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 ACSS3 0 genome.wustl.edu 37 12 81545639 81545639 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 81545639 81545639 C T SNP ACSS3 ENST00000548058 human ensembl 69_37n +1 known missense c.938 p.T313I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 261 0 0.00 335 136 28.87 - - - ACSS3 0 genome.wustl.edu 37 12 81545639 81545639 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 81545639 81545639 C T SNP ACSS3 ENST00000548058 human ensembl 69_37n +1 known missense c.938 p.T313I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 292 0 0.00 335 136 28.87 - - - ACSS3 0 genome.wustl.edu 37 12 81545639 81545639 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 81545639 81545639 C T SNP ACSS3 ENST00000548058 human ensembl 69_37n +1 known missense c.938 p.T313I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 261 0 0.00 243 99 28.95 - - - ACSS3 0 genome.wustl.edu 37 12 81545639 81545639 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 81545639 81545639 C T SNP ACSS3 ENST00000548058 human ensembl 69_37n +1 known missense c.938 p.T313I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448 - no_errors ACSS3 HGNC ENSG00000111058 292 0 0.00 243 99 28.95 - - - AHCTF1 0 genome.wustl.edu 37 1 247079596 247079596 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 247079596 247079596 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known nonsense c.250 p.E84* 0.999 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 50 0 0.00 105 28 21.05 - - - AHCTF1 0 genome.wustl.edu 37 1 247079596 247079596 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 247079596 247079596 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known nonsense c.250 p.E84* 0.999 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 51 0 0.00 105 28 21.05 - - - AHCTF1 0 genome.wustl.edu 37 1 247079596 247079596 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 247079596 247079596 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known nonsense c.250 p.E84* 0.999 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 50 0 0.00 68 17 20.00 - - - AHCTF1 0 genome.wustl.edu 37 1 247079596 247079596 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 247079596 247079596 C A SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known nonsense c.250 p.E84* 0.999 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 51 0 0.00 68 17 20.00 - - - AMOTL1 0 genome.wustl.edu 37 11 94532836 94532836 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 11 94532836 94532836 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known silent c.480 p.P160 0.997 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 80 0 0.00 25 6 19.35 - - - AMOTL1 0 genome.wustl.edu 37 11 94532836 94532836 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 11 94532836 94532836 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known silent c.480 p.P160 0.997 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 87 0 0.00 25 6 19.35 - - - AMOTL1 0 genome.wustl.edu 37 11 94532836 94532836 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 11 94532836 94532836 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known silent c.480 p.P160 0.997 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 80 0 0.00 17 4 19.05 - - - AMOTL1 0 genome.wustl.edu 37 11 94532836 94532836 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 11 94532836 94532836 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known silent c.480 p.P160 0.997 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 87 0 0.00 17 4 19.05 - - - ANPEP 0 genome.wustl.edu 37 15 90349393 90349393 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 90349393 90349393 C T SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.422 p.G141D 0.024 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 112 0 0.00 33 9 20.93 - - - ANPEP 0 genome.wustl.edu 37 15 90349393 90349393 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 90349393 90349393 C T SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.422 p.G141D 0.024 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 146 0 0.00 33 9 20.93 - - - ANPEP 0 genome.wustl.edu 37 15 90349393 90349393 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 90349393 90349393 C T SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.422 p.G141D 0.024 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 112 0 0.00 23 5 17.24 - - - ANPEP 0 genome.wustl.edu 37 15 90349393 90349393 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 90349393 90349393 C T SNP ANPEP ENST00000300060 human ensembl 69_37n -1 known missense c.422 p.G141D 0.024 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 146 0 0.00 23 5 17.24 - - - CEPT1 0 genome.wustl.edu 37 1 111724830 111724830 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 111724830 111724830 A T SNP CEPT1 ENST00000357172 human ensembl 69_37n +1 known missense c.736 p.M246L 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 118 0 0.00 197 69 25.94 - - - CEPT1 0 genome.wustl.edu 37 1 111724830 111724830 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 111724830 111724830 A T SNP CEPT1 ENST00000357172 human ensembl 69_37n +1 known missense c.736 p.M246L 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 149 0 0.00 197 69 25.94 - - - CEPT1 0 genome.wustl.edu 37 1 111724830 111724830 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 111724830 111724830 A T SNP CEPT1 ENST00000357172 human ensembl 69_37n +1 known missense c.736 p.M246L 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 118 0 0.00 143 51 26.29 - - - CEPT1 0 genome.wustl.edu 37 1 111724830 111724830 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 111724830 111724830 A T SNP CEPT1 ENST00000357172 human ensembl 69_37n +1 known missense c.736 p.M246L 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 149 0 0.00 143 51 26.29 - - - COPB2 0 genome.wustl.edu 37 3 139077630 139077630 + Frame_Shift_Del DEL C C - TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077630 139077630 C - DEL COPB2 ENST00000333188 human ensembl 69_37n -1 known frame_shift_del c.2509 p.E837fs 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 227 0 0.00 300 70 18.52 - - - COPB2 0 genome.wustl.edu 37 3 139077630 139077630 + Frame_Shift_Del DEL C C - TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077630 139077630 C - DEL COPB2 ENST00000333188 human ensembl 69_37n -1 known frame_shift_del c.2509 p.E837fs 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 229 0 0.00 300 70 18.52 - - - COPB2 0 genome.wustl.edu 37 3 139077630 139077630 + Frame_Shift_Del DEL C C - TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077630 139077630 C - DEL COPB2 ENST00000333188 human ensembl 69_37n -1 known frame_shift_del c.2509 p.E837fs 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 227 0 0.00 211 46 17.69 - - - COPB2 0 genome.wustl.edu 37 3 139077630 139077630 + Frame_Shift_Del DEL C C - TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077630 139077630 C - DEL COPB2 ENST00000333188 human ensembl 69_37n -1 known frame_shift_del c.2509 p.E837fs 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 229 0 0.00 211 46 17.69 - - - COPB2 0 genome.wustl.edu 37 3 139077631 139077631 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077631 139077631 C T SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2508 p.M836I 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 228 0 0.00 304 73 19.16 - - - COPB2 0 genome.wustl.edu 37 3 139077631 139077631 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077631 139077631 C T SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2508 p.M836I 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 230 0 0.00 304 73 19.16 - - - COPB2 0 genome.wustl.edu 37 3 139077631 139077631 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077631 139077631 C T SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2508 p.M836I 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 228 0 0.00 211 49 18.85 - - - COPB2 0 genome.wustl.edu 37 3 139077631 139077631 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077631 139077631 C T SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2508 p.M836I 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 230 0 0.00 211 49 18.85 - - - COPB2 0 genome.wustl.edu 37 3 139077632 139077632 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077632 139077632 A G SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2507 p.M836T 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 227 0 0.00 299 74 19.68 - - - COPB2 0 genome.wustl.edu 37 3 139077632 139077632 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 139077632 139077632 A G SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2507 p.M836T 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 231 0 0.00 299 74 19.68 - - - COPB2 0 genome.wustl.edu 37 3 139077632 139077632 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077632 139077632 A G SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2507 p.M836T 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 227 0 0.00 207 50 19.46 - - - COPB2 0 genome.wustl.edu 37 3 139077632 139077632 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 139077632 139077632 A G SNP COPB2 ENST00000333188 human ensembl 69_37n -1 known missense c.2507 p.M836T 1.000 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 231 0 0.00 207 50 19.46 - - - DPP10 0 genome.wustl.edu 37 2 116572515 116572515 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 2 116572515 116572515 A T SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.1859 p.H620L 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 169 0 0.00 202 57 22.01 - - - DPP10 0 genome.wustl.edu 37 2 116572515 116572515 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 2 116572515 116572515 A T SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.1859 p.H620L 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 184 0 0.00 202 57 22.01 - - - DPP10 0 genome.wustl.edu 37 2 116572515 116572515 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 2 116572515 116572515 A T SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.1859 p.H620L 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 169 0 0.00 141 43 23.37 - - - DPP10 0 genome.wustl.edu 37 2 116572515 116572515 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 2 116572515 116572515 A T SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.1859 p.H620L 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 184 0 0.00 141 43 23.37 - - - DPYSL2 0 genome.wustl.edu 37 8 26484190 26484190 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 8 26484190 26484190 G A SNP DPYSL2 ENST00000311151 human ensembl 69_37n +1 known missense c.536 p.C179Y 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 204 0 0.00 174 57 24.68 - - - DPYSL2 0 genome.wustl.edu 37 8 26484190 26484190 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 8 26484190 26484190 G A SNP DPYSL2 ENST00000311151 human ensembl 69_37n +1 known missense c.536 p.C179Y 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 244 0 0.00 174 57 24.68 - - - DPYSL2 0 genome.wustl.edu 37 8 26484190 26484190 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 8 26484190 26484190 G A SNP DPYSL2 ENST00000311151 human ensembl 69_37n +1 known missense c.536 p.C179Y 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 204 0 0.00 128 42 24.71 - - - DPYSL2 0 genome.wustl.edu 37 8 26484190 26484190 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 8 26484190 26484190 G A SNP DPYSL2 ENST00000311151 human ensembl 69_37n +1 known missense c.536 p.C179Y 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 244 0 0.00 128 42 24.71 - - - FAM22G 0 genome.wustl.edu 37 9 99701178 99701178 + Missense_Mutation SNP A A C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 9 99701178 99701178 A C SNP FAM22G ENST00000372322 human ensembl 69_37n +1 known missense c.1973 p.Q658P 0.009 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 157 0 0.00 113 18 13.64 - - - FAM22G 0 genome.wustl.edu 37 9 99701178 99701178 + Missense_Mutation SNP A A C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 9 99701178 99701178 A C SNP FAM22G ENST00000372322 human ensembl 69_37n +1 known missense c.1973 p.Q658P 0.009 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 207 1 0.48 113 18 13.64 - - - FAM22G 0 genome.wustl.edu 37 9 99701178 99701178 + Missense_Mutation SNP A A C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 9 99701178 99701178 A C SNP FAM22G ENST00000372322 human ensembl 69_37n +1 known missense c.1973 p.Q658P 0.009 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 157 0 0.00 79 11 12.22 - - - FAM22G 0 genome.wustl.edu 37 9 99701178 99701178 + Missense_Mutation SNP A A C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 9 99701178 99701178 A C SNP FAM22G ENST00000372322 human ensembl 69_37n +1 known missense c.1973 p.Q658P 0.009 NULL NULL - no_errors FAM22G HGNC ENSG00000188152 207 1 0.48 79 11 12.22 - - - FCGR2A 0 genome.wustl.edu 37 1 161475284 161475284 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 161475284 161475284 G A SNP FCGR2A ENST00000271450 human ensembl 69_37n +1 known silent c.27 p.Q9 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 192 0 0.00 135 38 21.97 - - - FCGR2A 0 genome.wustl.edu 37 1 161475284 161475284 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 161475284 161475284 G A SNP FCGR2A ENST00000271450 human ensembl 69_37n +1 known silent c.27 p.Q9 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 222 0 0.00 135 38 21.97 - - - FCGR2A 0 genome.wustl.edu 37 1 161475284 161475284 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 161475284 161475284 G A SNP FCGR2A ENST00000271450 human ensembl 69_37n +1 known silent c.27 p.Q9 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 192 0 0.00 91 26 22.22 - - - FCGR2A 0 genome.wustl.edu 37 1 161475284 161475284 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 161475284 161475284 G A SNP FCGR2A ENST00000271450 human ensembl 69_37n +1 known silent c.27 p.Q9 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR2A HGNC ENSG00000143226 222 0 0.00 91 26 22.22 - - - GAB4 0 genome.wustl.edu 37 22 17450868 17450868 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 22 17450868 17450868 C G SNP GAB4 ENST00000400588 human ensembl 69_37n -1 known missense c.902 p.R301T 0.989 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 122 0 0.00 29 16 35.56 - - - GAB4 0 genome.wustl.edu 37 22 17450868 17450868 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 22 17450868 17450868 C G SNP GAB4 ENST00000400588 human ensembl 69_37n -1 known missense c.902 p.R301T 0.989 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 122 0 0.00 20 13 39.39 - - - GTSE1 0 genome.wustl.edu 37 22 46712235 46712235 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 22 46712235 46712235 A T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1358 p.D453V 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 44 0 0.00 43 21 32.81 - - - GTSE1 0 genome.wustl.edu 37 22 46712235 46712235 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 22 46712235 46712235 A T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1358 p.D453V 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 45 0 0.00 43 21 32.81 - - - GTSE1 0 genome.wustl.edu 37 22 46712235 46712235 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 22 46712235 46712235 A T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1358 p.D453V 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 44 0 0.00 28 13 31.71 - - - GTSE1 0 genome.wustl.edu 37 22 46712235 46712235 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 22 46712235 46712235 A T SNP GTSE1 ENST00000454366 human ensembl 69_37n +1 known missense c.1358 p.D453V 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 45 0 0.00 28 13 31.71 - - - HKDC1 0 genome.wustl.edu 37 10 71007230 71007230 + Silent SNP G G T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 10 71007230 71007230 G T SNP HKDC1 ENST00000354624 human ensembl 69_37n +1 known silent c.1146 p.S382 0.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 70 0 0.00 32 4 11.11 - - - HKDC1 0 genome.wustl.edu 37 10 71007230 71007230 + Silent SNP G G T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 10 71007230 71007230 G T SNP HKDC1 ENST00000354624 human ensembl 69_37n +1 known silent c.1146 p.S382 0.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 72 0 0.00 32 4 11.11 - - - HKDC1 0 genome.wustl.edu 37 10 71007230 71007230 + Silent SNP G G T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 10 71007230 71007230 G T SNP HKDC1 ENST00000354624 human ensembl 69_37n +1 known silent c.1146 p.S382 0.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 70 0 0.00 23 4 14.81 - - - HKDC1 0 genome.wustl.edu 37 10 71007230 71007230 + Silent SNP G G T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 10 71007230 71007230 G T SNP HKDC1 ENST00000354624 human ensembl 69_37n +1 known silent c.1146 p.S382 0.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 72 0 0.00 23 4 14.81 - - - HMGXB4 0 genome.wustl.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 22 35661544 35661544 A - DEL HMGXB4 ENST00000216106 human ensembl 69_37n +1 known frame_shift_del c.1163 p.K391fs 1.000 superfamily_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 50 0 0.00 34 4 10.53 - - - LYZL6 0 genome.wustl.edu 37 17 34264775 34264775 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 17 34264775 34264775 G A SNP LYZL6 ENST00000492340 human ensembl 69_37n -1 known missense c.191 p.T64M 0.078 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LYZL6 HGNC ENSG00000161572 126 0 0.00 52 39 42.86 - - - LYZL6 0 genome.wustl.edu 37 17 34264775 34264775 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 17 34264775 34264775 G A SNP LYZL6 ENST00000492340 human ensembl 69_37n -1 known missense c.191 p.T64M 0.078 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LYZL6 HGNC ENSG00000161572 155 0 0.00 52 39 42.86 - - - LYZL6 0 genome.wustl.edu 37 17 34264775 34264775 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 17 34264775 34264775 G A SNP LYZL6 ENST00000492340 human ensembl 69_37n -1 known missense c.191 p.T64M 0.078 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LYZL6 HGNC ENSG00000161572 126 0 0.00 36 27 42.86 - - - LYZL6 0 genome.wustl.edu 37 17 34264775 34264775 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 17 34264775 34264775 G A SNP LYZL6 ENST00000492340 human ensembl 69_37n -1 known missense c.191 p.T64M 0.078 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LYZL6 HGNC ENSG00000161572 155 0 0.00 36 27 42.86 - - - MEF2C 0 genome.wustl.edu 37 5 88018447 88018447 + Nonsense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 5 88018447 88018447 G A SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known nonsense c.1396 p.R466* 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 68 0 0.00 37 18 32.73 - - - MEF2C 0 genome.wustl.edu 37 5 88018447 88018447 + Nonsense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 5 88018447 88018447 G A SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known nonsense c.1396 p.R466* 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 75 0 0.00 37 18 32.73 - - - MEF2C 0 genome.wustl.edu 37 5 88018447 88018447 + Nonsense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 5 88018447 88018447 G A SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known nonsense c.1396 p.R466* 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 68 0 0.00 26 8 23.53 - - - MEF2C 0 genome.wustl.edu 37 5 88018447 88018447 + Nonsense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 5 88018447 88018447 G A SNP MEF2C ENST00000437473 human ensembl 69_37n -1 known nonsense c.1396 p.R466* 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 75 0 0.00 26 8 23.53 - - - MYO5A 0 genome.wustl.edu 37 15 52620094 52620094 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 52620094 52620094 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.4665 p.R1555 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 214 0 0.00 258 82 24.12 - - - MYO5A 0 genome.wustl.edu 37 15 52620094 52620094 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 52620094 52620094 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.4665 p.R1555 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 305 0 0.00 258 82 24.12 - - - MYO5A 0 genome.wustl.edu 37 15 52620094 52620094 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 52620094 52620094 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.4665 p.R1555 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 214 0 0.00 173 56 24.45 - - - MYO5A 0 genome.wustl.edu 37 15 52620094 52620094 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 52620094 52620094 C T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.4665 p.R1555 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 305 0 0.00 173 56 24.45 - - - PCDH7 0 genome.wustl.edu 37 4 30725361 30725361 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 4 30725361 30725361 G A SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known missense c.2317 p.D773N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 41 0 0.00 38 10 20.83 - - - PCDH7 0 genome.wustl.edu 37 4 30725361 30725361 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 4 30725361 30725361 G A SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known missense c.2317 p.D773N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 44 0 0.00 38 10 20.83 - - - PCDH7 0 genome.wustl.edu 37 4 30725361 30725361 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 4 30725361 30725361 G A SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known missense c.2317 p.D773N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 41 0 0.00 27 10 27.03 - - - PCDH7 0 genome.wustl.edu 37 4 30725361 30725361 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 4 30725361 30725361 G A SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known missense c.2317 p.D773N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 44 0 0.00 27 10 27.03 - - - PCDHGB1 0 genome.wustl.edu 37 5 140731309 140731309 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 5 140731309 140731309 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known silent c.1482 p.P494 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 17 0 0.00 6 5 45.45 - - - PCDHGB1 0 genome.wustl.edu 37 5 140731309 140731309 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 5 140731309 140731309 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known silent c.1482 p.P494 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 28 0 0.00 6 5 45.45 - - - PCDHGB1 0 genome.wustl.edu 37 5 140731309 140731309 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 5 140731309 140731309 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known silent c.1482 p.P494 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 17 0 0.00 6 4 40.00 - - - PCDHGB1 0 genome.wustl.edu 37 5 140731309 140731309 + Silent SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 5 140731309 140731309 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known silent c.1482 p.P494 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 28 0 0.00 6 4 40.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 138 0 0.00 130 99 43.23 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 143 0 0.00 130 99 43.23 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 138 0 0.00 88 63 41.72 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 143 0 0.00 88 63 41.72 - - - PMEL 0 genome.wustl.edu 37 12 56349111 56349111 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 56349111 56349111 G A SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.1354 p.R452 0.192 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 116 0 0.00 45 14 23.73 - - - PMEL 0 genome.wustl.edu 37 12 56349111 56349111 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 56349111 56349111 G A SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.1354 p.R452 0.192 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 129 0 0.00 45 14 23.73 - - - PMEL 0 genome.wustl.edu 37 12 56349111 56349111 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 56349111 56349111 G A SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.1354 p.R452 0.192 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 116 0 0.00 32 8 20.00 - - - PMEL 0 genome.wustl.edu 37 12 56349111 56349111 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 56349111 56349111 G A SNP PMEL ENST00000549404 human ensembl 69_37n -1 novel missense c.1354 p.R452 0.192 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PMEL HGNC ENSG00000185664 129 0 0.00 32 8 20.00 - - - SFPQ 0 genome.wustl.edu 37 1 35656463 35656463 + Missense_Mutation SNP T T C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 35656463 35656463 T C SNP SFPQ ENST00000357214 human ensembl 69_37n -1 known missense c.1151 p.N384S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 139 0 0.00 120 48 28.57 - - - SFPQ 0 genome.wustl.edu 37 1 35656463 35656463 + Missense_Mutation SNP T T C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 35656463 35656463 T C SNP SFPQ ENST00000357214 human ensembl 69_37n -1 known missense c.1151 p.N384S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 199 0 0.00 120 48 28.57 - - - SFPQ 0 genome.wustl.edu 37 1 35656463 35656463 + Missense_Mutation SNP T T C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 35656463 35656463 T C SNP SFPQ ENST00000357214 human ensembl 69_37n -1 known missense c.1151 p.N384S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 139 0 0.00 84 30 26.32 - - - SFPQ 0 genome.wustl.edu 37 1 35656463 35656463 + Missense_Mutation SNP T T C TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 35656463 35656463 T C SNP SFPQ ENST00000357214 human ensembl 69_37n -1 known missense c.1151 p.N384S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 199 0 0.00 84 30 26.32 - - - SMYD1 0 genome.wustl.edu 37 2 88390554 88390554 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 2 88390554 88390554 C T SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known silent c.552 p.L184 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 186 1 0.53 137 64 31.84 - - - SMYD1 0 genome.wustl.edu 37 2 88390554 88390554 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 2 88390554 88390554 C T SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known silent c.552 p.L184 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 221 0 0.00 137 64 31.84 - - - SMYD1 0 genome.wustl.edu 37 2 88390554 88390554 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 2 88390554 88390554 C T SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known silent c.552 p.L184 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 186 1 0.53 102 47 31.54 - - - SMYD1 0 genome.wustl.edu 37 2 88390554 88390554 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 2 88390554 88390554 C T SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known silent c.552 p.L184 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 221 0 0.00 102 47 31.54 - - - SRRM4 0 genome.wustl.edu 37 12 119583290 119583290 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 119583290 119583290 C T SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known silent c.876 p.S292 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 50 0 0.00 18 11 37.93 - - - SRRM4 0 genome.wustl.edu 37 12 119583290 119583290 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 12 119583290 119583290 C T SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known silent c.876 p.S292 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 52 0 0.00 18 11 37.93 - - - SRRM4 0 genome.wustl.edu 37 12 119583290 119583290 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 119583290 119583290 C T SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known silent c.876 p.S292 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 50 0 0.00 13 9 40.91 - - - SRRM4 0 genome.wustl.edu 37 12 119583290 119583290 + Silent SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 12 119583290 119583290 C T SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known silent c.876 p.S292 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 52 0 0.00 13 9 40.91 - - - STAG1 0 genome.wustl.edu 37 3 136136813 136136813 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 136136813 136136813 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2110 p.A704P 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 199 0 0.00 228 73 24.25 - - - STAG1 0 genome.wustl.edu 37 3 136136813 136136813 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 136136813 136136813 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2110 p.A704P 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 221 0 0.00 228 73 24.25 - - - STAG1 0 genome.wustl.edu 37 3 136136813 136136813 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 136136813 136136813 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2110 p.A704P 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 199 0 0.00 159 53 25.00 - - - STAG1 0 genome.wustl.edu 37 3 136136813 136136813 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 136136813 136136813 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2110 p.A704P 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 221 0 0.00 159 53 25.00 - - - TDRD6 0 genome.wustl.edu 37 6 46657115 46657115 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 6 46657115 46657115 A G SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.1250 p.H417R 0.982 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 48 0 0.00 34 11 23.91 - - - TDRD6 0 genome.wustl.edu 37 6 46657115 46657115 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 6 46657115 46657115 A G SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.1250 p.H417R 0.982 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 68 0 0.00 34 11 23.91 - - - TDRD6 0 genome.wustl.edu 37 6 46657115 46657115 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 6 46657115 46657115 A G SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.1250 p.H417R 0.982 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 48 0 0.00 20 7 25.93 - - - TDRD6 0 genome.wustl.edu 37 6 46657115 46657115 + Missense_Mutation SNP A A G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 6 46657115 46657115 A G SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.1250 p.H417R 0.982 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 68 0 0.00 20 7 25.93 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 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 116 0 0.00 20 12 37.50 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 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 139 0 0.00 20 12 37.50 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 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 116 0 0.00 14 10 41.67 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 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 139 0 0.00 14 10 41.67 - - - UBR4 0 genome.wustl.edu 37 1 19464532 19464532 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 19464532 19464532 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8875 p.E2959Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 102 0 0.00 91 11 10.78 - - - UBR4 0 genome.wustl.edu 37 1 19464532 19464532 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 1 19464532 19464532 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8875 p.E2959Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 119 0 0.00 91 11 10.78 - - - UBR4 0 genome.wustl.edu 37 1 19464532 19464532 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 19464532 19464532 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8875 p.E2959Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 102 0 0.00 59 8 11.94 - - - UBR4 0 genome.wustl.edu 37 1 19464532 19464532 + Missense_Mutation SNP C C G TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 1 19464532 19464532 C G SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.8875 p.E2959Q 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 119 0 0.00 59 8 11.94 - - - UNC13C 0 genome.wustl.edu 37 15 54556502 54556502 + Silent SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 54556502 54556502 T A SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known silent c.3585 p.I1195 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 107 0 0.00 174 68 27.87 - - - UNC13C 0 genome.wustl.edu 37 15 54556502 54556502 + Silent SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 15 54556502 54556502 T A SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known silent c.3585 p.I1195 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 109 0 0.00 174 68 27.87 - - - UNC13C 0 genome.wustl.edu 37 15 54556502 54556502 + Silent SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 54556502 54556502 T A SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known silent c.3585 p.I1195 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 107 0 0.00 121 49 28.82 - - - UNC13C 0 genome.wustl.edu 37 15 54556502 54556502 + Silent SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 15 54556502 54556502 T A SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known silent c.3585 p.I1195 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 109 0 0.00 121 49 28.82 - - - WDR48 0 genome.wustl.edu 37 3 39136217 39136217 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 39136217 39136217 C T SNP WDR48 ENST00000302313 human ensembl 69_37n +1 known missense c.2017 p.R673C 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR48 HGNC ENSG00000114742 75 0 0.00 62 22 25.88 - - - WDR48 0 genome.wustl.edu 37 3 39136217 39136217 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 3 39136217 39136217 C T SNP WDR48 ENST00000302313 human ensembl 69_37n +1 known missense c.2017 p.R673C 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR48 HGNC ENSG00000114742 89 0 0.00 62 22 25.88 - - - WDR48 0 genome.wustl.edu 37 3 39136217 39136217 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 39136217 39136217 C T SNP WDR48 ENST00000302313 human ensembl 69_37n +1 known missense c.2017 p.R673C 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR48 HGNC ENSG00000114742 75 0 0.00 43 17 27.87 - - - WDR48 0 genome.wustl.edu 37 3 39136217 39136217 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 3 39136217 39136217 C T SNP WDR48 ENST00000302313 human ensembl 69_37n +1 known missense c.2017 p.R673C 1.000 pfam_DUF3337 pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR48 HGNC ENSG00000114742 89 0 0.00 43 17 27.87 - - - ZFPM2 0 genome.wustl.edu 37 8 106431410 106431410 + Missense_Mutation SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 8 106431410 106431410 T A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.79 p.C27S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 117 0 0.00 97 55 36.18 - - - ZFPM2 0 genome.wustl.edu 37 8 106431410 106431410 + Missense_Mutation SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 8 106431410 106431410 T A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.79 p.C27S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 151 0 0.00 97 55 36.18 - - - ZFPM2 0 genome.wustl.edu 37 8 106431410 106431410 + Missense_Mutation SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 8 106431410 106431410 T A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.79 p.C27S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 117 0 0.00 64 46 41.82 - - - ZFPM2 0 genome.wustl.edu 37 8 106431410 106431410 + Missense_Mutation SNP T T A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 8 106431410 106431410 T A SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known missense c.79 p.C27S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 151 0 0.00 64 46 41.82 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015259 43015259 + RNA SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 10 43015259 43015259 G A SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.862 - - - no_errors ZNF37BP HGNC ENSG00000234420 66 0 0.00 102 31 23.31 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015259 43015259 + RNA SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 10 43015259 43015259 G A SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.862 - - - no_errors ZNF37BP HGNC ENSG00000234420 92 0 0.00 102 31 23.31 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015259 43015259 + RNA SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 10 43015259 43015259 G A SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.862 - - - no_errors ZNF37BP HGNC ENSG00000234420 66 0 0.00 65 18 21.69 - - - ZNF37BP 0 genome.wustl.edu 37 10 43015259 43015259 + RNA SNP G G A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 10 43015259 43015259 G A SNP ZNF37BP ENST00000452075 human ensembl 69_37n -1 known rna NULL NULL 0.862 - - - no_errors ZNF37BP HGNC ENSG00000234420 92 0 0.00 65 18 21.69 - - - ZNF415 0 genome.wustl.edu 37 19 53612661 53612661 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 19 53612661 53612661 C A SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known nonsense c.781 p.E261* 0.907 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 129 0 0.00 150 44 22.68 - - - ZNF415 0 genome.wustl.edu 37 19 53612661 53612661 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc b1d4c4f2-a008-4a03-9885-33058dd170e7 19 53612661 53612661 C A SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known nonsense c.781 p.E261* 0.907 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 142 0 0.00 150 44 22.68 - - - ZNF415 0 genome.wustl.edu 37 19 53612661 53612661 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 19 53612661 53612661 C A SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known nonsense c.781 p.E261* 0.907 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 129 0 0.00 109 35 24.31 - - - ZNF415 0 genome.wustl.edu 37 19 53612661 53612661 + Nonsense_Mutation SNP C C A TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-11A-22D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc 05e9d24e-2e5c-47ab-9a0e-9691ab47d808 19 53612661 53612661 C A SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known nonsense c.781 p.E261* 0.907 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 142 0 0.00 109 35 24.31 - - -