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 OR4N5 390437 broad.mit.edu 37 14 20612596 20612596 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr14:20612596C>A uc010tla.2 + 0 702 c.702C>A c.(700-702)agC>agA p.S234R NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 234 S -> T (in dbSNP:rs10140908). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K233R(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AAGGAAAGAGCAAGGCTATTT 0.502000 60 164 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18505466 18505466 + Missense_Mutation SNP T T C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:18505466T>C uc001mor.3 - 7 934 c.794A>G c.(793-795)aAg>aGg p.K265R NM_006292 NP_006283 Q99816 TS101_HUMAN Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA. 265 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CTGGTGACCCTTTTTCAGGTC 0.438000 6 392 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39847746 39847746 + Silent SNP G G A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:39847746G>A uc021olw.1 + 19 9090 c.9090G>A c.(9088-9090)gaG>gaA p.E3030E MACF1_uc021ols.1_Silent_p.E2528E|MACF1_uc001cdc.2_Silent_p.E2507E|MACF1_uc021olt.1_Silent_p.E2528E|MACF1_uc001cda.1_Silent_p.E2415E NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 4595 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCTGATGGAGAAAGAACTGA 0.532000 3 64 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1225197 1225197 + Nonsense_Mutation SNP G G T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr12:1225197G>T uc001qjb.2 + 6 1808 c.1567G>T c.(1567-1569)Gag>Tag p.E523* ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Nonsense_Mutation_p.E495*|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Nonsense_Mutation_p.E523*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E271*|ERC1_uc009zdp.3_Nonsense_Mutation_p.E163* NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA. 523 I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CCTGCAGACTGAGGTAGAAAC 0.428000 47 115 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149676882 149676882 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr5:149676882C>A uc003lrv.2 - 1 2194 c.1605G>T c.(1603-1605)agG>agT p.R535S NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 535 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding p.G534W(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCTTCGAGCCCTCCCTTCCT 0.552000 109 161 0 0 1 0 0 NAA40 79829 broad.mit.edu 37 11 63720256 63720256 + Missense_Mutation SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:63720256C>T uc009yoz.3 + 5 566 c.439C>T c.(439-441)Cgg>Tgg p.R147W NAA40_uc010rmw.2_Missense_Mutation_p.R107W|NAA40_uc010rmx.2_Missense_Mutation_p.R126W|NAA40_uc010rmy.2_Non-coding_Transcript NM_024771 NP_079047 Q86UY6 NAA40_HUMAN Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA. 147 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 AAGCAAGGTGCGGCGGAAAGG 0.542000 4 118 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74975354 74975354 + Missense_Mutation SNP A A G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr14:74975354A>G uc001xqa.3 - 23 3992 c.3605T>C c.(3604-3606)cTg>cCg p.L1202P NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1202 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGGCGCGCACAGACAGAAGAA 0.627000 4 81 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133920500 133920500 + Missense_Mutation SNP G G C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr8:133920500G>C uc003ytw.3 + 17 3958 c.3917G>C c.(3916-3918)tGc>tCc p.C1306S TG_uc010mdw.3_Missense_Mutation_p.C65S NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1306 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGCAAGATGTGCAGTGCTGAC 0.597000 47 72 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129771 6129771 + Missense_Mutation SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:6129771C>A uc010qzx.2 + 0 763 c.763C>A c.(763-765)Ctc>Atc p.L255I NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCTCATCCTCTTCCACAC 0.478000 4 83 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275958 130275958 + Missense_Mutation SNP C C T TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr11:130275958C>T uc001qgg.4 - 8 2523 c.2165G>A c.(2164-2166)aGc>aAc p.S722N ADAMTS8_uc001qgf.3_Missense_Mutation_p.S203N NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 722 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ACCCGGGTGGCTCCGCTGCTT 0.542000 92 132 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409980 121409980 + Missense_Mutation SNP G G A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr3:121409980G>A uc010hrc.3 - 13 8357 c.8231C>T c.(8230-8232)tCt>tTt p.S2744F GOLGB1_uc003eei.4_Missense_Mutation_p.S2739F|GOLGB1_uc003eej.4_Missense_Mutation_p.S2705F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S2664F NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2739 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGAACTCATAGACCTTCCAAA 0.398000 6 176 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38775405 38775405 + Missense_Mutation SNP C C G TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr6:38775405C>G uc021yzh.1 + 23 3279 c.3170C>G c.(3169-3171)gCt>gGt p.A1057G DNAH8_uc003ooe.2_Missense_Mutation_p.A840G NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAGGTCTTTGCTTTTTTCTCT 0.343000 28 65 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725536 158725536 + Missense_Mutation SNP T T C TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr1:158725536T>C uc001fsw.1 + 0 931 c.931T>C c.(931-933)Ttt>Ctt p.F311L NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCTTGCTCCCTTTTTCAACCC 0.438000 3 135 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69331268 69331268 + Silent SNP C C A TCGA-CE-A3MD-01A-11D-A20C-08 TCGA-CE-A3MD-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 110e918d-199b-41f0-a655-4c3a1f6989c9 4cd738dc-c677-4206-a16e-f2977c086706 g.chr15:69331268C>A uc002ars.2 + 8 1484 c.1443C>A c.(1441-1443)atC>atA p.I481I MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I435I|NOX5_uc002arp.2_Silent_p.I463I|NOX5_uc010bid.2_Silent_p.I446I|NOX5_uc010bie.2_Silent_p.I281I|NOX5_uc002arr.2_Silent_p.I453I|NOX5_uc010bif.2_Intron NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 481 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 ATCTGAACATCCCCACCATTG 0.507000 100 210 0 0 1 0 0