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 FFAR4 338557 broad.mit.edu 37 10 95326548 95326548 + Missense_Mutation SNP G G T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr10:95326548G>T ENST00000371483.4 + 1 127 c.71G>T c.(70-72)cGc>cTc p.R24L FFAR4_ENST00000604414.1_Missense_Mutation_p.R24L|FFAR4_ENST00000371481.4_Missense_Mutation_p.R24L NM_181745.3 NP_859529.2 free fatty acid receptor 4 AACCGCACCCGCTTTCCCTTC 0.701000 6 33 3.59834e-05 3.59834e-05 1 1 0 FBLN7 129804 broad.mit.edu 37 2 112944825 112944825 + Silent SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr2:112944825C>T ENST00000331203.2 + 8 1333 c.1062C>T c.(1060-1062)ctC>ctT p.L354L FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409667.3_Silent_p.L220L|FBLN7_ENST00000409903.1_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 354 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CCATCACGCTCTTCCGCATGG 0.647000 15 176 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889456 147889456 + Nonsense_Mutation SNP G G T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr5:147889456G>T ENST00000360693.3 - 6 777 c.639C>A c.(637-639)taC>taA p.Y213* HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.Y213* NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 213 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CATAGATGCGGTAATAGGCCA 0.542000 23 38 2.89027e-11 3.01593e-11 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276487 186276487 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:186276487C>T ENST00000445192.2 + 7 1681 c.1636C>T c.(1636-1638)Ccc>Tcc p.P546S PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 546 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGTCTGCACCCACCACTCC 0.642000 42 81 0 0 1 0 0 SDR39U1 56948 broad.mit.edu 37 14 24909494 24909494 + Missense_Mutation SNP G G T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr14:24909494G>T ENST00000554698.1 - 4 860 c.353C>A c.(352-354)gCt>gAt p.A118D KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D Q9NRG7 D39U1_HUMAN short chain dehydrogenase/reductase family 39U, member 1 252 binding NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1) 5 GGCAAACTCAGCATTAGTGGC 0.617000 21 37 4.96729e-08 5.03725e-08 1 1 0 HERC1 8925 broad.mit.edu 37 15 63972937 63972937 + Silent SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr15:63972937C>T ENST00000443617.2 - 35 6351 c.6264G>A c.(6262-6264)acG>acA p.T2088T RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2088 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTCCAACACACGTGCCTTCAT 0.373000 23 168 0 0 1 0 0 FAM120A 23196 broad.mit.edu 37 9 96324505 96324505 + Silent SNP T T A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr9:96324505T>A ENST00000277165.6 + 17 3158 c.2964T>A c.(2962-2964)gtT>gtA p.V988V FAM120A_ENST00000340893.4_Silent_p.V942V|FAM120A_ENST00000333936.5_Silent_p.V1016V NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 988 RNA binding. cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CAAGAGGAGTTATTTCCACCC 0.368000 18 46 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 52 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28611413 28611413 + Silent SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr13:28611413A>G ENST00000380982.4 - 10 1299 c.1218T>C c.(1216-1218)ttT>ttC p.F406F FLT3_ENST00000241453.7_Silent_p.F406F|FLT3_ENST00000537084.1_Silent_p.F406F P36888 FLT3_HUMAN fms-related tyrosine kinase 3 406 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TATGATTGCAAAACTTGGATA 0.378000 """Mis, O""" """AML, ALL""" 9 75 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802239 185802239 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr2:185802239G>A ENST00000302277.6 + 4 2710 c.2116G>A c.(2116-2118)Gca>Aca p.A706T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 706 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACAATCAAATGCAACAATGAT 0.308000 4 98 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14157294 14157294 + Silent SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:14157294G>A ENST00000263379.2 + 8 1130 c.1005G>A c.(1003-1005)acG>acA p.T335T NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 335 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 CTGGGAGCACGGAGCTACTGG 0.627000 14 203 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64096085 64096085 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr5:64096085G>A ENST00000508024.1 + 8 881 c.680G>A c.(679-681)gGc>gAc p.G227D CWC27_ENST00000381070.3_Missense_Mutation_p.G227D Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 227 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 AGCATGAAGGGCAAAAGCAAA 0.358000 4 94 0 0 1 0 0 SVILP1 0 broad.mit.edu 37 10 30986364 30986364 + RNA SNP G G A rs7078530 by1000genomes TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr10:30986364G>A ENST00000435645.1 + 0 354 CAATAGTGGGGACTGCTTCCT 0.537000 3 26 0 0 1 0 0 GDPD1 284161 broad.mit.edu 37 17 57348316 57348316 + Missense_Mutation SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr17:57348316A>G ENST00000284116.4 + 8 867 c.730A>G c.(730-732)Atg>Gtg p.M244V GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 244 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ACCACACACCATGTCCAGAAG 0.279000 34 76 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50953529 50953529 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr10:50953529C>T ENST00000374103.4 - 12 1575 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 497 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GTGGCCACGCCGGCGGTAACA 0.572000 26 73 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34257924 34257924 + Missense_Mutation SNP G G A rs144983593 TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr9:34257924G>A ENST00000379166.2 - 11 1800 c.1681C>T c.(1681-1683)Cgg>Tgg p.R561W KIF24_ENST00000379174.3_Missense_Mutation_p.R427W|KIF24_ENST00000402558.2_Missense_Mutation_p.R561W|KIF24_ENST00000345050.2_Missense_Mutation_p.R427W NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 561 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CCAGATGTCCGATTTCGACTG 0.398000 112 56 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44932761 44932761 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:44932761C>T ENST00000291187.4 - 6 2499 c.2177G>A c.(2176-2178)aGa>aAa p.R726K ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R732K|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGTGTGCACTCTCTTATGACT 0.517000 4 45 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54735129 54735129 + Nonsense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr6:54735129C>T ENST00000306858.7 + 2 201 c.85C>T c.(85-87)Cga>Tga p.R29* NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 29 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GGAATGGTATCGAGTAGCCAT 0.403000 55 141 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060317 111060317 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:111060317C>T ENST00000369771.2 - 1 1480 c.1093G>A c.(1093-1095)Ggg>Agg p.G365R NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 365 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGTGTTTGCCCGAGGATCTGC 0.557000 73 59 0 0 1 0 0 CYP26B1 56603 broad.mit.edu 37 2 72362274 72362274 + Splice_Site SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr2:72362274C>T ENST00000001146.2 - 3 907 c.705_splice c.e3+1 p.R235_splice CYP26B1_ENST00000412253.1_Splice_Site_p.R44_splice|CYP26B1_ENST00000546307.1_Splice_Site_p.R160_splice NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 235 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 GGTGCTCACCCGCCGGTAGCC 0.637000 4 55 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096396 167096396 + Silent SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:167096396G>A ENST00000361200.2 + 6 2194 c.2028G>A c.(2026-2028)acG>acA p.T676T DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T676T|DUSP27_ENST00000271385.5_Silent_p.T676T Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 676 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGGACACGACGTCAGTACTGA 0.637000 5 45 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61911645 61911645 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr17:61911645C>T ENST00000448276.2 - 8 1230 c.965G>A c.(964-966)gGa>gAa p.G322E SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E|SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 322 SWIB. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 CGTGTGCACTCCCAGCAGCCT 0.567000 OREG0024642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 23 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38678119 38678119 + Missense_Mutation SNP G G C TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr8:38678119G>C ENST00000379931.3 + 3 1736 c.1357G>C c.(1357-1359)Gaa>Caa p.E453Q TACC1_ENST00000317827.4_Missense_Mutation_p.E453Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520611.1_5'UTR O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 453 SPAZ 2. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TGAAATCTTAGAATCACCCAA 0.453000 104 212 0 0 1 0 0 SEC1P 0 broad.mit.edu 37 19 49183574 49183574 + RNA SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:49183574C>T ENST00000430145.2 + 0 661 NR_004401.2 TGCACAGCACCCTGGCCCCCA 0.667000 4 18 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 74 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835570 247835570 + Silent SNP G G T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:247835570G>T ENST00000359688.2 - 1 795 c.774C>A c.(772-774)cgC>cgA p.R258R RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGAAGCAGGGCGGATATAGG 0.463000 26 145 1.75199e-13 1.85504e-13 1 1 0 DUOX2 50506 broad.mit.edu 37 15 45398797 45398797 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr15:45398797C>T ENST00000389039.6 - 16 2259 c.1874G>A c.(1873-1875)cGa>cAa p.R625Q DUOX2_ENST00000603300.1_Missense_Mutation_p.R625Q Q9NRD8 DUOX2_HUMAN dual oxidase 2 625 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTTGTGTTCTCGGCCCCGGAA 0.557000 31 165 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 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 85 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67046685 67046685 + Missense_Mutation SNP C C G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr11:67046685C>G ENST00000308595.5 + 3 495 c.205C>G c.(205-207)Cga>Gga p.R69G ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 69 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity p.R69R(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CCTGCTCTTCCGAGACTTCTG 0.592000 6 71 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156764859 156764859 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr4:156764859C>T ENST00000537611.2 - 5 881 c.835G>A c.(835-837)Gca>Aca p.A279T NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 279 integral to membrane|plasma membrane GTTACCCTTGCGTGCATTCCC 0.448000 35 105 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72190411 72190411 + Nonsense_Mutation SNP A A T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr15:72190411A>T ENST00000356056.5 - 25 4905 c.4433T>A c.(4432-4434)tTg>tAg p.L1478* MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098* NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1478 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTCTGTATTCAAAGAAGGAAC 0.393000 10 114 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6567822 6567822 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr12:6567822G>A ENST00000266556.7 + 5 1081 c.916G>A c.(916-918)Gta>Ata p.V306I TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 306 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 TTCCCCTAAAGTACGACTGAG 0.522000 11 145 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28609684 28609684 + Silent SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr13:28609684A>G ENST00000380982.4 - 12 1626 c.1545T>C c.(1543-1545)tgT>tgC p.C515C FLT3_ENST00000241453.7_Silent_p.C515C|FLT3_ENST00000537084.1_Silent_p.C515C P36888 FLT3_HUMAN fms-related tyrosine kinase 3 515 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AATTGTATGCACAGCACTTGA 0.438000 """Mis, O""" """AML, ALL""" 18 153 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100013489 100013489 + Silent SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr10:100013489C>T ENST00000260702.3 - 11 1806 c.1656G>A c.(1654-1656)ccG>ccA p.P552P RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 552 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GCTGGCTGAGCGGGCGGTCCT 0.627000 23 49 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261116 32261116 + Missense_Mutation SNP T T G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr6:32261116T>G ENST00000375015.4 - 26 1531 c.1331A>C c.(1330-1332)aAg>aCg p.K444T C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K445T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 445 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGCCTCACTCTTCTTTTCTTG 0.458000 27 345 0 0 1 0 0 ZNF490 57474 broad.mit.edu 37 19 12692359 12692359 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:12692359G>A ENST00000311437.6 - 5 652 c.530C>T c.(529-531)tCt>tTt p.S177F NM_020714.2 NP_065765.1 Q9ULM2 ZN490_HUMAN zinc finger protein 490 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 TTCAGTGTGAGATCTCATGTG 0.443000 72 131 0 0 1 0 0 DDIT3 1649 broad.mit.edu 37 12 57911132 57911132 + Missense_Mutation SNP C C T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr12:57911132C>T ENST00000551116.1 - 3 394 c.127G>A c.(127-129)Gcc>Acc p.A43T DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T|DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A20T NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1 NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1 P35638 DDIT3_HUMAN DNA-damage-inducible transcript 3 20 cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding EWSR1/DDIT3(45)|FUS/DDIT3(631) central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1) 16 TCATACCAGGCTTCCAGCTCC 0.493000 T FUS liposarcoma 22 39 0 0 1 0 0 ZNF271 0 broad.mit.edu 37 18 32887852 32887852 + RNA SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr18:32887852G>A ENST00000399070.3 + 0 2246 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 GAATGCTGTTGATTATTGATG 0.373000 15 31 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608458 81608458 + Missense_Mutation SNP T T G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr5:81608458T>G ENST00000380167.4 + 9 1485 c.160T>G c.(160-162)Tcc>Gcc p.S54A ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 54 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 CAACAAGTTGTCCATCCAGAG 0.413000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 213 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167674102 167674102 + Missense_Mutation SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr5:167674102A>G ENST00000519204.1 + 26 5913 c.5795A>G c.(5794-5796)aAc>aGc p.N1932S TENM2_ENST00000518659.1_Missense_Mutation_p.N2053S|TENM2_ENST00000545108.1_Missense_Mutation_p.N2052S|TENM2_ENST00000520394.1_Missense_Mutation_p.N1814S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1877S teneurin transmembrane protein 2 AAGATGGTCAACCTCCAAAGT 0.522000 61 119 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 5 44 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14634097 14634097 + Silent SNP T T C TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr12:14634097T>C ENST00000544627.1 + 13 3602 c.3282T>C c.(3280-3282)gtT>gtC p.V1094V ATF7IP_ENST00000540793.1_Silent_p.V1086V|ATF7IP_ENST00000536444.1_Silent_p.V1085V|ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000261168.4_Silent_p.V1086V Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1086 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CTCCTGCTGTTCGGCAGGTCA 0.453000 7 132 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28209255 28209255 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:28209255G>A ENST00000373921.3 + 4 1424 c.1420G>A c.(1420-1422)Ggc>Agc p.G474S THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.G345S NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 CTCCTTCCTGGGCCTGCGGCT 0.602000 6 84 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13919350 13919350 + Silent SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr5:13919350A>G ENST00000265104.4 - 7 1014 c.910T>C c.(910-912)Ttg>Ctg p.L304L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 304 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGGCTTTTCAATTGTTCCAAA 0.507000 Kartagener syndrome 28 218 0 0 1 0 0 GBGT1 26301 broad.mit.edu 37 9 136029281 136029281 + Missense_Mutation SNP G G A TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr9:136029281G>A ENST00000372040.3 - 7 1038 c.727C>T c.(727-729)Cgc>Tgc p.R243C GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05) ACACGCCTGCGCTCATAGGGG 0.602000 44 97 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11135091 11135091 + Missense_Mutation SNP G G T TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:11135091G>T ENST00000358026.2 + 21 3342 c.3058G>T c.(3058-3060)Gat>Tat p.D1020Y SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1020 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCTGCTGACTGATGGCTCCGA 0.627000 """F, N, Mis""" NSCLC 18 33 9.16793e-09 9.42987e-09 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23927189 23927189 + Missense_Mutation SNP T T C rs145416258 byFrequency TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr19:23927189T>C ENST00000402377.3 - 4 1304 c.1163A>G c.(1162-1164)cAt>cGt p.H388R ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTCTCCAGTATGAATTATCTT 0.398000 30 56 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23646265 23646265 + Silent SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr16:23646265A>G ENST00000261584.4 - 4 1754 c.1602T>C c.(1600-1602)tcT>tcC p.S534S NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 534 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCGACAGGCTAGAAGTTGGCA 0.418000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 5 127 0 0 1 0 0 ADK 132 broad.mit.edu 37 10 76360239 76360239 + Missense_Mutation SNP A A G TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr10:76360239A>G ENST00000372734.3 + 9 1001 c.814A>G c.(814-816)Ata>Gta p.I272V ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 289 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) AGATGACACTATAATGGCTAC 0.348000 7 33 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075437 76075437 + RNA SNP G G A rs62028907 by1000genomes TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr15:76075437G>A ENST00000395215.3 + 0 1077 AAGACGCTACGGGAGCAGGGT 0.607000 8 310 0 0 1 0 0 KTI12 112970 broad.mit.edu 37 1 52498859 52498865 + Frame_Shift_Del DEL GAATCCG GAATCCG - rs2783175 byFrequency TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:52498859_52498865delGAATCCG ENST00000371614.1 - 1 623_629 c.569_575delCGGATTC c.(568-576)cafs p.PDS190fs TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 190 ATP binding p.D191E(1) central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 AGATTTCTCTGAATCCGGAGTCACAAG 0.575 11 97 --- --- --- --- ARID4B 51742 broad.mit.edu 37 1 235345238 235345244 + Frame_Shift_Del DEL TCTTCAA TCTTCAA - TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr1:235345238_235345244delTCTTCAA ENST00000264183.3 - 20 3487_3493 c.2990_2996delTTGAAGA c.(2989-2997)aafs p.IEE997fs ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 997 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TACTGTTTTTTCTTCAATGGGTTTACT 0.444 53 84 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888988 65888988 + RNA DEL T T - TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr7:65888988delT ENST00000442578.1 - 0 826 tttttttttcttttttttttt 0.488 3 6 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HT-8109-01A-11D-2395-08 TCGA-HT-8109-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61523043-c989-4ebc-8d20-80f1c578aa38 a2939a7a-eec5-4cf0-821a-f0bb89ad36e7 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 238 --- --- --- ---