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 ARID1A 8289 broad.mit.edu 37 1 27100117 27100117 + Missense_Mutation SNP C C T TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr1:27100117C>T ENST00000324856.7 + 16 4284 c.3913C>T c.(3913-3915)Cca>Tca p.P1305S ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1305 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CACTGGGGCCCCACAGCCGAA 0.577 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 61 --- --- --- --- LRRC7 57554 broad.mit.edu 37 1 70482159 70482159 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr1:70482159T>C ENST00000310961.5 + 15 1581 c.1163T>C c.(1162-1164)tTa>tCa p.L388S LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 383 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TTGAAGAATTTACCATTCTCA 0.299 8 98 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152192453 152192453 + Missense_Mutation SNP C C G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr1:152192453C>G ENST00000368801.2 - 3 1727 c.1652G>C c.(1651-1653)gGt>gCt p.G551A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 551 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCCTGGAACCAGACTCATG 0.592 6 216 --- --- --- --- TMCC2 9911 broad.mit.edu 37 1 205238117 205238117 + Missense_Mutation SNP G G A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr1:205238117G>A ENST00000358024.3 + 3 1176 c.787G>A c.(787-789)Ggc>Agc p.G263S TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 263 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CCTCCCCGCCGGCCATGGTGA 0.662 9 74 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179476287 179476287 + Missense_Mutation SNP T T G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr2:179476287T>G ENST00000589042.1 - 269 50893 c.50669A>C c.(50668-50670)gAa>gCa p.E16890A TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15249 Fibronectin type-III 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGACACATTTCAACATGGTA 0.423 53 78 --- --- --- --- EIF4E 1977 broad.mit.edu 37 4 99823091 99823091 + Missense_Mutation SNP T T G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr4:99823091T>G ENST00000450253.2 - 2 1585 c.61A>C c.(61-63)Aaa>Caa p.K21Q EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 21 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) GATTCCGTTTTCTCCTCTTCT 0.388 55 90 --- --- --- --- HSPB3 8988 broad.mit.edu 37 5 53751722 53751722 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr5:53751722T>C ENST00000302005.1 + 1 278 c.103T>C c.(103-105)Tat>Cat p.Y35H NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 35 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) TCATGCTTTATATGCACTGCC 0.542 29 65 --- --- --- --- UBAP2 55833 broad.mit.edu 37 9 33943522 33943522 + Silent SNP C C A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr9:33943522C>A ENST00000379238.1 - 15 1728 c.1611G>T c.(1609-1611)ggG>ggT p.G537G UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 537 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ATTCCAGAGCCCCAAACTGCA 0.453 29 57 --- --- --- --- DNAJC25 548645 broad.mit.edu 37 9 114412196 114412196 + Missense_Mutation SNP A A G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr9:114412196A>G ENST00000313525.3 + 3 1009 c.953A>G c.(952-954)aAt>aGt p.N318S DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 318 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 ATCAAGGAGAATTATGAGGTG 0.373 14 13 --- --- --- --- HOGA1 112817 broad.mit.edu 37 10 99358577 99358577 + Missense_Mutation SNP G G T TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr10:99358577G>T ENST00000370646.4 + 2 618 c.257G>T c.(256-258)aGc>aTc p.S86I PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 TTCCTGACCAGCAGTGAGCGC 0.597 4 97 --- --- --- --- PGR 5241 broad.mit.edu 37 11 100998642 100998642 + Missense_Mutation SNP A A G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr11:100998642A>G ENST00000325455.5 - 1 2613 c.1160T>C c.(1159-1161)aTa>aCa p.I387T PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I387T NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 387 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTCCTCCTTTATCTTTAGAGC 0.677 14 14 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12871204 12871204 + Nonsense_Mutation SNP T T G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr12:12871204T>G ENST00000228872.4 + 1 1147 c.431T>G c.(430-432)tTa>tGa p.L144* CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144* NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 144 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CAGACGGGGTTAGCGGAGCAA 0.597 4 16 --- --- --- --- UTP14C 9724 broad.mit.edu 37 13 52603570 52603570 + Silent SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr13:52603570T>C ENST00000521776.2 + 2 1363 c.630T>C c.(628-630)tcT>tcC p.S210S ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 210 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AAAAGGCCTCTCTCCAAGCCA 0.527 8 80 --- --- --- --- UTP14C 9724 broad.mit.edu 37 13 52603571 52603571 + Missense_Mutation SNP C C T TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr13:52603571C>T ENST00000521776.2 + 2 1364 c.631C>T c.(631-633)Ctc>Ttc p.L211F ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 211 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AAAGGCCTCTCTCCAAGCCAT 0.522 8 78 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70960750 70960750 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr15:70960750T>C ENST00000322954.6 - 16 2458 c.2273A>G c.(2272-2274)gAt>gGt p.D758G UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 758 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 AATAATTGCATCATGTGACTT 0.303 5 51 --- --- --- --- USP10 9100 broad.mit.edu 37 16 84793526 84793526 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr16:84793526T>C ENST00000219473.7 + 7 1537 c.1424T>C c.(1423-1425)aTg>aCg p.M475T USP10_ENST00000570191.1_Missense_Mutation_p.M479T NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 475 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TTCACTAATATGCCAGTACCT 0.328 26 17 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7836490 7836490 + Silent SNP G G T TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr17:7836490G>T ENST00000380262.3 + 1 1018 c.93G>T c.(91-93)tcG>tcT p.S31S CNTROB_ENST00000565740.1_Silent_p.S31S|CNTROB_ENST00000563694.1_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 31 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) ACCAAGTGTCGTCTGAAGTGA 0.612 50 87 --- --- --- --- TVP23C 201158 broad.mit.edu 37 17 15406355 15406355 + Silent SNP C C A rs150726968 TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr17:15406355C>A ENST00000225576.3 - 6 749 c.654G>T c.(652-654)gcG>gcT p.A218A TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron NM_145301.2 NP_660344.2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TAAGGCGGGGCGCAGGTTTCC 0.597 15 26 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29576014 29576014 + Silent SNP A A G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr17:29576014A>G ENST00000358273.4 + 30 4370 c.3987A>G c.(3985-3987)tcA>tcG p.S1329S NF1_ENST00000356175.3_Silent_p.S1329S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1329 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TAGAACCATCAGAGAGCCTTG 0.368 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 100 --- --- --- --- IGF2BP1 10642 broad.mit.edu 37 17 47121347 47121347 + Missense_Mutation SNP A A G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr17:47121347A>G ENST00000290341.3 + 11 1553 c.1219A>G c.(1219-1221)Atg>Gtg p.M407V IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 407 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CGAGCAGGAGATGGTGCAGGT 0.617 43 48 --- --- --- --- COLEC12 81035 broad.mit.edu 37 18 347050 347050 + Missense_Mutation SNP T T C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr18:347050T>C ENST00000400256.3 - 5 779 c.572A>G c.(571-573)aAt>aGt p.N191S NM_130386.2 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 191 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GTTCTGCAGATTGCCCTGGAG 0.473 13 119 --- --- --- --- PSMA8 143471 broad.mit.edu 37 18 23713978 23713978 + Missense_Mutation SNP C C A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr18:23713978C>A ENST00000308268.6 + 1 138 c.49C>A c.(49-51)Cac>Aac p.H17N PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 17 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) CCCAGACGGACACCTTTTTCA 0.562 4 59 --- --- --- --- PSG1 5669 broad.mit.edu 37 19 43372287 43372287 + Missense_Mutation SNP C C A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr19:43372287C>A ENST00000244296.2 - 5 1346 c.1209G>T c.(1207-1209)aaG>aaT p.K403N PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TGGAGCTTTCCTTGCCAGTGG 0.458 95 177 --- --- --- --- NLRP7 199713 broad.mit.edu 37 19 55451127 55451127 + Missense_Mutation SNP C C T TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr19:55451127C>T ENST00000446217.1 - 6 1546 c.1144G>A c.(1144-1146)Gcg>Acg p.A382T NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 354 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AACAGGGCCGCGTTGCTCCTC 0.627 17 28 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29632660 29632660 + Missense_Mutation SNP G G A TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr20:29632660G>A ENST00000278882.3 + 8 855 c.475G>A c.(475-477)Gag>Aag p.E159K FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGTAAAGAAGAGAGTAAAAT 0.318 6 623 --- --- --- --- APOBEC3F 200316 broad.mit.edu 37 22 39439011 39439011 + Silent SNP T T G TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chr22:39439011T>G ENST00000308521.5 + 2 444 c.87T>G c.(85-87)cgT>cgG p.R29R APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 29 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) TCCTTTCTCGTCGGAATACCG 0.488 4 54 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70349255 70349255 + Missense_Mutation SNP G G C TCGA-VP-A87J-01A-11D-A34U-08 TCGA-VP-A87J-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc7970c4-93d3-4646-9de0-8fd9c5d420d8 981257f9-1967-453d-8bd8-723f254f32c6 g.chrX:70349255G>C ENST00000333646.6 + 26 3866 c.3667G>C c.(3667-3669)Gtt>Ctt p.V1223L MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1223 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CGTGTTTGCTGTTCTCAAGGC 0.572 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 3 --- --- --- ---