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 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 57 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 49 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 3 43 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148933289 148933289 + RNA SNP A A G rs9729175 by1000genomes TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr1:148933289A>G ENST00000539543.1 + 0 176 NR_027355.2 TGCTGCCCGCAGGATATTGTG 0.562000 5 14 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116649764 116649764 + Silent SNP C C T TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr11:116649764C>T ENST00000227322.3 - 14 1316 c.1257G>A c.(1255-1257)gcG>gcA p.A419A NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 419 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) CATCTTCAGGCGCATACACAT 0.522000 4 65 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 52 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 37 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-FD-A43S-01A-21D-A23U-08 TCGA-FD-A43S-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3eff03c-3a3d-44a7-bda5-b5059929f2f0 6e689853-c084-4517-ac60-9f35f020e41f g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)ctgdel p.L591del SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 9 93 --- --- --- ---