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 ETAA1 54465 broad.mit.edu 37 2 67630066 67630066 + Missense_Mutation SNP G G T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:67630066G>T uc002sdz.1 + 3 641 c.502G>T c.(502-504)Gta>Tta p.V168L NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA. 168 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TACTCCCAGTGTAGCAAAAGG 0.353000 3 51 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70509259 70509259 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr16:70509259T>C uc010cft.3 + 18 2538 c.2480T>C c.(2479-2481)cTg>cCg p.L827P FUK_uc002eyy.3_Missense_Mutation_p.L795P|FUK_uc002eyz.3_Missense_Mutation_p.L286P NM_145059 NP_659496 Q8N0W3 FUK_HUMAN Homo sapiens fucokinase (FUK), mRNA. 795 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) GCAGGGGCCCTGCTGAAGGCG 0.627000 3 86 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75843113 75843113 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr6:75843113T>C uc021zbv.1 - 32 5725 c.5690A>G c.(5689-5691)tAt>tGt p.Y1897C COL12A1_uc021zbw.1_Missense_Mutation_p.Y733C|COL12A1_uc003phs.3_Missense_Mutation_p.Y1897C|COL12A1_uc003pht.3_Missense_Mutation_p.Y733C NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1897 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGAATGGCATAATTGGTATT 0.368000 17 39 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384958 219384958 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr1:219384958C>T uc001hlq.4 + 4 643 c.602C>T c.(601-603)aCg>aTg p.T201M LYPLAL1_uc001hlr.4_Missense_Mutation_p.T185M|LYPLAL1_uc001hls.4_Missense_Mutation_p.T77M|LYPLAL1_uc001hlt.4_Missense_Mutation_p.T77M|LYPLAL1_uc009xds.3_Missense_Mutation_p.T150M NM_138794 NP_620149 Q5VWZ2 LYPL1_HUMAN Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA. 201 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) GGAGTGACCACGAAGTTTCAT 0.373000 15 64 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9862838 9862838 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chrX:9862838A>G uc004csu.1 + 3 980 c.890A>G c.(889-891)aAt>aGt p.N297S NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 297 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGGAGGTCCAATTTTGGGCCA 0.612000 17 65 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5528997 5528997 + Missense_Mutation SNP T T C TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr11:5528997T>C uc001may.1 - 1 1878 c.1792A>G c.(1792-1794)Atg>Gtg p.M598V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc021qcw.1_Missense_Mutation_p.M598V NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 598 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTGCAGCATATGGAGAAAG 0.542000 59 40 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98155751 98155751 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr10:98155751C>T uc001kml.2 - 11 1652 c.1411G>A c.(1411-1413)Gat>Aat p.D471N TLL2_uc009xvf.2_Missense_Mutation_p.D449N NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 471 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TGACCGGCATCTTTGTTCATG 0.517000 OREG0020398 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 94 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780300 37780300 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr7:37780300C>T uc003tfm.1 + 0 305 c.305C>T c.(304-306)aCg>aTg p.T102M BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 102 integral to membrane|plasma membrane G-protein coupled receptor activity p.T102T(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ATGTACCTCACGTTCCTATTC 0.473000 22 78 0 0 1 0 0 C2orf83 56918 broad.mit.edu 37 2 228476316 228476316 + Missense_Mutation SNP C C T rs111332429 byFrequency TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:228476316C>T uc002vph.3 - 2 482 c.247G>A c.(247-249)Gta>Ata p.V83I C2orf83_uc010zlu.2_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA. 83 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 CATGTCTGTACGGTAAGTTTC 0.468000 6 55 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77311327 77311327 + Missense_Mutation SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr5:77311327G>A uc003kfj.3 - 25 3163 c.3038C>T c.(3037-3039)gCa>gTa p.A1013V NM_003664 NP_003655 O00203 AP3B1_HUMAN Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA. 1013 endocytosis|melanosome organization Golgi apparatus|clathrin coated vesicle membrane|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ATTCTGTGGTGCAGCAATGAT 0.383000 Hermansky-Pudlak syndrome 24 75 0 0 1 0 0 C14orf109 26175 broad.mit.edu 37 14 93652904 93652904 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr14:93652904A>G uc010auo.3 + 1 756 c.398A>G c.(397-399)aAa>aGa p.K133R MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc001ybk.4_Missense_Mutation_p.K95R|C14orf109_uc021sax.1_Missense_Mutation_p.K95R NM_001098621 NP_056491 Q8N6I4 CN109_HUMAN Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 1, mRNA. 127 integral to membrane kidney(1) 1 all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) GCTGATCCCAAAACAGTGGGC 0.418000 5 239 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1940261 1940261 + Silent SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr12:1940261G>A uc001qjt.2 + 3 1034 c.228G>A c.(226-228)ttG>ttA p.L76L CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.L76L|LRTM2_uc010sdx.1_Silent_p.L76L|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001157398 Q8N967 LRTM2_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA. 76 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TCTTGCTCTTGAACAATAAGC 0.642000 60 192 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103568560 103568560 + Missense_Mutation SNP C C T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr14:103568560C>T uc001ymk.3 + 1 576 c.500C>T c.(499-501)aCc>aTc p.T167I NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA. 167 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GCCTCGCGCACCTTTGAGCAG 0.657000 6 19 0 0 1 0 0 CNPY4 245812 broad.mit.edu 37 7 99720117 99720117 + Missense_Mutation SNP G G A TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr7:99720117G>A uc003uto.3 + 2 362 c.259G>A c.(259-261)Gaa>Aaa p.E87K TAF6_uc011kji.2_5'Flank NM_152755 NP_689968 Q8N129 CNPY4_HUMAN Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA. 87 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACAAGGCTGGAAGAGGCCTT 0.537000 53 249 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334209 39334209 + Missense_Mutation SNP A A G TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr17:39334209A>G uc002hwd.3 - 0 252 c.208T>C c.(208-210)Tgc>Cgc p.C70R NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA. 70 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GTCCTGCAGCAAGTGGTCTGG 0.672000 24 148 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 62934336 62934336 + Missense_Mutation SNP G G T TCGA-EM-A2OY-01A-11D-A202-08 TCGA-EM-A2OY-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca 0af5b0a2-abc5-4563-b111-e4058014700e g.chr2:62934336G>T uc002sby.3 + 1 492 c.10G>T c.(10-12)Gtt>Ttt p.V4F EHBP1_uc010fcp.3_Missense_Mutation_p.V4F|EHBP1_uc010fcq.1_Missense_Mutation_p.V4F|EHBP1_uc002sbx.2_Missense_Mutation_p.V4F|EHBP1_uc002sbz.3_Missense_Mutation_p.V4F|EHBP1_uc002scb.3_Missense_Mutation_p.V4F|EHBP1_uc002sca.3_Missense_Mutation_p.V4F NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA. 4 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) CATGGCTTCAGTTTGGAAGAG 0.463000 19 36 0 0 1 0 0