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 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr17:27283247C>G ENST00000317338.12 - 16 3310 c.2882G>C c.(2881-2883)cGc>cCc p.R961P SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000335960.6_Silent_p.P493P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 961 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.582000 4 1 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 158 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127737869 127737869 + Missense_Mutation SNP G G A TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr10:127737869G>A ENST00000368679.4 - 16 2188 c.1879C>T c.(1879-1881)Ccg>Tcg p.P627S ADAM12_ENST00000368676.4_Missense_Mutation_p.P627S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 627 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCTGGGTCCGGCATGTCATCG 0.527000 5 220 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|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) 42 82 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 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 49 0.000602214 0.000656961 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299250 125299250 + Missense_Mutation SNP A A T TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chrX:125299250A>T ENST00000538699.1 - 2 738 c.658T>A c.(658-660)Tgg>Agg p.W220R DCAF12L2_ENST00000360028.2_Missense_Mutation_p.W220R NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 220 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TCCATCCGCCACAGAGCCACG 0.632000 20 55 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154197713 154197713 + Missense_Mutation SNP C C T rs137852403 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chrX:154197713C>T ENST00000360256.4 - 7 1102 c.902G>A c.(901-903)cGc>cAc p.R301H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 301 F5/8 type A 1.|Plastocyanin-like 2. R -> C (in HEMA; severe/mild).|R -> H (in HEMA; severe; dbSNP:rs28935216).|R -> L (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGACGCCTGGCGATGGTTCCT 0.458000 12 147 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17758148 17758148 + Missense_Mutation SNP G G A TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr19:17758148G>A ENST00000428389.2 - 18 2233 c.2234C>T c.(2233-2235)aCg>aTg p.T745M UNC13A_ENST00000252773.7_Missense_Mutation_p.T657M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T657M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T657M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T655M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T657M Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 657 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CATCTGCTGCGTGTGCGCCGT 0.622000 6 15 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411861 43411861 + Missense_Mutation SNP G G A TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr21:43411861G>A ENST00000310826.5 - 3 2527 c.2344C>T c.(2344-2346)Cgc>Tgc p.R782C ZBTB21_ENST00000398499.1_Missense_Mutation_p.R782C|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R782C|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R581C NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TTGAAGGTGCGCATGCACTCG 0.517000 5 226 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96019417 96019417 + Missense_Mutation SNP C C T TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr9:96019417C>T ENST00000297954.4 + 10 2378 c.2378C>T c.(2377-2379)cCg>cTg p.P793L WNK2_ENST00000395477.2_Missense_Mutation_p.P793L|WNK2_ENST00000427277.2_Missense_Mutation_p.P405L|WNK2_ENST00000395475.2_Missense_Mutation_p.P727L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P405L Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 793 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CAAGTCCCTCCGCAGGTAATT 0.662000 14 24 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 54 0 0 1 0 0 LRRC39 127495 broad.mit.edu 37 1 100614603 100614603 + Nonsense_Mutation SNP C C A TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr1:100614603C>A ENST00000370137.1 - 10 1201 c.1003G>T c.(1003-1005)Gga>Tga p.G335* TRMT13_ENST00000370141.2_3'UTR|LRRC39_ENST00000342895.3_Nonsense_Mutation_p.G335*|LRRC39_ENST00000370138.1_3'UTR NM_001256386.1|NM_144620.3 NP_001243315.1|NP_653221.1 Q96DD0 LRC39_HUMAN leucine rich repeat containing 39 335 endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 13 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) TTATATTATCCATCCGTATTT 0.318000 3 38 1 1 1 1 0 PMM2 5373 broad.mit.edu 37 16 8906904 8906904 + Nonsense_Mutation SNP C C T TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr16:8906904C>T ENST00000268261.4 + 7 646 c.580C>T c.(580-582)Cga>Tga p.R194* PMM2_ENST00000569958.1_Nonsense_Mutation_p.R103*|PMM2_ENST00000566983.1_Nonsense_Mutation_p.R167*|PMM2_ENST00000539622.1_Nonsense_Mutation_p.R111*|PMM2_ENST00000537352.1_Nonsense_Mutation_p.R69* NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 194 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 ATACTGTCTGCGACATGTGGA 0.453000 6 149 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20796598 20796598 + Missense_Mutation SNP C C T TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr22:20796598C>T ENST00000328879.4 - 7 1823 c.1667G>A c.(1666-1668)cGc>cAc p.R556H KLHL22_ENST00000440659.2_Missense_Mutation_p.R413H NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 556 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCGGCTGCCGCGGTTGTGTGA 0.612000 27 14 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113147089 113147089 + Missense_Mutation SNP G G A TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr2:113147089G>A ENST00000302558.3 - 20 3624 c.3433C>T c.(3433-3435)Cgg>Tgg p.R1145W RGPD8_ENST00000409750.1_Missense_Mutation_p.R1005W NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GCTGCCAACCGCTCTAGTTTG 0.458000 4 226 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 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 49 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 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 48 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169214990 169214990 + Missense_Mutation SNP C C T rs146995893 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr4:169214990C>T ENST00000393743.3 - 7 1121 c.830G>A c.(829-831)cGc>cAc p.R277H NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 277 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TCCTAAAAAGCGATGGTACAT 0.408000 11 117 0 0 1 0 0 C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCG rs72369323 TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr6:43970503_43970504insGCG ENST00000336600.5 + 4 389_390 c.369_370insGCG c.(367-372)cgcggc>cgGCGcggc p.123_124insR C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 123 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 4 9 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 12 39 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 3 5 --- --- --- --- PTPRB 0 broad.mit.edu 37 12 70954544 70954545 + Frame_Shift_Ins INS - - C TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chr12:70954544_70954545insC ENST00000334414.6 - 17 4382_4383 c.4338_4339insG c.(4336-4341)cgttcafs p.S1447fs PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1359fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1139fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.S1446fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1229fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1139fs NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1229 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGCCTTGAAACCGCCACTCCG 0.490 8 40 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129171350 129171351 + Frame_Shift_Del DEL TC TC - TCGA-ET-A40P-01A-11D-A23M-08 TCGA-ET-A40P-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fa3cb4c-2255-4346-9830-761b39c929ac a4bb0a0e-f781-42dd-b6fe-eb216ef56842 g.chrX:129171350_129171351delTC ENST00000540052.1 + 8 4358_4359 c.4314_4315delTC c.(4312-4317)gttcfs p.VL1438fs BCORL1_ENST00000359304.2_Frame_Shift_Del_p.VL1308fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.VL1512fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.VL1438fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1438 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGGATGTTGTTCTCTACTGCCT 0.500 36 62 --- --- --- ---