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 SETD1A 9739 broad.mit.edu 37 16 30983037 30983037 + Missense_Mutation SNP G G T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr16:30983037G>T ENST00000262519.8 + 13 4041 c.3355G>T c.(3355-3357)Gca>Tca p.A1119S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1119 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGCAAGGCCTGCAGGTAGGTG 0.577000 3 17 0.00024832 0.00024832 1 1 0 SETD2 29072 broad.mit.edu 37 3 47161862 47161862 + Missense_Mutation SNP G G C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr3:47161862G>C ENST00000409792.3 - 3 4306 c.4264C>G c.(4264-4266)Cag>Gag p.Q1422E NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1422 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTTCTGTCCTGAAGCTCACCA 0.438000 """N, F, S, Mis""" clear cell renal carcinoma 5 65 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287729 62287729 + Silent SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr11:62287729C>T ENST00000378024.4 - 5 14434 c.14160G>A c.(14158-14160)aaG>aaA p.K4720K AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4720 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCATGGAGATCTTGGGGGCTT 0.488000 35 222 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41186839 41186839 + Silent SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr19:41186839G>A ENST00000252891.4 - 6 690 c.523C>T c.(523-525)Ctg>Ttg p.L175L NUMBL_ENST00000598779.1_Silent_p.L134L|NUMBL_ENST00000540131.1_Silent_p.L134L NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 175 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) TTCAGTGCCAGAAAACAGTGG 0.572000 6 74 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318876 6318876 + Missense_Mutation SNP C C T rs138865075 TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:6318876C>T ENST00000264870.3 - 2 287 c.22G>A c.(22-24)Gcc>Acc p.A8T NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 8 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCTCCAAAGGCGGTCCTGGAA 0.468000 17 130 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229620 74229620 + Missense_Mutation SNP T T C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:74229620T>C ENST00000316292.9 - 1 1121 c.130A>G c.(130-132)Aag>Gag p.K44E EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 44 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GCAGCCTCCTTCTCAAATTTT 0.423000 4 132 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 5 54 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155569142 155569142 + Missense_Mutation SNP G G C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:155569142G>C ENST00000461783.3 + 22 4934 c.3661G>C c.(3661-3663)Gac>Cac p.D1221H TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1221 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGCTAAAACTGACAAAGCCTT 0.448000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 109 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128153427 128153427 + Missense_Mutation SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr10:128153427C>T ENST00000284694.7 - 4 1492 c.1372G>A c.(1372-1374)Gat>Aat p.D458N C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 458 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) AGACAGTCATCGCTTGGAGAG 0.488000 4 75 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155004226 155004226 + Silent SNP C C T TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chrX:155004226C>T ENST00000302805.2 + 2 1124 c.693C>T c.(691-693)ttC>ttT p.F231F NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 231 Cys-rich.|SPR. multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.F231F(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCTCCCTCTTCCTACCCTGCC 0.597000 4 123 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227387293 227387293 + Missense_Mutation SNP T T C rs146827361 byFrequency TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr1:227387293T>C ENST00000366769.3 - 4 1706 c.415A>G c.(415-417)Acc>Gcc p.T139A CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 139 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TAGTGCAAGGTTGTAATCCAT 0.289000 5 17 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52505584 52505584 + Missense_Mutation SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr14:52505584G>A ENST00000216286.5 - 9 2137 c.2138C>T c.(2137-2139)cCc>cTc p.P713L NID2_ENST00000541773.1_Missense_Mutation_p.P660L NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 713 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CGGGTGTCTGGGGGCGTGCCT 0.517000 6 47 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618714 618714 + Silent SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr11:618714G>A ENST00000358353.3 - 14 2167 c.1845C>T c.(1843-1845)ccC>ccT p.P615P CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Silent_p.P615P Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 615 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TTCCCATACCGGGGGGCATCG 0.662000 9 113 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 598916 598916 + Missense_Mutation SNP T T C TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr6:598916T>C ENST00000230449.4 - 9 1049 c.914A>G c.(913-915)gAt>gGt p.D305G EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 305 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTTTTCATAATCATTAATAAC 0.289000 21 105 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 56 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119739005 119739005 + Missense_Mutation SNP G G A TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr9:119739005G>A ENST00000313400.4 - 8 1751 c.1651C>T c.(1651-1653)Cgc>Tgc p.R551C ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C O75129 ASTN2_HUMAN astrotactin 2 551 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CAGTCACTGCGCACACACAGG 0.507000 5 43 0 0 1 0 0 OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 3 4 --- --- --- --- MTSS1L 92154 broad.mit.edu 37 16 70697852 70697852 + Frame_Shift_Del DEL C C - TCGA-QT-A69Q-01A-11D-A35D-08 TCGA-QT-A69Q-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx af53ef2a-743b-413a-8419-1a42630e4b18 6a8060c1-1226-43f0-8b93-e8bfc069275f g.chr16:70697852delC ENST00000338779.6 - 15 2246 c.1972delG c.(1972-1974)cafs p.A658fs FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 658 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCGGCCCCTGCCCCGGGGTAC 0.726 2 4 --- --- --- ---