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 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 7 56 0 0 0.080935 0 0 RUNX2 860 broad.mit.edu 37 6 45390482 45390482 + Missense_Mutation SNP C C G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr6:45390482C>G ENST00000371438.1 + 2 569 c.211C>G c.(211-213)Cag>Gag p.Q71E RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcagcaggaggcggc 0.716000 3 26 0 0 0.004672 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 43 0 0 0.029380 0 0 CUEDC1 404093 broad.mit.edu 37 17 55957076 55957076 + Silent SNP A A G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:55957076A>G ENST00000577830.1 - 3 773 c.360T>C c.(358-360)ccT>ccC p.P120P CUEDC1_ENST00000360238.2_Silent_p.P120P|CUEDC1_ENST00000407144.2_Silent_p.P120P|CUEDC1_ENST00000577840.1_5'UTR NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 120 Pro-rich. endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 CCGAGCTATCAGGTTCCAAAG 0.502000 3 99 0 0 0.004672 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 3 15 0 0 0.009096 0 0 AKAP11 11215 broad.mit.edu 37 13 42874583 42874583 + Missense_Mutation SNP A A C TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr13:42874583A>C ENST00000025301.2 + 8 1876 c.1701A>C c.(1699-1701)aaA>aaC p.K567N NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 567 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTGCATTTAAAGACTTACAGA 0.323000 3 59 0 0 0.009096 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 66 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7579566 7579566 + Frame_Shift_Del DEL C C - TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:7579566delC ENST00000420246.2 - 4 253 c.121delG c.(121-123)atfs p.D42fs TP53_ENST00000413465.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D42fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D42fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D42fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 42 Interaction with HRMT1L2.|Transcription activation (acidic). D -> Y (in a sporadic cancer; 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.D41fs*3(1)|p.S37fs*79(1)|p.P13fs*18(1)|p.S33fs*23(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) ATCAAATCATCCATTGCTTGG 0.602 111 """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) 14 285 --- --- --- --- SOCS7 30837 broad.mit.edu 37 17 36508663 36508665 + In_Frame_Del DEL AGC AGC - TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr17:36508663_36508665delAGC ENST00000577233.1 + 1 536_538 c.536_538delAGC c.(535-540)gag>g p.EQ179del SOCS7_ENST00000331159.5_In_Frame_Del_p.EQ179del NM_014598.2 NP_055413.1 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 179 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding p.Q187delQ(1) central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) AGTAGAGGGGagcagcagcagca 0.709 3 6 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 3 4 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45017504 45017504 + RNA DEL T T - rs71171252 TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f59ef1d2-2fc0-44a0-9d2f-c4efd9e79f5d 6dbfbb98-28ba-4e3a-ae25-dc705ad70e7d g.chr19:45017504delT ENST00000454753.1 - 0 1588 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ttggttttgcttttttttttt 0.458 2 4 --- --- --- ---