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 HLA-C 3107 broad.mit.edu 37 6 31239513 31239513 + Missense_Mutation SNP C C T rs41548913 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr6:31239513C>T ENST00000383329.3 - 2 220 c.206G>A c.(205-207)gGg>gAg p.G69E HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 69 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex p.G69E(5) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CCGCGGCTCCCCTCTCGGACT 0.697000 3 42 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108173735 108173735 + Silent SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr11:108173735A>G ENST00000278616.4 + 36 5860 c.5475A>G c.(5473-5475)caA>caG p.Q1825Q ATM_ENST00000452508.2_Silent_p.Q1825Q NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1825 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AAATTCTTCAATTATTAAAGC 0.333000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 6 60 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52440136 52440136 + Missense_Mutation SNP G G A rs78877659 by1000genomes TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:52440136G>A ENST00000242819.4 + 2 918 c.622G>A c.(622-624)Gga>Aga p.G208R NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 208 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CCACATTGCCGGAGAGCAGAT 0.607000 3 31 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14287075 14287075 + Missense_Mutation SNP C C G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr5:14287075C>G ENST00000344204.4 + 4 467 c.443C>G c.(442-444)tCc>tGc p.S148C TRIO_ENST00000509967.2_Missense_Mutation_p.S99C|TRIO_ENST00000537187.1_Missense_Mutation_p.S148C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 148 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CTGCAGGAGTCCTTCCCCTGC 0.522000 20 46 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148787930 148787930 + Missense_Mutation SNP A A G rs145720035 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr4:148787930A>G ENST00000336498.3 + 7 904 c.665A>G c.(664-666)aAt>aGt p.N222S NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 222 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) AAAGACTTCAATCACTACAAA 0.343000 OREG0016355 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 43 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161960 151161960 + Silent SNP T T A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr6:151161960T>A ENST00000367328.1 + 17 4398 c.4086T>A c.(4084-4086)tcT>tcA p.S1362S PLEKHG1_ENST00000358517.2_Silent_p.S1362S NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1362 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGGGGCCATCTCCCAATCAAC 0.393000 24 53 0 0 1 0 0 RGL4 266747 broad.mit.edu 37 22 24034583 24034583 + Missense_Mutation SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr22:24034583C>A ENST00000290691.5 + 2 1411 c.241C>A c.(241-243)Ccg>Acg p.P81T RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 81 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CTATCAGCCCCCGCAACGGTC 0.547000 5 88 0.014758 0.0164942 1 1 0 TPI1 7167 broad.mit.edu 37 12 6976729 6976729 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr12:6976729C>T ENST00000229270.4 + 1 447 c.110C>T c.(109-111)gCc>gTc p.A37V TPI1_ENST00000396705.5_5'UTR NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 0 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 GGCTCCAGCGCCATGGCGCCC 0.642000 4 9 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38160280 38160280 + Silent SNP G G T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:38160280G>T ENST00000379747.4 - 7 1008 c.891C>A c.(889-891)tcC>tcA p.S297S POSTN_ENST00000379742.4_Silent_p.S297S|POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 297 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AACTACCTTCGGAAGCCACTT 0.423000 5 84 0.217242 0.229311 1 1 0 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr22:44083357C>T ENST00000262726.7 - 11 1389 c.1136G>A c.(1135-1137)aGa>aAa p.R379K EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308000 15 24 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36365080 36365080 + Missense_Mutation SNP C C G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr17:36365080C>G ENST00000312412.4 - 4 514 c.515G>C c.(514-516)cGc>cCc p.R172P RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P kidney(1)|lung(3) 4 AGCAGCATAGCGCACCTCTCC 0.368000 9 21 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52447915 52447915 + Missense_Mutation SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr19:52447915A>G ENST00000293471.6 + 6 1458 c.779A>G c.(778-780)tAt>tGt p.Y260C ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) GAGAAACCCTATGAATGCACT 0.453000 4 62 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824371 54824371 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr20:54824371G>A ENST00000243911.2 + 1 584 c.472G>A c.(472-474)Gtg>Atg p.V158M NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 195 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CATCATGACCGTGAGGAAGGC 0.587000 4 80 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 5 80 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 65956953 65956953 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr15:65956953G>A ENST00000443035.3 - 31 5679 c.5464C>T c.(5464-5466)Cca>Tca p.P1822S DENND4A_ENST00000431932.2_Missense_Mutation_p.P1779S NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TGACTCATTGGTCCATAGACA 0.333000 10 22 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50212251 50212251 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr17:50212251C>T ENST00000340813.6 - 2 496 c.67G>A c.(67-69)Gtg>Atg p.V23M CA10_ENST00000285273.4_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron Q9NS85 CAH10_HUMAN carbonic anhydrase X 0 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ttctccctcacccccaccata 0.562000 4 47 0 0 1 0 0 PIM2 11040 broad.mit.edu 37 X 48776050 48776050 + Splice_Site SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chrX:48776050C>T ENST00000376509.4 - 1 251 c.e1+1 NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GATGTACTCACCTGGCGGCGG 0.697000 3 18 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 98943421 98943421 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr8:98943421G>A ENST00000254898.5 + 3 614 c.383G>A c.(382-384)cGg>cAg p.R128Q MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R128Q NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 128 VWFA 1. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) AAGAGGATGCGGCATCTGTCC 0.587000 3 22 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25268673 25268673 + Missense_Mutation SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:25268673G>A ENST00000218548.6 + 11 1820 c.1487G>A c.(1486-1488)cGc>cAc p.R496H ATP12A_ENST00000381946.3_Missense_Mutation_p.R490H NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 490 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.R490H(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AAAAGAAACCGCAAAGTAGCT 0.393000 OREG0022298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 72 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076986 49076986 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:49076986C>T ENST00000344532.3 - 11 1414 c.991G>A c.(991-993)Gtg>Atg p.V331M RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 331 Ran guanyl-nucleotide exchange factor activity p.V331M(1) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACATGTACACGTGCCCACCC 0.582000 4 43 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345163 20345163 + Missense_Mutation SNP T T C TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr14:20345163T>C ENST00000298642.2 + 1 773 c.737T>C c.(736-738)gTt>gCt p.V246A NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTCATTGTTGTCTTCTTG 0.383000 5 112 0 0 1 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562493 75562493 + Missense_Mutation SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr15:75562493C>A ENST00000300576.5 + 18 2035 c.2035C>A c.(2035-2037)Ccg>Acg p.P679T NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 TGACAACCCCCCGGTACAGCA 0.602000 6 19 0.00116845 0.00138753 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 6 10 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119672576 119672576 + Silent SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chrX:119672576C>A ENST00000371322.5 - 13 1852 c.1791G>T c.(1789-1791)ctG>ctT p.L597L CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000404115.3_Silent_p.L615L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 615 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCCGACTAACAGGCGCTTGG 0.348000 16 114 1.67942e-08 2.05864e-08 1 1 0 UBA7 7318 broad.mit.edu 37 3 49848257 49848257 + Silent SNP G G A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr3:49848257G>A ENST00000333486.3 - 11 1397 c.1239C>T c.(1237-1239)agC>agT p.S413S NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 413 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CATCATAGCGGCTGCCTCTCT 0.557000 3 45 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28854620 28854620 + Missense_Mutation SNP A A T TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr13:28854620A>T ENST00000399613.1 + 15 1724 c.1661A>T c.(1660-1662)tAt>tTt p.Y554F PAN3_ENST00000380958.3_Missense_Mutation_p.Y754F|PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 754 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GCTCGATTTTATACTCAATTG 0.343000 4 84 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828227 72828227 + Missense_Mutation SNP A A C TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr16:72828227A>C ENST00000268489.5 - 9 9026 c.8354T>G c.(8353-8355)cTc>cGc p.L2785R ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2785 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CACAGGTGAGAGGGGGACACC 0.488000 12 36 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33486990 33486990 + Silent SNP G G A rs142685730 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr19:33486990G>A ENST00000254260.3 - 11 1397 c.1362C>T c.(1360-1362)taC>taT p.Y454Y RHPN2_ENST00000400226.4_Silent_p.Y303Y NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 454 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GGTGCTGGGCGTACGTGAGCC 0.622000 3 43 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 4 154 0.0215528 0.0234001 1 1 0 TJP2 9414 broad.mit.edu 37 9 71836075 71836075 + Frame_Shift_Del DEL G G - TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr9:71836075delG ENST00000377245.4 + 5 823 c.615delG c.(613-615)ctfs p.L205fs TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs|TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 205 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 AGCGGGGCCTGGACCAAGACC 0.756 2 4 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21542956 21542961 + In_Frame_Del DEL GAGGAG GAGGAG - TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr14:21542956_21542961delGAGGAG ENST00000298694.4 + 3 1194_1199 c.1067_1072delGAGGAG c.(1066-1074)aga>a p.RGG356del ARHGEF40_ENST00000298693.3_In_Frame_Del_p.RGG356del Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 356 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GGGGAGCTTAGAGGAGGAGGAGGAGG 0.631 4 6 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 4 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4cf3ec1f-022a-44cd-a51e-d8c01300cc36 b036adde-05e3-4393-9109-b4c1573fc6c7 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 4 6 --- --- --- ---