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36698672C>T	uc003apg.2	-	20	2672	c.2441G>A	c.(2440-2442)CGG>CAG	p.R814Q	MYH9_uc003aph.1_Missense_Mutation_p.R678Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	814					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---
SMCR7L	54471	broad.mit.edu	37	22	39909637	39909637	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39909637G>C	uc003axx.2	+	6	1199	c.701G>C	c.(700-702)CGT>CCT	p.R234P	SMCR7L_uc003axw.2_Missense_Mutation_p.R234P|SMCR7L_uc010gxz.1_Missense_Mutation_p.R56P|SMCR7L_uc003axy.2_Missense_Mutation_p.R56P	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	234						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40055853	40055853	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40055853C>T	uc003ayc.2	+	14	2600	c.2600C>T	c.(2599-2601)GCG>GTG	p.A867V	CACNA1I_uc003ayd.2_Missense_Mutation_p.A832V|CACNA1I_uc003aye.2_Missense_Mutation_p.A782V|CACNA1I_uc003ayf.2_Missense_Mutation_p.A747V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	867	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44168845	44168845	+	Missense_Mutation	SNP	C	T	T	rs139182657	byFrequency	TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44168845C>T	uc003bdy.1	-	4	493	c.278G>A	c.(277-279)AGT>AAT	p.S93N	EFCAB6_uc003bdz.1_Intron|EFCAB6_uc010gzi.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.S90N|EFCAB6_uc003beb.3_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	93	EF-hand 1.				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)																---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50278064	50278064	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50278064G>A	uc003bix.2	+	2	1224	c.754G>A	c.(754-756)GTG>ATG	p.V252M		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	252						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---
NCAPH2	29781	broad.mit.edu	37	22	50956614	50956614	+	Missense_Mutation	SNP	G	A	A	rs141520277		TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50956614G>A	uc003blr.3	+	7	675	c.553G>A	c.(553-555)GTT>ATT	p.V185I	NCAPH2_uc003blq.3_Missense_Mutation_p.V185I|NCAPH2_uc003blv.2_Missense_Mutation_p.V185I|NCAPH2_uc010hbb.2_Missense_Mutation_p.V36I|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.V185I|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	185					chromosome condensation	chromosome|nucleus				ovary(1)|skin(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)														---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239959	3239959	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3239959T>G	uc004crg.3	-	5	3924	c.3767A>C	c.(3766-3768)AAG>ACG	p.K1256T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1256						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
Unknown	0	broad.mit.edu	37	X	26179622	26179622	+	IGR	SNP	C	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179622C>T								MAGEB18 (20770 upstream) : MAGEB6 (30935 downstream)																																			---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85950029	85950029	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:85950029A>T	uc004eew.2	+	5	948	c.778A>T	c.(778-780)AGT>TGT	p.S260C	DACH2_uc004eex.2_Missense_Mutation_p.S247C|DACH2_uc010nmq.2_Missense_Mutation_p.S126C|DACH2_uc011mra.1_Missense_Mutation_p.S93C|DACH2_uc010nmr.2_Missense_Mutation_p.S41C	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5																		---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105281009	105281009	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105281009A>C	uc004eme.1	-	1	57	c.41T>G	c.(40-42)CTT>CGT	p.L14R	SERPINA7_uc010npd.2_Missense_Mutation_p.L14R|SERPINA7_uc010npe.1_Missense_Mutation_p.L14R	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	14					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694940	109694940	+	Silent	SNP	A	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109694940A>G	uc004eor.1	+	3	1341	c.1095A>G	c.(1093-1095)CCA>CCG	p.P365P	RGAG1_uc011msr.1_Silent_p.P365P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	365										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
MIR890	100126303	broad.mit.edu	37	X	145075866	145075866	+	RNA	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:145075866T>G	hsa-mir-890|MI0005533	-			c.4T>G																				0																		---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148798201	148798201	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148798201T>C	uc004fdq.2	+	5	1157	c.1055T>C	c.(1054-1056)TTT>TCT	p.F352S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.F323S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	352	MAGE.					cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150348896	150348896	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150348896T>G	uc010ntg.1	+	2	976	c.841T>G	c.(841-843)TTC>GTC	p.F281V	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	281	Helical; Name=7; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
DNASE1L1	1774	broad.mit.edu	37	X	153631654	153631654	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4466-01	TCGA-CG-4466-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153631654G>T	uc004fks.1	-	6	672	c.481C>A	c.(481-483)CTC>ATC	p.L161I	RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_Missense_Mutation_p.E106D|DNASE1L1_uc004fkt.1_Missense_Mutation_p.L161I|DNASE1L1_uc004fku.1_Missense_Mutation_p.L161I|DNASE1L1_uc004fkv.1_Missense_Mutation_p.L161I|DNASE1L1_uc004fkw.1_Missense_Mutation_p.L161I	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	161					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
