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 RTN3 10313 broad.mit.edu 37 11 63487681 63487681 + Silent SNP T T C TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr11:63487681T>C ENST00000377819.5 + 3 1861 c.1707T>C c.(1705-1707)ccT>ccC p.P569P RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.P457P|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 569 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAGATCAGCCTGATATTCTTG 0.413000 3 47 0 0 0.004672 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 113 0 0 0.001168 0 0 MAATS1 89876 broad.mit.edu 37 3 119428733 119428733 + Missense_Mutation SNP C C T TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr3:119428733C>T ENST00000273390.5 + 5 568 c.491C>T c.(490-492)gCc>gTc p.A164V MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTTGTTTATGCCGTATCCAAG 0.328000 3 49 0 0 0.000248 0 0 TRERF1 55809 broad.mit.edu 37 6 42236552 42236552 + Silent SNP C C T TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr6:42236552C>T ENST00000541110.1 - 5 1345 c.777G>A c.(775-777)caG>caA p.Q259Q TRERF1_ENST00000372922.4_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 259 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTTGCATGTGCTGTGACAGCA 0.582000 3 52 0 0 0.004672 0 0 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 2 6 0 0 0.004672 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 3 78 0 0 0.004672 0 0 TOP2A 7153 broad.mit.edu 37 17 38552660 38552660 + Missense_Mutation SNP T T C TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr17:38552660T>C ENST00000423485.1 - 28 3753 c.3595A>G c.(3595-3597)Aag>Gag p.K1199E NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1199 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CCCTTGGCCTTCCCCCCTTTC 0.428000 3 60 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc 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 5 26 0 0 0.001168 0 0 UNC5A 90249 broad.mit.edu 37 5 176304656 176304656 + Missense_Mutation SNP C C G TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr5:176304656C>G ENST00000329542.4 + 10 1861 c.1587C>G c.(1585-1587)gaC>gaG p.D529E UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 529 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGCCCTGACAGCTGGAGCC 0.647000 3 35 0 0 0.000248 0 0 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 2 6 0 0 0.004672 0 0 RTN3 10313 broad.mit.edu 37 11 63487681 63487681 + Silent SNP T T C TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr11:63487681T>C ENST00000377819.5 + 3 1861 c.1707T>C c.(1705-1707)ccT>ccC p.P569P RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Silent_p.P550P|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Silent_p.P457P NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 569 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 AAGATCAGCCTGATATTCTTG 0.413000 3 47 0 0 0.004672 0 0 TOP2A 7153 broad.mit.edu 37 17 38552660 38552660 + Missense_Mutation SNP T T C TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr17:38552660T>C ENST00000423485.1 - 28 3753 c.3595A>G c.(3595-3597)Aag>Gag p.K1199E NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1199 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CCCTTGGCCTTCCCCCCTTTC 0.428000 3 60 0 0 0.004672 0 0 TRERF1 55809 broad.mit.edu 37 6 42236552 42236552 + Silent SNP C C T TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr6:42236552C>T ENST00000541110.1 - 5 1345 c.777G>A c.(775-777)caG>caA p.Q259Q TRERF1_ENST00000372922.4_Silent_p.Q259Q|TRERF1_ENST00000340840.2_Silent_p.Q259Q|TRERF1_ENST00000372917.4_Silent_p.Q259Q|TRERF1_ENST00000354325.2_Silent_p.Q259Q Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 259 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTTGCATGTGCTGTGACAGCA 0.582000 3 52 0 0 0.004672 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 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 5 26 0 0 0.001168 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr18:3188908T>C ENST00000356443.4 - 4 942 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 3 63 0 0 0.004672 0 0 UNC5A 90249 broad.mit.edu 37 5 176304656 176304656 + Missense_Mutation SNP C C G TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr5:176304656C>G ENST00000329542.4 + 10 1861 c.1587C>G c.(1585-1587)gaC>gaG p.D529E UNC5A_ENST00000261961.3_Missense_Mutation_p.D489E NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 529 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGCCCTGACAGCTGGAGCC 0.647000 3 35 0 0 0.000248 0 0 ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 394411ff-b0f2-4e4a-b5a3-843a397d00dc g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 2 4 --- --- --- --- ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agt>ag p.SSGS92del ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 10 15 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 7 72 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805472 21805473 + In_Frame_Ins INS - - CCTCCT TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr10:21805472_21805473insCCTCCT ENST00000449193.2 - 4 3531_3532 c.1279_1280insAGGAGG c.(1279-1281)gga>AGGAGGgga p.426_427insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.347_348insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 GCccccctcctcctcctcttcc 0.614 2 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-GE-A2C6-01A-11D-A17V-08 TCGA-GE-A2C6-11A-11D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51f6ca4f-fc2a-4c99-830c-e9e09c255e80 80bdafd1-9062-4fec-840c-83a4f0e9ee84 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 16 168 --- --- --- ---