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 OTOA 146183 broad.mit.edu 37 16 21726416 21726416 + Silent SNP C C T TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr16:21726416C>T uc002djh.3 + 12 1432 c.1431C>T c.(1429-1431)gcC>gcT p.A477A LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.A398A|OTOA_uc002dji.3_Silent_p.A153A|OTOA_uc010vbk.2_Silent_p.A125A NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA. 491 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TGAGAAGTGCCGTCTCCCAGT 0.577000 8 355 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216285470 216285470 + Missense_Mutation SNP C C G rs142165052 TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr2:216285470C>G uc002vfa.3 - 10 1867 c.1601G>C c.(1600-1602)cGt>cCt p.R534P FN1_uc002vfc.3_Missense_Mutation_p.R534P|FN1_uc002vfe.3_Missense_Mutation_p.R534P|FN1_uc002vff.3_Missense_Mutation_p.R534P|FN1_uc002vfg.3_Missense_Mutation_p.R534P|FN1_uc002vfh.3_Missense_Mutation_p.R534P|FN1_uc002vfi.3_Missense_Mutation_p.R534P|FN1_uc002vfj.3_Missense_Mutation_p.R534P|FN1_uc002vfb.3_Missense_Mutation_p.R534P|FN1_uc002vfl.3_Missense_Mutation_p.R534P NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 534 Collagen-binding.|Fibronectin type-I 8. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTTCATGACGCTTGTGGAA 0.478000 23 46 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118724002 118724002 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chrX:118724002G>A uc022cdk.1 - 3 1653 c.1431C>T c.(1429-1431)aaC>aaT p.N477N NKRF_uc004erq.3_Silent_p.N462N|NKRF_uc004err.3_Silent_p.N462N NM_001173487 NP_060014 O15226 NKRF_HUMAN Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA. 462 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CTGTCATTCGGTTAAACTGAG 0.433000 3 32 0 0 1 0 0 SETD6 79918 broad.mit.edu 37 16 58549787 58549787 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr16:58549787G>A uc002ens.3 + 1 179 c.120G>A c.(118-120)gtG>gtA p.V40V SETD6_uc010cdl.2_Silent_p.V40V|SETD6_uc021tjh.1_Intron|SETD6_uc002enr.3_Intron|SETD6_uc010cdm.3_Intron|SETD6_uc010vij.1_Intron NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA. 40 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 GTCCCAAGGTGAGCGAGCGAg 0.756000 4 13 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6696245 6696245 + Missense_Mutation SNP T T C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:6696245T>C uc001aof.2 - 14 1692 c.1586A>G c.(1585-1587)tAt>tGt p.Y529C DNAJC11_uc001aog.2_Missense_Mutation_p.Y477C|DNAJC11_uc010nzu.1_Missense_Mutation_p.Y439C NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA. 529 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CCGGAACTGATAGAGCACTTT 0.547000 22 55 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18111042 18111042 + Missense_Mutation SNP T T G TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr11:18111042T>G uc001mnq.3 - 6 655 c.605A>C c.(604-606)aAg>aCg p.K202T SAAL1_uc001mnr.3_Missense_Mutation_p.K202T NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA. 202 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 CTCCCCCACCTTCACCAGCAA 0.418000 11 29 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10106101 10106101 + Missense_Mutation SNP T T C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr3:10106101T>C uc003buw.3 + 21 2087 c.2009T>C c.(2008-2010)gTt>gCt p.V670A FANCD2_uc003bux.1_Missense_Mutation_p.V670A|FANCD2_uc003buy.1_Missense_Mutation_p.V670A|FANCD2_uc010hcw.1_Non-coding_Transcript NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 670 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GACTCCTGTGTTGTTCCGGAA 0.458000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 68 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947564 40947564 + Missense_Mutation SNP A A C TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr19:40947564A>C uc002onu.4 - 1 702 c.424T>G c.(424-426)Ttg>Gtg p.L142V SERTAD3_uc002onv.4_Missense_Mutation_p.L142V|SERTAD3_uc021uut.1_Missense_Mutation_p.L142V NM_013368 NP_976219 Q9UJW9 SRTD3_HUMAN Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA. 142 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGTCCCCCAAGTACCGGGAG 0.572000 27 44 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 78 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72640388 72640388 + Splice_Site SNP C C T rs76173977 byFrequency TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr15:72640388C>T uc010ukn.2 - 9 1313 c.1106_splice c.e9+1 p.T369_splice BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Intron|HEXA_uc002aun.4_Splice_Site_p.T358_splice|HEXA_uc010bix.3_Splice_Site_p.T358_splice|HEXA_uc010biy.2_Splice_Site_p.T221_splice|HEXA_uc010uko.1_Splice_Site_p.T184_splice NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 358 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 TCCTTCCTCACGTCTGGATGT 0.577000 8 22 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65319868 65319868 + Missense_Mutation SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr11:65319868G>A uc001oej.3 - 6 1465 c.1196C>T c.(1195-1197)cCg>cTg p.P399L LTBP3_uc010roi.2_Missense_Mutation_p.P282L|LTBP3_uc001oei.3_Missense_Mutation_p.P399L|LTBP3_uc010roj.2_Missense_Mutation_p.P100L|LTBP3_uc010rok.1_Missense_Mutation_p.P310L|U7_uc021qll.1_5'Flank NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. 399 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CTTCTCCTCCGGTTTGTCTGC 0.667000 OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 68 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81952594 81952594 + Silent SNP G G A TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr4:81952594G>A uc003hmg.4 + 0 476 c.156G>A c.(154-156)ccG>ccA p.P52P NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 52 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 AGCTGCAGCCGCAAGACAAGG 0.672000 3 44 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012561 148012562 + Frame_Shift_Del DEL AT AT - TCGA-J8-A3O0-01A-11D-A21A-08 TCGA-J8-A3O0-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca22d305-a5d7-4e5a-acfd-dce09605603f f079ecfe-3c20-4338-9e12-408dab097c66 g.chr1:148012561_148012562delAT uc001eqq.3 - 11 1429_1430 c.1397_1398delAT c.(1396-1398)tatfs p.Y466fs NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc021owc.1_Frame_Shift_Del_p.Y133fs|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Non-coding_Transcript|NBPF14_uc021owg.1_Frame_Shift_Del_p.Y621fs|NBPF14_uc021owh.1_Frame_Shift_Del_p.Y377fs|NBPF14_uc010pad.1_5'Flank|NBPF14_uc021owd.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 466 NBPF 5. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGGAACTTCCATAGGGCTGGCA 0.470 2 4 --- --- --- ---