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 PKP4 8502 broad.mit.edu 37 2 159481720 159481720 + Missense_Mutation SNP G G T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr2:159481720G>T ENST00000389757.3 + 7 1059 c.934G>T c.(934-936)Gtg>Ttg p.V312L PKP4_ENST00000389759.3_Missense_Mutation_p.V312L NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 312 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CACCGCCAGAGTGGGGTCCCC 0.632000 HNSCC(62;0.18) 12 22 0.010729 0.010729 1 1 0 WNT11 7481 broad.mit.edu 37 11 75907721 75907721 + Missense_Mutation SNP G G A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr11:75907721G>A ENST00000322563.3 - 2 249 c.125C>T c.(124-126)aCg>aTg p.T42M NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 42 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 GCAGTGTTGCGTCTGGTTCAG 0.637000 5 14 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49039494 49039494 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr13:49039494C>T ENST00000267163.4 + 23 2617 c.2479C>T c.(2479-2481)Cca>Tca p.P827S NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 827 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAAAATGACTCCAAGATCAAG 0.368000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 24 34 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16908636 16908636 + Missense_Mutation SNP C C T rs140641936 byFrequency TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr19:16908636C>T ENST00000524140.2 + 16 3816 c.3398C>T c.(3397-3399)aCg>aTg p.T1133M NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1133 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 ATGGTGGAGACGGCTGTTTTT 0.542000 102 162 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812763 2812763 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr16:2812763C>T ENST00000301740.8 + 11 2783 c.2234C>T c.(2233-2235)tCa>tTa p.S745L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 745 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGGTCCAATTCAAGCCCAGAA 0.468000 15 81 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454817 84454817 + Missense_Mutation SNP C C A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr13:84454817C>A ENST00000377084.2 - 1 1711 c.826G>T c.(826-828)Gcc>Tcc p.A276S NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 276 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCTTCTTGGGCAGGGGGCGCC 0.552000 20 44 1.01871e-10 1.15638e-10 1 1 0 TSPAN10 83882 broad.mit.edu 37 17 79609410 79609410 + RNA SNP G G T rs7406219 by1000genomes TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr17:79609410G>T ENST00000328585.4 + 0 62 NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CGGCGCCTGTGCTGGGGGCTT 0.657000 4 64 0.00909568 0.00931753 1 1 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 5 19 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 95 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179629473 179629473 + Missense_Mutation SNP G G A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr2:179629473G>A ENST00000589042.1 - 42 9993 c.9769C>T c.(9769-9771)Cgc>Tgc p.R3257C TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C|TTN_ENST00000591111.1_Missense_Mutation_p.R3257C|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2987 Ig-like 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACAGAAGCGGGCAGGCTTG 0.507000 22 63 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11624902 11624902 + Silent SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr19:11624902C>T ENST00000270517.7 - 3 366 c.231G>A c.(229-231)ggG>ggA p.G77G ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000252440.7_Silent_p.G77G NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 77 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CAGGCGCCTGCCCAAACAGGT 0.632000 19 22 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 31 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380836 28380836 + Missense_Mutation SNP T T C TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr17:28380836T>C ENST00000394835.3 + 10 2056 c.1864T>C c.(1864-1866)Tca>Cca p.S622P EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 622 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ACACAAAGGGTCAGTAGCAGA 0.463000 38 132 0 0 1 0 0 KCTD2 23510 broad.mit.edu 37 17 73055633 73055633 + Missense_Mutation SNP T T A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr17:73055633T>A ENST00000322444.6 + 4 575 c.569T>A c.(568-570)cTg>cAg p.L190Q KCTD2_ENST00000581589.1_5'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 190 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) TACAGAGTCCTGCAGTGTCAG 0.567000 17 19 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45601543 45601543 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr22:45601543C>T ENST00000336156.4 - 4 447 c.382G>A c.(382-384)Ggg>Agg p.G128R KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 128 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGAATGTCCCCGCCGTCAGCA 0.617000 9 12 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 35 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120790278 120790278 + Missense_Mutation SNP T T C TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr8:120790278T>C ENST00000378164.2 - 18 2643 c.2345A>G c.(2344-2346)aAt>aGt p.N782S NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 782 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCTGTTGTCATTGTACTTGAT 0.289000 5 6 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19463805 19463805 + Splice_Site SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr17:19463805C>T ENST00000270570.4 + 12 1191 c.1106_splice c.e12+1 p.R369_splice SLC47A1_ENST00000457293.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000395585.1_Splice_Site_p.R369_splice|SLC47A1_ENST00000436810.2_Splice_Site_p.R346_splice|SLC47A1_ENST00000571335.1_Splice_Site_p.R174_splice|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 369 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TACTACCGACCGGTGAGTGCT 0.403000 16 61 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120611492 120611492 + Missense_Mutation SNP T T A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr12:120611492T>A ENST00000300648.6 - 14 1343 c.1331A>T c.(1330-1332)cAt>cTt p.H444L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 444 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGTAGGCATGCCTCACCGC 0.502000 6 52 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801601 133801601 + Nonsense_Mutation SNP G G T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr11:133801601G>T ENST00000321016.8 - 9 1430 c.1200C>A c.(1198-1200)taC>taA p.Y400* IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400* Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 400 Ig-like 4. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAGAGTGTTGTAAGGCACAC 0.602000 5 10 0.000602214 0.000648539 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 3 13 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466014 10466014 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr8:10466014C>T ENST00000382483.3 - 4 5817 c.5594G>A c.(5593-5595)gGg>gAg p.G1865E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1865 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGGGCCTCCCCTTCAGCCTC 0.632000 49 167 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973908 128973908 + Missense_Mutation SNP G G A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr10:128973908G>A ENST00000522781.1 - 4 1307 c.752C>T c.(751-753)aCg>aTg p.T251M DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 251 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGCAACCTCCGTTTTAAACAC 0.657000 6 16 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73560398 73560398 + Silent SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr10:73560398C>T ENST00000224721.6 + 52 7388 c.7383C>T c.(7381-7383)gaC>gaT p.D2461D CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2456 Cadherin 23. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ACTAGGGTGACATCTATGTGC 0.507000 8 8 0 0 1 0 0 SDAD1P1 0 broad.mit.edu 37 8 26238955 26238955 + RNA SNP G G A TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr8:26238955G>A ENST00000519902.1 - 0 993 CTCCTAGATGGAGGGTGGTGG 0.463000 8 14 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr21:11058168A>T ENST00000470054.1 - 0 479 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) TACATCTTTCAGGAGCTTGGT 0.388000 4 80 0 0 1 0 0 PRND 23627 broad.mit.edu 37 20 4705313 4705313 + Missense_Mutation SNP C C T TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr20:4705313C>T ENST00000305817.2 + 2 187 c.116C>T c.(115-117)gCc>gTc p.A39V NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) 39 Flexible tail. protein homooligomerization anchored to membrane|plasma membrane breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 AACCGGAAGGCCCTGCCCAGC 0.622000 4 51 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46390678 46390678 + Frame_Shift_Del DEL C C - rs41301819 TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr4:46390678delC ENST00000507460.1 - 2 378 c.46delG c.(46-48)ttfs p.V16fs GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000510861.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.V16fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.V16fs P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 16 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) ACCAAGAAAACAAAAAGCAGG 0.368 18 52 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521769 32521771 + RNA DEL ATT ATT - rs77824792 by1000genomes TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr6:32521769_32521771delATT ENST00000411500.1 - 0 740 NR_001298.1 AGGTTTAGTGATTTTTATTCCAA 0.429 7 2 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292110 114292112 + In_Frame_Del DEL CTG CTG - TCGA-EL-A4KI-01A-11D-A257-08 TCGA-EL-A4KI-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f7954cc-eff5-418c-836d-3ce654555af8 e1a95488-c7bd-4a5c-b9b7-67580e5c4108 g.chr6:114292110_114292112delCTG ENST00000398283.2 - 1 247_249 c.243_245delCAG c.(241-246)agg>ag p.SR81del HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|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 --- --- --- ---