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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 167 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938562 76938562 + Nonsense_Mutation SNP G G C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chrX:76938562G>C ENST00000373344.5 - 9 2400 c.2186C>G c.(2185-2187)tCa>tGa p.S729* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 729 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) ATCAGAATCTGAATTTTGATC 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 86 40 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2910030 2910030 + Silent SNP T T C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr8:2910030T>C ENST00000520002.1 - 51 8172 c.7617A>G c.(7615-7617)caA>caG p.Q2539Q CSMD1_ENST00000400186.3_Silent_p.Q2539Q|CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000602557.1_Silent_p.Q2539Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2539 Sushi 15. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACCCATCTTCTTGACACACGG 0.502000 6 7 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141083421 141083421 + Missense_Mutation SNP G G A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr2:141083421G>A ENST00000389484.3 - 80 13221 c.12250C>T c.(12250-12252)Cgc>Tgc p.R4084C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4084 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAATATATGCGTTCACTAAAA 0.378000 TSP Lung(27;0.18) 4 69 0 0 1 0 0 SSBP4 170463 broad.mit.edu 37 19 18541701 18541701 + Missense_Mutation SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr19:18541701C>A ENST00000270061.6 + 5 550 c.330C>A c.(328-330)gaC>gaA p.D110E SSBP4_ENST00000348495.5_Missense_Mutation_p.D110E NM_032627.4 NP_116016.1 Q9BWG4 SSBP4_HUMAN single stranded DNA binding protein 4 110 nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CCCCAGGTGACACAATGGCCG 0.647000 3 30 2.56e-06 2.79273e-06 1 1 0 APOBEC1 339 broad.mit.edu 37 12 7805222 7805222 + Missense_Mutation SNP G G A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr12:7805222G>A ENST00000229304.4 - 3 274 c.254C>T c.(253-255)aCc>aTc p.T85I NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 85 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CAAGAACCAGGTGATGGAGCA 0.473000 9 59 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158787 102158787 + Silent SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr12:102158787C>T ENST00000299314.7 - 13 2170 c.1908G>A c.(1906-1908)agG>agA p.R636R NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 636 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TTGGTCCCTCCCTTGTGTCCA 0.403000 37 64 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109357066 109357066 + Missense_Mutation SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr2:109357066C>A ENST00000283195.6 + 7 1030 c.904C>A c.(904-906)Cag>Aag p.Q302K NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 302 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAGATGGGTCAGCATAGTAG 0.413000 6 358 0.248553 0.253841 1 1 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 3 24 1.23904e-05 1.32164e-05 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 9 160 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105922110 105922110 + Missense_Mutation SNP C C T rs143442935 byFrequency TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr10:105922110C>T ENST00000357060.3 - 25 3413 c.3298G>A c.(3298-3300)Gtg>Atg p.V1100M WDR96_ENST00000428666.1_Missense_Mutation_p.V1101M NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1100 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCATGATTCACGATCAATTCT 0.403000 11 195 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e 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 40 60 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475584 120475584 + Missense_Mutation SNP A A G TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr9:120475584A>G ENST00000355622.6 + 3 1279 c.1178A>G c.(1177-1179)cAa>cGa p.Q393R TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 393 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TGCTGTTCTCAAAGTGATTTT 0.388000 17 132 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899689 156899689 + Silent SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr5:156899689C>A ENST00000311946.7 + 6 1238 c.1122C>A c.(1120-1122)atC>atA p.I374I NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 374 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CGTCCATCATCCTCTTCAAGG 0.512000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 49 1.7489e-18 1.99875e-18 1 1 0 RP11-85G18.6 0 broad.mit.edu 37 10 27537142 27537142 + RNA SNP A A G TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr10:27537142A>G ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CTCCGGCTCAATAGTCAGCTC 0.483000 75 123 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290002 62290002 + Missense_Mutation SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr11:62290002C>T ENST00000378024.4 - 5 12161 c.11887G>A c.(11887-11889)Gtc>Atc p.V3963I AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3963 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGTCCTGAGACGTCAAGGTCA 0.483000 24 476 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899850 156899850 + Missense_Mutation SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr5:156899850C>T ENST00000311946.7 + 6 1399 c.1283C>T c.(1282-1284)cCc>cTc p.P428L NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 428 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCCCCTTCTCCCGCCCCGGAA 0.517000 18 29 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79820286 79820286 + Missense_Mutation SNP T T C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr9:79820286T>C ENST00000360280.3 + 4 505 c.245T>C c.(244-246)gTa>gCa p.V82A VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A|VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 82 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTTGAAGCCGTATTGGAAGAA 0.229000 9 129 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 70 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523567 42523567 + Missense_Mutation SNP T T C rs61736517 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr22:42523567T>C ENST00000360608.5 - 7 1169 c.1055A>G c.(1054-1056)cAc>cGc p.H352R NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000439129.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 352 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTAGGGCATGTGAGCCTGGTC 0.592000 5 46 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159504970 159504970 + Silent SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr1:159504970C>T ENST00000334857.2 - 1 872 c.828G>A c.(826-828)acG>acA p.T276T NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TGATGGTGTACGTCACTGAGA 0.458000 49 62 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233391274 233391274 + Missense_Mutation SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr2:233391274C>T ENST00000258385.3 + 2 120 c.88C>T c.(88-90)Cgg>Tgg p.R30W CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 30 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GCGGCTGATCCGGCACCTGTT 0.632000 36 56 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36909834 36909834 + Missense_Mutation SNP T T A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr13:36909834T>A ENST00000451493.1 - 2 351 c.134A>T c.(133-135)tAc>tTc p.Y45F SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 45 MIT. cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGCTTATAGTAGTTCTTTGC 0.398000 4 125 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95677044 95677044 + Missense_Mutation SNP G G C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr14:95677044G>C ENST00000298912.4 - 7 894 c.781C>G c.(781-783)Ccc>Gcc p.P261A NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 261 Actin-binding.|CH 2. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AGGAGCCTGGGGATGTGCAGG 0.473000 46 54 0 0 1 0 0 NPY4R 0 broad.mit.edu 37 10 47086811 47086811 + Silent SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr10:47086811C>T ENST00000374312.1 + 3 447 c.28C>T c.(28-30)Ctg>Ttg p.L10L NPY4R_ENST00000395716.1_Silent_p.L10L NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CCTGGCCTTGCTGCTCCCAAA 0.488000 5 144 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86518658 86518658 + Nonsense_Mutation SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr9:86518658C>A ENST00000297814.2 - 4 918 c.775G>T c.(775-777)Gaa>Taa p.E259* KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259* NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 259 Kinesin-motor. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TTGAACCGTTCACCAGTATTC 0.438000 6 131 5.9392e-07 6.6298e-07 1 1 0 LRP1 4035 broad.mit.edu 37 12 57605713 57605713 + Missense_Mutation SNP T T C rs140219533 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr12:57605713T>C ENST00000243077.3 + 87 13728 c.13262T>C c.(13261-13263)aTa>aCa p.I4421T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4421 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCCAGATATAGCCTCCATC 0.612000 8 84 0 0 1 0 0 CD79B 0 broad.mit.edu 37 17 62007606 62007606 + Silent SNP G G C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr17:62007606G>C ENST00000006750.3 - 3 350 c.258C>G c.(256-258)ccC>ccG p.P86P CD79B_ENST00000392795.3_Silent_p.P87P|CD79B_ENST00000349817.2_Intron NM_000626.2|NM_021602.2 NP_000617.1|NP_067613.1 P40259 CD79B_HUMAN CD79b molecule, immunoglobulin-associated beta 86 Ig-like V-type. cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 TCAGCTGCTGGGGATTCTCGT 0.562000 """Mis, O""" DLBCL 4 67 0 0 1 0 0 TANK 10010 broad.mit.edu 37 2 162087928 162087928 + Missense_Mutation SNP C C A TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr2:162087928C>A ENST00000392749.2 + 7 1206 c.967C>A c.(967-969)Ctg>Atg p.L323M AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.L323M|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.L323M NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 323 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 CAGGACAACTCTGGATAGAGC 0.428000 4 109 1 1 1 1 0 C6orf62 81688 broad.mit.edu 37 6 24718870 24718870 + Silent SNP T T C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr6:24718870T>C ENST00000378119.4 - 1 2194 c.27A>G c.(25-27)aaA>aaG p.K9K C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 9 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 TCAGAGCTTGTTTCTTCCGGG 0.398000 4 184 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31378928 31378928 + Silent SNP C C T rs41553614 by1000genomes TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr6:31378928C>T ENST00000449934.2 + 3 459 c.405C>T c.(403-405)taC>taT p.Y135Y HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 135 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) ATTTCTACTACGATGGGGAGC 0.552000 7 10 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48806994 48806994 + Missense_Mutation SNP C C T TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr19:48806994C>T ENST00000315396.7 - 8 1472 c.790G>A c.(790-792)Gtg>Atg p.V264M NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 264 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TAGCAAAGCACCAGCCTCTCC 0.622000 11 105 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 677371 677371 + Missense_Mutation SNP T T C TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr18:677371T>C ENST00000319815.6 - 6 1696 c.432A>G c.(430-432)atA>atG p.I144M ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I374M Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 374 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 CAGAAACTGATATGTAGTCAA 0.423000 32 56 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16958545 16958546 + RNA INS - - C rs113787707 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr1:16958545_16958546insC ENST00000412962.1 - 0 74 ggcctcagtttcccatccgtgt 0.550 3 3 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 7 24 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 6 3 --- --- --- --- TMA16 55319 broad.mit.edu 37 4 164435271 164435272 + Frame_Shift_Del DEL AG AG - TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr4:164435271_164435272delAG ENST00000358572.5 + 4 541_542 c.200_201delAG c.(199-201)afs p.K67fs TMA16_ENST00000513272.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000513134.1_Frame_Shift_Del_p.K67fs|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000508268.1_Frame_Shift_Del_p.K67fs NM_018352.2 NP_060822.2 Q96EY4 CD043_HUMAN translation machinery associated 16 homolog (S. cerevisiae) 67 CCCCAAAAAAAGAGATATTCAA 0.366 12 155 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578213 7578214 + Frame_Shift_Del DEL AA AA - TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr17:7578213_7578214delAA ENST00000420246.2 - 6 767_768 c.635_636delTT c.(634-636)tfs p.F212fs TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 212 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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) CACTATGTCGAAAAGTGTTTCT 0.535 111 """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) 52 6 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 48 --- --- --- --- CYP2D6 1565 broad.mit.edu 37 22 42524176 42524178 + Splice_Site DEL CTT CTT - rs28371720 TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chr22:42524176_42524178delCTT ENST00000360608.5 - 5 955_957 c.843_splice c.e5+1 p.K281_splice CYP2D6_ENST00000359033.4_Splice_Site_p.K230_splice|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Splice_Site_p.K281_splice NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 281 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCACTCTCACCTTCTCCATCTCT 0.640 7 11 --- --- --- --- MBTPS2 51360 broad.mit.edu 37 X 21857869 21857871 + In_Frame_Del DEL TGG TGG - TCGA-E1-A7Z4-01A-11D-A34J-08 TCGA-E1-A7Z4-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx dae08874-26ee-4ced-ab72-c2e1272f0140 606721a2-1d09-4bc6-9ebd-26abaf0a327e g.chrX:21857869_21857871delTGG ENST00000365779.2 + 1 98_100 c.17_19delTGG c.(16-21)ctg>c p.LV6del MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 6 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 CCGGTGTCGCTGGTGGTGGTGGT 0.685 2 4 --- --- --- ---