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 UVSSA 57654 broad.mit.edu 37 4 1374010 1374010 + Missense_Mutation SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr4:1374010C>T uc003gde.4 + 10 2191 c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W UVSSA_uc010ibv.3_Missense_Mutation_p.R133W NM_020894 NP_065945 Q2YD98 K1530_HUMAN Homo sapiens KIAA1530 (KIAA1530), mRNA. 582 GCGCCAAGACCGGCTGAAGGT 0.716000 3 23 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832438 4832438 + Missense_Mutation SNP G G A TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr1:4832438G>A uc001alm.1 + 3 1397 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q AJAP1_uc001aln.3_Missense_Mutation_p.R339Q NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 339 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCCTCGGCCCGGGTGCCCAGC 0.617000 4 43 0 0 1 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600480 3600480 + Silent SNP G G A TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr19:3600480G>A uc021umv.1 - 1 540 c.153C>T c.(151-153)ggC>ggT p.G51G TBXA2R_uc002lyg.2_Silent_p.G51G NM_201636 NP_963998 P21731 TA2R_HUMAN Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant b, mRNA. 51 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CCTGCCGCGCGCCCGCCAGCA 0.706000 7 19 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106552349 106552349 + RNA SNP G G C TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr14:106552349G>C uc021ser.1 - 1994 c.36818C>G Parts of antibodies, mostly variable regions. CAGATACAGGGAGTTCTTGGC 0.502000 75 140 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120169033 120169033 + Missense_Mutation SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr11:120169033C>T uc010rzk.2 + 3 342 c.7C>T c.(7-9)Cct>Tct p.P3S POU2F3_uc021qrk.1_Silent_p.H66H|POU2F3_uc001pxc.3_Silent_p.H64H|POU2F3_uc010rzl.2_5'UTR Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 1, mRNA. 0 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GGCCATGCCACCTGAGTCAAG 0.537000 61 151 0 0 1 0 0 GNAO1 2775 broad.mit.edu 37 16 56309933 56309933 + Silent SNP C C T TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr16:56309933C>T uc002eit.4 + 2 1149 c.252C>T c.(250-252)atC>atT p.I84I GNAO1_uc002eiu.4_Silent_p.I84I NM_138736 NP_620073 P09471 GNAO_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA. 84 G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) TGGCAGCCATCGTCCGGGCCA 0.502000 12 44 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65743407 65743407 + Missense_Mutation SNP T T G TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr15:65743407T>G uc002aov.3 - 18 4082 c.2504A>C c.(2503-2505)aAt>aCt p.N835T DPP8_uc002aow.3_Missense_Mutation_p.N835T|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.N819T|DPP8_uc002aox.3_Missense_Mutation_p.N819T|DPP8_uc002aoy.3_Missense_Mutation_p.N784T|DPP8_uc002aoz.3_Missense_Mutation_p.N719T|DPP8_uc010bhj.3_Missense_Mutation_p.N835T|DPP8_uc010bhi.3_Missense_Mutation_p.N138T NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA. 835 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAAATGGACATTCTCATCCAG 0.358000 37 78 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122612090 122612090 + Missense_Mutation SNP T T G TCGA-DJ-A4V5-01A-11D-A257-08 TCGA-DJ-A4V5-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 303e4531-b4c2-4f91-84ba-6246bd119c87 a9b59b90-c24f-48a9-b818-31a9eb1e2d87 g.chr10:122612090T>G uc021pzt.1 + 1 387 c.141T>G c.(139-141)gaT>gaG p.D47E LOC283089_uc001lfb.1_5'Flank|WDR11_uc010qte.2_Missense_Mutation_p.D47E|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN Homo sapiens WD repeat domain 11 (WDR11), mRNA. 47 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 TAGTGATTGATTCCATTACTG 0.368000 15 22 0 0 1 0 0