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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NCOA2 10499 broad.mit.edu 37 8 71126273 71126273 + Missense_Mutation SNP C T T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr8:71126273C>T uc003xyn.1 - 3 286 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 42 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TATTTATTTTCCTGTTCACGA 0.284000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 92 8 0 0 2.17888e-05 0 0 BRAF 673 broad.mit.edu 37 7 140481402 140481402 + Missense_Mutation SNP C G G rs121913358 TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr7:140481402C>G uc003vwc.4 - 10 1467 c.1406G>C c.(1405-1407)gGa>gCa p.G469A NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 469 Protein kinase. G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). 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.G469A(49)|p.G469V(30)|p.G469E(12)|p.G469S(12)|p.G469R(7)|p.F468S(1)|p.F468C(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) GTAGACTGTTCCAAATGATCC 0.373000 G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG) 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 88 10 0 0 2.17888e-05 0 0 CD1D 912 broad.mit.edu 37 1 158151871 158151871 + Silent SNP C T T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr1:158151871C>T uc001frr.3 + 3 877 c.378C>T c.(376-378)aaC>aaT p.N126N CD1D_uc009wsr.1_Silent_p.N126N|CD1D_uc009wss.3_Silent_p.N126N|CD1D_uc009wst.1_Silent_p.N22N NM_001766 NP_001757 P15813 CD1D_HUMAN Homo sapiens CD1d molecule (CD1D), mRNA. 126 T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) ACCCTGGGAACGCCTCAAATA 0.493000 147 10 0 0 3.86212e-05 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C G G TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr10:37430948C>G uc021ppc.1 + 6 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_uc001iza.1_Missense_Mutation_p.P319A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 65 5 0 0 1.23904e-05 0 0 ZC3H15 55854 broad.mit.edu 37 2 187366076 187366077 + Missense_Mutation DNP CC AA AA TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr2:187366076_187366077CC>AA uc002upo.3 + 3 591_592 c.366_367CC>AA c.(364-369)tcccat>tcAAat p.H123N NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA. 123 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) GTAAGTTCTCCCATGACTTGAC 0.366000 136 10 0 0 6.4e-05 0 0 ZNF304 57343 broad.mit.edu 37 19 57869182 57869182 + Missense_Mutation SNP G T T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr19:57869182G>T uc010etw.3 + 3 2474 c.2086G>T c.(2086-2088)Ggt>Tgt p.G696C ZNF304_uc010ygw.2_Missense_Mutation_p.G649C|ZNF304_uc010etx.3_Missense_Mutation_p.G607C NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 649 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CAACAGTTTTGGTGGCCCTTT 0.438000 96 8 2.17888e-05 0.00381992 2.17888e-05 1 0 SYBU 55638 broad.mit.edu 37 8 110590244 110590244 + Missense_Mutation SNP C G G TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr8:110590244C>G uc010mcp.3 - 6 1099 c.737G>C c.(736-738)cGt>cCt p.R246P SYBU_uc003yni.4_Missense_Mutation_p.R243P|SYBU_uc003ynk.4_Missense_Mutation_p.R127P|SYBU_uc003ynj.4_Missense_Mutation_p.R246P|SYBU_uc010mco.3_Missense_Mutation_p.R245P|SYBU_uc003ynl.4_Missense_Mutation_p.R245P|SYBU_uc010mcq.3_Missense_Mutation_p.R246P|SYBU_uc003yno.4_Missense_Mutation_p.R127P|SYBU_uc010mcr.3_Missense_Mutation_p.R246P|SYBU_uc003ynm.4_Missense_Mutation_p.R245P|SYBU_uc003ynn.4_Missense_Mutation_p.R245P|SYBU_uc010mcs.3_Missense_Mutation_p.R127P|SYBU_uc010mct.3_Missense_Mutation_p.R246P|SYBU_uc010mcu.3_Missense_Mutation_p.R245P|SYBU_uc003ynp.4_Missense_Mutation_p.R178P|SYBU_uc010mcv.3_Missense_Mutation_p.R246P|SYBU_uc003ynh.4_Missense_Mutation_p.R40P|SYBU_uc011lhw.2_Missense_Mutation_p.R116P NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 246 Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CCTTCCAGAACGCCTGAAACA 0.428000 107 6 0 0 1.12685e-05 0 0 TG 7038 broad.mit.edu 37 8 133899181 133899181 + Missense_Mutation SNP C T T TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr8:133899181C>T uc003ytw.3 + 8 1605 c.1564C>T c.(1564-1566)Ctc>Ttc p.L522F NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 522 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGCCAAGCCACTCTCTGTGGG 0.453000 60 5 0 0 1.23904e-05 0 0 MIR1246 100302142 broad.mit.edu 37 2 177465771 177465771 + RNA SNP C A A TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr2:177465771C>A uc021vss.1 - 0 c.10G>T Homo sapiens microRNA 1246 (MIR1246), microRNA. aAAATCCATTCAAGGATACAA 0.403000 75 8 6.5536e-12 1.28412e-09 5.18039e-06 1 0 ZNF415 55786 broad.mit.edu 37 19 53612607 53612607 + Missense_Mutation SNP T C C TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr19:53612607T>C uc002qax.3 - 6 1184 c.835A>G c.(835-837)Atg>Gtg p.M279V ZNF415_uc010yds.2_Missense_Mutation_p.M231V|ZNF415_uc010ydt.2_Missense_Mutation_p.M231V|ZNF415_uc002qau.3_Missense_Mutation_p.M218V|ZNF415_uc002qav.3_Missense_Mutation_p.M243V|ZNF415_uc002qaw.3_Missense_Mutation_p.M231V|ZNF415_uc002qay.3_Missense_Mutation_p.M218V|ZNF415_uc002qaz.3_Missense_Mutation_p.M279V|ZNF415_uc002qba.3_Missense_Mutation_p.M1V Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CGTACAGTCATGTGTGAGCCA 0.403000 92 7 0 0 2.17888e-05 0 0 CDK19 23097 broad.mit.edu 37 6 110943346 110943346 + Missense_Mutation SNP G A A TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr6:110943346G>A uc003puh.1 - 10 1128 c.1055C>T c.(1054-1056)cCa>cTa p.P352L CDK19_uc003pui.1_Missense_Mutation_p.P292L|CDK19_uc011eax.1_Missense_Mutation_p.P228L NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA. 352 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 TTTGGGGTATGGAATCTGGCA 0.343000 141 7 0 0 1.12685e-05 0 0 USH2A 7399 broad.mit.edu 37 1 215955459 215955459 + Missense_Mutation SNP C A A TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr1:215955459C>A uc001hku.1 - 53 11052 c.10665G>T c.(10663-10665)gaG>gaT p.E3555D NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3555 Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTGAATTCCCTCTTTATCAG 0.413000 HNSCC(13;0.011) 49 9 1.12685e-05 0.0020853 1.12685e-05 1 0 BEGAIN 57596 broad.mit.edu 37 14 101004687 101004687 + Silent SNP G C C TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr14:101004687G>C uc010txa.2 - 5 1547 c.1401C>G c.(1399-1401)ctC>ctG p.L467L BEGAIN_uc001yhp.3_Silent_p.L403L|BEGAIN_uc001yhq.3_Silent_p.L467L NM_001159531 NP_065887 Q9BUH8 BEGIN_HUMAN Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA. 467 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) AGCTGGCGTAGAGCGGGCTGG 0.741000 15 3 0 0 2.56e-06 0 0 TOR3A 64222 broad.mit.edu 37 1 179064224 179064224 + Missense_Mutation SNP G C C rs143589216 by1000genomes TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr1:179064224G>C uc001gmd.3 + 5 1217 c.1065G>C c.(1063-1065)gaG>gaC p.E355D TOR3A_uc010pnd.2_Missense_Mutation_p.E139D NM_022371 NP_071766 Q9H497 TOR3A_HUMAN Homo sapiens torsin family 3, member A (TOR3A), mRNA. 355 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 TGAGCCAGGAGCTCCTGTATA 0.498000 79 5 0 0 1.23904e-05 0 0 COL21A1 81578 broad.mit.edu 37 6 56044546 56044546 + Missense_Mutation SNP G A A TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr6:56044546G>A uc003pcs.3 - 2 702 c.470C>T c.(469-471)gCa>gTa p.A157V COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.A157V|COL21A1_uc003pcu.1_Missense_Mutation_p.A157V NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 157 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ATCTCTTGCTGCTTGAGCTGC 0.423000 39 5 0 0 3.59834e-05 0 0 SMG1 23049 broad.mit.edu 37 16 18887699 18887699 + Missense_Mutation SNP T C C TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr16:18887699T>C uc002dfm.3 - 12 2000 c.1637A>G c.(1636-1638)cAt>cGt p.H546R SMG1_uc010bwb.3_Missense_Mutation_p.H406R NM_015092 NP_055907 Q96Q15 SMG1_HUMAN Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA. 546 Interaction with SMG8 and SMG9. H -> R. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.H542R(2)|p.H546R(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATAAACAGCATGGGCTACAGC 0.333000 18 4 0 0 2.56e-06 0 0 EVC2 132884 broad.mit.edu 37 4 5620263 5620263 + Missense_Mutation SNP G A A rs140951974 byFrequency TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr4:5620263G>A uc003gij.3 - 14 2702 c.2648C>T c.(2647-2649)gCg>gTg p.A883V EVC2_uc003gik.3_Missense_Mutation_p.A803V|EVC2_uc011bwb.2_Missense_Mutation_p.A323V NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 883 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TTCTCGCCACGCAGTCTGAAA 0.612000 35 5 0 0 1.23904e-05 0 0 C10orf81 79949 broad.mit.edu 37 10 115531817 115531817 + Missense_Mutation SNP A C C TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr10:115531817A>C uc001lat.2 + 6 1185 c.623A>C c.(622-624)cAt>cCt p.H208P C10orf81_uc009xyc.2_Missense_Mutation_p.H126P|C10orf81_uc001lar.2_Missense_Mutation_p.H214P|C10orf81_uc001las.2_Missense_Mutation_p.H126P|C10orf81_uc001lau.2_Missense_Mutation_p.H28P NM_182601 NP_872407 Q5SXH7 CJ081_HUMAN Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA. 208 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2) 15 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) GAAGAGAATCATTATCTTACT 0.368000 76 7 0 0 5.18039e-06 0 0 MOBP 4336 broad.mit.edu 37 3 39543982 39543983 + Frame_Shift_Ins INS - A A TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr3:39543982_39543983insA uc003cjv.3 + 3 485_486 c.235_236insA c.(235-237)ggafs p.G79fs MOBP_uc003cju.3_Intron|MOBP_uc003cjw.3_Intron|MOBP_uc010hht.3_Intron|MOBP_uc003cjx.3_Intron|MOBP_uc003cjy.3_Intron NM_182935 NP_891980 Q13875 MOBP_HUMAN Homo sapiens myelin-associated oligodendrocyte basic protein (MOBP), mRNA. 68 Pro-rich. nervous system development nucleolus|perinuclear region of cytoplasm|soluble fraction central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998) AAGCAGCAGAGGAGAGCCCTGG 0.658 --- 4 --- --- 2 --- ATR 545 broad.mit.edu 37 3 142274740 142274740 + Frame_Shift_Del DEL T - - TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr3:142274740delT uc003eux.4 - 9 2442 c.2320delA c.(2320-2322)atafs p.I774fs NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 774 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.I774fs*5(2) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGACTAGGTATTTTTTTTTTC 0.328 Other conserved DNA damage response genes --- 139 --- --- 7 --- AMBN 258 broad.mit.edu 37 4 71467206 71467206 + Frame_Shift_Del DEL A - - TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr4:71467206delA uc003hfl.3 + 5 467 c.366delA c.(364-366)ggafs p.G122fs NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 122 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) AACAGCCAGGACTGAAACCTT 0.507 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 122 --- --- 7 --- abParts 0 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - AGTAATACACGGCA AGTAATACACGGCA TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr14:106774086_106774087insAGTAATACACGGCA uc021ser.1 - 684 c.18723_splice c.e684+1 Parts of antibodies, mostly variable regions. GCCTCTTGCACGTGTCCTCAGC 0.550 --- 5 --- --- 3 --- MRI1 84245 broad.mit.edu 37 19 13879419 13879419 + Frame_Shift_Del DEL T - - TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr19:13879419delT uc002mxe.3 + 3 658 c.592delT c.(592-594)ttcfs p.F198fs MRI1_uc002mxf.3_Intron NM_001031727 NP_001026897 Q9BV20 MTNA_HUMAN Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA. 198 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 GGAGCATGCCTTCTGCACAGA 0.657 --- 4 --- --- 2 --- SNX21 90203 broad.mit.edu 37 20 44462578 44462578 + Splice_Site DEL A - - TCGA-DA-A1IB-06A-11D-A196-08 TCGA-DA-A1IB-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f460014-a80c-4d86-aa5a-7baddf39b594 30919a1a-df9f-4604-835e-f66ac7bcacdf g.chr20:44462578delA uc002xpv.1 + 1 110 c.21_splice c.e1+1 p.E7_splice SNX21_uc002xpt.1_Splice_Site_p.E7_splice|SNX21_uc002xps.1_Splice_Site_p.E7_splice|SNX21_uc002xpu.1_Splice_Site_p.E7_splice|SNX21_uc002xpw.1_Splice_Site|SNX21_uc010zxd.1_5'Flank|SNX21_uc002xpy.1_5'Flank NM_033421 NP_219489 Q969T3 SNX21_HUMAN Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA. 7 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) GGGACGCAGGAGGTAGAGGCG 0.726 --- 4 --- --- 2 ---