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 ADAMTS12 81792 broad.mit.edu 37 5 33576465 33576465 + Silent SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr5:33576465G>A ENST00000504830.1 - 19 4001 c.3666C>T c.(3664-3666)ccC>ccT p.P1222P ADAMTS12_ENST00000352040.3_Silent_p.P1137P NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1222 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCCTTTGGCTGGGGAGCAGTC 0.557000 HNSCC(64;0.19) 6 112 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 7 39 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29240088 29240088 + Silent SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr2:29240088G>A ENST00000379558.4 + 9 1464 c.1113G>A c.(1111-1113)ctG>ctA p.L371L FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.L371L NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 371 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGATGGAGCTGCTTCGGAGGC 0.572000 4 97 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109654442 109654442 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr12:109654442G>A ENST00000338432.7 + 23 3489 c.3370G>A c.(3370-3372)Ggc>Agc p.G1124S ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S|ACACB_ENST00000377854.5_Intron O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1124 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.G1124S(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CGGGATCCGCGGCTATATGAA 0.458000 10 119 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170042112 170042112 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr4:170042112G>A ENST00000284637.9 - 8 1716 c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 459 Interaction with AKT2 (By similarity).|SH3 3. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TCCTCTTTCCGAGGAGTGTAT 0.403000 4 76 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637726 100637726 + Silent SNP G G T TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr13:100637726G>T ENST00000376335.3 + 3 1682 c.1389G>T c.(1387-1389)gcG>gcT p.A463A ZIC2_ENST00000477213.1_3'UTR NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 463 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) cggcggcggcggctgcggcgg 0.816000 3 16 0.115264 0.115264 1 1 0 RP11-445N18.7 0 broad.mit.edu 37 10 45652269 45652269 + RNA SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr10:45652269G>A ENST00000427229.2 + 0 1783 CACCCTTGGCGGAAAGAACAC 0.473000 3 48 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 3 35 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978417 58978417 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr11:58978417G>A ENST00000361050.3 - 1 2007 c.1922C>T c.(1921-1923)gCc>gTc p.A641V NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 641 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GACATTCATGGCCCTCCGCAG 0.547000 12 152 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44069662 44069662 + Missense_Mutation SNP C C T TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr1:44069662C>T ENST00000359947.4 + 16 3179 c.2839C>T c.(2839-2841)Cgc>Tgc p.R947C PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R938C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R947C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R938C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R295C NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 947 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGGAACGGGCGCATCATCAG 0.602000 4 50 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790136 78790136 + Missense_Mutation SNP T T C rs62556589 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr9:78790136T>C ENST00000376767.3 + 14 2503 c.1991T>C c.(1990-1992)aTg>aCg p.M664T PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 tggaatggaatgaaatggaat 0.423000 3 19 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 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 23 84 0 0 1 0 0 TSPAN14 81619 broad.mit.edu 37 10 82264513 82264513 + Silent SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr10:82264513G>A ENST00000429989.2 + 3 334 c.111G>A c.(109-111)ggG>ggA p.G37G TSPAN14_ENST00000372158.1_Silent_p.G37G|TSPAN14_ENST00000341863.6_Silent_p.G37G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372156.1_Silent_p.G37G NM_030927.2 NP_112189.2 Q8NG11 TSN14_HUMAN tetraspanin 14 37 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 Colorectal(32;0.229) TTGGAGTCGGGCTGTGGGCAT 0.517000 4 111 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578492 7578492 + Nonsense_Mutation SNP C C T TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr17:7578492C>T ENST00000420246.2 - 5 570 c.438G>A c.(436-438)tgG>tgA p.W146* TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 146 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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) TGGAATCAACCCACAGCTGCA 0.602000 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) 5 95 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988753 154988753 + Silent SNP C C T TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr1:154988753C>T ENST00000368426.3 + 4 1349 c.1212C>T c.(1210-1212)tgC>tgT p.C404C ZBTB7B_ENST00000417934.2_Silent_p.C438C|ZBTB7B_ENST00000535420.1_Silent_p.C404C|ZBTB7B_ENST00000292176.2_Silent_p.C404C NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 404 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCTACTCATGCCCGCACTGCC 0.632000 4 121 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 5 64 0 0 1 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195925263 195925263 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr3:195925263G>A ENST00000296326.3 - 7 912 c.833C>T c.(832-834)cCg>cTg p.P278L NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 278 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GTGCAGATTCGGCATGGATGT 0.657000 7 82 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 43 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42793100 42793100 + Missense_Mutation SNP C C T TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr19:42793100C>T ENST00000572681.2 + 8 3787 c.3719C>T c.(3718-3720)cCg>cTg p.P1240L CIC_ENST00000160740.3_Missense_Mutation_p.P331L|CIC_ENST00000575354.2_Missense_Mutation_p.P331L Q96RK0 CIC_HUMAN capicua transcriptional repressor 331 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ACCAAGGCTCCGGGGAGCAGC 0.617000 """Mis, F, S""" oligodendroglioma 4 112 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911640 54911640 + Missense_Mutation SNP G G A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr12:54911640G>A ENST00000293373.6 + 13 1335 c.1256G>A c.(1255-1257)cGa>cAa p.R419Q NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R369Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 419 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TCTCTGGTCCGAAGACACATC 0.388000 27 77 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 3 63 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257912 18257912 + Missense_Mutation SNP G G C TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr8:18257912G>C ENST00000286479.3 + 2 506 c.399G>C c.(397-399)caG>caC p.Q133H NAT2_ENST00000520116.1_Missense_Mutation_p.Q3H NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 133 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AGATGTGGCAGCCTCTAGAAT 0.502000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 16 64 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 2 4 --- --- --- --- NBPF10 100132406 broad.mit.edu 37 1 145325986 145325986 + Frame_Shift_Del DEL G G - TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr1:145325986delG ENST00000342960.5 + 30 3894 c.3859delG c.(3859-3861)aafs p.E1287fs NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1287 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAAGGGCCTGAAGTCTTGCA 0.468 3 5 --- --- --- --- CEP350 9857 broad.mit.edu 37 1 179991958 179991959 + Frame_Shift_Ins INS - - A TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr1:179991958_179991959insA ENST00000367607.3 + 13 3779_3780 c.3361_3362insA c.(3361-3363)aaafs p.K1121fs NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1121 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GACTTCGACAGAAAAAAAATCA 0.391 3 5 --- --- --- --- RP11-93K22.13 0 broad.mit.edu 37 3 129811873 129811874 + RNA DEL AA AA - rs71158104 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr3:129811873_129811874delAA ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA agtctgtcagaaaaaaaaaaaa 0.381 2 4 --- --- --- --- CTC-467M3.1 0 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 4 7 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr10:71905929_71905931delCAG ENST00000287078.6 - 1 411_413 c.412_414delCTG c.(412-414)del p.L138del TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 138 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGGGCAGCTCAGCAGCAGCAGC 0.739 2 4 --- --- --- --- MNT 4335 broad.mit.edu 37 17 2298167 2298168 + Splice_Site INS - - C TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr17:2298167_2298168insC ENST00000174618.4 - 2 1059 c.e2+1 NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CACCCCACTCACCCCCCGGGCC 0.663 2 4 --- --- --- --- CTC-439O9.3 0 broad.mit.edu 37 19 31670636 31670638 + RNA DEL GGT GGT - rs139984397 TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr19:31670636_31670638delGGT ENST00000589511.1 + 0 223 gatgatggtaggtggtggtggtg 0.502 3 3 --- --- --- --- PLA2G3 50487 broad.mit.edu 37 22 31533838 31533838 + Frame_Shift_Del DEL A A - TCGA-HT-7602-01A-21D-2086-08 TCGA-HT-7602-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88395c0e-4afe-434d-8b20-5a3eef8b7f00 5844876a-d390-4c02-acb9-f32647ca7375 g.chr22:31533838delA ENST00000215885.3 - 4 1176 c.924delT c.(922-924)ctfs p.L308fs NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 308 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GCCCCTTCCGAAGGTGCTGCT 0.647 8 244 --- --- --- ---