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 ZNF490 57474 broad.mit.edu 37 19 12692413 12692413 + Missense_Mutation SNP C C A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr19:12692413C>A ENST00000311437.6 - 5 598 c.476G>T c.(475-477)aGt>aTt p.S159I NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCACACACACTGCAGTCACA 0.423000 60 86 4.10029e-35 3.23199e-34 0.000781405 1 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 45 51 0 0 0.00285205 0 0 RAB3D 9545 broad.mit.edu 37 19 11446144 11446144 + Missense_Mutation SNP G G A rs72992916 byFrequency TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr19:11446144G>A ENST00000222120.3 - 4 711 c.451C>T c.(451-453)Cgg>Tgg p.R151W RAB3D_ENST00000589655.1_Missense_Mutation_p.R151W NM_004283.3 NP_004274.1 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 151 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2) 14 GCGAGCCTCCGGCCATCCTCA 0.607000 9 32 0 0 0.000274275 0 0 ZBTB2 57621 broad.mit.edu 37 6 151686819 151686819 + Missense_Mutation SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr6:151686819T>C ENST00000325144.4 - 3 1522 c.1382A>G c.(1381-1383)aAt>aGt p.N461S NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N461S(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) AACAACCTCATTGGGAGTGGA 0.473000 39 44 0 0 0.000814825 0 0 AKAP10 11216 broad.mit.edu 37 17 19835124 19835124 + Silent SNP C C A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr17:19835124C>A ENST00000225737.6 - 10 1792 c.1635G>T c.(1633-1635)gcG>gcT p.A545A AKAP10_ENST00000395536.3_Intron NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 545 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) ATACCTGAGACGCAGAGCTGT 0.483000 18 39 3.52763e-06 2.42412e-05 0.000566183 1 0 GOLGA2B 0 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 5 23 0 0 0.00198382 0 0 LARP4B 23185 broad.mit.edu 37 10 863763 863763 + Missense_Mutation SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr10:863763T>C ENST00000316157.3 - 14 1637 c.1597A>G c.(1597-1599)Agc>Ggc p.S533G NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 533 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GGAGGGAAGCTGGACAGCCCC 0.532000 28 173 0 0 0.000720815 0 0 NUBP1 4682 broad.mit.edu 37 16 10855636 10855636 + Missense_Mutation SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr16:10855636C>T ENST00000283027.5 + 9 759 c.740C>T c.(739-741)cCc>cTc p.P247L NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P236L|TVP23A_ENST00000572980.1_Intron NM_002484.2 NP_002475.2 P53384 NUBP1_HUMAN nucleotide binding protein 1 247 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 ATATTCCCTCCCACAACCGGG 0.517000 4 75 0 0 0.00116845 0 0 OTP 23440 broad.mit.edu 37 5 76932745 76932745 + Silent SNP G G A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr5:76932745G>A ENST00000306422.3 - 2 1486 c.348C>T c.(346-348)ctC>ctT p.L116L OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CCAACTCGTTGAGCTGTGCGG 0.667000 92 97 0 0 0.000781405 0 0 ANK1 286 broad.mit.edu 37 8 41546095 41546095 + Missense_Mutation SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr8:41546095C>T ENST00000396942.1 - 34 4200 c.4117G>A c.(4117-4119)Gaa>Aaa p.E1373K ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1373K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1373 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCTATCTTCGGCTCCACTT 0.567000 20 18 0 0 0.00121646 0 0 SEC24D 9871 broad.mit.edu 37 4 119718931 119718931 + Silent SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr4:119718931T>C ENST00000379735.5 - 8 1222 c.951A>G c.(949-951)acA>acG p.T317T SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.T316T NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 316 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GAAAACAGTATGTTGTACAAC 0.388000 10 32 0 0 0.000442599 0 0 MIR3654 0 broad.mit.edu 37 11 62344744 62344744 + Missense_Mutation SNP G G C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr11:62344744G>C ENST00000496634.2 - 6 1225 c.1180C>G c.(1180-1182)Cgt>Ggt p.R394G TUT1_ENST00000476907.1_Missense_Mutation_p.R394G|TUT1_ENST00000308436.7_Missense_Mutation_p.R432G NS(1) 1 CTCAGGAAACGGGAGTTATGC 0.602000 20 15 0 0 0.00121646 0 0 IRAK3 0 broad.mit.edu 37 12 66639013 66639013 + Missense_Mutation SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr12:66639013C>T ENST00000261233.4 + 11 1706 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W IRAK3_ENST00000457197.2_Missense_Mutation_p.R368W NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 429 Protein kinase. R -> Q (may be associated with ASRT5). interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TGCTGCAACGCGGGCAAAGTT 0.438000 68 79 0 0 0.000781405 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161609 90161609 + RNA SNP A A G rs139928438 by1000genomes TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr16:90161609A>G ENST00000567960.1 + 0 345 TUBB8P7_ENST00000564451.1_RNA TGATGGAGTCAGTGATGGACG 0.617000 3 71 0 0 6.4e-05 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698292 70698292 + Missense_Mutation SNP A A C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr16:70698292A>C ENST00000338779.6 - 15 1806 c.1532T>G c.(1531-1533)tTt>tGt p.F511C FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 511 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TGACTTGTCAAACTCGGGCGG 0.667000 27 15 0 0 0.000720815 0 0 CSMD3 114788 broad.mit.edu 37 8 114326991 114326991 + Silent SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr8:114326991T>C ENST00000297405.5 - 2 454 c.210A>G c.(208-210)aaA>aaG p.K70K CSMD3_ENST00000455883.2_Silent_p.K70K|CSMD3_ENST00000352409.3_Silent_p.K70K|CSMD3_ENST00000343508.3_Silent_p.K30K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 70 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTAAGTCCTTTTAAAGTTC 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 147 0 0 6.4e-05 0 0 IGFN1 91156 broad.mit.edu 37 1 201182494 201182494 + Missense_Mutation SNP G G T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr1:201182494G>T ENST00000335211.4 + 12 8603 c.8473G>T c.(8473-8475)Gct>Tct p.A2825S IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR 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 ACAGTCAGGGGCTGAGGTTGG 0.622000 10 13 2.17888e-05 0.000145985 0.000442599 1 0 IGHV3-9 0 broad.mit.edu 37 14 106552433 106552433 + RNA SNP C C A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr14:106552433C>A ENST00000390600.2 - 0 285 CCAACTAATACCTGAGACCCA 0.532000 20 147 2.94398e-08 2.07628e-07 0.000958276 1 0 PCDH20 64881 broad.mit.edu 37 13 61986868 61986868 + Missense_Mutation SNP G G T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr13:61986868G>T ENST00000409186.1 - 5 3469 c.1364C>A c.(1363-1365)aCc>aAc p.T455N PCDH20_ENST00000409204.4_Missense_Mutation_p.T455N Q8N6Y1 PCD20_HUMAN protocadherin 20 428 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ATCTCTTATGGTGAAAAACGC 0.408000 42 46 3.61848e-18 2.69376e-17 0.00170553 1 0 IGHV3-53 0 broad.mit.edu 37 14 107048673 107048673 + RNA SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr14:107048673C>T ENST00000390627.2 - 0 567 CACTGTGTCTCTCGCACAGTA 0.567000 7 84 0 0 0.000274275 0 0 ECHDC2 55268 broad.mit.edu 37 1 53377423 53377423 + Missense_Mutation SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr1:53377423T>C ENST00000536120.1 - 5 840 c.23A>G c.(22-24)aAt>aGt p.N8S ECHDC2_ENST00000358358.5_Missense_Mutation_p.N54S|ECHDC2_ENST00000371522.4_Missense_Mutation_p.N54S|ECHDC2_ENST00000541281.1_Missense_Mutation_p.N8S|ECHDC2_ENST00000480312.2_5'UTR Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 54 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 CCCCAAGGCATTGCGGGCAGA 0.592000 39 38 0 0 0.00195071 0 0 BLMH 642 broad.mit.edu 37 17 28599594 28599594 + Missense_Mutation SNP A A T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr17:28599594A>T ENST00000261714.6 - 9 1187 c.1013T>A c.(1012-1014)cTc>cAc p.L338H BLMH_ENST00000394819.3_Missense_Mutation_p.L251H NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 338 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 CATGTCACTGAGGCCCAGCTT 0.438000 129 155 0 0 0.000781405 0 0 IRS1 3667 broad.mit.edu 37 2 227661796 227661796 + Missense_Mutation SNP C C A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr2:227661796C>A ENST00000305123.4 - 1 2679 c.1659G>T c.(1657-1659)gaG>gaT p.E553D NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 553 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CAGGCATCATCTCTGTGTACT 0.622000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 50 3.21987e-24 2.4655e-23 0.000781405 1 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 11 0 0 6.4e-05 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004780 52004780 + Missense_Mutation SNP C C G TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr19:52004780C>G ENST00000291707.3 - 1 263 c.208G>C c.(208-210)Gta>Cta p.V70L NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 70 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTCCGGCTTACATGGTCCCCT 0.587000 55 61 0 0 0.000781405 0 0 UBASH3B 84959 broad.mit.edu 37 11 122659945 122659945 + Silent SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr11:122659945C>T ENST00000284273.5 + 6 1284 c.909C>T c.(907-909)acC>acT p.T303T NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 303 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CCTTAACCACCGGCTGCTCTG 0.522000 32 188 0 0 0.00178596 0 0 COBL 23242 broad.mit.edu 37 7 51096572 51096572 + Missense_Mutation SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr7:51096572T>C ENST00000395542.2 - 12 2651 c.2467A>G c.(2467-2469)Agt>Ggt p.S823G COBL_ENST00000265136.7_Missense_Mutation_p.S741G O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 741 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCGTGAGGACTCACCAAGTTC 0.507000 43 37 0 0 0.0025221 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 147 0 0 0.000602214 0 0 ZNF227 7770 broad.mit.edu 37 19 44739570 44739570 + Silent SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr19:44739570C>T ENST00000313040.7 + 6 1192 c.987C>T c.(985-987)tgC>tgT p.C329C ZNF227_ENST00000391961.2_Silent_p.C278C|ZNF227_ENST00000589005.1_Silent_p.C278C NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GCGACAGTTGCGGCAAGGGAT 0.393000 25 43 0 0 0.00047179 0 0 RNF19B 127544 broad.mit.edu 37 1 33415316 33415316 + Missense_Mutation SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr1:33415316C>T ENST00000356990.5 - 2 694 c.695G>A c.(694-696)gGt>gAt p.G232D RNF19B_ENST00000235150.4_Missense_Mutation_p.G232D|RNF19B_ENST00000373456.7_Missense_Mutation_p.G232D NM_001127361.1 NP_001120833.1 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 232 integral to membrane ligase activity|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGTCTGGCAACCTTCCCTCTC 0.488000 39 31 0 0 0.00111076 0 0 RORB 6096 broad.mit.edu 37 9 77257585 77257585 + Missense_Mutation SNP C C T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr9:77257585C>T ENST00000376896.2 + 4 1103 c.491C>T c.(490-492)tCc>tTc p.S164F RORB_ENST00000396204.2_Missense_Mutation_p.S175F NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 175 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGTCAGCCGTCCCCTGATCAG 0.493000 28 40 0 0 0.000878237 0 0 CAMK2A 815 broad.mit.edu 37 5 149669141 149669141 + Silent SNP G G A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr5:149669141G>A ENST00000348628.6 - 1 713 c.48C>T c.(46-48)ttC>ttT p.F16F CAMK2A_ENST00000398376.3_Silent_p.F16F NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 16 Protein kinase. interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAATTCCTCGAAGAGCTGGT 0.632000 43 37 0 0 0.000781405 0 0 TG 7038 broad.mit.edu 37 8 133900509 133900510 + Frame_Shift_Ins INS - - T TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr8:133900509_133900510insT ENST00000220616.4 + 10 2497_2498 c.2457_2458insT c.(2455-2460)ctttatfs p.Y820fs TG_ENST00000377869.1_Frame_Shift_Ins_p.Y820fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 820 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACTTCAGTCTCTTTATTCAAAG 0.515 34 50 --- --- --- --- ATRNL1 26033 broad.mit.edu 37 10 117226764 117226765 + Splice_Site INS - - A TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr10:117226764_117226765insA ENST00000355044.3 + 23 3622 c.e23+2 ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GTTCAACAGGTAAAAAAATGTT 0.287 2 4 --- --- --- --- PAN3 255967 broad.mit.edu 37 13 28713125 28713125 + Frame_Shift_Del DEL C C - TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr13:28713125delC ENST00000380958.3 + 1 483 c.331delC c.(331-333)ccfs p.P112fs NM_175854.7 NP_787050.6 Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 112 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGCTGGGCCGCCCCCCGGGCC 0.771 2 4 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 2 4 --- --- --- --- RP11-640N20.9 0 broad.mit.edu 37 17 30439692 30439693 + RNA INS - - GAGGC rs150029068 by1000genomes TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr17:30439692_30439693insGAGGC ENST00000580412.1 - 0 43 GGGCCAGCGCTGAGGCCGCCGC 0.589 4 5 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2337757 2337757 + RNA DEL G G - TCGA-EM-A2CM-01A-11D-A17V-08 TCGA-EM-A2CM-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38326783-dcfb-406b-8c84-137e909da09f 283aa2e1-e1f6-444c-b64d-9c1571247c1b g.chr19:2337757delG ENST00000452401.2 + 0 449 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) 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) GGGAGGATCTGGGCCGAGTGT 0.637 3 3 --- --- --- ---