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 FAM53C 51307 broad.mit.edu 37 5 137681091 137681091 + Missense_Mutation SNP C C T TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr5:137681091C>T ENST00000513056.1 + 4 337 c.143C>T c.(142-144)gCc>gTc p.A48V FAM53C_ENST00000434981.2_Silent_p.G238G|FAM53C_ENST00000239906.5_Silent_p.G238G|FAM53C_ENST00000507506.1_3'UTR Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 0 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCAGTCTGGGCCCGCAGGCAA 0.677000 7 176 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50779287 50779287 + Silent SNP A A G TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr19:50779287A>G ENST00000440075.2 + 28 3554 c.3507A>G c.(3505-3507)aaA>aaG p.K1169K MYH14_ENST00000425460.1_Silent_p.K1136K|MYH14_ENST00000376970.2_Silent_p.K1161K|MYH14_ENST00000262269.8_Silent_p.K1169K|MYH14_ENST00000601313.1_Silent_p.K1169K|MYH14_ENST00000598205.1_Silent_p.K1136K|MYH14_ENST00000596571.1_Silent_p.K1128K Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1128 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AGCTGCTGAAATCCCTGCGGG 0.662000 17 22 0 0 1 0 0 IL12B 3593 broad.mit.edu 37 5 158749491 158749491 + Silent SNP G G A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr5:158749491G>A ENST00000231228.2 - 4 848 c.393C>T c.(391-393)tgC>tgT p.C131C NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 131 cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTTGGCCTCGCATCTTAGAA 0.383000 12 20 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41012777 41012777 + Missense_Mutation SNP C C T TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr5:41012777C>T ENST00000399564.4 - 30 3493 c.3043G>A c.(3043-3045)Ggt>Agt p.G1015S MROH2B_ENST00000506092.2_Missense_Mutation_p.G570S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTCTCCAGACCGTCCAGCATT 0.478000 40 58 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151124198 151124198 + Missense_Mutation SNP G G C TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chrX:151124198G>C ENST00000370325.1 - 7 972 c.919C>G c.(919-921)Cca>Gca p.P307A GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.P307A P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 307 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GTCCGGGCTGGAGCAGACTCT 0.537000 5 133 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45928328 45928328 + Missense_Mutation SNP C C T TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr7:45928328C>T ENST00000275525.3 + 1 373 c.77C>T c.(76-78)gCt>gTt p.A26V IGFBP1_ENST00000468955.1_Missense_Mutation_p.A26V|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A26V NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 26 IGFBP N-terminal. extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 ACAGCCGGCGCTCCGTGGCAG 0.716000 14 19 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046475 76046475 + Silent SNP G G A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr17:76046475G>A ENST00000335749.4 + 3 1901 c.1332G>A c.(1330-1332)ctG>ctA p.L444L TNRC6C_ENST00000544502.1_Silent_p.L444L|TNRC6C_ENST00000588847.1_Silent_p.L444L|TNRC6C_ENST00000301624.4_Silent_p.L444L|TNRC6C_ENST00000588061.1_Silent_p.L444L|TNRC6C_ENST00000541771.1_Silent_p.L444L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 444 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAAGAGTTCTGTCTAATACTG 0.488000 40 70 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287673 16287673 + Missense_Mutation SNP C C G TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr22:16287673C>G ENST00000343518.6 - 1 264 c.213G>C c.(211-213)tgG>tgC p.W71C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 71 p.W71C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCCCCCTGCACCAGGGGAAGC 0.582000 7 882 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124403405 124403405 + Silent SNP G G A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr12:124403405G>A ENST00000409039.3 + 64 11086 c.11061G>A c.(11059-11061)ctG>ctA p.L3687L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3687 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGCTGTCACTGAAGAAGTCGC 0.537000 24 18 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10360869 10360869 + Missense_Mutation SNP C C T TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr17:10360869C>T ENST00000255381.2 - 16 1875 c.1765G>A c.(1765-1767)Gtg>Atg p.V589M CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 589 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGTAGTCCACGGTGCCGGCA 0.527000 4 102 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121768964 121768964 + Missense_Mutation SNP G G A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr6:121768964G>A ENST00000282561.3 + 2 1128 c.971G>A c.(970-972)gGa>gAa p.G324E NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 324 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) GGGCAGGCGGGAAGCACCATC 0.458000 52 67 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118817130 118817130 + Missense_Mutation SNP T T A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr8:118817130T>A ENST00000378204.2 - 10 2692 c.1886A>T c.(1885-1887)tAt>tTt p.Y629F NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 629 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GTAGTGATAATATCTGTAAAA 0.433000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 21 53 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173456996 173456996 + Missense_Mutation SNP G G T rs1804052 byFrequency TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr1:173456996G>T ENST00000340385.5 + 5 801 c.669G>T c.(667-669)caG>caT p.Q223H PRDX6_ENST00000470017.1_3'UTR NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 223 cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 ACACACCCCAGCCTTAAGTCT 0.483000 31 28 7.11191e-15 7.11191e-15 1 1 0 PC 5091 broad.mit.edu 37 11 66638546 66638546 + Missense_Mutation SNP T T C TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr11:66638546T>C ENST00000393960.1 - 7 891 c.610A>G c.(610-612)Atg>Gtg p.M204V PC_ENST00000355677.3_Missense_Mutation_p.M204V|PC_ENST00000393955.2_Missense_Mutation_p.M204V|PC_ENST00000524491.1_Missense_Mutation_p.M164V|PC_ENST00000393958.2_Missense_Mutation_p.M204V NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 204 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ACCACCCTCATGCCACGCCCT 0.652000 28 47 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10561524 10561524 + Silent SNP G G A TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr19:10561524G>A ENST00000380702.2 + 7 624 c.624G>A c.(622-624)ttG>ttA p.L208L PDE4A_ENST00000440014.2_Silent_p.L169L|PDE4A_ENST00000293683.5_Silent_p.L204L|PDE4A_ENST00000592685.1_Silent_p.L208L|PDE4A_ENST00000352831.6_Silent_p.L230L P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 230 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GTCAGCAGTTGGCCCGGGAGA 0.602000 5 10 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 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 22 29 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 27 --- --- --- --- PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 7 5 --- --- --- --- ANKRD23 200539 broad.mit.edu 37 2 97505817 97505817 + Frame_Shift_Del DEL G G - TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr2:97505817delG ENST00000318357.4 - 7 681 c.640delC c.(640-642)tgfs p.L214fs ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 214 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 GCCACGTGCAGGGGGGTGCTC 0.637 3 4 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-EL-A3ZL-01A-11D-A23M-08 TCGA-EL-A3ZL-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c1ffd6e-4a42-43c5-9e67-04aeab98c23e 136ac5a7-aff2-490d-85db-c40289aba059 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 3 3 --- --- --- ---