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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCA2 20 genome.wustl.edu 37 9 139907932 139907932 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 9 139907932 139907932 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.4531 p.E1511K 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC LEFTY2 7044 genome.wustl.edu 37 1 226127176 226127176 + Silent SNP G G A TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 1 226127176 226127176 G A SNP LEFTY2 ENST00000366820 human ensembl 70_37 -1 known silent c.622 p.L208 0.972 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC NR1H2 7376 genome.wustl.edu 37 19 50881965 50881965 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 19 50881965 50881965 C T SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.659 p.T220I 0.504 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC NYX 60506 genome.wustl.edu 37 X 41333611 41333611 + Missense_Mutation SNP C C T TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 X 41333611 41333611 C T SNP NYX ENST00000342595 human ensembl 70_37 +1 known missense c.905 p.S302L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC RNASEL 6041 genome.wustl.edu 37 1 182555093 182555093 + Silent SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 1 182555093 182555093 G C SNP RNASEL ENST00000367559 human ensembl 70_37 -1 known silent c.849 p.L283 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC SH2B1 25970 genome.wustl.edu 37 16 28877740 28877740 + Missense_Mutation SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 16 28877740 28877740 G C SNP SH2B1 ENST00000322610 human ensembl 70_37 +1 known missense c.325 p.E109Q 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC TMEM237 65062 genome.wustl.edu 37 2 202501582 202501582 + Missense_Mutation SNP G G C TCGA-MY-A5BF-01A-11D-A26G-09 TCGA-MY-A5BF-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa95dabb-5ce6-4379-a7be-300ceaedbd5c e1dd766d-8d09-4066-b1fa-535efff9dd32 2 202501582 202501582 G C SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.163 p.Q55E 0.627 NULL NULL - no_errors TMEM237 HGNC