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 C1orf162 128346 broad.mit.edu 37 1 112020367 112020367 + Silent SNP C C G TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:112020367C>G ENST00000343534.5 + 5 547 c.297C>G c.(295-297)gcC>gcG p.A99A C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Silent_p.A74A NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 99 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) AGCCCCAGGCCCCAGATCCTC 0.552000 16 92 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94767325 94767325 + Silent SNP G G A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr8:94767325G>A ENST00000453321.3 + 1 241 c.183G>A c.(181-183)tcG>tcA p.S61S TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 61 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) CCGCCCTCTCGTGTGTTCCTT 0.567000 4 138 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 70 0 0 1 0 0 HNRNPD 3184 broad.mit.edu 37 4 83280727 83280727 + Missense_Mutation SNP T T C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr4:83280727T>C ENST00000313899.7 - 3 633 c.356A>G c.(355-357)aAa>aGa p.K119R HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K119R|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K67R|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K100R NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 119 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TTCACCAAATTTGGAAAAGTA 0.383000 15 69 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 4 83 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34261476 34261476 + Missense_Mutation SNP G G A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr18:34261476G>A ENST00000257209.4 + 12 1510 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q FHOD3_ENST00000445677.1_Missense_Mutation_p.R425Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R463Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R638Q|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 463 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GAGAGGCGGCGGCAGGAGAGA 0.433000 11 47 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 27 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193617 7193617 + Missense_Mutation SNP G G A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:7193617G>A ENST00000007699.5 - 5 760 c.697C>T c.(697-699)Cgg>Tgg p.R233W NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 233 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 CGCACAAACCGCCGTCGGTAG 0.652000 65 206 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35748347 35748347 + Missense_Mutation SNP A A C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr9:35748347A>C ENST00000378094.4 - 1 868 c.355T>G c.(355-357)Ttg>Gtg p.L119V GBA2_ENST00000545786.1_Missense_Mutation_p.L119V|GBA2_ENST00000378103.3_Missense_Mutation_p.L119V Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 119 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTCACCTCAAGCCCATGCCT 0.483000 13 39 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 34 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 114 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33292091 33292091 + Nonsense_Mutation SNP A A T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:33292091A>T ENST00000373475.5 + 3 645 c.391A>T c.(391-393)Aaa>Taa p.K131* S100PBP_ENST00000373476.1_Nonsense_Mutation_p.K131*|S100PBP_ENST00000398243.3_Nonsense_Mutation_p.K131*|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 131 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGCTCATACTAAACCATTAAA 0.413000 10 38 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 33 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878400 150878400 + Missense_Mutation SNP G G A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:150878400G>A ENST00000422024.1 - 3 990 c.865C>T c.(865-867)Cgc>Tgc p.R289C ASB10_ENST00000434669.1_Missense_Mutation_p.R289C|ASB10_ENST00000377867.3_Missense_Mutation_p.R229C|ASB10_ENST00000275838.1_Missense_Mutation_p.R244C|ASB10_ENST00000420175.2_Missense_Mutation_p.R244C NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 244 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGGCATTGCGGGCATCAGGA 0.657000 3 45 0 0 1 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62818136 62818136 + RNA SNP G G C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:62818136G>C ENST00000582986.1 - 0 362 NR_024386.1 CTGAAGAATGGGAAATGGAAT 0.572000 5 40 0 0 1 0 0 FOXD2 2306 broad.mit.edu 37 1 47904295 47904295 + Missense_Mutation SNP A A G TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr1:47904295A>G ENST00000334793.5 + 1 2607 c.488A>G c.(487-489)tAc>tGc p.Y163C NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 163 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) CGCTTCCCCTACTACCGGGAG 0.622000 43 108 0 0 1 0 0 LINC00842 0 broad.mit.edu 37 10 47133709 47133709 + RNA SNP G G C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr10:47133709G>C ENST00000422732.2 - 0 435 NR_033957.1 GAACCACTTCGACCTCTTTGG 0.468000 4 89 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35444296 35444296 + Nonsense_Mutation SNP G G A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr20:35444296G>A ENST00000237536.4 - 5 1890 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* SOGA1_ENST00000357779.3_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000279034.5_Nonsense_Mutation_p.Q279*|SOGA1_ENST00000456801.2_Nonsense_Mutation_p.Q120* NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 279 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TCGACAAACTGCAGGTGTCGC 0.667000 5 11 0 0 1 0 0 BTD 686 broad.mit.edu 37 3 15686446 15686446 + Silent SNP T T C TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:15686446T>C ENST00000383778.4 + 4 1381 c.1023T>C c.(1021-1023)ttT>ttC p.F341F BTD_ENST00000303498.5_Silent_p.F361F|BTD_ENST00000437172.1_Silent_p.F363F|BTD_ENST00000449107.1_Silent_p.F363F P43251 BTD_HUMAN biotinidase 361 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 ATAGTAAGTTTTTAAAAATTT 0.473000 30 93 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88260115 88260115 + Silent SNP C C T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr10:88260115C>T ENST00000298767.5 - 3 1357 c.885G>A c.(883-885)acG>acA p.T295T NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 295 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CCCTACAGTACGTCCTACAGT 0.413000 19 119 0 0 1 0 0 PPP1R9B 84687 broad.mit.edu 37 17 48221042 48221042 + Missense_Mutation SNP C C T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr17:48221042C>T ENST00000316878.6 - 5 1542 c.1540G>A c.(1540-1542)Ggg>Agg p.G514R PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA NM_032595.3 NP_115984.3 Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B 514 Interacts with RGS2 (By similarity).|PDZ. cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 ATGTCTGCCCCGGCGCCCATG 0.627000 21 84 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 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 13 53 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 15 0 0 1 0 0 LINC00842 0 broad.mit.edu 37 10 47133727 47133727 + RNA SNP A A G TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr10:47133727A>G ENST00000422732.2 - 0 435 NR_033957.1 TGGCTGGATGAAGCACTAGCC 0.458000 4 97 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 3 6 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62693664 62693664 + RNA DEL T T - TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr7:62693664delT ENST00000451381.1 - 0 181 AGCGATCACCTGAAGGCCACG 0.647 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825852 9825853 + RNA INS - - A TCGA-J8-A3O2-01A-11D-A23M-08 TCGA-J8-A3O2-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ade6333-73db-4993-83a1-00da914ab0c5 899b05a1-7e18-4e92-8cb0-94a6c8efcd64 g.chr21:9825852_9825853insA ENST00000581792.1 + 0 21_22 NR_037421.1 gcggcggtggtggggggagccg 0.837 2 4 --- --- --- ---