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 pox qox pox_cutoff isArtifactMode oxoGCut ZNF461 92283 broad.mit.edu 37 19 37129608 37129608 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:37129608C>T ENST00000588268.1 - 6 1866 c.1639G>A c.(1639-1641)Gag>Aag p.E547K ZNF461_ENST00000360357.4_Missense_Mutation_p.E524K|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ACTGGCTTCTCGCCAGTATGA 0.383000 3 27 0 0 0.150653 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38345558 38345558 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:38345558C>G ENST00000436615.3 + 6 917 c.427C>G c.(427-429)Ctt>Gtt p.L143V RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L192V|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.L198V|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L143V NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 349 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GACGGAGAAACTTCAATATTC 0.552000 54 185 0 0 0.870114 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 59 0 0 0.184627 0 0 IGFN1 91156 broad.mit.edu 37 1 201183351 201183351 + Silent SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:201183351G>A ENST00000335211.4 + 13 8905 c.8775G>A c.(8773-8775)caG>caA p.Q2925Q IGFN1_ENST00000295591.8_Silent_p.Q85Q|IGFN1_ENST00000451870.2_Silent_p.Q468Q NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGGAAGTGCAGCCGGGGGAGG 0.657000 10 28 0 0 0.335167 0 0 ACSL3 2181 broad.mit.edu 37 2 223789308 223789308 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:223789308C>T ENST00000357430.3 + 11 1818 c.1287C>T c.(1285-1287)tgC>tgT p.C429C ACSL3_ENST00000392066.3_Silent_p.C429C NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 429 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) CTCCACTGTGCGACAGGTAAG 0.323000 T ETV1 prostate 3 54 0 0 0.115264 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 37 0.00909568 0.00971584 0.150653 1 0 C3orf67 200844 broad.mit.edu 37 3 58849302 58849302 + Silent SNP G G T rs148755922 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr3:58849302G>T ENST00000472469.1 - 11 1759 c.921C>A c.(919-921)ggC>ggA p.G307G RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Silent_p.G400G|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Silent_p.G400G Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 400 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TGCTGTCGCCGCCGTAAAAAT 0.423000 6 35 0.00198382 0.00216836 0.248553 1 0 TRIP11 9321 broad.mit.edu 37 14 92471796 92471796 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr14:92471796C>T ENST00000267622.4 - 11 2897 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 842 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTAAAATTTCATTTTTTCTT 0.333000 T PDGFRB AML 5 74 0 0 0.217242 0 0 SRCAP 10847 broad.mit.edu 37 16 30744989 30744989 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr16:30744989G>A ENST00000262518.4 + 29 6749 c.6364G>A c.(6364-6366)Ggt>Agt p.G2122S SRCAP_ENST00000395059.2_Missense_Mutation_p.G2060S|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1964S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2122 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCGGAGTGGGGGTGTGGGCGT 0.502000 10 114 0 0 0.387290 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472833 66472833 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:66472833C>T ENST00000533211.1 - 15 2245 c.1914G>A c.(1912-1914)gaG>gaA p.E638E SPTBN2_ENST00000529997.1_Silent_p.E638E|SPTBN2_ENST00000309996.2_Silent_p.E638E O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 638 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCCGTGATTCCTCCAGCCGGG 0.697000 5 33 0 0 0.217242 0 0 MTBP 27085 broad.mit.edu 37 8 121457748 121457748 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr8:121457748G>A ENST00000305949.1 + 1 83 c.38G>A c.(37-39)gGa>gAa p.G13E NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 13 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TGGGGGGAAGGAAAATTCCCG 0.582000 11 89 0 0 0.387290 0 0 UBN1 29855 broad.mit.edu 37 16 4924499 4924499 + Silent SNP T T G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr16:4924499T>G ENST00000396658.4 + 14 2791 c.2088T>G c.(2086-2088)ccT>ccG p.P696P UBN1_ENST00000545171.1_Silent_p.P696P|UBN1_ENST00000590769.1_Silent_p.P696P|UBN1_ENST00000262376.6_Silent_p.P696P NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 696 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TCACACTGCCTGCACCCTCAA 0.498000 26 266 0 0 0.729181 0 0 PTPN21 11099 broad.mit.edu 37 14 88945377 88945377 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr14:88945377C>G ENST00000556564.1 - 13 2682 c.2398G>C c.(2398-2400)Gac>Cac p.D800H PTPN21_ENST00000328736.3_Missense_Mutation_p.D800H NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 800 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GTGGTGAGGTCGGACTCCGAC 0.647000 8 62 0 0 0.278610 0 0 RGPD3 653489 broad.mit.edu 37 2 107040372 107040372 + Missense_Mutation SNP C C G rs140333629 by1000genomes TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:107040372C>G ENST00000409886.3 - 20 4138 c.4051G>C c.(4051-4053)Gag>Cag p.E1351Q RGPD3_ENST00000304514.7_Missense_Mutation_p.E1351Q NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1351 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCATTTTCCTCACCACTGGAT 0.378000 7 279 0 0 0.248553 0 0 OTOP3 347741 broad.mit.edu 37 17 72938090 72938090 + Silent SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:72938090C>T ENST00000328801.4 + 3 585 c.585C>T c.(583-585)gaC>gaT p.D195D NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 195 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CACAGCTGGACCTTGTCTTCT 0.567000 4 41 0 0 0.150653 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 58 0 0 0.115264 0 0 SGK223 0 broad.mit.edu 37 8 8176174 8176174 + Silent SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr8:8176174G>A ENST00000520004.1 - 6 3975 c.3711C>T c.(3709-3711)ccC>ccT p.P1237P SGK223_ENST00000330777.4_Silent_p.P1237P Q86YV5 SG223_HUMAN 1237 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity ACACGATCTCGGGGGCCAGCC 0.612000 3 30 0 0 0.115264 0 0 THEG 51298 broad.mit.edu 37 19 371211 371211 + Missense_Mutation SNP C C T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:371211C>T ENST00000342640.4 - 6 789 c.747G>A c.(745-747)atG>atA p.M249I THEG_ENST00000346878.2_Missense_Mutation_p.M225I NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 249 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCTCAGACATGGGCATGC 0.642000 26 147 0 0 0.681144 0 0 CDC42 998 broad.mit.edu 37 1 22412941 22412941 + Missense_Mutation SNP A A T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:22412941A>T ENST00000344548.3 + 5 439 c.188A>T c.(187-189)gAt>gTt p.D63V CDC42_ENST00000315554.8_Missense_Mutation_p.D63V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.D105V|CDC42_ENST00000400259.1_Missense_Mutation_p.D63V NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 63 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GGGCAAGAGGATTATGACAGA 0.373000 14 69 0 0 0.500413 0 0 VMO1 284013 broad.mit.edu 37 17 4689488 4689488 + Missense_Mutation SNP G G A rs147226483 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:4689488G>A ENST00000328739.5 - 1 239 c.160C>T c.(160-162)Ccc>Tcc p.P54S VMO1_ENST00000441199.2_Missense_Mutation_p.P54S|VMO1_ENST00000416307.2_Missense_Mutation_p.P54S|VMO1_ENST00000354194.4_Missense_Mutation_p.P54S NM_182566.2 NP_872372.1 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 homolog (chicken) 54 vitelline membrane formation extracellular region kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1) 11 AATCCATCGGGACACATCTCA 0.622000 8 32 0 0 0.307466 0 0 DLG5 9231 broad.mit.edu 37 10 79581669 79581669 + Missense_Mutation SNP G G T TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr10:79581669G>T ENST00000372391.2 - 15 2578 c.2573C>A c.(2572-2574)cCa>cAa p.P858Q DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 858 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGGGGGGCCTGGCTCCTTCCT 0.592000 10 94 1.08611e-07 1.27618e-07 0.387290 1 0 ZNF585B 92285 broad.mit.edu 37 19 37676134 37676134 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr19:37676134C>G ENST00000532828.2 - 5 2556 c.2305G>C c.(2305-2307)Gct>Cct p.A769P CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A714P|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.A357P NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 769 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCTCTCAAGCGTGGCTGCTC 0.448000 8 91 0 0 0.278610 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 44 0 0 0.150653 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 36 0 0 0.150653 0 0 XXYLT1 152002 broad.mit.edu 37 3 194991296 194991296 + Silent SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr3:194991296G>A ENST00000310380.6 - 1 600 c.492C>T c.(490-492)ggC>ggT p.G164G NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 164 integral to membrane transferase activity, transferring glycosyl groups TGCACTTGAAGCCAGCGGCGG 0.711000 3 6 0 0 0.115264 0 0 SPAG9 9043 broad.mit.edu 37 17 49052246 49052246 + Missense_Mutation SNP C C G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:49052246C>G ENST00000262013.7 - 28 3794 c.3586G>C c.(3586-3588)Gaa>Caa p.E1196Q SPAG9_ENST00000505279.1_Missense_Mutation_p.E1186Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E1182Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.E1052Q NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1196 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TCACTGTTTTCATCACCATAT 0.418000 5 61 0 0 0.184627 0 0 TFPI 7035 broad.mit.edu 37 2 188332580 188332580 + Silent SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:188332580A>G ENST00000233156.3 - 7 1002 c.708T>C c.(706-708)aaT>aaC p.N236N TFPI_ENST00000392365.1_Silent_p.N236N|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 236 BPTI/Kunitz inhibitor 3. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) CAATGACTGAATTGTAGTAGA 0.413000 17 69 0 0 0.592651 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 5 46 0 0 0.217242 0 0 IMPDH2 3615 broad.mit.edu 37 3 49064023 49064023 + Missense_Mutation SNP G G C TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr3:49064023G>C ENST00000326739.4 - 8 878 c.839C>G c.(838-840)tCc>tGc p.S280C NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 280 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CTGGAAGATGGAATTTCCCTG 0.468000 5 78 0 0 0.248553 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 38 0 0 0.150653 0 0 POSTN 10631 broad.mit.edu 37 13 38166263 38166263 + Missense_Mutation SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr13:38166263A>G ENST00000379747.4 - 3 374 c.257T>C c.(256-258)aTg>aCg p.M86T POSTN_ENST00000379743.4_Missense_Mutation_p.M86T|POSTN_ENST00000379749.4_Missense_Mutation_p.M86T|POSTN_ENST00000541481.1_Missense_Mutation_p.M86T|POSTN_ENST00000541179.1_Missense_Mutation_p.M86T|POSTN_ENST00000379742.4_Missense_Mutation_p.M86T NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 86 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CATTCCTTCCATTCTCATATA 0.333000 4 45 0 0 0.184627 0 0 CTDP1 9150 broad.mit.edu 37 18 77474796 77474796 + Missense_Mutation SNP A A G TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr18:77474796A>G ENST00000299543.7 + 8 1483 c.1336A>G c.(1336-1338)Acg>Gcg p.T446A CTDP1_ENST00000075430.7_Missense_Mutation_p.T446A NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 446 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CCAGGGTGCCACGGGCACTGA 0.677000 4 8 0 0 0.184627 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 56 0 0 0.500413 0 0 CHEK1 1111 broad.mit.edu 37 11 125513996 125513996 + Missense_Mutation SNP G G A rs34097480 TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:125513996G>A ENST00000534070.1 + 10 1189 c.934G>A c.(934-936)Gtg>Atg p.V312M CHEK1_ENST00000427383.2_Missense_Mutation_p.V328M|CHEK1_ENST00000438015.1_Missense_Mutation_p.V312M|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.V312M|CHEK1_ENST00000524737.1_Missense_Mutation_p.V312M|CHEK1_ENST00000278916.3_Missense_Mutation_p.V312M|CHEK1_ENST00000544373.1_Missense_Mutation_p.V312M NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 312 V -> M (in dbSNP:rs34097480). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGAAGAAAATGTGAAGTACTC 0.388000 Other conserved DNA damage response genes 8 96 0 0 0.278610 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431736 56431736 + Missense_Mutation SNP C C A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:56431736C>A ENST00000302969.2 + 1 599 c.575C>A c.(574-576)aCc>aAc p.T192N NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGCTCAGACACCTACATCAGT 0.453000 22 150 0.00152264 0.00174547 0.592651 1 0 MGAT5B 146664 broad.mit.edu 37 17 74869018 74869018 + Missense_Mutation SNP G G A TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr17:74869018G>A ENST00000569840.2 + 2 728 c.154G>A c.(154-156)Gac>Aac p.D52N MGAT5B_ENST00000428789.2_Missense_Mutation_p.D63N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D52N|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Missense_Mutation_p.D52N NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 52 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCGCCTGGGGGACTCGCCATT 0.602000 16 78 0 0 0.500413 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142393652 142393652 + Missense_Mutation SNP A A C TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr5:142393652A>C ENST00000378004.3 + 12 1470 c.1115A>C c.(1114-1116)aAc>aCc p.N372T ARHGAP26_ENST00000274498.4_Missense_Mutation_p.N372T NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 372 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGGTCTACAACTCGAACAAA 0.423000 15 53 0 0 0.457914 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74665386 74665397 + In_Frame_Del DEL GCAATAACAGCG GCAATAACAGCG - rs146866661 by1000genomes TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr1:74665386_74665397delGCAATAACAGCG ENST00000370895.1 + 2 156_167 c.121_132delGCAATAACAGCG c.(121-132)del p.AITA41del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000370894.4_In_Frame_Del_p.AITA41del|FPGT_ENST00000524915.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000534056.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000482102.2_In_Frame_Del_p.AITA63del|TNNI3K_ENST00000370893.1_In_Frame_Del_p.AITA41del|FPGT_ENST00000467578.2_In_Frame_Del_p.AITA41del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.AITA41del|FPGT_ENST00000370898.2_In_Frame_Del_p.AITA41del|FPGT-TNNI3K_ENST00000370899.3_In_Frame_Del_p.AITA41del Q59H18 TNI3K_HUMAN 0 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GGACATAGTTGCAATAACAGCGGCTGATGAAA 0.392 15 63 --- --- --- --- TGOLN2 10618 broad.mit.edu 37 2 85552043 85552043 + Frame_Shift_Del DEL G G - TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr2:85552043delG ENST00000377386.3 - 3 1765 c.1303delC c.(1303-1305)agfs p.Q435fs TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.Q377fs|TGOLN2_ENST00000282120.2_Frame_Shift_Del_p.Q279fs|TGOLN2_ENST00000409232.3_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.Q435fs O43493 TGON2_HUMAN trans-golgi network protein 2 435 integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTTACCTTCTGGTCCAAACGT 0.502 2 4 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 7 86 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-ET-A3BV-01A-11D-A19J-08 TCGA-ET-A3BV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a91d8c86-def8-41d7-b05e-d94b9c9303ac 21a53d88-27f7-4d6a-8667-cdb3580062eb g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 3 6 --- --- --- ---