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 C4orf40 401137 broad.mit.edu 37 4 71024450 71024450 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr4:71024450G>A ENST00000344526.5 + 3 670 c.481G>A c.(481-483)Gag>Aag p.E161K C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E161K NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 161 Ala-rich. extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GCCTGCTGCAGAGGCACCTGT 0.622000 5 66 0 0 0.000602 0 0 DDX5 1655 broad.mit.edu 37 17 62496218 62496218 + Silent SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr17:62496218G>A ENST00000225792.5 - 13 2069 c.1668C>T c.(1666-1668)acC>acT p.T556T DDX5_ENST00000578804.1_Silent_p.T556T|DDX5_ENST00000450599.2_Silent_p.T477T NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 556 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCCTAAAACTGGTCTGTATAC 0.403000 T ETV4 prostate 4 94 0 0 0.000248 0 0 TAF6L 10629 broad.mit.edu 37 11 62546414 62546414 + Silent SNP G G C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr11:62546414G>C ENST00000294168.3 + 6 711 c.510G>C c.(508-510)ggG>ggC p.G170G TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 170 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 CTGTGCTAGGGGATGATCCGC 0.483000 3 124 0 0 0.004672 0 0 SP140L 93349 broad.mit.edu 37 2 231264857 231264857 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr2:231264857G>A ENST00000243810.6 + 15 1213 c.1213G>A c.(1213-1215)Gag>Aag p.E405K SP140L_ENST00000396563.4_Missense_Mutation_p.E370K|SP140L_ENST00000415673.2_Missense_Mutation_p.E405K|SP140L_ENST00000444636.1_Missense_Mutation_p.E405K Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 405 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAACTTGGATGAGTGTGAGGT 0.512000 21 80 0 0 0.002780 0 0 VCL 7414 broad.mit.edu 37 10 75868775 75868775 + Missense_Mutation SNP A A G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr10:75868775A>G ENST00000211998.4 + 18 2700 c.2606A>G c.(2605-2607)gAg>gGg p.E869G VCL_ENST00000417648.2_Splice_Site|VCL_ENST00000372755.3_Missense_Mutation_p.E869G NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 869 Linker (Pro-rich).|Pro-rich. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CCTGAAGGTGAGGTCCCTCCA 0.512000 3 94 0 0 0.000248 0 0 ALPK2 115701 broad.mit.edu 37 18 56149135 56149135 + Missense_Mutation SNP T T C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr18:56149135T>C ENST00000361673.3 - 13 6646 c.6433A>G c.(6433-6435)Att>Gtt p.I2145V NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2145 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTTTCCCAATGCTCGGCTGC 0.433000 5 95 0 0 0.000602 0 0 ZNF234 10780 broad.mit.edu 37 19 44662001 44662001 + Missense_Mutation SNP T T C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr19:44662001T>C ENST00000426739.2 + 6 2090 c.1832T>C c.(1831-1833)cTc>cCc p.L611P ZNF234_ENST00000592437.1_Missense_Mutation_p.L611P NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) GCCTCAAGTCTCCAACTTCAT 0.463000 3 124 0 0 0.004672 0 0 MLIP 90523 broad.mit.edu 37 6 53989598 53989598 + Missense_Mutation SNP G G T TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr6:53989598G>T ENST00000514921.1 + 3 660 c.547G>T c.(547-549)Gat>Tat p.D183Y MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.D131Y|MLIP_ENST00000502396.1_Missense_Mutation_p.D194Y|MLIP_ENST00000509997.1_Missense_Mutation_p.D131Y|MLIP_ENST00000274897.5_Missense_Mutation_p.D183Y|MLIP_ENST00000370876.2_Missense_Mutation_p.D121Y|MLIP_ENST00000358276.5_Missense_Mutation_p.D177Y Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 183 nuclear envelope|PML body protein binding p.D183N(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 ACAGGGGACTGATCTCAAGAC 0.542000 5 66 0.000602214 0.000817291 0.000602 1 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 115 0 0 0.001168 0 0 ST13 6767 broad.mit.edu 37 22 41231667 41231667 + Missense_Mutation SNP C C T TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr22:41231667C>T ENST00000216218.3 - 7 956 c.475G>A c.(475-477)Gtc>Atc p.V159I NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 159 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 TGTAATTTGACGAAGACACTG 0.383000 4 181 0 0 0.000248 0 0 ENPP2 0 broad.mit.edu 37 8 120575112 120575112 + Missense_Mutation SNP G G T rs61740048 byFrequency TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr8:120575112G>T ENST00000427067.2 - 25 2649 c.2469C>A c.(2467-2469)aaC>aaA p.N823K ENPP2_ENST00000259486.6_Missense_Mutation_p.N854K|ENPP2_ENST00000075322.6_Missense_Mutation_p.N802K|ENPP2_ENST00000522167.1_Missense_Mutation_p.N437K|ENPP2_ENST00000522826.1_Missense_Mutation_p.N827K Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 802 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.N854N(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGCTCTCCTCGTTGTCAGGCC 0.478000 8 74 0.00448238 0.00567768 0.004482 1 0 SPANXN5 494197 broad.mit.edu 37 X 52825587 52825587 + Silent SNP A A G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chrX:52825587A>G ENST00000375511.3 - 2 912 c.160T>C c.(160-162)Ttg>Ctg p.L54L NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 54 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) CTGTAGCACAACACTAATACT 0.418000 4 150 0 0 0.000248 0 0 HEATR5A 25938 broad.mit.edu 37 14 31765218 31765218 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr14:31765218G>A ENST00000543095.2 - 34 5700 c.5516C>T c.(5515-5517)aCa>aTa p.T1839I RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.T1546I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.T1758I|HEATR5A_ENST00000389961.3_Missense_Mutation_p.T1833I NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1833 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AATAAACACTGTGATAGCAGT 0.348000 16 88 0 0 0.004990 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130286920 130286920 + Silent SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr11:130286920G>A ENST00000257359.6 - 3 1717 c.1011C>T c.(1009-1011)atC>atT p.I337I NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 337 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AAATGGTCCCGATGTCTGCCA 0.597000 4 120 0 0 0.000248 0 0 KDM3A 55818 broad.mit.edu 37 2 86705781 86705781 + Missense_Mutation SNP A A G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr2:86705781A>G ENST00000409556.1 + 16 2604 c.2239A>G c.(2239-2241)Ata>Gta p.I747V KDM3A_ENST00000312912.5_Missense_Mutation_p.I747V|KDM3A_ENST00000542128.1_Missense_Mutation_p.I695V|KDM3A_ENST00000409064.1_Missense_Mutation_p.I747V Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 747 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GAAATGGGGAATAAAGGCAAA 0.388000 11 80 0 0 0.008291 0 0 TTI1 9675 broad.mit.edu 37 20 36625191 36625191 + Silent SNP G G C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr20:36625191G>C ENST00000373448.2 - 7 3196 c.2958C>G c.(2956-2958)gtC>gtG p.V986V TTI1_ENST00000449821.1_Silent_p.V986V|TTI1_ENST00000373447.3_Silent_p.V986V NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 986 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GGCCCTGTAAGACAGCCAGCT 0.602000 38 131 0 0 0.006230 0 0 NALCN 259232 broad.mit.edu 37 13 101795522 101795522 + Missense_Mutation SNP C C G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr13:101795522C>G ENST00000251127.6 - 17 2108 c.2027G>C c.(2026-2028)tGc>tCc p.C676S NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 676 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTCAGGAGGCAACATGTGTC 0.468000 8 96 0 0 0.003080 0 0 DOK1 1796 broad.mit.edu 37 2 74784179 74784179 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr2:74784179G>A ENST00000233668.5 + 5 2053 c.1384G>A c.(1384-1386)Gac>Aac p.D462N DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.D323N NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 462 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGGGAGCTGGGACTGTGGGCT 0.592000 6 64 0 0 0.001984 0 0 RGS12 6002 broad.mit.edu 37 4 3430427 3430427 + Missense_Mutation SNP A A T TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr4:3430427A>T ENST00000336727.3 + 16 4458 c.3554A>T c.(3553-3555)gAc>gTc p.D1185V RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Missense_Mutation_p.D537V|RGS12_ENST00000382788.3_Missense_Mutation_p.D1185V|RGS12_ENST00000344733.5_Missense_Mutation_p.D1185V|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1185 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATTAATTTGGACGAAGCAGAG 0.358000 3 65 0 0 0.000248 0 0 RAB40C 57799 broad.mit.edu 37 16 676071 676071 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr16:676071G>A ENST00000535977.1 + 6 737 c.515G>A c.(514-516)cGc>cAc p.R172H RAB40C_ENST00000248139.3_Missense_Mutation_p.R172H|RAB40C_ENST00000539661.1_Missense_Mutation_p.R172H|RAB40C_ENST00000538492.1_Missense_Mutation_p.R172H NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 172 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) GAGCTATCCCGCATCGTGCTC 0.647000 4 106 0 0 0.000602 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 40 0 0 0.001168 0 0 OVCH1 341350 broad.mit.edu 37 12 29607866 29607866 + Splice_Site SNP C C A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr12:29607866C>A ENST00000318184.5 - 21 2437 c.2437_splice c.e21-1 p.G813_splice OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 813 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGAAGCAGGACCTGTATTTGG 0.378000 3 24 0.004672 0.00578922 0.004672 1 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 6 73 0 0 0.001368 0 0 HMGB3 3149 broad.mit.edu 37 X 150155679 150155679 + Silent SNP G G C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chrX:150155679G>C ENST00000325307.7 + 4 465 c.369G>C c.(367-369)gtG>gtC p.V123V HMGB3_ENST00000448905.2_Silent_p.V123V NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 123 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) TTGGAGACGTGGCAAAAAAGC 0.428000 4 54 0 0 0.000248 0 0 IGHV3-16 0 broad.mit.edu 37 14 106622271 106622271 + RNA SNP C C G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr14:106622271C>G ENST00000390604.2 - 0 120 TGTCCACTCACTCAATATCCT 0.453000 6 128 0 0 0.001168 0 0 GPR45 11250 broad.mit.edu 37 2 105859029 105859029 + Silent SNP G G C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr2:105859029G>C ENST00000258456.1 + 1 830 c.714G>C c.(712-714)ctG>ctC p.L238L NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 238 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GCCTGGACCTGCGGCAGCTCA 0.647000 3 80 0 0 0.004672 0 0 DNAH9 1770 broad.mit.edu 37 17 11726231 11726231 + Missense_Mutation SNP G G T TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr17:11726231G>T ENST00000262442.3 + 48 9194 c.9126G>T c.(9124-9126)aaG>aaT p.K3042N DNAH9_ENST00000454412.2_Missense_Mutation_p.K3042N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3042 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAACTCCCAAGTCCTTTCTGG 0.478000 5 91 3.59834e-05 5.12763e-05 0.001168 1 0 EPS15L1 58513 broad.mit.edu 37 19 16496012 16496012 + Silent SNP T T A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr19:16496012T>A ENST00000455140.2 - 21 2241 c.2175A>T c.(2173-2175)ggA>ggT p.G725G EPS15L1_ENST00000248070.6_Silent_p.G725G|EPS15L1_ENST00000594975.1_Silent_p.G727G|EPS15L1_ENST00000535753.2_Silent_p.G725G NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 725 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GATCTAAGGTTCCAAAGGGAT 0.542000 5 129 0 0 0.000602 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924439 105924439 + Missense_Mutation SNP T T C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr11:105924439T>C ENST00000526793.1 - 3 1136 c.977A>G c.(976-978)cAa>cGa p.Q326R KBTBD3_ENST00000534815.1_Missense_Mutation_p.Q247R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.Q326R NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 322 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CAGGTGTGATTGCGGCAGTAT 0.363000 14 79 0 0 0.004990 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 3 115 0 0 0.001168 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 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 25 55 0 0 0.003330 0 0 PRDM4 11108 broad.mit.edu 37 12 108134795 108134795 + Missense_Mutation SNP G G A TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr12:108134795G>A ENST00000228437.5 - 10 2311 c.1852C>T c.(1852-1854)Cac>Tac p.H618Y RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 618 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TCACACTTGTGGGGCTTCATA 0.473000 4 167 0 0 0.000248 0 0 DLG5 9231 broad.mit.edu 37 10 79580906 79580906 + Silent SNP C C T TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr10:79580906C>T ENST00000372391.2 - 15 3341 c.3336G>A c.(3334-3336)cgG>cgA p.R1112R DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1112 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CAGATTTTGGCCGGCGACGCT 0.602000 4 64 0 0 0.000248 0 0 DISP2 85455 broad.mit.edu 37 15 40655938 40655938 + Missense_Mutation SNP A A C TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr15:40655938A>C ENST00000267889.3 + 2 319 c.232A>C c.(232-234)Acc>Ccc p.T78P NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 78 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) AACAACTTCCACCCTCCAGCC 0.657000 8 53 0 0 0.001882 0 0 AC074391.1 0 broad.mit.edu 37 2 65738847 65738848 + RNA DEL TT TT - rs111377658 TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr2:65738847_65738848delTT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTTT 0.297 3 4 --- --- --- --- KAT2B 8850 broad.mit.edu 37 3 20113852 20113853 + Frame_Shift_Ins INS - - G TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr3:20113852_20113853insG ENST00000263754.4 + 2 786_787 c.331_332insG c.(331-333)gaafs p.E111fs KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 111 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 ATGTAATGGCTGGAAAAACCCT 0.455 10 165 --- --- --- --- SPATA31D5P 0 broad.mit.edu 37 9 84528568 84528568 + RNA DEL A A - TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr9:84528568delA ENST00000527857.1 + 0 217 NR_026851.1 AATGATATCCAAAAGGTAAGG 0.398 4 4 --- --- --- --- RP11-65M17.3 0 broad.mit.edu 37 11 112332121 112332121 + RNA DEL T T - TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr11:112332121delT ENST00000528496.1 + 0 231 TGATTTTATGTTTTTTTTTTT 0.378 2 4 --- --- --- --- RP11-19P22.5 0 broad.mit.edu 37 17 25988693 25988702 + RNA DEL CACAGGTGGC CACAGGTGGC - rs3217511 TCGA-E8-A242-01A-21D-A16O-08 TCGA-E8-A242-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79767c4-0323-44fd-bcf1-0b7619f11f36 cfdba246-27f6-41c1-8899-0db2dae128a2 g.chr17:25988693_25988702delCACAGGTGGC ENST00000583179.1 - 0 1982_1991 GATGTAAAAGCACAGGTGGCCACAGGTTAC 0.500 3 6 --- --- --- ---