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 EYA4 2070 broad.mit.edu 37 6 133802618 133802618 + Missense_Mutation SNP C C A TCGA-DJ-A4V0-01A-11D-A257-08 TCGA-DJ-A4V0-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0623e99e-5e86-4a2f-b418-13b9289ad3ec 7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476 g.chr6:133802618C>A uc011ecs.2 + 11 1322 c.1006C>A c.(1006-1008)Cag>Aag p.Q336K EYA4_uc011ecq.2_Missense_Mutation_p.Q276K|EYA4_uc011ecr.2_Missense_Mutation_p.Q282K|EYA4_uc003qec.4_Missense_Mutation_p.Q330K|EYA4_uc003qed.4_Missense_Mutation_p.Q330K|EYA4_uc003qee.4_Missense_Mutation_p.Q307K|BC041459_uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA. 330 DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CGATACCATGCAGAGTCCCTC 0.413000 13 100 0 0 1 0 0 TCERG1L 256536 broad.mit.edu 37 10 132944819 132944819 + Missense_Mutation SNP T T C TCGA-DJ-A4V0-01A-11D-A257-08 TCGA-DJ-A4V0-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0623e99e-5e86-4a2f-b418-13b9289ad3ec 7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476 g.chr10:132944819T>C uc001lkp.3 - 6 1225 c.1139A>G c.(1138-1140)aAc>aGc p.N380S TCERG1L_uc009yax.1_Non-coding_Transcript NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA. 380 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) AATGATCCTGTTGAGGTCTCC 0.542000 4 46 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36783808 36783808 + Missense_Mutation SNP T T C TCGA-DJ-A4V0-01A-11D-A257-08 TCGA-DJ-A4V0-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0623e99e-5e86-4a2f-b418-13b9289ad3ec 7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476 g.chr14:36783808T>C uc001wtm.2 - 3 569 c.481A>G c.(481-483)Aga>Gga p.R161G MBIP_uc001wto.2_Missense_Mutation_p.R161G|MBIP_uc010tpy.1_Missense_Mutation_p.R20G|MBIP_uc001wtn.2_Missense_Mutation_p.R161G NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA. 161 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) GATATTCGTCTGTCAATCTAC 0.338000 5 31 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27728639 27728639 + Silent SNP C C T TCGA-DJ-A4V0-01A-11D-A257-08 TCGA-DJ-A4V0-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0623e99e-5e86-4a2f-b418-13b9289ad3ec 7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476 g.chr2:27728639C>T uc002rky.3 + 9 871 c.805C>T c.(805-807)Ctg>Ttg p.L269L GCKR_uc010ezd.3_Silent_p.L269L|GCKR_uc010ylu.2_Silent_p.L79L NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 269 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CACCAAGATTCTGCTGGAAAC 0.532000 4 75 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12777488 12777488 + Frame_Shift_Del DEL C C - TCGA-DJ-A4V0-01A-11D-A257-08 TCGA-DJ-A4V0-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0623e99e-5e86-4a2f-b418-13b9289ad3ec 7c4bd7f5-84f4-42c0-9fc7-c37f8fdf8476 g.chr19:12777488delC uc002mub.2 - 0 104 c.28delG c.(28-30)gtcfs p.V10fs MAN2B1_uc010dyv.1_Frame_Shift_Del_p.V10fs|WDR83_uc002muc.3_5'Flank|WDR83_uc002mue.4_5'Flank NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 10 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGAGCGCAGACCCCCGAAGCC 0.721 2 4 --- --- --- ---