Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val ZBTB46 0 genome.wustl.edu 37 20 62384159 62384159 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 20 62384159 62384159 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.1278 p.S426 0.494 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 60 0 0.00 75 15 16.67 53 0 0.00 39 9 18.75 AMFR 0 genome.wustl.edu 37 16 56438907 56438907 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 16 56438907 56438907 C T SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.754 p.G252R 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 tier1 rs187472781 GMAF=0.0005 75 0 0.00 65 91 58.33 154 0 0.00 92 161 63.64 SLC25A35 0 genome.wustl.edu 37 17 8194200 8194200 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 17 8194200 8194200 C T SNP SLC25A35 ENST00000577745 human ensembl 74_37 -1 known missense c.689 p.C230Y 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 tier1 - - 54 0 0.00 98 53 35.10 51 0 0.00 53 41 43.62 RALGPS1 0 genome.wustl.edu 37 9 129796752 129796752 + Missense_Mutation SNP C C G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 9 129796752 129796752 C G SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known missense c.259 p.L87V 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 tier1 - - 61 0 0.00 83 15 15.31 140 0 0.00 132 25 15.92 DYRK4 0 genome.wustl.edu 37 12 4677210 4677210 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 4677210 4677210 C T SNP DYRK4 ENST00000539701 human ensembl 74_37 +1 known missense c.128 p.A43V 0.000 NULL NULL - no_errors DYRK4 HGNC ENSG00000010219 tier1 - - 13 0 0.00 13 4 23.53 93 0 0.00 49 32 39.51 GKAP1 0 genome.wustl.edu 37 9 86354626 86354626 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 9 86354626 86354626 C T SNP GKAP1 ENST00000376371 human ensembl 74_37 -1 known missense c.1087 p.D363N 1.000 NULL NULL - no_errors GKAP1 HGNC ENSG00000165113 tier1 - - 50 0 0.00 64 8 11.11 84 0 0.00 55 16 21.92 AMFR 0 genome.wustl.edu 37 16 56438954 56438954 + Splice_Site SNP C C G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 16 56438954 56438954 C G SNP AMFR ENST00000290649 human ensembl 74_37 -1 known splice_site c.708-1 e6-1 1.000 - - - no_errors AMFR HGNC ENSG00000159461 tier1 - - 81 0 0.00 70 89 55.62 142 0 0.00 99 140 58.58 TBC1D4 0 genome.wustl.edu 37 13 75861109 75861109 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 13 75861109 75861109 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.3716 p.T1239M 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 tier1 - - 77 0 0.00 49 7 12.50 168 0 0.00 91 27 22.88 EPB41L3 0 genome.wustl.edu 37 18 5415858 5415858 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 18 5415858 5415858 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2026 p.A676T 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 34 0 0.00 29 6 17.14 77 0 0.00 72 15 17.05 CCDC134 0 genome.wustl.edu 37 22 42205909 42205909 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 22 42205909 42205909 C T SNP CCDC134 ENST00000255784 human ensembl 74_37 +1 known missense c.130 p.R44W 0.934 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 tier1 - - 37 0 0.00 46 12 20.69 83 0 0.00 23 12 34.29 GALNTL6 0 genome.wustl.edu 37 4 173734827 173734827 + Silent SNP C C A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 4 173734827 173734827 C A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known silent c.876 p.I292 0.973 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 23 0 0.00 23 8 25.81 95 1 1.04 37 10 21.28 NLRP4 0 genome.wustl.edu 37 19 56370443 56370443 + Missense_Mutation SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 19 56370443 56370443 G T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1684 p.D562Y 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 69 0 0.00 76 36 32.14 156 0 0.00 104 35 25.18 SPRY3 0 genome.wustl.edu 37 X 155003566 155003566 + Missense_Mutation SNP A A T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 X 155003566 155003566 A T SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.33 p.Q11H 0.998 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 tier1 - - 93 0 0.00 112 34 23.29 57 0 0.00 65 32 32.99 RGPD4 0 genome.wustl.edu 37 2 108479404 108479404 + Splice_Site SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 2 108479404 108479404 G T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known splice_site c.2386-1 e17-1 1.000 - - - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 137 0 0.00 168 31 15.58 16 0 0.00 19 3 13.64 HNF1A 0 genome.wustl.edu 37 12 121416794 121416794 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 121416794 121416794 G A SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known missense c.223 p.D75N 1.000 pfam_HNF-1_N pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 24 0 0.00 64 22 25.58 54 0 0.00 158 29 15.51 PARK2 0 genome.wustl.edu 37 6 162864388 162864388 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 6 162864388 162864388 C T SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.125 p.R42H 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 41 0 0.00 67 14 17.28 85 1 1.16 79 13 14.13 SULF1 0 genome.wustl.edu 37 8 70533467 70533467 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 8 70533467 70533467 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.1575 p.L525 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 29 0 0.00 17 6 25.00 130 0 0.00 83 19 18.63 PREP 0 genome.wustl.edu 37 6 105821433 105821433 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 6 105821433 105821433 C T SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.406 p.G136S 1.000 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 tier1 - - 36 0 0.00 44 19 30.16 75 0 0.00 89 21 18.92 UHRF1BP1L 0 genome.wustl.edu 37 12 100453644 100453644 + Missense_Mutation SNP T T G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 100453644 100453644 T G SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.1727 p.D576A 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 41 0 0.00 360 122 25.31 121 0 0.00 773 272 25.98 PRB2 0 genome.wustl.edu 37 12 11546647 11546647 + Missense_Mutation SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 11546647 11546647 G T SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.365 p.P122H 0.680 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 179 1 0.56 147 31 17.42 33 0 0.00 26 7 21.21 ATRX 0 genome.wustl.edu 37 X 76937963 76937963 + Nonsense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 X 76937963 76937963 G A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.2785 p.Q929* 0.205 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 22 0 0.00 12 9 42.86 50 0 0.00 13 25 64.10 MUC17 0 genome.wustl.edu 37 7 100678114 100678114 + Silent SNP T T C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 7 100678114 100678114 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.3417 p.S1139 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 95 0 0.00 87 24 21.62 36 0 0.00 40 9 18.37 BMP1 0 genome.wustl.edu 37 8 22064428 22064428 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 8 22064428 22064428 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.2295 p.D765 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 50 0 0.00 39 10 20.41 76 0 0.00 34 14 29.17 AEBP1 0 genome.wustl.edu 37 7 44153422 44153422 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 7 44153422 44153422 C T SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.3039 p.P1013 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 38 0 0.00 46 44 48.89 56 0 0.00 33 19 36.54 NWD1 0 genome.wustl.edu 37 19 16860451 16860451 + Missense_Mutation SNP A A G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 19 16860451 16860451 A G SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.998 p.Q333R 0.000 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 34 0 0.00 23 5 17.86 40 0 0.00 25 8 24.24 SMTN 0 genome.wustl.edu 37 22 31486830 31486830 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 22 31486830 31486830 C T SNP SMTN ENST00000347557 human ensembl 74_37 +1 known missense c.902 p.S301L 0.369 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 61 0 0.00 58 31 34.83 39 0 0.00 20 4 16.67 UTP20 0 genome.wustl.edu 37 12 101728256 101728256 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 101728256 101728256 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.3615 p.L1205 0.872 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 40 0 0.00 70 112 61.54 84 0 0.00 139 158 52.67 TMPRSS3 0 genome.wustl.edu 37 21 43815481 43815481 + Nonsense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 21 43815481 43815481 G A SNP TMPRSS3 ENST00000380399 human ensembl 74_37 -1 known nonsense c.298 p.R100* 0.970 NULL pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS3 HGNC ENSG00000160183 tier1 - - 30 0 0.00 45 13 22.41 110 1 0.90 90 21 18.75 HNRNPA1 0 genome.wustl.edu 37 12 54676401 54676401 + Missense_Mutation SNP T T A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 54676401 54676401 T A SNP HNRNPA1 ENST00000340913 human ensembl 74_37 +1 known missense c.628 p.F210I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 tier1 - - 48 0 0.00 44 25 36.23 23 0 0.00 12 14 53.85 OR2T12 0 genome.wustl.edu 37 1 248457939 248457939 + Missense_Mutation SNP A A C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 1 248457939 248457939 A C SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.942 p.N314K 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 tier1 - - 75 0 0.00 60 38 38.78 36 0 0.00 19 20 51.28 PNN 0 genome.wustl.edu 37 14 39651863 39651863 + R SNP A A C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 14 39651863 39651863 A C SNP PNN ENST00000557680 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PNN HGNC ENSG00000100941 tier1 - - 23 0 0.00 11 13 54.17 114 0 0.00 75 42 35.90 TMEM132D 0 genome.wustl.edu 37 12 129558577 129558577 + Missense_Mutation SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 129558577 129558577 G T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.3143 p.T1048N 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 58 0 0.00 32 34 51.52 143 0 0.00 51 44 46.32 OR2M4 0 genome.wustl.edu 37 1 248402501 248402501 + Missense_Mutation SNP T T A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 1 248402501 248402501 T A SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.271 p.S91T 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 tier1 - - 76 0 0.00 56 45 44.55 100 0 0.00 43 33 43.42 HSPD1 0 genome.wustl.edu 37 2 198358123 198358123 + Missense_Mutation SNP T T C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 2 198358123 198358123 T C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.794 p.N265S 1.000 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 tier1 rs149003485 - 30 0 0.00 33 7 17.50 21 0 0.00 16 5 23.81 RERE 0 genome.wustl.edu 37 1 8421513 8421513 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 1 8421513 8421513 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.2054 p.G685E 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 tier1 - - 28 0 0.00 22 21 48.84 80 0 0.00 24 22 47.83 STARD4 0 genome.wustl.edu 37 5 110836598 110836598 + R SNP T T G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 5 110836598 110836598 T G SNP STARD4 ENST00000510346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STARD4 HGNC ENSG00000164211 tier1 - - 14 0 0.00 15 8 34.78 88 0 0.00 84 24 22.22 UHRF1BP1L 0 genome.wustl.edu 37 12 100451839 100451839 + Silent SNP T T C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 100451839 100451839 T C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known silent c.3216 p.P1072 0.841 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 27 0 0.00 55 107 66.05 93 0 0.00 168 71 29.58 DI2 0 genome.wustl.edu 37 17 72308191 72308191 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 17 72308191 72308191 G A SNP DI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1544 p.R515Q 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DI2 HGNC ENSG00000171595 tier1 - - 24 0 0.00 24 7 22.58 41 0 0.00 26 4 13.33 UTP20 0 genome.wustl.edu 37 12 101715333 101715333 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 101715333 101715333 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.2967 p.V989 0.997 pfam_DRIM,superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 42 0 0.00 105 165 61.11 73 0 0.00 156 214 57.84 SULF1 0 genome.wustl.edu 37 8 70533469 70533469 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 8 70533469 70533469 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1577 p.R526K 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 29 0 0.00 18 6 25.00 129 0 0.00 84 20 19.23 REV3L 0 genome.wustl.edu 37 6 111688371 111688371 + Missense_Mutation SNP C C G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 6 111688371 111688371 C G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.6620 p.R2207T 1.000 superfamily_RNaseH-like_dom pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 54 0 0.00 85 437 83.56 125 0 0.00 167 692 80.28 SULF1 0 genome.wustl.edu 37 8 70533412 70533412 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 8 70533412 70533412 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1520 p.R507K 0.076 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 33 0 0.00 26 7 21.21 91 0 0.00 75 16 17.58 RNF213 0 genome.wustl.edu 37 17 78268762 78268762 + Missense_Mutation SNP A A T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 17 78268762 78268762 A T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.1715 p.Q572L 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 47 0 0.00 39 10 20.41 75 0 0.00 58 10 14.71 MUC5AC 0 genome.wustl.edu 37 11 1214194 1214194 + R SNP T T C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 11 1214194 1214194 T C SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.016 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 46 0 0.00 19 18 48.65 166 0 0.00 40 45 52.94 DH14 0 genome.wustl.edu 37 1 225539569 225539569 + Frame_Shift_Del DEL A A - TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 1 225539569 225539569 A - DEL DH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_del c.11238 p.K3747fs 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 11 0 0.00 15 8 34.78 164 0 0.00 76 36 32.14 ZNF518A 0 genome.wustl.edu 37 10 97923283 97923283 + R DEL A A - TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 10 97923283 97923283 A - DEL ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 39 0 0.00 33 18 35.29 97 0 0.00 56 26 31.71 HCAR3 0 genome.wustl.edu 37 12 123200742 123200742 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 12 123200742 123200742 G A SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known silent c.543 p.S181 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 tier1 - - 49 0 0.00 13 27 67.50 36 0 0.00 5 13 72.22 MAGI1 0 genome.wustl.edu 37 3 65479204 65479204 + Missense_Mutation SNP T T C TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 3 65479204 65479204 T C SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.533 p.E178G 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 51 0 0.00 63 19 23.17 96 0 0.00 54 5 8.47 HMMR 0 genome.wustl.edu 37 5 162918134 162918134 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 5 162918134 162918134 C T SNP HMMR ENST00000393915 human ensembl 74_37 +1 known silent c.2142 p.Y714 0.032 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 - - 61 0 0.00 111 10 8.26 118 0 0.00 116 5 4.13 REV3L 0 genome.wustl.edu 37 6 111688530 111688530 + Nonsense_Mutation SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 6 111688530 111688530 G T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known nonsense c.6461 p.S2154* 0.085 superfamily_RNaseH-like_dom pfam_D-dir_D_pol_B_multi_dom,pfam_D-dir_D_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B,prints_D-dir_D_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 52 0 0.00 83 12 12.63 113 0 0.00 145 14 8.81 GPR56 0 genome.wustl.edu 37 16 57691386 57691386 + Silent SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 16 57691386 57691386 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.1269 p.A423 0.951 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 79 0 0.00 156 25 13.81 69 0 0.00 65 6 8.45 SERPI11 0 genome.wustl.edu 37 14 94909527 94909527 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 14 94909527 94909527 G A SNP SERPI11 ENST00000334708 human ensembl 74_37 -1 known missense c.953 p.S318F 0.710 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI11 HGNC ENSG00000186910 tier1 - - 66 0 0.00 35 8 18.60 148 1 0.67 49 4 7.55 SERPI11 0 genome.wustl.edu 37 14 94909524 94909524 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 14 94909524 94909524 C T SNP SERPI11 ENST00000334708 human ensembl 74_37 -1 known missense c.956 p.G319E 0.034 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI11 HGNC ENSG00000186910 tier1 - - 68 0 0.00 39 11 22.00 149 0 0.00 50 4 7.41 FAT1 0 genome.wustl.edu 37 4 187629538 187629538 + Missense_Mutation SNP C C A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 4 187629538 187629538 C A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.1444 p.V482F 0.970 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 12 0 0.00 3 6 31.58 57 0 0.00 16 33 34.38 ACADVL 0 genome.wustl.edu 37 17 7123240 7123241 + R INS - - GGGCGTGCAGGACGC TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 17 7123240 7123241 - GGGCGTGCAGGACGC INS ACADVL ENST00000577857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ACADVL HGNC ENSG00000072778 tier1 5 0 0.00 8 1 11.11 5 0 0.00 8 1 11.11 PRKRIR 0 genome.wustl.edu 37 11 76062929 76062929 + Missense_Mutation SNP A A G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 11 76062929 76062929 A G SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.1265 p.I422T 0.993 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 tier1 - - 35 0 0.00 27 9 25.00 5 0 0.00 3 1 25.00 PTMA 0 genome.wustl.edu 37 2 232577616 232577616 + R SNP A A G TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 2 232577616 232577616 A G SNP PTMA ENST00000466801 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMA HGNC ENSG00000187514 tier1 - - 17 0 0.00 10 5 31.25 6 0 0.00 7 1 12.50 AMZ1 0 genome.wustl.edu 37 7 2740235 2740235 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 7 2740235 2740235 G A SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known silent c.150 p.P50 0.019 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 tier1 - - 51 0 0.00 46 15 24.59 3 0 0.00 4 0 0.00 CT47B1 0 genome.wustl.edu 37 X 120009417 120009417 + Silent SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 X 120009417 120009417 G A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.108 p.G36 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 tier1 - - 34 0 0.00 11 49 81.67 0 0 0.00 0 0 0.00 LINC00273 0 genome.wustl.edu 37 16 33961400 33961400 + R SNP G G T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 16 33961400 33961400 G T SNP LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00273 HGNC ENSG00000256642 tier1 rs113037697 - 17 0 0.00 16 8 33.33 0 0 0.00 2 1 33.33 POTEB2 0 genome.wustl.edu 37 15 21071460 21071460 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 15 21071460 21071460 C T SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known missense c.151 p.D51N 0.034 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB2 HGNC ENSG00000230031 tier1 - - 9 0 0.00 7 4 36.36 3 0 0.00 3 0 0.00 SMG1P1 0 genome.wustl.edu 37 16 22503208 22503208 + R SNP A A T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 16 22503208 22503208 A T SNP SMG1P1 ENST00000431681 human ensembl 74_37 +1 known rna NULL NULL 0.087 - - - no_errors SMG1P1 HGNC ENSG00000237296 tier1 - - 65 0 0.00 75 7 8.33 0 0 0.00 0 0 0.00 TRAF3IP2-AS1 0 genome.wustl.edu 37 6 111812290 111812291 + R INS - - TGCGAAATT TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 6 111812290 111812291 - TGCGAAATT INS TRAF3IP2-AS1 ENST00000532226 human ensembl 74_37 +1 known rna NULL NULL 0.045:0.046 - - - no_errors TRAF3IP2-AS1 HGNC ENSG00000231889 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TOX2 0 genome.wustl.edu 37 20 42694484 42694484 + Missense_Mutation SNP C C T TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4936d96-0bcc-45f5-8c25-88095c8c18cc 21bc6cb1-b5ea-4cc1-9c9e-4f9885cee5d0 20 42694484 42694484 C T SNP TOX2 ENST00000341197 human ensembl 74_37 +1 known missense c.1093 p.R365C 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 tier1 rs142650311 - 42 0 0.00 37 19 33.93 2 0 0.00 0 2 100.00