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 TNXB 7148 broad.mit.edu 37 6 32037914 32037914 + Silent SNP G G A TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr6:32037914G>A uc003nzl.2 - 13 5470 c.5268C>T c.(5266-5268)gaC>gaT p.D1756D NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1838 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCGTGGTGCCGTCGGCAGTGA 0.617000 4 14 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141758106 141758106 + Missense_Mutation SNP T T C TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr7:141758106T>C uc003vwy.3 + 30 3851 c.3797T>C c.(3796-3798)aTg>aCg p.M1266T NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1266 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TATGATGAGATGGTGGCTGCC 0.498000 91 217 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578614 44578614 + Missense_Mutation SNP G G T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr7:44578614G>T uc003tlb.3 - 1 1438 c.1382C>A c.(1381-1383)gCa>gAa p.A461E NPC1L1_uc011kbw.2_Missense_Mutation_p.A461E|NPC1L1_uc003tlc.3_Missense_Mutation_p.A461E|NPC1L1_uc003tld.3_Missense_Mutation_p.A461E NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 461 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GTTGCGCTGTGCTTCGGGCGA 0.592000 7 42 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74300714 74300714 + Missense_Mutation SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr2:74300714C>T uc002skb.4 + 1 2128 c.2128C>T c.(2128-2130)Cac>Tac p.H710Y TET3_uc010fez.2_Missense_Mutation_p.H710Y NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 710 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATATTATACTCACTTGGGATC 0.413000 3 24 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106405640 106405640 + RNA SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr14:106405640C>T uc021ser.1 - 3033 c.50152G>A Parts of antibodies, mostly variable regions. GCCGTGTCCTCGGGAGTCACA 0.507000 57 140 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129200994 129200994 + Missense_Mutation SNP G G T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chrX:129200994G>T uc004evd.4 - 8 2079 c.1694C>A c.(1693-1695)aCc>aAc p.T565N ELF4_uc004eve.4_Missense_Mutation_p.T565N NM_001421 NP_001412 Q99607 ELF4_HUMAN Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA. 565 NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CTCCCTCAGGGTCTCTTCAGG 0.612000 T ERG AML 41 111 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3189629 3189629 + Silent SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr3:3189629C>T uc003bpp.4 + 7 1198 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L TRNT1_uc010hbv.3_Silent_p.L346L|TRNT1_uc003bpm.2_Non-coding_Transcript NM_182916 NP_886552 Q96Q11 TRNT1_HUMAN Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA. 366 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) ATGTGAACTACTGAAGTACCA 0.418000 21 60 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr12:25398284C>A uc001rgp.1 - 1 216 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript NM_033360 NP_203524 P01116 RASK_HUMAN Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA. 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway plasma membrane GTP binding|GTPase activity|protein binding p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 10 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77626739 77626739 + Nonsense_Mutation SNP C C T TCGA-EM-A2CQ-01A-11D-A17V-08 TCGA-EM-A2CQ-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a10ad75-164b-40d4-81c1-e77e26e959b1 c61db865-9f07-42b6-854f-73e37b642f25 g.chr3:77626739C>T uc003dpz.3 + 15 2957 c.2314C>T c.(2314-2316)Cag>Tag p.Q772* ROBO2_uc021xat.1_Nonsense_Mutation_p.Q784*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.Q768*|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc011bgk.2_Nonsense_Mutation_p.Q772* NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 768 Fibronectin type-III 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TCCAGATCACCAGAATGGAAT 0.483000 3 51 0 0 1 0 0