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 GDI1 2664 broad.mit.edu 37 X 153670074 153670074 + Missense_Mutation SNP C C G TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chrX:153670074C>G ENST00000447750.2 + 8 1259 c.924C>G c.(922-924)atC>atG p.I308M NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 308 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding p.I308M(1) autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCACCCCATCAAGAACACCA 0.582000 11 96 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125487437 125487437 + Silent SNP C C T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr8:125487437C>T ENST00000303545.3 + 1 459 c.87C>T c.(85-87)ccC>ccT p.P29P NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 29 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TCCGGGTGCCCTGCCTTTACA 0.647000 8 80 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49897820 49897820 + Missense_Mutation SNP G G C TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr19:49897820G>C ENST00000447857.3 + 3 336 c.131G>C c.(130-132)tGt>tCt p.C44S NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 44 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TTCGAAGCTTGTGACCCTCAG 0.627000 3 73 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133483733 133483733 + Missense_Mutation SNP G G A TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr3:133483733G>A ENST00000402696.3 + 11 1797 c.1312G>A c.(1312-1314)Gag>Aag p.E438K TF_ENST00000264998.3_Missense_Mutation_p.E311K NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 438 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CGATAATTGTGAGGATACACC 0.363000 4 70 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170100 32170100 + Missense_Mutation SNP A A G TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr6:32170100A>G ENST00000375023.3 - 21 3646 c.3508T>C c.(3508-3510)Tgt>Cgt p.C1170R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1170 EGF-like 29. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGTTTCTGACACCGGGGCCCT 0.652000 7 39 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 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 3 38 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 32 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74594021 74594021 + Silent SNP C C T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr2:74594021C>T ENST00000361874.3 - 21 2672 c.2355G>A c.(2353-2355)cgG>cgA p.R785R DCTN1_ENST00000407639.2_Silent_p.R651R|DCTN1_ENST00000409567.3_Silent_p.R765R|DCTN1_ENST00000394003.3_Silent_p.R778R|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409438.1_Silent_p.R651R|DCTN1_ENST00000409868.1_Silent_p.R768R|DCTN1_ENST00000409240.1_Silent_p.R748R NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 785 R -> W (in susceptibility to amyotrophic lateral sclerosis). cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TTTCCAGATCCCGGAGCAGGA 0.532000 5 36 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079260 31079260 + Silent SNP G G T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr6:31079260G>T ENST00000259870.3 - 2 879 c.876C>A c.(874-876)atC>atA p.I292I NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 292 Pro-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATGGGTTATTGATACCTGGGT 0.532000 5 38 0.00116845 0.00116845 1 1 0 HEATR1 55127 broad.mit.edu 37 1 236721596 236721596 + Silent SNP C C G TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr1:236721596C>G ENST00000366582.3 - 36 5259 c.5145G>C c.(5143-5145)ctG>ctC p.L1715L HEATR1_ENST00000366581.2_Silent_p.L1634L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1715 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTATGCACAGCAGCGCGCTTC 0.572000 5 60 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42747203 42747203 + Missense_Mutation SNP C C G TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr20:42747203C>G ENST00000372980.3 - 3 2102 c.1230G>C c.(1228-1230)caG>caC p.Q410H NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 410 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGTTGGACTCCTGGTTGGCAG 0.617000 15 126 0 0 1 0 0 NACAP1 0 broad.mit.edu 37 8 102381146 102381146 + RNA SNP C C T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr8:102381146C>T ENST00000419462.1 + 0 558 NR_002182.1 AAATGCCTGGCGAAGCCACAG 0.567000 4 23 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60734000 60734000 + Splice_Site SNP T T C TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr20:60734000T>C ENST00000370848.4 + 1 155 c.e1+2 SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) AGCACGGAGGTCAGATATGTC 0.627000 T SSX1 synovial sarcoma 6 137 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74290656 74290656 + Silent SNP C C T TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr15:74290656C>T ENST00000565898.1 + 2 525 c.441C>T c.(439-441)ctC>ctT p.L147L PML_ENST00000354026.6_Silent_p.L147L|PML_ENST00000359928.4_Silent_p.L147L|PML_ENST00000268058.3_Silent_p.L147L|PML_ENST00000569965.1_Silent_p.L147L|PML_ENST00000567543.1_Silent_p.L147L|PML_ENST00000564428.1_Silent_p.L147L|PML_ENST00000569477.1_Silent_p.L147L|PML_ENST00000563500.1_Silent_p.L147L|PML_ENST00000268059.6_Silent_p.L147L|PML_ENST00000435786.2_Silent_p.L147L|PML_ENST00000436891.3_Silent_p.L147L|PML_ENST00000395132.2_Silent_p.L147L|PML_ENST00000395135.3_Silent_p.L147L P29590 PML_HUMAN promyelocytic leukemia 147 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 AGCAGCTCCTCTGCGCCAAGT 0.642000 T """RARA, PAX5""" """APL, ALL""" 5 25 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101872153 101872153 + Missense_Mutation SNP G G A TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr15:101872153G>A ENST00000348070.1 - 15 1938 c.1939C>T c.(1939-1941)Cgg>Tgg p.R647W PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R647W NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 648 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCAGCATCCGCGAGCGGGAC 0.572000 5 24 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 6 185 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 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 7 32 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388421 1388421 + Missense_Mutation SNP G G C TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr4:1388421G>C ENST00000324803.4 + 1 3082 c.122G>C c.(121-123)gGa>gCa p.G41A NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 41 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGTCGATGCGGAGTGCCCGCC 0.652000 19 240 0 0 1 0 0 ERCC8 1161 broad.mit.edu 37 5 60170512 60170513 + Splice_Site INS - - A TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr5:60170512_60170513insA ENST00000426742.2 - 13 1383 c.e13-2 ERCC8_ENST00000265038.5_Splice_Site|ERCC8_ENST00000462279.1_Splice_Site|ERCC8_ENST00000543101.1_Splice_Site Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) TGTTGTAGTCTAAAAAAAAAAA 0.302 3 5 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 4 2 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-J8-A3YD-01A-11D-A22Z-08 TCGA-J8-A3YD-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97bafc6f-f6e5-4c20-a95b-6c876f6ade10 073b36fb-8de3-49fd-90aa-fadc538d6809 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 5 --- --- --- ---