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 JMJD1C 221037 broad.mit.edu 37 10 64967854 64967854 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:64967854G>C ENST00000399262.2 - 10 3793 c.3575C>G c.(3574-3576)tCt>tGt p.S1192C JMJD1C_ENST00000402544.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1010C NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1192 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATTTGTAGAAGAAACTGTCAA 0.428000 31 48 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 4 106 0.014758 0.0151269 1 1 0 RYR1 6261 broad.mit.edu 37 19 38976628 38976628 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:38976628C>T ENST00000355481.4 + 34 5464 c.5333C>T c.(5332-5334)tCg>tTg p.S1778L RYR1_ENST00000360985.3_Missense_Mutation_p.S1778L|RYR1_ENST00000359596.3_Missense_Mutation_p.S1778L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1778 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCATTTCTCGCCCCCCTGT 0.682000 11 14 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71715791 71715791 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:71715791G>C ENST00000393524.2 - 5 1486 c.753C>G c.(751-753)atC>atG p.I251M PHLPP2_ENST00000568954.1_Missense_Mutation_p.I251M|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I286M Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 251 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CCACGGTACTGATTCGCTGGG 0.458000 18 35 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70118297 70118297 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:70118297C>T ENST00000253925.7 + 2 234 c.19C>T c.(19-21)Ccg>Tcg p.P7S PPFIA1_ENST00000389547.3_Missense_Mutation_p.P7S NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 7 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGAGGTGATGCCGACCATCAG 0.493000 4 104 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155291907 155291907 + Missense_Mutation SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:155291907G>A ENST00000368352.5 + 2 494 c.343G>A c.(343-345)Gat>Aat p.D115N RUSC1_ENST00000368354.3_Missense_Mutation_p.D115N|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 115 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TCTTAGCCCCGATGAGTCCCC 0.632000 3 48 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49166486 49166486 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:49166486G>A ENST00000418109.1 - 14 1862 c.1698C>T c.(1696-1698)caC>caT p.H566H LAMB2_ENST00000305544.4_Silent_p.H566H NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 566 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCCAAATTAGGTGGTCCAGGA 0.632000 17 45 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71866097 71866097 + Silent SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr9:71866097G>C ENST00000377245.4 + 21 3346 c.3138G>C c.(3136-3138)ggG>ggC p.G1046G TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Silent_p.G1077G|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Silent_p.G1013G NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 1046 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CTACCTTTGGGCGGTCTATAC 0.517000 16 30 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28728466 28728466 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr18:28728466C>T ENST00000257197.3 - 6 1028 c.767G>A c.(766-768)cGa>cAa p.R256Q DSC1_ENST00000257198.5_Missense_Mutation_p.R256Q|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 256 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTTACCGGATCGGCAATTTTC 0.323000 4 83 0 0 1 0 0 C11orf84 144097 broad.mit.edu 37 11 63586114 63586114 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:63586114C>T ENST00000294244.4 + 4 1022 c.723C>T c.(721-723)gaC>gaT p.D241D NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 241 Pro-rich. endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AAAACCTGGACCCTGACCCAG 0.607000 20 23 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52972257 52972257 + Missense_Mutation SNP A A G TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:52972257A>G ENST00000349258.4 - 3 675 c.131T>C c.(130-132)gTg>gCg p.V44A THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.V44A NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 44 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTGGAAATCCACATACACTGT 0.443000 38 56 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 27 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385512 118385512 + RNA SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:118385512G>A ENST00000537242.1 + 0 286 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) CAACTGGACCGCAAGACACGC 0.498000 19 15 0 0 1 0 0 RNF166 115992 broad.mit.edu 37 16 88767774 88767774 + Missense_Mutation SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:88767774G>A ENST00000312838.4 - 2 303 c.208C>T c.(208-210)Cca>Tca p.P70S RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000567844.1_Intron|RNF166_ENST00000541206.2_5'UTR NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 70 intracellular zinc ion binding endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) CGGCAGAGTGGGCACAGCGGG 0.672000 11 23 0 0 1 0 0 C19orf73 55150 broad.mit.edu 37 19 49622247 49622247 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:49622247G>A ENST00000408991.2 - 1 150 c.33C>T c.(31-33)ggC>ggT p.G11G NM_018111.2 NP_060581.2 Q9NVV2 CS073_HUMAN chromosome 19 open reading frame 73 11 large_intestine(1)|lung(2) 3 TCCGGAAGCAGCCCCCGCCTT 0.697000 24 34 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24843281 24843281 + Missense_Mutation SNP G G T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr6:24843281G>T ENST00000259698.4 - 14 1904 c.1729C>A c.(1729-1731)Cca>Aca p.P577T FAM65B_ENST00000538035.1_Missense_Mutation_p.P556T|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.P527T|FAM65B_ENST00000540914.1_Missense_Mutation_p.P527T|FAM65B_ENST00000510784.2_Missense_Mutation_p.P561T NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 577 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GTGGCCATTGGCACCTCTGCA 0.517000 4 167 0.014758 0.0151269 1 1 0 KIAA2018 205717 broad.mit.edu 37 3 113376163 113376163 + Missense_Mutation SNP T T C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:113376163T>C ENST00000316407.4 - 7 4776 c.4366A>G c.(4366-4368)Aac>Gac p.N1456D KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1456D NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1456 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAGAGATGGTTACTATGAAGG 0.507000 11 8 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114149995 114149995 + Missense_Mutation SNP C C G TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:114149995C>G ENST00000434316.2 + 2 458 c.99C>G c.(97-99)atC>atG p.I33M TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.I33M NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 33 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) AGCGTGTGATCAAACTGCACC 0.632000 4 14 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50359768 50359768 + Missense_Mutation SNP T T C rs4027458 TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:50359768T>C ENST00000394688.3 - 11 1381 c.1222A>G c.(1222-1224)Agt>Ggt p.S408G BRD7_ENST00000394689.2_Missense_Mutation_p.S408G Q9NPI1 BRD7_HUMAN bromodomain containing 7 408 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) GCATAAGAACTGTAGGGCCCA 0.333000 19 27 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455344 84455344 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:84455344C>T ENST00000377084.2 - 1 1184 c.299G>A c.(298-300)gGg>gAg p.G100E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 100 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGAAAAGCCCCCGGAACGAT 0.463000 36 56 0 0 1 0 0 HEMK1 51409 broad.mit.edu 37 3 50617553 50617553 + Silent SNP C C A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:50617553C>A ENST00000232854.4 + 10 1425 c.873C>A c.(871-873)atC>atA p.I291I HEMK1_ENST00000434410.1_Silent_p.I291I|HEMK1_ENST00000455834.1_Silent_p.I291I NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 291 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GTAGTAGTATCTTCTTAGAAG 0.597000 3 40 0.115264 0.115264 1 1 0 CORO7 79585 broad.mit.edu 37 16 4408410 4408410 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:4408410C>T ENST00000251166.4 - 24 2560 c.2415G>A c.(2413-2415)caG>caA p.Q805Q CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.Q787Q NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 CCAGGGAGGACTGACGCAGCC 0.697000 12 14 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046874 73046874 + Missense_Mutation SNP T T A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:73046874T>A ENST00000261180.4 + 17 2883 c.2787T>A c.(2785-2787)aaT>aaA p.N929K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 929 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TAGCTCGAAATCCACATGGTC 0.353000 20 30 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186281353 186281353 + Silent SNP G G A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:186281353G>A ENST00000445192.2 + 11 3885 c.3840G>A c.(3838-3840)aaG>aaA p.K1280K PRG4_ENST00000367483.4_Silent_p.K1239K|PRG4_ENST00000367484.3_Silent_p.K809K|PRG4_ENST00000367485.4_Silent_p.K1187K|PRG4_ENST00000367486.3_Silent_p.K1237K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1280 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGTACAGAAGTGCCCTGGAA 0.398000 34 46 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160241839 160241839 + Silent SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:160241839C>T ENST00000392783.2 - 23 4008 c.3513G>A c.(3511-3513)gtG>gtA p.V1171V BAZ2B_ENST00000355831.2_Silent_p.V1137V|BAZ2B_ENST00000392782.1_Silent_p.V1135V|BAZ2B_ENST00000343439.5_Silent_p.V1071V NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGTCTCGATTCACACCAACAT 0.368000 32 22 0 0 1 0 0 TGDS 23483 broad.mit.edu 37 13 95235377 95235377 + Missense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:95235377C>T ENST00000261296.5 - 5 547 c.427G>A c.(427-429)Gat>Aat p.D143N TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 143 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TATACTTCATCTGTGCTGACA 0.373000 31 39 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96232453 96232453 + Silent SNP T T C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr5:96232453T>C ENST00000437043.3 + 9 2100 c.1389T>C c.(1387-1389)aaT>aaC p.N463N ERAP2_ENST00000379904.4_Silent_p.N418N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 463 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GTATTTTGAATATGCTCAAGG 0.303000 41 72 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33020059 33020059 + Missense_Mutation SNP G G C TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:33020059G>C ENST00000242209.4 + 5 956 c.787G>C c.(787-789)Gag>Cag p.E263Q FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 263 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CATTTCCATTGAGAACAAGGT 0.468000 44 70 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 19 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 52 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120302591 120302591 + Missense_Mutation SNP C C A TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:120302591C>A ENST00000369406.3 - 3 630 c.581G>T c.(580-582)tGt>tTt p.C194F HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 194 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AATGTCTCCACAGACCACCAT 0.522000 11 4 1.33987e-11 1.52596e-11 1 1 0 UGT2B10 7365 broad.mit.edu 37 4 69683800 69683800 + Nonsense_Mutation SNP C C T TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:69683800C>T ENST00000265403.7 + 2 799 c.772C>T c.(772-774)Cga>Tga p.R258* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R174* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 258 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 ATGGCTTATGCGAAACTCCTG 0.383000 39 96 0 0 1 0 0 TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 3 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 3 6 --- --- --- --- CABP7 164633 broad.mit.edu 37 22 30116468 30116468 + Frame_Shift_Del DEL C C - TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr22:30116468delC ENST00000216144.3 + 1 396 c.55delC c.(55-57)ccfs p.P19fs NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 19 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) CTACACCGTGCCCAACCTGCT 0.716 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937573 76937573 + Frame_Shift_Del DEL C C - TCGA-SR-A6MX-05A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx e49fe468-5374-441d-a537-5cdb85c4818e 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:76937573delC ENST00000373344.5 - 9 3389 c.3175delG c.(3175-3177)aafs p.E1059fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.E1021fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1059 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.?(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) TCAGATAATTCATCCTTCTTT 0.323 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 101 38 --- --- --- ---