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 ABCB4 0 genome.wustl.edu 37 7 87069137 87069137 + Missense_Mutation SNP A A C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 87069137 87069137 A C SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.1577 p.V526G 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 55 0 0.00 58 21 26.58 - - - ACAA2 0 genome.wustl.edu 37 18 47311649 47311649 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 18 47311649 47311649 C T SNP ACAA2 ENST00000285093 human ensembl 69_37n -1 known missense c.1027 p.V343M 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 45 0 0.00 56 23 29.11 - - - ADCK2 0 genome.wustl.edu 37 7 140389402 140389402 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 140389402 140389402 G C SNP ADCK2 ENST00000072869 human ensembl 69_37n +1 known missense c.1563 p.Q521H 0.607 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 36 0 0.00 54 12 18.18 - - - ANKRD12 0 genome.wustl.edu 37 18 9257247 9257247 + Nonsense_Mutation SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 18 9257247 9257247 G T SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known nonsense c.3982 p.E1328* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 35 0 0.00 43 11 20.37 - - - ARHGEF11 0 genome.wustl.edu 37 1 156915883 156915883 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 156915883 156915883 G A SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known silent c.2766 p.L922 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 9 0 0.00 21 10 32.26 - - - ASXL3 0 genome.wustl.edu 37 18 31325407 31325407 + Silent SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 18 31325407 31325407 C T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known silent c.5595 p.I1865 0.417 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 24 0 0.00 34 6 15.00 - - - BBX 0 genome.wustl.edu 37 3 107451818 107451818 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 107451818 107451818 G C SNP BBX ENST00000325805 human ensembl 69_37n +1 known missense c.617 p.G206A 1.000 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC ENSG00000114439 92 0 0.00 116 35 23.03 - - - BCORL1 0 genome.wustl.edu 37 X 129149215 129149215 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e X 129149215 129149215 C G SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.2467 p.P823A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 16 0 0.00 8 9 52.94 - - - BIRC3 0 genome.wustl.edu 37 11 102206908 102206909 + Frame_Shift_Del DEL CT CT - TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 102206908 102206909 CT - DEL BIRC3 ENST00000263464 human ensembl 69_37n +1 known frame_shift_del c.1536_1537 p.L514fs 0.997:0.997 pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 33 0 0.00 29 5 14.71 - - - BMP1 0 genome.wustl.edu 37 8 22052371 22052371 + Nonsense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 8 22052371 22052371 G A SNP BMP1 ENST00000306385 human ensembl 69_37n +1 known nonsense c.1578 p.W526* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 22 0 0.00 27 12 30.77 - - - BMPR2 0 genome.wustl.edu 37 2 203420345 203420345 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 203420345 203420345 C G SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known missense c.1957 p.P653A 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 25 0 0.00 38 10 20.83 - - - BRD4 0 genome.wustl.edu 37 19 15350784 15350784 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 15350784 15350784 C G SNP BRD4 ENST00000263377 human ensembl 69_37n -1 known missense c.3219 p.M1073I 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 38 0 0.00 30 12 28.57 - - - C1orf140 0 genome.wustl.edu 37 1 221509249 221509249 + RNA SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 221509249 221509249 G C SNP C1orf140 ENST00000434398 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors RP11-421L10.1 Clone_based_vega_gene ENSG00000234754 38 0 0.00 32 11 25.58 - - - CACNA2D1 0 genome.wustl.edu 37 7 81714138 81714138 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 81714138 81714138 G A SNP CACNA2D1 ENST00000356253 human ensembl 69_37n -1 known missense c.605 p.S202L 0.631 pfam_VWA_N pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 46 0 0.00 79 20 20.00 - - - CCDC130 0 genome.wustl.edu 37 19 13870017 13870017 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 13870017 13870017 C T SNP CCDC130 ENST00000588809 human ensembl 69_37n +1 putative missense c.419 p.T140I 1.000 NULL pfam_CWC16 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC130 HGNC ENSG00000104957 8 0 0.00 11 7 38.89 - - - CCNH 0 genome.wustl.edu 37 5 86703897 86703897 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 5 86703897 86703897 C G SNP CCNH ENST00000256897 human ensembl 69_37n -1 known missense c.421 p.E141Q 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H,tigrfam_Cyclin_H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H,tigrfam_Cyclin_H - no_errors CCNH HGNC ENSG00000134480 39 0 0.00 35 10 22.22 - - - CD248 0 genome.wustl.edu 37 11 66082230 66082230 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 66082230 66082230 C G SNP CD248 ENST00000311330 human ensembl 69_37n -1 known missense c.2269 p.V757L 0.996 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 10 0 0.00 22 6 21.43 - - - CDC40 0 genome.wustl.edu 37 6 110531945 110531945 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 110531945 110531945 G C SNP CDC40 ENST00000307731 human ensembl 69_37n +1 known missense c.666 p.K222N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 60 0 0.00 51 33 39.29 - - - CDRT1 0 genome.wustl.edu 37 17 15522583 15522583 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 17 15522583 15522583 C T SNP CDRT1 ENST00000395906 human ensembl 69_37n -1 known missense c.244 p.G82R 0.916 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 93 0 0.00 52 28 35.00 - - - CHRM2 0 genome.wustl.edu 37 7 136699784 136699784 + Missense_Mutation SNP A A T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 136699784 136699784 A T SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known missense c.172 p.N58Y 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 95 0 0.00 101 31 23.48 - - - CHRNA4 0 genome.wustl.edu 37 20 61982113 61982113 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 61982113 61982113 G C SNP CHRNA4 ENST00000370263 human ensembl 69_37n -1 known missense c.650 p.T217S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 60 0 0.00 70 22 23.91 - - - CLPTM1 0 genome.wustl.edu 37 19 45494525 45494525 + Silent SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 45494525 45494525 C G SNP CLPTM1 ENST00000337392 human ensembl 69_37n +1 known silent c.1449 p.L483 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 42 0 0.00 48 27 36.00 - - - CNTN6 0 genome.wustl.edu 37 3 1444013 1444013 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 1444013 1444013 G A SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known silent c.2829 p.R943 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 29 0 0.00 31 14 31.11 - - - COL7A1 0 genome.wustl.edu 37 3 48613091 48613091 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 48613091 48613091 C A SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.5947 p.D1983Y 0.989 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 16 0 0.00 5 7 58.33 - - - CREB3L3 0 genome.wustl.edu 37 19 4157065 4157065 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 4157065 4157065 C T SNP CREB3L3 ENST00000078445 human ensembl 69_37n +1 known missense c.230 p.S77F 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 35 0 0.00 21 10 32.26 - - - CYP8B1 0 genome.wustl.edu 37 3 42917067 42917067 + Missense_Mutation SNP A A C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 42917067 42917067 A C SNP CYP8B1 ENST00000316161 human ensembl 69_37n -1 known missense c.242 p.M81R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 32 0 0.00 22 16 42.11 - - - DDI1 0 genome.wustl.edu 37 11 103907921 103907921 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 103907921 103907921 G A SNP DDI1 ENST00000302259 human ensembl 69_37n +1 known missense c.371 p.R124Q 0.000 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 13 0 0.00 23 5 17.86 - - - DES 0 genome.wustl.edu 37 2 220283541 220283541 + Silent SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 220283541 220283541 C T SNP DES ENST00000373960 human ensembl 69_37n +1 known silent c.357 p.F119 1.000 pfam_F,superfamily_Prefoldin pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors DES HGNC ENSG00000175084 12 0 0.00 10 7 41.18 - - - DIDO1 0 genome.wustl.edu 37 20 61522371 61522371 + Missense_Mutation SNP A A C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 61522371 61522371 A C SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known missense c.3482 p.L1161R 1.000 pfam_SPOC_C pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 49 0 0.00 54 22 28.95 - - - DNAH10 0 genome.wustl.edu 37 12 124281372 124281372 + Missense_Mutation SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 124281372 124281372 G T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.1802 p.G601V 0.994 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 37 0 0.00 42 16 27.59 - - - DNAI2 0 genome.wustl.edu 37 17 72308231 72308231 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 17 72308231 72308231 G A SNP DNAI2 ENST00000311014 human ensembl 69_37n +1 known silent c.1584 p.R528 0.372 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 26 0 0.00 27 10 27.03 - - - DNTTIP1 0 genome.wustl.edu 37 20 44429777 44429777 + Missense_Mutation SNP T T A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 44429777 44429777 T A SNP DNTTIP1 ENST00000372622 human ensembl 69_37n +1 known missense c.437 p.I146K 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 43 0 0.00 62 16 20.51 - - - DOCK4 0 genome.wustl.edu 37 7 111395657 111395657 + Missense_Mutation SNP T T A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 111395657 111395657 T A SNP DOCK4 ENST00000428084 human ensembl 69_37n -1 known missense c.4330 p.S1444C 1.000 pfam_DOCK pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 43 0 0.00 41 36 46.75 - - - ELF2 0 genome.wustl.edu 37 4 139980675 139980675 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 4 139980675 139980675 G A SNP ELF2 ENST00000379550 human ensembl 69_37n -1 known missense c.1244 p.A415V 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF2 HGNC ENSG00000109381 32 0 0.00 25 12 32.43 - - - EPHX3 0 genome.wustl.edu 37 19 15342092 15342092 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 15342092 15342092 C G SNP EPHX3 ENST00000221730 human ensembl 69_37n -1 known missense c.445 p.D149H 0.156 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 35 0 0.00 36 7 16.28 - - - ERMAP 0 genome.wustl.edu 37 1 43296767 43296767 + Silent SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 43296767 43296767 C A SNP ERMAP ENST00000372514 human ensembl 69_37n +1 known silent c.414 p.T138 0.356 smart_Ig_sub,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors ERMAP HGNC ENSG00000164010 32 0 0.00 34 10 22.73 - - - F12 0 genome.wustl.edu 37 5 176829562 176829562 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 5 176829562 176829562 C A SNP F12 ENST00000253496 human ensembl 69_37n -1 known missense c.1669 p.D557Y 0.997 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EGF-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors F12 HGNC ENSG00000131187 10 0 0.00 21 6 22.22 - - - FAM100B 0 genome.wustl.edu 37 17 74262032 74262034 + In_Frame_Del DEL CCA CCA - TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 17 74262032 74262034 CCA - DEL FAM100B ENST00000327490 human ensembl 69_37n +1 known in_frame_del c.165_167 p.H59in_frame_del 0.998:1.000:1.000 NULL superfamily_UBA-like - no_errors FAM100B HGNC ENSG00000185262 26 0 0.00 7 2 22.22 - - - FAM131B 0 genome.wustl.edu 37 7 143055977 143055977 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 143055977 143055977 C G SNP FAM131B ENST00000443739 human ensembl 69_37n -1 known missense c.409 p.D137H 1.000 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 27 0 0.00 63 10 13.70 - - - FAM83E 0 genome.wustl.edu 37 19 49107072 49107072 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 49107072 49107072 G A SNP FAM83E ENST00000263266 human ensembl 69_37n -1 known silent c.855 p.Y285 0.990 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 8 0 0.00 5 4 44.44 - - - FASTKD1 0 genome.wustl.edu 37 2 170428450 170428450 + Missense_Mutation SNP T T A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 170428450 170428450 T A SNP FASTKD1 ENST00000453153 human ensembl 69_37n -1 known missense c.90 p.Q30H 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 40 0 0.00 62 18 22.50 - - - G3BP1 0 genome.wustl.edu 37 5 151179507 151179507 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 5 151179507 151179507 C G SNP G3BP1 ENST00000356245 human ensembl 69_37n +1 known missense c.901 p.Q301E 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 29 0 0.00 35 5 12.50 - - - GALNT3 0 genome.wustl.edu 37 2 166611525 166611525 + Nonsense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 166611525 166611525 G A SNP GALNT3 ENST00000392701 human ensembl 69_37n -1 known nonsense c.1441 p.Q481* 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 41 0 0.00 62 20 24.39 - - - GLP2R 0 genome.wustl.edu 37 17 9764490 9764490 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 17 9764490 9764490 C T SNP GLP2R ENST00000458005 human ensembl 69_37n +1 putative missense c.518 p.S173L 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLP2R HGNC ENSG00000065325 63 0 0.00 58 15 20.55 - - - GPATCH1 0 genome.wustl.edu 37 19 33602732 33602732 + Nonsense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 33602732 33602732 C A SNP GPATCH1 ENST00000170564 human ensembl 69_37n +1 known nonsense c.1688 p.S563* 0.964 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 32 0 0.00 39 14 25.93 - - - GRHL1 0 genome.wustl.edu 37 2 10126310 10126310 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 10126310 10126310 G A SNP GRHL1 ENST00000324907 human ensembl 69_37n +1 known missense c.1169 p.G390E 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 38 0 0.00 40 15 27.27 - - - GUCY1A3 0 genome.wustl.edu 37 4 156634276 156634276 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 4 156634276 156634276 C G SNP GUCY1A3 ENST00000296518 human ensembl 69_37n +1 known missense c.1113 p.I371M 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 32 0 0.00 18 9 33.33 - - - HIST1H2BK 0 genome.wustl.edu 37 6 27114571 27114571 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 27114571 27114571 C T SNP HIST1H2BK ENST00000356950 human ensembl 69_37n -1 known missense c.7 p.E3K 0.998 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC ENSG00000197903 41 0 0.00 36 16 30.77 - - - HOMER2 0 genome.wustl.edu 37 15 83523419 83523419 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 15 83523419 83523419 C T SNP HOMER2 ENST00000304231 human ensembl 69_37n -1 known missense c.661 p.E221K 0.998 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER2 HGNC ENSG00000103942 24 0 0.00 15 7 31.82 - - - HOXA-AS3 0 genome.wustl.edu 37 7 27186870 27186870 + RNA SNP T T C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 27186870 27186870 T C SNP HOXA-AS3 ENST00000518947 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 15 0 0.00 30 15 33.33 - - - HOXC6 0 genome.wustl.edu 37 12 54422706 54422709 + Frame_Shift_Del DEL GTGA GTGA - TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 54422706 54422709 GTGA - DEL HOXC6 ENST00000504315 human ensembl 69_37n +1 known frame_shift_del c.155 p.G52fs 1.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region HOXC6 HGNC ENSG00000197757 18 0 0.00 14 10 40.00 - - - HSP90AB1 0 genome.wustl.edu 37 6 44219554 44219554 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 44219554 44219554 G A SNP HSP90AB1 ENST00000435812 human ensembl 69_37n +1 known missense c.272 p.R91K 1.000 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HSP90AB1 HGNC ENSG00000096384 51 0 0.00 31 36 53.73 - - - ICK 0 genome.wustl.edu 37 6 52876589 52876589 + Silent SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 52876589 52876589 C T SNP ICK ENST00000350082 human ensembl 69_37n -1 known silent c.1470 p.L490 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ICK HGNC ENSG00000112144 27 0 0.00 33 9 21.43 - - - IL28B 0 genome.wustl.edu 37 19 39734335 39734335 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 39734335 39734335 G A SNP IL28B ENST00000413851 human ensembl 69_37n -1 known silent c.528 p.F176 0.997 NULL NULL - no_errors IL28B HGNC ENSG00000197110 58 0 0.00 51 19 27.14 - - - ILF3 0 genome.wustl.edu 37 19 10795141 10795141 + Nonstop_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 10795141 10795141 G C SNP ILF3 ENST00000407004 human ensembl 69_37n +1 known nonstop c.2121 p.*707Y 1.000 NULL pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors ILF3 HGNC ENSG00000129351 62 0 0.00 90 37 29.13 - - - IQGAP2 0 genome.wustl.edu 37 5 75969810 75969810 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 5 75969810 75969810 G A SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known silent c.3243 p.K1081 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 47 0 0.00 54 25 31.65 - - - KCND3 0 genome.wustl.edu 37 1 112329593 112329593 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 112329593 112329593 C G SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known missense c.1242 p.Q414H 1.000 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 33 0 0.00 42 15 26.32 - - - KCTD19 0 genome.wustl.edu 37 16 67325347 67325347 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 16 67325347 67325347 G C SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known missense c.2430 p.F810L 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 31 0 0.00 26 18 40.91 - - - KDM2A 0 genome.wustl.edu 37 11 66999259 66999259 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 66999259 66999259 G A SNP KDM2A ENST00000529006 human ensembl 69_37n +1 known missense c.1307 p.G436E 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 26 0 0.00 39 19 32.76 - - - KIAA1324 0 genome.wustl.edu 37 1 109743374 109743374 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 109743374 109743374 C G SNP KIAA1324 ENST00000369939 human ensembl 69_37n +1 known missense c.2825 p.S942C 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC ENSG00000116299 30 0 0.00 46 19 29.23 - - - KIAA2018 0 genome.wustl.edu 37 3 113379916 113379916 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 113379916 113379916 C G SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.613 p.E205Q 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 56 0 0.00 90 29 24.37 - - - LDHC 0 genome.wustl.edu 37 11 18434280 18434280 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 18434280 18434280 G C SNP LDHC ENST00000280704 human ensembl 69_37n +1 known missense c.16 p.E6Q 1.000 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 46 0 0.00 38 8 17.39 - - - LIG1 0 genome.wustl.edu 37 19 48653045 48653045 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 48653045 48653045 G C SNP LIG1 ENST00000263274 human ensembl 69_37n -1 known missense c.751 p.P251A 0.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 38 0 0.00 33 24 42.11 - - - LILRA4 0 genome.wustl.edu 37 19 54848304 54848304 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 54848304 54848304 G A SNP LILRA4 ENST00000291759 human ensembl 69_37n -1 known silent c.1063 p.L355 0.154 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA4 HGNC ENSG00000239961 63 0 0.00 51 22 30.14 - - - LOXHD1 0 genome.wustl.edu 37 18 44125353 44125353 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 18 44125353 44125353 C G SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.3546 p.K1182N 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 67 0 0.00 102 33 24.44 - - - MANSC4 0 genome.wustl.edu 37 12 27916222 27916222 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 27916222 27916222 C T SNP MANSC4 ENST00000381273 human ensembl 69_37n -1 novel missense c.472 p.D158N 0.010 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC4 HGNC ENSG00000205693 59 0 0.00 61 30 32.97 - - - MIR7-3 0 genome.wustl.edu 37 19 4770765 4770765 + RNA SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 4770765 4770765 G A SNP MIR7-3 ENST00000384898 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors MIR7-3 HGNC ENSG00000207630 96 0 0.00 109 36 24.83 - - - MLLT10 0 genome.wustl.edu 37 10 21962594 21962594 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 10 21962594 21962594 C G SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known missense c.1367 p.S456C 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 30 0 0.00 35 11 23.91 - - - MTIF2 0 genome.wustl.edu 37 2 55470655 55470655 + Silent SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 55470655 55470655 C T SNP MTIF2 ENST00000263629 human ensembl 69_37n -1 known silent c.1461 p.K487 1.000 NULL pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 114 0 0.00 149 47 23.98 - - - MUC5B 0 genome.wustl.edu 37 11 1272209 1272209 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 1272209 1272209 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.14108 p.P4703L 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 151 0 0.00 136 61 30.96 - - - MUT 0 genome.wustl.edu 37 6 49426879 49426879 + Missense_Mutation SNP T T C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 49426879 49426879 T C SNP MUT ENST00000274813 human ensembl 69_37n -1 known missense c.301 p.T101A 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 73 0 0.00 47 20 29.85 - - - MYH7B 0 genome.wustl.edu 37 20 33568430 33568430 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 33568430 33568430 C A SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel missense c.518 p.P173Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 53 0 0.00 60 9 13.04 - - - MYLK 0 genome.wustl.edu 37 3 123376021 123376021 + Nonsense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 123376021 123376021 C A SNP MYLK ENST00000360304 human ensembl 69_37n -1 known nonsense c.4240 p.E1414* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 51 0 0.00 61 28 31.46 - - - MYPN 0 genome.wustl.edu 37 10 69881600 69881600 + Frame_Shift_Del DEL A A - TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 10 69881600 69881600 A - DEL MYPN ENST00000358913 human ensembl 69_37n +1 known frame_shift_del c.405 p.R137fs 0.221 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 16 0 0.00 14 2 12.50 - - - MYT1 0 genome.wustl.edu 37 20 62868702 62868702 + Missense_Mutation SNP A A T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 62868702 62868702 A T SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known missense c.3133 p.N1045Y 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 35 0 0.00 20 14 41.18 - - - NALCN 0 genome.wustl.edu 37 13 101777015 101777015 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 13 101777015 101777015 G A SNP NALCN ENST00000251127 human ensembl 69_37n -1 known silent c.2136 p.F712 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 51 0 0.00 96 28 22.58 - - - NAMPTL 0 genome.wustl.edu 37 10 36813126 36813126 + Nonsense_Mutation SNP T T A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 10 36813126 36813126 T A SNP NAMPTL ENST00000440465 human ensembl 69_37n -1 known nonsense c.37 p.K13* 1.000 pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_start_codon NAMPTL HGNC ENSG00000229644 103 0 0.00 130 34 20.73 - - - NAPA 0 genome.wustl.edu 37 19 47996232 47996232 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 47996232 47996232 C G SNP NAPA ENST00000263354 human ensembl 69_37n -1 known missense c.547 p.D183H 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 40 0 0.00 29 17 36.17 - - - NBAS 0 genome.wustl.edu 37 2 15374818 15374818 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 15374818 15374818 C G SNP NBAS ENST00000281513 human ensembl 69_37n -1 known missense c.5997 p.E1999D 0.010 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 22 0 0.00 41 12 22.64 - - - NBEAL2 0 genome.wustl.edu 37 3 47045824 47045824 + Nonsense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 47045824 47045824 C T SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known nonsense c.6139 p.Q2047* 1.000 superfamily_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 12 0 0.00 6 6 50.00 - - - NEB 0 genome.wustl.edu 37 2 152435968 152435968 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 152435968 152435968 C G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.16588 p.E5530Q 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 124 0 0.00 185 49 20.94 - - - NEXN 0 genome.wustl.edu 37 1 78395103 78395103 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 78395103 78395103 G C SNP NEXN ENST00000334785 human ensembl 69_37n +1 known missense c.967 p.E323Q 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors NEXN HGNC ENSG00000162614 52 0 0.00 65 18 21.69 - - - NLRP4 0 genome.wustl.edu 37 19 56370171 56370171 + Missense_Mutation SNP A A T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 56370171 56370171 A T SNP NLRP4 ENST00000301295 human ensembl 69_37n +1 known missense c.1412 p.D471V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 60 0 0.00 48 23 32.39 - - - NT5DC3 0 genome.wustl.edu 37 12 104200107 104200107 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 104200107 104200107 C G SNP NT5DC3 ENST00000392876 human ensembl 69_37n -1 known missense c.517 p.V173L 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 49 0 0.00 36 8 18.18 - - - OIP5 0 genome.wustl.edu 37 15 41624735 41624735 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 15 41624735 41624735 G C SNP OIP5 ENST00000220514 human ensembl 69_37n -1 known missense c.25 p.R9G 0.000 NULL NULL - no_errors OIP5 HGNC ENSG00000104147 15 0 0.00 26 10 27.78 - - - OR10J5 0 genome.wustl.edu 37 1 159505696 159505696 + Silent SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 159505696 159505696 G C SNP OR10J5 ENST00000334857 human ensembl 69_37n -1 known silent c.102 p.V34 0.713 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10J5 HGNC ENSG00000184155 22 0 0.00 39 11 22.00 - - - OTOF 0 genome.wustl.edu 37 2 26688938 26688938 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 26688938 26688938 C G SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.4507 p.D1503H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 82 0 0.00 111 26 18.98 - - - PCDHGB4 0 genome.wustl.edu 37 5 140767563 140767563 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 5 140767563 140767563 C A SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known missense c.112 p.P38T 0.999 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 14 0 0.00 14 12 46.15 - - - PDE10A 0 genome.wustl.edu 37 6 165827098 165827098 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 165827098 165827098 C G SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.1169 p.G390A 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 54 0 0.00 45 15 25.00 - - - PDE10A 0 genome.wustl.edu 37 6 165832134 165832134 + Silent SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 165832134 165832134 G T SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known silent c.987 p.T329 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 29 0 0.00 26 16 38.10 - - - PEX11G 0 genome.wustl.edu 37 19 7547069 7547069 + Missense_Mutation SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 7547069 7547069 G T SNP PEX11G ENST00000221480 human ensembl 69_37n -1 known missense c.278 p.S93Y 0.995 pfam_PEX11 pfam_PEX11 - no_errors PEX11G HGNC ENSG00000104883 15 0 0.00 11 7 38.89 - - - PIGM 0 genome.wustl.edu 37 1 160000705 160000705 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 160000705 160000705 G C SNP PIGM ENST00000368090 human ensembl 69_37n -1 known missense c.825 p.F275L 1.000 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 21 0 0.00 38 17 30.91 - - - PLA2R1 0 genome.wustl.edu 37 2 160825803 160825803 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 160825803 160825803 G C SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known missense c.2728 p.Q910E 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 43 0 0.00 83 28 25.00 - - - PLAC9 0 genome.wustl.edu 37 10 81901933 81901933 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 10 81901933 81901933 G C SNP PLAC9 ENST00000372263 human ensembl 69_37n +1 known missense c.160 p.E54Q 0.987 NULL NULL - no_errors PLAC9 HGNC ENSG00000189129 36 0 0.00 27 15 35.71 - - - PLEKHM3 0 genome.wustl.edu 37 2 208811101 208811101 + Nonsense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 208811101 208811101 G C SNP PLEKHM3 ENST00000427836 human ensembl 69_37n -1 known nonsense c.1682 p.S561* 0.977 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 45 0 0.00 44 15 25.42 - - - POLR3D 0 genome.wustl.edu 37 8 22107968 22107968 + Silent SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 8 22107968 22107968 C T SNP POLR3D ENST00000397802 human ensembl 69_37n +1 known silent c.1134 p.H378 0.918 pfam_RNA_pol_III_Rpc4 pfam_RNA_pol_III_Rpc4 - no_errors POLR3D HGNC ENSG00000168495 64 0 0.00 79 21 21.00 - - - PPM1B 0 genome.wustl.edu 37 2 44428733 44428733 + Nonsense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 44428733 44428733 C G SNP PPM1B ENST00000282412 human ensembl 69_37n +1 known nonsense c.395 p.S132* 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1B HGNC ENSG00000138032 60 0 0.00 68 18 20.93 - - - PPP2R5D 0 genome.wustl.edu 37 6 42976473 42976473 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 42976473 42976473 C G SNP PPP2R5D ENST00000485511 human ensembl 69_37n +1 known missense c.1069 p.L357V 0.997 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 34 0 0.00 28 6 17.65 - - - PREX1 0 genome.wustl.edu 37 20 47309237 47309237 + Nonsense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 47309237 47309237 C A SNP PREX1 ENST00000371941 human ensembl 69_37n -1 known nonsense c.1009 p.E337* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 68 0 0.00 52 30 36.59 - - - PRICKLE4 0 genome.wustl.edu 37 6 41753249 41753249 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 41753249 41753249 C G SNP PRICKLE4 ENST00000335515 human ensembl 69_37n +1 known missense c.553 p.L185V 0.837 pfscan_Znf_LIM pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 16 0 0.00 9 8 47.06 - - - PRKAR1B 0 genome.wustl.edu 37 7 720286 720286 + Silent SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 720286 720286 G C SNP PRKAR1B ENST00000360274 human ensembl 69_37n -1 known silent c.255 p.T85 0.006 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 13 0 0.00 5 10 66.67 - - - PRMT7 0 genome.wustl.edu 37 16 68382280 68382280 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 16 68382280 68382280 C G SNP PRMT7 ENST00000339507 human ensembl 69_37n +1 known missense c.1359 p.N453K 0.023 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 48 0 0.00 16 9 36.00 - - - PRPF4B 0 genome.wustl.edu 37 6 4037783 4037783 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 4037783 4037783 G A SNP PRPF4B ENST00000337659 human ensembl 69_37n +1 known missense c.1391 p.R464K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PRPF4B HGNC ENSG00000112739 27 0 0.00 21 9 30.00 - - - PRPF6 0 genome.wustl.edu 37 20 62616368 62616368 + Missense_Mutation SNP A A C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 20 62616368 62616368 A C SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known missense c.349 p.K117Q 1.000 pfam_PRP1_N pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 32 0 0.00 58 15 20.55 - - - RBBP8 0 genome.wustl.edu 37 18 20581659 20581659 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 18 20581659 20581659 G C SNP RBBP8 ENST00000327155 human ensembl 69_37n +1 known missense c.2254 p.E752Q 0.057 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 53 0 0.00 61 16 20.78 - - - RGPD4 0 genome.wustl.edu 37 2 108487221 108487221 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 108487221 108487221 G C SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.2761 p.D921H 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 73 0 0.00 78 39 33.33 - - - RIN3 0 genome.wustl.edu 37 14 93118024 93118024 + Silent SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 14 93118024 93118024 C G SNP RIN3 ENST00000216487 human ensembl 69_37n +1 known silent c.630 p.L210 0.340 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 24 0 0.00 24 9 27.27 - - - RNF128 0 genome.wustl.edu 37 X 105937522 105937522 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e X 105937522 105937522 G A SNP RNF128 ENST00000324342 human ensembl 69_37n +1 known missense c.290 p.R97K 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 34 0 0.00 28 9 24.32 - - - SALL1 0 genome.wustl.edu 37 16 51175790 51175790 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 16 51175790 51175790 C G SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.343 p.E115Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 91 0 0.00 59 32 35.16 - - - SERPINE1 0 genome.wustl.edu 37 7 100773847 100773847 + Silent SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 100773847 100773847 G T SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known silent c.417 p.L139 0.965 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE1 HGNC ENSG00000106366 34 0 0.00 29 4 12.12 - - - SHE 0 genome.wustl.edu 37 1 154473950 154473950 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 154473950 154473950 C T SNP SHE ENST00000304760 human ensembl 69_37n -1 known missense c.553 p.E185K 0.982 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 36 0 0.00 48 20 29.41 - - - SLC15A2 0 genome.wustl.edu 37 3 121658238 121658238 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 121658238 121658238 C G SNP SLC15A2 ENST00000489711 human ensembl 69_37n +1 known missense c.1804 p.P602A 0.027 tigrfam_Pep_H_symport pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport - no_errors SLC15A2 HGNC ENSG00000163406 53 0 0.00 88 30 25.42 - - - SMAP1 0 genome.wustl.edu 37 6 71546704 71546704 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 71546704 71546704 G C SNP SMAP1 ENST00000370455 human ensembl 69_37n +1 known missense c.637 p.E213Q 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 45 0 0.00 37 23 38.33 - - - SMC6 0 genome.wustl.edu 37 2 17896164 17896164 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 17896164 17896164 G A SNP SMC6 ENST00000381272 human ensembl 69_37n -1 known missense c.1772 p.S591F 0.978 NULL NULL - no_errors SMC6 HGNC ENSG00000163029 37 0 0.00 47 9 16.07 - - - SMEK2 0 genome.wustl.edu 37 2 55806833 55806833 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 2 55806833 55806833 C T SNP SMEK2 ENST00000272313 human ensembl 69_37n -1 known missense c.1450 p.E484K 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 77 0 0.00 108 19 14.96 - - - SNX15 0 genome.wustl.edu 37 11 64803125 64803125 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 64803125 64803125 C A SNP SNX15 ENST00000377244 human ensembl 69_37n +1 known missense c.654 p.F218L 1.000 NULL pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 30 0 0.00 28 12 30.00 - - - SPIC 0 genome.wustl.edu 37 12 101871392 101871392 + Silent SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 101871392 101871392 G C SNP SPIC ENST00000299272 human ensembl 69_37n +1 known silent c.60 p.L20 0.980 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC ENSG00000166211 49 0 0.00 42 18 30.00 - - - SSRP1 0 genome.wustl.edu 37 11 57099625 57099625 + Splice_Site SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 57099625 57099625 C A SNP SSRP1 ENST00000278412 human ensembl 69_37n -1 known splice_site c.1001+1 e7+1 1.000 - - - no_errors SSRP1 HGNC ENSG00000149136 29 0 0.00 37 12 24.49 - - - STIP1 0 genome.wustl.edu 37 11 63970680 63970680 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 63970680 63970680 G C SNP STIP1 ENST00000305218 human ensembl 69_37n +1 known missense c.1366 p.D456H 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 23 0 0.00 20 5 20.00 - - - TCP11L2 0 genome.wustl.edu 37 12 106729428 106729428 + Nonsense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 106729428 106729428 C T SNP TCP11L2 ENST00000299045 human ensembl 69_37n +1 known nonsense c.784 p.Q262* 0.634 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 30 0 0.00 16 12 42.86 - - - TMEM223 0 genome.wustl.edu 37 11 62558104 62558104 + Silent SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 11 62558104 62558104 C G SNP TMEM223 ENST00000307366 human ensembl 69_37n -1 known silent c.600 p.R200 0.977 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 28 0 0.00 31 10 24.39 - - - TMEM68 0 genome.wustl.edu 37 8 56668876 56668876 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 8 56668876 56668876 G A SNP TMEM68 ENST00000520061 human ensembl 69_37n -1 known missense c.236 p.S79L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM68 HGNC ENSG00000167904 30 0 0.00 40 11 21.57 - - - TNRC6C 0 genome.wustl.edu 37 17 76047128 76047128 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 17 76047128 76047128 G A SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known missense c.1985 p.G662D 0.998 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 39 0 0.00 24 15 38.46 - - - TOMM6 0 genome.wustl.edu 37 6 41757047 41757047 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 41757047 41757047 C A SNP TOMM6 ENST00000398881 human ensembl 69_37n +1 novel missense c.206 p.A69E 1.000 NULL NULL - no_errors TOMM6 HGNC ENSG00000214736 48 0 0.00 47 24 33.33 - - - TPP2 0 genome.wustl.edu 37 13 103281891 103281891 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 13 103281891 103281891 G A SNP TPP2 ENST00000376065 human ensembl 69_37n +1 known missense c.1076 p.S359N 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 59 0 0.00 129 23 15.13 - - - UGT2A1 0 genome.wustl.edu 37 4 70504739 70504739 + Nonsense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 4 70504739 70504739 G C SNP UGT2A1 ENST00000457664 human ensembl 69_37n -1 known nonsense c.620 p.S207* 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 24 0 0.00 17 17 50.00 - - - ULK3 0 genome.wustl.edu 37 15 75131064 75131064 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 15 75131064 75131064 G A SNP ULK3 ENST00000440863 human ensembl 69_37n -1 known missense c.1022 p.A341V 1.000 pfam_MIT,smart_MIT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom - no_errors ULK3 HGNC ENSG00000140474 15 0 0.00 18 15 45.45 - - - USP26 0 genome.wustl.edu 37 X 132160197 132160197 + Silent SNP G G T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e X 132160197 132160197 G T SNP USP26 ENST00000370832 human ensembl 69_37n -1 known silent c.2052 p.L684 0.002 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 40 0 0.00 31 15 32.61 - - - UTP20 0 genome.wustl.edu 37 12 101699730 101699730 + Missense_Mutation SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 12 101699730 101699730 G A SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.1819 p.D607N 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 47 0 0.00 29 22 43.14 - - - UTRN 0 genome.wustl.edu 37 6 144869832 144869832 + Missense_Mutation SNP C C A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 144869832 144869832 C A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.6652 p.Q2218K 0.047 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 39 0 0.00 40 11 21.57 - - - VPS33B 0 genome.wustl.edu 37 15 91561082 91561082 + Missense_Mutation SNP C C G TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 15 91561082 91561082 C G SNP VPS33B ENST00000333371 human ensembl 69_37n -1 known missense c.130 p.D44H 0.999 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 36 0 0.00 41 9 18.00 - - - WDR72 0 genome.wustl.edu 37 15 53908000 53908000 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 15 53908000 53908000 G A SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known silent c.2403 p.C801 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 54 0 0.00 47 36 43.37 - - - XPNPEP2 0 genome.wustl.edu 37 X 128889307 128889307 + Missense_Mutation SNP A A C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e X 128889307 128889307 A C SNP XPNPEP2 ENST00000371106 human ensembl 69_37n +1 known missense c.1255 p.I419L 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 41 0 0.00 45 30 40.00 - - - XRN1 0 genome.wustl.edu 37 3 142095323 142095323 + Missense_Mutation SNP T T C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 3 142095323 142095323 T C SNP XRN1 ENST00000498077 human ensembl 69_37n -1 known missense c.1225 p.K409E 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region XRN1 HGNC ENSG00000114127 21 0 0.00 32 15 31.91 - - - ZNF277 0 genome.wustl.edu 37 7 111846820 111846820 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 7 111846820 111846820 C T SNP ZNF277 ENST00000361822 human ensembl 69_37n +1 known missense c.49 p.R17C 0.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 38 0 0.00 38 12 24.00 - - - ZNF292 0 genome.wustl.edu 37 6 87964520 87964520 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 6 87964520 87964520 G A SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known silent c.1173 p.L391 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 62 0 0.00 64 30 31.91 - - - ZNF587 0 genome.wustl.edu 37 19 58370285 58370285 + Missense_Mutation SNP C C T TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 19 58370285 58370285 C T SNP ZNF587 ENST00000339656 human ensembl 69_37n +1 known missense c.505 p.P169S 0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 26 0 0.00 11 3 21.43 - - - ZNF678 0 genome.wustl.edu 37 1 227842649 227842649 + Missense_Mutation SNP G G C TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9ddf2119-a222-4fa5-a9f3-0bec7eeea36b 26aa0f07-c813-4659-88fa-fdbae73a937e 1 227842649 227842649 G C SNP ZNF678 ENST00000397097 human ensembl 69_37n +1 known missense c.863 p.G288A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 31 0 0.00 26 5 16.13 - - -