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 GPR15 2838 broad.mit.edu 37 3 98251295 98251295 + Missense_Mutation SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr3:98251295G>A ENST00000284311.3 + 1 553 c.418G>A c.(418-420)Gta>Ata p.V140I NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 140 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) GTGGCCAGTCGTATCCAGGAA 0.522000 8 62 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134277174 134277174 + Missense_Mutation SNP A A T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr3:134277174A>T ENST00000337090.3 + 13 1831 c.1658A>T c.(1657-1659)aAg>aTg p.K553M CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000354446.3_Intron Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 553 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ACTGAGTTCAAGAATACAGAG 0.289000 9 36 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 6 5 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770050 112770050 + Missense_Mutation SNP G G A rs139028259 by1000genomes TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr5:112770050G>A ENST00000390666.3 - 1 678 c.487C>T c.(487-489)Cgg>Tgg p.R163W CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 163 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) CTGTCATCCCGCAGGCAGCGC 0.577000 4 65 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115813739 115813739 + Silent SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr5:115813739G>A ENST00000343348.6 - 14 2326 c.1539C>T c.(1537-1539)ggC>ggT p.G513G CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G45G|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.G513G|SEMA6A_ENST00000510263.1_Silent_p.G513G NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 513 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GTTCACACCGGCCAAGGGGAA 0.463000 4 158 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26426943 26426943 + Missense_Mutation SNP T T A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr2:26426943T>A ENST00000380649.3 - 12 1337 c.1208A>T c.(1207-1209)cAa>cTa p.Q403L NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 403 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TTTGAACACTTGTTGCTGTCC 0.483000 159 313 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 48 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649942 102649942 + Splice_Site SNP A A G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr11:102649942A>G ENST00000279441.4 - 3 533 c.e3+1 NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TTATTTGATTACCTTTAACTG 0.373000 5 109 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35504508 35504508 + Silent SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:35504508C>T ENST00000599564.1 + 10 1115 c.1044C>T c.(1042-1044)gaC>gaT p.D348D GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000317991.5_Silent_p.D261D|GRAMD1A_ENST00000504615.2_Silent_p.D27D Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 261 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GGGCAGCTGACCGCAGCCAGG 0.662000 26 24 0 0 1 0 0 PCDHAC1 0 broad.mit.edu 37 5 140306487 140306487 + Missense_Mutation SNP T T C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr5:140306487T>C ENST00000253807.2 + 1 10 c.10T>C c.(10-12)Tgt>Cgt p.C4R PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGGTGGGCTGTGGGGTGGC 0.647000 12 59 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50769066 50769066 + Silent SNP G G C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr15:50769066G>C ENST00000433963.1 + 10 1370 c.870G>C c.(868-870)ctG>ctC p.L290L USP8_ENST00000396444.3_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000307179.4_Silent_p.L290L NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 290 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) AAACTGTCCTGCGCAATGAGC 0.393000 29 67 0 0 1 0 0 PLK1 5347 broad.mit.edu 37 16 23695207 23695207 + Missense_Mutation SNP C C G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr16:23695207C>G ENST00000300093.4 + 5 944 c.833C>G c.(832-834)gCc>gGc p.A278G NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 278 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) AACCCCGTGGCCGCCTCCCTC 0.557000 53 494 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 13 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8976368 8976368 + Missense_Mutation SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr12:8976368G>A ENST00000299698.7 + 3 479 c.299G>A c.(298-300)gGa>gAa p.G100E A2ML1-AS1_ENST00000537288.1_RNA NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 0 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CGGGTGTCGGGAGTTGGAAAT 0.527000 75 121 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr4:952220A>C ENST00000264771.4 + 11 1636 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane p.H484P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 12 21 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131479035 131479035 + Missense_Mutation SNP C C G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr9:131479035C>G ENST00000291906.4 + 16 2211 c.1818C>G c.(1816-1818)tgC>tgG p.C606W PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 606 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GCCTGTACTGCGAGAAGCGGA 0.602000 16 150 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144835787 144835787 + Splice_Site SNP G G T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr6:144835787G>T ENST00000367545.3 + 36 5075 c.5073_splice c.e36-1 p.R1692_splice NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1692 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TATAATTAGCGTTTAGTATCT 0.388000 11 108 3.07112e-06 3.07112e-06 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191766 152191766 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr1:152191766C>T ENST00000368801.2 - 3 2414 c.2339G>A c.(2338-2340)cGa>cAa p.R780Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 780 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGACCCATGTCGGACACGGCT 0.602000 35 79 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 19 43 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668211 59668211 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr17:59668211C>T ENST00000521764.1 - 1 352 c.331G>A c.(331-333)Gtc>Atc p.V111I NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 111 NAC-A/B. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CTCTTGTAGACGTCCAGTTTT 0.443000 80 198 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339694 55339694 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr11:55339694C>T ENST00000314634.3 + 1 91 c.91C>T c.(91-93)Cgt>Tgt p.R31C NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TATTTTTTTGCGTCTCTACTT 0.373000 47 87 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44892085 44892085 + Missense_Mutation SNP T T A rs79240579 by1000genomes TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:44892085T>A ENST00000330997.4 - 4 386 c.322A>T c.(322-324)Agt>Tgt p.S108C ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CACTCTTCACTGAGGGAAACA 0.393000 4 84 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7679258 7679258 + Silent SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr10:7679258C>T ENST00000256861.6 - 5 663 c.585G>A c.(583-585)gcG>gcA p.A195A ITIH5_ENST00000397145.2_Silent_p.A195A|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 195 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGCGATGCCCGCGCTCTCCA 0.657000 61 120 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr3:178917478G>A ENST00000263967.3 + 3 510 c.352_splice c.e3-1 p.G118_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 32 38 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84784902 84784902 + Nonsense_Mutation SNP T T G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr2:84784902T>G ENST00000389394.3 + 11 1783 c.1646T>G c.(1645-1647)tTa>tGa p.L549* DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*|DNAH6_ENST00000237449.6_Nonsense_Mutation_p.L549* NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 549 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 AACACTGTGTTATCAGTTCCT 0.343000 42 97 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7526163 7526163 + Silent SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr12:7526163G>A ENST00000313599.3 - 14 3540 c.3483C>T c.(3481-3483)aaC>aaT p.N1161N CD163L1_ENST00000416109.2_Silent_p.N1171N|CD163L1_ENST00000396630.1_Silent_p.N1161N Q9NR16 C163B_HUMAN CD163 molecule-like 1 1161 SRCR 11. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCAGGTCCCGTTATAGAAGA 0.512000 9 301 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791828 42791828 + Nonsense_Mutation SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:42791828G>A ENST00000572681.2 + 6 3509 c.3441G>A c.(3439-3441)tgG>tgA p.W1147* CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W238* Q96RK0 CIC_HUMAN capicua transcriptional repressor 238 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCGAGTGGTGGTATGCCCTGG 0.617000 """Mis, F, S""" oligodendroglioma 32 47 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24858319 24858319 + Missense_Mutation SNP C C G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr13:24858319C>G ENST00000424834.2 + 7 2684 c.2211C>G c.(2209-2211)aaC>aaG p.N737K SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000382095.4_Missense_Mutation_p.N112K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K|SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K Q96N96 SPT13_HUMAN spermatogenesis associated 13 112 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGATGACAACGgtagtgagg 0.493000 19 12 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr1:155161799T>G ENST00000368395.1 - 2 405 c.334A>C c.(334-336)Acc>Ccc p.T112P MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 892 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711000 T IGH@ B-NHL 11 25 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42796879 42796879 + Nonsense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:42796879C>T ENST00000572681.2 + 15 6129 c.6061C>T c.(6061-6063)Cag>Tag p.Q2021* CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q1113* Q96RK0 CIC_HUMAN capicua transcriptional repressor 1113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCAGCCATCCCAGGCCCCCCC 0.682000 """Mis, F, S""" oligodendroglioma 6 79 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79842082 79842082 + Missense_Mutation SNP G G C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr7:79842082G>C ENST00000351004.3 + 7 1144 c.771G>C c.(769-771)aaG>aaC p.K257N GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 257 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 GTAACAACAAGTGGTTTACAG 0.323000 4 79 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 38 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301821 222301821 + Missense_Mutation SNP G G T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr2:222301821G>T ENST00000281821.2 - 12 2137 c.2096C>A c.(2095-2097)aCa>aAa p.T699K EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 699 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CATGTACTCTGTTATGATCAT 0.378000 33 53 3.86903e-22 4.00972e-22 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247588165 247588165 + Missense_Mutation SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr1:247588165G>A ENST00000366497.2 + 4 2200 c.1420G>A c.(1420-1422)Gca>Aca p.A474T NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A474T|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 474 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTCTTTGGCTGCAGATGGAAT 0.582000 11 29 0 0 1 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271605 26271605 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr6:26271605C>T ENST00000305910.3 - 1 7 c.8G>A c.(7-9)cGc>cAc p.R3H NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 3 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTGCTTGGTGCGGGCCATCTC 0.562000 4 63 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111229622 111229622 + Missense_Mutation SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr11:111229622G>A ENST00000393067.3 - 2 552 c.38C>T c.(37-39)cCa>cTa p.P13L NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 13 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) GGCCGGGGCTGGGGCTTGCTC 0.632000 T BCL6 NHL 18 28 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56084931 56084931 + Missense_Mutation SNP A A C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr7:56084931A>C ENST00000395471.3 - 6 1222 c.417T>G c.(415-417)ttT>ttG p.F139L PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.F139L P78330 SERB_HUMAN phosphoserine phosphatase 139 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCTTACCGTTAAAGTAGAATT 0.383000 38 31 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261318 49261318 + Silent SNP A A C TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:49261318A>C ENST00000593756.1 + 4 1043 c.471A>C c.(469-471)gcA>gcC p.A157A FGF21_ENST00000222157.3_Silent_p.A157A Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 157 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GGGACCCTGCACCCCGAGGAC 0.682000 12 42 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85843529 85843529 + Missense_Mutation SNP C C T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr2:85843529C>T ENST00000323701.6 + 1 221 c.211C>T c.(211-213)Cgg>Tgg p.R71W USP39_ENST00000409766.3_Missense_Mutation_p.R71W|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 71 Arg-rich. spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCCGTTTGTGCGGGTGAAGCG 0.726000 3 29 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12883803 12883803 + Missense_Mutation SNP A A G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr11:12883803A>G ENST00000361905.4 + 4 829 c.164A>G c.(163-165)aAt>aGt p.N55S TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S|TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000527575.1_Missense_Mutation_p.N70S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 70 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) TCAGGTAGGAATGAATTGATA 0.403000 5 54 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 3 10 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 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 4 116 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177936856 177936856 + Silent SNP G G A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr1:177936856G>A ENST00000308284.6 - 2 350 c.261C>T c.(259-261)gaC>gaT p.D87D SEC16B_ENST00000464631.1_Silent_p.D87D|RP4-798P15.3_ENST00000528461.1_Silent_p.D87D|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 87 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CTTCGTAATAGTCAACTCCAG 0.517000 7 64 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 7 938 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 11 237 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139412283 139412285 + In_Frame_Del DEL GTT GTT - TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr9:139412283_139412285delGTT ENST00000277541.6 - 8 1435_1437 c.1360_1362delAAC c.(1360-1362)del p.N454del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 454 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.N454delN(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGACGCACTCGTTGACGTCGATC 0.660 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 113 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 5 10 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81155068 81155069 + RNA INS - - A TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr16:81155068_81155069insA ENST00000533478.1 - 0 4667 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 gactccatctcaaaaaaaaaaa 0.525 2 4 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29086616 29086616 + RNA DEL A A - TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr17:29086616delA ENST00000582557.1 + 0 1064 TTGTGAATGTAAAAAAAAAGT 0.299 2 4 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009551 1009577 + In_Frame_Del DEL GCCCCCGCGGAGGCCCCACCACACTCT GCCCCCGCGGAGGCCCCACCACACTCT - rs58448123 TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT ENST00000234389.3 + 9 3101_3127 c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT c.(3082-3108)del p.APAEAPPHS1028del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 1028 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG 0.692 4 3 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795615 42795615 + Frame_Shift_Del DEL A A - TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr19:42795615delA ENST00000572681.2 + 11 5490 c.5422delA c.(5422-5424)aafs p.K1808fs CIC_ENST00000575354.2_Frame_Shift_Del_p.K899fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 899 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCCACCCCCCAAAGGTGAGAC 0.617 """Mis, F, S""" oligodendroglioma 18 120 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17072572 17072576 + Frame_Shift_Del DEL ATTCC ATTCC - TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chr22:17072572_17072576delATTCC ENST00000359963.3 - 1 1124_1128 c.865_869delGGAAT c.(865-870)tfs p.GI289fs NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 289 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGCCACATTAATTCCTGCAGCTGCT 0.507 16 278 --- --- --- --- ZFX 7543 broad.mit.edu 37 X 24229107 24229109 + In_Frame_Del DEL AAG AAG - TCGA-P5-A5F0-01A-11D-A289-08 TCGA-P5-A5F0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4 a5d89ce8-081f-4b72-993d-47b28b7bf6e3 g.chrX:24229107_24229109delAAG ENST00000379177.1 + 11 2459_2461 c.2032_2034delAAG c.(2032-2034)del p.K679del ZFX_ENST00000304543.5_In_Frame_Del_p.K679del|ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TTCAGAACTCAAGAAACACGTGG 0.424 15 52 --- --- --- ---