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 ACKR2 1238 broad.mit.edu 37 3 42906480 42906480 + Silent SNP G G T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr3:42906480G>T ENST00000422265.1 + 3 661 c.486G>T c.(484-486)ctG>ctT p.L162L ACKR2_ENST00000273145.2_Silent_p.L162L|ACKR2_ENST00000442925.1_Silent_p.L162L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 CCAAGAGCCTGCTCCTTGCTA 0.537000 30 73 8.58068e-18 9.80649e-18 1 1 0 CDH9 1007 broad.mit.edu 37 5 26903745 26903745 + Splice_Site SNP C C T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr5:26903745C>T ENST00000231021.4 - 6 1172 c.e6+1 NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGAAAAGAAACCTGTTTGACA 0.383000 7 183 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35045227 35045227 + Nonsense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr15:35045227G>A ENST00000290374.4 - 2 894 c.418C>T c.(418-420)Cga>Tga p.R140* NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 140 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTATCTTCTCGTTTGCCCCCA 0.532000 40 132 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 6 143 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19222058 19222058 + Missense_Mutation SNP C C T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr22:19222058C>T ENST00000263200.10 - 7 1213 c.1141G>A c.(1141-1143)Gcc>Acc p.A381T CLTCL1_ENST00000353891.5_Missense_Mutation_p.A381T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A381T NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 381 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GCAACTTTGGCGGCTTCAGCA 0.453000 T ? ALCL 3 31 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 11 52 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133044 91133044 + Missense_Mutation SNP A A G TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chrX:91133044A>G ENST00000373094.1 + 2 2650 c.1805A>G c.(1804-1806)aAt>aGt p.N602S PCDH11X_ENST00000361655.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N602S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N602S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N602S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N602S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 602 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TATGGAGACAATTCTGCAGTT 0.378000 6 63 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486995 36486995 + Silent SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr17:36486995G>A ENST00000342292.4 - 11 2477 c.2457C>T c.(2455-2457)agC>agT p.S819S NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 819 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGTTGTGGGCGCTGGCTGACC 0.652000 5 5 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000463837.1_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 3 24 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156825198 156825198 + Missense_Mutation SNP G G T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr4:156825198G>T ENST00000536354.2 + 2 128 c.64G>T c.(64-66)Ggc>Tgc p.G22C NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 22 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CCCCGTAGAAGGCAGCGAAGA 0.388000 20 36 0.000175454 0.000183083 1 1 0 CEP164 22897 broad.mit.edu 37 11 117280645 117280645 + Missense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr11:117280645G>A ENST00000278935.3 + 30 4207 c.4060G>A c.(4060-4062)Gac>Aac p.D1354N CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1354 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AACGGTGGACGACTTCCTGTT 0.587000 25 61 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142266707 142266707 + Nonsense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr3:142266707G>A ENST00000350721.4 - 16 3338 c.3217C>T c.(3217-3219)Caa>Taa p.Q1073* ATR_ENST00000383101.3_Nonsense_Mutation_p.Q1009* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1073 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGCAATCCTTGGAAATCTTGT 0.348000 Other conserved DNA damage response genes 16 32 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55152040 55152040 + Silent SNP C C T rs2228230 byFrequency TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr4:55152040C>T ENST00000257290.5 + 18 2803 c.2472C>T c.(2470-2472)gtC>gtT p.V824V FIP1L1_ENST00000507166.1_Silent_p.V584V NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 824 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.V824V(15) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTCGCAACGTCCTCCTGGCAC 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 5 117 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16315534 16315534 + Missense_Mutation SNP C C T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr16:16315534C>T ENST00000205557.7 - 2 220 c.191G>A c.(190-192)cGg>cAg p.R64Q ABCC6_ENST00000575728.1_Missense_Mutation_p.R64Q|ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 64 R -> W. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGGGGACATCCGGAGGTAGCC 0.612000 3 35 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28897268 28897268 + Missense_Mutation SNP A A G TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr10:28897268A>G ENST00000375664.3 + 8 1547 c.938A>G c.(937-939)cAg>cGg p.Q313R WAC_ENST00000354911.4_Missense_Mutation_p.Q358R|WAC_ENST00000375646.1_Missense_Mutation_p.Q210R|WAC_ENST00000347934.4_Missense_Mutation_p.Q255R|WAC_ENST00000428935.1_Missense_Mutation_p.Q313R Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 358 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 CCCTTACTTCAGGACCCAAAT 0.453000 3 51 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 43 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 7 141 --- --- --- --- CD74 972 broad.mit.edu 37 5 149784320 149784321 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr5:149784320_149784321delCT ENST00000353334.6 - 6 726_727 c.547_548delAG c.(547-549)cfs p.S183fs CD74_ENST00000009530.7_Frame_Shift_Del_p.S183fs|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 183 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCATCCAGCTCTCAAAGACC 0.559 T ROS1 NSCLC 2 4 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75142141 75142142 + RNA INS - - A rs35519730 TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr7:75142141_75142142insA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 gtctcaaaaagaaaaaaaaaaa 0.421 4 6 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 2 4 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 7 123 --- --- --- --- CPD 1362 broad.mit.edu 37 17 28706683 28706683 + Frame_Shift_Del DEL C C - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr17:28706683delC ENST00000225719.4 + 1 761 c.685delC c.(685-687)ccfs p.P230fs NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 230 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CACCGGCGAACCCCCCGCCCT 0.701 3 5 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 7 100 --- --- --- ---