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 ATAD3C 219293 broad.mit.edu 37 1 1389856 1389856 + Silent SNP T T G rs1781146 TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr1:1389856T>G ENST00000378785.2 + 4 1349 c.354T>G c.(352-354)ctT>ctG p.L118L NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 118 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCACGGTGCTTGAGGCGCTGC 0.667 3 13 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144874026 144874026 + Missense_Mutation SNP G G C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr1:144874026G>C ENST00000369359.4 - 34 5377 c.5339C>G c.(5338-5340)tCc>tGc p.S1780C PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1644 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGATGGATGGAATCTATAAA 0.458 T PDGFRB MPD 6 321 --- --- --- --- SLC38A11 151258 broad.mit.edu 37 2 165765267 165765267 + Silent SNP C C A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr2:165765267C>A ENST00000303735.4 - 9 1074 c.744G>T c.(742-744)gtG>gtT p.V248V SLC38A11_ENST00000409058.1_Silent_p.V301V|SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000409149.3_Silent_p.V270V NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 270 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 CACCAAAAAACACATTGGCAA 0.393 3 49 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179456528 179456528 + Silent SNP A A G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr2:179456528A>G ENST00000589042.1 - 303 60242 c.60018T>C c.(60016-60018)ggT>ggC p.G20006G TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN_ENST00000460472.2_Silent_p.G10941G|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18365 Fibronectin type-III 44. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATTGGAGAACCACCATCAC 0.458 8 35 --- --- --- --- AC010731.4 0 broad.mit.edu 37 2 207509038 207509038 + RNA SNP C C T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr2:207509038C>T ENST00000543490.1 + 0 253 TGGGAATGTGCTGTGTATCTC 0.547 7 24 --- --- --- --- ACAA1 30 broad.mit.edu 37 3 38168013 38168013 + Missense_Mutation SNP A A G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr3:38168013A>G ENST00000333167.8 - 8 977 c.805T>C c.(805-807)Tct>Cct p.S269P ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000444607.2_3'UTR NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 269 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) GCTGTGGTAGAACCATCTTTC 0.587 7 62 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115858527 115858527 + Missense_Mutation SNP G G C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr4:115858527G>C ENST00000264363.2 - 5 2032 c.1354C>G c.(1354-1356)Cca>Gca p.P452A NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 452 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTCAGATGTGGATATTCTTCA 0.468 6 73 --- --- --- --- ZNF131 7690 broad.mit.edu 37 5 43174661 43174661 + Missense_Mutation SNP A A G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr5:43174661A>G ENST00000509634.1 + 7 1652 c.1196A>G c.(1195-1197)aAt>aGt p.N399S ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S P52739 ZN131_HUMAN zinc finger protein 131 433 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 ATGCAAGGAAATGAATTAAGG 0.398 11 72 --- --- --- --- BDP1 55814 broad.mit.edu 37 5 70860624 70860624 + Missense_Mutation SNP C C T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr5:70860624C>T ENST00000358731.4 + 39 8050 c.7787C>T c.(7786-7788)gCc>gTc p.A2596V BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2596 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TATAAAAGTGCCCAAAAGCGG 0.328 6 50 --- --- --- --- TBC1D22B 55633 broad.mit.edu 37 6 37280704 37280704 + Silent SNP G G C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr6:37280704G>C ENST00000373491.3 + 9 1139 c.993G>C c.(991-993)gtG>gtC p.V331V NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 331 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) AAGAGGATGTGGAGAACTTTG 0.438 3 43 --- --- --- --- CSGALNACT1 55790 broad.mit.edu 37 8 19316028 19316028 + Missense_Mutation SNP C C T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr8:19316028C>T ENST00000454498.2 - 5 1773 c.760G>A c.(760-762)Gaa>Aaa p.E254K CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 254 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TTGAGCTTTTCATTTTTCACT 0.448 13 229 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37732517 37732517 + Missense_Mutation SNP G G T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr8:37732517G>T ENST00000330843.4 - 3 1150 c.1138C>A c.(1138-1140)Cag>Aag p.Q380K RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 380 QL -> DV (in Ref. 1; AAM09571). protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCGGAGAGCTGCCTGTCAGAA 0.562 3 44 --- --- --- --- CYP11B2 1585 broad.mit.edu 37 8 143995679 143995679 + Splice_Site SNP C C T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr8:143995679C>T ENST00000323110.2 - 5 957 c.e5+1 NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTGGCCTGACCGTGTCCACG 0.622 Familial Hyperaldosteronism type I 4 46 --- --- --- --- CCDC180 100499483 broad.mit.edu 37 9 100080777 100080777 + Missense_Mutation SNP C C T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr9:100080777C>T ENST00000375202.2 + 24 2476 c.1124C>T c.(1123-1125)cCc>cTc p.P375L CCDC180_ENST00000411667.2_Missense_Mutation_p.P372L|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000529487.1_Missense_Mutation_p.P375L|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.P514L coiled-coil domain containing 180 ATCCATACTCCCCCGGCTGTG 0.572 6 44 --- --- --- --- INVS 27130 broad.mit.edu 37 9 103027138 103027138 + Missense_Mutation SNP G G C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr9:103027138G>C ENST00000262457.2 + 11 1684 c.1499G>C c.(1498-1500)gGa>gCa p.G500A INVS_ENST00000262456.2_Missense_Mutation_p.G500A|INVS_ENST00000541287.1_Missense_Mutation_p.G404A NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 500 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) TGCAACAATGGATACCTTGAT 0.343 4 68 --- --- --- --- KIF5B 3799 broad.mit.edu 37 10 32304509 32304509 + Missense_Mutation SNP A A G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr10:32304509A>G ENST00000302418.4 - 25 3297 c.2840T>C c.(2839-2841)gTt>gCt p.V947A NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 947 Globular. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) GCTGTTCTGAACAAATGCACC 0.448 T """RET, ALK""" NSCLC 4 98 --- --- --- --- ATM 472 broad.mit.edu 37 11 108225561 108225561 + Missense_Mutation SNP T T G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr11:108225561T>G ENST00000278616.4 + 61 9195 c.8810T>G c.(8809-8811)gTg>gGg p.V2937G ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2937 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACCATGGAAGTGATGAGAAAC 0.338 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 13 80 --- --- --- --- AKAP6 9472 broad.mit.edu 37 14 33292152 33292152 + Missense_Mutation SNP C C G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr14:33292152C>G ENST00000280979.4 + 13 5303 c.5133C>G c.(5131-5133)atC>atG p.I1711M AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1711 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGAACAAGATCCCGGAATCGA 0.458 9 89 --- --- --- --- PLA2G4E 123745 broad.mit.edu 37 15 42278134 42278134 + Missense_Mutation SNP G G A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr15:42278134G>A ENST00000399518.3 - 18 2591 c.2105C>T c.(2104-2106)gCg>gTg p.A702V PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 690 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GACAAAGAACGCAGTGTCCAG 0.567 3 15 --- --- --- --- IMP3 55272 broad.mit.edu 37 15 75931970 75931970 + Missense_Mutation SNP G G T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr15:75931970G>T ENST00000314852.2 - 2 1483 c.540C>A c.(538-540)ttC>ttA p.F180L IMP3_ENST00000403490.1_Missense_Mutation_p.F180L Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 180 rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 CTTCCAGATCGAAGTCATCGC 0.532 8 58 --- --- --- --- GAN 8139 broad.mit.edu 37 16 81390408 81390408 + Missense_Mutation SNP A A T TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr16:81390408A>T ENST00000568107.2 + 4 814 c.652A>T c.(652-654)Atg>Ttg p.M218L NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin BACK. cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GAAGGATGTTATGTCAGCTCT 0.408 12 107 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87451328 87451328 + Missense_Mutation SNP C C G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr16:87451328C>G ENST00000268616.4 - 8 927 c.710G>C c.(709-711)gGt>gCt p.G237A NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 237 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGACGGGATACCAGCCACTCC 0.682 4 17 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr17:7578271T>C ENST00000420246.2 - 6 710 c.578A>G c.(577-579)cAt>cGt p.H193R TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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) TCGGATAAGATGCTGAGGAGG 0.562 111 """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) 7 21 --- --- --- --- KIF18B 146909 broad.mit.edu 37 17 43012683 43012683 + Missense_Mutation SNP G G A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr17:43012683G>A ENST00000587309.1 - 3 438 c.415C>T c.(415-417)Cgc>Tgc p.R139C KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GCCTCCAGGCGCCTGTACAGT 0.657 3 25 --- --- --- --- HOXB5 3215 broad.mit.edu 37 17 46670614 46670614 + Missense_Mutation SNP T T G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr17:46670614T>G ENST00000239151.5 - 1 709 c.431A>C c.(430-432)gAa>gCa p.E144A HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 144 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GCTTGCCGCTTCCTCAGGCTC 0.662 4 30 --- --- --- --- CPT1C 126129 broad.mit.edu 37 19 50204808 50204808 + Missense_Mutation SNP G G A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr19:50204808G>A ENST00000392518.4 + 7 982 c.610G>A c.(610-612)Gtc>Atc p.V204I CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 204 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTGGACCGCGGTCCTGGCGCA 0.677 3 41 --- --- --- --- NLRP4 147945 broad.mit.edu 37 19 56372782 56372782 + Missense_Mutation SNP C C A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr19:56372782C>A ENST00000301295.6 + 4 2309 c.1887C>A c.(1885-1887)caC>caA p.H629Q NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 629 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTTGGCATCACATCTGCTCTG 0.562 7 52 --- --- --- --- TTC38 55020 broad.mit.edu 37 22 46685404 46685404 + Silent SNP G G A TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr22:46685404G>A ENST00000381031.3 + 12 1264 c.1188G>A c.(1186-1188)gaG>gaA p.E396E TTC38_ENST00000445282.2_Silent_p.E338E NM_017931.2 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 396 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 GCGTCCTGGAGCTGCTCCTGC 0.711 10 60 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53618049 53618049 + Missense_Mutation SNP T T C TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chrX:53618049T>C ENST00000342160.3 - 33 4463 c.4006A>G c.(4006-4008)Atg>Gtg p.M1336V HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1336 UBA. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGTGCCTCCATTGCATGTTCC 0.468 4 12 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696457 47696462 + In_Frame_Del DEL TGCCCG TGCCCG - TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1 98899bed-24c3-494b-83c6-27e994e986c1 g.chr17:47696457_47696462delTGCCCG ENST00000393331.3 - 7 831_836 c.361_366delCGGGCA c.(361-366)cgggcadel p.RA121del SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 121 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.R121Q(1)|p.A122delA(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAAACCTATATGCCCGTTGACTCTCT 0.427 Prostate(2;0.17) 8 102 --- --- --- ---