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 CEP152 22995 broad.mit.edu 37 15 49054838 49054838 + Missense_Mutation SNP T T C TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr15:49054838T>C uc001zwz.3 - 17 2505 c.2312A>G c.(2311-2313)aAg>aGg p.K771R CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 771 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGCCACTCCTTTTCAAGCTG 0.338 ABCC1 4363 broad.mit.edu 37 16 16101808 16101808 + Nonsense_Mutation SNP C C T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr16:16101808C>T uc010bvi.3 + 1 359 c.184C>T c.(184-186)Cga>Tga p.R62* ABCC1_uc010bvj.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.R62*|ABCC1_uc002del.4_5'Flank NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 62 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCGACATGACCGAGGCTACAT 0.537 B4GALT6 9331 broad.mit.edu 37 18 29225320 29225320 + Missense_Mutation SNP T T C TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr18:29225320T>C uc002kwz.4 - 3 766 c.469A>G c.(469-471)Aag>Gag p.K157E B4GALT6_uc010dma.3_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.3_Missense_Mutation_p.K157E NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA. 157 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding p.K157E(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TACCTCACCTTCCATCTGGGT 0.378 FRG1B 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr20:29625955A>T uc010ztl.1 + 1 141 c.109A>T c.(109-111)Aga>Tga p.R37* FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338 DVL3 1857 broad.mit.edu 37 3 183884692 183884692 + Missense_Mutation SNP G G A TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr3:183884692G>A uc003fms.3 + 10 1267 c.1127G>A c.(1126-1128)gGc>gAc p.G376D DVL3_uc011bqw.2_Missense_Mutation_p.G359D|DVL3_uc003fmt.3_Missense_Mutation_p.G47D|DVL3_uc003fmu.3_Missense_Mutation_p.G208D NM_004423 NP_004414 Q92997 DVL3_HUMAN Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA. 376 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCTGCATACGGCATGAGCCCC 0.647 FAT4 79633 broad.mit.edu 37 4 126372195 126372195 + Nonsense_Mutation SNP C C T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr4:126372195C>T uc003ifj.4 + 8 10024 c.10024C>T c.(10024-10026)Cga>Tga p.R3342* FAT4_uc011cgp.2_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 3342 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R3342Q(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGGTAATAGTCGAAAGAAGGG 0.408 CCDC110 256309 broad.mit.edu 37 4 186380647 186380647 + Missense_Mutation SNP C C T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr4:186380647C>T uc003ixu.4 - 5 1170 c.1094G>A c.(1093-1095)gGc>gAc p.G365D CCDC110_uc003ixv.4_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA. 365 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) AATATTTTTGCCAGTGATGGG 0.323 POM121C 100101267 broad.mit.edu 37 7 75051383 75051383 + Missense_Mutation SNP C C T TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr7:75051383C>T uc003udk.4 - 12 3037 c.2152G>A c.(2152-2154)Gcc>Acc p.A718T NM_001099415 NP_001092885 A8CG34 P121C_HUMAN Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA. 960 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GCTGGCTTGGCGGCCCCCGGT 0.662 PAX5 5079 broad.mit.edu 37 9 37020696 37020696 + Missense_Mutation SNP C C A TCGA-06-0165-01A-01D-1491-08 TCGA-06-0165-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1728988e-0877-4194-92c5-92c1ee6c5f5b e27b2def-4e82-4c29-bbf1-51d4fffda600 g.chr9:37020696C>A uc003zzo.1 - 1 597 c.149G>T c.(148-150)aGg>aTg p.R50M PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN Homo sapiens paired box 5 (PAX5), mRNA. 50 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GTCGCAGGGCCTGACACCTTG 0.542 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL"""