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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ARF4 0 genome.wustl.edu 37 3 57557144 57557144 + RNA SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 3 57557144 57557144 G A SNP ARF4 ENST00000489843 human ensembl 69_37n -1 known rna NULL NULL 0.056 - - - no_errors ARF4 HGNC ENSG00000168374 17 0 0.00 16 5 23.81 - - - ARFGEF2 0 genome.wustl.edu 37 20 47589751 47589751 + Missense_Mutation SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 20 47589751 47589751 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.1595 p.R532H 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 75 0 0.00 50 8 13.79 - - - ARPC5L 0 genome.wustl.edu 37 9 127631656 127631658 + In_Frame_Del DEL GGC GGC - TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 9 127631656 127631658 GGC - DEL ARPC5L ENST00000259477 human ensembl 69_37n +1 known in_frame_del c.87_89 p.A33in_frame_del 1.000:1.000:1.000 pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 16 0 0.00 2 2 50.00 - - - ATP2A1 0 genome.wustl.edu 37 16 28914702 28914703 + Frame_Shift_Del DEL CA CA - TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 16 28914702 28914703 CA - DEL ATP2A1 ENST00000357084 human ensembl 69_37n +1 known frame_shift_del c.2921_2922 p.L975fs 0.999:0.077 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 64 0 0.00 31 54 63.53 - - - ATP5A1 0 genome.wustl.edu 37 18 43667372 43667372 + Missense_Mutation SNP T T C TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 18 43667372 43667372 T C SNP ATP5A1 ENST00000282050 human ensembl 69_37n -1 known missense c.886 p.M296V 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 44 0 0.00 26 13 33.33 - - - C11orf89 0 genome.wustl.edu 37 11 1910628 1910628 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 11 1910628 1910628 C T SNP C11orf89 ENST00000391480 human ensembl 69_37n -1 known missense c.1187 p.R396Q 0.997 NULL NULL - no_errors C11orf89 HGNC ENSG00000184682 11 0 0.00 0 9 100.00 - - - C2orf62 0 genome.wustl.edu 37 2 219232516 219232516 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 2 219232516 219232516 C T SNP C2orf62 ENST00000289388 human ensembl 69_37n +1 known silent c.993 p.F331 0.999 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 68 0 0.00 28 4 12.50 - - - CALD1 0 genome.wustl.edu 37 7 134618585 134618585 + Missense_Mutation SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 7 134618585 134618585 G T SNP CALD1 ENST00000361675 human ensembl 69_37n +1 novel missense c.1065 p.E355D 0.003 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 45 0 0.00 14 10 41.67 - - - CHFR 0 genome.wustl.edu 37 12 133418072 133418072 + RNA SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 12 133418072 133418072 G A SNP CHFR ENST00000535527 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CHFR HGNC ENSG00000072609 21 0 0.00 17 9 34.62 - - - CNPY3 0 genome.wustl.edu 37 6 42897357 42897358 + In_Frame_Ins INS - - TGC TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 6 42897357 42897358 - TGC INS CNPY3 ENST00000372836 human ensembl 69_37n +1 known in_frame_ins c.49_50 p.21in_frame_insL 0.004:0.122 NULL pfam_DUF3456 - no_errors CNPY3 HGNC ENSG00000137161 48 0 0.00 41 11 21.15 - - - COL8A1 0 genome.wustl.edu 37 3 99513184 99513184 + Missense_Mutation SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 3 99513184 99513184 G A SNP COL8A1 ENST00000261037 human ensembl 69_37n +1 known missense c.439 p.G147R 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 33 0 0.00 30 9 23.08 - - - CUX1 0 genome.wustl.edu 37 7 101833121 101833121 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 7 101833121 101833121 C T SNP CUX1 ENST00000360264 human ensembl 69_37n +1 known missense c.1079 p.A360V 1.000 superfamily_LemA-like_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 24 0 0.00 14 11 44.00 - - - DDX11L9 0 genome.wustl.edu 37 15 102516922 102516922 + RNA SNP A A C TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 15 102516922 102516922 A C SNP DDX11L9 ENST00000559159 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors DDX11L9 HGNC ENSG00000248472 9 0 0.00 1 4 80.00 - - - DNAJB8-AS1 0 genome.wustl.edu 37 3 128182816 128182816 + RNA SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 3 128182816 128182816 G A SNP DNAJB8-AS1 ENST00000471626 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DNAJB8-AS1 HGNC ENSG00000242049 41 0 0.00 23 4 14.29 - - - FAM127A 0 genome.wustl.edu 37 X 134167432 134167432 + RNA SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 X 134167432 134167432 G A SNP FAM127A ENST00000464369 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM127A HGNC ENSG00000134590 67 0 0.00 13 6 31.58 - - - FAM45B 0 genome.wustl.edu 37 X 129630202 129630202 + RNA SNP T T C TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 X 129630202 129630202 T C SNP FAM45B ENST00000592932 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors FAM45B HGNC ENSG00000221930 28 0 0.00 2 6 75.00 - - - FAT2 0 genome.wustl.edu 37 5 150920247 150920247 + Missense_Mutation SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 5 150920247 150920247 G A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.8920 p.R2974C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 90 0 0.00 38 15 28.30 - - - FCRL5 0 genome.wustl.edu 37 1 157514865 157514865 + Silent SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 157514865 157514865 C A SNP FCRL5 ENST00000356953 human ensembl 69_37n -1 known silent c.315 p.L105 0.959 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 45 0 0.00 55 13 19.12 - - - GNG2 0 genome.wustl.edu 37 14 52433435 52433435 + RNA SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 14 52433435 52433435 G T SNP GNG2 ENST00000553299 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors GNG2 HGNC ENSG00000186469 42 0 0.00 25 4 13.79 - - - HIVEP1 0 genome.wustl.edu 37 6 12123074 12123074 + Missense_Mutation SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 6 12123074 12123074 G T SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known missense c.3046 p.A1016S 0.224 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 28 0 0.00 21 17 44.74 - - - HMCN1 0 genome.wustl.edu 37 1 186086699 186086699 + Missense_Mutation SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 186086699 186086699 C A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.11792 p.T3931N 0.792 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 26 0 0.00 44 15 25.42 - - - KIAA1211 0 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 69_37n +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 16 0 0.00 10 3 21.43 - - - LPA 0 genome.wustl.edu 37 6 161012001 161012001 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 6 161012001 161012001 C T SNP LPA ENST00000316300 human ensembl 69_37n -1 known silent c.3762 p.A1254 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 74 0 0.00 13 34 70.83 - - - LRFN2 0 genome.wustl.edu 37 6 40400151 40400151 + Frame_Shift_Del DEL G G - TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 6 40400151 40400151 G - DEL LRFN2 ENST00000338305 human ensembl 69_37n -1 known frame_shift_del c.702 p.L235fs 0.042 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 45 0 0.00 29 18 37.50 - - - MLL 0 genome.wustl.edu 37 11 118359386 118359386 + Nonsense_Mutation SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 11 118359386 118359386 G T SNP MLL ENST00000389506 human ensembl 69_37n +1 known nonsense c.4390 p.E1464* 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 111 0 0.00 14 67 82.72 - - - MRGPRX4 0 genome.wustl.edu 37 11 18195222 18195222 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 11 18195222 18195222 C T SNP MRGPRX4 ENST00000314254 human ensembl 69_37n +1 known missense c.419 p.A140V 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 95 0 0.00 62 14 18.42 - - - MTOR 0 genome.wustl.edu 37 1 11174931 11174931 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 11174931 11174931 C T SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.7103 p.R2368Q 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 45 0 0.00 25 7 21.88 - - - MYOM2 0 genome.wustl.edu 37 8 2024279 2024279 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 8 2024279 2024279 C T SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known silent c.1179 p.D393 0.970 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 50 0 0.00 15 7 31.82 - - - NHS 0 genome.wustl.edu 37 X 17746847 17746847 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 X 17746847 17746847 C T SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.4238 p.S1413F 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 46 0 0.00 11 11 50.00 - - - NLRC4 0 genome.wustl.edu 37 2 32475166 32475166 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 2 32475166 32475166 C T SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known silent c.1767 p.G589 0.983 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 48 0 0.00 31 8 20.51 - - - NSD1 0 genome.wustl.edu 37 5 176638368 176638368 + Nonsense_Mutation SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 5 176638368 176638368 G T SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known nonsense c.2968 p.E990* 0.104 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 15 0 0.00 6 7 53.85 - - - OR10K2 0 genome.wustl.edu 37 1 158390002 158390002 + Missense_Mutation SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 158390002 158390002 C A SNP OR10K2 ENST00000314902 human ensembl 69_37n -1 known missense c.655 p.V219F 0.165 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10K2 HGNC ENSG00000180708 61 0 0.00 60 12 16.67 - - - PBK 0 genome.wustl.edu 37 8 27685656 27685656 + Missense_Mutation SNP A A G TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 8 27685656 27685656 A G SNP PBK ENST00000301905 human ensembl 69_37n -1 known missense c.118 p.F40L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PBK HGNC ENSG00000168078 43 0 0.00 16 10 38.46 - - - POU4F3 0 genome.wustl.edu 37 5 145719176 145719176 + Silent SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 5 145719176 145719176 G A SNP POU4F3 ENST00000230732 human ensembl 69_37n +1 known silent c.186 p.A62 0.998 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU4F3 HGNC ENSG00000091010 71 0 0.00 40 5 11.11 - - - RNF114 0 genome.wustl.edu 37 20 48552965 48552965 + Missense_Mutation SNP C C G TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 20 48552965 48552965 C G SNP RNF114 ENST00000244061 human ensembl 69_37n +1 known missense c.16 p.R6G 0.000 NULL pfam_Di19_RING_finger_144,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF114 HGNC ENSG00000124226 8 0 0.00 4 4 50.00 - - - SLC1A2 0 genome.wustl.edu 37 11 35282449 35282449 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 11 35282449 35282449 C T SNP SLC1A2 ENST00000278379 human ensembl 69_37n -1 known missense c.1717 p.E573K 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 102 0 0.00 64 12 15.79 - - - SP6 0 genome.wustl.edu 37 17 45925439 45925439 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 17 45925439 45925439 C T SNP SP6 ENST00000342234 human ensembl 69_37n -1 known silent c.357 p.S119 0.704 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 46 0 0.00 53 6 10.17 - - - SPTAN1 0 genome.wustl.edu 37 9 131347092 131347092 + Missense_Mutation SNP A A G TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 9 131347092 131347092 A G SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.2530 p.T844A 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 99 0 0.00 64 22 25.58 - - - TENC1 0 genome.wustl.edu 37 12 53448060 53448060 + Missense_Mutation SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 12 53448060 53448060 C A SNP TENC1 ENST00000314276 human ensembl 69_37n +1 known missense c.387 p.F129L 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 47 0 0.00 20 23 53.49 - - - THEM5 0 genome.wustl.edu 37 1 151819760 151819760 + Missense_Mutation SNP G G C TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 151819760 151819760 G C SNP THEM5 ENST00000453881 human ensembl 69_37n -1 known missense c.619 p.P207A 0.057 NULL pfam_Thioestr_supf - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region THEM5 HGNC ENSG00000196407 29 0 0.00 42 7 14.29 - - - TLN1 0 genome.wustl.edu 37 9 35708476 35708476 + Silent SNP T T G TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 9 35708476 35708476 T G SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known silent c.4332 p.A1444 0.912 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 30 0 0.00 25 15 37.50 - - - TNK1 0 genome.wustl.edu 37 17 7288067 7288067 + Silent SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 17 7288067 7288067 G T SNP TNK1 ENST00000576812 human ensembl 69_37n +1 known silent c.1131 p.L377 0.341 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 79 0 0.00 31 4 11.43 - - - TP53I13 0 genome.wustl.edu 37 17 27899465 27899465 + Silent SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 17 27899465 27899465 C T SNP TP53I13 ENST00000301057 human ensembl 69_37n +1 known silent c.819 p.N273 0.389 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 30 0 0.00 23 7 23.33 - - - TUT1 0 genome.wustl.edu 37 11 62343518 62343518 + Missense_Mutation SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 11 62343518 62343518 C T SNP TUT1 ENST00000308436 human ensembl 69_37n -1 known missense c.1787 p.R596Q 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 37 0 0.00 15 18 54.55 - - - UGT3A2 0 genome.wustl.edu 37 5 36049459 36049460 + Frame_Shift_Ins INS - - A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 5 36049459 36049460 - A INS UGT3A2 ENST00000282507 human ensembl 69_37n -1 known frame_shift_ins c.375_374 p.L125fs 0.005:0.013 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 47 0 0.00 21 12 36.36 - - - UHRF1 0 genome.wustl.edu 37 19 4962030 4962031 + RNA DEL GG GG - TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 19 4962030 4962031 GG - DEL UHRF1 ENST00000262952 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 9 0 0.00 2 4 66.67 - - - UQCRC2 0 genome.wustl.edu 37 16 21979966 21979966 + Silent SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 16 21979966 21979966 G A SNP UQCRC2 ENST00000268379 human ensembl 69_37n +1 known silent c.630 p.Q210 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors UQCRC2 HGNC ENSG00000140740 111 0 0.00 137 18 11.61 - - - USP24 0 genome.wustl.edu 37 1 55591335 55591335 + Splice_Site SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 55591335 55591335 C A SNP USP24 ENST00000294383 human ensembl 69_37n -1 known splice_site c.3731+1 e33+1 1.000 - - - no_errors USP24 HGNC ENSG00000162402 41 0 0.00 27 3 10.00 - - - VWDE 0 genome.wustl.edu 37 7 12428917 12428917 + Missense_Mutation SNP G G T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 7 12428917 12428917 G T SNP VWDE ENST00000452576 human ensembl 69_37n -1 known missense c.311 p.P104H 1.000 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 43 0 0.00 19 4 17.39 - - - WSCD2 0 genome.wustl.edu 37 12 108603944 108603944 + Missense_Mutation SNP G G A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 12 108603944 108603944 G A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.544 p.G182S 1.000 pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 41 0 0.00 20 26 56.52 - - - ZMYM4 0 genome.wustl.edu 37 1 35852683 35852683 + Missense_Mutation SNP C C A TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 1 35852683 35852683 C A SNP ZMYM4 ENST00000314607 human ensembl 69_37n +1 known missense c.1916 p.T639K 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 63 0 0.00 25 7 21.88 - - - ZNF300P1 0 genome.wustl.edu 37 5 150311299 150311299 + RNA SNP C C T TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fafdb0f0-8793-4fa5-aad9-7edb0fe378a3 dd45289a-3543-448a-ad91-b35d282448f5 5 150311299 150311299 C T SNP ZNF300P1 ENST00000520773 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ZNF300P1 HGNC ENSG00000197083 55 0 0.00 30 4 11.76 - - -