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 7577115 7577115 + Missense_Mutation SNP A A G TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr17:7577115A>G ENST00000420246.2 - 8 955 c.823T>C c.(823-825)Tgt>Cgt p.C275R TP53_ENST00000359597.4_Missense_Mutation_p.C275R|TP53_ENST00000269305.4_Missense_Mutation_p.C275R|TP53_ENST00000445888.2_Missense_Mutation_p.C275R|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GGACAGGCACAAACACGCACC 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) 21 2 0 0 1 0 0 EEF1DP3 0 broad.mit.edu 37 13 32527349 32527349 + RNA SNP T T C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr13:32527349T>C ENST00000428783.1 + 0 1049 GCGGGGGGCCTCCAAGCTGGT 0.632000 3 26 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915646 202915646 + Silent SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr1:202915646G>A ENST00000340990.5 - 4 649 c.351C>T c.(349-351)ccC>ccT p.P117P ADIPOR1_ENST00000367254.3_Silent_p.P117P|ADIPOR1_ENST00000436244.1_Silent_p.P117P NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 117 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) AGGAGGGCATGGGAGGTCTAT 0.512000 3 52 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76533486 76533486 + Silent SNP C C T TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr17:76533486C>T ENST00000389840.5 - 19 2878 c.2754G>A c.(2752-2754)gtG>gtA p.V918V DNAH17_ENST00000585328.1_Silent_p.V915V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCTGAGCCCACCTCCAGGG 0.602000 6 17 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58467639 58467639 + Silent SNP T T C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr20:58467639T>C ENST00000357552.3 - 23 2136 c.1911A>G c.(1909-1911)ggA>ggG p.G637G SYCP2_ENST00000371001.2_Silent_p.G637G Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 637 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCAATGTGTCTCCTGACGAAG 0.313000 3 38 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93649977 93649977 + Missense_Mutation SNP C C G TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr14:93649977C>G ENST00000556883.1 - 2 1095 c.611G>C c.(610-612)aGg>aCg p.R204T MOAP1_ENST00000298894.4_Missense_Mutation_p.R204T Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 204 RASSF1-binding. activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) tagcaatcgccttctcttctc 0.463000 5 65 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71740801 71740801 + Silent SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr18:71740801G>A ENST00000269500.5 - 10 1535 c.1200C>T c.(1198-1200)caC>caT p.H400H FBXO15_ENST00000419743.2_Silent_p.H476H|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 400 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) CCAGCTCCACGTGCACTCTTC 0.502000 85 90 0 0 1 0 0 ZNF581 51545 broad.mit.edu 37 19 56156055 56156055 + Missense_Mutation SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr19:56156055G>A ENST00000587252.1 + 2 391 c.118G>A c.(118-120)Gga>Aga p.G40R ZNF581_ENST00000270451.5_Missense_Mutation_p.G40R|ZNF581_ENST00000588537.1_Missense_Mutation_p.G40R Q9P0T4 ZN581_HUMAN zinc finger protein 581 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTCCTCCATCGGATCTCCCCA 0.612000 10 4 0 0 1 0 0 CTSA 5476 broad.mit.edu 37 20 44523724 44523724 + Missense_Mutation SNP G G A TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr20:44523724G>A ENST00000372484.3 + 11 1376 c.1094G>A c.(1093-1095)cGg>cAg p.R365Q CTSA_ENST00000354880.5_Missense_Mutation_p.R348Q|CTSA_ENST00000191018.5_Missense_Mutation_p.R347Q|CTSA_ENST00000372459.2_Missense_Mutation_p.R347Q NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 347 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CCGTACGTGCGGAAGGCCCTC 0.612000 17 22 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90611149 90611149 + Silent SNP T T G TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr15:90611149T>G ENST00000268154.4 + 2 1031 c.780T>G c.(778-780)ggT>ggG p.G260G NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) ACACGGCGGGTTCGACCGTGG 0.652000 5 45 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43223344 43223344 + Missense_Mutation SNP G G T TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr6:43223344G>T ENST00000259750.4 + 8 780 c.697G>T c.(697-699)Gca>Tca p.A233S TTBK1_ENST00000304139.5_Missense_Mutation_p.A182S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 233 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGTGGAGTTTGCAGTGGGCCA 0.632000 6 7 4.096e-09 4.45217e-09 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 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 23 0 0 1 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768408 31768408 + Missense_Mutation SNP T T C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr21:31768408T>C ENST00000355459.2 + 1 17 c.4T>C c.(4-6)Tcc>Ccc p.S2P NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 2 intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CATCAACATGTCCTACAACTG 0.522000 69 15 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18550345 18550345 + Silent SNP T T C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr18:18550345T>C ENST00000399799.1 - 23 3724 c.2784A>G c.(2782-2784)agA>agG p.R928R NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 928 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TAATCTCTTGTCTATTTCTTG 0.368000 16 29 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994297 91994297 + Silent SNP T T C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr9:91994297T>C ENST00000450295.1 - 16 2687 c.1911A>G c.(1909-1911)caA>caG p.Q637Q SEMA4D_ENST00000438547.2_Silent_p.Q637Q|SEMA4D_ENST00000422704.2_Silent_p.Q637Q|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.Q637Q|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 637 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TGGCGACCACTTGGAAGACCG 0.517000 6 233 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 10 0.004672 0.004672 1 1 0 FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 2 4 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313791 1313791 + Frame_Shift_Del DEL C C - TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr6:1313791delC ENST00000296839.2 + 1 1117 c.852delC c.(850-852)cgfs p.R285fs NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 285 Pro-rich. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TCCGCAGCCGCCGCCTCAGGG 0.776 2 4 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- --- CHTF18 63922 broad.mit.edu 37 16 838678 838678 + Frame_Shift_Del DEL G G - TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr16:838678delG ENST00000317063.6 + 2 585 c.585delG c.(583-585)gcfs p.A195fs CHTF18_ENST00000262315.9_5'UTR|CHTF18_ENST00000455171.2_5'UTR Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 0 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) TCGGGCTCGCGGACGGTATGG 0.721 2 4 --- --- --- --- PSMB6 5694 broad.mit.edu 37 17 4699584 4699584 + Frame_Shift_Del DEL C C - TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr17:4699584delC ENST00000270586.3 + 1 146 c.95delC c.(94-96)tcfs p.S32fs NM_001270481.1|NM_002798.2 NP_001257410.1|NP_002789.1 P28072 PSB6_HUMAN proteasome (prosome, macropain) subunit, beta type, 6 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 CGAGAAGTTTCCACTGGGGTG 0.607 2 4 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 8 208 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920179 76920180 + Frame_Shift_Ins INS - - C TCGA-R8-A6YH-01A-21D-A32B-08 TCGA-R8-A6YH-10B-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 869ec76d-1e6f-40c1-9bd6-9d26bfd543ad 34cd7573-262b-451f-a866-4540450147b3 g.chrX:76920179_76920180insC ENST00000373344.5 - 11 4111_4112 c.3897_3898insG c.(3895-3900)ggaaaafs p.GK1299fs ATRX_ENST00000395603.3_Frame_Shift_Ins_p.GK1261fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1299 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) GTTCTTTTTTTCCCTTCTTCTG 0.371 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 37 7 --- --- --- ---