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 NUP133 55746 broad.mit.edu 37 1 229593964 229593964 + Missense_Mutation SNP T T C TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr1:229593964T>C ENST00000261396.3 - 21 3015 c.2924A>G c.(2923-2925)aAa>aGa p.K975R NUP133_ENST00000366679.1_Missense_Mutation_p.K904R|NUP133_ENST00000537506.1_Missense_Mutation_p.K959R NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 975 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGCAGCCAATTTACTCAAGCC 0.368000 21 40 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47764023 47764023 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr19:47764023G>A ENST00000221922.6 + 5 611 c.389G>A c.(388-390)cGg>cAg p.R130Q NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 130 Gly-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCGTGGCCGGAGGGGCCGG 0.706000 17 21 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 114 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626810 122626810 + Missense_Mutation SNP G G A rs148429340 by1000genomes TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr8:122626810G>A ENST00000303924.4 - 4 1735 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 400 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ATTTTACCCCGGTAGAAGAGC 0.408000 4 208 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631709 67631709 + Missense_Mutation SNP C C T TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr2:67631709C>T ENST00000272342.5 + 5 2025 c.1895C>T c.(1894-1896)aCa>aTa p.T632I ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 632 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GACAGTAAGACATCAGAAAGT 0.363000 44 125 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717332 222717332 + Missense_Mutation SNP A A T TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr1:222717332A>T ENST00000343410.6 - 2 579 c.521T>A c.(520-522)cTt>cAt p.L174H NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 174 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CTTGTCAGGAAGGTCCAGGAG 0.577000 4 71 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65252309 65252309 + Splice_Site SNP C C A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chrX:65252309C>A ENST00000455586.2 - 3 821 c.e3+1 VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Splice_Site NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGCCGCTCACCTTTGACCAC 0.507000 4 30 0.00909568 0.00909568 1 1 0 PKN1 5585 broad.mit.edu 37 19 14581115 14581115 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr19:14581115G>A ENST00000242783.6 + 19 2599 c.2434G>A c.(2434-2436)Gag>Aag p.E812K PKN1_ENST00000342216.4_Missense_Mutation_p.E818K NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 812 Protein kinase. E -> G (in Ref. 3; BAG36611). activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GCTGGTTGGCGAGGTGAGACC 0.627000 11 28 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4510712 4510712 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr17:4510712G>A ENST00000389313.4 + 8 1383 c.1316G>A c.(1315-1317)cGc>cAc p.R439H SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 439 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GTGATGGGCCGCAAGCCGGAC 0.582000 5 214 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106092260 106092260 + RNA SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr14:106092260G>A ENST00000390543.2 - 0 143 TGTGCACGCCGCTGGTCAGGG 0.652000 9 46 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be 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 5 31 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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 20 38 0 0 1 0 0 CSTF1 1477 broad.mit.edu 37 20 54972798 54972798 + Missense_Mutation SNP C C G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr20:54972798C>G ENST00000217109.4 + 4 898 c.546C>G c.(544-546)caC>caG p.H182Q CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 182 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) TTGCTTTCCACCCAACAGAAC 0.408000 3 95 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578280 7578280 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr17:7578280G>A ENST00000420246.2 - 6 701 c.569C>T c.(568-570)cCt>cTt p.P190L TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190L|TP53_ENST00000269305.4_Missense_Mutation_p.P190L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 190 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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) ATGCTGAGGAGGGGCCAGACC 0.552000 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) 24 25 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52426901 52426901 + Missense_Mutation SNP A A G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr3:52426901A>G ENST00000420323.2 + 65 10595 c.10334A>G c.(10333-10335)gAg>gGg p.E3445G NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3510 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACGCGCATGGAGTACATACCC 0.577000 4 122 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr16:90162340C>T ENST00000564451.1 + 0 1693 TUBB8P7_ENST00000567960.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 4 122 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626238 12626238 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr17:12626238G>A ENST00000425538.1 + 5 528 c.328G>A c.(328-330)Gaa>Aaa p.E110K MYOCD_ENST00000395988.1_Missense_Mutation_p.E14K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E110K NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 110 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGATCTCAATGAAAAAATTGC 0.453000 5 189 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117822018 117822018 + Missense_Mutation SNP C C G TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr9:117822018C>G ENST00000350763.4 - 14 4708 c.4297G>C c.(4297-4299)Gcc>Ccc p.A1433P TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1433 Fibronectin type-III 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCTGTGGAGGCCTCAGCAGAG 0.552000 76 174 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 77 0 0 1 0 0 HYAL1 3373 broad.mit.edu 37 3 50339946 50339946 + Missense_Mutation SNP G G A TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr3:50339946G>A ENST00000266031.4 - 1 1057 c.442C>T c.(442-444)Cgg>Tgg p.R148W HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 148 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) GAGCGCTGCCGGTAAATGTCC 0.642000 4 170 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 32 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54364953 54364953 + Missense_Mutation SNP T T C TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr4:54364953T>C ENST00000306888.2 - 4 796 c.545A>G c.(544-546)aAt>aGt p.N182S LNX1_ENST00000263925.7_Missense_Mutation_p.N278S|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 278 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATCTACTCGATTGATCTTGAT 0.448000 26 38 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 960 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 8 71 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 9 31 --- --- --- --- CWF19L2 143884 broad.mit.edu 37 11 107312278 107312278 + Frame_Shift_Del DEL T T - TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr11:107312278delT ENST00000282251.5 - 5 548 c.521delA c.(520-522)agfs p.K174fs CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 174 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) CATAGTTTCCTTTTCAGCTTT 0.318 2 4 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 7 13 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 2 4 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 8 125 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855036 76855037 + Frame_Shift_Del DEL CT CT - TCGA-P5-A72X-01A-11D-A32B-08 TCGA-P5-A72X-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37801feb-014d-4baa-a5cd-1cc187d81523 fda2c63f-c629-47fb-b946-aa44624024be g.chrX:76855036_76855037delCT ENST00000373344.5 - 25 6013_6014 c.5799_5800delAG c.(5797-5802)aaggfs p.KG1933fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KG1895fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1933 Poly-Lys. 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) CCCTTTTTCCCTTTTTTCTTCT 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 169 50 --- --- --- ---