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 DOCK4 9732 broad.mit.edu 37 7 111405275 111405275 + Missense_Mutation SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr7:111405275T>C ENST00000428084.1 - 39 4191 c.3919A>G c.(3919-3921)Atg>Gtg p.M1307V DOCK4_ENST00000437633.1_Missense_Mutation_p.M1298V|DOCK4_ENST00000494651.2_Missense_Mutation_p.M181V Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1298 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GAGGCTTCCATCATCTAGAAA 0.313000 2 7 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56350746 56350746 + Silent SNP C C T rs149851365 byFrequency TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr12:56350746C>T ENST00000548747.1 - 6 2003 c.1341G>A c.(1339-1341)acG>acA p.T447T PMEL_ENST00000360714.4_Silent_p.T447T|PMEL_ENST00000449260.2_Silent_p.T447T|PMEL_ENST00000548493.1_Silent_p.T447T|PMEL_ENST00000550464.1_Silent_p.T361T|PMEL_ENST00000552882.1_Silent_p.T447T|PMEL_ENST00000536427.1_Silent_p.T405T|PMEL_ENST00000539511.1_Silent_p.T361T|PMEL_ENST00000550447.1_Intron P40967 PMEL_HUMAN premelanosome protein 447 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TAATACTTTCCGTAGACATGA 0.502000 34 51 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18690025 18690025 + Missense_Mutation SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr10:18690025T>C ENST00000377315.4 + 1 284 c.65T>C c.(64-66)aTc>aCc p.I22T CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron NM_201570.2 NP_963864.1 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 0 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AATTCTGATATCTGTGTAAGC 0.507000 36 45 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26589805 26589805 + Missense_Mutation SNP G G A TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr10:26589805G>A ENST00000376261.3 + 16 2176 c.1673G>A c.(1672-1674)cGc>cAc p.R558H GAD2_ENST00000259271.3_Missense_Mutation_p.R558H NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 558 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) AATTTCTTCCGCATGGTCATC 0.463000 89 102 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51897948 51897948 + Missense_Mutation SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr6:51897948T>C ENST00000371117.3 - 29 3519 c.3244A>G c.(3244-3246)Att>Gtt p.I1082V PKHD1_ENST00000340994.4_Missense_Mutation_p.I1082V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1082 IPT/TIG 5. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACATTCACAATGCGTCCATCT 0.368000 27 45 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803498 142803498 + RNA SNP G G T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr1:142803498G>T ENST00000423385.1 - 0 1467 ATTTATTATTGATTTAAAATG 0.313000 8 76 2.17888e-05 2.43522e-05 1 1 0 EWSR1 2130 broad.mit.edu 37 22 29694857 29694857 + Nonsense_Mutation SNP C C T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr22:29694857C>T ENST00000397938.2 + 14 1871 c.1552C>T c.(1552-1554)Cga>Tga p.R518* EWSR1_ENST00000406548.1_Nonsense_Mutation_p.R517*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.R523*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.R462*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.R445*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.R480* NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CGTCCAGCACCGAGCTGGAGA 0.602000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 51 88 0 0 1 0 0 STAM2 10254 broad.mit.edu 37 2 153003685 153003685 + Silent SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr2:153003685T>C ENST00000263904.4 - 5 787 c.438A>G c.(436-438)gcA>gcG p.A146A STAM2_ENST00000465460.1_5'UTR NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 146 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) CCTGAGAACCTGCTGGAGGAA 0.373000 49 63 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc 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 17 66 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr17:7578271T>A ENST00000420246.2 - 6 710 c.578A>T c.(577-579)cAt>cTt p.H193L TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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) TCGGATAAGATGCTGAGGAGG 0.562000 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) 22 44 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70767813 70767813 + Missense_Mutation SNP T T G TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chrX:70767813T>G ENST00000373719.3 + 5 805 c.588T>G c.(586-588)aaT>aaG p.N196K OGT_ENST00000373701.3_Missense_Mutation_p.N186K NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 196 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity p.N196K(1)|p.N186K(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CTTGGAGTAATCTTGGCTGTG 0.378000 73 9 0 0 1 0 0 MZT2A 653784 broad.mit.edu 37 2 132241765 132241765 + Missense_Mutation SNP C C G TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr2:132241765C>G ENST00000309451.6 - 3 391 c.346G>C c.(346-348)Ggg>Cgg p.G116R MZT2A_ENST00000410036.2_5'UTR NM_001085365.1 NP_001078834.1 Q6P582 MZT2A_HUMAN mitotic spindle organizing protein 2A 116 centrosome|gamma-tubulin ring complex|spindle p.G116R(1) breast(1)|lung(1) 2 AATACTCCCCCGAGGGCAGCG 0.632000 9 104 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141677165 141677165 + Missense_Mutation SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr4:141677165T>C ENST00000442267.2 - 1 109 c.35A>G c.(34-36)aAc>aGc p.N12S NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 12 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CCACAGCGCGTTGGCCAGCAA 0.701000 7 19 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54429276 54429276 + Missense_Mutation SNP C C T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr5:54429276C>T ENST00000334206.5 - 6 837 c.661G>A c.(661-663)Gtg>Atg p.V221M CDC20B_ENST00000381375.2_Missense_Mutation_p.V221M|CDC20B_ENST00000322374.6_Missense_Mutation_p.V221M|CDC20B_ENST00000296733.1_Missense_Mutation_p.V221M Q86Y33 CD20B_HUMAN cell division cycle 20B 221 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGAATCTTCACCTCTGGTTGG 0.368000 36 53 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114989706 114989706 + Missense_Mutation SNP T T C TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr9:114989706T>C ENST00000334318.6 - 13 1628 c.1442A>G c.(1441-1443)cAt>cGt p.H481R PTBP3_ENST00000374257.1_Missense_Mutation_p.H450R|PTBP3_ENST00000374255.2_Missense_Mutation_p.H478R|PTBP3_ENST00000343327.2_Missense_Mutation_p.H383R|PTBP3_ENST00000458258.1_Missense_Mutation_p.H484R NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 478 RRM 4. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding GTTGGAAAGATGCAGAGTGGC 0.368000 49 62 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6270683 6270683 + Missense_Mutation SNP C C A TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr19:6270683C>A ENST00000252674.7 - 2 263 c.100G>T c.(100-102)Gtg>Ttg p.V34L NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 34 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 CGGACAAACACCATCCAGTCG 0.622000 T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 46 0.00198382 0.00203743 1 1 0 MYL9 10398 broad.mit.edu 37 20 35177631 35177631 + Silent SNP C C T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr20:35177631C>T ENST00000279022.2 + 4 602 c.498C>T c.(496-498)ggC>ggT p.G166G MYL9_ENST00000346786.2_Silent_p.G112G|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA NM_006097.4 NP_006088.2 P24844 MYL9_HUMAN myosin, light chain 9, regulatory 166 EF-hand 3. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TCAAACATGGCGCCAAGGATA 0.602000 4 30 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 4 30 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1265549 1265549 + Missense_Mutation SNP G G A TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr16:1265549G>A ENST00000348261.5 + 30 5448 c.5200G>A c.(5200-5202)Ggc>Agc p.G1734S CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1728S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1728S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1734 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity p.G1734C(1)|p.G1728C(1) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GATGGCTACGGGCATGCGCGC 0.721000 12 15 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475010 217475010 + RNA DEL G G - TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr2:217475010delG ENST00000441803.1 + 0 195 ttttttttttGAAAGAAAGGC 0.393 4 6 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 5 3 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577150 7577151 + Frame_Shift_Del DEL TT TT - rs72661119 TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chr17:7577150_7577151delTT ENST00000420246.2 - 8 919_920 c.787_788delAA c.(787-789)tfs p.N263fs TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N263fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 263 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (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.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(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) TCCCAGTAGATTACCACTACTC 0.520 111 """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) 17 23 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938001 76938001 + Frame_Shift_Del DEL G G - TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d315e0c-c20e-4f62-ae8b-42bdd9dbe053 826113c1-03bb-49be-82f0-e1dd43ec6cbc g.chrX:76938001delG ENST00000373344.5 - 9 2961 c.2747delC c.(2746-2748)gtfs p.A916fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.A878fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 916 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATCAGTGGAAGCACTTGCTTG 0.418 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 122 35 --- --- --- ---