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 ADAMTS9 56999 broad.mit.edu 37 3 64619453 64619453 + Missense_Mutation SNP C C A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr3:64619453C>A ENST00000498707.1 - 13 2301 c.1959G>T c.(1957-1959)caG>caT p.Q653H ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q625H NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 653 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AGTGAGCACACTGTTCATCTC 0.453000 16 151 6.31663e-08 6.99341e-08 1 1 0 BFAR 51283 broad.mit.edu 37 16 14761536 14761536 + Missense_Mutation SNP C C T TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:14761536C>T ENST00000261658.2 + 8 1482 c.1205C>T c.(1204-1206)aCg>aTg p.T402M BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 402 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 AAAGTATCAACGCAGGGGCTT 0.488000 22 94 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5867413 5867413 + Silent SNP G G A rs148489400 by1000genomes TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:5867413G>A ENST00000252675.5 - 5 886 c.324C>T c.(322-324)gcC>gcT p.A108A FUT5_ENST00000588525.1_Silent_p.A108A Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 108 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 CACTGGAGTCGGCAGTGATGT 0.642000 4 76 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72733183 72733183 + Missense_Mutation SNP C C A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr17:72733183C>A ENST00000392614.4 + 1 128 c.35C>A c.(34-36)cCg>cAg p.P12Q RAB37_ENST00000528438.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.P12Q NM_001163989.1 NP_001157461.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GGAGCCGAGCCGGTGTTGCTC 0.731000 3 20 0.150653 0.155675 1 1 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 9 126 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 5 40 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141059 20141059 + Missense_Mutation SNP C C T TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr1:20141059C>T ENST00000375121.2 - 1 712 c.536G>A c.(535-537)cGa>cAa p.R179Q RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 179 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGCACCCATCGTAAGACACC 0.642000 5 59 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508910 48508910 + Missense_Mutation SNP G G A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr3:48508910G>A ENST00000296443.9 + 3 1743 c.856G>A c.(856-858)Ggg>Agg p.G286R TREX1_ENST00000422277.2_Missense_Mutation_p.G341R|TREX1_ENST00000433541.1_Missense_Mutation_p.G147R|TREX1_ENST00000436480.2_Missense_Mutation_p.G286R|TREX1_ENST00000444177.1_Missense_Mutation_p.G276R|TREX1_ENST00000456089.1_Missense_Mutation_p.G147R Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 341 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ATCCAGGGAGGGGCTGCTGGC 0.607000 5 62 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38991503 38991503 + Missense_Mutation SNP C C T TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:38991503C>T ENST00000355481.4 + 47 7618 c.7487C>T c.(7486-7488)cCg>cTg p.P2496L RYR1_ENST00000359596.3_Missense_Mutation_p.P2496L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2496L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2496 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCTTCGTGCCGGACCACAAG 0.642000 7 44 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823832 38823832 + Silent SNP A A C TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr22:38823832A>C ENST00000303592.3 - 2 564 c.306T>G c.(304-306)ggT>ggG p.G102G NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 102 Poly-Gly.|Val/Gly/Ala/Pro stretch. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CTCCGCCACCAcccgccgccg 0.687000 9 26 0 0 1 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62817956 62817956 + RNA SNP G G A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr17:62817956G>A ENST00000582986.1 - 0 542 NR_024386.1 TGGGCTCCTCGCAATGGTCTG 0.562000 3 33 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185327074 185327074 + Silent SNP T T C TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr3:185327074T>C ENST00000296257.5 + 7 898 c.658T>C c.(658-660)Ttg>Ctg p.L220L SENP2_ENST00000427465.2_Silent_p.L44L|SENP2_ENST00000545472.1_Silent_p.L210L NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 220 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CCGAAAGTTATTGGAACGACT 0.358000 7 74 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406386 3406386 + Missense_Mutation SNP G G C TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:3406386G>C ENST00000304936.2 + 1 498 c.446G>C c.(445-447)tGc>tCc p.C149S NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 149 C -> W (in dbSNP:rs1218763). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTGATTGCCTGCCTGGGTGGC 0.617000 8 74 0 0 1 0 0 SH2D7 646892 broad.mit.edu 37 15 78393483 78393483 + Silent SNP G G A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr15:78393483G>A ENST00000328828.5 + 5 888 c.888G>A c.(886-888)ggG>ggA p.G296G SH2D7_ENST00000409568.2_Silent_p.G160G NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 296 endometrium(2)|kidney(2)|lung(3) 7 ATGGCCTGGGGCCTGTCCTTT 0.637000 4 30 0 0 1 0 0 ADPGK 83440 broad.mit.edu 37 15 73044692 73044692 + Missense_Mutation SNP G G A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr15:73044692G>A ENST00000311669.8 - 7 1574 c.1481C>T c.(1480-1482)cCt>cTt p.P494L ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 495 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 CTAATAGTGAGGGTGTACTTC 0.433000 5 33 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96232138 96232138 + Missense_Mutation SNP G G A TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr5:96232138G>A ENST00000437043.3 + 8 2012 c.1301G>A c.(1300-1302)cGc>cAc p.R434H ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.R389H NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 434 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AATTCATCCCGCCCTATCTCC 0.358000 3 37 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55618430 55618430 + Missense_Mutation SNP G G T rs60954195 TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr14:55618430G>T ENST00000247191.2 - 17 2567 c.2351C>A c.(2350-2352)aCt>aAt p.T784N DLGAP5_ENST00000395425.2_Missense_Mutation_p.T784N NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 784 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 AGAAATTTTAGTTTCCCCTTC 0.313000 5 40 0.184627 0.184627 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 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 25 61 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488523 108488523 + Missense_Mutation SNP A A G TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr2:108488523A>G ENST00000408999.3 + 20 4140 c.4063A>G c.(4063-4065)Aaa>Gaa p.K1355E RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1355 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GGAAAATGAAAAAGTTGTTTT 0.363000 20 245 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 2 4 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 5 7 --- --- --- --- RP11-405A12.2 0 broad.mit.edu 37 12 20096042 20096042 + RNA DEL A A - TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr12:20096042delA ENST00000535764.1 + 0 212 ACAAGCTGTTAAAAAAAAAAT 0.303 3 3 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr16:90161966delT ENST00000567960.1 + 0 702 TUBB8P7_ENST00000564451.1_RNA CTACCATGAGTTGGGGTCACC 0.542 7 0 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 6 13 --- --- --- --- AC006293.3 0 broad.mit.edu 37 19 55221804 55221805 + RNA INS - - AC rs45583536 TCGA-EM-A2CS-06A-11D-A19J-08 TCGA-EM-A2CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46efe84b-e856-4b4d-a1fa-578578741495 6a6fd1e9-9604-4d58-a7a7-3ce60b565972 g.chr19:55221804_55221805insAC ENST00000413439.1 + 0 1415 CAGAGACAGAGACTGAGGGTCC 0.614 5 5 --- --- --- ---