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 SEPT12 124404 broad.mit.edu 37 16 4834039 4834039 + Silent SNP C C T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr16:4834039C>T ENST00000268231.8 - 5 668 c.405G>A c.(403-405)gaG>gaA p.E135E SEPT12_ENST00000396693.5_Intron NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 135 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GCTCGTATTGCTCGTTGATGT 0.627000 32 75 0 0 1 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601279 55601279 + Missense_Mutation SNP T T C TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr16:55601279T>C ENST00000457326.2 + 1 696 c.611T>C c.(610-612)aTg>aCg p.M204T LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 204 EF-hand 3. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 GATGGAGATATGGATTTTAAC 0.478000 5 169 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30693752 30693752 + Missense_Mutation SNP G G A rs149732438 byFrequency TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr21:30693752G>A ENST00000399921.1 + 2 394 c.151G>A c.(151-153)Gtg>Atg p.V51M BACH1_ENST00000286800.3_Missense_Mutation_p.V51M NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 51 BTB. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TCACCGGTCCGTGCTGGCGGC 0.522000 4 57 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185421 39185421 + Missense_Mutation SNP G G A TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr3:39185421G>A ENST00000273153.5 - 5 1072 c.895C>T c.(895-897)Cgc>Tgc p.R299C CSRNP1_ENST00000514182.1_Missense_Mutation_p.R299C NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 299 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 AACTGCAGGCGGGTGAGTGTG 0.607000 3 26 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 89 0 0 1 0 0 IGHV3-49 0 broad.mit.edu 37 14 107012975 107012975 + RNA SNP A A G TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr14:107012975A>G ENST00000390625.2 - 0 399 CTCGGTTTTCAGGCTGTTCAT 0.517000 5 172 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33279009 33279009 + Missense_Mutation SNP C C T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr17:33279009C>T ENST00000314144.5 - 5 689 c.574G>A c.(574-576)Gaa>Aaa p.E192K CCT6B_ENST00000436961.3_Missense_Mutation_p.E147K|CCT6B_ENST00000421975.3_Missense_Mutation_p.E192K NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 192 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding p.E192Q(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TCCATTATTTCTACCATGAAG 0.318000 4 32 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 5 28 0 0 1 0 0 NMD3 51068 broad.mit.edu 37 3 160967245 160967245 + Missense_Mutation SNP T T G TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr3:160967245T>G ENST00000460469.1 + 13 1662 c.1207T>G c.(1207-1209)Tta>Gta p.L403V NMD3_ENST00000472947.1_Missense_Mutation_p.L403V|NMD3_ENST00000351193.2_Missense_Mutation_p.L403V Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 403 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CTTGCAGGTATTAATCAAGAA 0.363000 3 10 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490925 65490925 + Missense_Mutation SNP C C T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr15:65490925C>T ENST00000261883.4 - 9 1865 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 567 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 ATCTTGATTTCATGGAACACG 0.517000 6 58 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224912 248224912 + Missense_Mutation SNP G G T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr1:248224912G>T ENST00000359959.3 + 1 929 c.929G>T c.(928-930)gGg>gTg p.G310V OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATCTGCTCTGGGAAAATGTAG 0.438000 3 34 0.004672 0.00489448 1 1 0 CCT6B 10693 broad.mit.edu 37 17 33288338 33288338 + Silent SNP G G A TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr17:33288338G>A ENST00000314144.5 - 1 190 c.75C>T c.(73-75)tgC>tgT p.C25C CCT6B_ENST00000436961.3_Silent_p.C25C|CCT6B_ENST00000421975.3_Silent_p.C25C NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 25 AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347). chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) CTCGGGCGGCGCATATATTGA 0.592000 3 35 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913960 23913960 + Missense_Mutation SNP C C T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr13:23913960C>T ENST00000382298.3 - 10 4643 c.4055G>A c.(4054-4056)aGc>aAc p.S1352N SACS_ENST00000402364.1_Missense_Mutation_p.S602N|SACS_ENST00000382292.3_Missense_Mutation_p.S1352N NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1352 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATTTTGTTTGCTTTCTTGTTC 0.368000 5 44 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110436139 110436139 + Missense_Mutation SNP C C A TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr13:110436139C>A ENST00000375856.3 - 1 2776 c.2262G>T c.(2260-2262)gaG>gaT p.E754D NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 754 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CATCTGCATGCTCCATGGACA 0.687000 3 5 0.115264 0.115264 1 1 0 LARP7 51574 broad.mit.edu 37 4 113565889 113565889 + Missense_Mutation SNP G G A TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr4:113565889G>A ENST00000509061.1 + 4 388 c.85G>A c.(85-87)Gaa>Aaa p.E29K LARP7_ENST00000344442.5_Missense_Mutation_p.E22K|LARP7_ENST00000324052.6_Missense_Mutation_p.E22K NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 22 HTH La-type RNA-binding. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) AAAGAAAAAAGAAGTTGAAAA 0.353000 13 38 0 0 1 0 0 RARRES2 0 broad.mit.edu 37 7 150037252 150037252 + Silent SNP C C T TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr7:150037252C>T ENST00000466675.1 - 2 1249 c.216G>A c.(214-216)ctG>ctA p.L72L RARRES2_ENST00000223271.3_Silent_p.L72L|RARRES2_ENST00000482669.1_Silent_p.L72L Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 72 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TTGTCTGCTGCAGCTTAAATT 0.587000 19 427 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134153187 134153187 + Splice_Site SNP A A G TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr5:134153187A>G ENST00000452510.2 + 20 2773 c.2613_splice c.e20-1 p.D872_splice DDX46_ENST00000354283.4_Splice_Site_p.D871_splice NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 871 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TAACTACAGGATGTGATGCAG 0.423000 10 17 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 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 20 43 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 26994255 26994255 + Missense_Mutation SNP G G A TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr10:26994255G>A ENST00000376215.5 + 4 321 c.268G>A c.(268-270)Gaa>Aaa p.E90K PDSS1_ENST00000376203.5_Missense_Mutation_p.E90K NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 90 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 ACACAGTGGTGAAAAATACAC 0.363000 5 25 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032325 4032325 + Missense_Mutation SNP A A G TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr6:4032325A>G ENST00000337659.6 + 2 674 c.574A>G c.(574-576)Act>Gct p.T192A PRPF4B_ENST00000538861.1_Missense_Mutation_p.T178A NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 192 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) CAAAGAACGGACTAGACATAG 0.353000 6 127 0 0 1 0 0 AC018737.1 0 broad.mit.edu 37 2 122466739 122466739 + RNA DEL G G - rs6733674 by1000genomes TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr2:122466739delG ENST00000419902.1 + 0 637 NR_037857.1 tttttttgttgtttttttttt 0.458 4 5 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130394186 130394186 + Frame_Shift_Del DEL C C - TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr3:130394186delC ENST00000358511.6 + 36 6768 c.6737delC c.(6736-6738)tcfs p.S2246fs COL6A6_ENST00000453409.2_Frame_Shift_Del_p.S2246fs NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2246 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGAAGCACCTCCCATACCTTT 0.348 2 4 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226819 65226819 + RNA DEL A A - TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr7:65226819delA ENST00000442266.1 + 0 1167 AATGGGGACCAAAAAAAAAAT 0.353 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 4 2 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 4 9 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594163 3594163 + RNA DEL A A - rs60164526 TCGA-EM-A3SU-01A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 598f5833-ab0a-4167-9c12-80573a106ea8 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr16:3594163delA ENST00000301749.7 - 0 3261 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tgtctcgaggaaaaaaaaaaa 0.488 2 4 --- --- --- ---