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 FAM188A 80013 broad.mit.edu 37 10 15883458 15883458 + Missense_Mutation SNP G G A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr10:15883458G>A ENST00000277632.3 - 4 596 c.376C>T c.(376-378)Cct>Tct p.P126S FAM188A_ENST00000477891.1_5'UTR NM_024948.2 NP_079224.1 Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 126 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 GACTCTGCAGGACTCCCAGAA 0.348000 5 36 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50904710 50904710 + Silent SNP G G C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr14:50904710G>C ENST00000013125.4 - 24 2043 c.1725C>G c.(1723-1725)ctC>ctG p.L575L NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 575 CNH. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) TGTGAGAGTAGAGCTGAAAGG 0.348000 3 39 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88767438 88767438 + Missense_Mutation SNP C C A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr4:88767438C>A ENST00000497649.2 + 6 1724 c.1346C>A c.(1345-1347)cCc>cAc p.P449H MEPE_ENST00000395102.4_Missense_Mutation_p.P504H|MEPE_ENST00000560249.1_Missense_Mutation_p.P360H|MEPE_ENST00000361056.3_Missense_Mutation_p.P473H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.P473H|MEPE_ENST00000540395.1_Missense_Mutation_p.P360H Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 473 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CATTATGTACCCCACAGACAA 0.413000 6 45 3.59834e-05 3.95817e-05 1 1 0 AGBL1 123624 broad.mit.edu 37 15 86810268 86810268 + Missense_Mutation SNP T T G TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr15:86810268T>G ENST00000441037.2 + 12 1756 c.1661T>G c.(1660-1662)tTt>tGt p.F554C AGBL1_ENST00000389298.3_Missense_Mutation_p.F285C|AGBL1_ENST00000421325.2_Missense_Mutation_p.F554C NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 554 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TTCTCCAAATTTGAGTCAGGA 0.408000 4 1 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 44 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113888241 113888241 + Silent SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr13:113888241T>C ENST00000451881.1 + 7 655 c.406T>C c.(406-408)Ttg>Ctg p.L136L CUL4A_ENST00000375440.4_Silent_p.L236L|CUL4A_ENST00000375441.3_Silent_p.L136L|CUL4A_ENST00000326335.4_Silent_p.L136L NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 236 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) ACTGAAATTTTTGGAAGAGAC 0.403000 5 46 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815687 106815687 + Missense_Mutation SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr8:106815687T>C ENST00000407775.2 + 8 3627 c.3377T>C c.(3376-3378)aTc>aCc p.I1126T ZFPM2_ENST00000378472.4_Missense_Mutation_p.I857T|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I994T|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1126 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTATGTGATATCCAGTTCAAC 0.418000 3 19 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113145101 113145101 + Missense_Mutation SNP C C A TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr3:113145101C>A ENST00000393845.2 - 4 343 c.277G>T c.(277-279)Gct>Tct p.A93S WDR52_ENST00000295868.2_Missense_Mutation_p.A93S|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 93 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TCTTCCACAGCTGGAGCAGGG 0.398000 4 84 0.00909568 0.00952881 1 1 0 ZNF519 162655 broad.mit.edu 37 18 14106297 14106297 + Missense_Mutation SNP A A G TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr18:14106297A>G ENST00000590202.1 - 3 394 c.242T>C c.(241-243)tTa>tCa p.L81S ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 GTTTTTCCATAAGCATATATT 0.353000 17 19 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 67 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99376082 99376082 + Missense_Mutation SNP A A C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr10:99376082A>C ENST00000335628.3 - 4 552 c.553T>G c.(553-555)Tgt>Ggt p.C185G PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR|MORN4_ENST00000307450.6_Missense_Mutation_p.C127G Q8NDC4 MORN4_HUMAN MORN repeat containing 4 127 large_intestine(1)|lung(1)|stomach(2) 4 ATGGCAGAACACTTCTCACGT 0.542000 9 17 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 79 0 0 1 0 0 INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 9 23 --- --- --- --- MED25 81857 broad.mit.edu 37 19 50338834 50338834 + Frame_Shift_Del DEL A A - TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chr19:50338834delA ENST00000312865.6 + 15 1771 c.1718delA c.(1717-1719)ggfs p.E573fs MED25_ENST00000538643.1_Frame_Shift_Del_p.E360fs NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 573 Interaction with RARA.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CCCATTCTGGAGGACCAAGCC 0.667 2 4 --- --- --- --- MBTPS2 51360 broad.mit.edu 37 X 21857869 21857871 + In_Frame_Del DEL TGG TGG - TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chrX:21857869_21857871delTGG ENST00000365779.2 + 1 98_100 c.17_19delTGG c.(16-21)ctg>c p.LV6del MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 6 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 CCGGTGTCGCTGGTGGTGGTGGT 0.685 3 5 --- --- --- --- PCYT1B 9468 broad.mit.edu 37 X 24637194 24637195 + Frame_Shift_Del DEL GT GT - TCGA-QR-A6H2-01A-11D-A35D-08 TCGA-QR-A6H2-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9cc04779-bc1d-4dc1-8d3b-e2b2eca28e1b bb232599-25b5-450c-ad06-07c2393d0e15 g.chrX:24637194_24637195delGT ENST00000379145.1 - 2 114_115 c.70_71delAC c.(70-72)tfs p.T24fs PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.T42fs|PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.T42fs NM_001163264.1 NP_001156736.1 Q9Y5K3 PCY1B_HUMAN phosphate cytidylyltransferase 1, choline, beta 42 endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) GGCAGGTGCAGTCAGGGTCTAG 0.480 10 2 --- --- --- ---