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 FBN2 2201 broad.mit.edu 37 5 127640762 127640762 + Missense_Mutation SNP C C A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr5:127640762C>A ENST00000508053.1 - 51 6661 c.5687G>T c.(5686-5688)tGt>tTt p.C1896F FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F P35556 FBN2_HUMAN fibrillin 2 1896 EGF-like 31; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATTTCTAAACATTCATTGCG 0.353000 3 32 0.115264 0.117665 1 1 0 MUC16 94025 broad.mit.edu 37 19 9088746 9088746 + Silent SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr19:9088746T>C ENST00000397910.4 - 1 3272 c.3069A>G c.(3067-3069)acA>acG p.T1023T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1023 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCTCTGTTGTGAGGATGG 0.468000 81 122 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138676392 138676392 + Silent SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr9:138676392G>A ENST00000298480.5 + 26 3029 c.2955G>A c.(2953-2955)aaG>aaA p.K985K KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000490355.2_Silent_p.K964K|KCNT1_ENST00000491806.2_Silent_p.K952K B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 985 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTTCGTGAAGGACTACATGA 0.697000 10 6 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42710402 42710402 + Silent SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr21:42710402C>T ENST00000398652.3 + 4 444 c.378C>T c.(376-378)taC>taT p.Y126Y FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000479810.2_3'UTR P58499 FAM3B_HUMAN family with sequence similarity 3, member B 87 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GAAGCAAGTACGCCAAAATCT 0.502000 38 56 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180661549 180661549 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr5:180661549G>A ENST00000315073.5 + 6 2377 c.1667G>A c.(1666-1668)gGc>gAc p.G556D TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 556 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCACCAACGGCAAACGCTAT 0.657000 4 151 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34139764 34139764 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr11:34139764G>A ENST00000257829.3 + 7 801 c.595G>A c.(595-597)Gtc>Atc p.V199I NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 199 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GAAGTGTCTCGTCATTGATGA 0.532000 43 49 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73520287 73520287 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr7:73520287A>G ENST00000418310.1 + 6 883 c.781A>G c.(781-783)Atc>Gtc p.I261V LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V P53667 LIMK1_HUMAN LIM domain kinase 1 231 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) TGGCACGCCCATCCGAAATGT 0.607000 42 51 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727267 69727267 + Missense_Mutation SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr16:69727267C>T ENST00000349945.1 + 14 4809 c.3257C>T c.(3256-3258)gCa>gTa p.A1086V NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000354436.2_Missense_Mutation_p.A1162V|NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1162 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GCATTTTTTGCAGCACCGAAC 0.428000 4 171 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65909179 65909179 + Missense_Mutation SNP G G T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr17:65909179G>T ENST00000321892.4 + 13 5618 c.5557G>T c.(5557-5559)Gac>Tac p.D1853Y BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1853 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCCTAATGATGACTTAAAAAA 0.398000 4 121 1 1 1 1 0 PDGFRL 5157 broad.mit.edu 37 8 17447012 17447012 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr8:17447012A>G ENST00000541323.1 + 3 536 c.91A>G c.(91-93)Aaa>Gaa p.K31E PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E|PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 31 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CAAGCGTCCAAAAGAACCAGG 0.428000 101 138 0 0 1 0 0 FAM199X 139231 broad.mit.edu 37 X 103432819 103432819 + Missense_Mutation SNP C C A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chrX:103432819C>A ENST00000493442.1 + 5 994 c.828C>A c.(826-828)agC>agA p.S276R FAM199X_ENST00000299906.5_3'UTR NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 276 Ser-rich. breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 GTGGAGTGAGCGGTGCCAGTG 0.552000 4 98 0.00909568 0.00968888 1 1 0 OR5M8 219484 broad.mit.edu 37 11 56258374 56258374 + Missense_Mutation SNP T T C rs142719978 TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr11:56258374T>C ENST00000327216.2 - 1 497 c.473A>G c.(472-474)gAg>gGg p.E158G NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CCACATGGTCTCCATCAGGCC 0.512000 48 75 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752352 36752352 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr1:36752352G>A ENST00000354618.5 + 4 745 c.521G>A c.(520-522)cGc>cAc p.R174H THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 174 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCTTCTAAGCGCAAGTCTGCA 0.517000 T USP6 aneurysmal bone cysts 5 394 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29121270 29121270 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr18:29121270A>G ENST00000261590.8 + 13 2203 c.1994A>G c.(1993-1995)gAa>gGa p.E665G NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 665 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) GCACCACCTGAAGACAAGGTC 0.473000 9 39 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1413343 1413343 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chrX:1413343G>A ENST00000381524.3 + 8 955 c.769G>A c.(769-771)Gtc>Atc p.V257I CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 257 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CCAGCTGGACGTCCACAGAAA 0.632000 43 71 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618795 52618795 + Missense_Mutation SNP C C G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr19:52618795C>G ENST00000600228.1 - 4 1883 c.1622G>C c.(1621-1623)aGa>aCa p.R541T ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AGTATGAATTCTCCGATGCCT 0.443000 35 61 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 21 53 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692401 20692401 + Missense_Mutation SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr14:20692401T>C ENST00000315519.2 + 1 611 c.533T>C c.(532-534)aTt>aCt p.I178T NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CCAGTCCCTATTGTTCTTATC 0.502000 21 19 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9588459 9588459 + Silent SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr8:9588459C>T ENST00000310430.6 + 14 2087 c.2061C>T c.(2059-2061)ccC>ccT p.P687P TNKS_ENST00000518281.1_Silent_p.P450P NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 687 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ATTCCACGCCCTTACACTTCG 0.498000 31 53 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr17:7578235T>G ENST00000420246.2 - 6 746 c.614A>C c.(613-615)tAt>tCt p.Y205S TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 205 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 57 9 0 0 1 0 0 LILRB4 0 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647000 5 131 0 0 1 0 0 TRBV5-4 0 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 3 30 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3640627 3640627 + Silent SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr16:3640627G>A ENST00000294008.3 - 12 3652 c.3012C>T c.(3010-3012)ccC>ccT p.P1004P NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1004 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TTTGTTCCTCGGGCTCACTTG 0.577000 Direct reversal of damage 13 100 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206326 121206326 + Missense_Mutation SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr3:121206326C>T ENST00000264233.5 - 16 5580 c.5452G>A c.(5452-5454)Gcc>Acc p.A1818T NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1818 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTGCTTGAGGCTGGAGTTAAC 0.398000 DNA polymerases (catalytic subunits) 5 114 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 44 0 0 1 0 0 LINC00477 0 broad.mit.edu 37 12 24736734 24736734 + RNA SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr12:24736734G>A ENST00000483544.1 - 0 368 NR_029451.2 AGGCGAAGAAGAAAAAAAAAT 0.567000 7 84 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154002608 154002608 + Missense_Mutation SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr7:154002608C>T ENST00000332007.3 + 1 414 c.29C>T c.(28-30)tCg>tTg p.S10L DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCAAGCGCTTCGGGGAAATCC 0.607000 3 16 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195398250 195398250 + RNA SNP C C A rs80193871 by1000genomes TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr3:195398250C>A ENST00000445430.1 + 0 1088 GCACCGCTCGCCCTCACCTTC 0.572000 3 29 0.00198382 0.00220925 1 1 0 KRT82 3888 broad.mit.edu 37 12 52795111 52795111 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr12:52795111G>A ENST00000257974.2 - 3 720 c.643C>T c.(643-645)Cgt>Tgt p.R215C RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 215 Coil 1B.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) ACACAGGGACGCAGGGAGAGC 0.532000 4 82 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135382574 135382574 + Missense_Mutation SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr5:135382574T>C ENST00000442011.2 + 5 655 c.494T>C c.(493-495)aTt>aCt p.I165T TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 165 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AATGTCAACATTGAGCTGCTC 0.537000 3 34 0 0 1 0 0 ACER2 340485 broad.mit.edu 37 9 19435024 19435024 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr9:19435024A>G ENST00000340967.2 + 4 471 c.445A>G c.(445-447)Atc>Gtc p.I149V ACER2_ENST00000380376.1_Missense_Mutation_p.I100V NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 149 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 CATCAACAACATCTCTCTGAT 0.537000 16 107 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699246 17699246 + Missense_Mutation SNP G G A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr17:17699246G>A ENST00000353383.1 + 3 3453 c.2984G>A c.(2983-2985)gGc>gAc p.G995D RAI1_ENST00000261641.6_Missense_Mutation_p.G995D NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 995 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GTGCCACGGGGCAAAAGCTTA 0.662000 3 37 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156932027 156932027 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr7:156932027A>G ENST00000348165.5 + 1 421 c.61A>G c.(61-63)Agg>Ggg p.R21G UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 21 Cis-determinant of acceptor ubiquitin- binding. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CGGCGCGAGCAGGAAGGTGAG 0.751000 4 45 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40719044 40719044 + Missense_Mutation SNP T T C TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr19:40719044T>C ENST00000253055.3 + 8 2074 c.1786T>C c.(1786-1788)Tcc>Ccc p.S596P NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 596 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CCTGGGCAAGTCCCCCAAACA 0.612000 7 9 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 86001154 86001154 + Silent SNP C C T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr10:86001154C>T ENST00000372105.3 - 1 63 c.42G>A c.(40-42)gcG>gcA p.A14A NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 14 integral to endoplasmic reticulum membrane p.A14A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GGGGGGGCCACGCAAGGGCCA 0.672000 16 22 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81641895 81641895 + Missense_Mutation SNP A A G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr15:81641895A>G ENST00000558726.1 - 11 1235 c.1100T>C c.(1099-1101)gTc>gCc p.V367A RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 366 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GACGAGGGAGACCACCACACT 0.552000 8 14 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739418 41739418 + Splice_Site SNP G G T TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr22:41739418G>T ENST00000352645.4 + 13 1554 c.e13-1 ZC3H7B_ENST00000351589.4_Splice_Site NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCTGCCCATAGGCCCCCGGGC 0.617000 4 136 0.00909568 0.00968888 1 1 0 HTRA2 27429 broad.mit.edu 37 2 74757185 74757186 + Frame_Shift_Ins INS - - G TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr2:74757185_74757186insG ENST00000258080.3 + 1 682_683 c.52_53insG c.(52-54)ggcfs p.G18fs HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 18 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TCGGGCATGGCGGGCTTTGGGG 0.718 8 144 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 223 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 4 9 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 4 9 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767686 88767686 + RNA DEL T T - rs71019446 TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr10:88767686delT ENST00000444431.1 + 0 2711 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AAAATGTATCttttttttttt 0.413 3 4 --- --- --- --- NIPA1 123606 broad.mit.edu 37 15 23086365 23086367 + In_Frame_Del DEL GCC GCC - TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chr15:23086365_23086367delGCC ENST00000337435.4 - 1 69_71 c.45_47delGGC c.(43-48)gcc>gc p.AA15del NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron NM_001142275.1|NM_144599.4 NP_001135747.1|NP_653200.2 Q7RTP0 NIPA1_HUMAN non imprinted in Prader-Willi/Angelman syndrome 1 15 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) CCCCTCCCCGgccgccgccgccg 0.818 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76814303 76814306 + Frame_Shift_Del DEL ATAA ATAA - TCGA-HT-A5RB-01A-11D-A289-08 TCGA-HT-A5RB-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx badfd81e-213a-4a00-b2a6-d3fc0ec351cf abe3f148-9638-4601-9848-f309142fed65 g.chrX:76814303_76814306delATAA ENST00000373344.5 - 29 6552_6555 c.6338_6341delTTAT c.(6337-6342)tcfs p.FI2113fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2113 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.F2113fs*9(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGTAGAAATGATAAATAATCGTCC 0.289 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 29 3 --- --- --- ---