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 NPIPB15 440348 broad.mit.edu 37 16 74425727 74425727 + Missense_Mutation SNP T T C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr16:74425727T>C ENST00000429990.1 + 7 1177 c.1081T>C c.(1081-1083)Tgg>Cgg p.W361R nuclear pore complex interacting protein family, member B15 acccaagaggtggagggtgGA 0.587000 4 57 0 0 0.001168 0 0 SPATA32 124783 broad.mit.edu 37 17 43331805 43331805 + Missense_Mutation SNP G G C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr17:43331805G>C ENST00000543122.1 - 7 1861 c.1080C>G c.(1078-1080)atC>atG p.I360M MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.I381M|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA spermatogenesis associated 32 ATTTCTCTGGGATTGTGGGGG 0.507000 8 140 0 0 0.004482 0 0 SLC25A12 8604 broad.mit.edu 37 2 172641902 172641902 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr2:172641902C>T ENST00000422440.2 - 18 1956 c.1919G>A c.(1918-1920)aGa>aAa p.R640K SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 640 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TGTGGCGAGTCTGTATCCACC 0.488000 7 93 0 0 0.001984 0 0 PCSK7 9159 broad.mit.edu 37 11 117090319 117090319 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr11:117090319G>A ENST00000320934.3 - 10 1941 c.1311C>T c.(1309-1311)ttC>ttT p.F437F PCSK7_ENST00000540028.1_Silent_p.F78F NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 437 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GGGTGGCTGTGAAGACAATGA 0.592000 T IGH@ MLCLS 3 28 0 0 0.004672 0 0 TENM2 57451 broad.mit.edu 37 5 167182184 167182184 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr5:167182184G>A ENST00000519204.1 + 1 244 c.126G>A c.(124-126)gtG>gtA p.V42V TENM2_ENST00000520393.1_Intron|TENM2_ENST00000520394.1_Silent_p.V42V|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000518659.1_Intron teneurin transmembrane protein 2 GGAAGGTTGTGATGGAGTCTC 0.483000 5 258 0 0 0.001168 0 0 ZFAT 57623 broad.mit.edu 37 8 135649756 135649756 + Silent SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr8:135649756C>T ENST00000520727.1 - 4 659 c.360G>A c.(358-360)cgG>cgA p.R120R ZFAT_ENST00000520214.1_Silent_p.R120R|ZFAT_ENST00000429442.2_Silent_p.R120R|ZFAT_ENST00000377838.3_Silent_p.R132R|ZFAT_ENST00000520356.1_Silent_p.R120R|ZFAT_ENST00000523399.1_Silent_p.R132R NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGATGTGCTTCCGCAGCTGGC 0.542000 4 50 0 0 0.000248 0 0 STAB1 23166 broad.mit.edu 37 3 52539151 52539151 + Missense_Mutation SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr3:52539151G>A ENST00000321725.6 + 13 1586 c.1510G>A c.(1510-1512)Gat>Aat p.D504N NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 504 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GACCCCTGGGGATCCCAAGGT 0.612000 7 82 0 0 0.001984 0 0 IFITM1 8519 broad.mit.edu 37 11 314246 314246 + Missense_Mutation SNP A A C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr11:314246A>C ENST00000408968.3 + 1 394 c.76A>C c.(76-78)Aac>Cac p.N26H IFITM1_ENST00000328221.5_Missense_Mutation_p.N26H|IFITM1_ENST00000528780.1_Missense_Mutation_p.N26H NM_003641.3 NP_003632.3 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 26 negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity large_intestine(1)|lung(3) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) CACCGTGATCAACATCCACAG 0.572000 3 100 0 0 0.004672 0 0 CTPS2 56474 broad.mit.edu 37 X 16720909 16720909 + Silent SNP G G A TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chrX:16720909G>A ENST00000443824.1 - 2 860 c.117C>T c.(115-117)atC>atT p.I39I CTPS2_ENST00000359276.4_Silent_p.I39I|CTPS2_ENST00000380241.3_Silent_p.I39I NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 39 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) TATAGGGGTCGATTTTTATGG 0.458000 5 71 0 0 0.000602 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 51 0 0 0.004672 0 0 CTPS2 56474 broad.mit.edu 37 X 16720901 16720901 + Missense_Mutation SNP T T C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chrX:16720901T>C ENST00000443824.1 - 2 868 c.125A>G c.(124-126)tAt>tGt p.Y42C CTPS2_ENST00000359276.4_Missense_Mutation_p.Y42C|CTPS2_ENST00000380241.3_Missense_Mutation_p.Y42C NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 42 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) GATGTTAATATAGGGGTCGAT 0.448000 6 74 0 0 0.001168 0 0 SORBS3 10174 broad.mit.edu 37 8 22428458 22428458 + Missense_Mutation SNP G G C TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr8:22428458G>C ENST00000240123.7 + 18 1850 c.1467G>C c.(1465-1467)gaG>gaC p.E489D SORBS3_ENST00000428103.1_Missense_Mutation_p.E147D|SORBS3_ENST00000523740.1_3'UTR NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 489 Binds to vinculin.|SH3 2. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AGGTGAACGAGAACTGGTACG 0.627000 8 55 0 0 0.003080 0 0 OGDHL 55753 broad.mit.edu 37 10 50954867 50954867 + Missense_Mutation SNP C C G TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr10:50954867C>G ENST00000374103.4 - 10 1310 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q OGDHL_ENST00000432695.1_Missense_Mutation_p.E200Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.E352Q NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 409 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGGAAGGTCTCATATACCACG 0.637000 4 47 0 0 0.000248 0 0 PDE12 201626 broad.mit.edu 37 3 57543396 57543396 + Silent SNP G G A rs140975906 by1000genomes TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr3:57543396G>A ENST00000311180.8 + 1 1393 c.1290G>A c.(1288-1290)caG>caA p.Q430Q PDE12_ENST00000487257.1_Silent_p.Q430Q NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 430 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) AGGTGCTCCAGAGATCTTCTG 0.498000 4 52 0 0 0.000602 0 0 WDTC1 23038 broad.mit.edu 37 1 27620562 27620562 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr1:27620562C>T ENST00000319394.3 + 8 1247 c.712C>T c.(712-714)Cgg>Tgg p.R238W WDTC1_ENST00000361771.3_Missense_Mutation_p.R238W NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 238 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CTTCTGTGACCGGCAGAAACC 0.547000 5 62 0 0 0.001168 0 0 ABCA3 21 broad.mit.edu 37 16 2373655 2373655 + Missense_Mutation SNP C C T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr16:2373655C>T ENST00000301732.5 - 7 1182 c.482G>A c.(481-483)aGa>aAa p.R161K ABCA3_ENST00000382381.3_Missense_Mutation_p.R161K|ABCA3_ENST00000567910.1_Missense_Mutation_p.R161K NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 161 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CATGTAATTTCTCCGTGTGTA 0.493000 11 422 0 0 0.001368 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c 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 10 76 0 0 0.008291 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 9 1.23904e-05 1.9329e-05 0.000602 1 0 SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 11 16 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-DJ-A1QM-01A-11D-A14W-08 TCGA-DJ-A1QM-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78d419c4-d242-4240-882b-cd6b7fd46b5e b9eed02e-175a-4e22-91d2-78ad9b5ccd0c g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 3 3 --- --- --- ---