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 SERPINA6 866 broad.mit.edu 37 14 94776285 94776285 + Silent SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr14:94776285G>A ENST00000341584.3 - 3 818 c.672C>T c.(670-672)gaC>gaT p.D224D NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 224 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGTTGTCTCGTCCACATAGA 0.547000 13 37 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145580946 145580946 + Missense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr4:145580946G>A ENST00000296575.3 + 4 1442 c.787G>A c.(787-789)Gag>Aag p.E263K HHIP_ENST00000434550.2_Missense_Mutation_p.E263K|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 263 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AATTTTCAAGGAGCCTTATTT 0.373000 6 112 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106456601 106456601 + Missense_Mutation SNP A A C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr8:106456601A>C ENST00000407775.2 + 3 543 c.293A>C c.(292-294)gAt>gCt p.D98A ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 98 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GACGACTGGGATGGACCAGGT 0.423000 3 12 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71779049 71779049 + Missense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:71779049G>A ENST00000299980.4 - 19 2438 c.1997C>T c.(1996-1998)aCa>aTa p.T666I AP1G1_ENST00000569748.1_Missense_Mutation_p.T666I|AP1G1_ENST00000564155.1_Missense_Mutation_p.T91I|AP1G1_ENST00000433195.2_Missense_Mutation_p.T689I|AP1G1_ENST00000423132.2_Missense_Mutation_p.T669I|AP1G1_ENST00000393512.3_Missense_Mutation_p.T669I NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 666 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TGCCTCACCTGTAAGGTTGAT 0.448000 8 88 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43545071 43545071 + Missense_Mutation SNP C C T rs113766373 TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr15:43545071C>T ENST00000220420.5 - 6 755 c.748G>A c.(748-750)Gcc>Acc p.A250T TGM5_ENST00000349114.4_Missense_Mutation_p.A168T NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 250 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCAGGGTTGGCGCCGTCTGTG 0.547000 5 84 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119998053 119998053 + Missense_Mutation SNP C C A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:119998053C>A ENST00000341846.5 - 3 1546 c.1125G>T c.(1123-1125)ttG>ttT p.L375F TRIM29_ENST00000529044.1_Missense_Mutation_p.L114F|TRIM29_ENST00000541857.1_Missense_Mutation_p.L108F NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 375 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CCTGCAGAAACAACACAGAGT 0.522000 7 41 0.27861 0.27861 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151962178 151962178 + Missense_Mutation SNP G G T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:151962178G>T ENST00000355193.2 - 8 1347 c.1129C>A c.(1129-1131)Cca>Aca p.P377T KMT2C_ENST00000262189.6_Missense_Mutation_p.P377T lysine (K)-specific methyltransferase 2C CGTTTTAATGGAGTAACCGCT 0.453000 28 528 6.02846e-25 6.72944e-25 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70902478 70902478 + Nonsense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:70902478G>A ENST00000393567.2 - 66 11455 c.11305C>T c.(11305-11307)Cga>Tga p.R3769* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3769 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTTACTTTTCGTTTTGTAGTG 0.507000 8 21 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887497 60887497 + Missense_Mutation SNP T T G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr20:60887497T>G ENST00000252999.3 - 68 9385 c.9319A>C c.(9319-9321)Aac>Cac p.N3107H NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3107 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGTCGTGTTCAGCCGCTTG 0.692000 4 9 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925128 54925128 + Missense_Mutation SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr12:54925128T>C ENST00000293373.6 + 23 2670 c.2591T>C c.(2590-2592)aTt>aCt p.I864T NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I814T NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 864 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACCTCTCAGATTGTGGAGCTG 0.502000 4 217 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470174 10470174 + Silent SNP G G A rs138367868 by1000genomes TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr8:10470174G>A ENST00000382483.3 - 4 1657 c.1434C>T c.(1432-1434)gaC>gaT p.D478D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 478 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) TGTCCACCCCGTCCTCCGGGG 0.697000 3 40 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037029 75037029 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:75037029C>T ENST00000326665.5 - 14 4583 c.4365G>A c.(4363-4365)caG>caA p.Q1455Q C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1455 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGGCTGCCTCCTGGCCCTCTG 0.592000 8 72 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 5 108 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143879 142143879 + RNA SNP A A T rs149184848 by1000genomes TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:142143879A>T ENST00000390373.2 - 0 116 CACACAGCAGAGTCATGCTCT 0.507000 5 123 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237923150 237923150 + Silent SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:237923150T>C ENST00000366574.2 + 83 11717 c.11400T>C c.(11398-11400)tgT>tgC p.C3800C RYR2_ENST00000542537.1_Silent_p.C3784C|RYR2_ENST00000360064.6_Silent_p.C3806C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3800 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCAGTCATGTAGGTAAGGAC 0.433000 14 29 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24035556 24035556 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr14:24035556C>T ENST00000308724.5 - 3 1157 c.402G>A c.(400-402)gaG>gaA p.E134E AP1G2_ENST00000397120.3_Silent_p.E134E|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 134 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CTCGGCACATCTCAGCAGAGC 0.617000 21 44 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65789325 65789325 + Silent SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:65789325G>A ENST00000312106.5 - 3 1592 c.1455C>T c.(1453-1455)tcC>tcT p.S485S NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 485 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGAAGAATATGGAGTCCAAGG 0.562000 22 50 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:109369904T>C ENST00000370001.3 - 11 2127 c.1859A>G c.(1858-1860)aAg>aGg p.K620R AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413000 4 205 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349723 150349723 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chrX:150349723C>T ENST00000218316.3 + 2 1737 c.1668C>T c.(1666-1668)gaC>gaT p.D556D NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 556 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGTCTGACGACAGTGACC 0.642000 42 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069614 9069614 + Silent SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr19:9069614G>A ENST00000397910.4 - 3 18035 c.17832C>T c.(17830-17832)tcC>tcT p.S5944S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5946 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATACTGCGGAATAAAGAG 0.512000 7 66 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114274943 114274943 + Silent SNP A A G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr4:114274943A>G ENST00000357077.4 + 38 5222 c.5169A>G c.(5167-5169)gcA>gcG p.A1723A ANK2_ENST00000264366.6_Silent_p.A1690A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1690 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGCTAGTGCAGAGAAAGCTG 0.423000 13 209 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87369182 87369182 + Silent SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:87369182T>C ENST00000338056.3 + 6 996 c.585T>C c.(583-585)aaT>aaC p.N195N RUNDC3B_ENST00000493037.1_Silent_p.N178N|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Silent_p.N178N NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 195 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TAGGACTCAATGCTATTGATT 0.308000 4 43 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868688 57868688 + Missense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr12:57868688G>A ENST00000393797.2 - 16 2083 c.1891C>T c.(1891-1893)Cgg>Tgg p.R631W ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 560 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) ATGCAGAGCCGCAAAAAGCTG 0.547000 3 47 0 0 1 0 0 RASD1 51655 broad.mit.edu 37 17 17398953 17398953 + Missense_Mutation SNP A A G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:17398953A>G ENST00000225688.3 - 2 543 c.332T>C c.(331-333)tTc>tCc p.F111S RASD1_ENST00000579152.1_Intron NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 111 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 CACCTCCTCGAAGGAGTCGCG 0.592000 3 28 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 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 4 39 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049505 11049505 + RNA SNP G G T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr21:11049505G>T ENST00000470054.1 - 0 603 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) CGTTTTAATGGAGTAACCGCT 0.458000 7 205 7.03913e-09 7.5084e-09 1 1 0 MICAL2 9645 broad.mit.edu 37 11 12265584 12265584 + Silent SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:12265584C>G ENST00000256194.4 + 21 2997 c.2709C>G c.(2707-2709)ccC>ccG p.P903P MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Silent_p.P903P NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 903 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CATCTCCTCCCTCTCGCCTTC 0.463000 5 158 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 5 107 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210637880 210637880 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:210637880C>T ENST00000367010.1 + 8 1115 c.888C>T c.(886-888)ttC>ttT p.F296F HHAT_ENST00000308852.6_Silent_p.F251F|HHAT_ENST00000391905.3_Silent_p.F296F|HHAT_ENST00000413764.2_Silent_p.F296F|HHAT_ENST00000545781.1_Silent_p.F233F|HHAT_ENST00000545154.1_Silent_p.F297F|HHAT_ENST00000537898.1_Silent_p.F231F|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Silent_p.F159F|HHAT_ENST00000261458.3_Silent_p.F296F NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 296 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGCTCTTTTTCTACGTGAAGT 0.562000 33 148 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913340 6913340 + Missense_Mutation SNP C C T rs143950338 TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:6913340C>T ENST00000299459.2 - 1 490 c.392G>A c.(391-393)cGt>cAt p.R131H NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R131H(1) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTTAGGGTAACGCAGAGGATT 0.498000 11 93 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310507 57310507 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:57310507C>T ENST00000457912.1 + 2 446 c.446C>T c.(445-447)aCg>aTg p.T149M SMTNL1_ENST00000527972.1_Missense_Mutation_p.T131M|SMTNL1_ENST00000399154.2_Missense_Mutation_p.T131M E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 131 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AAGGAGAGCACGCTGGCCTCT 0.522000 3 5 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350830 146350830 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr6:146350830C>T ENST00000392299.2 + 2 647 c.177C>T c.(175-177)gcC>gcT p.A59A GRM1_ENST00000361719.2_Silent_p.A59A|GRM1_ENST00000492807.2_Silent_p.A59A|GRM1_ENST00000507907.1_Silent_p.A59A|GRM1_ENST00000282753.1_Silent_p.A59A|GRM1_ENST00000355289.4_Silent_p.A59A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 59 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGCCTCCGGCCGAGAAAGTGC 0.587000 5 65 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40708548 40708548 + Missense_Mutation SNP T T G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr22:40708548T>G ENST00000454349.2 + 18 4686 c.4475T>G c.(4474-4476)aTt>aGt p.I1492S TNRC6B_ENST00000402203.1_Missense_Mutation_p.I688S|TNRC6B_ENST00000335727.8_Missense_Mutation_p.I1382S|TNRC6B_ENST00000301923.9_Missense_Mutation_p.I688S NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1492 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ATCCAAAACATTGACCCTGAA 0.448000 5 93 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 3 9 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67938486 67938486 + Nonsense_Mutation SNP C C A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:67938486C>A ENST00000304363.4 - 9 1326 c.973G>T c.(973-975)Gaa>Taa p.E325* SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.E325*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.E302* NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CCTTACCTTTCGCAAGTGTAA 0.343000 14 43 1.5739e-10 1.71698e-10 1 1 0 ATP6V1C2 245973 broad.mit.edu 37 2 10922433 10922433 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr2:10922433C>T ENST00000381661.3 + 12 1097 c.988C>T c.(988-990)Cgt>Tgt p.R330C ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R376C NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 376 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) ATCCACCAAGCGTTTAAGAGA 0.453000 15 60 0 0 1 0 0 FAF1 11124 broad.mit.edu 37 1 51048295 51048295 + Nonsense_Mutation SNP G G A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:51048295G>A ENST00000396153.2 - 12 1559 c.1108C>T c.(1108-1110)Cga>Tga p.R370* FAF1_ENST00000545823.1_Nonsense_Mutation_p.R128*|FAF1_ENST00000371778.4_Nonsense_Mutation_p.R370*|FAF1_ENST00000472808.1_5'UTR NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 370 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.R370R(1)|p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CTTACATCTCGGGCTTTCACA 0.373000 4 78 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46627825 46627825 + Silent SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:46627825C>T ENST00000470495.1 - 2 2614 c.1167G>A c.(1165-1167)gcG>gcA p.A389A HOXB3_ENST00000490677.1_Silent_p.A255A|HOXB3_ENST00000489475.1_Silent_p.A316A|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.A389A|HOXB3_ENST00000485909.2_Silent_p.A257A|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.A389A|HOXB3_ENST00000476342.1_Silent_p.A389A|HOXB3_ENST00000472863.1_Silent_p.A316A|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.A257A P14651 HXB3_HUMAN homeobox B3 389 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 CCATAGGGGGCGCCCCGTTGT 0.682000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 45 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103870919 103870919 + Silent SNP G G A rs79967634 byFrequency TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:103870919G>A ENST00000302251.5 - 2 622 c.171C>T c.(169-171)taC>taT p.Y57Y PDGFD_ENST00000393158.2_Silent_p.Y63Y NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 63 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GACTCTGCACGTAGCCGTTTC 0.478000 6 98 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70693984 70693984 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:70693984C>T ENST00000429149.2 + 7 1178 c.623C>T c.(622-624)gCg>gTg p.A208V IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 208 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding p.A208V(1) breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TTGCAGTATGCGGCCACCCAG 0.647000 4 187 0 0 1 0 0 C17orf76-AS1 0 broad.mit.edu 37 17 16344431 16344431 + RNA SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:16344431C>G ENST00000475953.1 + 0 527 C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA NR_027667.1 AGCAGCATCTCAGCCCAAGAG 0.473000 29 79 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 34 0 0 1 0 0 MTFR1 9650 broad.mit.edu 37 8 66619384 66619384 + Silent SNP C C A TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr8:66619384C>A ENST00000262146.4 + 6 783 c.657C>A c.(655-657)gcC>gcA p.A219A MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A186A NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 219 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) AGAAAAGAGCCAATGCTGGAA 0.473000 4 73 0.150653 0.153859 1 1 0 HHAT 55733 broad.mit.edu 37 1 210637915 210637915 + Missense_Mutation SNP C C T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr1:210637915C>T ENST00000367010.1 + 8 1150 c.923C>T c.(922-924)gCt>gTt p.A308V HHAT_ENST00000308852.6_Missense_Mutation_p.A263V|HHAT_ENST00000391905.3_Missense_Mutation_p.A308V|HHAT_ENST00000413764.2_Missense_Mutation_p.A308V|HHAT_ENST00000545781.1_Missense_Mutation_p.A245V|HHAT_ENST00000545154.1_Missense_Mutation_p.A309V|HHAT_ENST00000537898.1_Missense_Mutation_p.A243V|HHAT_ENST00000367009.1_5'UTR|HHAT_ENST00000541565.1_Missense_Mutation_p.A171V|HHAT_ENST00000261458.3_Missense_Mutation_p.A308V NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 308 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GGCGTGCCTGCTCTGCTCATG 0.577000 24 121 0 0 1 0 0 DCAF10 79269 broad.mit.edu 37 9 37801316 37801316 + Silent SNP C C G TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr9:37801316C>G ENST00000242323.7 + 1 527 c.453C>G c.(451-453)ctC>ctG p.L151L RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Silent_p.L151L Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 151 CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 TGACTAGCCTCTACGGTTCCA 0.682000 4 9 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475009 217475010 + RNA DEL TG TG - TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr2:217475009_217475010delTG ENST00000441803.1 + 0 195 tttttttttttGAAAGAAAGGC 0.391 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369720 100369721 + RNA INS - - T TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr7:100369720_100369721insT ENST00000542585.1 + 0 5573 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) cctctaaattcttttttttttt 0.535 4 3 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321758 66321761 + RNA DEL TACC TACC - rs147846428 TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:66321758_66321761delTACC ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 ctacaaaaaataccaaaaaaaaaa 0.500 2 4 --- --- --- --- TMPRSS5 80975 broad.mit.edu 37 11 113560621 113560621 + Frame_Shift_Del DEL G G - TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr11:113560621delG ENST00000299882.5 - 12 1373 c.1225delC c.(1225-1227)tafs p.L409fs TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.L340fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.L296fs|TMPRSS5_ENST00000540540.1_Frame_Shift_Del_p.L150fs|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.L400fs|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.L365fs|TMPRSS5_ENST00000536856.1_Intron NM_030770.2 NP_110397.2 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 409 Peptidase S1. proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) GGGCACACTAGGGGGCCCCCG 0.607 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 2 4 --- --- --- --- LONRF3 79836 broad.mit.edu 37 X 118109397 118109399 + In_Frame_Del DEL GCC GCC - TCGA-VN-A88L-01A-11D-A34U-08 TCGA-VN-A88L-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ee4cc9c-82a2-4d65-9b90-7263e4dc6164 46d69be0-f87a-48cd-8096-675fec8dea31 g.chrX:118109397_118109399delGCC ENST00000365713.2 + 1 817_819 c.654_656delGCC c.(652-657)cag>ca p.QP218del LONRF3_ENST00000371628.3_In_Frame_Del_p.QP218del|LONRF3_ENST00000304778.7_In_Frame_Del_p.QP218del Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 218 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 CTGGGCAGCAGCCGCCGCCGCCG 0.744 3 5 --- --- --- ---