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 ACTL9 0 genome.wustl.edu 37 19 8808096 8808096 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 19 8808096 8808096 G T SNP ACTL9 ENST00000324436 human ensembl 69_37n -1 known missense c.956 p.A319D 0.947 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 59 0 0.00 11 21 65.62 - - - ACY1 0 genome.wustl.edu 37 3 52023054 52023054 + Frame_Shift_Del DEL C C - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 3 52023054 52023054 C - DEL ACY1 ENST00000458031 human ensembl 69_37n +1 known frame_shift_del c.1460 p.A489fs 0.996 tigrfam_N-acyl_aa_amidohydrolase pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase - no_errors ACY1 HGNC ENSG00000243989 52 0 0.00 13 2 13.33 - - - ADH1C 0 genome.wustl.edu 37 4 100266200 100266200 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 4 100266200 100266200 C T SNP ADH1C ENST00000515683 human ensembl 69_37n -1 known missense c.386 p.R129K 0.000 NULL NULL - pseudogene ADH1C HGNC ENSG00000248144 93 0 0.00 97 30 23.62 - - - AFF4 0 genome.wustl.edu 37 5 132228739 132228739 + Silent SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 132228739 132228739 C T SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known silent c.2379 p.K793 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 391 1 0.25 109 150 57.92 - - - AKD1 0 genome.wustl.edu 37 6 109827530 109827530 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 6 109827530 109827530 C G SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.4849 p.G1617R 1.000 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 188 0 0.00 55 44 44.44 - - - ALG2 0 genome.wustl.edu 37 9 101980329 101980329 + Missense_Mutation SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 9 101980329 101980329 G A SNP ALG2 ENST00000476832 human ensembl 69_37n -1 known missense c.1138 p.P380S 1.000 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 127 0 0.00 20 62 75.61 - - - ASB2 0 genome.wustl.edu 37 14 94420823 94420823 + Silent SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 14 94420823 94420823 C T SNP ASB2 ENST00000315988 human ensembl 69_37n -1 known silent c.174 p.A58 0.322 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 32 0 0.00 12 9 42.86 - - - ASB7 0 genome.wustl.edu 37 15 101169774 101169774 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 15 101169774 101169774 A G SNP ASB7 ENST00000332783 human ensembl 69_37n +1 known missense c.344 p.N115S 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 227 0 0.00 421 86 16.93 - - - BAZ1A 0 genome.wustl.edu 37 14 35243682 35243682 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 14 35243682 35243682 C G SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.2848 p.D950H 0.994 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 174 0 0.00 135 63 31.66 - - - BPIFB4 0 genome.wustl.edu 37 20 31685561 31685561 + Missense_Mutation SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 20 31685561 31685561 G A SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known missense c.1537 p.D513N 0.912 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 88 0 0.00 72 38 34.55 - - - CARD6 0 genome.wustl.edu 37 5 40843565 40843565 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 40843565 40843565 A G SNP CARD6 ENST00000254691 human ensembl 69_37n +1 known missense c.595 p.R199G 0.793 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 149 0 0.00 137 61 30.81 - - - CCDC102B 0 genome.wustl.edu 37 18 66721311 66721311 + Silent SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 18 66721311 66721311 G A SNP CCDC102B ENST00000319445 human ensembl 69_37n +1 known silent c.1479 p.L493 0.994 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 266 0 0.00 86 92 51.69 - - - CCDC144A 0 genome.wustl.edu 37 17 16638380 16638380 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 16638380 16638380 C G SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.2795 p.T932R 1.000 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 130 0 0.00 56 53 48.62 - - - CFP 0 genome.wustl.edu 37 X 47485756 47485756 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 X 47485756 47485756 C T SNP CFP ENST00000247153 human ensembl 69_37n -1 known missense c.1103 p.R368Q 0.499 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 41 0 0.00 14 9 39.13 - - - COL19A1 0 genome.wustl.edu 37 6 70637830 70637830 + Missense_Mutation SNP A A T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 6 70637830 70637830 A T SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.296 p.E99V 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 273 0 0.00 249 145 36.80 - - - CYP26B1 0 genome.wustl.edu 37 2 72359509 72359509 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 2 72359509 72359509 G C SNP CYP26B1 ENST00000001146 human ensembl 69_37n -1 known missense c.1386 p.S462R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 19 0 0.00 7 5 41.67 - - - DNA2 0 genome.wustl.edu 37 10 70231738 70231738 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 10 70231738 70231738 C T SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.142 p.V48I 0.000 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 31 0 0.00 7 9 56.25 - - - DZANK1 0 genome.wustl.edu 37 20 18446022 18446022 + Splice_Site SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 20 18446022 18446022 C A SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known splice_site c.1-1 e1-1 0.000 - - - no_errors DZANK1 HGNC ENSG00000089091 26 0 0.00 27 11 28.95 - - - FAM65C 0 genome.wustl.edu 37 20 49221293 49221293 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 20 49221293 49221293 G T SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.975 p.S325R 0.952 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 27 0 0.00 14 4 22.22 - - - FAT3 0 genome.wustl.edu 37 11 92623767 92623767 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 92623767 92623767 C T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.13258 p.R4420W 0.950 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 63 0 0.00 47 18 27.69 - - - FZD3 0 genome.wustl.edu 37 8 28409124 28409124 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 8 28409124 28409124 C T SNP FZD3 ENST00000240093 human ensembl 69_37n +1 known missense c.1409 p.T470I 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD3 HGNC ENSG00000104290 130 1 0.76 119 49 29.17 - - - GBGT1 0 genome.wustl.edu 37 9 136029012 136029012 + Frame_Shift_Del DEL C C - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 9 136029012 136029012 C - DEL GBGT1 ENST00000372040 human ensembl 69_37n -1 known frame_shift_del c.996 p.I333fs 1.000 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GBGT1 HGNC ENSG00000148288 25 0 0.00 9 7 41.18 - - - GOLGA1 0 genome.wustl.edu 37 9 127700866 127700866 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 9 127700866 127700866 C G SNP GOLGA1 ENST00000373555 human ensembl 69_37n -1 known missense c.125 p.G42A 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 159 0 0.00 77 23 23.00 - - - HERC1 0 genome.wustl.edu 37 15 64050494 64050494 + Missense_Mutation SNP A A C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 15 64050494 64050494 A C SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.1101 p.I367M 0.996 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 128 0 0.00 89 42 32.06 - - - HIST2H3D 0 genome.wustl.edu 37 1 149784867 149784867 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 149784867 149784867 C A SNP HIST2H3D ENST00000331491 human ensembl 69_37n -1 known missense c.370 p.D124Y 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 54 0 0.00 29 9 23.68 - - - HIST2H3D 0 genome.wustl.edu 37 1 149784868 149784868 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 149784868 149784868 C A SNP HIST2H3D ENST00000331491 human ensembl 69_37n -1 known missense c.369 p.K123N 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 57 0 0.00 29 9 23.68 - - - HRNR 0 genome.wustl.edu 37 1 152185557 152185557 + Nonsense_Mutation SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 152185557 152185557 G A SNP HRNR ENST00000368801 human ensembl 69_37n -1 known nonsense c.8548 p.Q2850* 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 75 0 0.00 39 16 29.09 - - - HSPA12A 0 genome.wustl.edu 37 10 118439273 118439273 + Splice_Site SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 10 118439273 118439273 C T SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known splice_site c.1028-1 e10-1 1.000 - - - no_errors HSPA12A HGNC ENSG00000165868 143 0 0.00 108 51 32.08 - - - ITK 0 genome.wustl.edu 37 5 156635917 156635917 + Silent SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 156635917 156635917 G A SNP ITK ENST00000422843 human ensembl 69_37n +1 known silent c.156 p.K52 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 117 0 0.00 22 34 60.71 - - - KCNT2 0 genome.wustl.edu 37 1 196227573 196227573 + Nonsense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 196227573 196227573 C A SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known nonsense c.2962 p.E988* 0.999 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 223 0 0.00 213 86 28.76 - - - KIAA1551 0 genome.wustl.edu 37 12 32137221 32137221 + Nonsense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 12 32137221 32137221 C G SNP KIAA1551 ENST00000312561 human ensembl 69_37n +1 known nonsense c.3332 p.S1111* 0.584 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 157 0 0.00 161 85 34.55 - - - KIAA1586 0 genome.wustl.edu 37 6 56919137 56919137 + Missense_Mutation SNP A A C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 6 56919137 56919137 A C SNP KIAA1586 ENST00000370733 human ensembl 69_37n +1 known missense c.1840 p.M614L 0.004 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 151 0 0.00 128 35 21.47 - - - KIF24 0 genome.wustl.edu 37 9 34255843 34255843 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 9 34255843 34255843 G T SNP KIF24 ENST00000443226 human ensembl 69_37n -1 putative missense c.616 p.Q206K 0.980 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF24 HGNC ENSG00000186638 73 0 0.00 52 22 29.73 - - - KIR3DL2 0 genome.wustl.edu 37 19 55363521 55363521 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 19 55363521 55363521 C T SNP KIR3DL2 ENST00000326321 human ensembl 69_37n +1 known missense c.139 p.L47F 0.004 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL2 HGNC ENSG00000240403 89 0 0.00 41 29 41.43 - - - LECT2 0 genome.wustl.edu 37 5 135286901 135286901 + Silent SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 135286901 135286901 A G SNP LECT2 ENST00000514447 human ensembl 69_37n -1 putative silent c.300 p.G100 0.036 NULL NULL - no_errors LECT2 HGNC ENSG00000145826 170 0 0.00 52 54 50.94 - - - MAP1A 0 genome.wustl.edu 37 15 43813802 43813802 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 15 43813802 43813802 C A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.131 p.P44Q 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 113 0 0.00 65 39 37.50 - - - MCM3 0 genome.wustl.edu 37 6 52129521 52129521 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 6 52129521 52129521 G T SNP MCM3 ENST00000421471 human ensembl 69_37n -1 known missense c.928 p.H310N 0.987 NULL pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase - no_start_codon MCM3 HGNC ENSG00000112118 352 0 0.00 310 106 25.48 - - - MIIP 0 genome.wustl.edu 37 1 12081867 12081867 + Silent SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 12081867 12081867 G A SNP MIIP ENST00000235332 human ensembl 69_37n +1 known silent c.84 p.V28 0.448 NULL NULL - no_errors MIIP HGNC ENSG00000116691 8 0 0.00 3 6 66.67 - - - MIR622 0 genome.wustl.edu 37 13 90883513 90883513 + RNA SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 13 90883513 90883513 G T SNP MIR622 ENST00000385123 human ensembl 69_37n +1 known rna NULL NULL 0.112 - - - no_errors MIR622 HGNC ENSG00000207858 85 0 0.00 44 23 34.33 - - - MUC5B 0 genome.wustl.edu 37 11 1270826 1270826 + Missense_Mutation SNP T T C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 1270826 1270826 T C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.12725 p.M4242T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 8 0 0.00 0 3 100.00 - - - MYO19 0 genome.wustl.edu 37 17 34856996 34856997 + Frame_Shift_Ins INS - - A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 34856996 34856997 - A INS MYO19 ENST00000431794 human ensembl 69_37n -1 known frame_shift_ins c.2160_2159 p.Q720fs 0.000:0.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO19 HGNC ENSG00000141140 71 0 0.00 28 26 48.15 - - - NBPF9 0 genome.wustl.edu 37 1 144827878 144827879 + In_Frame_Ins INS - - AGG TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 144827878 144827879 - AGG INS NBPF9 ENST00000375552 human ensembl 69_37n +1 known in_frame_ins c.1757_1758 p.587in_frame_insG 0.025:0.025 NULL pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBPF9 HGNC ENSG00000168614 11 0 0.00 28 7 20.00 - - - NCF2 0 genome.wustl.edu 37 1 183556064 183556064 + Missense_Mutation SNP A A C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 183556064 183556064 A C SNP NCF2 ENST00000367535 human ensembl 69_37n -1 known missense c.223 p.F75V 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 323 0 0.00 299 78 20.69 - - - NDNF 0 genome.wustl.edu 37 4 121958353 121958353 + Missense_Mutation SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 4 121958353 121958353 G A SNP NDNF ENST00000379692 human ensembl 69_37n -1 known missense c.773 p.P258L 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 183 0 0.00 110 19 14.73 - - - NF1 0 genome.wustl.edu 37 17 29496956 29496958 + In_Frame_Del DEL ATA ATA - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 29496956 29496958 ATA - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known in_frame_del c.527_529 p.DI176in_frame_delV 1.000:1.000:1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 111 0 0.00 62 26 28.89 - - - NF1 0 genome.wustl.edu 37 17 29496963 29496964 + Frame_Shift_Del DEL AT AT - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 29496963 29496964 AT - DEL NF1 ENST00000358273 human ensembl 69_37n +1 known frame_shift_del c.534_535 p.E178fs 1.000:1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 106 0 0.00 58 27 31.76 - - - NLRP11 0 genome.wustl.edu 37 19 56320649 56320649 + Missense_Mutation SNP T T C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 19 56320649 56320649 T C SNP NLRP11 ENST00000443188 human ensembl 69_37n -1 known missense c.1327 p.K443E 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 364 0 0.00 175 111 38.81 - - - NRXN3 0 genome.wustl.edu 37 14 79423678 79423678 + Nonsense_Mutation SNP T T G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 14 79423678 79423678 T G SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known nonsense c.2336 p.L779* 0.956 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 209 0 0.00 143 69 32.55 - - - ODF2 0 genome.wustl.edu 37 9 131246284 131246284 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 9 131246284 131246284 A G SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known missense c.1055 p.Q352R 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 113 1 0.88 33 52 61.18 - - - OR4X1 0 genome.wustl.edu 37 11 48286093 48286093 + Silent SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 48286093 48286093 C T SNP OR4X1 ENST00000320048 human ensembl 69_37n +1 known silent c.681 p.N227 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 235 0 0.00 138 83 37.56 - - - OR52K2 0 genome.wustl.edu 37 11 4471319 4471319 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 4471319 4471319 C G SNP OR52K2 ENST00000325719 human ensembl 69_37n +1 known missense c.750 p.I250M 0.678 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 2295 0 0.00 517 391 42.97 - - - PACS1 0 genome.wustl.edu 37 11 65998376 65998376 + Missense_Mutation SNP A A T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 65998376 65998376 A T SNP PACS1 ENST00000320580 human ensembl 69_37n +1 known missense c.1591 p.S531C 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 167 0 0.00 122 39 24.22 - - - PCDHAC1 0 genome.wustl.edu 37 5 140306692 140306692 + Frame_Shift_Del DEL G G - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 140306692 140306692 G - DEL PCDHAC1 ENST00000253807 human ensembl 69_37n +1 known frame_shift_del c.215 p.S72fs 0.809 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 60 0 0.00 7 7 50.00 - - - PCDHGB4 0 genome.wustl.edu 37 5 140768682 140768682 + Nonsense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 140768682 140768682 G T SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known nonsense c.1231 p.E411* 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 205 0 0.00 36 24 40.00 - - - PLEKHG3 0 genome.wustl.edu 37 14 65207860 65207860 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 14 65207860 65207860 A G SNP PLEKHG3 ENST00000394691 human ensembl 69_37n +1 known missense c.1625 p.E542G 0.388 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 24 0 0.00 7 4 36.36 - - - PTCHD4 0 genome.wustl.edu 37 6 47847116 47847116 + Silent SNP T T C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 6 47847116 47847116 T C SNP PTCHD4 ENST00000339488 human ensembl 69_37n -1 known silent c.1464 p.G488 0.969 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 78 0 0.00 92 68 42.50 - - - PTPRN2 0 genome.wustl.edu 37 7 157370811 157370811 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 7 157370811 157370811 C T SNP PTPRN2 ENST00000404321 human ensembl 69_37n -1 known missense c.2587 p.V863M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 36 0 0.00 7 13 65.00 - - - RASGEF1A 0 genome.wustl.edu 37 10 43697381 43697381 + Frame_Shift_Del DEL A A - TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 10 43697381 43697381 A - DEL RASGEF1A ENST00000395809 human ensembl 69_37n -1 known frame_shift_del c.334 p.S112fs 0.986 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 10 0 0.00 4 2 33.33 - - - RBL1 0 genome.wustl.edu 37 20 35651110 35651110 + Silent SNP T T C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 20 35651110 35651110 T C SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known silent c.2502 p.L834 0.713 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 100 0 0.00 63 27 30.00 - - - RCC1 0 genome.wustl.edu 37 1 28856409 28856410 + Frame_Shift_Ins INS - - C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 28856409 28856410 - C INS RCC1 ENST00000373831 human ensembl 69_37n +1 known frame_shift_ins c.31_32 p.A14fs 0.985:0.987 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 22 0 0.00 7 2 22.22 - - - RFPL3 0 genome.wustl.edu 37 22 32756346 32756346 + Missense_Mutation SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 22 32756346 32756346 G A SNP RFPL3 ENST00000249007 human ensembl 69_37n +1 known missense c.481 p.E161K 0.011 superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 89 0 0.00 122 42 25.45 - - - RGAG1 0 genome.wustl.edu 37 X 109697417 109697417 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 X 109697417 109697417 C A SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.3572 p.S1191Y 1.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 511 0 0.00 202 107 34.63 - - - RGS1 0 genome.wustl.edu 37 1 192548335 192548335 + Missense_Mutation SNP T T G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 192548335 192548335 T G SNP RGS1 ENST00000367459 human ensembl 69_37n +1 known missense c.513 p.F171L 0.998 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS1 HGNC ENSG00000090104 368 0 0.00 437 61 12.25 - - - SELE 0 genome.wustl.edu 37 1 169702097 169702097 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 169702097 169702097 G C SNP SELE ENST00000333360 human ensembl 69_37n -1 known missense c.80 p.S27C 0.843 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EGF-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 129 0 0.00 130 28 17.72 - - - SF1 0 genome.wustl.edu 37 11 64536769 64536769 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 64536769 64536769 G C SNP SF1 ENST00000377390 human ensembl 69_37n -1 known missense c.705 p.D235E 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 86 0 0.00 72 28 28.00 - - - SF3B4 0 genome.wustl.edu 37 1 149895561 149895562 + Frame_Shift_Ins INS - - G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 149895561 149895562 - G INS SF3B4 ENST00000271628 human ensembl 69_37n -1 known frame_shift_ins c.1148_1147 p.H383fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 16 0 0.00 8 3 27.27 - - - SLIT3 0 genome.wustl.edu 37 5 168112908 168112909 + Frame_Shift_Ins INS - - G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 5 168112908 168112909 - G INS SLIT3 ENST00000519560 human ensembl 69_37n -1 known frame_shift_ins c.3339_3338 p.P1114fs 0.135:0.999 NULL pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 36 0 0.00 20 3 13.04 - - - SNORD79 0 genome.wustl.edu 37 1 173834509 173834509 + RNA SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 173834509 173834509 C G SNP SNORD79 ENST00000363859 human ensembl 69_37n -1 known rna NULL NULL 0.022 - - - no_errors SNORD79 HGNC ENSG00000200729 42 0 0.00 20 8 28.57 - - - SNX32 0 genome.wustl.edu 37 11 65617722 65617722 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 11 65617722 65617722 G C SNP SNX32 ENST00000308342 human ensembl 69_37n +1 known missense c.354 p.K118N 0.998 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX32 HGNC ENSG00000172803 105 0 0.00 36 49 57.65 - - - TCHH 0 genome.wustl.edu 37 1 152084837 152084837 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 152084837 152084837 G T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.856 p.L286M 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 115 0 0.00 47 41 46.59 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 125 0 0.00 35 55 61.11 - - - TROAP 0 genome.wustl.edu 37 12 49717812 49717812 + Missense_Mutation SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 12 49717812 49717812 C T SNP TROAP ENST00000257909 human ensembl 69_37n +1 known missense c.329 p.A110V 0.007 NULL NULL - no_errors TROAP HGNC ENSG00000135451 148 0 0.00 34 64 65.31 - - - TRPV2 0 genome.wustl.edu 37 17 16326990 16326990 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 16326990 16326990 C A SNP TRPV2 ENST00000338560 human ensembl 69_37n +1 known missense c.833 p.A278D 0.025 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 89 0 0.00 12 15 55.56 - - - TSR1 0 genome.wustl.edu 37 17 2239717 2239717 + Missense_Mutation SNP G G T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 2239717 2239717 G T SNP TSR1 ENST00000301364 human ensembl 69_37n -1 known missense c.5 p.A2E 0.998 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 12 0 0.00 0 7 100.00 - - - TTN 0 genome.wustl.edu 37 2 179640141 179640141 + Missense_Mutation SNP C C A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 2 179640141 179640141 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.6450 p.M2150I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 221 1 0.45 258 76 22.69 - - - USP1 0 genome.wustl.edu 37 1 62910521 62910521 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 1 62910521 62910521 A G SNP USP1 ENST00000339950 human ensembl 69_37n +1 known missense c.670 p.K224E 0.954 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 98 0 0.00 83 38 31.40 - - - WSCD1 0 genome.wustl.edu 37 17 6023829 6023829 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 17 6023829 6023829 G C SNP WSCD1 ENST00000317744 human ensembl 69_37n +1 known missense c.1576 p.G526R 1.000 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 63 0 0.00 6 13 68.42 - - - XPOT 0 genome.wustl.edu 37 12 64815088 64815088 + Missense_Mutation SNP G G C TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 12 64815088 64815088 G C SNP XPOT ENST00000332707 human ensembl 69_37n +1 known missense c.917 p.W306S 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 171 0 0.00 63 84 57.14 - - - ZNF224 0 genome.wustl.edu 37 19 44611903 44611903 + Silent SNP C C T TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 19 44611903 44611903 C T SNP ZNF224 ENST00000336976 human ensembl 69_37n +1 known silent c.1590 p.H530 0.125 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF224 HGNC ENSG00000267680 370 0 0.00 254 125 32.98 - - - ZNF718 0 genome.wustl.edu 37 4 155760 155760 + RNA SNP G G A TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 47849ee3-b59e-4ccf-a261-65f7e252b885 2f79e4ef-5112-4d70-8320-ca2148b47621 4 155760 155760 G A SNP ZNF718 ENST00000400172 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF718 HGNC ENSG00000250312 139 0 0.00 29 66 69.47 - - -