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 COL12A1 1303 broad.mit.edu 37 6 75892975 75892975 + Missense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr6:75892975G>A ENST00000322507.8 - 10 1991 c.1682C>T c.(1681-1683)gCg>gTg p.A561V COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 561 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGTTTTATCGCAGGATCTCT 0.443000 18 131 0 0 0.007413 0 0 F12 2161 broad.mit.edu 37 5 176830536 176830536 + Missense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:176830536G>A ENST00000253496.3 - 11 1381 c.1333C>T c.(1333-1335)Cgc>Tgc p.R445C NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 445 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGTAGGAGCGCACGGCCAAC 0.721000 Hereditary Angioedema 3 16 0 0 0.004672 0 0 KIAA1967 0 broad.mit.edu 37 8 22472959 22472959 + Silent SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:22472959G>A ENST00000308511.4 + 12 1476 c.1227G>A c.(1225-1227)caG>caA p.Q409Q KIAA1967_ENST00000389279.3_Silent_p.Q409Q|RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.Q84Q Q8N163 K1967_HUMAN 409 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCGAGTTTCAGTACCTGCAGC 0.582000 30 132 0 0 0.012213 0 0 THSD7B 80731 broad.mit.edu 37 2 137814555 137814555 + Silent SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:137814555G>T ENST00000409968.1 + 3 883 c.705G>T c.(703-705)ggG>ggT p.G235G THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000543459.1_Silent_p.G94G|THSD7B_ENST00000272643.3_Silent_p.G235G thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCCTCTTGGGGAAGAGGAAT 0.463000 32 254 1.61788e-16 2.1426e-16 0.012213 1 0 SDHAP1 0 broad.mit.edu 37 3 195701278 195701278 + RNA SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr3:195701278C>T ENST00000427841.1 - 0 1546 NR_003264.2 CAGGCCTGCACGACTCTGCGA 0.537000 5 63 0 0 0.006214 0 0 ABHD8 79575 broad.mit.edu 37 19 17411726 17411726 + Missense_Mutation SNP T T C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr19:17411726T>C ENST00000247706.3 - 2 939 c.700A>G c.(700-702)Atg>Gtg p.M234V MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 234 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 ATTGCTCGCATGTCCTCAGCC 0.617000 13 143 0 0 0.002450 0 0 ZBTB11 27107 broad.mit.edu 37 3 101384241 101384241 + Nonsense_Mutation SNP G G C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr3:101384241G>C ENST00000312938.4 - 4 1770 c.1190C>G c.(1189-1191)tCa>tGa p.S397* NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCCTACTGATGACAGGGCAGA 0.438000 13 106 0 0 0.013537 0 0 MDN1 23195 broad.mit.edu 37 6 90426386 90426386 + Silent SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr6:90426386G>A ENST00000369393.3 - 44 6841 c.6726C>T c.(6724-6726)gaC>gaT p.D2242D MDN1_ENST00000428876.1_Silent_p.D2242D Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2242 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTTAACATTGTCCATCAGAA 0.463000 8 51 0 0 0.006214 0 0 CARF 79800 broad.mit.edu 37 2 203839140 203839140 + Missense_Mutation SNP T T C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:203839140T>C ENST00000320443.8 + 12 2458 c.1415T>C c.(1414-1416)aTa>aCa p.I472T CARF_ENST00000414439.1_Missense_Mutation_p.I370T|CARF_ENST00000402905.2_Missense_Mutation_p.I472T|CARF_ENST00000545262.1_Missense_Mutation_p.I396T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.I396T|CARF_ENST00000438828.2_Missense_Mutation_p.I472T|CARF_ENST00000545253.1_Missense_Mutation_p.I384T calcium responsive transcription factor GTAAATGATATAAAAAATCAC 0.328000 8 65 0 0 0.003080 0 0 ERN2 10595 broad.mit.edu 37 16 23716455 23716455 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr16:23716455C>T ENST00000256797.4 - 8 915 c.747G>A c.(745-747)ctG>ctA p.L249L ERN2_ENST00000457008.2_Silent_p.L201L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 201 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CGCAGGACGCCAGGTGGCTCA 0.637000 5 50 0 0 0.000602 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 72 0 0 0.003080 0 0 COL5A1 1289 broad.mit.edu 37 9 137657572 137657572 + Missense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr9:137657572G>A ENST00000371817.3 + 21 2494 c.2080G>A c.(2080-2082)Gga>Aga p.G694R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 694 Triple-helical region. PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence). axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGGTCCTCCCGGACCTCCCGT 0.637000 21 116 0 0 0.002780 0 0 NMUR2 56923 broad.mit.edu 37 5 151784352 151784352 + Missense_Mutation SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:151784352C>T ENST00000255262.3 - 1 488 c.323G>A c.(322-324)cGc>cAc p.R108H NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 108 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGGGTAGTTGCGCCACATCTC 0.587000 19 149 0 0 0.007413 0 0 PIPSL 0 broad.mit.edu 37 10 95719791 95719791 + RNA SNP C C A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr10:95719791C>A ENST00000480546.1 - 0 1506 NR_002319.2 TCAGGACAACCAAGGTGAACA 0.507000 6 24 2.7689e-08 3.57042e-08 0.001984 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 64 0 0 0.009096 0 0 CELSR2 1952 broad.mit.edu 37 1 109803688 109803688 + Missense_Mutation SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr1:109803688G>T ENST00000271332.3 + 3 4044 c.3983G>T c.(3982-3984)cGc>cTc p.R1328L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1328 EGF-like 3; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTGAGTGCTCGCTCAGGCCGT 0.597000 6 96 5.18039e-06 6.5087e-06 0.003080 1 0 RTEL1 51750 broad.mit.edu 37 20 62320908 62320908 + Silent SNP G G T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr20:62320908G>T ENST00000318100.4 + 23 2759 c.1932G>T c.(1930-1932)acG>acT p.T644T RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 644 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TGATTGTCACGGGCCTCCCGT 0.662000 3 49 0.004672 0.00558361 0.004672 1 0 CBX4 8535 broad.mit.edu 37 17 77809099 77809099 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr17:77809099C>T ENST00000269397.4 - 5 519 c.342G>A c.(340-342)aaG>aaA p.K114K CBX4_ENST00000448310.1_3'UTR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 114 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCCCTGGCCCTTCCCCTGCG 0.657000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 127 0 0 0.004990 0 0 ATIC 471 broad.mit.edu 37 2 216177305 216177305 + Missense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:216177305G>A ENST00000435675.1 + 1 492 c.101G>A c.(100-102)gGa>gAa p.G34E ATIC_ENST00000236959.9_Missense_Mutation_p.G35E|ATIC_ENST00000540518.1_5'UTR P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 35 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GTCGCTTCCGGAGGGACTGCA 0.473000 T ALK ALCL 20 84 0 0 0.008871 0 0 WIPI1 55062 broad.mit.edu 37 17 66425017 66425017 + Missense_Mutation SNP A A C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr17:66425017A>C ENST00000262139.5 - 10 1025 c.1026T>G c.(1024-1026)aaT>aaG p.N342K WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|WIPI1_ENST00000589459.1_5'UTR NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 342 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GAGGATCCAAATTGTACATAT 0.468000 4 56 0 0 0.000602 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135870798 135870798 + Missense_Mutation SNP T T G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr2:135870798T>G ENST00000264158.8 + 6 483 c.440T>G c.(439-441)cTt>cGt p.L147R RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 147 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AAGTGCAACCTTCTTCTGAGT 0.398000 16 111 0 0 0.004990 0 0 WDR17 116966 broad.mit.edu 37 4 177058761 177058761 + Splice_Site SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr4:177058761A>G ENST00000393643.2 + 9 1610 c.1359_splice c.e9+1 p.E453_splice WDR17_ENST00000507824.2_Splice_Site_p.E460_splice|WDR17_ENST00000508596.1_Splice_Site_p.E453_splice|WDR17_ENST00000280190.4_Splice_Site_p.E477_splice NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 477 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CGATTTAATGAGGTAAGATTT 0.249000 5 52 0 0 0.000602 0 0 PRPF19 27339 broad.mit.edu 37 11 60666069 60666069 + Nonsense_Mutation SNP C C A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr11:60666069C>A ENST00000227524.4 - 13 1289 c.1084G>T c.(1084-1086)Gga>Tga p.G362* NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 362 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 AAGATGAGTCCGTCAGGGTGG 0.562000 9 56 0.000274275 0.000335987 0.004482 1 0 ESF1 51575 broad.mit.edu 37 20 13763318 13763318 + Missense_Mutation SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr20:13763318C>T ENST00000202816.1 - 2 576 c.469G>A c.(469-471)Gat>Aat p.D157N NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 157 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TCTTTGCTATCCTTCTTCGGA 0.279000 5 34 0 0 0.001168 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048747 102048747 + Nonsense_Mutation SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr10:102048747G>A ENST00000318222.3 - 15 2699 c.2317C>T c.(2317-2319)Cag>Tag p.Q773* PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*|PKD2L1_ENST00000353274.3_Intron NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 773 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGCCCACCCTGGACTCCCCAG 0.602000 15 90 0 0 0.007413 0 0 EDNRA 1909 broad.mit.edu 37 4 148407185 148407185 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr4:148407185C>T ENST00000324300.5 + 2 867 c.352C>T c.(352-354)Ctg>Ttg p.L118L EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 118 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CCCCAACGCGCTGATAGCCAG 0.418000 15 86 0 0 0.002450 0 0 OR4P4 81300 broad.mit.edu 37 11 55406192 55406192 + Missense_Mutation SNP G G A rs143338269 byFrequency TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr11:55406192G>A ENST00000314612.2 + 1 359 c.359G>A c.(358-360)cGc>cAc p.R120H NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GCCTATGACCGCTATGTGGCC 0.403000 16 41 0 0 0.004007 0 0 ZNF675 171392 broad.mit.edu 37 19 23837046 23837046 + Missense_Mutation SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr19:23837046C>T ENST00000359788.4 - 4 857 c.689G>A c.(688-690)tGt>tAt p.C230Y ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 230 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACATTCTTGACATTTGTAGAG 0.308000 12 37 0 0 0.001855 0 0 TRIO 7204 broad.mit.edu 37 5 14504503 14504503 + Splice_Site SNP G G A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:14504503G>A ENST00000344204.4 + 55 8437 c.8411_splice c.e55-1 p.G2805_splice TRIO_ENST00000537187.1_Splice_Site_p.G2629_splice|TRIO_ENST00000344135.5_Splice_Site_p.G304_splice NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2805 Protein kinase. 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) ATTTTACAGGGGCAGATTCTC 0.502000 6 85 0 0 0.001984 0 0 SDHAP1 0 broad.mit.edu 37 3 195701304 195701304 + RNA SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr3:195701304C>T ENST00000427841.1 - 0 1520 NR_003264.2 AGGGCACATGCCTGACCAGAC 0.572000 10 74 0 0 0.013537 0 0 DNAH3 55567 broad.mit.edu 37 16 21109952 21109952 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr16:21109952C>T ENST00000261383.3 - 17 2504 c.2505G>A c.(2503-2505)gcG>gcA p.A835A DNAH3_ENST00000415178.1_Silent_p.A835A NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 835 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACTCTGCAAACGCCCGATTTA 0.403000 7 119 0 0 0.003080 0 0 TTC13 79573 broad.mit.edu 37 1 231069565 231069565 + Missense_Mutation SNP C C A TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr1:231069565C>A ENST00000366661.4 - 9 950 c.943G>T c.(943-945)Gac>Tac p.D315Y TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 315 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TCAATAAAGTCAACTTTCTGC 0.353000 9 98 0.00829132 0.0096732 0.008291 1 0 CCDC129 223075 broad.mit.edu 37 7 31617858 31617858 + Missense_Mutation SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr7:31617858A>G ENST00000409210.1 + 6 888 c.704A>G c.(703-705)tAt>tGt p.Y235C CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 327 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TTGCTACCTTATCCTCCTCAT 0.512000 9 75 0 0 0.006214 0 0 NUP50 10762 broad.mit.edu 37 22 45574602 45574602 + Missense_Mutation SNP A A G TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr22:45574602A>G ENST00000347635.3 + 5 1290 c.824A>G c.(823-825)aAg>aGg p.K275R NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 275 5 X 2 AA repeats of F-G.|Ser-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) AATTTCGGCAAGAAAGTTGAT 0.438000 3 20 0 0 0.001984 0 0 CHD7 55636 broad.mit.edu 37 8 61736614 61736614 + Nonstop_Mutation SNP G G C TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr8:61736614G>C ENST00000525508.1 + 12 3417 c.3417G>C c.(3415-3417)taG>taC p.*1139Y CHD7_ENST00000423902.2_Intron|CHD7_ENST00000524602.1_Intron Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 0 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AACCTGAATAGAATTGTTGCT 0.423000 6 81 0 0 0.001168 0 0 TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 8 582 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.S81R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCTCCTCCTCctgctgctgctgc 0.685 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72159821 72159821 + RNA DEL T T - TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx da75b98c-dc27-4169-b36b-136c6fbd2afe 9586dcd1-086c-4204-b6f8-2fd2965f1c22 g.chr7:72159821delT ENST00000438125.1 - 0 984 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TCCTTAGTAATTTTTTTTTTT 0.388 8 61 --- --- --- ---