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 PADI4 23569 broad.mit.edu 37 1 17690079 17690079 + Silent SNP C C T rs143565531 TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr1:17690079C>T ENST00000375448.4 + 16 1847 c.1821C>T c.(1819-1821)aaC>aaT p.N607N NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 607 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCGTCATCAACGGCCGCTGCT 0.612 16 20 --- --- --- --- HTR1D 3352 broad.mit.edu 37 1 23520453 23520453 + Missense_Mutation SNP A A G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr1:23520453A>G ENST00000374619.1 - 1 769 c.260T>C c.(259-261)gTt>gCt p.V87A HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 87 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CAAGATGGAAACCAAGAGGTC 0.532 45 145 --- --- --- --- NCK2 8440 broad.mit.edu 37 2 106497794 106497794 + Silent SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr2:106497794G>A ENST00000233154.4 + 4 679 c.237G>A c.(235-237)aaG>aaA p.K79K NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K|NCK2_ENST00000451463.2_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 79 axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GCCTCGGCAAGACGCGCAGGA 0.672 10 28 --- --- --- --- MFN1 55669 broad.mit.edu 37 3 179085842 179085842 + Missense_Mutation SNP G G T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr3:179085842G>T ENST00000471841.1 + 9 1052 c.926G>T c.(925-927)gGa>gTa p.G309V MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V NM_033540.2 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 309 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTTGCTGAAGGATTTCATGCA 0.333 3 51 --- --- --- --- SHROOM3 57619 broad.mit.edu 37 4 77677870 77677870 + Nonsense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:77677870C>T ENST00000296043.6 + 8 5931 c.4978C>T c.(4978-4980)Cag>Tag p.Q1660* NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1660 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TCCTGATCCTCAGAAGAGTTC 0.488 5 64 --- --- --- --- ETNPPL 64850 broad.mit.edu 37 4 109675832 109675832 + Missense_Mutation SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:109675832T>A ENST00000296486.3 - 5 599 c.445A>T c.(445-447)Att>Ttt p.I149F ETNPPL_ENST00000510706.1_Missense_Mutation_p.I109F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.I91F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.I143F NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase TATGGGCTAATCTCAATTAAG 0.313 19 40 --- --- --- --- HLA-G 3135 broad.mit.edu 37 6 29797242 29797242 + Missense_Mutation SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:29797242G>A ENST00000428701.1 + 5 845 c.667G>A c.(667-669)Gcc>Acc p.A223T HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 223 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TGACTATGAGGCCACCCTGAG 0.582 9 192 --- --- --- --- CDK19 23097 broad.mit.edu 37 6 110944514 110944514 + Silent SNP A A T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr6:110944514A>T ENST00000368911.3 - 9 1091 c.912T>A c.(910-912)ccT>ccA p.P304P CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 304 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 CTTTGCTGTCAGGCTTGACCT 0.458 3 123 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72683335 72683335 + RNA SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr7:72683335C>T ENST00000425256.1 - 0 188 TGCACTACCACAGCCGACTGG 0.498 46 101 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12133636 12133636 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr10:12133636C>T ENST00000263035.4 + 6 1174 c.1112C>T c.(1111-1113)aCc>aTc p.T371I DHTKD1_ENST00000465617.1_Intron NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 371 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CTGGGTTACACCACTCCAGCT 0.448 5 91 --- --- --- --- FAM53B 9679 broad.mit.edu 37 10 126370270 126370270 + Missense_Mutation SNP C C G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr10:126370270C>G ENST00000337318.3 - 4 1023 c.812G>C c.(811-813)tGt>tCt p.C271S FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 271 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GTTAAGGACACACGGCTGGGA 0.577 3 7 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6652623 6652623 + Missense_Mutation SNP G G C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:6652623G>C ENST00000299441.3 - 8 4102 c.3691C>G c.(3691-3693)Cct>Gct p.P1231A RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1231 Cadherin 12. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCCCGGAGGCACGCGGTCT 0.552 18 150 --- --- --- --- OR4D6 219983 broad.mit.edu 37 11 59225028 59225028 + Missense_Mutation SNP A A G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr11:59225028A>G ENST00000300127.2 + 1 618 c.595A>G c.(595-597)Atg>Gtg p.M199V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 GGAGCTTTTCATGATCTCTAA 0.537 8 116 --- --- --- --- SLC39A5 283375 broad.mit.edu 37 12 56628745 56628745 + Silent SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr12:56628745T>A ENST00000266980.4 + 4 902 c.609T>A c.(607-609)ccT>ccA p.P203P SLC39A5_ENST00000454355.2_Silent_p.P203P NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 203 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCCGGCCCCTGCACCCCCAG 0.627 46 102 --- --- --- --- HNF1A 6927 broad.mit.edu 37 12 121434123 121434123 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr12:121434123C>T ENST00000257555.6 + 5 1240 c.1014C>T c.(1012-1014)ggC>ggT p.G338G HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G P20823 HNF1A_HUMAN HNF1 homeobox A 338 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAGCAGCGGCGGTCCCTTAG 0.622 Hepatic Adenoma, Familial Clustering of 18 171 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21860705 21860705 + Silent SNP T T A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:21860705T>A ENST00000399982.2 - 33 6796 c.6732A>T c.(6730-6732)cgA>cgT p.R2244R CHD8_ENST00000557364.1_Silent_p.R2244R|CHD8_ENST00000430710.3_Silent_p.R1965R NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2244 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CATCCATGCCTCGGCGAAGTT 0.517 13 194 --- --- --- --- SRP54 6729 broad.mit.edu 37 14 35470176 35470176 + Missense_Mutation SNP C C G TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:35470176C>G ENST00000556994.1 + 5 602 c.205C>G c.(205-207)Ctt>Gtt p.L69V SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000555535.1_3'UTR P61011 SRP54_HUMAN signal recognition particle 54kDa 69 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding p.L69V(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) GGCATCTGGTCTTAACAAAAG 0.353 9 30 --- --- --- --- TTC6 319089 broad.mit.edu 37 14 38296498 38296498 + Missense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:38296498C>T ENST00000553443.1 + 29 5225 c.5225C>T c.(5224-5226)aCt>aTt p.T1742I TTC6_ENST00000476979.1_Missense_Mutation_p.T376I|TTC6_ENST00000382320.3_Missense_Mutation_p.T456I|TTC6_ENST00000267368.7_Missense_Mutation_p.T376I tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) GATGCAATTACTCTAAACCCC 0.403 68 103 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93399080 93399080 + Nonsense_Mutation SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:93399080C>T ENST00000216492.5 + 7 1454 c.1174C>T c.(1174-1176)Cga>Tga p.R392* CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241* NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 392 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GCAGCTGCGACGAGGCTGGAG 0.701 6 10 --- --- --- --- JAG2 3714 broad.mit.edu 37 14 105618060 105618060 + Silent SNP G G A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr14:105618060G>A ENST00000331782.3 - 8 1459 c.1056C>T c.(1054-1056)acC>acT p.T352T JAG2_ENST00000347004.2_Silent_p.T352T NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 352 EGF-like 4. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ACGGGTTGGAGGTGCAGGCGT 0.682 3 34 --- --- --- --- USP8 9101 broad.mit.edu 37 15 50790907 50790907 + Silent SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr15:50790907T>C ENST00000433963.1 + 20 3653 c.3153T>C c.(3151-3153)taT>taC p.Y1051Y USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|RP11-562A8.4_ENST00000560380.1_RNA P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1051 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) TGAAGAAATATAATTTGTTTT 0.328 15 41 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53243397 53243397 + Missense_Mutation SNP C C A TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:53243397C>A ENST00000566029.1 + 3 1665 c.1456C>A c.(1456-1458)Cca>Aca p.P486T CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 486 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TCTGTAGCCTCCATCTTCCAA 0.348 5 14 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68712160 68712160 + Missense_Mutation SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr16:68712160T>C ENST00000264012.4 + 4 914 c.370T>C c.(370-372)Ttc>Ctc p.F124L CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 124 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CAAGGGTCCCTTCCCCCAGAG 0.507 34 96 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15965015 15965015 + Missense_Mutation SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:15965015T>C ENST00000268712.3 - 37 5838 c.5581A>G c.(5581-5583)Agt>Ggt p.S1861G NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1861 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGCTGTTCACTAACTGCTGCT 0.483 43 97 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr17:47696424G>C ENST00000393331.3 - 7 869 c.399C>G c.(397-399)ttC>ttG p.F133L SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448 Prostate(2;0.17) 54 91 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17443441 17443441 + RNA SNP T T C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr21:17443441T>C ENST00000458468.1 + 0 35 NR_027790.1 TAGATGGATCTGAGAACGCTG 0.463 40 130 --- --- --- --- ARHGEF9 23229 broad.mit.edu 37 X 62857909 62857909 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chrX:62857909C>T ENST00000253401.6 - 10 2350 c.1550G>A c.(1549-1551)tGa>tAa p.*517* ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374878.1_Intron NM_015185.2 NP_056000.1 O43307 ARHG9_HUMAN Cdc42 guanine nucleotide exchange factor (GEF) 9 0 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1) 35 CTGTAGGTATCATTTTTTGAA 0.403 6 1 --- --- --- --- RGAG4 340526 broad.mit.edu 37 X 71351091 71351091 + Silent SNP C C T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chrX:71351091C>T ENST00000545866.1 - 1 667 c.300G>A c.(298-300)tcG>tcA p.S100S RGAG4_ENST00000609883.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron NM_001024455.3 NP_001019626.1 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 100 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) AAAGATCATCCGAGATACAGT 0.657 9 5 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22729298 22729299 + RNA INS - - T TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 087237e9-564b-46b8-8f1d-8de3406314b1 e0965003-39bc-46d9-83a7-7df655bdbf56 g.chr4:22729298_22729299insT ENST00000511446.2 + 0 62 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTTCTTTCACATTTTCAAATGA 0.421 58 119 --- --- --- ---