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 Tumor_Sample_UUID Matched_Norm_Sample_UUID 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 ref_context gc_content 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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample AHDC1 27245 broad.mit.edu 37 1 27874814 27874814 + Silent SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr1:27874814C>T ENST00000374011.2 - 6 4781 c.3813G>A c.(3811-3813)ccG>ccA p.P1271P AHDC1_ENST00000247087.5_Silent_p.P1271P NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1271 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GTCCACCTCGCGGCTGCCGGG 0.677 29 105 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109803759 109803759 + Missense_Mutation SNP A A G TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr1:109803759A>G ENST00000271332.3 + 3 4115 c.4054A>G c.(4054-4056)Aag>Gag p.K1352E NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1352 EGF-like 3; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGGCGGTTTCAAGTGCGATTG 0.627 34 130 --- --- --- --- CSDE1 7812 broad.mit.edu 37 1 115262240 115262240 + Missense_Mutation SNP G G A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr1:115262240G>A ENST00000438362.2 - 18 2692 c.2314C>T c.(2314-2316)Cgc>Tgc p.R772C CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 726 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGCCAGTGCGCTGATTAAGA 0.453 7 101 --- --- --- --- KIAA1614 57710 broad.mit.edu 37 1 180885314 180885314 + Silent SNP A A G TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr1:180885314A>G ENST00000367588.4 + 2 130 c.75A>G c.(73-75)acA>acG p.T25T NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 25 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GGAGTGGAACAGCCAGCCCCG 0.617 11 52 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230724288 230724288 + Missense_Mutation SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr2:230724288C>A ENST00000283943.5 - 3 279 c.101G>T c.(100-102)aGc>aTc p.S34I TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I|TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 34 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGAACTGCAGCTTCTAAGAGG 0.373 4 118 --- --- --- --- BCL6 604 broad.mit.edu 37 3 187447232 187447232 + Missense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr3:187447232C>T ENST00000406870.2 - 5 1327 c.961G>A c.(961-963)Gca>Aca p.A321T RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 321 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TTCAGGGGTGCATTGGGGGGC 0.572 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 8 131 --- --- --- --- TMEM192 201931 broad.mit.edu 37 4 166009709 166009709 + Missense_Mutation SNP G G A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr4:166009709G>A ENST00000306480.6 - 4 630 c.485C>T c.(484-486)cCa>cTa p.P162L TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L NM_001100389.1 NP_001093859.1 Q8IY95 TM192_HUMAN transmembrane protein 192 Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0926) GCCAGGCTCTGGGAAGGAGTG 0.453 4 27 --- --- --- --- ADAMTS19 171019 broad.mit.edu 37 5 129037257 129037257 + Missense_Mutation SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr5:129037257C>A ENST00000274487.4 + 20 3258 c.3113C>A c.(3112-3114)aCc>aAc p.T1038N ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1038 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GACTGCATGACCGTGTGGGAG 0.567 14 85 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131630515 131630515 + Missense_Mutation SNP T T A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr5:131630515T>A ENST00000200652.3 + 1 380 c.206T>A c.(205-207)cTg>cAg p.L69Q P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 69 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) AGTGTCCCGCTGCGGCTGCGG 0.726 8 15 --- --- --- --- PCDHA6 56142 broad.mit.edu 37 5 140208013 140208013 + Missense_Mutation SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr5:140208013C>A ENST00000529310.1 + 1 451 c.337C>A c.(337-339)Ccg>Acg p.P113T PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGACAGGCCGCTGCAGGT 0.562 22 218 --- --- --- --- TRIM31 11074 broad.mit.edu 37 6 30071498 30071498 + Missense_Mutation SNP A A C TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr6:30071498A>C ENST00000376734.3 - 9 1218 c.1093T>G c.(1093-1095)Tcg>Gcg p.S365A TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 365 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 CCAGCAGACGAGGCCCGAAAC 0.527 14 139 --- --- --- --- MAP3K5 4217 broad.mit.edu 37 6 136990479 136990479 + Silent SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr6:136990479C>A ENST00000359015.4 - 8 1668 c.1308G>T c.(1306-1308)gcG>gcT p.A436A NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 436 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GGAGGAGGACCGCATAATTAA 0.378 28 109 --- --- --- --- TBX20 57057 broad.mit.edu 37 7 35242247 35242247 + Missense_Mutation SNP G G A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr7:35242247G>A ENST00000408931.3 - 8 1665 c.1139C>T c.(1138-1140)cCt>cTt p.P380L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 380 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GATGGGGTGAGGAATGGGTGT 0.562 7 66 --- --- --- --- PRSS58 136541 broad.mit.edu 37 7 141952337 141952337 + Missense_Mutation SNP A A T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr7:141952337A>T ENST00000552471.1 - 4 850 c.531T>A c.(529-531)aaT>aaA p.N177K PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K Q8IYP2 PRS58_HUMAN protease, serine, 58 177 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 CACACAGCATATTTTCCGTGA 0.448 7 148 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12148384 12148384 + Missense_Mutation SNP T T G TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr10:12148384T>G ENST00000263035.4 + 11 2098 c.2036T>G c.(2035-2037)tTc>tGc p.F679C NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 679 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTTGACACATTCATCTCTGGA 0.537 13 196 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105361687 105361687 + Silent SNP C C A rs146300680 TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr10:105361687C>A ENST00000369774.4 - 15 3564 c.3288G>T c.(3286-3288)gtG>gtT p.V1096V SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 1096 SH3 5. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CCTCCATGGACACCCCCTCCT 0.537 22 105 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92086069 92086069 + Missense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr11:92086069C>T ENST00000298047.6 + 1 808 c.791C>T c.(790-792)cCa>cTa p.P264L FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 264 Cadherin 2.|Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAACATGCCCCAACAATCCAT 0.443 TCGA Ovarian(4;0.039) 18 109 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39265996 39265996 + Missense_Mutation SNP C C A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr13:39265996C>A ENST00000280481.7 + 1 4731 c.4515C>A c.(4513-4515)gaC>gaA p.D1505E NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1505 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGAAAATGGACAGTTTTGAGT 0.468 4 111 --- --- --- --- EIF5 1983 broad.mit.edu 37 14 103807368 103807368 + Silent SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr14:103807368C>T ENST00000216554.3 + 12 1951 c.1275C>T c.(1273-1275)gaC>gaT p.D425D EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D NM_001969.4 NP_001960.2 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 425 Asp-rich (acidic). regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity p.D425fs*>5(1) breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) AGGATGACGACATCGATATTG 0.398 6 80 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 703785 703785 + Silent SNP G G A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr16:703785G>A ENST00000549091.1 + 13 1511 c.1419G>A c.(1417-1419)aaG>aaA p.K473K WDR90_ENST00000293879.4_Silent_p.K473K NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 473 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GGGTTGGCAAGGACCACCACG 0.642 3 77 --- --- --- --- SEPHS2 22928 broad.mit.edu 37 16 30456579 30456579 + Missense_Mutation SNP T T A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr16:30456579T>A ENST00000478753.2 - 1 923 c.470A>T c.(469-471)aAc>aTc p.N157I SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I Q99611 SPS2_HUMAN selenophosphate synthetase 2 157 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ACTCAGCACGTTGGCACAAGC 0.542 16 92 --- --- --- --- CTC1 80169 broad.mit.edu 37 17 8138502 8138502 + Silent SNP A A C TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr17:8138502A>C ENST00000315684.8 - 8 1315 c.1308T>G c.(1306-1308)cgT>cgG p.R436R NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 436 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 CAGGCTTCTGACGAGAGAAGC 0.622 14 91 --- --- --- --- CTC1 80169 broad.mit.edu 37 17 8138518 8138518 + Missense_Mutation SNP A A C TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr17:8138518A>C ENST00000315684.8 - 8 1299 c.1292T>G c.(1291-1293)cTt>cGt p.L431R NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 431 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GAAGCTTTGAAGCAGAACGGC 0.617 18 93 --- --- --- --- MAP2K4 6416 broad.mit.edu 37 17 12032526 12032526 + Missense_Mutation SNP T T A TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr17:12032526T>A ENST00000415385.3 + 10 1048 c.995T>A c.(994-996)gTg>gAg p.V332E MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E NM_001281435.1 NP_001268364.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 321 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) ACACAAGTCGTGAAAGGAGAT 0.413 """D, Mis, N""" """pancreatic, breast, colorectal""" 14 62 --- --- --- --- GAST 2520 broad.mit.edu 37 17 39871695 39871695 + Nonsense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr17:39871695C>T ENST00000329402.3 + 2 74 c.7C>T c.(7-9)Cga>Tga p.R3* JUP_ENST00000540235.1_Intron NM_000805.4 NP_000796.1 P01350 GAST_HUMAN gastrin 3 R -> P (in dbSNP:rs34309618). extracellular region hormone activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) CGAGATGCAGCGACTGTGTGT 0.592 42 342 --- --- --- --- TXNL1 9352 broad.mit.edu 37 18 54278306 54278306 + Missense_Mutation SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr18:54278306C>T ENST00000217515.6 - 7 962 c.758G>A c.(757-759)gGt>gAt p.G253D TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 253 PITH. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) TTCCTCTTCACCTTGATTCGA 0.294 9 41 --- --- --- --- CYP2B6 1555 broad.mit.edu 37 19 41512860 41512860 + Missense_Mutation SNP A A G TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr19:41512860A>G ENST00000324071.4 + 4 542 c.535A>G c.(535-537)Atc>Gtc p.I179V CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 179 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CGCCAACATCATCTGCTCCAT 0.498 3 42 --- --- --- --- PRKCG 5582 broad.mit.edu 37 19 54395835 54395835 + Silent SNP C C T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr19:54395835C>T ENST00000263431.3 + 7 1041 c.759C>T c.(757-759)aaC>aaT p.N253N PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 253 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCTCCCGCAACGACTTCATGG 0.672 8 37 --- --- --- --- SNAI1 6615 broad.mit.edu 37 20 48600754 48600754 + Missense_Mutation SNP G G T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr20:48600754G>T ENST00000244050.2 + 2 537 c.476G>T c.(475-477)tGc>tTc p.C159F NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 159 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TGCAAATACTGCAACAAGGAA 0.602 3 34 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42609619 42609619 + Missense_Mutation SNP G G T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr22:42609619G>T ENST00000359486.3 - 1 1829 c.1693C>A c.(1693-1695)Cag>Aag p.Q565K TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTTCATTCTGAGCACCTTGT 0.582 4 66 --- --- --- --- ATM 472 broad.mit.edu 37 11 108121643 108121643 + Frame_Shift_Del DEL G G - TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9221a776-a241-48a2-b486-98902a8628f8 2ef588a2-879b-49c7-b880-227f72467804 g.chr11:108121643delG ENST00000278616.4 + 10 1836 c.1451delG c.(1450-1452)tggfs p.W484fs ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 484 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTAAAACTCTGGAATAAAATT 0.373 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 15 54 --- --- --- ---