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
TNFRSF9	3604	broad.mit.edu	37	1	7980709	7980709	+	3'UTR	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7980709delA	uc001aot.2	-	8						NM_001561	NP_001552			tumor necrosis factor receptor superfamily,						induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16894025	16894025	+	Intron	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16894025delA	uc009vos.1	-						NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Intron	NM_017940	NP_060410			hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	61509502	61509503	+	IGR	DEL	AC	-	-	rs71830791		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:61509502_61509503delAC								C1orf87 (970076 upstream) : NFIA (33443 downstream)																																			---	---	---	---
MAGI3	260425	broad.mit.edu	37	1	113992210	113992210	+	Intron	DEL	T	-	-	rs34091729		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113992210delT	uc001edk.2	+						MAGI3_uc001edh.3_Intron|MAGI3_uc001edi.3_Intron|MAGI3_uc010owm.1_Intron	NM_001142782	NP_001136254			membrane-associated guanylate kinase-related  3						apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
C1orf100	200159	broad.mit.edu	37	1	244538931	244538931	+	Intron	DEL	G	-	-	rs141977606		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244538931delG	uc001iah.2	+						C1orf100_uc001iai.2_Intron	NM_001012970	NP_001012988			hypothetical protein LOC200159												0	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)															---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28773037	28773038	+	Intron	INS	-	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28773037_28773038insT	uc002rmb.1	+						PLB1_uc010ezj.1_Intron|PLB1_uc002rmc.2_Intron	NM_153021	NP_694566			phospholipase B1 precursor						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	3	75703798	75703798	+	IGR	DEL	G	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:75703798delG								MIR1324 (23789 upstream) : ZNF717 (54996 downstream)																																			---	---	---	---
GUCA1C	9626	broad.mit.edu	37	3	108627203	108627203	+	Intron	DEL	C	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									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																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	180605394	180605395	+	IGR	INS	-	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180605394_180605395insT								CCDC39 (149732 upstream) : FXR1 (25057 downstream)																																			---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166910816	166910816	+	Intron	DEL	T	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166910816delT	uc003irh.1	+						TLL1_uc011cjn.1_Intron|TLL1_uc011cjo.1_Intron	NM_012464	NP_036596			tolloid-like 1 precursor						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90006963	90006963	+	Intron	DEL	T	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90006963delT	uc003kju.2	+						GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_Intron	NM_032119	NP_115495			G protein-coupled receptor 98 precursor						cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138665246	138665246	+	3'UTR	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138665246delA	uc003ldu.2	+	18					MATR3_uc003ldt.2_3'UTR|MATR3_uc003ldw.2_3'UTR|MATR3_uc003ldx.2_3'UTR|MATR3_uc010jfc.2_3'UTR|MATR3_uc011czb.1_3'UTR|MATR3_uc003ldz.2_3'UTR|MATR3_uc003lea.2_3'UTR|MATR3_uc003leb.2_3'UTR|MATR3_uc003lec.2_3'UTR	NM_199189	NP_954659			matrin 3							nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169267589	169267590	+	Intron	INS	-	GAT	GAT	rs140862194	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169267589_169267590insGAT	uc003maf.2	+						DOCK2_uc011der.1_Intron|DOCK2_uc010jjm.2_Intron	NM_004946	NP_004937			dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
ZKSCAN3	80317	broad.mit.edu	37	6	28327932	28327932	+	Intron	DEL	T	-	-	rs113424723		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28327932delT	uc003nle.3	+						ZKSCAN3_uc010jrc.2_Intron|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819			zinc finger with KRAB and SCAN domains 3						positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38952247	38952250	+	Intron	DEL	CACA	-	-	rs34819199		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38952247_38952250delCACA	uc003ooe.1	+						DNAH8_uc003oog.1_3'UTR	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159044795	159044795	+	Intron	DEL	T	-	-	rs67157899		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159044795delT	uc003qrm.3	+						TMEM181_uc010kjr.1_Intron	NM_020823	NP_065874			G protein-coupled receptor 178						pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)														---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901465	4901466	+	5'UTR	INS	-	CACGTCCCCCACCACCGCGACCTT	CACGTCCCCCACCACCGCGACCTT	rs143942823	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4901465_4901466insCACGTCCCCCACCACCGCGACCTT	uc003snk.2	-	1					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529			poly(A) polymerase beta (testis specific)						mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---
AMPH	273	broad.mit.edu	37	7	38466773	38466774	+	Intron	INS	-	AA	AA	rs5883649		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38466773_38466774insAA	uc003tgu.2	-						AMPH_uc003tgv.2_Intron|AMPH_uc003tgt.2_Intron|AMPH_uc003tgw.1_Intron|AMPH_uc010kxl.1_Intron	NM_001635	NP_001626			amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	5'Flank	INS	-	G	G	rs71293166	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66767610_66767611insG	uc003tvt.3	+						PMS2L4_uc003tvo.2_5'Flank|PMS2L4_uc003tvq.2_5'Flank|PMS2L4_uc003tvr.3_5'Flank|PMS2L4_uc003tvs.3_5'Flank|STAG3L4_uc010laj.2_5'Flank	NM_022906	NP_075057			stromal antigen 3-like 4												0		Lung NSC(55;0.0839)|all_lung(88;0.181)																---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102781687	102781687	+	Intron	DEL	G	-	-	rs59381915		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102781687delG	uc003vbc.2	-						NAPEPLD_uc003vbd.2_Intron|NAPEPLD_uc011klj.1_Intron|NAPEPLD_uc003vbe.2_Intron|NAPEPLD_uc003vbf.2_Intron	NM_198990	NP_945341			N-acyl phosphatidylethanolamine phospholipase D						phospholipid catabolic process	membrane	metal ion binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	8	53357923	53357923	+	IGR	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53357923delA								ST18 (35484 upstream) : FAM150A (88675 downstream)																																			---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144511954_144511956delTGG	uc003yyc.1	-	1	621_623	c.621_623delCCA	c.(619-624)CACCAT>CAT	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	207_208	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)												HNSCC(29;0.082)			---	---	---	---
Unknown	0	broad.mit.edu	37	9	45362789	45362791	+	IGR	DEL	TTC	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:45362789_45362791delTTC								FAM27C (371298 upstream) : FAM27A (364238 downstream)																																			---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104297516	104297516	+	Intron	DEL	T	-	-	rs76960510		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104297516delT	uc004bbn.2	+							NM_019592	NP_062538			ring finger protein 20						histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)														---	---	---	---
NCS1	23413	broad.mit.edu	37	9	132985262	132985262	+	Intron	DEL	C	-	-	rs34826568		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132985262delC	uc004bzi.2	+						NCS1_uc010myz.1_Intron	NM_014286	NP_055101			frequenin homolog isoform 1						negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding				0																		---	---	---	---
SLC16A9	220963	broad.mit.edu	37	10	61444172	61444172	+	Intron	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61444172delA	uc010qig.1	-							NM_194298	NP_919274			solute carrier family 16 (monocarboxylic acid						urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3																		---	---	---	---
FAM190B	54462	broad.mit.edu	37	10	86148861	86148861	+	Intron	DEL	T	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:86148861delT	uc001kdh.1	+						FAM190B_uc010qmd.1_Intron	NM_018999	NP_061872			granule cell antiserum positive 14											ovary(3)|skin(1)	4																		---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103238966	103238968	+	Intron	DEL	CCT	-	-	rs67537209		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103238966_103238968delCCT	uc001kta.2	+						BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Intron	NM_033637	NP_378663			beta-transducin repeat containing protein						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)														---	---	---	---
VTI1A	143187	broad.mit.edu	37	10	114574898	114574899	+	Intron	INS	-	CA	CA	rs631578	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114574898_114574899insCA	uc001kzz.2	+							NM_145206	NP_660207			SNARE Vti1a-beta protein						intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)														---	---	---	---
KIAA0652	9776	broad.mit.edu	37	11	46670582	46670583	+	Intron	INS	-	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46670582_46670583insT	uc009yld.2	+						KIAA0652_uc001nda.2_Intron|KIAA0652_uc001ndb.2_Intron|KIAA0652_uc001ncz.2_Intron|KIAA0652_uc001ndc.2_Intron|KIAA0652_uc010rgv.1_Intron	NM_001142673	NP_001136145			autophagy-related protein 13 isoform 1						autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119057868	119057868	+	Intron	DEL	G	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119057868delG	uc001pwb.2	+						PDZD3_uc001pvy.2_Intron|PDZD3_uc001pvz.2_Intron|PDZD3_uc010rzd.1_Intron|PDZD3_uc001pwa.2_Intron					RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;						cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)														---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54967640	54967641	+	Intron	INS	-	GA	GA	rs142403478	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54967640_54967641insGA	uc001sgd.1	+						PDE1B_uc010soz.1_Intron|PDE1B_uc010spa.1_Intron|PDE1B_uc001sgf.2_Intron|PDE1B_uc001sge.2_Intron|PDE1B_uc009znq.2_Intron	NM_000924	NP_000915			phosphodiesterase 1B isoform 1						activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101873596	101873597	+	Intron	INS	-	T	T	rs35835395		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101873596_101873597insT	uc001tid.2	+						SPIC_uc009zua.2_Intron|SPIC_uc010svp.1_Intron	NM_152323	NP_689536			Spi-C transcription factor (Spi-1/PU.1 related)							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	14	43769943	43769943	+	IGR	DEL	T	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:43769943delT								None (None upstream) : None (None downstream)																																			---	---	---	---
MIR544	664613	broad.mit.edu	37	14	101514904	101514905	+	5'Flank	DEL	GT	-	-	rs112536165		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101514904_101514905delGT	hsa-mir-544|MI0003515	+						MIR655_hsa-mir-655|MI0003677_5'Flank																	0																		---	---	---	---
RAD51	5888	broad.mit.edu	37	15	40993575	40993575	+	Intron	DEL	T	-	-	rs67977099		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40993575delT	uc001zmi.3	+						RAD51_uc010bbw.2_Intron|RAD51_uc010bbx.2_Intron|RAD51_uc001zmk.3_Intron|RAD51_uc001zml.3_Intron|RAD51_uc001zmm.1_Intron|RAD51_uc001zmn.1_Intron	NM_002875	NP_002866			RAD51 homolog protein isoform 1						DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity				0		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)									Homologous_recombination					---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48058484	48058484	+	Intron	DEL	G	-	-	rs528882	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48058484delG	uc010bek.2	+						SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Intron|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871			semaphorin 6D isoform 4 precursor						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	29096435	29096435	+	Intron	DEL	T	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29096435delT	uc010vct.1	-						RRN3P2_uc010vdm.1_Intron|RRN3P2_uc002dsf.3_Intron|RRN3P2_uc002dsg.3_Intron|RRN3P2_uc010vdn.1_Intron					RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;																														---	---	---	---
Unknown	0	broad.mit.edu	37	16	64770704	64770705	+	IGR	INS	-	CCAGTGATGGTCACCT	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:64770704_64770705insCCAGTGATGGTCACCT								None (None upstream) : CDH11 (209980 downstream)																																			---	---	---	---
CDK10	8558	broad.mit.edu	37	16	89755516	89755516	+	Intron	DEL	A	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89755516delA	uc010cio.2	+						CDK10_uc002foa.2_Intron|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Intron|CDK10_uc002fob.2_Intron|CDK10_uc002fod.2_Intron|CDK10_uc002foe.2_Intron|CDK10_uc002fof.2_Intron|CDK10_uc002fog.3_Intron|CDK10_uc002foh.3_Intron	NM_052988	NP_443714			cyclin-dependent kinase 10 isoform a						negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)														---	---	---	---
DULLARD	23399	broad.mit.edu	37	17	7147350	7147351	+	3'UTR	INS	-	C	C	rs147084197	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7147350_7147351insC	uc002gfd.2	-	8					GABARAP_uc002gfb.2_5'Flank|DULLARD_uc002gfe.2_3'UTR|DULLARD_uc002gff.2_3'UTR|DULLARD_uc002gfc.2_Intron	NM_001143775	NP_001137247			dullard homolog						nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity				0																		---	---	---	---
ALDH3A2	224	broad.mit.edu	37	17	19576700	19576700	+	Intron	DEL	T	-	-	rs66737570		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19576700delT	uc002gwb.1	+						ALDH3A2_uc002gwa.1_Intron|ALDH3A2_uc010cqr.1_Intron|ALDH3A2_uc002gwc.1_Intron|ALDH3A2_uc002gwd.1_Intron	NM_000382	NP_000373			aldehyde dehydrogenase 3A2 isoform 2						cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)													---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74090830	74090830	+	Intron	DEL	T	-	-	rs35625794		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74090830delT	uc002jqs.2	-						EXOC7_uc010dgv.1_Intron|EXOC7_uc002jqq.2_Intron|EXOC7_uc010wsw.1_Intron|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Intron|EXOC7_uc002jqu.2_Intron	NM_001145297	NP_001138769			exocyst complex component 7 isoform 4						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
ASPSCR1	79058	broad.mit.edu	37	17	79954986	79954987	+	Intron	INS	-	GGGATGAGGCCGTGTGGGCTCC	GGGATGAGGCCGTGTGGGCTCC			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79954986_79954987insGGGATGAGGCCGTGTGGGCTCC	uc002kcx.2	+						ASPSCR1_uc002kcw.1_Intron|ASPSCR1_uc002kcy.2_Intron|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Intron|ASPSCR1_uc002kdb.1_Intron	NM_024083	NP_076988			alveolar soft part sarcoma chromosome region,								protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)					T	TFE3	alveolar soft part sarcoma								---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48591917	48591931	+	In_Frame_Del	DEL	TCGCTTTTGTTTGGG	-	-	rs80338963	byFrequency;by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48591917_48591931delTCGCTTTTGTTTGGG	uc010xdp.1	+	9	1618_1632	c.1080_1094delTCGCTTTTGTTTGGG	c.(1078-1095)GATCGCTTTTGTTTGGGT>GAT	p.RFCLG361del	SMAD4_uc002lfb.3_In_Frame_Del_p.RFCLG206del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361_365	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.F362fs*2(1)|p.R361S(1)|p.C363R(1)|p.C363S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	19991101	19991102	+	Intron	INS	-	G	G	rs142319547		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19991101_19991102insG	uc002noj.2	+						ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron	NM_021047	NP_066385			zinc finger protein 253						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39076921	39076926	+	Intron	DEL	GGGGGT	-	-			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39076921_39076926delGGGGGT	uc002oit.2	+						RYR1_uc002oiu.2_Intron	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						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)													---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41797899	41797899	+	Intron	DEL	C	-	-	rs66916970		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41797899delC	uc002oqb.3	+						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Intron|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Intron|HNRNPUL1_uc010ehn.2_Intron|HNRNPUL1_uc010eho.2_Intron|HNRNPUL1_uc010xvy.1_Intron|HNRNPUL1_uc010ehp.2_Intron|HNRNPUL1_uc010ehl.1_Intron	NM_007040	NP_008971			heterogeneous nuclear ribonucleoprotein U-like 1						nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57648045	57648045	+	Intron	DEL	G	-	-	rs145532440	by1000genomes	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57648045delG	uc002qnz.1	-							NM_052882	NP_443114			zinc finger, imprinted 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
TCFL5	10732	broad.mit.edu	37	20	61473633	61473633	+	Intron	DEL	T	-	-	rs11475897		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61473633delT	uc002ydp.2	-						TCFL5_uc002ydo.2_Intron|DPH3B_uc011aan.1_5'Flank	NM_006602	NP_006593			transcription factor-like 5 protein						cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1	Breast(26;5.68e-08)																	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46792368	46792368	+	Intron	DEL	A	-	-	rs77439378		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46792368delA	uc003bhw.1	-						CELSR1_uc011arc.1_Intron	NM_014246	NP_055061			cadherin EGF LAG seven-pass G-type receptor 1						central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
DVL1	1855	broad.mit.edu	37	1	1284316	1284316	+	Missense_Mutation	SNP	C	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1284316C>A	uc001aer.3	-	1	177	c.130G>T	c.(130-132)GCC>TCC	p.A44S		NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	44	DIX.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158735615G>T	uc010piq.1	-	1	858	c.858C>A	c.(856-858)AAC>AAA	p.N286K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
PIGM	93183	broad.mit.edu	37	1	160001391	160001391	+	Missense_Mutation	SNP	A	G	G			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160001391A>G	uc001fuv.1	-	1	393	c.139T>C	c.(139-141)TAT>CAT	p.Y47H		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	47	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141597657	141597657	+	Intron	SNP	T	G	G			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141597657T>G	uc002tvj.1	-							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)			---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169404164	169404164	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169404164G>T	uc002ueb.1	+	2	353	c.229G>T	c.(229-231)GCT>TCT	p.A77S	LASS6_uc002uec.1_Missense_Mutation_p.A77S	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	77	Cytoplasmic (Potential).|Homeobox.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	A	A	rs146458136		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179736940G>A	uc002unf.1	-	3	331	c.274C>T	c.(274-276)CGG>TGG	p.R92W		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	92	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
CTLA4	1493	broad.mit.edu	37	2	204735471	204735471	+	Missense_Mutation	SNP	T	C	C	rs1065442		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204735471T>C	uc002vak.1	+	2	429	c.272T>C	c.(271-273)ATG>ACG	p.M91T	CTLA4_uc002val.1_Missense_Mutation_p.M91T|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	91	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)													---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230902153	230902153	+	Silent	SNP	C	T	T	rs111580291		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230902153C>T	uc002vqd.1	-	5	1839	c.1476G>A	c.(1474-1476)CCG>CCA	p.P492P	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	492	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)														---	---	---	---
CAND2	23066	broad.mit.edu	37	3	12858630	12858630	+	Silent	SNP	T	C	C			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12858630T>C	uc003bxk.2	+	10	2248	c.2199T>C	c.(2197-2199)AGT>AGC	p.S733S	CAND2_uc003bxj.2_Silent_p.S640S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	733	HEAT 16.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4																		---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52837878	52837878	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52837878G>A	uc003dfv.2	+	14	1753	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165804	172165804	+	Missense_Mutation	SNP	T	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172165804T>A	uc003fib.1	-	1	400	c.400A>T	c.(400-402)ATC>TTC	p.I134F	GHSR_uc011bpv.1_Missense_Mutation_p.I134F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	134	Helical; Name=3; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184024196	184024196	+	Missense_Mutation	SNP	C	G	G			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184024196C>G	uc003fnn.1	+	15	1896	c.1863C>G	c.(1861-1863)GAC>GAG	p.D621E	PSMD2_uc011brj.1_Missense_Mutation_p.D462E|PSMD2_uc011brk.1_Missense_Mutation_p.D491E	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	621					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66429354	66429354	+	Silent	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:66429354C>T	uc003jut.1	+	16	1607	c.1539C>T	c.(1537-1539)ACC>ACT	p.T513T	MAST4_uc003juu.1_Silent_p.T523T|MAST4_uc011cra.1_Silent_p.T496T|MAST4_uc003juv.2_Silent_p.T508T|MAST4_uc003juw.2_Silent_p.T508T	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	705	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)														---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140249981G>A	uc003lia.2	+	1	2151	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S431S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250857	140250857	+	Silent	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140250857G>A	uc003lia.2	+	1	3027	c.2169G>A	c.(2167-2169)TCG>TCA	p.S723S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S723S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	723	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
MXD3	83463	broad.mit.edu	37	5	176734800	176734800	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176734800G>A	uc003mgb.2	-	5	948	c.487C>T	c.(487-489)CGC>TGC	p.R163C	MXD3_uc010jkk.2_Missense_Mutation_p.R163C|MXD3_uc003mga.3_Missense_Mutation_p.R163C|MXD3_uc003mgc.2_Missense_Mutation_p.R153C	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)															---	---	---	---
MBOAT1	154141	broad.mit.edu	37	6	20113188	20113188	+	Silent	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20113188C>T	uc003ncx.1	-	11	1333	c.1128G>A	c.(1126-1128)CTG>CTA	p.L376L	MBOAT1_uc011dji.1_Silent_p.L227L	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	376	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)															---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43181170	43181170	+	Intron	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43181170C>T	uc003ouk.2	+						CUL9_uc003oul.2_Intron|CUL9_uc010jyk.2_Intron|CUL9_uc003oun.2_5'Flank	NM_015089	NP_055904			p53-associated parkin-like cytoplasmic protein						ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
OPN5	221391	broad.mit.edu	37	6	47776100	47776100	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47776100G>T	uc003ozc.2	+	5	972	c.967G>T	c.(967-969)GCA>TCA	p.A323S	OPN5_uc003ozd.2_Missense_Mutation_p.A158S	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	323	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1																		---	---	---	---
WRN	7486	broad.mit.edu	37	8	31014945	31014945	+	Missense_Mutation	SNP	C	T	T	rs146861737		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31014945C>T	uc003xio.3	+	33	4669	c.3881C>T	c.(3880-3882)GCG>GTG	p.A1294V	WRN_uc010lvk.2_Missense_Mutation_p.A761V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1294					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---
GINS4	84296	broad.mit.edu	37	8	41399320	41399320	+	Intron	SNP	C	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41399320C>A	uc003xnx.2	+						GINS4_uc003xny.2_Intron	NM_032336	NP_115712			GINS complex subunit 4						DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)															---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	A	A	rs121913385		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949698	27949698	+	Silent	SNP	G	A	A	rs138682295		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27949698G>A	uc003zqu.1	-	2	1166	c.972C>T	c.(970-972)CGC>CGT	p.R324R	LINGO2_uc010mjf.1_Silent_p.R324R|LINGO2_uc003zqv.1_Silent_p.R324R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324	Extracellular (Potential).|LRR 12.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)														---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95073453	95073453	+	Missense_Mutation	SNP	C	G	G			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95073453C>G	uc004arv.2	-	8	2784	c.2447G>C	c.(2446-2448)AGC>ACC	p.S816T	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.S48T|NOL8_uc011ltw.1_Missense_Mutation_p.S748T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	816					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125281714	125281714	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125281714A>C	uc011lyw.1	+	1	295	c.295A>C	c.(295-297)ACT>CCT	p.T99P		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135000076	135000076	+	Silent	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135000076C>T	uc001llz.1	+	6	1225	c.1224C>T	c.(1222-1224)GCC>GCT	p.A408A	KNDC1_uc001lma.1_Silent_p.A343A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)														---	---	---	---
CCDC34	91057	broad.mit.edu	37	11	27360462	27360462	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27360462G>T	uc001mrh.1	-	6	1082	c.1028C>A	c.(1027-1029)CCT>CAT	p.P343H		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	343											0																		---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118198881	118198881	+	Silent	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118198881C>T	uc001two.2	-	4	889	c.834G>A	c.(832-834)GCG>GCA	p.A278A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	307					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26866506	26866506	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26866506C>T	uc001zaz.2	-	4	558	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31818561	31818561	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31818561G>A	uc001zfq.2	-	6	956	c.863C>T	c.(862-864)ACG>ATG	p.T288M	OTUD7A_uc001zfr.2_Missense_Mutation_p.T295M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	288	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)														---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43102862	43102862	+	Missense_Mutation	SNP	A	G	G			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43102862A>G	uc001zqo.2	-	9	1211	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TTBK2_uc010bcy.2_Missense_Mutation_p.F189L|TTBK2_uc001zqp.2_Missense_Mutation_p.F258L|TTBK2_uc010bcz.1_Missense_Mutation_p.F223L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	258	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)														---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697783	86697783	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86697783G>T	uc002blz.1	+	3	327	c.247G>T	c.(247-249)GCC>TCC	p.A83S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
CDH1	999	broad.mit.edu	37	16	68847277	68847277	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68847277A>T	uc002ewg.1	+	9	1323	c.1199A>T	c.(1198-1200)GAT>GTT	p.D400V	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	400	Cadherin 3.|Extracellular (Potential).		Missing (in a gastric carcinoma sample; loss of heterozygosity).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)|p.T399fs*17(3)|p.D400del(1)|p.D400Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)				Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer				---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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)			---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25936339	25936339	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:25936339G>A	uc010crg.2	+	17	2309	c.1864G>A	c.(1864-1866)GTG>ATG	p.V622M	KSR1_uc002gzm.2_Missense_Mutation_p.V401M|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	757	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	76521203	76521203	+	IGR	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76521203G>A								DNAH17 (52347 upstream) : CYTH1 (148928 downstream)																																			---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5438045	5438045	+	Missense_Mutation	SNP	T	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5438045T>A	uc002kmt.1	-	6	680	c.594A>T	c.(592-594)GAA>GAT	p.E198D	EPB41L3_uc010wzh.1_Missense_Mutation_p.E198D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E198D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E89D|EPB41L3_uc010dks.1_Missense_Mutation_p.E220D|EPB41L3_uc002kmv.1_Missense_Mutation_p.E89D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	198	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
C3	718	broad.mit.edu	37	19	6710823	6710823	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6710823G>A	uc002mfm.2	-	13	1575	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	505					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
INSR	3643	broad.mit.edu	37	19	7132258	7132258	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7132258G>A	uc002mgd.1	-	14	2862	c.2753C>T	c.(2752-2754)CCG>CTG	p.P918L	INSR_uc002mge.1_Missense_Mutation_p.P906L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	918	Fibronectin type-III 3.|Extracellular (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10100039	10100039	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10100039G>T	uc002mmq.1	-	26	2136	c.2050C>A	c.(2050-2052)CAC>AAC	p.H684N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	684	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271685	22271685	+	Missense_Mutation	SNP	G	C	C			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22271685G>C	uc010ecx.2	+	4	1302	c.1133G>C	c.(1132-1134)GGA>GCA	p.G378A	ZNF257_uc010ecy.2_Missense_Mutation_p.G346A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	378	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
DMPK	1760	broad.mit.edu	37	19	46285493	46285493	+	5'Flank	SNP	C	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46285493C>A	uc002pdd.1	-						DMPK_uc010xxs.1_5'Flank|DMPK_uc002pde.1_5'Flank|DMPK_uc002pdf.1_Nonsense_Mutation_p.E40*|DMPK_uc002pdg.1_Nonsense_Mutation_p.E40*|DMPK_uc002pdh.1_Nonsense_Mutation_p.E40*|DMPK_uc002pdi.1_Missense_Mutation_p.R46L|DMPK_uc010xxt.1_Nonsense_Mutation_p.E40*|DMPK_uc010xxu.1_5'Flank	NM_001081563	NP_001075032			myotonic dystrophy protein kinase isoform 1						regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)														---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50249743	50249743	+	Missense_Mutation	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50249743C>T	uc002ppm.2	-	6	987	c.976G>A	c.(976-978)GGC>AGC	p.G326S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	326							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)														---	---	---	---
AURKC	6795	broad.mit.edu	37	19	57746374	57746374	+	Missense_Mutation	SNP	A	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57746374A>T	uc002qoe.2	+	6	896	c.707A>T	c.(706-708)TAT>TTT	p.Y236F	AURKC_uc002qoc.2_Missense_Mutation_p.Y217F|AURKC_uc002qod.2_Missense_Mutation_p.Y202F|AURKC_uc010etv.2_Missense_Mutation_p.Y233F	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	236	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)														---	---	---	---
PRPF6	24148	broad.mit.edu	37	20	62658497	62658497	+	Missense_Mutation	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62658497G>A	uc002yho.2	+	16	2359	c.2191G>A	c.(2191-2193)GCC>ACC	p.A731T	PRPF6_uc002yhp.2_Missense_Mutation_p.A691T	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	731	HAT 8.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32493037	32493037	+	Silent	SNP	G	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32493037G>A	uc002yow.1	-	29	4897	c.4425C>T	c.(4423-4425)CCC>CCT	p.P1475P	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1475					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
SFRS15	57466	broad.mit.edu	37	21	33044158	33044158	+	Missense_Mutation	SNP	A	C	C			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33044158A>C	uc002ypd.2	-	20	3424	c.2998T>G	c.(2998-3000)TTT>GTT	p.F1000V	SFRS15_uc002ype.2_Missense_Mutation_p.F978V|SFRS15_uc010glu.2_Missense_Mutation_p.F985V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1000						nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47549381	47549381	+	Intron	SNP	C	T	T	rs147456161	byFrequency	TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47549381C>T	uc002zia.1	+						COL6A2_uc002zhy.1_3'UTR|COL6A2_uc002zhz.1_Silent_p.P911P|COL6A2_uc002zib.1_Intron|COL6A2_uc002zic.1_Intron|COL6A2_uc010gqe.1_5'Flank	NM_001849	NP_001840			alpha 2 type VI collagen isoform 2C2 precursor						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)														---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48116745	48116745	+	Missense_Mutation	SNP	G	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48116745G>T	uc004djb.1	+	2	160	c.69G>T	c.(67-69)AAG>AAT	p.K23N		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169																		---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279201	105279201	+	Silent	SNP	C	T	T			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105279201C>T	uc004eme.1	-	2	814	c.798G>A	c.(796-798)CTG>CTA	p.L266L	SERPINA7_uc010npd.2_Silent_p.L266L|SERPINA7_uc010npe.1_Silent_p.L266L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	266					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995215	140995215	+	Silent	SNP	T	A	A			TCGA-CD-5799-01	TCGA-CD-5799-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995215T>A	uc004fbt.2	+	4	2311	c.2025T>A	c.(2023-2025)CCT>CCA	p.P675P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	675							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
