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 ABCA5 0 genome.wustl.edu 37 17 67260917 67260917 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 67260917 67260917 G A SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.3277 p.H1093Y 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 124 0 0.00 110 32 22.54 - - - ABCA5 0 genome.wustl.edu 37 17 67260917 67260917 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 67260917 67260917 G A SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.3277 p.H1093Y 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 72 0 0.00 110 32 22.54 - - - ABCA5 0 genome.wustl.edu 37 17 67260950 67260950 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 67260950 67260950 G C SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.3244 p.L1082V 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 130 0 0.00 107 34 24.11 - - - ABCA5 0 genome.wustl.edu 37 17 67260950 67260950 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 67260950 67260950 G C SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.3244 p.L1082V 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 92 0 0.00 107 34 24.11 - - - ABCA8 0 genome.wustl.edu 37 17 66881408 66881408 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 66881408 66881408 C T SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.3478 p.D1160N 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 79 0 0.00 163 42 20.49 - - - ABCA8 0 genome.wustl.edu 37 17 66881408 66881408 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 66881408 66881408 C T SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.3478 p.D1160N 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 64 0 0.00 163 42 20.49 - - - ABRA 0 genome.wustl.edu 37 8 107781891 107781891 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 107781891 107781891 C T SNP ABRA ENST00000311955 human ensembl 69_37n -1 known silent c.528 p.V176 0.999 NULL NULL - no_errors ABRA HGNC ENSG00000174429 501 0 0.00 276 108 28.12 - - - ABRA 0 genome.wustl.edu 37 8 107781891 107781891 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 107781891 107781891 C T SNP ABRA ENST00000311955 human ensembl 69_37n -1 known silent c.528 p.V176 0.999 NULL NULL - no_errors ABRA HGNC ENSG00000174429 227 0 0.00 276 108 28.12 - - - ALDH3B2 0 genome.wustl.edu 37 11 67431978 67431978 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 67431978 67431978 G C SNP ALDH3B2 ENST00000349015 human ensembl 69_37n -1 known missense c.762 p.I254M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 70 0 0.00 33 11 25.00 - - - ALDH3B2 0 genome.wustl.edu 37 11 67431978 67431978 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 67431978 67431978 G C SNP ALDH3B2 ENST00000349015 human ensembl 69_37n -1 known missense c.762 p.I254M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 27 0 0.00 33 11 25.00 - - - AMZ2P1 0 genome.wustl.edu 37 17 62969044 62969044 + RNA SNP T T A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 62969044 62969044 T A SNP AMZ2P1 ENST00000397713 human ensembl 69_37n -1 known rna NULL NULL 0.670 - - - no_errors AMZ2P1 HGNC ENSG00000214174 82 0 0.00 52 32 38.10 - - - AMZ2P1 0 genome.wustl.edu 37 17 62969044 62969044 + RNA SNP T T A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 62969044 62969044 T A SNP AMZ2P1 ENST00000397713 human ensembl 69_37n -1 known rna NULL NULL 0.670 - - - no_errors AMZ2P1 HGNC ENSG00000214174 63 0 0.00 52 32 38.10 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69421946 69421946 + Silent SNP T T C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 69421946 69421946 T C SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known silent c.1410 p.Y470 0.129 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 ANKRD20A4 HGNC ENSG00000172014 22 0 0.00 23 5 17.86 - - - ANKRD30B 0 genome.wustl.edu 37 18 14752623 14752623 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 18 14752623 14752623 G C SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.280 p.D94H 0.720 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 54 0 0.00 31 10 24.39 - - - ANKRD30B 0 genome.wustl.edu 37 18 14752623 14752623 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 18 14752623 14752623 G C SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.280 p.D94H 0.720 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 31 0 0.00 31 10 24.39 - - - ANKRD36 0 genome.wustl.edu 37 2 97783882 97783882 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 97783882 97783882 C T SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known silent c.279 p.L93 0.990 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 23 0 0.00 14 8 36.36 - - - ANKRD36 0 genome.wustl.edu 37 2 97783882 97783882 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 97783882 97783882 C T SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known silent c.279 p.L93 0.990 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 16 0 0.00 14 8 36.36 - - - ARFGEF2 0 genome.wustl.edu 37 20 47601269 47601269 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 47601269 47601269 C G SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.1962 p.F654L 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 220 0 0.00 186 75 28.74 - - - ARFGEF2 0 genome.wustl.edu 37 20 47601269 47601269 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 47601269 47601269 C G SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.1962 p.F654L 1.000 pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 172 0 0.00 186 75 28.74 - - - ARHGAP17 0 genome.wustl.edu 37 16 24965944 24965944 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 24965944 24965944 C T SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.832 p.E278K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 130 0 0.00 58 38 39.58 - - - ARHGAP17 0 genome.wustl.edu 37 16 24965944 24965944 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 24965944 24965944 C T SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.832 p.E278K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 107 1 0.93 58 38 39.58 - - - ARHGAP20 0 genome.wustl.edu 37 11 110450435 110450435 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 110450435 110450435 C T SNP ARHGAP20 ENST00000260283 human ensembl 69_37n -1 known missense c.3235 p.G1079S 0.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 108 0 0.00 36 54 59.34 - - - ARHGAP20 0 genome.wustl.edu 37 11 110450435 110450435 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 110450435 110450435 C T SNP ARHGAP20 ENST00000260283 human ensembl 69_37n -1 known missense c.3235 p.G1079S 0.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 49 0 0.00 36 54 59.34 - - - ARHGAP30 0 genome.wustl.edu 37 1 161026205 161026205 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 161026205 161026205 G C SNP ARHGAP30 ENST00000368013 human ensembl 69_37n -1 known silent c.318 p.L106 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 50 0 0.00 19 6 24.00 - - - ARHGAP30 0 genome.wustl.edu 37 1 161026205 161026205 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 161026205 161026205 G C SNP ARHGAP30 ENST00000368013 human ensembl 69_37n -1 known silent c.318 p.L106 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 12 0 0.00 19 6 24.00 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134755 119134755 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 119134755 119134755 G C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.3979 p.E1327Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 154 0 0.00 272 123 31.14 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134755 119134755 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 119134755 119134755 G C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.3979 p.E1327Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 581 1 0.17 272 123 31.14 - - - ARSB 0 genome.wustl.edu 37 5 78181569 78181569 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 5 78181569 78181569 C T SNP ARSB ENST00000264914 human ensembl 69_37n -1 known missense c.980 p.R327Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 176 0 0.00 147 64 30.19 - - - ARSB 0 genome.wustl.edu 37 5 78181569 78181569 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 5 78181569 78181569 C T SNP ARSB ENST00000264914 human ensembl 69_37n -1 known missense c.980 p.R327Q 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 201 0 0.00 147 64 30.19 - - - ARVCF 0 genome.wustl.edu 37 22 19959495 19959495 + Splice_Site SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 19959495 19959495 C G SNP ARVCF ENST00000263207 human ensembl 69_37n -1 known splice_site c.2696-1 e16-1 1.000 - - - no_errors ARVCF HGNC ENSG00000099889 26 0 0.00 9 5 35.71 - - - ARVCF 0 genome.wustl.edu 37 22 19959495 19959495 + Splice_Site SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 19959495 19959495 C G SNP ARVCF ENST00000263207 human ensembl 69_37n -1 known splice_site c.2696-1 e16-1 1.000 - - - no_errors ARVCF HGNC ENSG00000099889 16 0 0.00 9 5 35.71 - - - ASAH2 0 genome.wustl.edu 37 10 52003088 52003088 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 52003088 52003088 C T SNP ASAH2 ENST00000395526 human ensembl 69_37n -1 known silent c.384 p.Q128 0.999 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 380 0 0.00 202 80 28.37 - - - ASAH2 0 genome.wustl.edu 37 10 52003088 52003088 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 52003088 52003088 C T SNP ASAH2 ENST00000395526 human ensembl 69_37n -1 known silent c.384 p.Q128 0.999 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 216 0 0.00 202 80 28.37 - - - ASXL2 0 genome.wustl.edu 37 2 25972681 25972681 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 25972681 25972681 C G SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1744 p.E582Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 121 0 0.00 132 47 26.26 - - - ASXL2 0 genome.wustl.edu 37 2 25972681 25972681 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 25972681 25972681 C G SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known missense c.1744 p.E582Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 105 0 0.00 132 47 26.26 - - - ATP10A 0 genome.wustl.edu 37 15 25928589 25928589 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 25928589 25928589 G A SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known silent c.3336 p.F1112 1.000 tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 45 0 0.00 50 24 32.43 - - - ATP1A4 0 genome.wustl.edu 37 1 160136489 160136489 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 160136489 160136489 G C SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.1219 p.E407Q 0.973 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 176 0 0.00 79 62 43.97 - - - ATP1A4 0 genome.wustl.edu 37 1 160136489 160136489 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 160136489 160136489 G C SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.1219 p.E407Q 0.973 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 103 0 0.00 79 62 43.97 - - - ATP8B3 0 genome.wustl.edu 37 19 1783049 1783049 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 1783049 1783049 G A SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.3911 p.S1304L 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 9 0 0.00 4 7 63.64 - - - ATP8B3 0 genome.wustl.edu 37 19 1783049 1783049 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 1783049 1783049 G A SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known missense c.3911 p.S1304L 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 9 0 0.00 4 7 63.64 - - - ATXN10 0 genome.wustl.edu 37 22 46136266 46136266 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 46136266 46136266 C T SNP ATXN10 ENST00000252934 human ensembl 69_37n +1 known missense c.1021 p.H341Y 1.000 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 135 0 0.00 98 40 28.99 - - - ATXN10 0 genome.wustl.edu 37 22 46136266 46136266 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 46136266 46136266 C T SNP ATXN10 ENST00000252934 human ensembl 69_37n +1 known missense c.1021 p.H341Y 1.000 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 121 0 0.00 98 40 28.99 - - - AVPI1 0 genome.wustl.edu 37 10 99439583 99439583 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 99439583 99439583 G A SNP AVPI1 ENST00000370626 human ensembl 69_37n -1 known missense c.80 p.S27L 0.764 NULL NULL - no_errors AVPI1 HGNC ENSG00000119986 14 0 0.00 13 8 38.10 - - - BBS4 0 genome.wustl.edu 37 15 73024024 73024024 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 73024024 73024024 C T SNP BBS4 ENST00000566197 human ensembl 69_37n +1 novel missense c.2 p.S1L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BBS4 HGNC ENSG00000140463 200 0 0.00 129 52 28.73 - - - BBS4 0 genome.wustl.edu 37 15 73024024 73024024 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 73024024 73024024 C T SNP BBS4 ENST00000566197 human ensembl 69_37n +1 novel missense c.2 p.S1L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BBS4 HGNC ENSG00000140463 121 0 0.00 129 52 28.73 - - - BBS9 0 genome.wustl.edu 37 7 33545131 33545131 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 33545131 33545131 C T SNP BBS9 ENST00000434373 human ensembl 69_37n +1 known missense c.871 p.H291Y 0.397 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BBS9 HGNC ENSG00000122507 193 0 0.00 155 64 29.09 - - - BBS9 0 genome.wustl.edu 37 7 33545131 33545131 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 33545131 33545131 C T SNP BBS9 ENST00000434373 human ensembl 69_37n +1 known missense c.871 p.H291Y 0.397 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BBS9 HGNC ENSG00000122507 218 0 0.00 155 64 29.09 - - - BPTF 0 genome.wustl.edu 37 17 65916216 65916216 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 65916216 65916216 C G SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.5892 p.I1964M 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 203 0 0.00 309 67 17.82 - - - BPTF 0 genome.wustl.edu 37 17 65916216 65916216 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 65916216 65916216 C G SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.5892 p.I1964M 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 115 0 0.00 309 67 17.82 - - - BRWD1 0 genome.wustl.edu 37 21 40571393 40571393 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 21 40571393 40571393 G C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.4949 p.S1650C 0.730 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 212 0 0.00 183 109 37.33 - - - BRWD1 0 genome.wustl.edu 37 21 40571393 40571393 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 21 40571393 40571393 G C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.4949 p.S1650C 0.730 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 196 0 0.00 183 109 37.33 - - - C12orf36 0 genome.wustl.edu 37 12 13529169 13529169 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 13529169 13529169 C G SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known missense c.171 p.Q57H 0.001 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 231 0 0.00 116 82 41.41 - - - C12orf36 0 genome.wustl.edu 37 12 13529169 13529169 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 13529169 13529169 C G SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known missense c.171 p.Q57H 0.001 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 169 0 0.00 116 82 41.41 - - - C12orf66 0 genome.wustl.edu 37 12 64609478 64609478 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 64609478 64609478 G A SNP C12orf66 ENST00000398055 human ensembl 69_37n -1 known silent c.501 p.I167 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 75 0 0.00 66 28 29.79 - - - C12orf66 0 genome.wustl.edu 37 12 64609478 64609478 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 64609478 64609478 G A SNP C12orf66 ENST00000398055 human ensembl 69_37n -1 known silent c.501 p.I167 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 84 0 0.00 66 28 29.79 - - - C19orf53 0 genome.wustl.edu 37 19 13888907 13888907 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 13888907 13888907 G A SNP C19orf53 ENST00000588234 human ensembl 69_37n +1 known silent c.195 p.V65 0.140 pfam_UPF0390 pfam_UPF0390 - no_errors C19orf53 HGNC ENSG00000104979 283 1 0.35 98 47 32.41 - - - C19orf53 0 genome.wustl.edu 37 19 13888907 13888907 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 13888907 13888907 G A SNP C19orf53 ENST00000588234 human ensembl 69_37n +1 known silent c.195 p.V65 0.140 pfam_UPF0390 pfam_UPF0390 - no_errors C19orf53 HGNC ENSG00000104979 97 0 0.00 98 47 32.41 - - - C2orf16 0 genome.wustl.edu 37 2 27801094 27801094 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 27801094 27801094 C T SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.1655 p.S552L 0.007 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 213 0 0.00 151 58 27.75 - - - C2orf16 0 genome.wustl.edu 37 2 27801094 27801094 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 27801094 27801094 C T SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.1655 p.S552L 0.007 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 153 0 0.00 151 58 27.75 - - - C6orf10 0 genome.wustl.edu 37 6 32261367 32261367 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 32261367 32261367 C T SNP C6orf10 ENST00000447241 human ensembl 69_37n -1 known silent c.1083 p.L361 0.002 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 570 0 0.00 437 201 31.50 - - - C6orf10 0 genome.wustl.edu 37 6 32261367 32261367 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 32261367 32261367 C T SNP C6orf10 ENST00000447241 human ensembl 69_37n -1 known silent c.1083 p.L361 0.002 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 559 0 0.00 437 201 31.50 - - - C6orf62 0 genome.wustl.edu 37 6 24706365 24706365 + Nonstop_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 24706365 24706365 C G SNP C6orf62 ENST00000378119 human ensembl 69_37n -1 known nonstop c.690 p.*230Y 0.991 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 59 0 0.00 41 24 36.92 - - - C6orf62 0 genome.wustl.edu 37 6 24706365 24706365 + Nonstop_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 24706365 24706365 C G SNP C6orf62 ENST00000378119 human ensembl 69_37n -1 known nonstop c.690 p.*230Y 0.991 NULL NULL - no_errors C6orf62 HGNC ENSG00000112308 56 0 0.00 41 24 36.92 - - - C7orf10 0 genome.wustl.edu 37 7 40220545 40220545 + Splice_Site SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 40220545 40220545 G C SNP C7orf10 ENST00000309930 human ensembl 69_37n +1 known splice_site c.122-1 e2-1 0.995 - - - no_errors C7orf10 HGNC ENSG00000175600 278 0 0.00 316 126 28.44 - - - C7orf10 0 genome.wustl.edu 37 7 40220545 40220545 + Splice_Site SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 40220545 40220545 G C SNP C7orf10 ENST00000309930 human ensembl 69_37n +1 known splice_site c.122-1 e2-1 0.995 - - - no_errors C7orf10 HGNC ENSG00000175600 250 0 0.00 316 126 28.44 - - - CABIN1 0 genome.wustl.edu 37 22 24481034 24481034 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 24481034 24481034 C G SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known missense c.3193 p.H1065D 1.000 smart_TPR_repeat pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 130 0 0.00 60 32 34.41 - - - CABIN1 0 genome.wustl.edu 37 22 24481034 24481034 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 24481034 24481034 C G SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known missense c.3193 p.H1065D 1.000 smart_TPR_repeat pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 64 0 0.00 60 32 34.41 - - - CABP2 0 genome.wustl.edu 37 11 67287358 67287358 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 67287358 67287358 G A SNP CABP2 ENST00000294288 human ensembl 69_37n -1 known silent c.543 p.L181 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC ENSG00000167791 60 0 0.00 38 10 20.83 - - - CACNA1H 0 genome.wustl.edu 37 16 1270974 1270974 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 1270974 1270974 G A SNP CACNA1H ENST00000569107 human ensembl 69_37n +1 novel nonsense c.3281 p.W1094* 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CACNA1H HGNC ENSG00000196557 8 0 0.00 5 4 44.44 - - - CACNA1H 0 genome.wustl.edu 37 16 1270974 1270974 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 1270974 1270974 G A SNP CACNA1H ENST00000569107 human ensembl 69_37n +1 novel nonsense c.3281 p.W1094* 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CACNA1H HGNC ENSG00000196557 11 0 0.00 5 4 44.44 - - - CAMK2A 0 genome.wustl.edu 37 5 149636190 149636190 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 5 149636190 149636190 G C SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known missense c.357 p.I119M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 34 0 0.00 13 5 27.78 - - - CAMK2A 0 genome.wustl.edu 37 5 149636190 149636190 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 5 149636190 149636190 G C SNP CAMK2A ENST00000398376 human ensembl 69_37n -1 known missense c.357 p.I119M 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 14 0 0.00 13 5 27.78 - - - CAPN2 0 genome.wustl.edu 37 1 223940585 223940585 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 223940585 223940585 G A SNP CAPN2 ENST00000295006 human ensembl 69_37n +1 known silent c.1062 p.K354 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 142 0 0.00 37 16 30.19 - - - CAPN2 0 genome.wustl.edu 37 1 223940585 223940585 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 223940585 223940585 G A SNP CAPN2 ENST00000295006 human ensembl 69_37n +1 known silent c.1062 p.K354 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 66 0 0.00 37 16 30.19 - - - CC2D1A 0 genome.wustl.edu 37 19 14029787 14029787 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 14029787 14029787 G C SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known missense c.1081 p.V361L 0.001 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 21 0 0.00 14 8 36.36 - - - CC2D1A 0 genome.wustl.edu 37 19 14029787 14029787 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 14029787 14029787 G C SNP CC2D1A ENST00000318003 human ensembl 69_37n +1 known missense c.1081 p.V361L 0.001 smart_DM14 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1A HGNC ENSG00000132024 14 0 0.00 14 8 36.36 - - - CCDC172 0 genome.wustl.edu 37 10 118138002 118138002 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 118138002 118138002 G A SNP CCDC172 ENST00000333254 human ensembl 69_37n +1 known missense c.721 p.E241K 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 68 0 0.00 57 20 25.97 - - - CCDC172 0 genome.wustl.edu 37 10 118138002 118138002 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 118138002 118138002 G A SNP CCDC172 ENST00000333254 human ensembl 69_37n +1 known missense c.721 p.E241K 1.000 NULL NULL - no_errors CCDC172 HGNC ENSG00000182645 53 0 0.00 57 20 25.97 - - - CCDC42 0 genome.wustl.edu 37 17 8647906 8647906 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 8647906 8647906 C G SNP CCDC42 ENST00000293845 human ensembl 69_37n -1 known missense c.22 p.E8Q 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 37 0 0.00 22 12 35.29 - - - CCDC42 0 genome.wustl.edu 37 17 8647906 8647906 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 8647906 8647906 C G SNP CCDC42 ENST00000293845 human ensembl 69_37n -1 known missense c.22 p.E8Q 1.000 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 45 0 0.00 22 12 35.29 - - - CCDC74B 0 genome.wustl.edu 37 2 130898813 130898813 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 130898813 130898813 G A SNP CCDC74B ENST00000392984 human ensembl 69_37n -1 known missense c.907 p.P303S 0.003 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 27 0 0.00 13 3 18.75 - - - CCDC74B 0 genome.wustl.edu 37 2 130898813 130898813 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 130898813 130898813 G A SNP CCDC74B ENST00000392984 human ensembl 69_37n -1 known missense c.907 p.P303S 0.003 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 37 0 0.00 13 3 18.75 - - - CCDC88A 0 genome.wustl.edu 37 2 55522603 55522603 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 55522603 55522603 C T SNP CCDC88A ENST00000426576 human ensembl 69_37n -1 putative missense c.3206 p.R1069K 0.555 NULL NULL - no_start_codon CCDC88A HGNC ENSG00000115355 43 0 0.00 35 21 37.50 - - - CCDC88A 0 genome.wustl.edu 37 2 55522603 55522603 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 55522603 55522603 C T SNP CCDC88A ENST00000426576 human ensembl 69_37n -1 putative missense c.3206 p.R1069K 0.555 NULL NULL - no_start_codon CCDC88A HGNC ENSG00000115355 64 0 0.00 35 21 37.50 - - - CCL21 0 genome.wustl.edu 37 9 34709557 34709557 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 34709557 34709557 C T SNP CCL21 ENST00000259607 human ensembl 69_37n -1 known missense c.311 p.R104K 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL21 HGNC ENSG00000137077 109 0 0.00 97 36 26.87 - - - CCL21 0 genome.wustl.edu 37 9 34709557 34709557 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 34709557 34709557 C T SNP CCL21 ENST00000259607 human ensembl 69_37n -1 known missense c.311 p.R104K 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL21 HGNC ENSG00000137077 109 0 0.00 97 36 26.87 - - - CDCP1 0 genome.wustl.edu 37 3 45134773 45134773 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 45134773 45134773 G A SNP CDCP1 ENST00000296129 human ensembl 69_37n -1 known silent c.1623 p.F541 0.973 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 94 0 0.00 60 36 37.50 - - - CDCP1 0 genome.wustl.edu 37 3 45134773 45134773 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 45134773 45134773 G A SNP CDCP1 ENST00000296129 human ensembl 69_37n -1 known silent c.1623 p.F541 0.973 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 182 0 0.00 60 36 37.50 - - - CEP350 0 genome.wustl.edu 37 1 180034352 180034352 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 180034352 180034352 G A SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.5512 p.E1838K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 58 0 0.00 44 44 50.00 - - - CEP350 0 genome.wustl.edu 37 1 180034352 180034352 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 180034352 180034352 G A SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.5512 p.E1838K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 52 0 0.00 44 44 50.00 - - - CEP85 0 genome.wustl.edu 37 1 26603638 26603638 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 26603638 26603638 G C SNP CEP85 ENST00000252992 human ensembl 69_37n +1 known missense c.2143 p.E715Q 0.176 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 307 0 0.00 134 104 43.51 - - - CEP85 0 genome.wustl.edu 37 1 26603638 26603638 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 26603638 26603638 G C SNP CEP85 ENST00000252992 human ensembl 69_37n +1 known missense c.2143 p.E715Q 0.176 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 465 0 0.00 134 104 43.51 - - - CERCAM 0 genome.wustl.edu 37 9 131196437 131196437 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 131196437 131196437 G A SNP CERCAM ENST00000372838 human ensembl 69_37n +1 known silent c.1260 p.E420 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 43 0 0.00 23 10 30.30 - - - CERCAM 0 genome.wustl.edu 37 9 131196437 131196437 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 131196437 131196437 G A SNP CERCAM ENST00000372838 human ensembl 69_37n +1 known silent c.1260 p.E420 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 23 0 0.00 23 10 30.30 - - - CHD5 0 genome.wustl.edu 37 1 6214772 6214773 + Frame_Shift_Ins INS - - G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 6214772 6214773 - G INS CHD5 ENST00000262450 human ensembl 69_37n -1 known frame_shift_ins c.693_692 p.Q232fs 0.987:0.981 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 14 0 0.00 4 2 33.33 - - - CHD5 0 genome.wustl.edu 37 1 6214772 6214773 + Frame_Shift_Ins INS - - G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 6214772 6214773 - G INS CHD5 ENST00000262450 human ensembl 69_37n -1 known frame_shift_ins c.693_692 p.Q232fs 0.987:0.981 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 13 0 0.00 4 2 33.33 - - - CHD7 0 genome.wustl.edu 37 8 61654206 61654206 + Missense_Mutation SNP A A G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 61654206 61654206 A G SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.215 p.Y72C 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 60 0 0.00 57 17 22.97 - - - CHPF2 0 genome.wustl.edu 37 7 150932659 150932659 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 150932659 150932659 C T SNP CHPF2 ENST00000035307 human ensembl 69_37n +1 known silent c.789 p.L263 1.000 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 36 0 0.00 6 12 66.67 - - - CLRN2 0 genome.wustl.edu 37 4 17528651 17528651 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 17528651 17528651 G A SNP CLRN2 ENST00000511148 human ensembl 69_37n +1 known silent c.645 p.E215 0.997 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 204 0 0.00 126 64 33.68 - - - CLRN2 0 genome.wustl.edu 37 4 17528651 17528651 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 17528651 17528651 G A SNP CLRN2 ENST00000511148 human ensembl 69_37n +1 known silent c.645 p.E215 0.997 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 87 0 0.00 126 64 33.68 - - - CLSTN3 0 genome.wustl.edu 37 12 7294698 7294698 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 7294698 7294698 G C SNP CLSTN3 ENST00000266546 human ensembl 69_37n +1 known missense c.1503 p.E501D 1.000 superfamily_ConA-like_lec_gl pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 401 0 0.00 279 113 28.46 - - - CLSTN3 0 genome.wustl.edu 37 12 7294698 7294698 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 7294698 7294698 G C SNP CLSTN3 ENST00000266546 human ensembl 69_37n +1 known missense c.1503 p.E501D 1.000 superfamily_ConA-like_lec_gl pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 173 0 0.00 279 113 28.46 - - - COL22A1 0 genome.wustl.edu 37 8 139606409 139606409 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 139606409 139606409 G A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.4466 p.P1489L 0.998 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 58 0 0.00 34 48 58.54 - - - COL22A1 0 genome.wustl.edu 37 8 139606409 139606409 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 139606409 139606409 G A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.4466 p.P1489L 0.998 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 57 0 0.00 34 48 58.54 - - - COL3A1 0 genome.wustl.edu 37 2 189875538 189875538 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 189875538 189875538 G C SNP COL3A1 ENST00000304636 human ensembl 69_37n +1 known silent c.4176 p.L1392 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 147 0 0.00 92 39 29.77 - - - COL3A1 0 genome.wustl.edu 37 2 189875538 189875538 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 189875538 189875538 G C SNP COL3A1 ENST00000304636 human ensembl 69_37n +1 known silent c.4176 p.L1392 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 95 0 0.00 92 39 29.77 - - - COQ3 0 genome.wustl.edu 37 6 99817588 99817588 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 99817588 99817588 G A SNP COQ3 ENST00000254759 human ensembl 69_37n -1 known missense c.998 p.S333F 0.911 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 180 0 0.00 221 104 32.00 - - - COQ3 0 genome.wustl.edu 37 6 99817588 99817588 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 99817588 99817588 G A SNP COQ3 ENST00000254759 human ensembl 69_37n -1 known missense c.998 p.S333F 0.911 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 200 0 0.00 221 104 32.00 - - - COX20 0 genome.wustl.edu 37 1 245006446 245006446 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 245006446 245006446 G C SNP COX20 ENST00000366528 human ensembl 69_37n +1 known missense c.361 p.E121Q 1.000 NULL pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 145 0 0.00 123 37 23.12 - - - COX20 0 genome.wustl.edu 37 1 245006446 245006446 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 245006446 245006446 G C SNP COX20 ENST00000366528 human ensembl 69_37n +1 known missense c.361 p.E121Q 1.000 NULL pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 197 0 0.00 123 37 23.12 - - - CROCC 0 genome.wustl.edu 37 1 17292567 17292567 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 17292567 17292567 C A SNP CROCC ENST00000375541 human ensembl 69_37n +1 known missense c.4649 p.T1550N 0.000 superfamily_t-SNARE superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 20 0 0.00 10 4 28.57 - - - CSF2RA 0 genome.wustl.edu 37 X 1407734 1407734 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 1407734 1407734 G A SNP CSF2RA ENST00000417535 human ensembl 69_37n +1 known silent c.426 p.P142 0.000 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 496 1 0.20 265 131 33.00 - - - CSF2RA 0 genome.wustl.edu 37 X 1407734 1407734 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 1407734 1407734 G A SNP CSF2RA ENST00000417535 human ensembl 69_37n +1 known silent c.426 p.P142 0.000 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 131 0 0.00 265 131 33.00 - - - CUL7 0 genome.wustl.edu 37 6 43010724 43010724 + Splice_Site SNP T T G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 43010724 43010724 T G SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known splice_site c.3715-2 e19-2 1.000 - - - no_errors CUL7 HGNC ENSG00000044090 172 0 0.00 70 28 28.57 - - - CUL7 0 genome.wustl.edu 37 6 43010724 43010724 + Splice_Site SNP T T G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 43010724 43010724 T G SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known splice_site c.3715-2 e19-2 1.000 - - - no_errors CUL7 HGNC ENSG00000044090 92 0 0.00 70 28 28.57 - - - CYP4X1 0 genome.wustl.edu 37 1 47501739 47501739 + Missense_Mutation SNP T T G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 47501739 47501739 T G SNP CYP4X1 ENST00000371901 human ensembl 69_37n +1 known missense c.671 p.F224C 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 279 0 0.00 99 68 40.72 - - - CYP4X1 0 genome.wustl.edu 37 1 47501739 47501739 + Missense_Mutation SNP T T G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 47501739 47501739 T G SNP CYP4X1 ENST00000371901 human ensembl 69_37n +1 known missense c.671 p.F224C 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC ENSG00000186377 168 0 0.00 99 68 40.72 - - - DDX11 0 genome.wustl.edu 37 12 31244703 31244703 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 31244703 31244703 C T SNP DDX11 ENST00000407793 human ensembl 69_37n +1 known silent c.1140 p.A380 0.617 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 26 0 0.00 12 4 25.00 - - - DENND1B 0 genome.wustl.edu 37 1 197479960 197479960 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 197479960 197479960 G C SNP DENND1B ENST00000391979 human ensembl 69_37n -1 putative missense c.878 p.S293C 0.841 NULL NULL - no_start_codon DENND1B HGNC ENSG00000213047 106 0 0.00 178 75 29.64 - - - DENND1B 0 genome.wustl.edu 37 1 197479960 197479960 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 197479960 197479960 G C SNP DENND1B ENST00000391979 human ensembl 69_37n -1 putative missense c.878 p.S293C 0.841 NULL NULL - no_start_codon DENND1B HGNC ENSG00000213047 172 0 0.00 178 75 29.64 - - - DEPDC1B 0 genome.wustl.edu 37 5 59941334 59941334 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 5 59941334 59941334 G A SNP DEPDC1B ENST00000265036 human ensembl 69_37n -1 known missense c.563 p.S188F 1.000 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 124 0 0.00 103 19 15.57 - - - DEPDC1B 0 genome.wustl.edu 37 5 59941334 59941334 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 5 59941334 59941334 G A SNP DEPDC1B ENST00000265036 human ensembl 69_37n -1 known missense c.563 p.S188F 1.000 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 77 0 0.00 103 19 15.57 - - - DNAH11 0 genome.wustl.edu 37 7 21813441 21813441 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 21813441 21813441 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.9181 p.E3061Q 0.760 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 50 0 0.00 34 19 35.19 - - - DNAH11 0 genome.wustl.edu 37 7 21813441 21813441 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 21813441 21813441 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.9181 p.E3061Q 0.760 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 33 0 0.00 34 19 35.19 - - - DNAH8 0 genome.wustl.edu 37 6 38891783 38891783 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 38891783 38891783 C G SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.10156 p.L3386V 0.702 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 336 0 0.00 270 115 29.87 - - - DNAH8 0 genome.wustl.edu 37 6 38891783 38891783 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 38891783 38891783 C G SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.10156 p.L3386V 0.702 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 189 0 0.00 270 115 29.87 - - - DOCK4 0 genome.wustl.edu 37 7 111575671 111575671 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 111575671 111575671 C T SNP DOCK4 ENST00000445943 human ensembl 69_37n -1 novel missense c.953 p.R318K 1.000 NULL pfam_DOCK,superfamily_SH3_domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK4 HGNC ENSG00000128512 305 0 0.00 144 26 15.29 - - - DOCK4 0 genome.wustl.edu 37 7 111575671 111575671 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 111575671 111575671 C T SNP DOCK4 ENST00000445943 human ensembl 69_37n -1 novel missense c.953 p.R318K 1.000 NULL pfam_DOCK,superfamily_SH3_domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK4 HGNC ENSG00000128512 165 1 0.60 144 26 15.29 - - - DPEP3 0 genome.wustl.edu 37 16 68014005 68014005 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 68014005 68014005 G A SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known silent c.354 p.L118 0.029 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 70 0 0.00 10 7 41.18 - - - DPEP3 0 genome.wustl.edu 37 16 68014005 68014005 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 68014005 68014005 G A SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known silent c.354 p.L118 0.029 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 15 0 0.00 10 7 41.18 - - - DTX1 0 genome.wustl.edu 37 12 113515419 113515419 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 113515419 113515419 C T SNP DTX1 ENST00000257600 human ensembl 69_37n +1 known silent c.450 p.L150 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 31 0 0.00 9 7 41.18 - - - DTX1 0 genome.wustl.edu 37 12 113515419 113515419 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 113515419 113515419 C T SNP DTX1 ENST00000257600 human ensembl 69_37n +1 known silent c.450 p.L150 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 11 0 0.00 9 7 41.18 - - - DUSP18 0 genome.wustl.edu 37 22 31059955 31059955 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 31059955 31059955 G A SNP DUSP18 ENST00000334679 human ensembl 69_37n -1 known silent c.36 p.F12 0.017 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP18 HGNC ENSG00000167065 132 0 0.00 68 22 24.44 - - - DUSP18 0 genome.wustl.edu 37 22 31059955 31059955 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 31059955 31059955 G A SNP DUSP18 ENST00000334679 human ensembl 69_37n -1 known silent c.36 p.F12 0.017 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP18 HGNC ENSG00000167065 54 0 0.00 68 22 24.44 - - - DZANK1 0 genome.wustl.edu 37 20 18429657 18429657 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 18429657 18429657 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.600 p.M200I 0.880 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 206 0 0.00 236 91 27.83 - - - DZANK1 0 genome.wustl.edu 37 20 18429657 18429657 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 18429657 18429657 C T SNP DZANK1 ENST00000262547 human ensembl 69_37n -1 known missense c.600 p.M200I 0.880 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 214 0 0.00 236 91 27.83 - - - ECHDC1 0 genome.wustl.edu 37 6 127648195 127648195 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 127648195 127648195 G C SNP ECHDC1 ENST00000531967 human ensembl 69_37n -1 known missense c.333 p.F111L 0.997 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC1 HGNC ENSG00000093144 216 0 0.00 218 88 28.66 - - - ECHDC1 0 genome.wustl.edu 37 6 127648195 127648195 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 127648195 127648195 G C SNP ECHDC1 ENST00000531967 human ensembl 69_37n -1 known missense c.333 p.F111L 0.997 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECHDC1 HGNC ENSG00000093144 193 0 0.00 218 88 28.66 - - - EFTUD2 0 genome.wustl.edu 37 17 42929858 42929858 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 42929858 42929858 G A SNP EFTUD2 ENST00000426333 human ensembl 69_37n -1 known silent c.2634 p.I878 0.806 pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_C pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 78 0 0.00 41 36 46.75 - - - EFTUD2 0 genome.wustl.edu 37 17 42929858 42929858 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 42929858 42929858 G A SNP EFTUD2 ENST00000426333 human ensembl 69_37n -1 known silent c.2634 p.I878 0.806 pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_C pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 66 0 0.00 41 36 46.75 - - - EGR3 0 genome.wustl.edu 37 8 22548021 22548022 + Frame_Shift_Ins INS - - G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 22548021 22548022 - G INS EGR3 ENST00000317216 human ensembl 69_37n -1 known frame_shift_ins c.1129_1128 p.V376fs 0.964:0.017 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 27 0 0.00 13 3 18.75 - - - EGR3 0 genome.wustl.edu 37 8 22548021 22548022 + Frame_Shift_Ins INS - - G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 22548021 22548022 - G INS EGR3 ENST00000317216 human ensembl 69_37n -1 known frame_shift_ins c.1129_1128 p.V376fs 0.964:0.017 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 26 0 0.00 13 3 18.75 - - - ELF1 0 genome.wustl.edu 37 13 41515065 41515065 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 41515065 41515065 C G SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known missense c.1248 p.Q416H 0.995 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 122 0 0.00 119 60 33.52 - - - ELF1 0 genome.wustl.edu 37 13 41515065 41515065 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 41515065 41515065 C G SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known missense c.1248 p.Q416H 0.995 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 134 0 0.00 119 60 33.52 - - - ELF1 0 genome.wustl.edu 37 13 41515219 41515219 + Nonsense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 41515219 41515219 G C SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known nonsense c.1094 p.S365* 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 203 0 0.00 239 72 23.15 - - - ELF1 0 genome.wustl.edu 37 13 41515219 41515219 + Nonsense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 41515219 41515219 G C SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known nonsense c.1094 p.S365* 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 230 0 0.00 239 72 23.15 - - - ELK3 0 genome.wustl.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 96641028 96641029 - C INS ELK3 ENST00000228741 human ensembl 69_37n +1 known frame_shift_ins c.518_519 p.V176fs 0.017:0.019 NULL pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELK3 HGNC ENSG00000111145 46 0 0.00 58 7 10.77 - - - EP300 0 genome.wustl.edu 37 22 41573738 41573738 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 41573738 41573738 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.6023 p.S2008F 0.684 pfam_Nuc_rcpt_coact_CREBbp pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 168 1 0.59 137 51 27.13 - - - EP300 0 genome.wustl.edu 37 22 41573738 41573738 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 41573738 41573738 C T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.6023 p.S2008F 0.684 pfam_Nuc_rcpt_coact_CREBbp pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 119 0 0.00 137 51 27.13 - - - ERCC6L 0 genome.wustl.edu 37 X 71426743 71426743 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 71426743 71426743 C G SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known missense c.1874 p.R625T 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 184 0 0.00 246 84 25.45 - - - ERCC6L 0 genome.wustl.edu 37 X 71426743 71426743 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 71426743 71426743 C G SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known missense c.1874 p.R625T 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 505 0 0.00 246 84 25.45 - - - FADS2 0 genome.wustl.edu 37 11 61583860 61583860 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 61583860 61583860 C T SNP FADS2 ENST00000257261 human ensembl 69_37n +1 known missense c.103 p.H35Y 0.001 pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase - no_errors FADS2 HGNC ENSG00000134824 30 0 0.00 8 10 55.56 - - - FADS2 0 genome.wustl.edu 37 11 61583860 61583860 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 61583860 61583860 C T SNP FADS2 ENST00000257261 human ensembl 69_37n +1 known missense c.103 p.H35Y 0.001 pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase - no_errors FADS2 HGNC ENSG00000134824 18 0 0.00 8 10 55.56 - - - FAM114A1 0 genome.wustl.edu 37 4 38879718 38879718 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 38879718 38879718 G A SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known missense c.19 p.D7N 0.663 NULL pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 91 0 0.00 65 31 32.29 - - - FAM114A1 0 genome.wustl.edu 37 4 38879718 38879718 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 38879718 38879718 G A SNP FAM114A1 ENST00000358869 human ensembl 69_37n +1 known missense c.19 p.D7N 0.663 NULL pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 60 0 0.00 65 31 32.29 - - - FAM160B1 0 genome.wustl.edu 37 10 116593004 116593004 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 116593004 116593004 C T SNP FAM160B1 ENST00000369248 human ensembl 69_37n +1 known missense c.137 p.P46L 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 108 0 0.00 104 40 27.78 - - - FAM160B1 0 genome.wustl.edu 37 10 116593004 116593004 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 116593004 116593004 C T SNP FAM160B1 ENST00000369248 human ensembl 69_37n +1 known missense c.137 p.P46L 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 179 0 0.00 104 40 27.78 - - - FAM46C 0 genome.wustl.edu 37 1 118166486 118166486 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 118166486 118166486 C T SNP FAM46C ENST00000369448 human ensembl 69_37n +1 known silent c.996 p.L332 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 200 0 0.00 71 54 43.20 - - - FAM46C 0 genome.wustl.edu 37 1 118166486 118166486 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 118166486 118166486 C T SNP FAM46C ENST00000369448 human ensembl 69_37n +1 known silent c.996 p.L332 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 93 0 0.00 71 54 43.20 - - - FAM47B 0 genome.wustl.edu 37 X 34961041 34961041 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 34961041 34961041 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known silent c.93 p.A31 0.000 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 83 0 0.00 71 42 37.17 - - - FAM47B 0 genome.wustl.edu 37 X 34961041 34961041 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 34961041 34961041 G A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known silent c.93 p.A31 0.000 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 77 0 0.00 71 42 37.17 - - - FAM83B 0 genome.wustl.edu 37 6 54806423 54806423 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 54806423 54806423 C T SNP FAM83B ENST00000306858 human ensembl 69_37n +1 known missense c.2654 p.S885F 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 363 0 0.00 199 79 28.42 - - - FAM83B 0 genome.wustl.edu 37 6 54806423 54806423 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 54806423 54806423 C T SNP FAM83B ENST00000306858 human ensembl 69_37n +1 known missense c.2654 p.S885F 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 148 0 0.00 199 79 28.42 - - - FBXO39 0 genome.wustl.edu 37 17 6690652 6690652 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 6690652 6690652 G A SNP FBXO39 ENST00000321535 human ensembl 69_37n +1 known missense c.1234 p.E412K 0.986 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 251 0 0.00 97 69 41.57 - - - FBXO39 0 genome.wustl.edu 37 17 6690652 6690652 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 6690652 6690652 G A SNP FBXO39 ENST00000321535 human ensembl 69_37n +1 known missense c.1234 p.E412K 0.986 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 166 0 0.00 97 69 41.57 - - - FCGBP 0 genome.wustl.edu 37 19 40377034 40377034 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 40377034 40377034 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.11388 p.N3796 0.470 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 43 0 0.00 19 7 26.92 - - - FCRL3 0 genome.wustl.edu 37 1 157659599 157659599 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 157659599 157659599 C T SNP FCRL3 ENST00000368186 human ensembl 69_37n -1 known missense c.1799 p.R600Q 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 99 0 0.00 72 35 32.71 - - - FCRL3 0 genome.wustl.edu 37 1 157659599 157659599 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 157659599 157659599 C T SNP FCRL3 ENST00000368186 human ensembl 69_37n -1 known missense c.1799 p.R600Q 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL3 HGNC ENSG00000160856 73 0 0.00 72 35 32.71 - - - FERD3L 0 genome.wustl.edu 37 7 19184707 19184707 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 19184707 19184707 C T SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known silent c.279 p.K93 1.000 pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 77 0 0.00 52 23 30.67 - - - FERD3L 0 genome.wustl.edu 37 7 19184707 19184707 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 19184707 19184707 C T SNP FERD3L ENST00000275461 human ensembl 69_37n -1 known silent c.279 p.K93 1.000 pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FERD3L HGNC ENSG00000146618 64 0 0.00 52 23 30.67 - - - FGA 0 genome.wustl.edu 37 4 155507703 155507703 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 155507703 155507703 C A SNP FGA ENST00000302053 human ensembl 69_37n -1 known missense c.878 p.G293V 0.903 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 245 0 0.00 161 75 31.78 - - - FGA 0 genome.wustl.edu 37 4 155507703 155507703 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 155507703 155507703 C A SNP FGA ENST00000302053 human ensembl 69_37n -1 known missense c.878 p.G293V 0.903 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC ENSG00000171560 185 0 0.00 161 75 31.78 - - - FLG 0 genome.wustl.edu 37 1 152279083 152279083 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 152279083 152279083 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8279 p.R2760T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 153 0 0.00 196 38 16.24 - - - FLG 0 genome.wustl.edu 37 1 152279083 152279083 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 152279083 152279083 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.8279 p.R2760T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 235 0 0.00 196 38 16.24 - - - FMO2 0 genome.wustl.edu 37 1 171154948 171154948 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 171154948 171154948 G C SNP FMO2 ENST00000209929 human ensembl 69_37n +1 known missense c.96 p.E32D 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 244 0 0.00 198 68 25.47 - - - FMO2 0 genome.wustl.edu 37 1 171154948 171154948 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 171154948 171154948 G C SNP FMO2 ENST00000209929 human ensembl 69_37n +1 known missense c.96 p.E32D 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 229 0 0.00 198 68 25.47 - - - FNDC1 0 genome.wustl.edu 37 6 159650875 159650875 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 159650875 159650875 C G SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known silent c.1209 p.L403 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 289 1 0.34 213 97 31.09 - - - FNDC1 0 genome.wustl.edu 37 6 159650875 159650875 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 159650875 159650875 C G SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known silent c.1209 p.L403 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 429 0 0.00 213 97 31.09 - - - FOXP1 0 genome.wustl.edu 37 3 71247211 71247211 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 71247211 71247211 G C SNP FOXP1 ENST00000318779 human ensembl 69_37n -1 putative silent c.189 p.L63 0.000 NULL NULL - no_errors FOXP1 HGNC ENSG00000114861 275 0 0.00 35 11 23.91 - - - FOXP1 0 genome.wustl.edu 37 3 71247211 71247211 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 71247211 71247211 G C SNP FOXP1 ENST00000318779 human ensembl 69_37n -1 putative silent c.189 p.L63 0.000 NULL NULL - no_errors FOXP1 HGNC ENSG00000114861 85 0 0.00 35 11 23.91 - - - FRAS1 0 genome.wustl.edu 37 4 79188530 79188530 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 79188530 79188530 G A SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.925 p.D309N 0.012 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 39 0 0.00 13 6 30.00 - - - FRAS1 0 genome.wustl.edu 37 4 79188530 79188530 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 79188530 79188530 G A SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.925 p.D309N 0.012 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 33 0 0.00 13 6 30.00 - - - FTSJD1 0 genome.wustl.edu 37 16 71319082 71319082 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 71319082 71319082 C G SNP FTSJD1 ENST00000338099 human ensembl 69_37n -1 known missense c.742 p.E248Q 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 233 0 0.00 98 78 44.32 - - - FTSJD1 0 genome.wustl.edu 37 16 71319082 71319082 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 71319082 71319082 C G SNP FTSJD1 ENST00000338099 human ensembl 69_37n -1 known missense c.742 p.E248Q 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJD1 HGNC ENSG00000180917 230 0 0.00 98 78 44.32 - - - FUT11 0 genome.wustl.edu 37 10 75532727 75532727 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 75532727 75532727 C G SNP FUT11 ENST00000372841 human ensembl 69_37n +1 known silent c.636 p.L212 0.994 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 38 0 0.00 16 8 33.33 - - - FUT11 0 genome.wustl.edu 37 10 75532727 75532727 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 75532727 75532727 C G SNP FUT11 ENST00000372841 human ensembl 69_37n +1 known silent c.636 p.L212 0.994 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 18 0 0.00 16 8 33.33 - - - GOLGA4 0 genome.wustl.edu 37 3 37367848 37367848 + Nonsense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 37367848 37367848 C T SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known nonsense c.4471 p.Q1491* 0.397 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 291 0 0.00 307 143 31.78 - - - GOLGA4 0 genome.wustl.edu 37 3 37367848 37367848 + Nonsense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 37367848 37367848 C T SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known nonsense c.4471 p.Q1491* 0.397 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 298 0 0.00 307 143 31.78 - - - GOLGA4 0 genome.wustl.edu 37 3 37368485 37368485 + Nonsense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 37368485 37368485 C G SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known nonsense c.5108 p.S1703* 0.279 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 595 0 0.00 543 260 32.34 - - - GOLGA4 0 genome.wustl.edu 37 3 37368485 37368485 + Nonsense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 37368485 37368485 C G SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known nonsense c.5108 p.S1703* 0.279 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 551 0 0.00 543 260 32.34 - - - GORAB 0 genome.wustl.edu 37 1 170501403 170501403 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 170501403 170501403 G C SNP GORAB ENST00000367763 human ensembl 69_37n +1 known silent c.114 p.L38 1.000 NULL pfam_Golgin_RAB6-interacting - no_errors GORAB HGNC ENSG00000120370 106 0 0.00 66 19 22.35 - - - GORAB 0 genome.wustl.edu 37 1 170501403 170501403 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 170501403 170501403 G C SNP GORAB ENST00000367763 human ensembl 69_37n +1 known silent c.114 p.L38 1.000 NULL pfam_Golgin_RAB6-interacting - no_errors GORAB HGNC ENSG00000120370 55 0 0.00 66 19 22.35 - - - GPR17 0 genome.wustl.edu 37 2 128409206 128409206 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 128409206 128409206 C T SNP GPR17 ENST00000272644 human ensembl 69_37n +1 known silent c.981 p.F327 0.547 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 26 0 0.00 10 11 52.38 - - - GPR17 0 genome.wustl.edu 37 2 128409206 128409206 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 128409206 128409206 C T SNP GPR17 ENST00000272644 human ensembl 69_37n +1 known silent c.981 p.F327 0.547 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 20 0 0.00 10 11 52.38 - - - GRIA3 0 genome.wustl.edu 37 X 122528932 122528932 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 122528932 122528932 G A SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known silent c.864 p.V288 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 231 0 0.00 281 125 30.79 - - - GRIA3 0 genome.wustl.edu 37 X 122528932 122528932 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 122528932 122528932 G A SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known silent c.864 p.V288 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 293 0 0.00 281 125 30.79 - - - GSPT1 0 genome.wustl.edu 37 16 11971338 11971338 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 11971338 11971338 C G SNP GSPT1 ENST00000434724 human ensembl 69_37n -1 known missense c.1528 p.E510Q 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT1 HGNC ENSG00000103342 98 0 0.00 97 32 24.81 - - - GSPT1 0 genome.wustl.edu 37 16 11971338 11971338 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 11971338 11971338 C G SNP GSPT1 ENST00000434724 human ensembl 69_37n -1 known missense c.1528 p.E510Q 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT1 HGNC ENSG00000103342 68 0 0.00 97 32 24.81 - - - HCAR1 0 genome.wustl.edu 37 12 123214247 123214247 + Silent SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 123214247 123214247 G T SNP HCAR1 ENST00000356987 human ensembl 69_37n -1 known silent c.640 p.R214 0.868 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors HCAR1 HGNC ENSG00000196917 210 0 0.00 125 63 33.33 - - - HCAR1 0 genome.wustl.edu 37 12 123214247 123214247 + Silent SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 123214247 123214247 G T SNP HCAR1 ENST00000356987 human ensembl 69_37n -1 known silent c.640 p.R214 0.868 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors HCAR1 HGNC ENSG00000196917 98 0 0.00 125 63 33.33 - - - HERC5 0 genome.wustl.edu 37 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 89388332 89388332 C A SNP HERC5 ENST00000264350 human ensembl 69_37n +1 known nonsense c.1034 p.S345* 0.324 pfam_Reg_chr_condens,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 294 0 0.00 137 48 25.95 - - - HERC5 0 genome.wustl.edu 37 4 89388332 89388332 + Nonsense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 89388332 89388332 C A SNP HERC5 ENST00000264350 human ensembl 69_37n +1 known nonsense c.1034 p.S345* 0.324 pfam_Reg_chr_condens,pfscan_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 96 0 0.00 137 48 25.95 - - - HIST1H1C 0 genome.wustl.edu 37 6 26056039 26056039 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 26056039 26056039 C A SNP HIST1H1C ENST00000343677 human ensembl 69_37n -1 known missense c.618 p.K206N 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 55 0 0.00 58 28 32.56 - - - HIST1H1C 0 genome.wustl.edu 37 6 26056039 26056039 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 26056039 26056039 C A SNP HIST1H1C ENST00000343677 human ensembl 69_37n -1 known missense c.618 p.K206N 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 60 0 0.00 58 28 32.56 - - - HOOK1 0 genome.wustl.edu 37 1 60336717 60336717 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 60336717 60336717 G A SNP HOOK1 ENST00000371208 human ensembl 69_37n +1 known missense c.1951 p.E651K 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 27 0 0.00 14 16 53.33 - - - HOOK1 0 genome.wustl.edu 37 1 60336717 60336717 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 60336717 60336717 G A SNP HOOK1 ENST00000371208 human ensembl 69_37n +1 known missense c.1951 p.E651K 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 49 0 0.00 14 16 53.33 - - - HPS4 0 genome.wustl.edu 37 22 26868878 26868878 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 26868878 26868878 C G SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known missense c.289 p.D97H 0.898 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 207 0 0.00 120 53 30.64 - - - HPS4 0 genome.wustl.edu 37 22 26868878 26868878 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 26868878 26868878 C G SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known missense c.289 p.D97H 0.898 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 139 0 0.00 120 53 30.64 - - - HS3ST5 0 genome.wustl.edu 37 6 114379009 114379009 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 114379009 114379009 G A SNP HS3ST5 ENST00000312719 human ensembl 69_37n -1 known silent c.453 p.I151 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 599 0 0.00 287 242 45.75 - - - HS3ST5 0 genome.wustl.edu 37 6 114379009 114379009 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 114379009 114379009 G A SNP HS3ST5 ENST00000312719 human ensembl 69_37n -1 known silent c.453 p.I151 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC ENSG00000249853 415 0 0.00 287 242 45.75 - - - IFIT2 0 genome.wustl.edu 37 10 91066299 91066299 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 91066299 91066299 G A SNP IFIT2 ENST00000371826 human ensembl 69_37n +1 known missense c.586 p.D196N 0.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 205 1 0.48 194 86 30.60 - - - IFIT2 0 genome.wustl.edu 37 10 91066299 91066299 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 91066299 91066299 G A SNP IFIT2 ENST00000371826 human ensembl 69_37n +1 known missense c.586 p.D196N 0.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 195 0 0.00 194 86 30.60 - - - IFNA1 0 genome.wustl.edu 37 9 21441024 21441024 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 21441024 21441024 G A SNP IFNA1 ENST00000276927 human ensembl 69_37n +1 known missense c.518 p.R173K 0.008 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA1 HGNC ENSG00000197919 492 0 0.00 395 151 27.66 - - - IFNA1 0 genome.wustl.edu 37 9 21441024 21441024 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 21441024 21441024 G A SNP IFNA1 ENST00000276927 human ensembl 69_37n +1 known missense c.518 p.R173K 0.008 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA1 HGNC ENSG00000197919 507 0 0.00 395 151 27.66 - - - IL13RA1 0 genome.wustl.edu 37 X 117895249 117895249 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 117895249 117895249 C G SNP IL13RA1 ENST00000371666 human ensembl 69_37n +1 known missense c.825 p.F275L 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 279 0 0.00 257 103 28.61 - - - IL13RA1 0 genome.wustl.edu 37 X 117895249 117895249 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 117895249 117895249 C G SNP IL13RA1 ENST00000371666 human ensembl 69_37n +1 known missense c.825 p.F275L 0.000 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 291 0 0.00 257 103 28.61 - - - ILDR1 0 genome.wustl.edu 37 3 121720279 121720279 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 121720279 121720279 G A SNP ILDR1 ENST00000344209 human ensembl 69_37n -1 known silent c.522 p.I174 0.999 pfam_LISCH7 pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 146 0 0.00 50 27 35.06 - - - ILDR1 0 genome.wustl.edu 37 3 121720279 121720279 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 121720279 121720279 G A SNP ILDR1 ENST00000344209 human ensembl 69_37n -1 known silent c.522 p.I174 0.999 pfam_LISCH7 pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 50 0 0.00 50 27 35.06 - - - INPP5B 0 genome.wustl.edu 37 1 38345821 38345821 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 38345821 38345821 C G SNP INPP5B ENST00000373023 human ensembl 69_37n -1 known missense c.1717 p.E573Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 128 0 0.00 65 52 44.44 - - - INPP5B 0 genome.wustl.edu 37 1 38345821 38345821 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 38345821 38345821 C G SNP INPP5B ENST00000373023 human ensembl 69_37n -1 known missense c.1717 p.E573Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 145 0 0.00 65 52 44.44 - - - IRF2BP1 0 genome.wustl.edu 37 19 46388255 46388255 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 46388255 46388255 C T SNP IRF2BP1 ENST00000302165 human ensembl 69_37n -1 known missense c.778 p.D260N 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 14 0 0.00 11 5 31.25 - - - IRF2BP1 0 genome.wustl.edu 37 19 46388255 46388255 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 46388255 46388255 C T SNP IRF2BP1 ENST00000302165 human ensembl 69_37n -1 known missense c.778 p.D260N 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 28 0 0.00 11 5 31.25 - - - ITGB6 0 genome.wustl.edu 37 2 160994606 160994606 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 160994606 160994606 C G SNP ITGB6 ENST00000283249 human ensembl 69_37n -1 known missense c.1212 p.K404N 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 231 0 0.00 144 74 33.94 - - - ITGB6 0 genome.wustl.edu 37 2 160994606 160994606 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 160994606 160994606 C G SNP ITGB6 ENST00000283249 human ensembl 69_37n -1 known missense c.1212 p.K404N 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 202 0 0.00 144 74 33.94 - - - JUP 0 genome.wustl.edu 37 17 39919553 39919553 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 39919553 39919553 C T SNP JUP ENST00000310706 human ensembl 69_37n -1 known silent c.1179 p.L393 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors JUP HGNC ENSG00000173801 145 0 0.00 133 21 13.64 - - - JUP 0 genome.wustl.edu 37 17 39919553 39919553 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 39919553 39919553 C T SNP JUP ENST00000310706 human ensembl 69_37n -1 known silent c.1179 p.L393 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo - no_errors JUP HGNC ENSG00000173801 31 0 0.00 133 21 13.64 - - - KCNJ2 0 genome.wustl.edu 37 17 68171693 68171693 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 68171693 68171693 C G SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.513 p.I171M 0.060 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 269 0 0.00 85 38 30.65 - - - KCNJ2 0 genome.wustl.edu 37 17 68171693 68171693 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 68171693 68171693 C G SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.513 p.I171M 0.060 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 164 0 0.00 85 38 30.65 - - - KIAA0319 0 genome.wustl.edu 37 6 24596268 24596268 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 24596268 24596268 C G SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.634 p.D212H 0.169 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 194 0 0.00 96 45 31.91 - - - KIAA0319 0 genome.wustl.edu 37 6 24596268 24596268 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 24596268 24596268 C G SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.634 p.D212H 0.169 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 98 0 0.00 96 45 31.91 - - - KIAA0408 0 genome.wustl.edu 37 6 127771455 127771455 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 127771455 127771455 C T SNP KIAA0408 ENST00000483725 human ensembl 69_37n -1 novel missense c.178 p.E60K 0.204 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 125 0 0.00 138 59 29.95 - - - KIAA0408 0 genome.wustl.edu 37 6 127771455 127771455 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 127771455 127771455 C T SNP KIAA0408 ENST00000483725 human ensembl 69_37n -1 novel missense c.178 p.E60K 0.204 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 134 0 0.00 138 59 29.95 - - - KIAA0753 0 genome.wustl.edu 37 17 6515265 6515265 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 6515265 6515265 C G SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known missense c.1519 p.D507H 0.958 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 377 1 0.26 179 137 43.35 - - - KIAA0753 0 genome.wustl.edu 37 17 6515265 6515265 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 6515265 6515265 C G SNP KIAA0753 ENST00000361413 human ensembl 69_37n -1 known missense c.1519 p.D507H 0.958 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 265 0 0.00 179 137 43.35 - - - KIAA1109 0 genome.wustl.edu 37 4 123239318 123239318 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 123239318 123239318 G C SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.10687 p.E3563Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 154 0 0.00 184 96 34.29 - - - KIAA1109 0 genome.wustl.edu 37 4 123239318 123239318 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 123239318 123239318 G C SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.10687 p.E3563Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 254 0 0.00 184 96 34.29 - - - KIAA2022 0 genome.wustl.edu 37 X 73960911 73960911 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 73960911 73960911 C T SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.3481 p.D1161N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 222 0 0.00 281 160 36.20 - - - KIAA2022 0 genome.wustl.edu 37 X 73960911 73960911 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 73960911 73960911 C T SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known missense c.3481 p.D1161N 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 441 0 0.00 281 160 36.20 - - - KIF11 0 genome.wustl.edu 37 10 94366119 94366119 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 94366119 94366119 G A SNP KIF11 ENST00000260731 human ensembl 69_37n +1 known missense c.175 p.D59N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 69 0 0.00 73 34 31.78 - - - KIF11 0 genome.wustl.edu 37 10 94366119 94366119 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 94366119 94366119 G A SNP KIF11 ENST00000260731 human ensembl 69_37n +1 known missense c.175 p.D59N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 66 0 0.00 73 34 31.78 - - - KIF13A 0 genome.wustl.edu 37 6 17797021 17797021 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 17797021 17797021 G A SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known silent c.2821 p.L941 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 214 0 0.00 144 65 30.95 - - - KIF13A 0 genome.wustl.edu 37 6 17797021 17797021 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 17797021 17797021 G A SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known silent c.2821 p.L941 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 124 0 0.00 144 65 30.95 - - - KIF14 0 genome.wustl.edu 37 1 200586951 200586951 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 200586951 200586951 G C SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known missense c.901 p.P301A 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 268 0 0.00 201 74 26.91 - - - KIF14 0 genome.wustl.edu 37 1 200586951 200586951 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 200586951 200586951 G C SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known missense c.901 p.P301A 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 179 0 0.00 201 74 26.91 - - - KIF5C 0 genome.wustl.edu 37 2 149806935 149806935 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 149806935 149806935 C T SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known silent c.927 p.F309 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 87 0 0.00 57 32 35.96 - - - KIF5C 0 genome.wustl.edu 37 2 149806935 149806935 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 149806935 149806935 C T SNP KIF5C ENST00000435030 human ensembl 69_37n +1 known silent c.927 p.F309 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 37 0 0.00 57 32 35.96 - - - KLHL34 0 genome.wustl.edu 37 X 21675045 21675046 + Frame_Shift_Ins INS - - C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 21675045 21675046 - C INS KLHL34 ENST00000379499 human ensembl 69_37n -1 known frame_shift_ins c.862_861 p.R287fs 0.005:0.005 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 9 0 0.00 4 2 33.33 - - - KLHL4 0 genome.wustl.edu 37 X 86869457 86869457 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 86869457 86869457 C A SNP KLHL4 ENST00000373114 human ensembl 69_37n +1 known missense c.611 p.S204Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 95 0 0.00 79 38 32.48 - - - KLHL4 0 genome.wustl.edu 37 X 86869457 86869457 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 86869457 86869457 C A SNP KLHL4 ENST00000373114 human ensembl 69_37n +1 known missense c.611 p.S204Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 68 0 0.00 79 38 32.48 - - - KLK9 0 genome.wustl.edu 37 19 51509731 51509732 + Frame_Shift_Ins INS - - C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 51509731 51509732 - C INS KLK9 ENST00000250366 human ensembl 69_37n -1 known frame_shift_ins c.449_448 p.A150fs 0.982:0.966 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK9 HGNC ENSG00000213022 21 0 0.00 45 8 15.09 - - - KRT9 0 genome.wustl.edu 37 17 39723875 39723875 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 39723875 39723875 C T SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known missense c.1522 p.G508R 0.886 NULL pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 73 0 0.00 60 115 65.71 - - - KRT9 0 genome.wustl.edu 37 17 39724602 39724602 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 39724602 39724602 C T SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known silent c.1206 p.K402 0.736 pfam_F pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 144 0 0.00 106 250 70.22 - - - KRT9 0 genome.wustl.edu 37 17 39724823 39724823 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 39724823 39724823 C T SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known silent c.1107 p.E369 0.871 pfam_F pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 259 0 0.00 168 487 74.35 - - - LDHAL6CP 0 genome.wustl.edu 37 12 63398036 63398036 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 63398036 63398036 G A SNP LDHAL6CP ENST00000550738 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 131 0 0.00 108 50 31.65 - - - LDHAL6CP 0 genome.wustl.edu 37 12 63398036 63398036 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 63398036 63398036 G A SNP LDHAL6CP ENST00000550738 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 247 0 0.00 108 50 31.65 - - - LINC00471 0 genome.wustl.edu 37 2 232378274 232378274 + RNA SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 232378274 232378274 C G SNP LINC00471 ENST00000313064 human ensembl 69_37n -1 known rna NULL NULL 0.326 - - - no_errors LINC00471 HGNC ENSG00000181798 138 0 0.00 104 34 24.64 - - - LINC00471 0 genome.wustl.edu 37 2 232378274 232378274 + RNA SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 232378274 232378274 C G SNP LINC00471 ENST00000313064 human ensembl 69_37n -1 known rna NULL NULL 0.326 - - - no_errors LINC00471 HGNC ENSG00000181798 126 0 0.00 104 34 24.64 - - - LRG1 0 genome.wustl.edu 37 19 4538658 4538658 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 4538658 4538658 C T SNP LRG1 ENST00000306390 human ensembl 69_37n -1 known missense c.338 p.R113Q 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 29 0 0.00 15 14 48.28 - - - LRG1 0 genome.wustl.edu 37 19 4538658 4538658 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 4538658 4538658 C T SNP LRG1 ENST00000306390 human ensembl 69_37n -1 known missense c.338 p.R113Q 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 38 0 0.00 15 14 48.28 - - - LRRC41 0 genome.wustl.edu 37 1 46763977 46763977 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 46763977 46763977 C T SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.265 p.E89K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 176 0 0.00 85 18 17.48 - - - LRRC41 0 genome.wustl.edu 37 1 46763977 46763977 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 46763977 46763977 C T SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.265 p.E89K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 109 0 0.00 85 18 17.48 - - - LUZP4 0 genome.wustl.edu 37 X 114524374 114524374 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 114524374 114524374 C T SNP LUZP4 ENST00000371920 human ensembl 69_37n +1 known missense c.49 p.H17Y 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 123 0 0.00 52 21 28.77 - - - LUZP4 0 genome.wustl.edu 37 X 114524374 114524374 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 114524374 114524374 C T SNP LUZP4 ENST00000371920 human ensembl 69_37n +1 known missense c.49 p.H17Y 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 53 0 0.00 52 21 28.77 - - - MAGEC1 0 genome.wustl.edu 37 X 140995393 140995393 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 140995393 140995393 G A SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.2203 p.D735N 0.013 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 363 1 0.27 434 162 27.09 - - - MAGEC1 0 genome.wustl.edu 37 X 140995393 140995393 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 140995393 140995393 G A SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.2203 p.D735N 0.013 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 660 0 0.00 434 162 27.09 - - - MAGEE2 0 genome.wustl.edu 37 X 75004401 75004401 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 75004401 75004401 G C SNP MAGEE2 ENST00000373359 human ensembl 69_37n -1 known missense c.486 p.F162L 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 137 0 0.00 99 37 27.01 - - - MAGEE2 0 genome.wustl.edu 37 X 75004401 75004401 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 75004401 75004401 G C SNP MAGEE2 ENST00000373359 human ensembl 69_37n -1 known missense c.486 p.F162L 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 73 0 0.00 99 37 27.01 - - - MAP3K1 0 genome.wustl.edu 37 5 56171088 56171088 + Missense_Mutation SNP T T C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 5 56171088 56171088 T C SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.1916 p.L639P 0.991 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 156 0 0.00 145 41 22.04 - - - MAP3K1 0 genome.wustl.edu 37 5 56171088 56171088 + Missense_Mutation SNP T T C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 5 56171088 56171088 T C SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.1916 p.L639P 0.991 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 142 0 0.00 145 41 22.04 - - - MAP3K13 0 genome.wustl.edu 37 3 185165697 185165697 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 185165697 185165697 G C SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known silent c.972 p.V324 1.000 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 76 0 0.00 42 16 27.59 - - - MAP3K13 0 genome.wustl.edu 37 3 185165697 185165697 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 185165697 185165697 G C SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known silent c.972 p.V324 1.000 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 66 0 0.00 42 16 27.59 - - - MAP3K5 0 genome.wustl.edu 37 6 136990511 136990511 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 136990511 136990511 C T SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known missense c.1276 p.E426K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 144 0 0.00 144 59 28.92 - - - MAP3K5 0 genome.wustl.edu 37 6 136990511 136990511 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 136990511 136990511 C T SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known missense c.1276 p.E426K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 129 1 0.77 144 59 28.92 - - - MAP3K7 0 genome.wustl.edu 37 6 91260217 91260217 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 91260217 91260217 C T SNP MAP3K7 ENST00000369329 human ensembl 69_37n -1 known missense c.919 p.E307K 1.000 pirsf_MAPKKK7,superfamily_Kinase-like_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K7 HGNC ENSG00000135341 76 0 0.00 126 46 26.74 - - - MAP3K7 0 genome.wustl.edu 37 6 91260217 91260217 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 91260217 91260217 C T SNP MAP3K7 ENST00000369329 human ensembl 69_37n -1 known missense c.919 p.E307K 1.000 pirsf_MAPKKK7,superfamily_Kinase-like_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K7 HGNC ENSG00000135341 98 0 0.00 126 46 26.74 - - - MARCH10 0 genome.wustl.edu 37 17 60802440 60802440 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 60802440 60802440 C T SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known missense c.1963 p.E655K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 151 0 0.00 233 40 14.60 - - - MARCH10 0 genome.wustl.edu 37 17 60802440 60802440 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 60802440 60802440 C T SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known missense c.1963 p.E655K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 58 0 0.00 233 40 14.60 - - - MARCH10 0 genome.wustl.edu 37 17 60821843 60821843 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 60821843 60821843 C G SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known silent c.429 p.L143 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 155 0 0.00 276 103 27.11 - - - MARCH10 0 genome.wustl.edu 37 17 60821843 60821843 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 60821843 60821843 C G SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known silent c.429 p.L143 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 133 0 0.00 276 103 27.11 - - - MAS1L 0 genome.wustl.edu 37 6 29455047 29455047 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 29455047 29455047 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known silent c.633 p.F211 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 179 0 0.00 95 50 34.48 - - - MAS1L 0 genome.wustl.edu 37 6 29455047 29455047 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 29455047 29455047 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known silent c.633 p.F211 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 106 0 0.00 95 50 34.48 - - - MAS1L 0 genome.wustl.edu 37 6 29455193 29455193 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 29455193 29455193 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known missense c.487 p.L163F 0.017 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 181 0 0.00 68 35 33.98 - - - MAS1L 0 genome.wustl.edu 37 6 29455193 29455193 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 29455193 29455193 G A SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known missense c.487 p.L163F 0.017 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 72 0 0.00 68 35 33.98 - - - MAZ 0 genome.wustl.edu 37 16 29819563 29819563 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 29819563 29819563 C G SNP MAZ ENST00000561855 human ensembl 69_37n +1 known missense c.205 p.Q69E 1.000 NULL NULL - no_errors MAZ HGNC ENSG00000103495 23 0 0.00 4 5 55.56 - - - MAZ 0 genome.wustl.edu 37 16 29819563 29819563 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 29819563 29819563 C G SNP MAZ ENST00000561855 human ensembl 69_37n +1 known missense c.205 p.Q69E 1.000 NULL NULL - no_errors MAZ HGNC ENSG00000103495 25 0 0.00 4 5 55.56 - - - MED13 0 genome.wustl.edu 37 17 60023893 60023893 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 60023893 60023893 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.6461 p.S2154L 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 106 0 0.00 89 78 46.71 - - - MED13 0 genome.wustl.edu 37 17 60023893 60023893 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 60023893 60023893 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.6461 p.S2154L 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 75 0 0.00 89 78 46.71 - - - MED14 0 genome.wustl.edu 37 X 40569291 40569291 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 40569291 40569291 C T SNP MED14 ENST00000324817 human ensembl 69_37n -1 known silent c.1113 p.Q371 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 67 0 0.00 74 24 24.49 - - - MED14 0 genome.wustl.edu 37 X 40569291 40569291 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 40569291 40569291 C T SNP MED14 ENST00000324817 human ensembl 69_37n -1 known silent c.1113 p.Q371 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 66 0 0.00 74 24 24.49 - - - MEP1A 0 genome.wustl.edu 37 6 46806828 46806828 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 46806828 46806828 G C SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known missense c.2196 p.L732F 0.979 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 63 0 0.00 35 22 38.60 - - - MEP1A 0 genome.wustl.edu 37 6 46806828 46806828 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 46806828 46806828 G C SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known missense c.2196 p.L732F 0.979 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 37 0 0.00 35 22 38.60 - - - MIR516A2 0 genome.wustl.edu 37 19 54264407 54264407 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 54264407 54264407 G A SNP MIR516A2 ENST00000384888 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors MIR516A2 HGNC ENSG00000207620 460 1 0.22 226 71 23.91 - - - MIR516A2 0 genome.wustl.edu 37 19 54264407 54264407 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 54264407 54264407 G A SNP MIR516A2 ENST00000384888 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors MIR516A2 HGNC ENSG00000207620 182 0 0.00 226 71 23.91 - - - MLH3 0 genome.wustl.edu 37 14 75515335 75515335 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 75515335 75515335 C T SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.1024 p.E342K 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 166 0 0.00 127 57 30.98 - - - MLH3 0 genome.wustl.edu 37 14 75515335 75515335 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 75515335 75515335 C T SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.1024 p.E342K 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 157 0 0.00 127 57 30.98 - - - MLIP 0 genome.wustl.edu 37 6 54066989 54066989 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 54066989 54066989 C T SNP MLIP ENST00000274897 human ensembl 69_37n +1 known silent c.1071 p.F357 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 91 0 0.00 158 65 29.15 - - - MLIP 0 genome.wustl.edu 37 6 54066989 54066989 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 54066989 54066989 C T SNP MLIP ENST00000274897 human ensembl 69_37n +1 known silent c.1071 p.F357 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 193 0 0.00 158 65 29.15 - - - MLLT4 0 genome.wustl.edu 37 6 168352759 168352759 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 168352759 168352759 G C SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.4704 p.K1568N 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 39 0 0.00 68 21 23.60 - - - MLLT4 0 genome.wustl.edu 37 6 168352759 168352759 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 168352759 168352759 G C SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.4704 p.K1568N 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 109 0 0.00 68 21 23.60 - - - MSL3 0 genome.wustl.edu 37 X 11779010 11779010 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 11779010 11779010 C G SNP MSL3 ENST00000487782 human ensembl 69_37n +1 known missense c.79 p.L27V 0.996 NULL pfam_MRG - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MSL3 HGNC ENSG00000005302 11 0 0.00 15 4 21.05 - - - MSL3 0 genome.wustl.edu 37 X 11779010 11779010 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 11779010 11779010 C G SNP MSL3 ENST00000487782 human ensembl 69_37n +1 known missense c.79 p.L27V 0.996 NULL pfam_MRG - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MSL3 HGNC ENSG00000005302 27 0 0.00 15 4 21.05 - - - MTMR8 0 genome.wustl.edu 37 X 63548723 63548723 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 63548723 63548723 G A SNP MTMR8 ENST00000442913 human ensembl 69_37n -1 known nonsense c.820 p.Q274* 0.998 NULL smart_Tyr_Pase_cat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTMR8 HGNC ENSG00000102043 146 0 0.00 182 76 29.46 - - - MTMR8 0 genome.wustl.edu 37 X 63548723 63548723 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 63548723 63548723 G A SNP MTMR8 ENST00000442913 human ensembl 69_37n -1 known nonsense c.820 p.Q274* 0.998 NULL smart_Tyr_Pase_cat - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTMR8 HGNC ENSG00000102043 125 0 0.00 182 76 29.46 - - - MTOR 0 genome.wustl.edu 37 1 11317097 11317097 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 11317097 11317097 G C SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.397 p.L133V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 62 0 0.00 8 10 55.56 - - - MTOR 0 genome.wustl.edu 37 1 11317097 11317097 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 11317097 11317097 G C SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.397 p.L133V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 32 0 0.00 8 10 55.56 - - - MYCBP2 0 genome.wustl.edu 37 13 77692650 77692650 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 77692650 77692650 C G SNP MYCBP2 ENST00000360084 human ensembl 69_37n -1 known missense c.420 p.L140F 1.000 NULL NULL - no_stop_codon MYCBP2 HGNC ENSG00000005810 28 0 0.00 28 12 30.00 - - - MYCBP2 0 genome.wustl.edu 37 13 77692650 77692650 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 77692650 77692650 C G SNP MYCBP2 ENST00000360084 human ensembl 69_37n -1 known missense c.420 p.L140F 1.000 NULL NULL - no_stop_codon MYCBP2 HGNC ENSG00000005810 50 0 0.00 28 12 30.00 - - - MYEF2 0 genome.wustl.edu 37 15 48443305 48443305 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 48443305 48443305 G C SNP MYEF2 ENST00000324324 human ensembl 69_37n -1 known missense c.1370 p.S457C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 157 0 0.00 196 93 32.07 - - - MYEF2 0 genome.wustl.edu 37 15 48443305 48443305 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 48443305 48443305 G C SNP MYEF2 ENST00000324324 human ensembl 69_37n -1 known missense c.1370 p.S457C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 215 0 0.00 196 93 32.07 - - - MYH15 0 genome.wustl.edu 37 3 108107918 108107918 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 108107918 108107918 G A SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.5494 p.R1832C 0.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 167 0 0.00 84 41 32.80 - - - MYH15 0 genome.wustl.edu 37 3 108107918 108107918 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 108107918 108107918 G A SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.5494 p.R1832C 0.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 83 0 0.00 84 41 32.80 - - - NALCN 0 genome.wustl.edu 37 13 101910796 101910796 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 101910796 101910796 C T SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.1264 p.E422K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 78 0 0.00 47 29 38.16 - - - NALCN 0 genome.wustl.edu 37 13 101910796 101910796 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 101910796 101910796 C T SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.1264 p.E422K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 41 0 0.00 47 29 38.16 - - - NAV1 0 genome.wustl.edu 37 1 201751591 201751591 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 201751591 201751591 G A SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.1951 p.V651I 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 235 0 0.00 266 129 32.66 - - - NAV1 0 genome.wustl.edu 37 1 201751591 201751591 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 201751591 201751591 G A SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.1951 p.V651I 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 354 0 0.00 266 129 32.66 - - - NAV3 0 genome.wustl.edu 37 12 78598796 78598796 + Nonsense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 78598796 78598796 C T SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known nonsense c.6916 p.Q2306* 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 100 0 0.00 70 30 30.00 - - - NAV3 0 genome.wustl.edu 37 12 78598796 78598796 + Nonsense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 78598796 78598796 C T SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known nonsense c.6916 p.Q2306* 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 50 0 0.00 70 30 30.00 - - - NFATC3 0 genome.wustl.edu 37 16 68224697 68224697 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 68224697 68224697 G C SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.2125 p.E709Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 648 0 0.00 103 90 46.63 - - - NFATC3 0 genome.wustl.edu 37 16 68224697 68224697 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 68224697 68224697 G C SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.2125 p.E709Q 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 159 0 0.00 103 90 46.63 - - - NFATC3 0 genome.wustl.edu 37 16 68224886 68224886 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 68224886 68224886 G A SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.2314 p.E772K 0.974 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 887 3 0.34 146 99 40.41 - - - NFATC3 0 genome.wustl.edu 37 16 68224886 68224886 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 68224886 68224886 G A SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.2314 p.E772K 0.974 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 232 0 0.00 146 99 40.41 - - - NFYB 0 genome.wustl.edu 37 12 104517031 104517031 + Silent SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 104517031 104517031 C A SNP NFYB ENST00000240055 human ensembl 69_37n -1 known silent c.402 p.L134 1.000 superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors NFYB HGNC ENSG00000120837 139 0 0.00 72 38 34.55 - - - NFYB 0 genome.wustl.edu 37 12 104517031 104517031 + Silent SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 104517031 104517031 C A SNP NFYB ENST00000240055 human ensembl 69_37n -1 known silent c.402 p.L134 1.000 superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors NFYB HGNC ENSG00000120837 97 0 0.00 72 38 34.55 - - - NFYC 0 genome.wustl.edu 37 1 41213269 41213269 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 41213269 41213269 G A SNP NFYC ENST00000308733 human ensembl 69_37n +1 known missense c.169 p.D57N 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 127 0 0.00 44 28 38.89 - - - NFYC 0 genome.wustl.edu 37 1 41213269 41213269 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 41213269 41213269 G A SNP NFYC ENST00000308733 human ensembl 69_37n +1 known missense c.169 p.D57N 1.000 pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 48 0 0.00 44 28 38.89 - - - NOTCH2 0 genome.wustl.edu 37 1 120484367 120484367 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 120484367 120484367 C T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known silent c.2763 p.Q921 1.000 pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 93 0 0.00 72 28 28.00 - - - NOTCH2 0 genome.wustl.edu 37 1 120484367 120484367 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 120484367 120484367 C T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known silent c.2763 p.Q921 1.000 pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 89 0 0.00 72 28 28.00 - - - NR1H4 0 genome.wustl.edu 37 12 100928777 100928777 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 100928777 100928777 G C SNP NR1H4 ENST00000551379 human ensembl 69_37n +1 known silent c.738 p.V246 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 114 0 0.00 62 20 24.39 - - - NR1H4 0 genome.wustl.edu 37 12 100928777 100928777 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 100928777 100928777 G C SNP NR1H4 ENST00000551379 human ensembl 69_37n +1 known silent c.738 p.V246 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 61 0 0.00 62 20 24.39 - - - NTRK3 0 genome.wustl.edu 37 15 88472506 88472506 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 88472506 88472506 C G SNP NTRK3 ENST00000360948 human ensembl 69_37n -1 known missense c.2049 p.R683S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 267 0 0.00 75 34 31.19 - - - NTRK3 0 genome.wustl.edu 37 15 88472506 88472506 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 88472506 88472506 C G SNP NTRK3 ENST00000360948 human ensembl 69_37n -1 known missense c.2049 p.R683S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 76 0 0.00 75 34 31.19 - - - NUDT13 0 genome.wustl.edu 37 10 74874153 74874153 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 74874153 74874153 G C SNP NUDT13 ENST00000357321 human ensembl 69_37n +1 known missense c.30 p.R10S 0.823 NULL pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 44 0 0.00 42 17 28.81 - - - NUDT13 0 genome.wustl.edu 37 10 74874153 74874153 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 74874153 74874153 G C SNP NUDT13 ENST00000357321 human ensembl 69_37n +1 known missense c.30 p.R10S 0.823 NULL pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 30 0 0.00 42 17 28.81 - - - NUP153 0 genome.wustl.edu 37 6 17637546 17637546 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 17637546 17637546 C G SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.2395 p.E799Q 0.002 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 395 0 0.00 420 63 13.04 - - - NUP153 0 genome.wustl.edu 37 6 17637546 17637546 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 17637546 17637546 C G SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.2395 p.E799Q 0.002 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 360 0 0.00 420 63 13.04 - - - OLFML2B 0 genome.wustl.edu 37 1 161970068 161970068 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 161970068 161970068 G A SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known silent c.784 p.L262 0.981 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 186 0 0.00 122 49 28.65 - - - OLFML2B 0 genome.wustl.edu 37 1 161970068 161970068 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 161970068 161970068 G A SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known silent c.784 p.L262 0.981 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 68 0 0.00 122 49 28.65 - - - OR14I1 0 genome.wustl.edu 37 1 248845114 248845114 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 248845114 248845114 C T SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known silent c.492 p.E164 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 118 0 0.00 78 30 27.78 - - - OR14I1 0 genome.wustl.edu 37 1 248845114 248845114 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 248845114 248845114 C T SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known silent c.492 p.E164 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 110 0 0.00 78 30 27.78 - - - OR56A1 0 genome.wustl.edu 37 11 6048366 6048366 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 6048366 6048366 G C SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known missense c.569 p.S190C 0.128 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 378 0 0.00 187 147 44.01 - - - OR56A1 0 genome.wustl.edu 37 11 6048366 6048366 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 6048366 6048366 G C SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known missense c.569 p.S190C 0.128 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 253 0 0.00 187 147 44.01 - - - OR8D1 0 genome.wustl.edu 37 11 124180243 124180243 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 124180243 124180243 G C SNP OR8D1 ENST00000357821 human ensembl 69_37n -1 known silent c.420 p.V140 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 201 0 0.00 106 56 34.57 - - - OR8D1 0 genome.wustl.edu 37 11 124180243 124180243 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 124180243 124180243 G C SNP OR8D1 ENST00000357821 human ensembl 69_37n -1 known silent c.420 p.V140 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 141 0 0.00 106 56 34.57 - - - OXGR1 0 genome.wustl.edu 37 13 97639086 97639086 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 97639086 97639086 G A SNP OXGR1 ENST00000298440 human ensembl 69_37n -1 known nonsense c.928 p.Q310* 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC ENSG00000165621 225 1 0.44 176 78 30.71 - - - OXGR1 0 genome.wustl.edu 37 13 97639086 97639086 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 97639086 97639086 G A SNP OXGR1 ENST00000298440 human ensembl 69_37n -1 known nonsense c.928 p.Q310* 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC ENSG00000165621 262 0 0.00 176 78 30.71 - - - PAICS 0 genome.wustl.edu 37 4 57314891 57314891 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 57314891 57314891 G C SNP PAICS ENST00000264221 human ensembl 69_37n +1 known missense c.589 p.D197H 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 62 0 0.00 43 15 25.42 - - - PAICS 0 genome.wustl.edu 37 4 57314891 57314891 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 57314891 57314891 G C SNP PAICS ENST00000264221 human ensembl 69_37n +1 known missense c.589 p.D197H 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC ENSG00000128050 35 0 0.00 43 15 25.42 - - - PCSK5 0 genome.wustl.edu 37 9 78804645 78804645 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 78804645 78804645 G C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.2609 p.G870A 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 146 0 0.00 87 30 25.64 - - - PCSK5 0 genome.wustl.edu 37 9 78804645 78804645 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 78804645 78804645 G C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.2609 p.G870A 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 84 0 0.00 87 30 25.64 - - - PCYT1B 0 genome.wustl.edu 37 X 24580566 24580566 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 24580566 24580566 C G SNP PCYT1B ENST00000379144 human ensembl 69_37n -1 known missense c.954 p.Q318H 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT1B HGNC ENSG00000102230 61 0 0.00 14 8 36.36 - - - PCYT1B 0 genome.wustl.edu 37 X 24580566 24580566 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 24580566 24580566 C G SNP PCYT1B ENST00000379144 human ensembl 69_37n -1 known missense c.954 p.Q318H 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT1B HGNC ENSG00000102230 26 0 0.00 14 8 36.36 - - - PDE9A 0 genome.wustl.edu 37 21 44153465 44153465 + Splice_Site SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 21 44153465 44153465 G A SNP PDE9A ENST00000291539 human ensembl 69_37n +1 known splice_site c.498-1 e7-1 1.000 - - - no_errors PDE9A HGNC ENSG00000160191 98 0 0.00 56 27 32.53 - - - PDE9A 0 genome.wustl.edu 37 21 44153465 44153465 + Splice_Site SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 21 44153465 44153465 G A SNP PDE9A ENST00000291539 human ensembl 69_37n +1 known splice_site c.498-1 e7-1 1.000 - - - no_errors PDE9A HGNC ENSG00000160191 35 0 0.00 56 27 32.53 - - - PDRG1 0 genome.wustl.edu 37 20 30534327 30534327 + Silent SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 30534327 30534327 C A SNP PDRG1 ENST00000202017 human ensembl 69_37n -1 known silent c.291 p.V97 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 308 0 0.00 81 26 24.30 - - - PDRG1 0 genome.wustl.edu 37 20 30534327 30534327 + Silent SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 30534327 30534327 C A SNP PDRG1 ENST00000202017 human ensembl 69_37n -1 known silent c.291 p.V97 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 94 0 0.00 81 26 24.30 - - - PDS5B 0 genome.wustl.edu 37 13 33252979 33252979 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 33252979 33252979 G A SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.970 p.D324N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 133 0 0.00 159 73 31.47 - - - PDS5B 0 genome.wustl.edu 37 13 33252979 33252979 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 33252979 33252979 G A SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.970 p.D324N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 112 0 0.00 159 73 31.47 - - - PER1 0 genome.wustl.edu 37 17 8051337 8051337 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 8051337 8051337 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known silent c.1212 p.L404 0.996 pfam_PAS_fold_3,smart_PAS,pfscan_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 38 0 0.00 6 9 60.00 - - - PER1 0 genome.wustl.edu 37 17 8051337 8051337 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 8051337 8051337 G A SNP PER1 ENST00000317276 human ensembl 69_37n -1 known silent c.1212 p.L404 0.996 pfam_PAS_fold_3,smart_PAS,pfscan_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 37 0 0.00 6 9 60.00 - - - PFKM 0 genome.wustl.edu 37 12 48539433 48539433 + Nonsense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 12 48539433 48539433 C A SNP PFKM ENST00000312352 human ensembl 69_37n +1 known nonsense c.2285 p.S762* 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 141 1 0.70 86 15 14.85 - - - PFKM 0 genome.wustl.edu 37 12 48539433 48539433 + Nonsense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 12 48539433 48539433 C A SNP PFKM ENST00000312352 human ensembl 69_37n +1 known nonsense c.2285 p.S762* 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 94 0 0.00 86 15 14.85 - - - PHYHIP 0 genome.wustl.edu 37 8 22084524 22084524 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 22084524 22084524 C A SNP PHYHIP ENST00000454243 human ensembl 69_37n -1 known missense c.180 p.K60N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 100 0 0.00 30 8 21.05 - - - PHYHIP 0 genome.wustl.edu 37 8 22084524 22084524 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 22084524 22084524 C A SNP PHYHIP ENST00000454243 human ensembl 69_37n -1 known missense c.180 p.K60N 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 18 0 0.00 30 8 21.05 - - - PJA1 0 genome.wustl.edu 37 X 68382802 68382802 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 68382802 68382802 C T SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.280 p.E94K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 133 0 0.00 47 24 33.80 - - - PJA1 0 genome.wustl.edu 37 X 68382802 68382802 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 68382802 68382802 C T SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known missense c.280 p.E94K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 94 0 0.00 47 24 33.80 - - - PKHD1 0 genome.wustl.edu 37 6 51503731 51503731 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 51503731 51503731 C G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.11422 p.D3808H 0.995 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 418 0 0.00 472 224 32.18 - - - PKHD1 0 genome.wustl.edu 37 6 51503731 51503731 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 51503731 51503731 C G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.11422 p.D3808H 0.995 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 344 0 0.00 472 224 32.18 - - - PKHD1 0 genome.wustl.edu 37 6 51890550 51890550 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 51890550 51890550 G C SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.4058 p.S1353C 0.726 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 216 0 0.00 148 71 32.42 - - - PKHD1 0 genome.wustl.edu 37 6 51890550 51890550 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 51890550 51890550 G C SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.4058 p.S1353C 0.726 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 188 0 0.00 148 71 32.42 - - - PKP1 0 genome.wustl.edu 37 1 201292174 201292174 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 201292174 201292174 G C SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known missense c.1600 p.E534Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 89 0 0.00 51 29 36.25 - - - PKP1 0 genome.wustl.edu 37 1 201292174 201292174 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 201292174 201292174 G C SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known missense c.1600 p.E534Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 100 0 0.00 51 29 36.25 - - - PKP4 0 genome.wustl.edu 37 2 159488403 159488403 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 159488403 159488403 G A SNP PKP4 ENST00000389759 human ensembl 69_37n +1 known missense c.1292 p.G431E 0.995 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 117 0 0.00 87 34 28.10 - - - PKP4 0 genome.wustl.edu 37 2 159488403 159488403 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 159488403 159488403 G A SNP PKP4 ENST00000389759 human ensembl 69_37n +1 known missense c.1292 p.G431E 0.995 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 76 0 0.00 87 34 28.10 - - - POLQ 0 genome.wustl.edu 37 3 121238843 121238843 + Missense_Mutation SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 121238843 121238843 G T SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.1343 p.S448Y 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 276 1 0.36 178 92 33.70 - - - POLQ 0 genome.wustl.edu 37 3 121238843 121238843 + Missense_Mutation SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 121238843 121238843 G T SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.1343 p.S448Y 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 149 0 0.00 178 92 33.70 - - - POM121 0 genome.wustl.edu 37 7 72397433 72397433 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 72397433 72397433 G C SNP POM121 ENST00000434423 human ensembl 69_37n +1 known missense c.954 p.E318D 1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 223 0 0.00 81 42 34.15 - - - POM121 0 genome.wustl.edu 37 7 72397433 72397433 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 72397433 72397433 G C SNP POM121 ENST00000434423 human ensembl 69_37n +1 known missense c.954 p.E318D 1.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 260 1 0.38 81 42 34.15 - - - PRRT1 0 genome.wustl.edu 37 6 32117479 32117479 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 32117479 32117479 C T SNP PRRT1 ENST00000211413 human ensembl 69_37n -1 known silent c.579 p.P193 0.563 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT1 HGNC ENSG00000204314 20 0 0.00 9 6 37.50 - - - PRRT1 0 genome.wustl.edu 37 6 32117479 32117479 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 32117479 32117479 C T SNP PRRT1 ENST00000211413 human ensembl 69_37n -1 known silent c.579 p.P193 0.563 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT1 HGNC ENSG00000204314 9 0 0.00 9 6 37.50 - - - PSG9 0 genome.wustl.edu 37 19 43763165 43763165 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 43763165 43763165 G C SNP PSG9 ENST00000270077 human ensembl 69_37n -1 known missense c.832 p.Q278E 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC ENSG00000183668 498 0 0.00 385 157 28.97 - - - PSG9 0 genome.wustl.edu 37 19 43763165 43763165 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 43763165 43763165 G C SNP PSG9 ENST00000270077 human ensembl 69_37n -1 known missense c.832 p.Q278E 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG9 HGNC ENSG00000183668 357 0 0.00 385 157 28.97 - - - PSMB11 0 genome.wustl.edu 37 14 23512055 23512055 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 23512055 23512055 C T SNP PSMB11 ENST00000408907 human ensembl 69_37n +1 known silent c.621 p.C207 0.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 58 0 0.00 20 10 33.33 - - - PSMB11 0 genome.wustl.edu 37 14 23512055 23512055 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 23512055 23512055 C T SNP PSMB11 ENST00000408907 human ensembl 69_37n +1 known silent c.621 p.C207 0.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 24 0 0.00 20 10 33.33 - - - PTGDS 0 genome.wustl.edu 37 9 139873688 139873688 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 139873688 139873688 G A SNP PTGDS ENST00000224167 human ensembl 69_37n +1 known missense c.268 p.E90K 0.977 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 19 0 0.00 4 5 55.56 - - - PTGDS 0 genome.wustl.edu 37 9 139873688 139873688 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 139873688 139873688 G A SNP PTGDS ENST00000224167 human ensembl 69_37n +1 known missense c.268 p.E90K 0.977 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 17 0 0.00 4 5 55.56 - - - PTTG2 0 genome.wustl.edu 37 4 37962331 37962331 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 37962331 37962331 G C SNP PTTG2 ENST00000504686 human ensembl 69_37n +1 known missense c.276 p.K92N 0.015 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC ENSG00000250254 339 0 0.00 290 131 31.12 - - - PTTG2 0 genome.wustl.edu 37 4 37962331 37962331 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 37962331 37962331 G C SNP PTTG2 ENST00000504686 human ensembl 69_37n +1 known missense c.276 p.K92N 0.015 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG2 HGNC ENSG00000250254 294 0 0.00 290 131 31.12 - - - RABGGTA 0 genome.wustl.edu 37 14 24740088 24740088 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 24740088 24740088 C T SNP RABGGTA ENST00000216840 human ensembl 69_37n -1 known silent c.69 p.Q23 1.000 NULL pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 19 0 0.00 13 10 43.48 - - - RABGGTA 0 genome.wustl.edu 37 14 24740088 24740088 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 24740088 24740088 C T SNP RABGGTA ENST00000216840 human ensembl 69_37n -1 known silent c.69 p.Q23 1.000 NULL pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC ENSG00000100949 24 0 0.00 13 10 43.48 - - - RANBP6 0 genome.wustl.edu 37 9 6015088 6015088 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 6015088 6015088 C G SNP RANBP6 ENST00000259569 human ensembl 69_37n -1 known missense c.520 p.E174Q 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 86 0 0.00 47 25 34.72 - - - RANBP6 0 genome.wustl.edu 37 9 6015088 6015088 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 6015088 6015088 C G SNP RANBP6 ENST00000259569 human ensembl 69_37n -1 known missense c.520 p.E174Q 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 74 0 0.00 47 25 34.72 - - - RANGAP1 0 genome.wustl.edu 37 22 41677000 41677000 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 22 41677000 41677000 G C SNP RANGAP1 ENST00000356244 human ensembl 69_37n -1 known missense c.49 p.Q17E 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 109 0 0.00 58 18 23.68 - - - RANGAP1 0 genome.wustl.edu 37 22 41677000 41677000 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 22 41677000 41677000 G C SNP RANGAP1 ENST00000356244 human ensembl 69_37n -1 known missense c.49 p.Q17E 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 37 0 0.00 58 18 23.68 - - - RELN 0 genome.wustl.edu 37 7 103322585 103322585 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 103322585 103322585 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.1267 p.E423K 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 263 0 0.00 166 126 43.15 - - - RELN 0 genome.wustl.edu 37 7 103322585 103322585 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 103322585 103322585 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.1267 p.E423K 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 212 0 0.00 166 126 43.15 - - - REV1 0 genome.wustl.edu 37 2 100065947 100065947 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 100065947 100065947 C T SNP REV1 ENST00000258428 human ensembl 69_37n -1 known silent c.201 p.L67 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 114 0 0.00 108 46 29.87 - - - REV1 0 genome.wustl.edu 37 2 100065947 100065947 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 100065947 100065947 C T SNP REV1 ENST00000258428 human ensembl 69_37n -1 known silent c.201 p.L67 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 100 0 0.00 108 46 29.87 - - - RFC1 0 genome.wustl.edu 37 4 39310356 39310356 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 39310356 39310356 G C SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known silent c.1785 p.L595 1.000 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 507 0 0.00 325 135 29.35 - - - RFC1 0 genome.wustl.edu 37 4 39310356 39310356 + Silent SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 39310356 39310356 G C SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known silent c.1785 p.L595 1.000 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 363 0 0.00 325 135 29.35 - - - RNF113A 0 genome.wustl.edu 37 X 119005192 119005192 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 119005192 119005192 C T SNP RNF113A ENST00000371442 human ensembl 69_37n -1 known missense c.385 p.D129N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 511 0 0.00 246 135 35.43 - - - RNF113A 0 genome.wustl.edu 37 X 119005192 119005192 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 119005192 119005192 C T SNP RNF113A ENST00000371442 human ensembl 69_37n -1 known missense c.385 p.D129N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 224 0 0.00 246 135 35.43 - - - RNF20 0 genome.wustl.edu 37 9 104313984 104313984 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 104313984 104313984 C T SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known missense c.1291 p.H431Y 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 156 0 0.00 138 57 29.23 - - - RNF20 0 genome.wustl.edu 37 9 104313984 104313984 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 104313984 104313984 C T SNP RNF20 ENST00000389120 human ensembl 69_37n +1 known missense c.1291 p.H431Y 1.000 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 121 0 0.00 138 57 29.23 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53639477 53639477 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 53639477 53639477 C G SNP RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known missense c.3751 p.E1251Q 1.000 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 171 0 0.00 45 46 50.55 - - - SCGB2B2 0 genome.wustl.edu 37 19 35085143 35085143 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 35085143 35085143 G A SNP SCGB2B2 ENST00000379204 human ensembl 69_37n -1 known silent c.183 p.L61 0.188 pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC ENSG00000205209 189 0 0.00 118 34 22.37 - - - SCGB2B2 0 genome.wustl.edu 37 19 35085143 35085143 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 35085143 35085143 G A SNP SCGB2B2 ENST00000379204 human ensembl 69_37n -1 known silent c.183 p.L61 0.188 pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin - no_errors SCGB2B2 HGNC ENSG00000205209 198 0 0.00 118 34 22.37 - - - SCN5A 0 genome.wustl.edu 37 3 38655497 38655497 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 38655497 38655497 C T SNP SCN5A ENST00000413689 human ensembl 69_37n -1 known silent c.672 p.L224 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 31 0 0.00 14 8 36.36 - - - SCN5A 0 genome.wustl.edu 37 3 38655497 38655497 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 38655497 38655497 C T SNP SCN5A ENST00000413689 human ensembl 69_37n -1 known silent c.672 p.L224 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 29 0 0.00 14 8 36.36 - - - SFXN2 0 genome.wustl.edu 37 10 104486423 104486423 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 10 104486423 104486423 C T SNP SFXN2 ENST00000369893 human ensembl 69_37n +1 known silent c.30 p.I10 0.987 tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 145 0 0.00 79 33 29.46 - - - SFXN2 0 genome.wustl.edu 37 10 104486423 104486423 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 10 104486423 104486423 C T SNP SFXN2 ENST00000369893 human ensembl 69_37n +1 known silent c.30 p.I10 0.987 tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 78 0 0.00 79 33 29.46 - - - SHROOM3 0 genome.wustl.edu 37 4 77357221 77357221 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 77357221 77357221 G A SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known missense c.16 p.E6K 0.748 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 205 0 0.00 152 72 32.14 - - - SHROOM3 0 genome.wustl.edu 37 4 77357221 77357221 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 77357221 77357221 G A SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known missense c.16 p.E6K 0.748 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 172 0 0.00 152 72 32.14 - - - SIPA1L1 0 genome.wustl.edu 37 14 72176230 72176230 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 72176230 72176230 G C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known missense c.4120 p.D1374H 0.999 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 96 0 0.00 49 25 33.78 - - - SIPA1L1 0 genome.wustl.edu 37 14 72176230 72176230 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 72176230 72176230 G C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known missense c.4120 p.D1374H 0.999 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 88 0 0.00 49 25 33.78 - - - SLC38A9 0 genome.wustl.edu 37 5 54923793 54923793 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 5 54923793 54923793 C G SNP SLC38A9 ENST00000318672 human ensembl 69_37n -1 known silent c.1446 p.L482 0.477 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 81 0 0.00 54 28 34.15 - - - SLC38A9 0 genome.wustl.edu 37 5 54923793 54923793 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 5 54923793 54923793 C G SNP SLC38A9 ENST00000318672 human ensembl 69_37n -1 known silent c.1446 p.L482 0.477 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 104 0 0.00 54 28 34.15 - - - SMYD5 0 genome.wustl.edu 37 2 73447268 73447268 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 73447268 73447268 G C SNP SMYD5 ENST00000389501 human ensembl 69_37n +1 known missense c.295 p.E99Q 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 77 0 0.00 30 16 34.78 - - - SMYD5 0 genome.wustl.edu 37 2 73447268 73447268 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 73447268 73447268 G C SNP SMYD5 ENST00000389501 human ensembl 69_37n +1 known missense c.295 p.E99Q 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 32 0 0.00 30 16 34.78 - - - SNORD115-48 0 genome.wustl.edu 37 15 25514969 25514969 + RNA SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 25514969 25514969 C T SNP SNORD115-48 ENST00000364764 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-48 HGNC ENSG00000201634 123 0 0.00 103 34 24.82 - - - SNORD115-48 0 genome.wustl.edu 37 15 25514969 25514969 + RNA SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 25514969 25514969 C T SNP SNORD115-48 ENST00000364764 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-48 HGNC ENSG00000201634 98 0 0.00 103 34 24.82 - - - SNORD116-22 0 genome.wustl.edu 37 15 25335104 25335104 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 25335104 25335104 G A SNP SNORD116-22 ENST00000384430 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors SNORD116-22 HGNC ENSG00000207159 374 0 0.00 302 135 30.89 - - - SNORD116-22 0 genome.wustl.edu 37 15 25335104 25335104 + RNA SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 25335104 25335104 G A SNP SNORD116-22 ENST00000384430 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors SNORD116-22 HGNC ENSG00000207159 481 0 0.00 302 135 30.89 - - - SNRNP200 0 genome.wustl.edu 37 2 96944592 96944592 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 96944592 96944592 G A SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known silent c.5278 p.L1760 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 169 0 0.00 77 31 28.70 - - - SNRNP200 0 genome.wustl.edu 37 2 96944592 96944592 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 96944592 96944592 G A SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known silent c.5278 p.L1760 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 86 0 0.00 77 31 28.70 - - - SNW1 0 genome.wustl.edu 37 14 78198836 78198836 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 78198836 78198836 C A SNP SNW1 ENST00000261531 human ensembl 69_37n -1 known missense c.883 p.D295Y 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 208 1 0.48 130 48 26.97 - - - SNW1 0 genome.wustl.edu 37 14 78198836 78198836 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 78198836 78198836 C A SNP SNW1 ENST00000261531 human ensembl 69_37n -1 known missense c.883 p.D295Y 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 100 0 0.00 130 48 26.97 - - - SORBS2 0 genome.wustl.edu 37 4 186510869 186510869 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 186510869 186510869 C T SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known missense c.3205 p.D1069N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 382 0 0.00 117 76 39.38 - - - SORBS2 0 genome.wustl.edu 37 4 186510869 186510869 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 186510869 186510869 C T SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known missense c.3205 p.D1069N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 156 0 0.00 117 76 39.38 - - - SOS2 0 genome.wustl.edu 37 14 50623790 50623790 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 50623790 50623790 C G SNP SOS2 ENST00000216373 human ensembl 69_37n -1 known missense c.1984 p.E662Q 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 34 0 0.00 26 17 39.53 - - - SOS2 0 genome.wustl.edu 37 14 50623790 50623790 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 50623790 50623790 C G SNP SOS2 ENST00000216373 human ensembl 69_37n -1 known missense c.1984 p.E662Q 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 44 0 0.00 26 17 39.53 - - - SPEN 0 genome.wustl.edu 37 1 16260889 16260889 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 16260889 16260889 G A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.8154 p.V2718 0.904 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 207 1 0.48 109 45 29.22 - - - SPEN 0 genome.wustl.edu 37 1 16260889 16260889 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 16260889 16260889 G A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.8154 p.V2718 0.904 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 133 0 0.00 109 45 29.22 - - - SPHKAP 0 genome.wustl.edu 37 2 228884261 228884261 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 2 228884261 228884261 C G SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.1309 p.D437H 0.917 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 177 0 0.00 78 31 28.44 - - - SPHKAP 0 genome.wustl.edu 37 2 228884261 228884261 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 2 228884261 228884261 C G SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.1309 p.D437H 0.917 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 116 0 0.00 78 31 28.44 - - - SPTLC2 0 genome.wustl.edu 37 14 77987865 77987865 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 77987865 77987865 C G SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.1363 p.E455Q 0.988 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 151 0 0.00 87 32 26.67 - - - SPTLC2 0 genome.wustl.edu 37 14 77987865 77987865 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 77987865 77987865 C G SNP SPTLC2 ENST00000216484 human ensembl 69_37n -1 known missense c.1363 p.E455Q 0.988 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC2 HGNC ENSG00000100596 96 0 0.00 87 32 26.67 - - - SRPR 0 genome.wustl.edu 37 11 126136689 126136689 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 126136689 126136689 G A SNP SRPR ENST00000332118 human ensembl 69_37n -1 known nonsense c.655 p.Q219* 1.000 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 246 0 0.00 170 54 24.11 - - - SRPR 0 genome.wustl.edu 37 11 126136689 126136689 + Nonsense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 126136689 126136689 G A SNP SRPR ENST00000332118 human ensembl 69_37n -1 known nonsense c.655 p.Q219* 1.000 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 62 0 0.00 170 54 24.11 - - - SRPR 0 genome.wustl.edu 37 11 126137590 126137590 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 126137590 126137590 G C SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.219 p.I73M 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 127 0 0.00 42 18 30.00 - - - SRPR 0 genome.wustl.edu 37 11 126137590 126137590 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 126137590 126137590 G C SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.219 p.I73M 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 35 0 0.00 42 18 30.00 - - - SRPR 0 genome.wustl.edu 37 11 126137924 126137924 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 11 126137924 126137924 C T SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.175 p.D59N 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 110 0 0.00 50 12 19.35 - - - SRPR 0 genome.wustl.edu 37 11 126137924 126137924 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 11 126137924 126137924 C T SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.175 p.D59N 1.000 pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 29 0 0.00 50 12 19.35 - - - SRRM2 0 genome.wustl.edu 37 16 2815760 2815760 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 16 2815760 2815760 G A SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.5231 p.R1744Q 0.232 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 127 0 0.00 86 66 43.14 - - - SRRM2 0 genome.wustl.edu 37 16 2815760 2815760 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 16 2815760 2815760 G A SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.5231 p.R1744Q 0.232 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 106 0 0.00 86 66 43.14 - - - SUCO 0 genome.wustl.edu 37 1 172558405 172558405 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 172558405 172558405 G C SNP SUCO ENST00000367723 human ensembl 69_37n +1 known missense c.2620 p.E874Q 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 244 0 0.00 206 94 31.33 - - - SUCO 0 genome.wustl.edu 37 1 172558405 172558405 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 172558405 172558405 G C SNP SUCO ENST00000367723 human ensembl 69_37n +1 known missense c.2620 p.E874Q 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 203 0 0.00 206 94 31.33 - - - SYNE1 0 genome.wustl.edu 37 6 152642474 152642474 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 6 152642474 152642474 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.16135 p.E5379Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 75 0 0.00 54 23 29.87 - - - SYNE1 0 genome.wustl.edu 37 6 152642474 152642474 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 6 152642474 152642474 C G SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.16135 p.E5379Q 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 42 0 0.00 54 23 29.87 - - - TAF1 0 genome.wustl.edu 37 X 70683834 70683834 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 70683834 70683834 G A SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.5659 p.E1887K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 66 0 0.00 40 14 25.93 - - - TAF1 0 genome.wustl.edu 37 X 70683834 70683834 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 70683834 70683834 G A SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known missense c.5659 p.E1887K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 33 0 0.00 40 14 25.93 - - - TAX1BP1 0 genome.wustl.edu 37 7 27839637 27839637 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 7 27839637 27839637 G A SNP TAX1BP1 ENST00000396319 human ensembl 69_37n +1 known silent c.1692 p.L564 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 98 0 0.00 63 26 29.21 - - - TAX1BP1 0 genome.wustl.edu 37 7 27839637 27839637 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 7 27839637 27839637 G A SNP TAX1BP1 ENST00000396319 human ensembl 69_37n +1 known silent c.1692 p.L564 1.000 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 64 0 0.00 63 26 29.21 - - - TBC1D14 0 genome.wustl.edu 37 4 7026815 7026815 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 7026815 7026815 C T SNP TBC1D14 ENST00000409757 human ensembl 69_37n +1 known silent c.1842 p.F614 0.914 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 246 0 0.00 238 109 31.41 - - - TBC1D14 0 genome.wustl.edu 37 4 7026815 7026815 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 7026815 7026815 C T SNP TBC1D14 ENST00000409757 human ensembl 69_37n +1 known silent c.1842 p.F614 0.914 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 292 0 0.00 238 109 31.41 - - - TEX2 0 genome.wustl.edu 37 17 62272330 62272330 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 62272330 62272330 C G SNP TEX2 ENST00000258991 human ensembl 69_37n -1 known missense c.1770 p.R590S 0.999 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 198 0 0.00 266 40 13.07 - - - TEX2 0 genome.wustl.edu 37 17 62272330 62272330 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 62272330 62272330 C G SNP TEX2 ENST00000258991 human ensembl 69_37n -1 known missense c.1770 p.R590S 0.999 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 93 0 0.00 266 40 13.07 - - - TIMM50 0 genome.wustl.edu 37 19 39971368 39971368 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 39971368 39971368 G C SNP TIMM50 ENST00000314349 human ensembl 69_37n +1 known missense c.184 p.D62H 0.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 57 0 0.00 23 10 30.30 - - - TIMM50 0 genome.wustl.edu 37 19 39971368 39971368 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 39971368 39971368 G C SNP TIMM50 ENST00000314349 human ensembl 69_37n +1 known missense c.184 p.D62H 0.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 32 0 0.00 23 10 30.30 - - - TMEM252 0 genome.wustl.edu 37 9 71155566 71155566 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 9 71155566 71155566 C T SNP TMEM252 ENST00000377311 human ensembl 69_37n -1 known silent c.165 p.L55 1.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 92 0 0.00 76 21 21.65 - - - TMEM252 0 genome.wustl.edu 37 9 71155566 71155566 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 9 71155566 71155566 C T SNP TMEM252 ENST00000377311 human ensembl 69_37n -1 known silent c.165 p.L55 1.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 110 0 0.00 76 21 21.65 - - - TMEM59L 0 genome.wustl.edu 37 19 18731260 18731260 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 18731260 18731260 G A SNP TMEM59L ENST00000262817 human ensembl 69_37n +1 known missense c.943 p.D315N 0.524 NULL pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 43 0 0.00 24 13 35.14 - - - TMEM59L 0 genome.wustl.edu 37 19 18731260 18731260 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 18731260 18731260 G A SNP TMEM59L ENST00000262817 human ensembl 69_37n +1 known missense c.943 p.D315N 0.524 NULL pfam_Uncharacterised_TMEM59 - no_errors TMEM59L HGNC ENSG00000105696 18 0 0.00 24 13 35.14 - - - TNNC2 0 genome.wustl.edu 37 20 44452972 44452972 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 44452972 44452972 C G SNP TNNC2 ENST00000372555 human ensembl 69_37n -1 known missense c.273 p.K91N 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TNNC2 HGNC ENSG00000101470 132 0 0.00 77 40 34.19 - - - TNNC2 0 genome.wustl.edu 37 20 44452972 44452972 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 44452972 44452972 C G SNP TNNC2 ENST00000372555 human ensembl 69_37n -1 known missense c.273 p.K91N 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TNNC2 HGNC ENSG00000101470 71 0 0.00 77 40 34.19 - - - TP53 0 genome.wustl.edu 37 17 7577509 7577509 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 7577509 7577509 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.772 p.E258Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 98 0 0.00 28 20 41.67 - - - TP53 0 genome.wustl.edu 37 17 7577509 7577509 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 7577509 7577509 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.772 p.E258Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 40 0 0.00 28 20 41.67 - - - TPPP2 0 genome.wustl.edu 37 14 21499252 21499252 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 21499252 21499252 G A SNP TPPP2 ENST00000495665 human ensembl 69_37n +1 known missense c.230 p.R77K 0.974 pfam_P25-alpha pfam_P25-alpha - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TPPP2 HGNC ENSG00000179636 445 0 0.00 174 67 27.80 - - - TPPP2 0 genome.wustl.edu 37 14 21499252 21499252 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 21499252 21499252 G A SNP TPPP2 ENST00000495665 human ensembl 69_37n +1 known missense c.230 p.R77K 0.974 pfam_P25-alpha pfam_P25-alpha - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TPPP2 HGNC ENSG00000179636 169 0 0.00 174 67 27.80 - - - TRIM28 0 genome.wustl.edu 37 19 59059687 59059687 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 59059687 59059687 C G SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known silent c.1128 p.L376 0.999 smart_Bbox_C pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 112 0 0.00 36 18 33.33 - - - TRIM28 0 genome.wustl.edu 37 19 59059687 59059687 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 59059687 59059687 C G SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known silent c.1128 p.L376 0.999 smart_Bbox_C pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 32 0 0.00 36 18 33.33 - - - TRIM28 0 genome.wustl.edu 37 19 59059946 59059946 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 59059946 59059946 C G SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known missense c.1310 p.S437C 0.981 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 51 0 0.00 16 5 23.81 - - - TRIM28 0 genome.wustl.edu 37 19 59059946 59059946 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 59059946 59059946 C G SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known missense c.1310 p.S437C 0.981 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 20 0 0.00 16 5 23.81 - - - TRIM37 0 genome.wustl.edu 37 17 57139966 57139966 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 57139966 57139966 G C SNP TRIM37 ENST00000262294 human ensembl 69_37n -1 known missense c.904 p.Q302E 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 121 0 0.00 315 49 13.42 - - - TRIM37 0 genome.wustl.edu 37 17 57139966 57139966 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 57139966 57139966 G C SNP TRIM37 ENST00000262294 human ensembl 69_37n -1 known missense c.904 p.Q302E 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 106 0 0.00 315 49 13.42 - - - TRIP11 0 genome.wustl.edu 37 14 92471025 92471025 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 92471025 92471025 C T SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.3295 p.E1099K 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 150 0 0.00 181 57 23.95 - - - TRIP11 0 genome.wustl.edu 37 14 92471025 92471025 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 92471025 92471025 C T SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.3295 p.E1099K 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 142 0 0.00 181 57 23.95 - - - TTC29 0 genome.wustl.edu 37 4 147724765 147724765 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 147724765 147724765 G A SNP TTC29 ENST00000398886 human ensembl 69_37n -1 known silent c.1252 p.L418 0.469 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 21 0 0.00 36 14 28.00 - - - TTC29 0 genome.wustl.edu 37 4 147724765 147724765 + Silent SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 147724765 147724765 G A SNP TTC29 ENST00000398886 human ensembl 69_37n -1 known silent c.1252 p.L418 0.469 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 39 0 0.00 36 14 28.00 - - - TTI1 0 genome.wustl.edu 37 20 36641850 36641850 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 36641850 36641850 C T SNP TTI1 ENST00000373447 human ensembl 69_37n -1 known silent c.369 p.V123 0.995 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 136 0 0.00 124 48 27.75 - - - TTI1 0 genome.wustl.edu 37 20 36641850 36641850 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 36641850 36641850 C T SNP TTI1 ENST00000373447 human ensembl 69_37n -1 known silent c.369 p.V123 0.995 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 172 0 0.00 124 48 27.75 - - - TXK 0 genome.wustl.edu 37 4 48081956 48081956 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 48081956 48081956 C T SNP TXK ENST00000264316 human ensembl 69_37n -1 known silent c.1146 p.E382 0.983 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 486 1 0.21 472 156 24.80 - - - TXK 0 genome.wustl.edu 37 4 48081956 48081956 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 48081956 48081956 C T SNP TXK ENST00000264316 human ensembl 69_37n -1 known silent c.1146 p.E382 0.983 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 369 0 0.00 472 156 24.80 - - - UGGT2 0 genome.wustl.edu 37 13 96589256 96589256 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 13 96589256 96589256 C T SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known missense c.1899 p.M633I 0.457 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 174 0 0.00 196 74 27.41 - - - UGGT2 0 genome.wustl.edu 37 13 96589256 96589256 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 13 96589256 96589256 C T SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known missense c.1899 p.M633I 0.457 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 231 0 0.00 196 74 27.41 - - - UGT2B4 0 genome.wustl.edu 37 4 70346610 70346610 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 70346610 70346610 C G SNP UGT2B4 ENST00000305107 human ensembl 69_37n -1 known missense c.1329 p.M443I 0.960 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 273 0 0.00 224 86 27.74 - - - UGT2B4 0 genome.wustl.edu 37 4 70346610 70346610 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 70346610 70346610 C G SNP UGT2B4 ENST00000305107 human ensembl 69_37n -1 known missense c.1329 p.M443I 0.960 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 196 0 0.00 224 86 27.74 - - - UNC5D 0 genome.wustl.edu 37 8 35542203 35542203 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 35542203 35542203 C G SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known silent c.855 p.L285 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 303 0 0.00 106 43 28.67 - - - UNC5D 0 genome.wustl.edu 37 8 35542203 35542203 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 35542203 35542203 C G SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known silent c.855 p.L285 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 124 0 0.00 106 43 28.67 - - - USH2A 0 genome.wustl.edu 37 1 216373262 216373262 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 1 216373262 216373262 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3518 p.S1173L 0.818 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 283 0 0.00 243 100 29.15 - - - USH2A 0 genome.wustl.edu 37 1 216373262 216373262 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 1 216373262 216373262 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.3518 p.S1173L 0.818 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 184 0 0.00 243 100 29.15 - - - USP51 0 genome.wustl.edu 37 X 55514740 55514740 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 X 55514740 55514740 C G SNP USP51 ENST00000500968 human ensembl 69_37n -1 known silent c.633 p.L211 0.984 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 53 0 0.00 34 6 15.00 - - - USP51 0 genome.wustl.edu 37 X 55514740 55514740 + Silent SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f X 55514740 55514740 C G SNP USP51 ENST00000500968 human ensembl 69_37n -1 known silent c.633 p.L211 0.984 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 125 0 0.00 34 6 15.00 - - - VPS13B 0 genome.wustl.edu 37 8 100866400 100866400 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 100866400 100866400 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.10858 p.E3620K 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 128 0 0.00 126 93 42.47 - - - VPS13B 0 genome.wustl.edu 37 8 100866400 100866400 + Missense_Mutation SNP G G A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 100866400 100866400 G A SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.10858 p.E3620K 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 136 0 0.00 126 93 42.47 - - - VPS8 0 genome.wustl.edu 37 3 184543993 184543993 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 184543993 184543993 C G SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.196 p.P66A 1.000 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 134 0 0.00 87 27 23.68 - - - VPS8 0 genome.wustl.edu 37 3 184543993 184543993 + Missense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 184543993 184543993 C G SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.196 p.P66A 1.000 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 74 0 0.00 87 27 23.68 - - - WDFY3 0 genome.wustl.edu 37 4 85762417 85762417 + Splice_Site SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 85762417 85762417 C A SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known splice_site c.305-1 e3-1 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 77 0 0.00 72 44 37.93 - - - WDFY3 0 genome.wustl.edu 37 4 85762417 85762417 + Splice_Site SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 85762417 85762417 C A SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known splice_site c.305-1 e3-1 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 81 0 0.00 72 44 37.93 - - - WRN 0 genome.wustl.edu 37 8 30982427 30982427 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 8 30982427 30982427 C T SNP WRN ENST00000298139 human ensembl 69_37n +1 known silent c.2736 p.I912 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 178 1 0.56 189 90 32.26 - - - WRN 0 genome.wustl.edu 37 8 30982427 30982427 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 8 30982427 30982427 C T SNP WRN ENST00000298139 human ensembl 69_37n +1 known silent c.2736 p.I912 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 143 0 0.00 189 90 32.26 - - - ZFYVE26 0 genome.wustl.edu 37 14 68229412 68229412 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 14 68229412 68229412 C T SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.6136 p.E2046K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 133 0 0.00 86 43 33.33 - - - ZFYVE26 0 genome.wustl.edu 37 14 68229412 68229412 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 14 68229412 68229412 C T SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.6136 p.E2046K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 56 0 0.00 86 43 33.33 - - - ZNF286B 0 genome.wustl.edu 37 17 18566541 18566541 + Splice_Site SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 17 18566541 18566541 C T SNP ZNF286B ENST00000285274 human ensembl 69_37n -1 putative splice_site c.127-1 e3-1 0.843 - - - no_stop_codon:bad_bp_length_for_coding_region ZNF286B HGNC ENSG00000249459 115 0 0.00 68 23 25.27 - - - ZNF286B 0 genome.wustl.edu 37 17 18566541 18566541 + Splice_Site SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 17 18566541 18566541 C T SNP ZNF286B ENST00000285274 human ensembl 69_37n -1 putative splice_site c.127-1 e3-1 0.843 - - - no_stop_codon:bad_bp_length_for_coding_region ZNF286B HGNC ENSG00000249459 59 0 0.00 68 23 25.27 - - - ZNF337 0 genome.wustl.edu 37 20 25656844 25656844 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 20 25656844 25656844 C A SNP ZNF337 ENST00000252979 human ensembl 69_37n -1 known missense c.1080 p.K360N 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 290 0 0.00 221 110 33.23 - - - ZNF337 0 genome.wustl.edu 37 20 25656844 25656844 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 20 25656844 25656844 C A SNP ZNF337 ENST00000252979 human ensembl 69_37n -1 known missense c.1080 p.K360N 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 338 0 0.00 221 110 33.23 - - - ZNF439 0 genome.wustl.edu 37 19 11978285 11978285 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 11978285 11978285 C T SNP ZNF439 ENST00000304030 human ensembl 69_37n +1 known missense c.401 p.S134F 0.053 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 ZNF439 HGNC ENSG00000171291 729 0 0.00 382 173 31.12 - - - ZNF439 0 genome.wustl.edu 37 19 11978285 11978285 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 11978285 11978285 C T SNP ZNF439 ENST00000304030 human ensembl 69_37n +1 known missense c.401 p.S134F 0.053 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 ZNF439 HGNC ENSG00000171291 349 0 0.00 382 173 31.12 - - - ZNF492 0 genome.wustl.edu 37 19 22847268 22847268 + Nonsense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 22847268 22847268 C G SNP ZNF492 ENST00000456783 human ensembl 69_37n +1 known nonsense c.797 p.S266* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 177 0 0.00 120 50 29.41 - - - ZNF492 0 genome.wustl.edu 37 19 22847268 22847268 + Nonsense_Mutation SNP C C G TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 22847268 22847268 C G SNP ZNF492 ENST00000456783 human ensembl 69_37n +1 known nonsense c.797 p.S266* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 136 0 0.00 120 50 29.41 - - - ZNF554 0 genome.wustl.edu 37 19 2832427 2832427 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 2832427 2832427 C A SNP ZNF554 ENST00000317243 human ensembl 69_37n +1 known missense c.380 p.S127Y 0.024 pfscan_Krueppel-associated_box 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 ZNF554 HGNC ENSG00000172006 279 0 0.00 127 50 28.25 - - - ZNF554 0 genome.wustl.edu 37 19 2832427 2832427 + Missense_Mutation SNP C C A TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 2832427 2832427 C A SNP ZNF554 ENST00000317243 human ensembl 69_37n +1 known missense c.380 p.S127Y 0.024 pfscan_Krueppel-associated_box 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 ZNF554 HGNC ENSG00000172006 87 0 0.00 127 50 28.25 - - - ZNF592 0 genome.wustl.edu 37 15 85326354 85326354 + Nonsense_Mutation SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 15 85326354 85326354 G T SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known nonsense c.448 p.E150* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 295 0 0.00 210 89 29.77 - - - ZNF592 0 genome.wustl.edu 37 15 85326354 85326354 + Nonsense_Mutation SNP G G T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 15 85326354 85326354 G T SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known nonsense c.448 p.E150* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 248 0 0.00 210 89 29.77 - - - ZNF721 0 genome.wustl.edu 37 4 437193 437193 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 4 437193 437193 G C SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known missense c.1063 p.H355D 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 367 0 0.00 220 92 29.49 - - - ZNF721 0 genome.wustl.edu 37 4 437193 437193 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 4 437193 437193 G C SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known missense c.1063 p.H355D 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 200 1 0.50 220 92 29.49 - - - ZNF780A 0 genome.wustl.edu 37 19 40581547 40581547 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 19 40581547 40581547 G C SNP ZNF780A ENST00000455521 human ensembl 69_37n -1 known missense c.805 p.Q269E 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ENSG00000197782 524 0 0.00 522 224 29.99 - - - ZNF780A 0 genome.wustl.edu 37 19 40581547 40581547 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 19 40581547 40581547 G C SNP ZNF780A ENST00000455521 human ensembl 69_37n -1 known missense c.805 p.Q269E 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780A HGNC ENSG00000197782 550 0 0.00 522 224 29.99 - - - ZXDC 0 genome.wustl.edu 37 3 126185056 126185056 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe dfd32478-8fa8-42a1-b5f7-329c02aa8f87 3 126185056 126185056 G C SNP ZXDC ENST00000515545 human ensembl 69_37n -1 known missense c.505 p.L169V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZXDC HGNC ENSG00000070476 101 0 0.00 33 26 44.07 - - - ZXDC 0 genome.wustl.edu 37 3 126185056 126185056 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-11A-22W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6418b7f-96b4-424a-8737-d382ece37afe 4144f1ac-bfb3-48f2-bb03-1e82640b5a1f 3 126185056 126185056 G C SNP ZXDC ENST00000515545 human ensembl 69_37n -1 known missense c.505 p.L169V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZXDC HGNC ENSG00000070476 54 0 0.00 33 26 44.07 - - -