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 TP53 7157 broad.mit.edu 37 17 7577142 7577142 + Missense_Mutation SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr17:7577142C>T ENST00000420246.2 - 8 928 c.796G>A c.(796-798)Gga>Aga p.G266R TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTGTTCCGTCCCAGTAGATTA 0.517000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 0 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94056997 94056997 + Missense_Mutation SNP A A G TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr7:94056997A>G ENST00000297268.6 + 49 3797 c.3326A>G c.(3325-3327)gAc>gGc p.D1109G NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1109 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTGGTTATGACTTTGGTTAC 0.532000 HNSCC(75;0.22) 32 57 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909445 123909445 + Silent SNP G G C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr11:123909445G>C ENST00000330487.5 - 1 272 c.264C>G c.(262-264)ggC>ggG p.G88G NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGATAGTCCTGCCGCTTGGGG 0.527000 12 129 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179819995 179819995 + Nonsense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:179819995G>A ENST00000367612.3 - 4 925 c.538C>T c.(538-540)Cga>Tga p.R180* NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 180 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GCCAGCAGTCGCCTCCTCAGT 0.542000 24 34 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 37 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5369186 5369186 + Missense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr6:5369186G>A ENST00000324331.6 + 2 719 c.383G>A c.(382-384)aGc>aAc p.S128N FARS2_ENST00000274680.4_Missense_Mutation_p.S128N O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 128 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) AACTTTGACAGCCTGCTCATC 0.557000 15 18 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62256122 62256122 + Missense_Mutation SNP A A C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr15:62256122A>C ENST00000261517.5 - 32 3316 c.3243T>G c.(3241-3243)atT>atG p.I1081M VPS13C_ENST00000395896.4_Missense_Mutation_p.I1081M|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1038M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1038M NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1081 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAAATCAATAATGTCACTAT 0.353000 7 35 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 67006756 67006756 + Splice_Site SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr16:67006756G>A ENST00000303334.4 + 13 1591 c.e13-1 CES3_ENST00000543856.1_Splice_Site|CES3_ENST00000394037.1_Splice_Site NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) CTCCCACCCAGGGACCCCAAT 0.602000 26 37 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 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 3 30 0.004672 0.004672 1 1 0 REXO1 57455 broad.mit.edu 37 19 1828027 1828027 + Missense_Mutation SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr19:1828027C>T ENST00000170168.4 - 2 855 c.761G>A c.(760-762)cGg>cAg p.R254Q REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 254 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) CTTGGCGGCCCGCTCATCCCG 0.652000 9 14 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 171871388 171871388 + Missense_Mutation SNP T T C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr2:171871388T>C ENST00000442919.2 - 13 1778 c.1163A>G c.(1162-1164)aAa>aGa p.K388R TLK1_ENST00000521943.1_Missense_Mutation_p.K388R|TLK1_ENST00000431350.2_Missense_Mutation_p.K436R|TLK1_ENST00000434911.2_Missense_Mutation_p.K340R|TLK1_ENST00000360843.3_Missense_Mutation_p.K457R NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 436 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GTTTATTCTTTTCAGCTCACG 0.378000 6 35 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29632697 29632697 + Missense_Mutation SNP T T A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr20:29632697T>A ENST00000278882.3 + 8 892 c.512T>A c.(511-513)tTt>tAt p.F171Y FRG1B_ENST00000358464.4_Missense_Mutation_p.F171Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAAGATGGATTTTTGCATGAG 0.313000 29 396 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39535942 39535942 + Silent SNP G G A rs144246640 byFrequency TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr17:39535942G>A ENST00000394001.1 - 4 786 c.756C>T c.(754-756)aaC>aaT p.N252N NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 252 Linker 12.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CCACCTCCACGTTGAGGCGGT 0.557000 11 16 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212587211 212587211 + Missense_Mutation SNP G G C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr2:212587211G>C ENST00000342788.4 - 7 1100 c.790C>G c.(790-792)Caa>Gaa p.Q264E ERBB4_ENST00000436443.1_Missense_Mutation_p.Q264E|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q264E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 264 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACAAAGGTTTGGGGACACTGA 0.383000 TSP Lung(8;0.080) 13 12 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 3 16 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 153995731 153995731 + Silent SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:153995731G>A ENST00000368559.3 - 31 4236 c.4165C>T c.(4165-4167)Cta>Tta p.L1389L NUP210L_ENST00000368553.1_Silent_p.L322L|NUP210L_ENST00000271854.3_Silent_p.L1389L NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1389 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCTGTGTATAGCTTGGGTTGG 0.493000 4 53 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577143 7577143 + Silent SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr17:7577143C>T ENST00000420246.2 - 8 927 c.795G>A c.(793-795)ctG>ctA p.L265L TP53_ENST00000455263.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000359597.4_Silent_p.L265L|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.L265L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 265 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTTCCGTCCCAGTAGATTAC 0.522000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 0 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 7 9 0 0 1 0 0 FEZF2 55079 broad.mit.edu 37 3 62355877 62355877 + Missense_Mutation SNP T T C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr3:62355877T>C ENST00000283268.3 - 5 1555 c.1261A>G c.(1261-1263)Act>Gct p.T421A FEZF2_ENST00000475839.1_Missense_Mutation_p.T421A|FEZF2_ENST00000486811.1_Missense_Mutation_p.T421A NM_018008.3 NP_060478.3 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 421 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) TTGCCGCAAGTGGCGCACGTG 0.527000 38 55 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106185949 106185949 + Silent SNP T T A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chrX:106185949T>A ENST00000355610.4 - 15 2446 c.2172A>T c.(2170-2172)gcA>gcT p.A724A MORC4_ENST00000255495.7_Silent_p.A724A|MORC4_ENST00000535534.1_Silent_p.A472A NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 724 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 AGGATTCAACTGCTTTTCGTC 0.512000 41 58 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76826042 76826042 + Silent SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr7:76826042G>A ENST00000248598.5 - 2 906 c.874C>T c.(874-876)Ctg>Ttg p.L292L CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 292 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 CTCTTGGTCAGAAGATGAATT 0.408000 5 71 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 12 20 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128926408 128926408 + Missense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chrX:128926408G>A ENST00000356892.3 + 5 661 c.547G>A c.(547-549)Gac>Aac p.D183N NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 183 SH3. breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 AGTCCACACCGACTTCACTCC 0.622000 24 145 0 0 1 0 0 THAP11 57215 broad.mit.edu 37 16 67876787 67876787 + Silent SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr16:67876787G>A ENST00000303596.1 + 1 575 c.330G>A c.(328-330)caG>caA p.Q110Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 110 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) aacagcagcagcagcagcaac 0.682000 6 32 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616320 248616320 + Silent SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:248616320C>T ENST00000342927.3 + 1 244 c.222C>T c.(220-222)taC>taT p.Y74Y NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATACCATCTACATCTGTATCA 0.527000 15 76 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 491957 491957 + Silent SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr5:491957G>A ENST00000264938.3 - 2 450 c.441C>T c.(439-441)gcC>gcT p.A147A SLC9A3_ENST00000514375.1_Silent_p.A147A NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 147 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TACCCACGACGGCGTACAACA 0.642000 4 9 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 21 0 0 1 0 0 FAM9B 171483 broad.mit.edu 37 X 8993591 8993591 + Missense_Mutation SNP C C A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chrX:8993591C>A ENST00000362066.3 - 7 834 c.646G>T c.(646-648)Gtt>Ttt p.V216F FAM9B_ENST00000428477.1_Missense_Mutation_p.V176F|FAM9B_ENST00000327220.5_Missense_Mutation_p.V176F Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 176 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) TCGGAAAAAACTCTGTCACAA 0.328000 11 16 5.16669e-11 5.43164e-11 1 1 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCTGTTCCGTCCCAGTAGATT 0.517000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 0 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33535237 33535237 + Missense_Mutation SNP T T C TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr19:33535237T>C ENST00000254260.3 - 2 138 c.103A>G c.(103-105)Aaa>Gaa p.K35E RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 35 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) TTCTGCAATTTACTCCGGCCG 0.483000 16 25 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 3 20 0.00024832 0.000254528 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 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 3 29 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114453833 114453833 + Missense_Mutation SNP C C T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:114453833C>T ENST00000369563.3 + 4 1065 c.619C>T c.(619-621)Cgc>Tgc p.R207C DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 207 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTCCTCGGCGCCTGGAGTT 0.532000 Other identified genes with known or suspected DNA repair function 19 19 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 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 3 26 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158516963 158516963 + Missense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr6:158516963G>A ENST00000355585.4 + 27 4133 c.4058G>A c.(4057-4059)aGc>aAc p.S1353N SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1308N|SYNJ2_ENST00000367112.1_Missense_Mutation_p.S438N NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1353 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CAGAGCAACAGCCAGCTTCTC 0.642000 9 10 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67457635 67457635 + Missense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr15:67457635G>A ENST00000327367.4 + 3 755 c.445G>A c.(445-447)Gag>Aag p.E149K SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K|SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 149 Linker. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GATCCCGGCCGAGTTCCCCCC 0.602000 54 71 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395834 47395834 + Missense_Mutation SNP G G A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:47395834G>A ENST00000310638.4 - 12 1544 c.1513C>T c.(1513-1515)Cgt>Tgt p.R505C CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R506C NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 505 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CTCCTGAGACGCAGGTGGATT 0.587000 18 25 0 0 1 0 0 GNG12 0 broad.mit.edu 37 1 68171150 68171151 + Frame_Shift_Ins INS - - T TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr1:68171150_68171151insT ENST00000370982.3 - 4 401_402 c.202_203insA c.(202-204)ttgfs p.L68fs NM_018841.5 NP_061329.3 Q9UBI6 GBG12_HUMAN guanine nucleotide binding protein (G protein), gamma 12 68 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity lung(3) 3 GATGATGCAAGTTTTTTTATCC 0.436 23 38 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145608531 145608531 + Frame_Shift_Del DEL A A - TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr5:145608531delA ENST00000265271.5 + 4 492 c.326delA c.(325-327)gafs p.E110fs RBM27_ENST00000506502.1_Frame_Shift_Del_p.E110fs NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 110 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCAGAGGAAGAACGAGAT 0.418 27 41 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7213994 7213994 + Frame_Shift_Del DEL C C - TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr10:7213994delC ENST00000361972.4 - 19 2368 c.2278delG c.(2278-2280)ccfs p.A760fs SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.A760fs NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 760 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AGGGTGACGGCCCTCCGGGGC 0.741 2 4 --- --- --- --- NETO1 81832 broad.mit.edu 37 18 70526115 70526116 + Frame_Shift_Ins INS - - A TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr18:70526115_70526116insA ENST00000327305.6 - 4 1071_1072 c.414_415insT c.(412-417)ttctgafs p.*139fs NETO1_ENST00000299430.2_Frame_Shift_Ins_p.*138fs|NETO1_ENST00000583169.1_Frame_Shift_Ins_p.*139fs|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Frame_Shift_Ins_p.*138fs NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 139 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCTCCATCAGCAAAAAATTTAA 0.342 14 21 --- --- --- --- ZNF414 84330 broad.mit.edu 37 19 8576741 8576741 + Frame_Shift_Del DEL C C - TCGA-DB-A4X9-01A-11D-A26M-08 TCGA-DB-A4X9-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx eea26f3f-6798-4b36-8e5c-a1de8c55f666 59d8d896-b937-4a7b-b503-f112f5570356 g.chr19:8576741delC ENST00000393927.4 - 5 747 c.634delG c.(634-636)ccfs p.A212fs ZNF414_ENST00000255616.8_Frame_Shift_Del_p.A212fs NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CGGTCCAGGGCCGGGGGTGGC 0.731 2 4 --- --- --- ---