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 PRKD3 23683 broad.mit.edu 37 2 37505102 37505102 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:37505102C>T ENST00000379066.1 - 9 1965 c.1203G>A c.(1201-1203)atG>atA p.M401I PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I O94806 KPCD3_HUMAN protein kinase D3 401 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GTACAACCCTCATTAGCGGAA 0.363000 15 99 0 0 0.00244969 0 0 ZNF383 163087 broad.mit.edu 37 19 37733547 37733547 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:37733547C>G ENST00000589413.1 + 8 992 c.409C>G c.(409-411)Cat>Gat p.H137D ZNF383_ENST00000352998.3_Missense_Mutation_p.H137D|ZNF383_ENST00000590503.1_Missense_Mutation_p.H137D Q8NA42 ZN383_HUMAN zinc finger protein 383 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCAAATGGGCATTTTAGTCA 0.373000 49 109 0 0 0.000781405 0 0 CASZ1 54897 broad.mit.edu 37 1 10714479 10714479 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:10714479C>T ENST00000377022.3 - 10 2152 c.1835G>A c.(1834-1836)tGc>tAc p.C612Y CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGCTTACCTGCAGTGGAAGTG 0.652000 24 51 0 0 0.00229938 0 0 KRTAP5-AS1 338651 broad.mit.edu 37 11 1619556 1619556 + RNA SNP T T C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:1619556T>C ENST00000424148.1 + 0 1407 NR_021489.1 TCCCTGAGCCTGGGCTCTTTA 0.522000 4 84 0 0 0.000978159 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417850 25417850 + RNA SNP T T A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr15:25417850T>A ENST00000549301.1 + 0 503 SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA CTCAATAGGATTATGCTGAGG 0.517000 81 154 0 0 0.000781405 0 0 BLNK 29760 broad.mit.edu 37 10 97987176 97987176 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:97987176G>A ENST00000224337.5 - 5 492 c.351C>T c.(349-351)ggC>ggT p.G117G BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 117 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTATATACTCGCCTCTGGCGA 0.652000 35 61 0 0 0.00058488 0 0 NWD1 284434 broad.mit.edu 37 19 16902349 16902349 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:16902349C>G ENST00000524140.2 + 14 3547 c.3129C>G c.(3127-3129)atC>atG p.I1043M NWD1_ENST00000552788.1_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000339803.6_Missense_Mutation_p.I908M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1043 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTCCAGCATCAAAGAAGAAA 0.517000 34 69 0 0 0.0024448 0 0 ABO 28 broad.mit.edu 37 9 136132874 136132874 + RNA SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr9:136132874G>A ENST00000453660.2 - 0 306 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GATGTTGAATGTGCCCTCCCA 0.557000 33 38 0 0 0.00209593 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728546 20728546 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:20728546G>C ENST00000427401.4 - 4 557 c.463C>G c.(463-465)Cat>Gat p.H155D NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 155 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GAAAATTTATGAATGACTTTC 0.308000 17 29 0 0 0.000422831 0 0 PKM 5315 broad.mit.edu 37 15 72501133 72501133 + Missense_Mutation SNP G G A rs143294717 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr15:72501133G>A ENST00000319622.6 - 6 1121 c.665C>T c.(664-666)tCg>tTg p.S222L PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L|PKM_ENST00000335181.5_Missense_Mutation_p.S222L|PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 GTCCTTCTCCGACACAGCAGG 0.547000 36 78 0 0 0.000814825 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129105 150129105 + Splice_Site SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:150129105G>T ENST00000369124.4 + 4 597 c.318_splice c.e4-1 p.A107_splice PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.A107_splice NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 107 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCCCTCACAGGCACCCAACCT 0.478000 10 64 3.07112e-06 3.98758e-05 0.000978159 1 0 POLR2B 5431 broad.mit.edu 37 4 57896547 57896547 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:57896547C>T ENST00000381227.1 + 25 3830 c.3417C>T c.(3415-3417)ggC>ggT p.G1139G POLR2B_ENST00000431623.2_Silent_p.G1064G|POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000314595.5_Silent_p.G1139G P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 1139 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AATGCAGGGGCTGCCGCAATA 0.433000 17 20 0 0 0.000422831 0 0 UBE3B 89910 broad.mit.edu 37 12 109972570 109972570 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:109972570G>T ENST00000342494.3 + 28 3785 c.3190G>T c.(3190-3192)Ggc>Tgc p.G1064C UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1064 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CATGAACACGGGCTTTGAACT 0.617000 5 91 0.000602214 0.00746381 0.000602214 1 0 ATR 545 broad.mit.edu 37 3 142176456 142176456 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:142176456G>T ENST00000350721.4 - 45 7766 c.7645C>A c.(7645-7647)Cct>Act p.P2549T ATR_ENST00000383101.3_Missense_Mutation_p.P2485T NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2549 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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 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 CTCATTAAAGGCTCTCGCTGA 0.373000 Other conserved DNA damage response genes 40 38 1.22674e-20 1.70081e-19 0.00195071 1 0 CELF1 10658 broad.mit.edu 37 11 47510570 47510570 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:47510570C>T ENST00000531165.1 - 4 356 c.78G>A c.(76-78)aaG>aaA p.K26K CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000361904.3_5'UTR|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000310513.5_5'UTR Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 0 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CGTTCATTTTCTTTGAGCTGT 0.403000 7 60 0 0 0.00198382 0 0 NXPH2 11249 broad.mit.edu 37 2 139429083 139429083 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:139429083G>A ENST00000272641.3 - 2 310 c.204C>T c.(202-204)ccC>ccT p.P68P NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 68 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) CCATGGGGCCGGGCTTGGGCA 0.552000 52 107 0 0 0.000781405 0 0 EGFR 1956 broad.mit.edu 37 7 55210002 55210002 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr7:55210002C>G ENST00000275493.2 + 2 289 c.112C>G c.(112-114)Ctc>Gtc p.L38V EGFR_ENST00000342916.3_Missense_Mutation_p.L38V|EGFR_ENST00000442591.1_Missense_Mutation_p.L38V|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000420316.2_Missense_Mutation_p.L38V|EGFR_ENST00000344576.2_Missense_Mutation_p.L38V|EGFR_ENST00000455089.1_Missense_Mutation_p.L38V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 38 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GAGTAACAAGCTCACGCAGTT 0.408000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 33 62 0 0 0.00209593 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 54 0 0 0.00024832 0 0 ENO2 2026 broad.mit.edu 37 12 7025014 7025014 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:7025014C>T ENST00000535366.1 + 1 644 c.18C>T c.(16-18)atC>atT p.I6I ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 6 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TAGAGAAGATCTGGGCCCGGG 0.577000 64 282 0 0 0.000781405 0 0 PCGF3 10336 broad.mit.edu 37 4 755159 755159 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:755159G>A ENST00000362003.5 + 9 950 c.555G>A c.(553-555)ctG>ctA p.L185L PCGF3_ENST00000505655.2_Silent_p.L185L|PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000470161.2_Silent_p.L185L NM_006315.4 NP_006306.2 Q3KNV8 PCGF3_HUMAN polycomb group ring finger 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 TCTTGCATCTGAAGAAGTTCA 0.498000 6 67 0 0 0.00116845 0 0 BTNL8 79908 broad.mit.edu 37 5 180335857 180335857 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:180335857G>T ENST00000231229.4 + 2 555 c.321G>T c.(319-321)ttG>ttT p.L107F BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.L107F NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 107 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTACTGTGTTGGATGCTGGCC 0.473000 13 207 1.49906e-05 0.000191598 0.00244969 1 0 PCNXL3 399909 broad.mit.edu 37 11 65402557 65402557 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:65402557C>T ENST00000355703.3 + 30 5458 c.4919C>T c.(4918-4920)gCg>gTg p.A1640V NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1640 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGCGTTGTGGCGCCTGGGGTT 0.647000 10 26 0 0 0.000978159 0 0 SARNP 84324 broad.mit.edu 37 12 56182870 56182870 + Missense_Mutation SNP T T C rs138765992 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:56182870T>C ENST00000546837.1 - 14 1426 c.1427A>G c.(1426-1428)aAt>aGt p.N476S SARNP_ENST00000552080.1_Missense_Mutation_p.I164V|SARNP_ENST00000336133.3_Missense_Mutation_p.I164V|SARNP_ENST00000444631.2_Missense_Mutation_p.I104V TTTCTGGAGATTGAAGAGACA 0.368000 30 70 0 0 0.001512 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 89 0 0 0.000602214 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911661 100911661 + Missense_Mutation SNP T T C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:100911661T>C ENST00000328766.5 - 5 1367 c.914A>G c.(913-915)gAc>gGc p.D305G ARMCX2_ENST00000356824.4_Missense_Mutation_p.D305G|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D305G NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 305 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CCCCAGTTCGTCTACTTCAAC 0.587000 64 27 0 0 0.000781405 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794765 124794765 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr11:124794765G>C ENST00000298251.4 - 2 691 c.286C>G c.(286-288)Cga>Gga p.R96G NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 96 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane p.R96*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) ATACGGTCTCGATAGTCAGGC 0.592000 45 74 0 0 0.00222228 0 0 STAC2 342667 broad.mit.edu 37 17 37371437 37371437 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr17:37371437G>A ENST00000333461.5 - 5 1002 c.633C>T c.(631-633)ggC>ggT p.G211G NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 211 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCAGGGAGGTGCCATAGCGCA 0.592000 32 59 0 0 0.000814825 0 0 BTNL8 79908 broad.mit.edu 37 5 180335874 180335874 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:180335874G>T ENST00000231229.4 + 2 572 c.338G>T c.(337-339)gGg>gTg p.G113V BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.G113V NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 113 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCTCTATGGGTGCAGGATT 0.478000 12 209 0.000151284 0.00190386 0.00185496 1 0 MUC16 94025 broad.mit.edu 37 19 9074800 9074800 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:9074800T>G ENST00000397910.4 - 3 12849 c.12646A>C c.(12646-12648)Agt>Cgt p.S4216R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4218 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGGTAAACTTGTGCCAGGT 0.498000 11 62 0 0 0.000673444 0 0 ETFDH 2110 broad.mit.edu 37 4 159620266 159620266 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:159620266A>G ENST00000511912.1 + 9 1432 c.1100A>G c.(1099-1101)aAt>aGt p.N367S ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 367 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) AGAGCTCTCAATGAAGGTGGC 0.378000 16 14 0 0 0.000566183 0 0 RPL36 25873 broad.mit.edu 37 19 5691333 5691333 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:5691333C>G ENST00000577222.1 + 5 641 c.97C>G c.(97-99)Ctg>Gtg p.L33V RPL36_ENST00000394580.2_Missense_Mutation_p.L33V|RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V Q9Y3U8 RL36_HUMAN ribosomal protein L36 33 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome breast(1)|upper_aerodigestive_tract(1) 2 CCCCTAGCGTCTGACCAAACA 0.602000 OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 68 0 0 0.000953801 0 0 FREM2 341640 broad.mit.edu 37 13 39262438 39262438 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr13:39262438G>A ENST00000280481.7 + 1 1173 c.957G>A c.(955-957)aaG>aaA p.K319K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 319 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGCACCCAAGCCCAGTTTCG 0.607000 20 22 0 0 0.00152264 0 0 COL5A3 50509 broad.mit.edu 37 19 10077031 10077031 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:10077031C>T ENST00000264828.3 - 64 4826 c.4741G>A c.(4741-4743)Gga>Aga p.G1581R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1581 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GTCTCTCCTCCCGCCGTGAAG 0.602000 19 26 0 0 0.00121646 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 21 0 0 0.00024832 0 0 LIPG 9388 broad.mit.edu 37 18 47101893 47101893 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr18:47101893C>T ENST00000261292.4 + 5 1004 c.726C>T c.(724-726)taC>taT p.Y242Y LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000577628.1_Silent_p.Y278Y|LIPG_ENST00000427224.2_Intron NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 242 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TTGACATCTACCCCAATGGGG 0.507000 8 85 0 0 0.000274275 0 0 ZNF449 203523 broad.mit.edu 37 X 134483238 134483238 + Splice_Site SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:134483238T>G ENST00000339249.4 + 3 698 c.559_splice c.e3+1 p.P186_splice NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 186 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGGACCCTGGTAAGGCAA 0.512000 16 39 0 0 0.000308642 0 0 OGDH 4967 broad.mit.edu 37 7 44747333 44747333 + Silent SNP C C G rs1135689 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr7:44747333C>G ENST00000222673.5 + 22 2991 c.2949C>G c.(2947-2949)gtC>gtG p.V983V OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000447398.1_Silent_p.V994V|OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000439616.2_Silent_p.V833V NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 983 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCAAGCCCGTCTGGTAAGGCT 0.612000 29 52 0 0 0.00106085 0 0 NRAP 4892 broad.mit.edu 37 10 115391662 115391662 + Missense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:115391662G>A ENST00000369358.4 - 17 1938 c.1694C>T c.(1693-1695)gCc>gTc p.A565V NRAP_ENST00000360478.3_Missense_Mutation_p.A530V|NRAP_ENST00000359988.3_Missense_Mutation_p.A565V|NRAP_ENST00000369360.3_Missense_Mutation_p.A530V Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 565 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGAGACATGGCATCCAGCTT 0.448000 53 74 0 0 0.000781405 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56732960 56732960 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:56732960T>G ENST00000587340.1 - 7 2170 c.1475A>C c.(1474-1476)gAa>gCa p.E492A ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 492 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGAAGTAGCTTCTGGATGTGT 0.433000 30 50 0 0 0.0024448 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185363333 185363333 + Nonsense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:185363333G>A ENST00000382199.2 - 16 1881 c.1786C>T c.(1786-1788)Cag>Tag p.Q596* IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539* NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 596 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTGCTGCGCTGTGAGGCGACT 0.547000 100 46 0 0 0.000781405 0 0 KIF3A 11127 broad.mit.edu 37 5 132037805 132037805 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:132037805C>G ENST00000378746.4 - 13 1995 c.1777G>C c.(1777-1779)Gat>Cat p.D593H KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H|AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 593 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAAAGTTATCAATAATAAGC 0.413000 26 22 0 0 0.000878237 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 40 0 0 0.00116845 0 0 ADCY6 112 broad.mit.edu 37 12 49176996 49176996 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr12:49176996G>A ENST00000307885.4 - 1 916 c.222C>T c.(220-222)ggC>ggT p.G74G ADCY6_ENST00000550422.1_Silent_p.G74G|ADCY6_ENST00000357869.3_Silent_p.G74G NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 74 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 TGCCTGGGCCGCCCCTCCGGA 0.721000 22 35 0 0 0.00188189 0 0 SERBP1 26135 broad.mit.edu 37 1 67895933 67895933 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:67895933G>C ENST00000370994.4 - 1 165 c.51C>G c.(49-51)ttC>ttG p.F17L SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L|SERBP1_ENST00000370995.2_Missense_Mutation_p.F17L NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 17 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 ATAACTGGTCGAATCGGTTGG 0.642000 51 42 0 0 0.000781405 0 0 LILRB5 10990 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 4 46 0 0 0.00024832 0 0 FAT1 2195 broad.mit.edu 37 4 187517826 187517826 + Nonsense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:187517826C>A ENST00000441802.2 - 25 13077 c.12868G>T c.(12868-12870)Gag>Tag p.E4290* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4290 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCACAGACTCGGGGTTAAAA 0.557000 HNSCC(5;0.00058) 22 12 8.10497e-08 1.06933e-06 0.00152264 1 0 MIR518D 574489 broad.mit.edu 37 19 54238204 54238204 + RNA SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:54238204G>A ENST00000385014.1 + 0 74 NR_030211.1 CCTTTGGAGCGTTACGGTTTG 0.453000 5 55 0 0 0.000602214 0 0 USP6NL 9712 broad.mit.edu 37 10 11505354 11505354 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr10:11505354C>T ENST00000379237.1 - 15 1967 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M USP6NL_ENST00000277575.5_Missense_Mutation_p.V542M NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 525 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GACACCCGCACCTCGGCAGGA 0.622000 50 131 0 0 0.000781405 0 0 EGFLAM 133584 broad.mit.edu 37 5 38464067 38464067 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:38464067C>G ENST00000322350.5 + 22 3355 c.3009C>G c.(3007-3009)atC>atG p.I1003M EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I1011M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 1011 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGAAAAACATCAACACTTGTG 0.527000 7 94 0 0 0.00198382 0 0 PHACTR1 221692 broad.mit.edu 37 6 13230292 13230292 + Silent SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr6:13230292A>C ENST00000379350.1 + 9 1387 c.1258A>C c.(1258-1260)Agg>Cgg p.R420R PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 420 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GAAGGTCTGCAGGAAGGACTC 0.547000 4 6 0 0 0.00024832 0 0 PRSS22 64063 broad.mit.edu 37 16 2905603 2905603 + Silent SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr16:2905603G>T ENST00000161006.3 - 4 596 c.531C>A c.(529-531)atC>atA p.I177I PRSS22_ENST00000571228.1_Intron NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 177 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 CCCAGCCTGAGATCCAGCAGT 0.602000 14 48 2.61681e-11 3.56759e-10 0.00244969 1 0 IKZF2 22807 broad.mit.edu 37 2 213878609 213878609 + Missense_Mutation SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr2:213878609A>C ENST00000457361.1 - 7 930 c.762T>G c.(760-762)aaT>aaG p.N254K IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000434687.1_Missense_Mutation_p.N254K|IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCAGAGAAATATTGTTGTCCA 0.393000 12 61 0 0 0.00136819 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 8 60 0 0 0.000274275 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420103 153420103 + Missense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:153420103C>A ENST00000369951.4 + 4 693 c.633C>A c.(631-633)agC>agA p.S211R OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 211 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCAGCGGCAGCTCGTACCCCG 0.607000 45 16 2.69953e-25 3.80727e-24 0.000781405 1 0 COL5A3 50509 broad.mit.edu 37 19 10077032 10077032 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:10077032C>T ENST00000264828.3 - 64 4825 c.4740G>A c.(4738-4740)gcG>gcA p.A1580A NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1580 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTCTCCTCCCGCCGTGAAGT 0.602000 19 24 0 0 0.00188189 0 0 TEX15 56154 broad.mit.edu 37 8 30705568 30705568 + Missense_Mutation SNP A A T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr8:30705568A>T ENST00000256246.2 - 1 1040 c.966T>A c.(964-966)gaT>gaA p.D322E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 322 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATGCTAGATGATCTAGTTCAT 0.343000 13 29 0 0 0.000308642 0 0 GABRA2 2555 broad.mit.edu 37 4 46388201 46388201 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr4:46388201A>G ENST00000507460.1 - 3 409 c.77T>C c.(76-78)gTg>gCg p.V26A GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.V26A|GABRA2_ENST00000507069.1_Missense_Mutation_p.V26A|GABRA2_ENST00000510861.1_Missense_Mutation_p.V26A|GABRA2_ENST00000381620.4_Missense_Mutation_p.V26A|GABRA2_ENST00000356504.1_Missense_Mutation_p.V26A|GABRA2_ENST00000515082.1_Missense_Mutation_p.V26A|GABRA2_ENST00000509716.1_5'UTR P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 26 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTTAGCCAGCACCAACCTAAA 0.343000 9 18 0 0 0.000274275 0 0 AKT2 208 broad.mit.edu 37 19 40740869 40740869 + Missense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr19:40740869C>A ENST00000579047.1 - 12 1564 c.1263G>T c.(1261-1263)gaG>gaT p.E421D AKT2_ENST00000424901.1_Intron|AKT2_ENST00000311278.6_Intron|AKT2_ENST00000392038.2_Intron P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 113 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TTCGAGGGCCCTCCTTGAGAA 0.632000 A """ovarian, pancreatic """ 7 17 2.7689e-08 3.71304e-07 0.00198382 1 0 ALG3 10195 broad.mit.edu 37 3 183960340 183960340 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:183960340A>G ENST00000455059.1 - 9 1613 c.1159T>C c.(1159-1161)Ttc>Ctc p.F387L ALG3_ENST00000445626.2_Missense_Mutation_p.F379L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.F427L|ALG3_ENST00000418734.2_Missense_Mutation_p.F371L Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 427 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTCTTGGGGAAAGGCTGCGGG 0.597000 44 154 0 0 0.00285205 0 0 PRKD3 23683 broad.mit.edu 37 2 37505102 37505102 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr2:37505102C>T ENST00000379066.1 - 9 1965 c.1203G>A c.(1201-1203)atG>atA p.M401I PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I O94806 KPCD3_HUMAN protein kinase D3 401 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) GTACAACCCTCATTAGCGGAA 0.363000 15 99 0 0 0.002450 0 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 7 0 0 0.004672 0 0 CASZ1 54897 broad.mit.edu 37 1 10714479 10714479 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr1:10714479C>T ENST00000377022.3 - 10 2152 c.1835G>A c.(1834-1836)tGc>tAc p.C612Y CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGCTTACCTGCAGTGGAAGTG 0.652000 24 51 0 0 0.002299 0 0 BLNK 29760 broad.mit.edu 37 10 97987176 97987176 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr10:97987176G>A ENST00000224337.5 - 5 492 c.351C>T c.(349-351)ggC>ggT p.G117G BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 117 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CTATATACTCGCCTCTGGCGA 0.652000 35 61 0 0 0.003271 0 0 ABO 28 broad.mit.edu 37 9 136132874 136132874 + RNA SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr9:136132874G>A ENST00000453660.2 - 0 306 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GATGTTGAATGTGCCCTCCCA 0.557000 33 38 0 0 0.002096 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56732960 56732960 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:56732960T>G ENST00000587340.1 - 7 2170 c.1475A>C c.(1474-1476)gAa>gCa p.E492A ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 492 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGAAGTAGCTTCTGGATGTGT 0.433000 30 50 0 0 0.002445 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728546 20728546 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:20728546G>C ENST00000427401.4 - 4 557 c.463C>G c.(463-465)Cat>Gat p.H155D NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 155 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GAAAATTTATGAATGACTTTC 0.308000 17 29 0 0 0.004007 0 0 PKM 5315 broad.mit.edu 37 15 72501133 72501133 + Missense_Mutation SNP G G A rs143294717 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr15:72501133G>A ENST00000319622.6 - 6 1121 c.665C>T c.(664-666)tCg>tTg p.S222L PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L|PKM_ENST00000335181.5_Missense_Mutation_p.S222L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 GTCCTTCTCCGACACAGCAGG 0.547000 36 78 0 0 0.004289 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129105 150129105 + Splice_Site SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr1:150129105G>T ENST00000369124.4 + 4 597 c.318_splice c.e4-1 p.A107_splice PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.A107_splice|PLEKHO1_ENST00000369126.1_5'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 107 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CCCCTCACAGGCACCCAACCT 0.478000 10 64 3.07112e-06 4.97646e-05 0.000978 1 0 POLR2B 5431 broad.mit.edu 37 4 57896547 57896547 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr4:57896547C>T ENST00000381227.1 + 25 3830 c.3417C>T c.(3415-3417)ggC>ggT p.G1139G POLR2B_ENST00000314595.5_Silent_p.G1139G|POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000431623.2_Silent_p.G1064G P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 1139 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AATGCAGGGGCTGCCGCAATA 0.433000 17 20 0 0 0.004007 0 0 UBE3B 89910 broad.mit.edu 37 12 109972570 109972570 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr12:109972570G>T ENST00000342494.3 + 28 3785 c.3190G>T c.(3190-3192)Ggc>Tgc p.G1064C UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1064 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CATGAACACGGGCTTTGAACT 0.617000 5 91 0.000602214 0.00919535 0.000602 1 0 ATR 545 broad.mit.edu 37 3 142176456 142176456 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr3:142176456G>T ENST00000350721.4 - 45 7766 c.7645C>A c.(7645-7647)Cct>Act p.P2549T ATR_ENST00000383101.3_Missense_Mutation_p.P2485T NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2549 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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 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 CTCATTAAAGGCTCTCGCTGA 0.373000 Other conserved DNA damage response genes 40 38 1.22674e-20 2.11747e-19 0.001951 1 0 CELF1 10658 broad.mit.edu 37 11 47510570 47510570 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr11:47510570C>T ENST00000531165.1 - 4 356 c.78G>A c.(76-78)aaG>aaA p.K26K CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000361904.3_5'UTR|CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000310513.5_5'UTR Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 0 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CGTTCATTTTCTTTGAGCTGT 0.403000 7 60 0 0 0.001984 0 0 NXPH2 11249 broad.mit.edu 37 2 139429083 139429083 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr2:139429083G>A ENST00000272641.3 - 2 310 c.204C>T c.(202-204)ccC>ccT p.P68P NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 68 II. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) CCATGGGGCCGGGCTTGGGCA 0.552000 52 107 0 0 0.003610 0 0 ENO2 2026 broad.mit.edu 37 12 7025014 7025014 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr12:7025014C>T ENST00000535366.1 + 1 644 c.18C>T c.(16-18)atC>atT p.I6I ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I|ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 6 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TAGAGAAGATCTGGGCCCGGG 0.577000 64 282 0 0 0.003610 0 0 PCGF3 10336 broad.mit.edu 37 4 755159 755159 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr4:755159G>A ENST00000362003.5 + 9 950 c.555G>A c.(553-555)ctG>ctA p.L185L PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000470161.2_Silent_p.L185L|PCGF3_ENST00000505655.2_Silent_p.L185L NM_006315.4 NP_006306.2 Q3KNV8 PCGF3_HUMAN polycomb group ring finger 3 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(1) 7 TCTTGCATCTGAAGAAGTTCA 0.498000 6 67 0 0 0.001168 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659621 24659621 + RNA SNP T T C rs116751564 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr22:24659621T>C ENST00000414583.2 + 0 3146 NR_003714.1 CCTGGATGTCTGCGGCCACAC 0.637000 5 25 0 0 0.000602 0 0 BTNL8 79908 broad.mit.edu 37 5 180335857 180335857 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr5:180335857G>T ENST00000231229.4 + 2 555 c.321G>T c.(319-321)ttG>ttT p.L107F BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000340184.4_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 107 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTACTGTGTTGGATGCTGGCC 0.473000 13 207 1.49906e-05 0.000238051 0.002450 1 0 SARNP 84324 broad.mit.edu 37 12 56182870 56182870 + Missense_Mutation SNP T T C rs138765992 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr12:56182870T>C ENST00000546837.1 - 14 1426 c.1427A>G c.(1426-1428)aAt>aGt p.N476S SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|SARNP_ENST00000336133.3_Missense_Mutation_p.I164V|SARNP_ENST00000552080.1_Missense_Mutation_p.I164V TTTCTGGAGATTGAAGAGACA 0.368000 30 70 0 0 0.001512 0 0 STAC2 342667 broad.mit.edu 37 17 37371437 37371437 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr17:37371437G>A ENST00000333461.5 - 5 1002 c.633C>T c.(631-633)ggC>ggT p.G211G NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 211 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCAGGGAGGTGCCATAGCGCA 0.592000 32 59 0 0 0.004289 0 0 BTNL8 79908 broad.mit.edu 37 5 180335874 180335874 + Missense_Mutation SNP G G T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr5:180335874G>T ENST00000231229.4 + 2 572 c.338G>T c.(337-339)gGg>gTg p.G113V BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000340184.4_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 113 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCCTCTATGGGTGCAGGATT 0.478000 12 209 0.000151284 0.00235529 0.001855 1 0 MUC16 94025 broad.mit.edu 37 19 9074800 9074800 + Missense_Mutation SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:9074800T>G ENST00000397910.4 - 3 12849 c.12646A>C c.(12646-12648)Agt>Cgt p.S4216R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4218 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGGTAAACTTGTGCCAGGT 0.498000 11 62 0 0 0.000673 0 0 ETFDH 2110 broad.mit.edu 37 4 159620266 159620266 + Missense_Mutation SNP A A G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr4:159620266A>G ENST00000511912.1 + 9 1432 c.1100A>G c.(1099-1101)aAt>aGt p.N367S ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 367 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) AGAGCTCTCAATGAAGGTGGC 0.378000 16 14 0 0 0.004990 0 0 RPL36 25873 broad.mit.edu 37 19 5691333 5691333 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:5691333C>G ENST00000577222.1 + 5 641 c.97C>G c.(97-99)Ctg>Gtg p.L33V RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000394580.2_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V Q9Y3U8 RL36_HUMAN ribosomal protein L36 33 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome breast(1)|upper_aerodigestive_tract(1) 2 CCCCTAGCGTCTGACCAAACA 0.602000 OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 68 0 0 0.004878 0 0 FREM2 341640 broad.mit.edu 37 13 39262438 39262438 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr13:39262438G>A ENST00000280481.7 + 1 1173 c.957G>A c.(955-957)aaG>aaA p.K319K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 319 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGCACCCAAGCCCAGTTTCG 0.607000 20 22 0 0 0.001523 0 0 COL5A3 50509 broad.mit.edu 37 19 10077031 10077031 + Missense_Mutation SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:10077031C>T ENST00000264828.3 - 64 4826 c.4741G>A c.(4741-4743)Gga>Aga p.G1581R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1581 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GTCTCTCCTCCCGCCGTGAAG 0.602000 19 26 0 0 0.001216 0 0 LIPG 9388 broad.mit.edu 37 18 47101893 47101893 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr18:47101893C>T ENST00000261292.4 + 5 1004 c.726C>T c.(724-726)taC>taT p.Y242Y LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000577628.1_Silent_p.Y278Y|LIPG_ENST00000427224.2_Intron NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 242 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 TTGACATCTACCCCAATGGGG 0.507000 8 85 0 0 0.004482 0 0 ZNF449 203523 broad.mit.edu 37 X 134483238 134483238 + Splice_Site SNP T T G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chrX:134483238T>G ENST00000339249.4 + 3 698 c.559_splice c.e3+1 p.P186_splice NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 186 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGGACCCTGGTAAGGCAA 0.512000 16 39 0 0 0.003163 0 0 OGDH 4967 broad.mit.edu 37 7 44747333 44747333 + Silent SNP C C G rs1135689 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr7:44747333C>G ENST00000222673.5 + 22 2991 c.2949C>G c.(2947-2949)gtC>gtG p.V983V OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000439616.2_Silent_p.V833V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000447398.1_Silent_p.V994V NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 983 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCAAGCCCGTCTGGTAAGGCT 0.612000 29 52 0 0 0.006320 0 0 NRAP 4892 broad.mit.edu 37 10 115391662 115391662 + Missense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr10:115391662G>A ENST00000369358.4 - 17 1938 c.1694C>T c.(1693-1695)gCc>gTc p.A565V NRAP_ENST00000369360.3_Missense_Mutation_p.A530V|NRAP_ENST00000359988.3_Missense_Mutation_p.A565V|NRAP_ENST00000360478.3_Missense_Mutation_p.A530V Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 565 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGAGACATGGCATCCAGCTT 0.448000 53 74 0 0 0.003610 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185363333 185363333 + Nonsense_Mutation SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr3:185363333G>A ENST00000382199.2 - 16 1881 c.1786C>T c.(1786-1788)Cag>Tag p.Q596* IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539* NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 596 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TTGCTGCGCTGTGAGGCGACT 0.547000 100 46 0 0 0.003610 0 0 KIF3A 11127 broad.mit.edu 37 5 132037805 132037805 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr5:132037805C>G ENST00000378746.4 - 13 1995 c.1777G>C c.(1777-1779)Gat>Cat p.D593H KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 593 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAAAGTTATCAATAATAAGC 0.413000 26 22 0 0 0.005443 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 6 137 0 0 0.001168 0 0 SERBP1 26135 broad.mit.edu 37 1 67895933 67895933 + Missense_Mutation SNP G G C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr1:67895933G>C ENST00000370994.4 - 1 165 c.51C>G c.(49-51)ttC>ttG p.F17L SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L|SERBP1_ENST00000370995.2_Missense_Mutation_p.F17L NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 17 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 ATAACTGGTCGAATCGGTTGG 0.642000 51 42 0 0 0.003610 0 0 FAT1 2195 broad.mit.edu 37 4 187517826 187517826 + Nonsense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr4:187517826C>A ENST00000441802.2 - 25 13077 c.12868G>T c.(12868-12870)Gag>Tag p.E4290* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4290 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCACAGACTCGGGGTTAAAA 0.557000 HNSCC(5;0.00058) 22 12 8.10497e-08 1.3407e-06 0.001523 1 0 MIR518D 574489 broad.mit.edu 37 19 54238204 54238204 + RNA SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:54238204G>A ENST00000385014.1 + 0 74 NR_030211.1 CCTTTGGAGCGTTACGGTTTG 0.453000 5 55 0 0 0.000602 0 0 EGFLAM 133584 broad.mit.edu 37 5 38464067 38464067 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr5:38464067C>G ENST00000322350.5 + 22 3355 c.3009C>G c.(3007-3009)atC>atG p.I1003M EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I1011M NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 1011 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGAAAAACATCAACACTTGTG 0.527000 7 94 0 0 0.001984 0 0 PHACTR1 221692 broad.mit.edu 37 6 13230292 13230292 + Silent SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr6:13230292A>C ENST00000379350.1 + 9 1387 c.1258A>C c.(1258-1260)Agg>Cgg p.R420R PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 420 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GAAGGTCTGCAGGAAGGACTC 0.547000 4 6 0 0 0.000248 0 0 IKZF2 22807 broad.mit.edu 37 2 213878609 213878609 + Missense_Mutation SNP A A C TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr2:213878609A>C ENST00000457361.1 - 7 930 c.762T>G c.(760-762)aaT>aaG p.N254K IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000434687.1_Missense_Mutation_p.N254K NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCAGAGAAATATTGTTGTCCA 0.393000 12 61 0 0 0.001368 0 0 COL5A3 50509 broad.mit.edu 37 19 10077032 10077032 + Silent SNP C C T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:10077032C>T ENST00000264828.3 - 64 4825 c.4740G>A c.(4738-4740)gcG>gcA p.A1580A NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1580 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTCTCCTCCCGCCGTGAAGT 0.602000 19 24 0 0 0.001882 0 0 TEX15 56154 broad.mit.edu 37 8 30705568 30705568 + Missense_Mutation SNP A A T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr8:30705568A>T ENST00000256246.2 - 1 1040 c.966T>A c.(964-966)gaT>gaA p.D322E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 322 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATGCTAGATGATCTAGTTCAT 0.343000 13 29 0 0 0.003163 0 0 NWD1 284434 broad.mit.edu 37 19 16902349 16902349 + Missense_Mutation SNP C C G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:16902349C>G ENST00000524140.2 + 14 3547 c.3129C>G c.(3127-3129)atC>atG p.I1043M NWD1_ENST00000552788.1_Missense_Mutation_p.I1043M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000339803.6_Missense_Mutation_p.I908M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1043 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTCCAGCATCAAAGAAGAAA 0.517000 34 69 0 0 0.002445 0 0 AKT2 208 broad.mit.edu 37 19 40740869 40740869 + Missense_Mutation SNP C C A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr19:40740869C>A ENST00000579047.1 - 12 1564 c.1263G>T c.(1261-1263)gaG>gaT p.E421D AKT2_ENST00000311278.6_Intron|AKT2_ENST00000424901.1_Intron|AKT2_ENST00000392038.2_Intron P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 113 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) TTCGAGGGCCCTCCTTGAGAA 0.632000 A """ovarian, pancreatic """ 7 17 2.7689e-08 4.67767e-07 0.001984 1 0 RAD54L 8438 broad.mit.edu 37 1 46726555 46726556 + Frame_Shift_Ins INS - - AC TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr1:46726555_46726556insAC ENST00000371975.4 + 7 1308_1309 c.634_635insAC c.(634-636)caafs p.Q212fs RAD54L_ENST00000442598.1_Frame_Shift_Ins_p.Q212fs NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 212 Helicase ATP-binding. meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GCCAGAAATTGACAAGGCAGTG 0.535 Direct reversal of damage;Homologous recombination 30 68 --- --- --- --- FGD5P1 100132526 broad.mit.edu 37 3 13978444 13978445 + RNA INS - - A rs11301897 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:13978444_13978445insA ENST00000502451.1 + 0 3377 NR_036481.1 gactccatctcaaaaaaaaaag 0.505 2 4 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 671 --- --- --- --- ANKH 56172 broad.mit.edu 37 5 14716943 14716944 + Splice_Site INS - - G TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr5:14716943_14716944insG ENST00000284268.6 - 9 1342_1343 c.1011_splice c.e9-1 p.L338_splice ANKH_ENST00000535119.1_Splice_Site_p.L140_splice NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 338 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CACGAAACAGAGCTGGGGAGAA 0.455 17 23 --- --- --- --- DOPEY1 23033 broad.mit.edu 37 6 83866921 83866941 + In_Frame_Del DEL CGTTTGCCACAGGTGCCAACT CGTTTGCCACAGGTGCCAACT - TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT ENST00000349129.2 + 35 6885_6905 c.6625_6645delCGTTTGCCACAGGTGCCAACT c.(6625-6645)del p.RLPQVPT2209del DOPEY1_ENST00000369739.3_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 2209 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGAGAGTCTCCGTTTGCCACAGGTGCCAACTCTCCATTCTC 0.389 9 70 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578471 7578478 + Frame_Shift_Del DEL GGGCGGGG GGGCGGGG - rs137852790 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chr17:7578471_7578478delGGGCGGGG ENST00000420246.2 - 5 584_591 c.452_459delCCCCGCCC c.(451-459)cfs p.PPP151fs TP53_ENST00000413465.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPP151fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(66)|p.P151H(31)|p.P152S(22)|p.P151P(12)|p.P153fs*28(11)|p.P151R(9)|p.P152R(8)|p.P153S(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P152fs*18(7)|p.P153P(7)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P152Q(4)|p.P153T(3)|p.G154fs*27(3)|p.P59L(2)|p.G154fs*16(2)|p.P58H(2)|p.P152fs*28(2)|p.P20L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P152A(2)|p.P19H(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P58R(1)|p.P151del(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P151fs*30(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19R(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(1)|p.P152_P153del(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) CGCGGGTGCCGGGCGGGGGTGTGGAATC 0.606 111 """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) 23 30 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 7c493e26-33c4-495d-ad0c-a9fb423124fa g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 2 --- --- --- --- MED15P9 285103 broad.mit.edu 37 2 130893080 130893081 + RNA INS - - A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr2:130893080_130893081insA ENST00000427638.1 + 0 541_542 NR_033903.1 gactccatctcaaaaaaaaaaa 0.564 3 5 --- --- --- --- FGD5P1 100132526 broad.mit.edu 37 3 13978444 13978445 + RNA INS - - A rs11301897 by1000genomes TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr3:13978444_13978445insA ENST00000502451.1 + 0 3377 NR_036481.1 gactccatctcaaaaaaaaaag 0.505 2 4 --- --- --- --- B3GNT5 84002 broad.mit.edu 37 3 182987673 182987674 + Frame_Shift_Ins INS - - T TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx e04f3556-ae16-410d-bc03-1057ae308329 781ad94b-11bb-408a-879a-5ce9defc3d2a g.chr3:182987673_182987674insT ENST00000326505.3 + 2 617_618 c.87_88insT c.(85-90)atttttfs p.IF29fs B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.IF29fs|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.IF29fs|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 29 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGAGCCTCATGTTTTTTTGGGA 0.356 7 824 --- --- --- ---