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 OTUD7A 161725 broad.mit.edu 37 15 31779437 31779437 + Missense_Mutation SNP T T C TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr15:31779437T>C ENST00000382902.1 - 10 1423 c.1331A>G c.(1330-1332)tAc>tGc p.Y444C OTUD7A_ENST00000307050.4_Missense_Mutation_p.Y437C Q8TE49 OTU7A_HUMAN OTU domain containing 7A 437 Catalytic (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CACGTTCATGTAGCTGTGCAG 0.567000 3 35 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38531030 38531030 + Missense_Mutation SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr22:38531030C>T ENST00000332509.3 - 6 1042 c.859G>A c.(859-861)Gga>Aga p.G287R PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 287 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) GGGCTGGCTCCGTAACGGGGG 0.662000 5 36 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235955049 235955049 + Missense_Mutation SNP T T A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr1:235955049T>A ENST00000389794.3 - 12 4667 c.4493A>T c.(4492-4494)aAg>aTg p.K1498M LYST_ENST00000389793.2_Missense_Mutation_p.K1498M|LYST_ENST00000536965.1_Intron Q99698 LYST_HUMAN lysosomal trafficking regulator 1498 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GTTTCTTTTCTTTATCTTCTT 0.363000 9 43 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39818117 39818117 + Missense_Mutation SNP T T G TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr14:39818117T>G ENST00000553728.1 + 27 4002 c.3789T>G c.(3787-3789)ttT>ttG p.F1263L CTAGE5_ENST00000348007.3_Missense_Mutation_p.F685L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.F728L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.F733L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.F653L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.F648L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.F699L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.F699L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.F716L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.F728L GAGCCATGTTTGGAGCTTCTC 0.468000 4 80 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 4 71 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 4 71 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78796978 78796978 + Missense_Mutation SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr17:78796978C>T ENST00000306801.3 + 9 1453 c.1091C>T c.(1090-1092)cCc>cTc p.P364L RPTOR_ENST00000570891.1_Missense_Mutation_p.P364L|RPTOR_ENST00000544334.2_Missense_Mutation_p.P364L|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.P179L NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 364 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 AACTGCACTCCCGTCAGCAGC 0.552000 42 63 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 11 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126103 58126103 + Missense_Mutation SNP T T A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr11:58126103T>A ENST00000357377.3 - 1 439 c.440A>T c.(439-441)tAt>tTt p.Y147F NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACCAATGACATAACAGCCTAT 0.443000 26 49 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39818109 39818109 + Missense_Mutation SNP G G A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr14:39818109G>A ENST00000553728.1 + 27 3994 c.3781G>A c.(3781-3783)Gcc>Acc p.A1261T CTAGE5_ENST00000348007.3_Missense_Mutation_p.A683T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A726T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A731T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A651T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A646T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A697T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A697T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A714T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A726T TCCTCCAGGAGCCATGTTTGG 0.478000 4 81 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 6 22 0 0 1 0 0 MGAT4A 11320 broad.mit.edu 37 2 99256429 99256429 + Silent SNP G G A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr2:99256429G>A ENST00000393487.1 - 12 1477 c.1164C>T c.(1162-1164)atC>atT p.I388I MGAT4A_ENST00000264968.2_Silent_p.I388I|MGAT4A_ENST00000414521.2_Silent_p.I260I|MGAT4A_ENST00000409391.1_Silent_p.I388I NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 388 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 GGTTTACATGGATTTTAAGAA 0.363000 10 25 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145161544 145161544 + Missense_Mutation SNP G G A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr2:145161544G>A ENST00000558170.2 - 6 1930 c.746C>T c.(745-747)aCg>aTg p.T249M ZEB2_ENST00000539609.3_Missense_Mutation_p.T225M|ZEB2_ENST00000409487.3_Missense_Mutation_p.T249M|ZEB2_ENST00000303660.4_Missense_Mutation_p.T249M NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 249 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GTAGGCAAACGTGTAGCTACA 0.512000 27 46 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39818104 39818104 + Missense_Mutation SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr14:39818104C>T ENST00000553728.1 + 27 3989 c.3776C>T c.(3775-3777)cCa>cTa p.P1259L CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729L|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644L|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P724L CCACCTCCTCCAGGAGCCATG 0.483000 4 87 0 0 1 0 0 RPS12 6206 broad.mit.edu 37 6 133138134 133138134 + Silent SNP C C G rs146638149 TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr6:133138134C>G ENST00000230050.3 + 5 480 c.270C>G c.(268-270)ggC>ggG p.G90G NM_001016.3 NP_001007.2 P25398 RS12_HUMAN ribosomal protein S12 90 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(13)|lung(3)|urinary_tract(1) 18 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) AATGGGTAGGCCTTTGTAAAA 0.358000 5 55 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034146 17034146 + RNA SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr1:17034146C>T ENST00000492551.1 - 0 457 NR_026567.1 CTTGCTGTGGCCGCGGCTCGC 0.721000 3 8 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10108796 10108796 + Missense_Mutation SNP C C A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr19:10108796C>A ENST00000264828.3 - 9 1225 c.1140G>T c.(1138-1140)gaG>gaT p.E380D NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 380 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCACTGCGGGCTCTCCTTTTG 0.537000 5 331 0.248553 0.248553 1 1 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 3 22 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 31 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130785254 130785254 + Missense_Mutation SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr11:130785254C>T ENST00000265909.4 - 1 1150 c.581G>A c.(580-582)cGg>cAg p.R194Q SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.R194Q|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 194 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGCAGTCGCCCGGCAGTAAGC 0.592000 6 33 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154197827 154197827 + Splice_Site SNP C C G TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chrX:154197827C>G ENST00000360256.4 - 7 988 c.787_splice c.e7-1 p.G263_splice NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 263 F5/8 type A 1.|Plastocyanin-like 2. G -> S (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCAATCAGACCTGTAAAGTA 0.408000 13 28 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 6 62 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 3 13 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 48 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592647 38592647 + Missense_Mutation SNP C C T TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr3:38592647C>T ENST00000413689.1 - 28 5409 c.5216G>A c.(5215-5217)cGg>cAg p.R1739Q SCN5A_ENST00000455624.2_Missense_Mutation_p.R1706Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1685Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1738Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1738Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1739Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1721Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1721Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1739 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCAGTCCCCCCGAGAGCCATT 0.612000 26 57 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 54 0 0 1 0 0 LYRM7 90624 broad.mit.edu 37 5 130517950 130517951 + Frame_Shift_Ins INS - - A TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr5:130517950_130517951insA ENST00000379380.4 + 3 331_332 c.120_121insA c.(118-123)ttaaaafs p.LK40fs LYRM7_ENST00000507584.1_Frame_Shift_Ins_p.LK40fs|LYRM7_ENST00000510516.1_Intron NM_181705.2 NP_859056.2 Q5U5X0 LYRM7_HUMAN LYR motif containing 7 40 upper_aerodigestive_tract(1) 1 all_cancers(142;0.0377)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGAAGAATTCAAAAATAATAA 0.243 2 4 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 28 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124351559 124351559 + Frame_Shift_Del DEL T T - TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr8:124351559delT ENST00000287394.5 - 20 2953 c.2846delA c.(2845-2847)agfs p.K950fs ATAD2_ENST00000521903.1_Frame_Shift_Del_p.K268fs NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 950 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ACCTGCTTTCTTTTTTGATAT 0.299 2 4 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 63 345 --- --- --- --- GPRC5D 55507 broad.mit.edu 37 12 13102506 13102514 + In_Frame_Del DEL CTGTCTACA CTGTCTACA - TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr12:13102506_13102514delCTGTCTACA ENST00000228887.1 - 1 804_812 c.805_813delTGTAGACAG c.(805-813)del p.CRQ269del RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_In_Frame_Del_p.CRQ269del|RP11-392P7.6_ENST00000545914.1_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 269 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AAGGGCACTCCTGTCTACACGATCTGTAG 0.560 11 125 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 13 48 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691798 106691800 + RNA DEL AAC AAC - TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr14:106691798_106691800delAAC ENST00000390607.2 - 0 302_304 TAGTATATGTAACTACTACTACT 0.517 8 104 --- --- --- --- ZNF544 27300 broad.mit.edu 37 19 58772400 58772402 + In_Frame_Del DEL TGG TGG - TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chr19:58772400_58772402delTGG ENST00000269829.4 + 7 902_904 c.428_430delTGG c.(427-432)ata>a p.MV143del CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_In_Frame_Del_p.MV143del|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Start_Codon_Del|ZNF544_ENST00000600220.1_In_Frame_Del_p.MV115del|ZNF544_ENST00000415203.2_In_Frame_Del_p.MV115del|ZNF544_ENST00000596825.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TTGAGGTTCATGGTACTCACCTC 0.473 20 53 --- --- --- --- BRWD3 254065 broad.mit.edu 37 X 79951458 79951458 + Frame_Shift_Del DEL G G - TCGA-EM-A3SY-01A-11D-A22Z-08 TCGA-EM-A3SY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4f242f0-59bd-4b86-b0a0-0431a3d0d910 0b976d62-807e-4c82-841d-44273272d2fb g.chrX:79951458delG ENST00000373275.4 - 27 3316 c.3100delC c.(3100-3102)ttfs p.L1034fs BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1034 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TGTAGCACAAGGAAGTCAATG 0.308 7 8 --- --- --- ---