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 AANAT 0 genome.wustl.edu 37 17 74466051 74466051 + Nonstop_Mutation SNP G G T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 17 74466051 74466051 G T SNP AANAT ENST00000250615 human ensembl 69_37n +1 known nonstop c.758 p.*253L 0.105 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors AANAT HGNC ENSG00000129673 63 0 0.00 67 39 36.79 - - - ACE 0 genome.wustl.edu 37 17 61557696 61557696 + Splice_Site SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 17 61557696 61557696 A T SNP ACE ENST00000290866 human ensembl 69_37n +1 known splice_site c.656-2 e5-2 0.990 - - - no_errors ACE HGNC ENSG00000159640 50 0 0 96 26 21.31 - - - ACSM2A 0 genome.wustl.edu 37 16 20492197 20492197 + Missense_Mutation SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 16 20492197 20492197 T C SNP ACSM2A ENST00000219054 human ensembl 69_37n +1 known missense c.1463 p.V488A 0.796 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 57 0 0.00 66 10 12.99 - - - ALDH1A2 0 genome.wustl.edu 37 15 58284996 58284996 + Silent SNP G G T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 15 58284996 58284996 G T SNP ALDH1A2 ENST00000249750 human ensembl 69_37n -1 known silent c.705 p.V235 0.986 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 30 0 0.00 59 18 23.38 - - - ANKRD30A 0 genome.wustl.edu 37 10 37422843 37422843 + Splice_Site SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 10 37422843 37422843 G A SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known splice_site c.450-1 e5-1 0.990 - - - no_errors ANKRD30A HGNC ENSG00000148513 94 0 0.00 87 47 35.07 - - - ANXA3 0 genome.wustl.edu 37 4 79500181 79500181 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 79500181 79500181 G C SNP ANXA3 ENST00000264908 human ensembl 69_37n +1 known missense c.104 p.G35A 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC ENSG00000138772 22 0 0.00 29 16 34.78 - - - ARHGAP19 0 genome.wustl.edu 37 10 99030411 99030411 + RNA SNP G G T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 10 99030411 99030411 G T SNP ARHGAP19 ENST00000479633 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ARHGAP19 HGNC ENSG00000213390 42 0 0.00 17 10 37.04 - - - ASXL3 0 genome.wustl.edu 37 18 31314329 31314329 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 18 31314329 31314329 G C SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.1032 p.K344N 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 35 0 0.00 47 16 25.00 - - - BPIFB4 0 genome.wustl.edu 37 20 31672753 31672753 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 20 31672753 31672753 G C SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known missense c.733 p.V245L 0.998 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N 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 60 0 0.00 67 31 31.63 - - - BTRC 0 genome.wustl.edu 37 10 103295142 103295142 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 10 103295142 103295142 G C SNP BTRC ENST00000370187 human ensembl 69_37n +1 known missense c.1379 p.R460T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 46 0 0.00 26 34 56.67 - - - C16orf78 0 genome.wustl.edu 37 16 49430463 49430463 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 16 49430463 49430463 G A SNP C16orf78 ENST00000299191 human ensembl 69_37n +1 known missense c.524 p.R175K 0.175 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 32 0 0.00 37 17 31.48 - - - C1orf116 0 genome.wustl.edu 37 1 207195857 207195857 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 207195857 207195857 G C SNP C1orf116 ENST00000359470 human ensembl 69_37n -1 known missense c.1252 p.P418A 0.083 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 21 0 0.00 43 13 23.21 - - - C20orf26 0 genome.wustl.edu 37 20 20269404 20269404 + Missense_Mutation SNP T T A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 20 20269404 20269404 T A SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known missense c.2948 p.F983Y 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 45 0 0.00 43 31 41.89 - - - C7orf62 0 genome.wustl.edu 37 7 88424169 88424169 + Missense_Mutation SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 7 88424169 88424169 A G SNP C7orf62 ENST00000297203 human ensembl 69_37n -1 known missense c.88 p.Y30H 1.000 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 72 0 0.00 69 22 24.18 - - - CADM1 0 genome.wustl.edu 37 11 115102163 115102163 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 115102163 115102163 C G SNP CADM1 ENST00000452722 human ensembl 69_37n -1 known missense c.472 p.E158Q 1.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM1 HGNC ENSG00000182985 137 0 0.00 96 20 17.24 - - - CCDC120 0 genome.wustl.edu 37 X 48922006 48922006 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 X 48922006 48922006 C G SNP CCDC120 ENST00000422185 human ensembl 69_37n +1 known missense c.430 p.R144G 0.981 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 22 0 0.00 25 8 24.24 - - - CCDC41 0 genome.wustl.edu 37 12 94729586 94729586 + RNA SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 94729586 94729586 G A SNP CCDC41 ENST00000546587 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CCDC41 HGNC ENSG00000173588 8 0 0.00 2 5 71.43 - - - CELA3B 0 genome.wustl.edu 37 1 22304463 22304463 + Silent SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 22304463 22304463 A G SNP CELA3B ENST00000374666 human ensembl 69_37n +1 known silent c.75 p.Q25 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_stop_codon:bad_bp_length_for_coding_region CELA3B HGNC ENSG00000219073 24 0 0.00 11 3 21.43 - - - CELSR3 0 genome.wustl.edu 37 3 48699704 48699704 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 3 48699704 48699704 C G SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known missense c.364 p.E122Q 0.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 81 0 0.00 52 30 36.59 - - - CEP250 0 genome.wustl.edu 37 20 34084421 34084421 + Silent SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 20 34084421 34084421 G C SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known silent c.3183 p.L1061 0.986 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 18 0 0.00 40 25 38.46 - - - CRYZ 0 genome.wustl.edu 37 1 75180309 75180309 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 75180309 75180309 C G SNP CRYZ ENST00000340866 human ensembl 69_37n -1 known missense c.434 p.C145S 0.008 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 53 0 0.00 56 16 22.22 - - - CSMD3 0 genome.wustl.edu 37 8 114031335 114031335 + Missense_Mutation SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 8 114031335 114031335 T C SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.991 p.S331G 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 56 0 0.00 74 19 20.43 - - - CYP4X1 0 genome.wustl.edu 37 1 47489663 47489663 + Silent SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 47489663 47489663 G A SNP CYP4X1 ENST00000371901 human ensembl 69_37n +1 known silent c.174 p.Q58 0.982 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 75 0 0.00 58 29 33.33 - - - DCAF11 0 genome.wustl.edu 37 14 24590084 24590084 + Missense_Mutation SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 14 24590084 24590084 A G SNP DCAF11 ENST00000446197 human ensembl 69_37n +1 known missense c.1130 p.Q377R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 36 0 0.00 57 7 10.94 - - - DEF8 0 genome.wustl.edu 37 16 90030911 90030911 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 16 90030911 90030911 G A SNP DEF8 ENST00000268676 human ensembl 69_37n +1 known missense c.1364 p.R455K 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 54 0 0.00 78 23 22.77 - - - DENND4A 0 genome.wustl.edu 37 15 65960402 65960402 + Nonsense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 15 65960402 65960402 G C SNP DENND4A ENST00000443035 human ensembl 69_37n -1 known nonsense c.4844 p.S1615* 0.999 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 60 0 0.00 65 20 23.53 - - - DNAH9 0 genome.wustl.edu 37 17 11593039 11593039 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 17 11593039 11593039 C G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.3900 p.C1300W 0.060 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 22 0 0.00 16 26 60.47 - - - DNAJC18 0 genome.wustl.edu 37 5 138778163 138778163 + RNA SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 5 138778163 138778163 G A SNP DNAJC18 ENST00000505268 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors DNAJC18 HGNC ENSG00000170464 45 0 0.00 60 7 10.45 - - - FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 71 0 0.00 47 39 45.35 - - - FGB 0 genome.wustl.edu 37 4 155487118 155487118 + Silent SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 155487118 155487118 T C SNP FGB ENST00000302068 human ensembl 69_37n +1 known silent c.273 p.D91 1.000 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGB HGNC ENSG00000171564 16 0 0.00 11 19 63.33 - - - FLNC 0 genome.wustl.edu 37 7 128491319 128491319 + Missense_Mutation SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 7 128491319 128491319 A G SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.5573 p.N1858S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 63 0 0.00 60 15 19.74 - - - FRY 0 genome.wustl.edu 37 13 32811953 32811953 + Missense_Mutation SNP A A G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 13 32811953 32811953 A G SNP FRY ENST00000380250 human ensembl 69_37n +1 known missense c.6248 p.E2083G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 13 0 0.00 24 22 47.83 - - - GOLGA8J 0 genome.wustl.edu 37 15 30437636 30437636 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 15 30437636 30437636 G A SNP GOLGA8J ENST00000569052 human ensembl 69_37n +1 novel missense c.1762 p.A588T 0.079 NULL NULL - no_errors RP5-1086D14.3 Clone_based_vega_gene ENSG00000261247 15 0 0.00 0 3 100.00 - - - GUCY2C 0 genome.wustl.edu 37 12 14829904 14829904 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 14829904 14829904 C T SNP GUCY2C ENST00000261170 human ensembl 69_37n -1 known missense c.832 p.D278N 0.527 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 48 0 0.00 48 17 26.15 - - - HK3 0 genome.wustl.edu 37 5 176308172 176308172 + Missense_Mutation SNP A A C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 5 176308172 176308172 A C SNP HK3 ENST00000292432 human ensembl 69_37n -1 known missense c.2674 p.C892G 0.995 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 27 0 0.00 31 15 32.61 - - - HSD17B7 0 genome.wustl.edu 37 1 162770091 162770091 + RNA SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 162770091 162770091 A T SNP HSD17B7 ENST00000470195 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HSD17B7 HGNC ENSG00000132196 49 0 0.00 41 60 59.41 - - - HSF2BP 0 genome.wustl.edu 37 21 45050302 45050302 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 21 45050302 45050302 G C SNP HSF2BP ENST00000291560 human ensembl 69_37n -1 known missense c.475 p.Q159E 0.716 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 35 0 0.00 33 10 23.26 - - - IGSF23 0 genome.wustl.edu 37 19 45117195 45117195 + Silent SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 19 45117195 45117195 G C SNP IGSF23 ENST00000592507 human ensembl 69_37n +1 putative silent c.18 p.V6 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IGSF23 HGNC ENSG00000216588 28 0 0.00 36 8 18.18 - - - IL29 0 genome.wustl.edu 37 19 39789125 39789125 + Missense_Mutation SNP T T G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 19 39789125 39789125 T G SNP IL29 ENST00000333625 human ensembl 69_37n +1 known missense c.572 p.L191R 0.008 NULL NULL - no_errors IL29 HGNC ENSG00000182393 90 0 0.00 131 16 10.88 - - - IMMP2L 0 genome.wustl.edu 37 7 111161425 111161425 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 7 111161425 111161425 C G SNP IMMP2L ENST00000331762 human ensembl 69_37n -1 known missense c.79 p.V27L 1.000 tigrfam_Pept_S26A_signal_pept_1 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 44 0 0.00 50 9 15.00 - - - KLC3 0 genome.wustl.edu 37 19 45851372 45851372 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 19 45851372 45851372 C G SNP KLC3 ENST00000470402 human ensembl 69_37n +1 known missense c.775 p.H259D 1.000 pfam_Rabaptin_Rab5-bd_dom,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC3 HGNC ENSG00000104892 78 0 0.00 68 25 26.88 - - - KRTAP10-3 0 genome.wustl.edu 37 21 45978529 45978529 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 21 45978529 45978529 C T SNP KRTAP10-3 ENST00000391620 human ensembl 69_37n -1 known missense c.70 p.E24K 1.000 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 63 0 0.00 76 11 12.64 - - - LGR5 0 genome.wustl.edu 37 12 71898466 71898466 + Splice_Site SNP G G T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 71898466 71898466 G T SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known splice_site c.284+1 e2+1 1.000 - - - no_errors LGR5 HGNC ENSG00000139292 58 0 0.00 83 12 12.63 - - - MEPCE 0 genome.wustl.edu 37 7 100028728 100028728 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 7 100028728 100028728 C T SNP MEPCE ENST00000310512 human ensembl 69_37n +1 known missense c.1087 p.R363C 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 35 0 0.00 20 30 57.69 - - - METAP1 0 genome.wustl.edu 37 4 99944097 99944097 + RNA SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 99944097 99944097 G A SNP METAP1 ENST00000506548 human ensembl 69_37n +1 known rna NULL NULL 0.986 - - - no_errors METAP1 HGNC ENSG00000164024 9 0 0.00 11 7 38.89 - - - MND1 0 genome.wustl.edu 37 4 154271274 154271274 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 154271274 154271274 C G SNP MND1 ENST00000240488 human ensembl 69_37n +1 known missense c.62 p.S21C 1.000 pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1 pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1 - no_errors MND1 HGNC ENSG00000121211 35 0 0.00 36 31 46.27 - - - MS4A10 0 genome.wustl.edu 37 11 60565929 60565929 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 60565929 60565929 C T SNP MS4A10 ENST00000308287 human ensembl 69_37n +1 known missense c.664 p.P222S 0.003 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 60 0 0.00 61 42 40.78 - - - MUC12 0 genome.wustl.edu 37 7 100643155 100643155 + Missense_Mutation SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 7 100643155 100643155 A T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.9740 p.K3247I 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 22 0 0.00 28 7 20.00 - - - MUC21 0 genome.wustl.edu 37 6 30955119 30955119 + Silent SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 6 30955119 30955119 A T SNP MUC21 ENST00000376296 human ensembl 69_37n +1 known silent c.1167 p.T389 0.074 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 52 0 0.00 52 8 13.33 - - - MUC4 0 genome.wustl.edu 37 3 195509449 195509449 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 3 195509449 195509449 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.9002 p.A3001V 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 35 0 0.00 29 7 19.44 - - - NLRP3 0 genome.wustl.edu 37 1 247587695 247587695 + Missense_Mutation SNP C C A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 247587695 247587695 C A SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.950 p.P317Q 0.003 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 13 0 0.00 17 20 54.05 - - - OR51A2 0 genome.wustl.edu 37 11 4976926 4976926 + Silent SNP T T A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 4976926 4976926 T A SNP OR51A2 ENST00000380371 human ensembl 69_37n -1 known silent c.18 p.T6 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 58 0 0.00 48 37 43.53 - - - OR5B3 0 genome.wustl.edu 37 11 58170355 58170355 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 58170355 58170355 G C SNP OR5B3 ENST00000309403 human ensembl 69_37n -1 known missense c.528 p.F176L 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 26 0 0.00 34 16 32.00 - - - OTOGL 0 genome.wustl.edu 37 12 80730698 80730698 + Missense_Mutation SNP T T G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 80730698 80730698 T G SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.4747 p.S1583A 0.061 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 35 0 0.00 22 8 26.67 - - - PDLIM5 0 genome.wustl.edu 37 4 95498545 95498545 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 95498545 95498545 C G SNP PDLIM5 ENST00000538141 human ensembl 69_37n +1 known missense c.312 p.S104R 0.268 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 23 0 0.00 36 29 44.62 - - - PINK1 0 genome.wustl.edu 37 1 20972049 20972049 + RNA SNP C C A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 20972049 20972049 C A SNP PINK1 ENST00000400490 human ensembl 69_37n +1 known rna NULL NULL 0.393 - - - no_errors PINK1 HGNC ENSG00000158828 51 0 0.00 40 21 34.43 - - - PIWIL1 0 genome.wustl.edu 37 12 130839167 130839167 + Missense_Mutation SNP C C A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 130839167 130839167 C A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known missense c.1130 p.P377Q 0.917 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 45 0 0.00 26 29 52.73 - - - PTPRA 0 genome.wustl.edu 37 20 2985753 2985753 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 20 2985753 2985753 G A SNP PTPRA ENST00000425918 human ensembl 69_37n +1 known missense c.823 p.E275K 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 95 0 0.00 116 30 20.55 - - - RASGRP2 0 genome.wustl.edu 37 11 64508450 64508450 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 64508450 64508450 C T SNP RASGRP2 ENST00000377494 human ensembl 69_37n -1 known missense c.341 p.R114Q 0.997 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 36 0 0.00 63 9 12.50 - - - RASSF5 0 genome.wustl.edu 37 1 206757788 206757788 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 206757788 206757788 G C SNP RASSF5 ENST00000355294 human ensembl 69_37n +1 known missense c.760 p.A254P 0.850 NULL pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 35 0 0.00 43 24 34.78 - - - RESP18 0 genome.wustl.edu 37 2 220197269 220197269 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 2 220197269 220197269 C G SNP RESP18 ENST00000333527 human ensembl 69_37n -1 putative missense c.209 p.G70A 0.055 NULL NULL - no_errors RESP18 HGNC ENSG00000182698 51 0 0.00 68 16 19.05 - - - RHPN1 0 genome.wustl.edu 37 8 144463488 144463488 + Nonsense_Mutation SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 8 144463488 144463488 A T SNP RHPN1 ENST00000289013 human ensembl 69_37n +1 known nonsense c.1462 p.K488* 0.001 pfam_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 36 0 0.00 69 28 28.87 - - - RPS6KA1 0 genome.wustl.edu 37 1 26887564 26887564 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 26887564 26887564 C T SNP RPS6KA1 ENST00000531382 human ensembl 69_37n +1 known missense c.1397 p.S466L 0.999 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 30 0 0.00 17 16 48.48 - - - RRNAD1 0 genome.wustl.edu 37 1 156704177 156704177 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 156704177 156704177 C G SNP RRNAD1 ENST00000368216 human ensembl 69_37n +1 known missense c.1013 p.T338S 0.992 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 51 0 0.00 118 23 16.08 - - - RYR2 0 genome.wustl.edu 37 1 237804204 237804204 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 237804204 237804204 G C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.7117 p.E2373Q 0.850 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 93 0 0.00 97 40 29.20 - - - SAGE1 0 genome.wustl.edu 37 X 134993474 134993474 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 X 134993474 134993474 G C SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.2129 p.R710T 0.002 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 54 0 0.00 68 32 32.00 - - - SI 0 genome.wustl.edu 37 3 164716431 164716431 + Silent SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 3 164716431 164716431 C T SNP SI ENST00000264382 human ensembl 69_37n -1 known silent c.4437 p.G1479 0.997 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 67 0 0.00 74 15 16.85 - - - SIGLEC1 0 genome.wustl.edu 37 20 3673310 3673310 + Nonsense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 20 3673310 3673310 G A SNP SIGLEC1 ENST00000419548 human ensembl 69_37n -1 known nonsense c.328 p.Q110* 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SIGLEC1 HGNC ENSG00000088827 62 0 0.00 54 34 38.64 - - - SIM1 0 genome.wustl.edu 37 6 100841736 100841736 + Silent SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 6 100841736 100841736 T C SNP SIM1 ENST00000262901 human ensembl 69_37n -1 known silent c.1197 p.E399 0.997 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors SIM1 HGNC ENSG00000112246 13 0 0.00 29 11 27.50 - - - SLC16A2 0 genome.wustl.edu 37 X 73744433 73744433 + Frame_Shift_Del DEL T T - TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 X 73744433 73744433 T - DEL SLC16A2 ENST00000276033 human ensembl 69_37n +1 known frame_shift_del c.1037 p.M348fs 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 98 0 0.00 92 40 30.30 - - - SLC2A13 0 genome.wustl.edu 37 12 40158269 40158269 + Silent SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 40158269 40158269 T C SNP SLC2A13 ENST00000280871 human ensembl 69_37n -1 known silent c.1713 p.T571 0.997 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 37 0 0.00 56 16 22.22 - - - SLC5A3 0 genome.wustl.edu 37 21 35469199 35469199 + Missense_Mutation SNP C C A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 21 35469199 35469199 C A SNP SLC5A3 ENST00000381151 human ensembl 69_37n +1 known missense c.1702 p.Q568K 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 32 0 0.00 41 11 21.15 - - - SLC6A8 0 genome.wustl.edu 37 X 152956984 152956984 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 X 152956984 152956984 G A SNP SLC6A8 ENST00000253122 human ensembl 69_37n +1 known missense c.620 p.R207Q 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_creatine pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 69 0 0.00 105 32 23.36 - - - SP1 0 genome.wustl.edu 37 12 53776138 53776138 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 53776138 53776138 C G SNP SP1 ENST00000327443 human ensembl 69_37n +1 known missense c.407 p.S136C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 27 0 0.00 44 7 13.73 - - - STARD6 0 genome.wustl.edu 37 18 51858148 51858148 + Missense_Mutation SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 18 51858148 51858148 T C SNP STARD6 ENST00000307844 human ensembl 69_37n -1 known missense c.349 p.I117V 0.023 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC ENSG00000174448 54 0 0.00 65 26 28.57 - - - SWT1 0 genome.wustl.edu 37 1 185173860 185173860 + Silent SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 185173860 185173860 G A SNP SWT1 ENST00000367500 human ensembl 69_37n +1 known silent c.1698 p.K566 0.000 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 32 0 0.00 59 12 16.90 - - - TANC1 0 genome.wustl.edu 37 2 160006963 160006963 + Nonsense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 2 160006963 160006963 C G SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known nonsense c.578 p.S193* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 62 0 0.00 22 18 45.00 - - - TATDN2 0 genome.wustl.edu 37 3 10291219 10291219 + Nonsense_Mutation SNP C C A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 3 10291219 10291219 C A SNP TATDN2 ENST00000287652 human ensembl 69_37n +1 known nonsense c.335 p.S112* 0.031 NULL pfam_TatD_superfamily - no_errors TATDN2 HGNC ENSG00000157014 12 0 0.00 24 9 27.27 - - - TECTA 0 genome.wustl.edu 37 11 121000467 121000467 + Missense_Mutation SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 11 121000467 121000467 A T SNP TECTA ENST00000264037 human ensembl 69_37n +1 known missense c.2488 p.I830L 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 61 0 0.00 32 36 52.94 - - - THAP1 0 genome.wustl.edu 37 8 42693372 42693372 + Silent SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 8 42693372 42693372 G A SNP THAP1 ENST00000254250 human ensembl 69_37n -1 known silent c.375 p.T125 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC ENSG00000131931 25 0 0.00 20 16 44.44 - - - TIAM1 0 genome.wustl.edu 37 21 32638444 32638444 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 21 32638444 32638444 G C SNP TIAM1 ENST00000286827 human ensembl 69_37n -1 known missense c.845 p.P282R 0.092 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 78 0 0.00 94 20 17.54 - - - TNIP3 0 genome.wustl.edu 37 4 122059806 122059806 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 122059806 122059806 G A SNP TNIP3 ENST00000057513 human ensembl 69_37n -1 known missense c.919 p.P307S 1.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 55 0 0.00 59 26 30.59 - - - TNIP3 0 genome.wustl.edu 37 4 122071373 122071373 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 4 122071373 122071373 G C SNP TNIP3 ENST00000057513 human ensembl 69_37n -1 known missense c.494 p.A165G 0.997 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 33 0 0.00 47 10 17.54 - - - TP53 0 genome.wustl.edu 37 17 7578462 7578464 + In_Frame_Del DEL GCG GCG - TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 17 7578462 7578464 GCG - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known in_frame_del c.468_466 p.R156in_frame_del 0.000:0.019:0.010 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 29 0 0.00 19 14 42.42 - - - TPH2 0 genome.wustl.edu 37 12 72355404 72355404 + Nonsense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 12 72355404 72355404 C G SNP TPH2 ENST00000546576 human ensembl 69_37n +1 known nonsense c.680 p.S227* 0.000 NULL pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C - no_errors TPH2 HGNC ENSG00000139287 78 0 0.00 104 20 16.13 - - - TRAPPC9 0 genome.wustl.edu 37 8 141468548 141468548 + Missense_Mutation SNP G G A TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 8 141468548 141468548 G A SNP TRAPPC9 ENST00000389328 human ensembl 69_37n -1 known missense c.116 p.A39V 0.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 82 0 0.00 133 25 15.62 - - - TRIP11 0 genome.wustl.edu 37 14 92474126 92474126 + Missense_Mutation SNP T T C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 14 92474126 92474126 T C SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.1385 p.D462G 0.002 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 70 0 0.00 30 61 67.03 - - - TSSC1 0 genome.wustl.edu 37 2 3357043 3357043 + Missense_Mutation SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 2 3357043 3357043 C T SNP TSSC1 ENST00000406835 human ensembl 69_37n -1 known missense c.178 p.V60I 0.004 NULL NULL - no_errors TSSC1 HGNC ENSG00000032389 83 0 0.00 81 31 27.68 - - - TTC39B 0 genome.wustl.edu 37 9 15190604 15190604 + Silent SNP T T G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 9 15190604 15190604 T G SNP TTC39B ENST00000512701 human ensembl 69_37n -1 known silent c.1053 p.A351 0.044 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 34 0 0.00 42 20 32.26 - - - UBAP2 0 genome.wustl.edu 37 9 33934266 33934266 + RNA SNP A A T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 9 33934266 33934266 A T SNP UBAP2 ENST00000474372 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UBAP2 HGNC ENSG00000137073 15 0 0.00 20 9 31.03 - - - UNC80 0 genome.wustl.edu 37 2 210742807 210742807 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 2 210742807 210742807 G C SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known missense c.3976 p.D1326H 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 30 0 0.00 60 9 12.68 - - - USP24 0 genome.wustl.edu 37 1 55589148 55589148 + Silent SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 55589148 55589148 C T SNP USP24 ENST00000294383 human ensembl 69_37n -1 known silent c.4248 p.T1416 0.029 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 36 0 0.00 41 24 36.36 - - - XIRP2 0 genome.wustl.edu 37 2 168107125 168107125 + Missense_Mutation SNP G G C TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 2 168107125 168107125 G C SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.9223 p.A3075P 0.004 superfamily_FH2_actin-bd pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 8 0 0.00 30 6 16.67 - - - ZC3H3 0 genome.wustl.edu 37 8 144550658 144550658 + Missense_Mutation SNP C C G TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 8 144550658 144550658 C G SNP ZC3H3 ENST00000262577 human ensembl 69_37n -1 known missense c.1999 p.E667Q 0.957 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 67 0 0.00 117 23 16.43 - - - ZDHHC8P1 0 genome.wustl.edu 37 22 23742579 23742579 + RNA SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 22 23742579 23742579 C T SNP ZDHHC8P1 ENST00000255890 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 9 0 0.00 13 16 55.17 - - - ZRANB2 0 genome.wustl.edu 37 1 71529633 71529633 + RNA SNP C C T TCGA-GM-A3XL-01A-11D-A22X-09 TCGA-GM-A3XL-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b27d75ba-5989-4200-bfe9-f1b7d7cf8008 90469bfb-140c-4856-be28-a9b04c183157 1 71529633 71529633 C T SNP ZRANB2 ENST00000477096 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 36 0 0.00 62 14 18.42 - - -