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 KBTBD10 10324 broad.mit.edu 37 2 170367329 170367329 + Silent SNP A A T TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr2:170367329A>T uc002ueu.1 + 0 1118 c.1041A>T c.(1039-1041)atA>atT p.I347I KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA. 347 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1) 19 AAAATCAGATATATGTGGTAG 0.413000 16 85 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65941716 65941716 + Nonsense_Mutation SNP G G T TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr17:65941716G>T uc002jgf.3 + 20 6953 c.6892G>T c.(6892-6894)Gaa>Taa p.E2298* BPTF_uc002jge.3_Nonsense_Mutation_p.E2424*|BPTF_uc021uca.1_Nonsense_Mutation_p.E98*|BPTF_uc002jgg.3_Nonsense_Mutation_p.E98*|BPTF_uc002jgh.3_5'Flank NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 2424 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GACTCAGCCTGAAGTTCAGAC 0.582000 3 19 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028059 100028059 + Missense_Mutation SNP C C T TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr7:100028059C>T uc003uuw.3 + 0 806 c.418C>T c.(418-420)Cgg>Tgg p.R140W ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 140 Gly-rich. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAGCCCCACCGGCCACCTGG 0.706000 4 9 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96794755 96794755 + Missense_Mutation SNP G G A TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr14:96794755G>A uc001yfi.3 - 13 2457 c.2092C>T c.(2092-2094)Cca>Tca p.P698S NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA. 698 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AGTTTCTGTGGTTGAAGCAAG 0.358000 10 51 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129526 149129526 + Missense_Mutation SNP G G A TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr7:149129526G>A uc003wfv.3 - 5 2000 c.1837C>T c.(1837-1839)Ccc>Tcc p.P613S NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GCGTGCTTGGGGTTGAACGTG 0.672000 42 66 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85536172 85536172 + Nonsense_Mutation SNP A A T TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr2:85536172A>T uc002soy.3 + 11 1579 c.1354A>T c.(1354-1356)Aag>Tag p.K452* NM_031283 NP_112573 Q9HCS4 TF7L1_HUMAN Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA. 452 Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CTCCAAGAGCAAGAAGCCATG 0.602000 112 160 0 0 1 0 0 SLC6A16 28968 broad.mit.edu 37 19 49812977 49812977 + Silent SNP G G A TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr19:49812977G>A uc002pmz.3 - 4 1041 c.807C>T c.(805-807)gtC>gtT p.V269V SLC6A16_uc002pna.3_Silent_p.V269V|MIR4324_uc021uxj.1_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA. 269 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGAAGGGCAGGACCAGACTGT 0.502000 23 43 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124951687 124951687 + Missense_Mutation SNP A A C TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr3:124951687A>C uc003ehx.4 - 8 2369 c.1883T>G c.(1882-1884)cTt>cGt p.L628R SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.L628R|ZNF148_uc010hsa.3_Missense_Mutation_p.L628R|ZNF148_uc003eia.4_Missense_Mutation_p.L628R|ZNF148_uc003ehy.3_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN Homo sapiens zinc finger protein 148 (ZNF148), mRNA. 628 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CACAAAGTTAAGGCTCGGGCT 0.453000 28 162 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr11:533874T>C uc001lpv.3 - 2 370 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 39 52 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43469775 43469775 + Missense_Mutation SNP T T C TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr18:43469775T>C uc002lbm.3 - 27 5040 c.4940A>G c.(4939-4941)gAa>gGa p.E1647G EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.E201G|EPG5_uc002lbn.2_Missense_Mutation_p.E522G NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 1647 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GATCAAGTTTTCTGCATGTAC 0.398000 50 69 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6230657 6230657 + Missense_Mutation SNP T T C TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr19:6230657T>C uc002mek.3 - 3 508 c.344A>G c.(343-345)aAc>aGc p.N115S NM_005934 NP_005925 Q03111 ENL_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA. 115 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding p.V114M(1)|p.N115K(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 GCGCAGGTGGTTCACGGGCGG 0.617000 T MLL AL 61 93 0 0 1 0 0 SLC24A6 80024 broad.mit.edu 37 12 113745553 113745553 + Missense_Mutation SNP G G A TCGA-ET-A39I-01A-11D-A19J-08 TCGA-ET-A39I-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9cc1725-7bdb-49a3-bbd7-b3cae63ef41d 18c8e8c6-9edf-4421-869c-bb7d800c659e g.chr12:113745553G>A uc001tvc.3 - 12 1564 c.1354C>T c.(1354-1356)Cgg>Tgg p.R452W SLC24A6_uc001tuz.3_Missense_Mutation_p.R157W|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.R190W NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 452 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 TTGCTCAGCCGGAAGACCACA 0.642000 3 45 0 0 1 0 0