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 C1orf172 126695 broad.mit.edu 37 1 27278146 27278146 + Silent SNP G G T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:27278146G>T ENST00000320567.5 - 2 814 c.726C>A c.(724-726)ctC>ctA p.L242L NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 242 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TCTTGAAGATGAGCACATCAA 0.532000 9 35 1.12685e-05 1.14272e-05 1 1 0 TBX18 9096 broad.mit.edu 37 6 85472299 85472299 + Missense_Mutation SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:85472299C>T ENST00000369663.5 - 2 797 c.460G>A c.(460-462)Gag>Aag p.E154K TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 154 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GTGCCTATCTCATGAAAGCGC 0.672000 25 97 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85532449 85532449 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr2:85532449G>A ENST00000282111.3 + 8 1187 c.912G>A c.(910-912)ggG>ggA p.G304G NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 304 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CCACCTCAGGGATCCCCCACC 0.627000 22 55 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33510667 33510667 + Missense_Mutation SNP A A G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr10:33510667A>G ENST00000265371.4 - 9 1787 c.1262T>C c.(1261-1263)gTa>gCa p.V421A NRP1_ENST00000374816.3_Missense_Mutation_p.V421A|NRP1_ENST00000374822.4_Missense_Mutation_p.V421A|NRP1_ENST00000374867.2_Missense_Mutation_p.V421A|NRP1_ENST00000395995.1_Missense_Mutation_p.V421A|NRP1_ENST00000374823.5_Missense_Mutation_p.V421A|NRP1_ENST00000374821.5_Missense_Mutation_p.V421A O14786 NRP1_HUMAN neuropilin 1 421 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GCAACCGTATACTTCAAATCT 0.393000 38 72 0 0 1 0 0 TAS1R1 0 broad.mit.edu 37 1 6635194 6635194 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:6635194G>A ENST00000333172.6 + 3 1195 c.1002G>A c.(1000-1002)ctG>ctA p.L334L TAS1R1_ENST00000328191.4_Silent_p.L334L|TAS1R1_ENST00000351136.3_Intron NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 334 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TCCCTGGCCTGAAGGCGTTTG 0.632000 12 26 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100695160 100695160 + Silent SNP C C A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:100695160C>A ENST00000306151.4 + 9 13084 c.13020C>A c.(13018-13020)atC>atA p.I4340I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4340 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CATACTGCATCAGCCCCTGTG 0.577000 26 109 1.42536e-11 1.48733e-11 1 1 0 TMEM47 83604 broad.mit.edu 37 X 34648444 34648444 + Nonsense_Mutation SNP C C A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chrX:34648444C>A ENST00000275954.3 - 3 790 c.532G>T c.(532-534)Gaa>Taa p.E178* NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 178 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 TAGTAGTCTTCATAGTTCTTA 0.398000 19 48 6.94344e-10 7.14183e-10 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151856077 151856077 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:151856077C>G ENST00000355193.2 - 44 11759 c.11541G>C c.(11539-11541)aaG>aaC p.K3847N KMT2C_ENST00000262189.6_Missense_Mutation_p.K3847N lysine (K)-specific methyltransferase 2C TTCGCTGTTTCTTGGTTTCAC 0.458000 27 98 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56438569 56438569 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:56438569C>G ENST00000370754.5 - 51 13050 c.13051G>C c.(13051-13053)Gac>Cac p.D4351H DST_ENST00000446842.2_Missense_Mutation_p.D3847H|DST_ENST00000312431.6_Missense_Mutation_p.D4171H|DST_ENST00000244364.6_Missense_Mutation_p.D1759H|DST_ENST00000421834.2_Missense_Mutation_p.D2085H|DST_ENST00000370788.2_Missense_Mutation_p.D2085H|DST_ENST00000361203.3_Missense_Mutation_p.D4171H|DST_ENST00000370769.4_Missense_Mutation_p.D4173H Q03001 DYST_HUMAN dystonin 4171 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCATCCAGTCCAGCATTTCA 0.403000 16 52 0 0 1 0 0 PGAP2 27315 broad.mit.edu 37 11 3845543 3845543 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr11:3845543C>G ENST00000396993.4 + 4 400 c.322C>G c.(322-324)Cgg>Ggg p.R108G PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396991.2_Silent_p.L215L|PGAP2_ENST00000465307.2_Missense_Mutation_p.R158G|PGAP2_ENST00000300730.6_Silent_p.L211L|PGAP2_ENST00000278243.4_Silent_p.L215L|PGAP2_ENST00000463452.2_Silent_p.L154L|PGAP2_ENST00000493547.2_Silent_p.L154L|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Silent_p.L211L Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 0 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 CCTCATCCCTCGGGCACATGC 0.562000 24 64 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138258373 138258373 + Missense_Mutation SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:138258373C>T ENST00000343526.4 + 12 2215 c.2000C>T c.(1999-2001)tCt>tTt p.S667F TRIM24_ENST00000415680.2_Missense_Mutation_p.S633F O15164 TIF1A_HUMAN tripartite motif containing 24 667 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TCAGTGCCATCTCCAGGCCTT 0.398000 14 54 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73461349 73461349 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr9:73461349G>C ENST00000377110.2 - 4 864 c.621C>G c.(619-621)ctC>ctG p.L207L TRPM3_ENST00000377101.1_Silent_p.L54L|TRPM3_ENST00000377106.1_Silent_p.L54L|TRPM3_ENST00000408909.2_Silent_p.L54L|TRPM3_ENST00000396285.1_Silent_p.L54L|TRPM3_ENST00000396280.5_Silent_p.L54L|TRPM3_ENST00000396283.1_Silent_p.L54L|TRPM3_ENST00000361823.5_Silent_p.L54L|TRPM3_ENST00000360823.2_Silent_p.L54L|TRPM3_ENST00000396292.4_Silent_p.L54L|TRPM3_ENST00000377111.2_Silent_p.L207L|TRPM3_ENST00000357533.2_Silent_p.L209L|TRPM3_ENST00000377097.3_Silent_p.L54L|TRPM3_ENST00000358082.3_Silent_p.L54L|TRPM3_ENST00000423814.3_Silent_p.L209L|TRPM3_ENST00000377105.1_Silent_p.L54L NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 207 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTGCTTTGATGAGCCCTTTCC 0.483000 26 130 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23688762 23688762 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:23688762G>A ENST00000314011.4 - 4 1249 c.1113C>T c.(1111-1113)ttC>ttT p.F371F ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.F371F NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGCTCCGGCTGAAGCTTTTCC 0.468000 18 59 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125612771 125612771 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr12:125612771G>C ENST00000545511.1 + 3 5100 c.113G>C c.(112-114)aGa>aCa p.R38T AACS_ENST00000316519.6_Missense_Mutation_p.E458D|AACS_ENST00000316543.10_Missense_Mutation_p.E56D|AACS_ENST00000261686.6_Missense_Mutation_p.E458D Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 0 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ATAAAGGGGAGATTCAGGCCC 0.512000 7 20 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19118936 19118936 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr22:19118936G>A ENST00000399635.2 + 1 616 c.24G>A c.(22-24)agG>agA p.R8R DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 8 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) CAGTCCTAAGGAAGAAGGGTT 0.542000 10 34 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44135735 44135735 + Splice_Site SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr11:44135735G>A ENST00000395673.3 + 4 782 c.725_splice c.e4-1 p.R242_splice EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000533608.1_Splice_Site_p.R209_splice|EXT2_ENST00000358681.4_Splice_Site_p.R209_splice|EXT2_ENST00000343631.3_Splice_Site_p.R209_splice NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 209 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTGCTTTCAGGGCCCTGTTGG 0.443000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 7 108 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36250713 36250713 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr19:36250713G>C ENST00000544099.1 + 3 195 c.132G>C c.(130-132)caG>caC p.Q44H C19orf55_ENST00000536950.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q44H|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q44H Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 44 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGTCTCAGAGATCCAGGC 0.577000 3 3 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1269281 1269281 + Silent SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:1269281C>T ENST00000339381.5 + 6 2028 c.1996C>T c.(1996-1998)Ctg>Ttg p.L666L NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 666 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) AGAACTGCCTCTGAGCTGGGC 0.677000 9 36 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42912472 42912472 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr19:42912472G>A ENST00000244289.4 - 3 1698 c.1422C>T c.(1420-1422)ttC>ttT p.F474F LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 474 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding p.F474L(1) breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGGCAGGCGTGAACTGTGGAG 0.617000 25 82 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56397207 56397207 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:56397207C>G ENST00000370754.5 - 64 16949 c.16950G>C c.(16948-16950)aaG>aaC p.K5650N DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.K5146N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.K3058N|DST_ENST00000421834.2_Missense_Mutation_p.K3384N|DST_ENST00000370788.2_Missense_Mutation_p.K3384N|DST_ENST00000361203.3_Missense_Mutation_p.K5470N|DST_ENST00000370769.4_Missense_Mutation_p.K5472N Q03001 DYST_HUMAN dystonin 5470 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTTCAAAATCTTCACTTTAT 0.398000 4 27 0 0 1 0 0 ANAPC15 25906 broad.mit.edu 37 11 71822277 71822277 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr11:71822277G>A ENST00000227618.4 - 3 271 c.46C>T c.(46-48)Ctg>Ttg p.L16L ANAPC15_ENST00000543587.1_Silent_p.L16L|ANAPC15_ENST00000545944.1_Silent_p.L16L|ANAPC15_ENST00000542531.1_Silent_p.L16L|ANAPC15_ENST00000538393.1_Silent_p.L16L|ANAPC15_ENST00000545680.1_Silent_p.L16L|ANAPC15_ENST00000535234.1_Silent_p.L16L|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000543050.1_Silent_p.L16L|ANAPC15_ENST00000535503.1_Silent_p.L16L|ANAPC15_ENST00000538919.1_Silent_p.L16L NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 anaphase promoting complex subunit 15 TTAAACCACAGAGTCTCAGTC 0.512000 23 82 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457891 159457891 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:159457891G>C ENST00000367066.3 - 10 1495 c.1164C>G c.(1162-1164)ctC>ctG p.L388L RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.L210L|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 388 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCCGGCTCTCGAGGCACTCCT 0.587000 13 46 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187443336 187443336 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr3:187443336G>C ENST00000406870.2 - 8 2156 c.1790C>G c.(1789-1791)tCt>tGt p.S597C BCL6_ENST00000450123.2_Missense_Mutation_p.S541C|BCL6_ENST00000232014.4_Missense_Mutation_p.S597C|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 597 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CTTCTCTCCAGAGTGAATTCG 0.572000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 19 66 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152129034 152129034 + Missense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:152129034G>A ENST00000316073.3 - 3 605 c.541C>T c.(541-543)Cac>Tac p.H181Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 181 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGATTGTGGTGAGAATCTCTG 0.458000 77 307 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142510607 142510607 + Missense_Mutation SNP C C G rs150897330 TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:142510607C>G ENST00000367630.4 + 5 514 c.456C>G c.(454-456)atC>atG p.I152M VTA1_ENST00000452973.2_Missense_Mutation_p.I94M|VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 152 Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) CAACATACATCCATAATTGTT 0.343000 27 38 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43829727 43829727 + Missense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:43829727G>A ENST00000372458.3 - 8 817 c.700C>T c.(700-702)Cac>Tac p.H234Y ELOVL1_ENST00000413844.2_Missense_Mutation_p.H207Y|ELOVL1_ENST00000470769.1_5'UTR NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 234 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGATGAGGTGAATAATGACT 0.478000 15 43 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151265367 151265367 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:151265367G>C ENST00000368875.2 - 13 3028 c.2448C>G c.(2446-2448)ctC>ctG p.L816L PI4KB_ENST00000368874.4_Silent_p.L789L|PI4KB_ENST00000271657.5_Silent_p.L816L|PI4KB_ENST00000368873.1_Silent_p.L804L|PI4KB_ENST00000368872.1_Silent_p.L789L|PI4KB_ENST00000529142.1_Silent_p.L472L NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 804 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGCCGTCATAGAGTTTGGTGG 0.587000 14 50 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48155668 48155668 + Silent SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr16:48155668C>T ENST00000311303.3 - 11 2016 c.1671G>A c.(1669-1671)gtG>gtA p.V557V ABCC12_ENST00000416054.1_Silent_p.V557V|ABCC12_ENST00000448542.1_Silent_p.V557V NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 557 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGTTTTCTCTCACATTTCCAT 0.433000 14 35 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67632194 67632194 + Silent SNP T T C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr2:67632194T>C ENST00000272342.5 + 5 2510 c.2380T>C c.(2380-2382)Ttg>Ctg p.L794L ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 794 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TAAGAAGAAATTGAGTACTAA 0.328000 20 33 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94942490 94942490 + Missense_Mutation SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr14:94942490C>T ENST00000337425.5 - 1 94 c.20G>A c.(19-21)aGa>aAa p.R7K SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R7K|SERPINA9_ENST00000546329.1_Silent_p.E34E NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 0 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) ggttcctcttctcctgccctg 0.532000 49 144 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49005818 49005818 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr19:49005818G>C ENST00000600059.1 - 7 893 c.666C>G c.(664-666)ctC>ctG p.L222L LMTK3_ENST00000270238.3_Silent_p.L251L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCTGGGCTCGGAGGTAACGCT 0.697000 5 22 0 0 1 0 0 TMEM54 113452 broad.mit.edu 37 1 33363789 33363789 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:33363789G>C ENST00000373463.3 - 2 267 c.148C>G c.(148-150)Caa>Gaa p.Q50E TMEM54_ENST00000329151.5_Missense_Mutation_p.Q50E|TMEM54_ENST00000475208.1_5'UTR NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 50 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCGCATCTTGAGGGGTGCCC 0.617000 19 47 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603725 111603725 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr3:111603725G>A ENST00000431670.2 + 2 1212 c.801G>A c.(799-801)ctG>ctA p.L267L PHLDB2_ENST00000481953.1_Silent_p.L267L|PHLDB2_ENST00000477695.1_Silent_p.L267L|PHLDB2_ENST00000393923.3_Silent_p.L294L|PHLDB2_ENST00000393925.3_Silent_p.L267L|PHLDB2_ENST00000412622.1_Silent_p.L267L|PHLDB2_ENST00000478922.1_Silent_p.L267L NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 267 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGAACCAGCTGACACCTCTCA 0.478000 18 37 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145555755 145555755 + Missense_Mutation SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:145555755C>T ENST00000355594.4 + 2 190 c.103C>T c.(103-105)Cgc>Tgc p.R35C ANKRD35_ENST00000544626.1_Missense_Mutation_p.R35C NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 35 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGATGTGGGACGCGTGGCTGC 0.602000 14 26 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158478911 158478911 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:158478911C>G ENST00000409339.3 - 8 903 c.790G>C c.(790-792)Gaa>Caa p.E264Q NCAPG2_ENST00000409423.1_Missense_Mutation_p.E264Q|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E264Q|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E56Q|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E264Q Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 264 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AAATAAATTTCTGCAATGTAT 0.254000 12 19 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521834 96521834 + Missense_Mutation SNP T T C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr2:96521834T>C ENST00000456556.1 - 63 4259 c.4175A>G c.(4174-4176)aAa>aGa p.K1392R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.K643R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.K419R ankyrin repeat domain 36C p.K643R(4)|p.K1392R(2) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GTTTTGGTTTTTTATTGTGTC 0.363000 3 22 0 0 1 0 0 RHOQ 23433 broad.mit.edu 37 2 46803742 46803742 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr2:46803742G>C ENST00000238738.4 + 4 728 c.409G>C c.(409-411)Gat>Cat p.D137H RP11-417F21.1_ENST00000506009.2_RNA NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 137 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAGACTGAATGATATGAAAGA 0.318000 15 50 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138871491 138871491 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chrX:138871491C>G ENST00000370557.1 - 13 2390 c.1363G>C c.(1363-1365)Gat>Cat p.D455H ATP11C_ENST00000370543.1_Missense_Mutation_p.D458H|ATP11C_ENST00000361648.2_Missense_Mutation_p.D458H|ATP11C_ENST00000359686.2_Missense_Mutation_p.D458H|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.D458H Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 458 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGCACCTTATCTACTTTGTCA 0.318000 8 32 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105455319 105455319 + Nonsense_Mutation SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr14:105455319C>T ENST00000547315.1 + 2 1102 c.463C>T c.(463-465)Caa>Taa p.Q155* C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 155 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) GTGTGCTTTTCAAGAAATAAC 0.383000 29 49 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127926 152127926 + Missense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:152127926G>A ENST00000316073.3 - 3 1713 c.1649C>T c.(1648-1650)aCa>aTa p.T550I NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 550 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTGTCTGTCTGTCTGACCATA 0.522000 37 702 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597418 136597418 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:136597418G>A ENST00000531224.1 - 5 1497 c.1245C>T c.(1243-1245)gtC>gtT p.V415V BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.V413V|BCLAF1_ENST00000353331.4_Silent_p.V413V|BCLAF1_ENST00000527759.1_Silent_p.V413V|BCLAF1_ENST00000527536.1_Silent_p.V415V NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 415 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GATCTGCGAGGACTGACTTCC 0.418000 68 290 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724229 49724229 + Silent SNP G G T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr3:49724229G>T ENST00000449682.2 - 7 1096 c.735C>A c.(733-735)ctC>ctA p.L245L MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.L170L|MST1_ENST00000545762.1_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 231 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GACCTTGGTCGAGGAACCTGG 0.622000 6 25 0.00116845 0.00116845 1 1 0 GSTM5 2949 broad.mit.edu 37 1 110256075 110256075 + Silent SNP A A G rs2479390 by1000genomes TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr1:110256075A>G ENST00000369813.1 + 2 929 c.24A>G c.(22-24)caA>caG p.Q8Q GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Silent_p.Q68Q P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST N-terminal.|Glutathione binding (By similarity). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TGGTGGCCCAACTGAGCTTCC 0.572000 9 100 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116067643 116067643 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr10:116067643G>C ENST00000369271.3 - 10 1293 c.993C>G c.(991-993)ctC>ctG p.L331L AFAP1L2_ENST00000304129.4_Silent_p.L331L|AFAP1L2_ENST00000545353.1_Silent_p.L384L NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 331 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TGCTCAGTTTGAGGCCAGCAG 0.483000 7 43 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133936606 133936606 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr9:133936606G>C ENST00000361069.4 + 13 2476 c.2343G>C c.(2341-2343)caG>caC p.Q781H LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 781 Laminin EGF-like 7. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCCCGGGCCAGAGAGGTAAGT 0.687000 3 17 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 853445 853445 + Nonsense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr4:853445G>A ENST00000314167.4 - 24 3342 c.3232C>T c.(3232-3234)Cag>Tag p.Q1078* GAK_ENST00000511163.1_Nonsense_Mutation_p.Q999*|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1078 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) TCCGGGTTCTGAGACTTGGTC 0.612000 20 68 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79804400 79804400 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr17:79804400C>G ENST00000331483.4 - 7 1183 c.961G>C c.(961-963)Gag>Cag p.E321Q P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.E277Q|P4HB_ENST00000472244.1_5'UTR NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 321 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) ATCTCCTCCTCCAGGGTGATG 0.577000 20 59 0 0 1 0 0 CT62 196993 broad.mit.edu 37 15 71403760 71403760 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr15:71403760G>C ENST00000449977.2 - 4 647 c.141C>G c.(139-141)ctC>ctG p.L47L THSD4_ENST00000355327.3_Intron|RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR NM_001102658.1 NP_001096128.1 P0C5K7 CT62_HUMAN cancer/testis antigen 62 47 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 CAGCATTCCAGAGTTCCTGGA 0.493000 6 11 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86205661 86205661 + Silent SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr15:86205661G>C ENST00000361243.2 + 12 4869 c.4788G>C c.(4786-4788)ctG>ctC p.L1596L AKAP13_ENST00000394518.2_Intron|AKAP13_ENST00000560579.1_Intron|RP11-815J21.4_ENST00000558980.1_RNA NM_006738.4 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1596 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CTGCTGGCCTGAGTGCTGACT 0.478000 29 75 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 22 41 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112701951 112701951 + Silent SNP C C T TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr12:112701951C>T ENST00000550722.1 - 17 2648 c.2253G>A c.(2251-2253)ttG>ttA p.L751L HECTD4_ENST00000377560.5_Silent_p.L713L|HECTD4_ENST00000430131.2_Silent_p.L463L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CAGGTTTAATCAAAATAGTGT 0.408000 4 12 0 0 1 0 0 NDUFAF6 137682 broad.mit.edu 37 8 96044311 96044311 + Nonsense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr8:96044311G>A ENST00000396113.1 + 8 1056 c.6G>A c.(4-6)tgG>tgA p.W2* NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E44K|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.E96K|NDUFAF6_ENST00000396111.2_Nonsense_Mutation_p.W2* Q330K2 CH038_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 0 biosynthetic process mitochondrion transferase activity CTTTAATGTGGAACTGGCTCA 0.383000 17 44 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66264824 66264824 + Missense_Mutation SNP G G C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr11:66264824G>C ENST00000532677.1 + 16 2212 c.1811G>C c.(1810-1812)gGa>gCa p.G604A DPP3_ENST00000530165.1_Missense_Mutation_p.G555A|DPP3_ENST00000360510.2_Missense_Mutation_p.G585A|DPP3_ENST00000541961.1_Missense_Mutation_p.G585A|DPP3_ENST00000531863.1_Missense_Mutation_p.G605A|DPP3_ENST00000453114.1_Missense_Mutation_p.G585A NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 585 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity p.G585E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCTGGCGAGGGACTCGTTACC 0.622000 29 49 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904455 5904455 + Silent SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr20:5904455G>A ENST00000378961.4 + 4 1869 c.1665G>A c.(1663-1665)ctG>ctA p.L555L NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 555 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AAAATGAGCTGACCTTGAACG 0.453000 20 55 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81259151 81259151 + Missense_Mutation SNP C C G TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr14:81259151C>G ENST00000555265.1 - 14 1888 c.1513G>C c.(1513-1515)Gag>Cag p.E505Q CEP128_ENST00000281129.3_Missense_Mutation_p.E505Q Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 505 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GATTGTTTCTCCAACGCTCGT 0.418000 19 97 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96503564 96503564 + Missense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr5:96503564G>A ENST00000283109.3 - 8 1072 c.1004C>T c.(1003-1005)tCa>tTa p.S335L RIOK2_ENST00000508447.1_Missense_Mutation_p.S335L|CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 335 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) ATCTGAAAATGAGAATTCAGA 0.418000 28 122 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533689 92533689 + Missense_Mutation SNP G G A TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr11:92533689G>A ENST00000298047.6 + 9 7527 c.7510G>A c.(7510-7512)Gag>Aag p.E2504K FAT3_ENST00000409404.2_Missense_Mutation_p.E2504K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2354K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2504 Cadherin 23. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATACGTAGCTGAGGTGAGAGA 0.493000 TCGA Ovarian(4;0.039) 11 31 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr21:11058248G>A ENST00000470054.1 - 0 399 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) GCAGCACAAGGATAATGATAC 0.433000 7 118 0 0 1 0 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- FOXP4 116113 broad.mit.edu 37 6 41555185 41555186 + Frame_Shift_Ins INS - - C TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr6:41555185_41555186insC ENST00000373060.1 + 7 1265_1266 c.807_808insC c.(805-810)tcccccfs p.SP269fs FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.SP268fs|FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000307972.4_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.SP267fs NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 269 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCAAGGTCTCACCCCCCCTCTC 0.678 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 30 67 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635389 96635391 + In_Frame_Del DEL CAG CAG - rs35478952 TCGA-EL-A4KG-01A-11D-A257-08 TCGA-EL-A4KG-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d51f96c1-4d44-41d5-b65a-9f997c677516 d725a9b8-181f-462f-88b8-73c73118a66d g.chr7:96635389_96635391delCAG ENST00000518156.2 + 1 530_532 c.100_102delCAG c.(100-102)del p.Q44del DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) gcagcagcaacagcagcagcagc 0.680 3 4 --- --- --- ---