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 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr7:140453134T>C uc003vwc.4 - 14 1862 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 43 66 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124361593 124361593 + Missense_Mutation SNP T T C TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr8:124361593T>C uc003yqh.4 - 13 1846 c.1738A>G c.(1738-1740)Ata>Gta p.I580V ATAD2_uc011lii.2_Missense_Mutation_p.I371V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I580V|Mir_548_uc022ban.1_5'Flank NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GCAGGATCTATAGAATCTAGC 0.408000 4 156 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39775722 39775722 + Missense_Mutation SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr8:39775722G>A uc003xnm.3 + 2 413 c.299G>A c.(298-300)cGt>cAt p.R100H NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 100 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GGAGATGTCCGTAAGGTTTGG 0.393000 4 111 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113234306 113234306 + Nonsense_Mutation SNP G G T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:113234306G>T uc001eck.3 + 5 1126 c.856G>T c.(856-858)Gag>Tag p.E286* MOV10_uc001ecl.2_Nonsense_Mutation_p.E286*|MOV10_uc001ecn.3_Nonsense_Mutation_p.E286*|MOV10_uc001ecm.3_Nonsense_Mutation_p.E226*|MOV10_uc009wgj.1_Nonsense_Mutation_p.E226* NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 286 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CTATGACCTGGAGTTAAGTAT 0.557000 66 79 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186295505 186295505 + Silent SNP T T C TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr4:186295505T>C uc003ixj.2 - 3 1253 c.441A>G c.(439-441)aaA>aaG p.K147K LRP2BP_uc003ixk.2_Silent_p.K121K NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN Homo sapiens LRP2 binding protein (LRP2BP), mRNA. 147 cytoplasm protein binding p.G146E(1) breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GTTTAACACCTTTTCCTTCAT 0.383000 3 132 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104139192 104139192 + Splice_Site SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr10:104139192G>A uc001kux.2 + 34 4936 c.4642_splice c.e34+1 p.G1548_splice GBF1_uc001kuy.2_Splice_Site_p.G1544_splice|GBF1_uc001kuz.2_Splice_Site_p.G1545_splice NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 1548 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TTACTGCAGGGTAAACCAGGA 0.582000 3 55 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53769225 53769225 + Missense_Mutation SNP G G T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr6:53769225G>T uc003pcd.1 + 9 1476 c.955G>T c.(955-957)Gca>Tca p.A319S NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA. 319 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CAACTTGAATGCAGACAGAAA 0.289000 3 82 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97063304 97063304 + Silent SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr9:97063304C>T uc004aum.1 + 4 1569 c.1464C>T c.(1462-1464)tgC>tgT p.C488C ZNF169_uc022bki.1_Silent_p.C489C NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 488 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) CTTATCTGTGCCCCAAGTGTG 0.562000 34 45 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42052945 42052945 + Missense_Mutation SNP A A G TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr22:42052945A>G uc003bao.1 + 9 1400 c.1330A>G c.(1330-1332)Agg>Ggg p.R444G XRCC6_uc003bap.1_Missense_Mutation_p.R403G|XRCC6_uc011apc.1_Missense_Mutation_p.R394G|XRCC6_uc003bar.2_Missense_Mutation_p.R444G NM_001469 NP_001460 P12956 XRCC6_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA. 444 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 TGATGATAAAAGGAAGATGCC 0.418000 Non-homologous end-joining 3 69 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648746 75648746 + Silent SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chrX:75648746G>A uc004ecm.2 + 0 701 c.423G>A c.(421-423)ccG>ccA p.P141P NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA. 141 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTCCAGGCCGCCCACTTCCT 0.677000 3 50 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580761 35580761 + Silent SNP C C A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:35580761C>A uc001bym.3 + 9 3476 c.3330C>A c.(3328-3330)gcC>gcA p.A1110A ZMYM1_uc001byn.3_Silent_p.A1110A|ZMYM1_uc010ohu.2_Silent_p.A1091A|ZMYM1_uc001byo.3_Silent_p.A750A|ZMYM1_uc009vut.3_Silent_p.A1035A NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 1110 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGGCCCAGCCCTAATGGCTG 0.383000 3 74 0 0 1 0 0 FOXP4 116113 broad.mit.edu 37 6 41557797 41557797 + Missense_Mutation SNP G G A TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr6:41557797G>A uc003oql.3 + 10 1704 c.1246G>A c.(1246-1248)Gca>Aca p.A416T FOXP4_uc003oqm.3_Missense_Mutation_p.A414T|FOXP4_uc003oqn.3_Missense_Mutation_p.A403T NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 416 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.A403T(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) GACCTCGGCCGCAGCCCCTGT 0.672000 3 49 0 0 1 0 0 GFI1 2672 broad.mit.edu 37 1 92941764 92941764 + Splice_Site SNP C C T TCGA-EM-A3O8-01A-11D-A21Z-08 TCGA-EM-A3O8-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 273fa499-61f1-44ac-b537-3f6d7fbba63a dfb338fd-ead0-4819-9fb3-5e701e5cf53d g.chr1:92941764C>T uc001dou.4 - 7 1255 c.1091_splice c.e7-1 p.G364_splice GFI1_uc001dov.4_Splice_Site_p.G364_splice|GFI1_uc001dow.4_Splice_Site_p.G364_splice NM_001127215 NP_005254 Q99684 GFI1_HUMAN Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA. 364 negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) AGGCTTCTCACCTGTGGGGAT 0.582000 4 21 0 0 1 0 0