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 AARSD1 0 genome.wustl.edu 37 17 41123659 41123659 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 41123659 41123659 C G SNP AARSD1 ENST00000409399 human ensembl 69_37n -1 known missense c.472 p.E158Q 1.000 NULL pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors AARSD1 HGNC ENSG00000108825 119 0 0.00 34 57 62.64 - - - ABCA10 0 genome.wustl.edu 37 17 67148188 67148188 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 67148188 67148188 C G SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.4393 p.E1465Q 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 100 0 0.00 121 82 40.39 - - - ABCA10 0 genome.wustl.edu 37 17 67190127 67190127 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 67190127 67190127 G A SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.1349 p.S450L 0.088 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 62 0 0.00 51 28 35.44 - - - ABCA12 0 genome.wustl.edu 37 2 215846980 215846980 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 215846980 215846980 C T SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known missense c.4510 p.E1504K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 58 0 0.00 23 37 61.67 - - - ABCA13 0 genome.wustl.edu 37 7 48316003 48316003 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 48316003 48316003 C G SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known nonsense c.6740 p.S2247* 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 9 0 0.00 17 7 29.17 - - - ABCA4 0 genome.wustl.edu 37 1 94476927 94476927 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 94476927 94476927 G C SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.5475 p.F1825L 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 21 0 0.00 23 14 37.84 - - - ABCB11 0 genome.wustl.edu 37 2 169780194 169780194 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 169780194 169780194 C A SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known nonsense c.3904 p.E1302* 0.997 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 110 0 0.00 86 58 40.28 - - - ABCB4 0 genome.wustl.edu 37 7 87049354 87049354 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 87049354 87049354 C T SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.2354 p.R785K 0.809 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 52 0 0.00 39 30 43.48 - - - ABCB4 0 genome.wustl.edu 37 7 87069538 87069538 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 87069538 87069538 C G SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known missense c.1537 p.E513Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 78 0 0.00 71 44 38.26 - - - ABCB5 0 genome.wustl.edu 37 7 20685387 20685387 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 20685387 20685387 C T SNP ABCB5 ENST00000404938 human ensembl 69_37n +1 putative silent c.687 p.I229 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 41 0 0.00 42 20 32.26 - - - ABCC1 0 genome.wustl.edu 37 16 16101738 16101738 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 16101738 16101738 C G SNP ABCC1 ENST00000399408 human ensembl 69_37n +1 known silent c.114 p.L38 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 291 0 0.00 191 141 42.47 - - - ABCC8 0 genome.wustl.edu 37 11 17482056 17482056 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 17482056 17482056 C G SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.990 p.E330D 0.977 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 37 0 0.00 10 9 47.37 - - - ABCC9 0 genome.wustl.edu 37 12 22063124 22063124 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 22063124 22063124 G C SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.1287 p.F429L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 39 0 0.00 49 38 43.68 - - - ABHD8 0 genome.wustl.edu 37 19 17403583 17403583 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 17403583 17403583 C T SNP ABHD8 ENST00000247706 human ensembl 69_37n -1 known missense c.1207 p.E403K 1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 17 0 0.00 10 11 52.38 - - - ABTB2 0 genome.wustl.edu 37 11 34186251 34186251 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 34186251 34186251 G C SNP ABTB2 ENST00000435224 human ensembl 69_37n -1 known nonsense c.1970 p.S657* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 88 0 0.00 19 14 41.18 - - - ACCS 0 genome.wustl.edu 37 11 44102734 44102734 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 44102734 44102734 C T SNP ACCS ENST00000263776 human ensembl 69_37n +1 known silent c.975 p.F325 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors ACCS HGNC ENSG00000110455 50 0 0.00 14 14 50.00 - - - ADAM21 0 genome.wustl.edu 37 14 70925639 70925639 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 70925639 70925639 G C SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known missense c.1423 p.E475Q 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 66 0 0.00 35 16 31.37 - - - ADAM28 0 genome.wustl.edu 37 8 24187573 24187573 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 24187573 24187573 G A SNP ADAM28 ENST00000265769 human ensembl 69_37n +1 known missense c.1048 p.D350N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 107 0 0.00 35 35 50.00 - - - ADAM28 0 genome.wustl.edu 37 8 24201083 24201083 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 24201083 24201083 C G SNP ADAM28 ENST00000265769 human ensembl 69_37n +1 known missense c.1976 p.S659C 0.122 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 81 0 0.00 31 20 39.22 - - - ADAMTS14 0 genome.wustl.edu 37 10 72511354 72511354 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 72511354 72511354 G C SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known missense c.2557 p.E853Q 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 40 0 0.00 12 7 36.84 - - - ADAMTS7 0 genome.wustl.edu 37 15 79089018 79089018 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 79089018 79089018 C G SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known missense c.733 p.E245Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 26 0 0.00 25 14 35.90 - - - ADAMTS9 0 genome.wustl.edu 37 3 64589998 64589998 + Missense_Mutation SNP A A T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 64589998 64589998 A T SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.3484 p.L1162I 0.988 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 37 0 0.00 27 37 57.81 - - - ADH6 0 genome.wustl.edu 37 4 100126152 100126152 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 100126152 100126152 G C SNP ADH6 ENST00000394899 human ensembl 69_37n -1 known missense c.1033 p.P345A 0.007 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 111 0 0.00 146 52 26.26 - - - ADI1 0 genome.wustl.edu 37 2 3502845 3502845 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 3502845 3502845 C T SNP ADI1 ENST00000415131 human ensembl 69_37n -1 putative missense c.241 p.E81K 0.991 superfamily_RmlC_Cupin superfamily_RmlC_Cupin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADI1 HGNC ENSG00000182551 20 0 0.00 15 4 21.05 - - - AFF3 0 genome.wustl.edu 37 2 100170782 100170782 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 100170782 100170782 C T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.3625 p.E1209K 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 131 0 0.00 45 22 32.84 - - - AGBL1 0 genome.wustl.edu 37 15 86807754 86807754 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 86807754 86807754 C G SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.1214 p.S405C 0.041 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 35 0 0.00 30 18 37.50 - - - AGT 0 genome.wustl.edu 37 1 230841751 230841751 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 230841751 230841751 G C SNP AGT ENST00000366667 human ensembl 69_37n -1 known missense c.1052 p.S351C 0.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn - no_errors AGT HGNC ENSG00000135744 68 0 0.00 35 17 32.69 - - - AHI1 0 genome.wustl.edu 37 6 135787398 135787398 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 135787398 135787398 C G SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known missense c.303 p.L101F 0.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 246 0 0.00 194 86 30.71 - - - AHNAK2 0 genome.wustl.edu 37 14 105419013 105419013 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 105419013 105419013 C G SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.2775 p.K925N 0.044 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 47 0 0.00 86 64 42.67 - - - AIP 0 genome.wustl.edu 37 11 67250641 67250641 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 67250641 67250641 C T SNP AIP ENST00000279146 human ensembl 69_37n +1 known silent c.12 p.I4 0.997 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC ENSG00000110711 34 0 0.00 28 13 31.71 - - - AK7 0 genome.wustl.edu 37 14 96924456 96924456 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 96924456 96924456 G C SNP AK7 ENST00000267584 human ensembl 69_37n +1 known missense c.1264 p.E422Q 0.948 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC ENSG00000140057 56 0 0.00 24 12 33.33 - - - AKAP13 0 genome.wustl.edu 37 15 86262432 86262432 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 86262432 86262432 G C SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.6139 p.D2047H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 92 0 0.00 89 41 31.54 - - - AKAP6 0 genome.wustl.edu 37 14 33293653 33293653 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 33293653 33293653 G T SNP AKAP6 ENST00000280979 human ensembl 69_37n +1 known missense c.6634 p.A2212S 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 88 0 0.00 57 36 38.71 - - - ALDH3A2 0 genome.wustl.edu 37 17 19555064 19555064 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 19555064 19555064 C T SNP ALDH3A2 ENST00000339618 human ensembl 69_37n +1 known nonsense c.358 p.Q120* 0.994 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 70 0 0.00 74 44 37.29 - - - ALKBH8 0 genome.wustl.edu 37 11 107396319 107396319 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 107396319 107396319 C G SNP ALKBH8 ENST00000417449 human ensembl 69_37n -1 known splice_site c.888-1 e9-1 1.000 - - - no_errors ALKBH8 HGNC ENSG00000137760 47 0 0.00 13 15 53.57 - - - ALMS1 0 genome.wustl.edu 37 2 73784481 73784481 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 73784481 73784481 G A SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.10210 p.D3404N 0.995 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 52 0 0.00 25 16 39.02 - - - ALOX12 0 genome.wustl.edu 37 17 6905055 6905055 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 6905055 6905055 G A SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known silent c.1086 p.L362 0.995 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 94 0 0.00 17 24 58.54 - - - ALOX12 0 genome.wustl.edu 37 17 6913414 6913414 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 6913414 6913414 C G SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known nonsense c.1781 p.S594* 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 58 0 0.00 5 18 78.26 - - - ALPK2 0 genome.wustl.edu 37 18 56202122 56202122 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 56202122 56202122 G C SNP ALPK2 ENST00000361673 human ensembl 69_37n -1 known nonsense c.5297 p.S1766* 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC ENSG00000198796 136 0 0.00 39 87 69.05 - - - ALS2 0 genome.wustl.edu 37 2 202625594 202625594 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 202625594 202625594 G C SNP ALS2 ENST00000467448 human ensembl 69_37n -1 known missense c.1123 p.Q375E 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 56 0 0.00 50 25 33.33 - - - AMBRA1 0 genome.wustl.edu 37 11 46564007 46564007 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 46564007 46564007 C G SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known silent c.1560 p.L520 0.936 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 35 0 0.00 18 14 43.75 - - - AMIGO3 0 genome.wustl.edu 37 3 49756337 49756337 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49756337 49756337 G C SNP AMIGO3 ENST00000320431 human ensembl 69_37n -1 known missense c.562 p.L188V 0.993 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AMIGO3 HGNC ENSG00000176020 20 0 0.00 16 13 44.83 - - - AMOTL1 0 genome.wustl.edu 37 11 94563282 94563282 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 94563282 94563282 G C SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known missense c.1480 p.E494Q 1.000 prints_Angiomotin pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 30 0 0.00 25 23 47.92 - - - ANGPT4 0 genome.wustl.edu 37 20 870985 870985 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 870985 870985 C G SNP ANGPT4 ENST00000381922 human ensembl 69_37n -1 known missense c.336 p.L112F 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT4 HGNC ENSG00000101280 174 0 0.00 20 10 33.33 - - - ANK2 0 genome.wustl.edu 37 4 114158757 114158757 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 114158757 114158757 G C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.672 p.M224I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 97 0 0.00 134 103 43.46 - - - ANK2 0 genome.wustl.edu 37 4 114274431 114274431 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 114274431 114274431 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known missense c.4657 p.E1553K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 35 0 0.00 24 7 22.58 - - - ANK3 0 genome.wustl.edu 37 10 61833092 61833092 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 61833092 61833092 G C SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.7547 p.S2516C 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 38 0 0.00 47 22 31.88 - - - ANK3 0 genome.wustl.edu 37 10 62029921 62029921 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 62029921 62029921 C G SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.481 p.D161H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 61 0 0.00 35 26 40.62 - - - ANKHD1 0 genome.wustl.edu 37 5 139907821 139907821 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 139907821 139907821 C G SNP ANKHD1 ENST00000435794 human ensembl 69_37n +1 novel nonsense c.761 p.S254* 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKHD1 HGNC ENSG00000131503 39 0 0.00 41 28 40.58 - - - ANKIB1 0 genome.wustl.edu 37 7 92017328 92017328 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 92017328 92017328 G C SNP ANKIB1 ENST00000265742 human ensembl 69_37n +1 known missense c.1879 p.E627Q 1.000 smart_Znf_RING pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 72 0 0.00 45 37 45.12 - - - ANKMY1 0 genome.wustl.edu 37 2 241465200 241465200 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 241465200 241465200 C T SNP ANKMY1 ENST00000272972 human ensembl 69_37n -1 known missense c.970 p.D324N 0.465 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 37 0 0.00 20 24 53.33 - - - ANKRD19P 0 genome.wustl.edu 37 9 95575920 95575920 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 95575920 95575920 G A SNP ANKRD19P ENST00000460854 human ensembl 69_37n +1 known rna NULL NULL 0.902 - - - no_errors ANKRD19P HGNC ENSG00000187984 82 0 0.00 109 61 35.67 - - - ANKRD27 0 genome.wustl.edu 37 19 33117720 33117720 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 33117720 33117720 G C SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known silent c.1434 p.L478 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 55 0 0.00 22 24 52.17 - - - ANKRD36 0 genome.wustl.edu 37 2 97911366 97911366 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 97911366 97911366 C G SNP ANKRD36 ENST00000420699 human ensembl 69_37n +1 known missense c.5042 p.S1681C 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 32 0 0.00 29 14 32.56 - - - ANKRD36BP2 0 genome.wustl.edu 37 2 89086148 89086148 + RNA SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 89086148 89086148 C G SNP ANKRD36BP2 ENST00000393515 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 193 0 0.00 169 98 36.57 - - - ANKRD6 0 genome.wustl.edu 37 6 90276727 90276727 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 90276727 90276727 C T SNP ANKRD6 ENST00000339746 human ensembl 69_37n +1 known missense c.32 p.S11L 1.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 169 0 0.00 40 21 33.87 - - - ANKRD6 0 genome.wustl.edu 37 6 90331670 90331670 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 90331670 90331670 G C SNP ANKRD6 ENST00000339746 human ensembl 69_37n +1 known silent c.822 p.L274 1.000 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 ANKRD6 HGNC ENSG00000135299 34 0 0.00 20 8 28.57 - - - ANO1 0 genome.wustl.edu 37 11 70007759 70007759 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 70007759 70007759 G C SNP ANO1 ENST00000355303 human ensembl 69_37n +1 known missense c.1812 p.E604D 0.954 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 77 0 0.00 92 60 39.22 - - - ANO6 0 genome.wustl.edu 37 12 45740823 45740823 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 45740823 45740823 G A SNP ANO6 ENST00000425752 human ensembl 69_37n +1 known missense c.298 p.E100K 0.998 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 86 0 0.00 70 33 32.04 - - - ANXA4 0 genome.wustl.edu 37 2 70047897 70047897 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 70047897 70047897 G A SNP ANXA4 ENST00000394295 human ensembl 69_37n +1 known missense c.850 p.D284N 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 76 0 0.00 47 30 38.96 - - - APBA1 0 genome.wustl.edu 37 9 72082803 72082803 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 72082803 72082803 G C SNP APBA1 ENST00000265381 human ensembl 69_37n -1 known nonsense c.1418 p.S473* 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA1 HGNC ENSG00000107282 57 0 0.00 40 26 39.39 - - - APCDD1 0 genome.wustl.edu 37 18 10471549 10471549 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 10471549 10471549 G C SNP APCDD1 ENST00000355285 human ensembl 69_37n +1 known missense c.265 p.E89Q 1.000 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 38 0 0.00 21 29 58.00 - - - APLP2 0 genome.wustl.edu 37 11 129993576 129993576 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 129993576 129993576 C G SNP APLP2 ENST00000263574 human ensembl 69_37n +1 known missense c.992 p.S331C 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 74 0 0.00 63 10 13.70 - - - ARAP2 0 genome.wustl.edu 37 4 36069774 36069774 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 36069774 36069774 G A SNP ARAP2 ENST00000303965 human ensembl 69_37n -1 known nonsense c.4870 p.R1624* 0.990 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 100 0 0.00 19 39 67.24 - - - ARAP3 0 genome.wustl.edu 37 5 141049551 141049551 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 141049551 141049551 G C SNP ARAP3 ENST00000239440 human ensembl 69_37n -1 known silent c.2187 p.L729 0.991 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 126 0 0.00 47 21 30.88 - - - ARHGAP10 0 genome.wustl.edu 37 4 148796228 148796228 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 148796228 148796228 C G SNP ARHGAP10 ENST00000336498 human ensembl 69_37n +1 known missense c.759 p.I253M 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 128 0 0.00 24 35 59.32 - - - ARHGAP24 0 genome.wustl.edu 37 4 86921698 86921698 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 86921698 86921698 G C SNP ARHGAP24 ENST00000395184 human ensembl 69_37n +1 known missense c.2070 p.E690D 0.992 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 55 0 0.00 45 70 60.87 - - - ARHGAP29 0 genome.wustl.edu 37 1 94639529 94639529 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 94639529 94639529 C G SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.3682 p.E1228Q 0.751 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 55 0 0.00 37 22 37.29 - - - ARHGAP31 0 genome.wustl.edu 37 3 119120914 119120914 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 119120914 119120914 G C SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known missense c.1315 p.E439Q 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 45 0 0.00 21 14 40.00 - - - ARHGEF11 0 genome.wustl.edu 37 1 156933335 156933335 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 156933335 156933335 C G SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known missense c.1015 p.D339H 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 107 0 0.00 86 54 38.57 - - - ARHGEF18 0 genome.wustl.edu 37 19 7529468 7529468 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 7529468 7529468 C G SNP ARHGEF18 ENST00000359920 human ensembl 69_37n +1 known silent c.2232 p.V744 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 23 0 0.00 29 17 36.96 - - - ARHGEF9 0 genome.wustl.edu 37 X 62974390 62974390 + RNA SNP A A G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 62974390 62974390 A G SNP ARHGEF9 ENST00000495564 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ARHGEF9 HGNC ENSG00000131089 12 0 0.00 15 6 28.57 - - - ARID1B 0 genome.wustl.edu 37 6 157099283 157099283 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 157099283 157099283 G A SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.220 p.E74K 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 18 0 0.00 14 8 36.36 - - - ARL3 0 genome.wustl.edu 37 10 104445662 104445662 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 104445662 104445662 C G SNP ARL3 ENST00000260746 human ensembl 69_37n -1 known missense c.412 p.E138Q 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,pfam_ATPase_AAA_core,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom - no_errors ARL3 HGNC ENSG00000138175 61 0 0.00 38 31 44.93 - - - ARMC4 0 genome.wustl.edu 37 10 28196616 28196616 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 28196616 28196616 G A SNP ARMC4 ENST00000305242 human ensembl 69_37n -1 known silent c.2586 p.L862 0.175 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 100 0 0.00 46 39 45.88 - - - ARSE 0 genome.wustl.edu 37 X 2861117 2861117 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 2861117 2861117 C G SNP ARSE ENST00000545496 human ensembl 69_37n -1 known missense c.1190 p.G397A 0.990 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 82 0 0.00 46 46 50.00 - - - ASAP1 0 genome.wustl.edu 37 8 131130824 131130824 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 131130824 131130824 C T SNP ASAP1 ENST00000357668 human ensembl 69_37n -1 known missense c.1705 p.E569K 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP - no_errors ASAP1 HGNC ENSG00000153317 67 0 0.00 54 27 33.33 - - - ASH1L 0 genome.wustl.edu 37 1 155317560 155317560 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 155317560 155317560 C G SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known missense c.7705 p.E2569Q 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 211 0 0.00 191 70 26.72 - - - ASNS 0 genome.wustl.edu 37 7 97488553 97488553 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 97488553 97488553 G C SNP ASNS ENST00000175506 human ensembl 69_37n -1 known silent c.645 p.L215 0.999 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 47 0 0.00 71 42 37.17 - - - ASPM 0 genome.wustl.edu 37 1 197069573 197069573 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 197069573 197069573 G A SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.8808 p.T2936 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 17 0 0.00 29 13 30.95 - - - ASPM 0 genome.wustl.edu 37 1 197070908 197070908 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 197070908 197070908 G C SNP ASPM ENST00000367409 human ensembl 69_37n -1 known missense c.7473 p.F2491L 0.993 superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 22 0 0.00 80 27 25.00 - - - ASTN1 0 genome.wustl.edu 37 1 176863769 176863769 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 176863769 176863769 C T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.2893 p.E965K 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 79 0 0.00 44 15 25.42 - - - ATOH7 0 genome.wustl.edu 37 10 69991102 69991102 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 69991102 69991102 G C SNP ATOH7 ENST00000373673 human ensembl 69_37n -1 known silent c.333 p.L111 0.367 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors ATOH7 HGNC ENSG00000179774 20 0 0.00 7 6 46.15 - - - ATP10A 0 genome.wustl.edu 37 15 25966966 25966966 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 25966966 25966966 C T SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.1201 p.E401K 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 63 0 0.00 37 30 44.12 - - - ATP2A3 0 genome.wustl.edu 37 17 3838501 3838501 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 3838501 3838501 G C SNP ATP2A3 ENST00000359983 human ensembl 69_37n -1 known missense c.2595 p.I865M 1.000 pfam_ATPase_P-typ_cation-transptr_C 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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A3 HGNC ENSG00000074370 25 0 0.00 4 17 80.95 - - - ATP2C1 0 genome.wustl.edu 37 3 130686192 130686192 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 130686192 130686192 G C SNP ATP2C1 ENST00000393221 human ensembl 69_37n +1 known missense c.1339 p.D447H 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2C1 HGNC ENSG00000017260 138 0 0.00 87 69 44.23 - - - ATRX 0 genome.wustl.edu 37 X 76972617 76972617 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 76972617 76972617 G C SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.124 p.Q42E 0.994 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 174 0 0.00 81 59 42.14 - - - AVEN 0 genome.wustl.edu 37 15 34295365 34295365 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 34295365 34295365 C T SNP AVEN ENST00000306730 human ensembl 69_37n -1 known missense c.313 p.E105K 0.928 NULL NULL - no_errors AVEN HGNC ENSG00000169857 63 0 0.00 81 50 38.17 - - - B3GALNT1 0 genome.wustl.edu 37 3 160804565 160804565 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 160804565 160804565 G A SNP B3GALNT1 ENST00000460353 human ensembl 69_37n -1 putative missense c.338 p.S113L 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region B3GALNT1 HGNC ENSG00000169255 10 0 0.00 6 10 62.50 - - - B3GNT7 0 genome.wustl.edu 37 2 232263034 232263034 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 232263034 232263034 G A SNP B3GNT7 ENST00000287590 human ensembl 69_37n +1 known missense c.604 p.D202N 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 9 0 0.00 5 12 70.59 - - - BAAT 0 genome.wustl.edu 37 9 104130594 104130594 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 104130594 104130594 G A SNP BAAT ENST00000259407 human ensembl 69_37n -1 known silent c.477 p.L159 0.008 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 57 0 0.00 31 31 50.00 - - - BAZ1A 0 genome.wustl.edu 37 14 35262107 35262107 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 35262107 35262107 C G SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.1384 p.V462L 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 65 0 0.00 61 43 41.35 - - - BAZ1A 0 genome.wustl.edu 37 14 35264070 35264070 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 35264070 35264070 C T SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known silent c.1248 p.V416 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 29 0 0.00 28 18 39.13 - - - BBS9 0 genome.wustl.edu 37 7 33296943 33296943 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 33296943 33296943 C G SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known missense c.538 p.L180V 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 154 0 0.00 101 75 42.61 - - - BPTF 0 genome.wustl.edu 37 17 65908442 65908442 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 65908442 65908442 C G SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.4820 p.S1607C 0.003 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 14 0 0.00 23 15 39.47 - - - BRI3 0 genome.wustl.edu 37 7 97920524 97920524 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 97920524 97920524 G A SNP BRI3 ENST00000297290 human ensembl 69_37n +1 known missense c.347 p.R116Q 1.000 pfam_Brain_I3 pfam_Brain_I3 - no_errors BRI3 HGNC ENSG00000164713 86 0 0.00 59 31 34.44 - - - BRIP1 0 genome.wustl.edu 37 17 59926597 59926597 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 59926597 59926597 G C SNP BRIP1 ENST00000259008 human ensembl 69_37n -1 known missense c.400 p.L134V 0.806 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 110 0 0.00 60 41 40.59 - - - BTK 0 genome.wustl.edu 37 X 100609675 100609675 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 100609675 100609675 C G SNP BTK ENST00000308731 human ensembl 69_37n -1 known missense c.1574 p.R525P 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 48 0 0.00 50 38 43.18 - - - BTN3A3 0 genome.wustl.edu 37 6 26444478 26444478 + Missense_Mutation SNP T T C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 26444478 26444478 T C SNP BTN3A3 ENST00000244519 human ensembl 69_37n +1 known missense c.379 p.Y127H 0.003 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 120 0 0.00 89 49 35.51 - - - BUB1B 0 genome.wustl.edu 37 15 40494852 40494852 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 40494852 40494852 C G SNP BUB1B ENST00000412359 human ensembl 69_37n +1 known nonsense c.1733 p.S578* 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 58 0 0.00 58 32 35.56 - - - BYSL 0 genome.wustl.edu 37 6 41895231 41895231 + Nonsense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 41895231 41895231 G T SNP BYSL ENST00000230340 human ensembl 69_37n +1 known nonsense c.388 p.E130* 1.000 NULL pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 59 0 0.00 27 23 46.00 - - - C10orf11 0 genome.wustl.edu 37 10 77807039 77807039 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 77807039 77807039 G C SNP C10orf11 ENST00000354343 human ensembl 69_37n +1 known missense c.376 p.E126Q 1.000 NULL NULL - no_errors C10orf11 HGNC ENSG00000148655 39 0 0.00 30 19 38.78 - - - C10orf12 0 genome.wustl.edu 37 10 98744424 98744424 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 98744424 98744424 G A SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.3277 p.E1093K 0.969 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 45 0 0.00 24 17 41.46 - - - C10orf120 0 genome.wustl.edu 37 10 124459159 124459159 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 124459159 124459159 C G SNP C10orf120 ENST00000329446 human ensembl 69_37n -1 known missense c.148 p.E50Q 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 104 0 0.00 34 45 56.96 - - - C11orf49 0 genome.wustl.edu 37 11 47183172 47183172 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 47183172 47183172 G A SNP C11orf49 ENST00000378615 human ensembl 69_37n +1 known missense c.997 p.D333N 0.997 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 16 0 0.00 4 5 55.56 - - - C11orf80 0 genome.wustl.edu 37 11 66605863 66605863 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 66605863 66605863 C G SNP C11orf80 ENST00000360962 human ensembl 69_37n +1 known nonsense c.1694 p.S565* 0.003 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 70 0 0.00 57 29 33.72 - - - C12orf45 0 genome.wustl.edu 37 12 105380159 105380159 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 105380159 105380159 G A SNP C12orf45 ENST00000552951 human ensembl 69_37n +1 known missense c.29 p.S10N 0.000 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 10 0 0.00 10 7 41.18 - - - C14orf102 0 genome.wustl.edu 37 14 90759091 90759091 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 90759091 90759091 C G SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.1792 p.D598H 1.000 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 29 0 0.00 50 33 39.76 - - - C14orf169 0 genome.wustl.edu 37 14 73958722 73958722 + RNA SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 73958722 73958722 C G SNP C14orf169 ENST00000531973 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors C14orf169 HGNC ENSG00000255242 25 0 0.00 13 9 40.91 - - - C16orf91 0 genome.wustl.edu 37 16 1476224 1476224 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 1476224 1476224 C G SNP C16orf91 ENST00000310355 human ensembl 69_37n -1 known missense c.399 p.R133S 0.002 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 28 0 0.00 34 19 35.85 - - - C1orf168 0 genome.wustl.edu 37 1 57209850 57209850 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 57209850 57209850 C G SNP C1orf168 ENST00000343433 human ensembl 69_37n -1 known missense c.1477 p.D493H 1.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 160 0 0.00 77 42 35.29 - - - C1orf177 0 genome.wustl.edu 37 1 55279532 55279532 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 55279532 55279532 G C SNP C1orf177 ENST00000371273 human ensembl 69_37n +1 known missense c.808 p.E270Q 0.288 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 83 0 0.00 50 46 47.92 - - - C2orf61 0 genome.wustl.edu 37 2 47380124 47380124 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 47380124 47380124 C G SNP C2orf61 ENST00000445927 human ensembl 69_37n -1 known missense c.113 p.R38T 1.000 NULL NULL - no_errors C2orf61 HGNC ENSG00000239605 141 0 0.00 71 60 45.80 - - - C2orf78 0 genome.wustl.edu 37 2 74043308 74043308 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 74043308 74043308 C G SNP C2orf78 ENST00000409561 human ensembl 69_37n +1 novel missense c.1958 p.S653C 0.401 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 28 0 0.00 16 12 42.86 - - - C3orf20 0 genome.wustl.edu 37 3 14769960 14769960 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 14769960 14769960 G A SNP C3orf20 ENST00000253697 human ensembl 69_37n +1 known missense c.1705 p.E569K 0.006 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 44 0 0.00 36 27 42.86 - - - C3orf37 0 genome.wustl.edu 37 3 129007712 129007712 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 129007712 129007712 G C SNP C3orf37 ENST00000383463 human ensembl 69_37n +1 known missense c.199 p.E67Q 1.000 pfam_DUF159 pfam_DUF159 - no_errors C3orf37 HGNC ENSG00000183624 39 0 0.00 34 28 45.16 - - - C4orf17 0 genome.wustl.edu 37 4 100434338 100434338 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 100434338 100434338 C G SNP C4orf17 ENST00000326581 human ensembl 69_37n +1 known missense c.100 p.H34D 1.000 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 47 0 0.00 16 31 65.96 - - - C6orf170 0 genome.wustl.edu 37 6 121544395 121544395 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 121544395 121544395 G A SNP C6orf170 ENST00000275159 human ensembl 69_37n -1 putative missense c.2468 p.P823L 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors C6orf170 HGNC ENSG00000146350 57 0 0.00 45 34 43.04 - - - C9orf174 0 genome.wustl.edu 37 9 100070076 100070076 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 100070076 100070076 G C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.39 p.Q13H 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 60 0 0.00 23 12 34.29 - - - CA11 0 genome.wustl.edu 37 19 49142595 49142595 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 49142595 49142595 G C SNP CA11 ENST00000084798 human ensembl 69_37n -1 known silent c.762 p.L254 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 59 0 0.00 20 11 35.48 - - - CA11 0 genome.wustl.edu 37 19 49143464 49143464 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 49143464 49143464 G C SNP CA11 ENST00000084798 human ensembl 69_37n -1 known missense c.359 p.S120C 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 59 0 0.00 15 5 25.00 - - - CADM2 0 genome.wustl.edu 37 3 86010687 86010687 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 86010687 86010687 G C SNP CADM2 ENST00000405615 human ensembl 69_37n +1 known missense c.839 p.G280A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 58 0 0.00 39 23 37.10 - - - CAP2 0 genome.wustl.edu 37 6 17463284 17463284 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 17463284 17463284 C G SNP CAP2 ENST00000229922 human ensembl 69_37n +1 known missense c.280 p.Q94E 1.000 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 66 0 0.00 40 28 41.18 - - - CAPN11 0 genome.wustl.edu 37 6 44144023 44144023 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 44144023 44144023 C G SNP CAPN11 ENST00000398776 human ensembl 69_37n +1 known missense c.949 p.R317G 0.996 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 137 0 0.00 36 19 34.55 - - - CARD11 0 genome.wustl.edu 37 7 2954874 2954874 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 2954874 2954874 C A SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known nonsense c.2836 p.E946* 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 40 0 0.00 17 9 34.62 - - - CARS2 0 genome.wustl.edu 37 13 111298422 111298422 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 111298422 111298422 C G SNP CARS2 ENST00000257347 human ensembl 69_37n -1 known missense c.1209 p.K403N 0.020 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-synt pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS2 HGNC ENSG00000134905 41 0 0.00 4 12 75.00 - - - CASP5 0 genome.wustl.edu 37 11 104877890 104877890 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 104877890 104877890 G C SNP CASP5 ENST00000393141 human ensembl 69_37n -1 known missense c.392 p.S131C 0.000 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC ENSG00000137757 155 0 0.00 100 83 45.11 - - - CASP7 0 genome.wustl.edu 37 10 115489239 115489239 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 115489239 115489239 G C SNP CASP7 ENST00000369321 human ensembl 69_37n +1 known missense c.951 p.E317D 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP7 HGNC ENSG00000165806 41 0 0.00 29 15 34.09 - - - CC2D1B 0 genome.wustl.edu 37 1 52827250 52827250 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 52827250 52827250 C G SNP CC2D1B ENST00000371586 human ensembl 69_37n -1 known missense c.253 p.D85H 0.956 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 12 0 0.00 11 8 42.11 - - - CCDC11 0 genome.wustl.edu 37 18 47769351 47769351 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 47769351 47769351 C G SNP CCDC11 ENST00000398545 human ensembl 69_37n -1 known missense c.1132 p.E378Q 0.013 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 77 0 0.00 46 71 60.68 - - - CCDC14 0 genome.wustl.edu 37 3 123634236 123634236 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 123634236 123634236 G A SNP CCDC14 ENST00000488653 human ensembl 69_37n -1 known missense c.2252 p.S751F 0.015 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 78 0 0.00 60 40 40.00 - - - CCDC146 0 genome.wustl.edu 37 7 76891515 76891515 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 76891515 76891515 G A SNP CCDC146 ENST00000285871 human ensembl 69_37n +1 known missense c.1064 p.R355K 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 58 0 0.00 29 20 40.82 - - - CCDC34 0 genome.wustl.edu 37 11 27363058 27363058 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 27363058 27363058 C G SNP CCDC34 ENST00000328697 human ensembl 69_37n -1 known missense c.646 p.E216Q 0.998 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 184 0 0.00 209 119 36.28 - - - CCDC39 0 genome.wustl.edu 37 3 180372690 180372690 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 180372690 180372690 C T SNP CCDC39 ENST00000442201 human ensembl 69_37n -1 known missense c.790 p.E264K 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 190 0 0.00 225 121 34.97 - - - CCDC62 0 genome.wustl.edu 37 12 123285986 123285986 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 123285986 123285986 C T SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known silent c.1293 p.H431 0.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 57 0 0.00 38 29 42.65 - - - CCND3 0 genome.wustl.edu 37 6 41903792 41903792 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 41903792 41903792 G A SNP CCND3 ENST00000510503 human ensembl 69_37n -1 putative nonsense c.385 p.Q129* 0.996 NULL pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CCND3 HGNC ENSG00000112576 64 0 0.00 14 9 39.13 - - - CD22 0 genome.wustl.edu 37 19 35826997 35826997 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 35826997 35826997 C T SNP CD22 ENST00000085219 human ensembl 69_37n +1 known silent c.471 p.V157 0.101 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 72 0 0.00 23 9 28.12 - - - CD40 0 genome.wustl.edu 37 20 44751308 44751308 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 44751308 44751308 G A SNP CD40 ENST00000372285 human ensembl 69_37n +1 known missense c.316 p.E106K 0.000 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 231 0 0.00 51 25 32.47 - - - CDCP1 0 genome.wustl.edu 37 3 45127237 45127237 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 45127237 45127237 C G SNP CDCP1 ENST00000296129 human ensembl 69_37n -1 known missense c.2404 p.E802Q 0.188 NULL superfamily_CUB - no_errors CDCP1 HGNC ENSG00000163814 164 0 0.00 60 25 29.41 - - - CDH12 0 genome.wustl.edu 37 5 21752076 21752076 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 21752076 21752076 G A SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known nonsense c.2155 p.Q719* 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 272 0 0.00 190 127 39.94 - - - CDK10 0 genome.wustl.edu 37 16 89757939 89757939 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 89757939 89757939 G A SNP CDK10 ENST00000353379 human ensembl 69_37n +1 known silent c.321 p.G107 0.977 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_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 CDK10 HGNC ENSG00000185324 36 0 0.00 20 9 31.03 - - - CDK5 0 genome.wustl.edu 37 7 150753678 150753678 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 150753678 150753678 C G SNP CDK5 ENST00000485972 human ensembl 69_37n -1 known missense c.301 p.E101Q 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_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CDK5 HGNC ENSG00000164885 37 0 0.00 15 40 72.73 - - - CDK7 0 genome.wustl.edu 37 5 68568719 68568719 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 68568719 68568719 G C SNP CDK7 ENST00000256443 human ensembl 69_37n +1 known missense c.715 p.D239H 1.000 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_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK7 HGNC ENSG00000134058 64 0 0.00 21 21 50.00 - - - CDKL4 0 genome.wustl.edu 37 2 39456559 39456559 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 39456559 39456559 C G SNP CDKL4 ENST00000378803 human ensembl 69_37n -1 known missense c.115 p.E39Q 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_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 CDKL4 HGNC ENSG00000205111 94 0 0.00 121 71 36.98 - - - CELSR2 0 genome.wustl.edu 37 1 109795443 109795443 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 109795443 109795443 G C SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known silent c.2742 p.V914 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 16 0 0.00 25 16 39.02 - - - CELSR2 0 genome.wustl.edu 37 1 109806318 109806318 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 109806318 109806318 C G SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known silent c.4920 p.L1640 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 32 0 0.00 10 13 56.52 - - - CENPF 0 genome.wustl.edu 37 1 214815502 214815502 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 214815502 214815502 C T SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.3821 p.S1274L 0.083 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 20 0 0.00 28 14 32.56 - - - CENPL 0 genome.wustl.edu 37 1 173780430 173780430 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 173780430 173780430 G A SNP CENPL ENST00000356198 human ensembl 69_37n -1 known missense c.8 p.S3F 0.052 NULL NULL - no_errors CENPL HGNC ENSG00000120334 108 0 0.00 88 25 22.12 - - - CEP350 0 genome.wustl.edu 37 1 179989446 179989446 + Nonsense_Mutation SNP T T G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 179989446 179989446 T G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known nonsense c.2537 p.L846* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 36 0 0.00 41 19 31.67 - - - CEP350 0 genome.wustl.edu 37 1 180062885 180062885 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 180062885 180062885 G C SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.7645 p.E2549Q 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 49 0 0.00 66 27 29.03 - - - CETN3 0 genome.wustl.edu 37 5 89705477 89705479 + Frame_Shift_Del DEL ATT ATT - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 ATT ATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 89705477 89705479 ATT - DEL CETN3 ENST00000283122 human ensembl 69_37n -1 known frame_shift_del c.2_1 p.M1fs 1.000:1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CETN3 HGNC ENSG00000153140 34 0 0.00 22 10 30.30 - - - CHAF1A 0 genome.wustl.edu 37 19 4409318 4409318 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 4409318 4409318 G A SNP CHAF1A ENST00000301280 human ensembl 69_37n +1 known silent c.522 p.E174 0.939 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC ENSG00000167670 69 0 0.00 48 30 38.46 - - - CHD9 0 genome.wustl.edu 37 16 53288467 53288467 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 53288467 53288467 G C SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.3979 p.D1327H 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD9 HGNC ENSG00000177200 67 0 0.00 63 43 39.81 - - - CHP1 0 genome.wustl.edu 37 15 41571018 41571018 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 41571018 41571018 C T SNP CHP1 ENST00000334660 human ensembl 69_37n +1 known silent c.465 p.I155 0.958 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP1 HGNC ENSG00000187446 157 0 0.00 77 60 43.80 - - - CHST4 0 genome.wustl.edu 37 16 71571614 71571614 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 71571614 71571614 G A SNP CHST4 ENST00000338482 human ensembl 69_37n +1 known missense c.1034 p.R345Q 0.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 36 0 0.00 14 9 39.13 - - - CHUK 0 genome.wustl.edu 37 10 101967035 101967035 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 101967035 101967035 C T SNP CHUK ENST00000370397 human ensembl 69_37n -1 known missense c.1183 p.E395K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,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 CHUK HGNC ENSG00000213341 34 0 0.00 46 33 41.25 - - - CKAP5 0 genome.wustl.edu 37 11 46842741 46842741 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 46842741 46842741 C G SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.42 p.Q14H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 91 0 0.00 115 52 31.14 - - - CLCNKB 0 genome.wustl.edu 37 1 16370994 16370994 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 16370994 16370994 G C SNP CLCNKB ENST00000375679 human ensembl 69_37n +1 known missense c.7 p.E3Q 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 40 0 0.00 11 15 57.69 - - - CLEC4M 0 genome.wustl.edu 37 19 7833782 7833782 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 7833782 7833782 G C SNP CLEC4M ENST00000327325 human ensembl 69_37n +1 known missense c.1108 p.E370Q 0.004 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 115 0 0.00 43 46 51.69 - - - CLSTN1 0 genome.wustl.edu 37 1 9790616 9790616 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 9790616 9790616 C T SNP CLSTN1 ENST00000377298 human ensembl 69_37n -1 known missense c.2896 p.A966T 0.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 36 0 0.00 14 14 48.28 - - - CLUAP1 0 genome.wustl.edu 37 16 3586146 3586146 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 3586146 3586146 G T SNP CLUAP1 ENST00000576634 human ensembl 69_37n +1 known missense c.1117 p.D373Y 1.000 NULL pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 79 0 0.00 70 43 38.05 - - - CMAS 0 genome.wustl.edu 37 12 22213810 22213810 + Silent SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 22213810 22213810 G T SNP CMAS ENST00000229329 human ensembl 69_37n +1 known silent c.738 p.V246 1.000 pfam_Cytidylyl_trans pfam_Cytidylyl_trans,superfamily_HAD-like_dom - no_errors CMAS HGNC ENSG00000111726 31 0 0.00 43 27 38.57 - - - CNOT1 0 genome.wustl.edu 37 16 58573836 58573836 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 58573836 58573836 G A SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known nonsense c.4828 p.Q1610* 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 42 0 0.00 39 31 44.29 - - - CNRIP1 0 genome.wustl.edu 37 2 68511565 68511565 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 68511565 68511565 C G SNP CNRIP1 ENST00000409559 human ensembl 69_37n -1 known missense c.382 p.E128Q 0.001 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 47 0 0.00 35 36 50.70 - - - CNTFR 0 genome.wustl.edu 37 9 34557648 34557648 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 34557648 34557648 G C SNP CNTFR ENST00000351266 human ensembl 69_37n -1 known silent c.480 p.L160 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTFR HGNC ENSG00000122756 113 0 0.00 18 32 64.00 - - - CNTN1 0 genome.wustl.edu 37 12 41419117 41419117 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 41419117 41419117 G C SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.2689 p.E897Q 0.957 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 33 0 0.00 13 17 56.67 - - - CNTN4 0 genome.wustl.edu 37 3 3085365 3085365 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 3085365 3085365 G C SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known missense c.2788 p.E930Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 34 0 0.00 64 30 31.91 - - - CNTNAP5 0 genome.wustl.edu 37 2 125521645 125521645 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 125521645 125521645 C G SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.2451 p.F817L 1.000 superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 146 0 0.00 114 51 30.91 - - - COG8 0 genome.wustl.edu 37 16 69369072 69369072 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 69369072 69369072 G C SNP COG8 ENST00000306875 human ensembl 69_37n -1 known silent c.765 p.L255 1.000 pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8 pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8 - no_errors COG8 HGNC ENSG00000213380 29 0 0.00 26 14 35.00 - - - COL11A1 0 genome.wustl.edu 37 1 103343701 103343701 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 103343701 103343701 C G SNP COL11A1 ENST00000358392 human ensembl 69_37n -1 known missense c.5331 p.K1777N 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 54 0 0.00 53 16 23.19 - - - COL13A1 0 genome.wustl.edu 37 10 71562459 71562459 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 71562459 71562459 C G SNP COL13A1 ENST00000356340 human ensembl 69_37n +1 known missense c.280 p.Q94E 1.000 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 18 0 0.00 24 14 36.84 - - - COL13A1 0 genome.wustl.edu 37 10 71705450 71705450 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 71705450 71705450 G A SNP COL13A1 ENST00000356340 human ensembl 69_37n +1 known missense c.1959 p.M653I 0.992 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 48 0 0.00 33 17 34.00 - - - COL22A1 0 genome.wustl.edu 37 8 139614391 139614391 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 139614391 139614391 C G SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known silent c.4152 p.G1384 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 109 0 0.00 40 26 39.39 - - - COL5A1 0 genome.wustl.edu 37 9 137702139 137702139 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 137702139 137702139 G C SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known silent c.3513 p.G1171 0.259 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 9 0 0.00 20 12 37.50 - - - COL5A2 0 genome.wustl.edu 37 2 189910542 189910542 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 189910542 189910542 C G SNP COL5A2 ENST00000374866 human ensembl 69_37n -1 known missense c.3293 p.G1098A 1.000 NULL 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 COL5A2 HGNC ENSG00000204262 64 0 0.00 32 11 25.58 - - - COL6A2 0 genome.wustl.edu 37 21 47546424 47546424 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 47546424 47546424 G C SNP COL6A2 ENST00000300527 human ensembl 69_37n +1 known missense c.2430 p.Q810H 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 16 0 0.00 5 21 80.77 - - - COL6A3 0 genome.wustl.edu 37 2 238285970 238285970 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 238285970 238285970 G A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known silent c.2515 p.L839 0.981 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 55 0 0.00 8 12 60.00 - - - COL6A5 0 genome.wustl.edu 37 3 130095171 130095171 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 130095171 130095171 C G SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.159 p.I53M 0.128 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 77 0 0.00 83 34 29.06 - - - COMMD4 0 genome.wustl.edu 37 15 75631366 75631366 + Missense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 75631366 75631366 C A SNP COMMD4 ENST00000267935 human ensembl 69_37n +1 known missense c.222 p.F74L 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD4 HGNC ENSG00000140365 73 0 0.00 19 11 36.67 - - - COQ9 0 genome.wustl.edu 37 16 57490419 57490419 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 57490419 57490419 C T SNP COQ9 ENST00000262507 human ensembl 69_37n +1 known silent c.382 p.L128 1.000 superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 162 0 0.00 73 34 31.78 - - - COX15 0 genome.wustl.edu 37 10 101483766 101483766 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 101483766 101483766 G A SNP COX15 ENST00000016171 human ensembl 69_37n -1 known missense c.697 p.L233F 1.000 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like - no_errors COX15 HGNC ENSG00000014919 71 0 0.00 56 22 28.21 - - - CPEB1 0 genome.wustl.edu 37 15 83218294 83218294 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 83218294 83218294 C G SNP CPEB1 ENST00000562019 human ensembl 69_37n -1 known missense c.1330 p.E444Q 1.000 pfscan_RRM_dom pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 47 0 0.00 49 6 10.91 - - - CPED1 0 genome.wustl.edu 37 7 120737824 120737824 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 120737824 120737824 C T SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.688 p.H230Y 0.981 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 59 0 0.00 48 41 46.07 - - - CPED1 0 genome.wustl.edu 37 7 120935667 120935667 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 120935667 120935667 C G SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known missense c.3042 p.I1014M 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 43 0 0.00 23 17 42.50 - - - CRISP1 0 genome.wustl.edu 37 6 49819840 49819840 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 49819840 49819840 C T SNP CRISP1 ENST00000335847 human ensembl 69_37n -1 known silent c.69 p.K23 0.001 NULL pfam_Cysteine_rich_secretory,pfam_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors CRISP1 HGNC ENSG00000124812 155 0 0.00 59 56 48.70 - - - CRYGD 0 genome.wustl.edu 37 2 208986459 208986459 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 208986459 208986459 G A SNP CRYGD ENST00000264376 human ensembl 69_37n -1 known nonsense c.463 p.Q155* 0.005 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 21 0 0.00 27 14 34.15 - - - CSF3R 0 genome.wustl.edu 37 1 36932330 36932330 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 36932330 36932330 G C SNP CSF3R ENST00000373103 human ensembl 69_37n -1 known missense c.2220 p.N740K 0.002 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 50 0 0.00 21 9 30.00 - - - CSMD1 0 genome.wustl.edu 37 8 2975929 2975929 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 2975929 2975929 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.6425 p.R2142K 0.633 pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 47 0 0.00 42 28 40.00 - - - CSMD1 0 genome.wustl.edu 37 8 3224589 3224589 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 3224589 3224589 G A SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.3083 p.S1028L 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 68 0 0.00 39 20 33.90 - - - CSPP1 0 genome.wustl.edu 37 8 68062107 68062107 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 68062107 68062107 C G SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.2050 p.L684V 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 58 0 0.00 61 32 34.41 - - - CTNND1 0 genome.wustl.edu 37 11 57564298 57564298 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 57564298 57564298 C T SNP CTNND1 ENST00000399050 human ensembl 69_37n +1 known missense c.790 p.R264W 0.942 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 36 0 0.00 26 16 38.10 - - - CTSL2 0 genome.wustl.edu 37 9 99795261 99795261 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 99795261 99795261 G A SNP CTSL2 ENST00000259470 human ensembl 69_37n -1 known silent c.975 p.I325 0.991 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL2 HGNC ENSG00000136943 68 0 0.00 79 42 34.71 - - - CWH43 0 genome.wustl.edu 37 4 48988454 48988454 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 48988454 48988454 C T SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known missense c.8 p.S3L 0.006 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 8 0 0.00 6 5 45.45 - - - CWH43 0 genome.wustl.edu 37 4 49009315 49009315 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 49009315 49009315 C T SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known silent c.1158 p.F386 0.993 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 91 0 0.00 67 43 39.09 - - - CYP1A2 0 genome.wustl.edu 37 15 75042574 75042574 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 75042574 75042574 G C SNP CYP1A2 ENST00000343932 human ensembl 69_37n +1 known silent c.495 p.V165 0.989 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 134 0 0.00 40 21 34.43 - - - CYP4A11 0 genome.wustl.edu 37 1 47395897 47395897 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 47395897 47395897 G C SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known missense c.1453 p.P485A 0.982 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 134 0 0.00 52 33 38.82 - - - CYP4A11 0 genome.wustl.edu 37 1 47398430 47398430 + Nonstop_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 47398430 47398430 C G SNP CYP4A11 ENST00000371905 human ensembl 69_37n -1 known nonstop c.1367 p.*456S 0.981 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 157 0 0.00 97 50 34.01 - - - CYP4F3 0 genome.wustl.edu 37 19 15770099 15770099 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 15770099 15770099 C G SNP CYP4F3 ENST00000221307 human ensembl 69_37n +1 known missense c.1467 p.F489L 0.977 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I 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 CYP4F3 HGNC ENSG00000186529 29 0 0.00 13 9 40.91 - - - CYR61 0 genome.wustl.edu 37 1 86048233 86048233 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 86048233 86048233 G C SNP CYR61 ENST00000451137 human ensembl 69_37n +1 known missense c.769 p.E257Q 0.973 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC ENSG00000142871 43 0 0.00 36 23 38.98 - - - DAAM1 0 genome.wustl.edu 37 14 59830428 59830428 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 59830428 59830428 C T SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known silent c.2784 p.V928 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 151 0 0.00 58 36 38.30 - - - DAG1 0 genome.wustl.edu 37 3 49547891 49547891 + RNA SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49547891 49547891 G C SNP DAG1 ENST00000466701 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors DAG1 HGNC ENSG00000173402 17 0 0.00 12 11 47.83 - - - DBH 0 genome.wustl.edu 37 9 136507373 136507373 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 136507373 136507373 C T SNP DBH ENST00000393056 human ensembl 69_37n +1 known silent c.531 p.F177 0.000 smart_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 20 0 0.00 13 7 35.00 - - - DCAF6 0 genome.wustl.edu 37 1 167973911 167973911 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 167973911 167973911 C G SNP DCAF6 ENST00000367840 human ensembl 69_37n +1 known missense c.1258 p.Q420E 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 129 0 0.00 108 38 26.03 - - - DCTN4 0 genome.wustl.edu 37 5 150095128 150095128 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 150095128 150095128 C G SNP DCTN4 ENST00000446090 human ensembl 69_37n -1 known missense c.1189 p.D397H 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 62 0 0.00 49 28 35.90 - - - DDX20 0 genome.wustl.edu 37 1 112303409 112303409 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 112303409 112303409 G C SNP DDX20 ENST00000369702 human ensembl 69_37n +1 known missense c.762 p.L254F 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 79 0 0.00 110 69 38.55 - - - DDX24 0 genome.wustl.edu 37 14 94545820 94545820 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 94545820 94545820 C G SNP DDX24 ENST00000330836 human ensembl 69_37n -1 known missense c.269 p.G90A 0.007 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX24 HGNC ENSG00000089737 123 0 0.00 196 148 42.65 - - - DDX31 0 genome.wustl.edu 37 9 135537890 135537890 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 135537890 135537890 C T SNP DDX31 ENST00000372159 human ensembl 69_37n -1 known missense c.583 p.E195K 0.034 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 164 1 0.61 147 112 43.24 - - - DDX3X 0 genome.wustl.edu 37 X 41196696 41196696 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 41196696 41196696 G C SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known missense c.81 p.Q27H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 71 0 0.00 84 58 40.56 - - - DDX49 0 genome.wustl.edu 37 19 19035063 19035063 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 19035063 19035063 G A SNP DDX49 ENST00000247003 human ensembl 69_37n +1 known missense c.798 p.M266I 1.000 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX49 HGNC ENSG00000105671 17 0 0.00 17 11 39.29 - - - DDX6 0 genome.wustl.edu 37 11 118627886 118627886 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 118627886 118627886 C G SNP DDX6 ENST00000264018 human ensembl 69_37n -1 known missense c.1104 p.M368I 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX6 HGNC ENSG00000110367 35 0 0.00 20 27 57.45 - - - DEFB125 0 genome.wustl.edu 37 20 76674 76674 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 76674 76674 G C SNP DEFB125 ENST00000382410 human ensembl 69_37n +1 known missense c.87 p.K29N 0.948 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 27 0 0.00 37 22 37.29 - - - DEFB125 0 genome.wustl.edu 37 20 76792 76792 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 76792 76792 G C SNP DEFB125 ENST00000382410 human ensembl 69_37n +1 known missense c.205 p.A69P 0.000 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 57 0 0.00 60 36 37.50 - - - DEK 0 genome.wustl.edu 37 6 18236826 18236826 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 18236826 18236826 C T SNP DEK ENST00000397239 human ensembl 69_37n -1 known missense c.904 p.E302K 1.000 NULL pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd - no_errors DEK HGNC ENSG00000124795 43 0 0.00 48 25 34.25 - - - DENND4A 0 genome.wustl.edu 37 15 65994124 65994124 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 65994124 65994124 G C SNP DENND4A ENST00000443035 human ensembl 69_37n -1 known silent c.2535 p.A845 1.000 tigrfam_Pentatricopeptide_repeat pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 40 0 0.00 94 28 22.95 - - - DENND4B 0 genome.wustl.edu 37 1 153906685 153906685 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 153906685 153906685 C T SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known missense c.2867 p.G956E 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 34 0 0.00 16 10 37.04 - - - DEPDC5 0 genome.wustl.edu 37 22 32275716 32275716 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 32275716 32275716 G C SNP DEPDC5 ENST00000382105 human ensembl 69_37n +1 known missense c.3668 p.G1223A 1.000 NULL pfam_DUF3608 - no_errors DEPDC5 HGNC ENSG00000100150 76 0 0.00 22 10 31.25 - - - DFNA5 0 genome.wustl.edu 37 7 24756892 24756892 + Nonstop_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 24756892 24756892 C G SNP DFNA5 ENST00000446822 human ensembl 69_37n -1 putative nonstop c.152 p.*51S 0.991 pfam_Gasdermin pfam_Gasdermin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DFNA5 HGNC ENSG00000105928 63 0 0.00 21 17 44.74 - - - DGKB 0 genome.wustl.edu 37 7 14613986 14613986 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 14613986 14613986 C T SNP DGKB ENST00000258767 human ensembl 69_37n -1 known missense c.1624 p.E542K 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 135 0 0.00 122 69 36.13 - - - DGKD 0 genome.wustl.edu 37 2 234346099 234346099 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 234346099 234346099 C T SNP DGKD ENST00000264057 human ensembl 69_37n +1 known missense c.896 p.T299M 0.998 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 73 0 0.00 26 33 55.93 - - - DGKI 0 genome.wustl.edu 37 7 137308281 137308281 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 137308281 137308281 G C SNP DGKI ENST00000424189 human ensembl 69_37n -1 known missense c.824 p.S275C 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 159 0 0.00 88 52 37.14 - - - DHPS 0 genome.wustl.edu 37 19 12792434 12792434 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 12792434 12792434 G C SNP DHPS ENST00000210060 human ensembl 69_37n -1 known missense c.147 p.F49L 0.838 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 73 0 0.00 29 19 39.58 - - - DLGAP5 0 genome.wustl.edu 37 14 55643837 55643837 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 55643837 55643837 C T SNP DLGAP5 ENST00000247191 human ensembl 69_37n -1 known missense c.992 p.R331K 0.000 pfam_GKAP pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 106 0 0.00 73 53 42.06 - - - DMD 0 genome.wustl.edu 37 X 31241177 31241177 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 31241177 31241177 C T SNP DMD ENST00000465285 human ensembl 69_37n -1 novel missense c.2533 p.E845K 1.000 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ1,pfam_Spectrin_repeat,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DMD HGNC ENSG00000198947 48 0 0.00 37 19 33.93 - - - DMD 0 genome.wustl.edu 37 X 32662403 32662403 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 32662403 32662403 G A SNP DMD ENST00000357033 human ensembl 69_37n -1 known nonsense c.1177 p.Q393* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 72 0 0.00 140 21 13.04 - - - DMXL2 0 genome.wustl.edu 37 15 51773348 51773348 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 51773348 51773348 G A SNP DMXL2 ENST00000560891 human ensembl 69_37n -1 novel missense c.329 p.P110L 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DMXL2 HGNC ENSG00000104093 121 0 0.00 101 57 36.08 - - - DMXL2 0 genome.wustl.edu 37 15 51828902 51828902 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 51828902 51828902 G C SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known nonsense c.1775 p.S592* 0.005 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 108 0 0.00 37 26 41.27 - - - DNA2 0 genome.wustl.edu 37 10 70192010 70192010 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 70192010 70192010 G C SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.2084 p.S695C 1.000 NULL pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 52 0 0.00 40 18 31.03 - - - DNAH11 0 genome.wustl.edu 37 7 21818711 21818711 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 21818711 21818711 G A SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.9493 p.E3165K 1.000 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 34 0 0.00 26 17 39.53 - - - DNAH14 0 genome.wustl.edu 37 1 225239443 225239443 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 225239443 225239443 G C SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known missense c.2370 p.M790I 0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 23 0 0.00 26 17 39.53 - - - DNAH3 0 genome.wustl.edu 37 16 20996513 20996513 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 20996513 20996513 G C SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.7551 p.I2517M 0.998 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 83 0 0.00 47 22 31.88 - - - DNAH7 0 genome.wustl.edu 37 2 196674589 196674589 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 196674589 196674589 C G SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.9768 p.Q3256H 0.834 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 45 0 0.00 32 15 31.91 - - - DNAH9 0 genome.wustl.edu 37 17 11778415 11778415 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 11778415 11778415 C G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.10392 p.L3464 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 66 0 0.00 19 26 57.78 - - - DNAJC1 0 genome.wustl.edu 37 10 22045637 22045637 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 22045637 22045637 C G SNP DNAJC1 ENST00000376980 human ensembl 69_37n -1 known missense c.1644 p.K548N 1.000 superfamily_Homeodomain-like pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC1 HGNC ENSG00000136770 203 1 0.49 121 76 38.58 - - - DNMBP 0 genome.wustl.edu 37 10 101715753 101715753 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 101715753 101715753 C T SNP DNMBP ENST00000342239 human ensembl 69_37n -1 known missense c.1478 p.R493K 0.002 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors DNMBP HGNC ENSG00000107554 52 0 0.00 23 14 37.84 - - - DNMT3A 0 genome.wustl.edu 37 2 25467060 25467060 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 25467060 25467060 G A SNP DNMT3A ENST00000264709 human ensembl 69_37n -1 known silent c.1815 p.L605 0.998 superfamily_Znf_FYVE_PHD pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 21 0 0.00 4 7 63.64 - - - DOCK5 0 genome.wustl.edu 37 8 25156537 25156537 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 25156537 25156537 C T SNP DOCK5 ENST00000444569 human ensembl 69_37n +1 novel missense c.80 p.S27L 1.000 NULL superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOCK5 HGNC ENSG00000147459 84 0 0.00 91 44 32.59 - - - DTX3L 0 genome.wustl.edu 37 3 122288505 122288505 + Silent SNP T T G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 122288505 122288505 T G SNP DTX3L ENST00000296161 human ensembl 69_37n +1 known silent c.1569 p.G523 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 66 0 0.00 39 20 33.90 - - - DUSP10 0 genome.wustl.edu 37 1 221875834 221875834 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 221875834 221875834 C G SNP DUSP10 ENST00000366899 human ensembl 69_37n -1 known missense c.1369 p.E457Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 130 0 0.00 144 46 24.21 - - - DYNC2H1 0 genome.wustl.edu 37 11 103128449 103128449 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 103128449 103128449 G A SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.10595 p.R3532Q 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 83 0 0.00 96 57 37.25 - - - ECD 0 genome.wustl.edu 37 10 74897829 74897829 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 74897829 74897829 C G SNP ECD ENST00000430082 human ensembl 69_37n -1 known splice_site c.1521-1 e12-1 1.000 - - - no_errors ECD HGNC ENSG00000122882 40 0 0.00 59 49 45.37 - - - EDA2R 0 genome.wustl.edu 37 X 65824937 65824937 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 65824937 65824937 G C SNP EDA2R ENST00000253392 human ensembl 69_37n -1 known silent c.219 p.V73 0.991 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors EDA2R HGNC ENSG00000131080 113 0 0.00 44 16 26.67 - - - EDC3 0 genome.wustl.edu 37 15 74948281 74948281 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 74948281 74948281 C G SNP EDC3 ENST00000315127 human ensembl 69_37n -1 known missense c.613 p.D205H 1.000 pfam_FDF_dom pfam_YjeF_N,pfam_FDF_dom,superfamily_YjeF_N - no_errors EDC3 HGNC ENSG00000179151 113 0 0.00 103 142 57.72 - - - EFCAB4A 0 genome.wustl.edu 37 11 829410 829410 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 829410 829410 C T SNP EFCAB4A ENST00000450448 human ensembl 69_37n +1 known missense c.328 p.P110S 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC ENSG00000177685 10 0 0.00 13 6 31.58 - - - EFCAB5 0 genome.wustl.edu 37 17 28380671 28380671 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 28380671 28380671 G C SNP EFCAB5 ENST00000394835 human ensembl 69_37n +1 known missense c.1699 p.E567Q 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 141 0 0.00 128 78 37.86 - - - EFEMP2 0 genome.wustl.edu 37 11 65635373 65635373 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 65635373 65635373 G C SNP EFEMP2 ENST00000524408 human ensembl 69_37n -1 known nonsense c.5 p.S2* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EFEMP2 HGNC ENSG00000172638 41 0 0.00 25 13 34.21 - - - EIF3I 0 genome.wustl.edu 37 1 32692099 32692099 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 32692099 32692099 G A SNP EIF3I ENST00000373586 human ensembl 69_37n +1 known missense c.496 p.E166K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 34 0 0.00 72 21 22.58 - - - ELMO1 0 genome.wustl.edu 37 7 37354490 37354490 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 37354490 37354490 C G SNP ELMO1 ENST00000310758 human ensembl 69_37n -1 known missense c.156 p.Q52H 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 85 0 0.00 104 56 35.00 - - - EMILIN1 0 genome.wustl.edu 37 2 27306468 27306468 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 27306468 27306468 G A SNP EMILIN1 ENST00000380320 human ensembl 69_37n +1 known missense c.2029 p.D677N 1.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 20 0 0.00 22 17 43.59 - - - EML1 0 genome.wustl.edu 37 14 100405619 100405619 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 100405619 100405619 C G SNP EML1 ENST00000334192 human ensembl 69_37n +1 known missense c.2334 p.D778E 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 30 0 0.00 31 21 40.38 - - - EML1 0 genome.wustl.edu 37 14 100406371 100406371 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 100406371 100406371 C T SNP EML1 ENST00000334192 human ensembl 69_37n +1 known silent c.2427 p.V809 0.019 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 23 0 0.00 31 19 38.00 - - - ENPP4 0 genome.wustl.edu 37 6 46107941 46107941 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 46107941 46107941 G C SNP ENPP4 ENST00000321037 human ensembl 69_37n +1 known missense c.621 p.L207F 0.966 pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 30 0 0.00 48 35 42.17 - - - ENSG00000229702 0 genome.wustl.edu 37 X 129629128 129629128 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 129629128 129629128 G A SNP ENSG00000229702 ENST00000458525 human ensembl 69_37n -1 known rna NULL NULL 0.086 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 124 0 0.00 47 36 43.37 - - - ENSG00000257950 0 genome.wustl.edu 37 17 3567567 3567567 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 3567567 3567567 C G SNP ENSG00000257950 ENST00000550383 human ensembl 69_37n -1 known splice_site c.1299-1 e13-1 1.000 - - - no_errors RP11-48B14.2 Clone_based_vega_gene ENSG00000257950 29 0 0.00 22 17 43.59 - - - ENTHD1 0 genome.wustl.edu 37 22 40161418 40161418 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 40161418 40161418 G C SNP ENTHD1 ENST00000325157 human ensembl 69_37n -1 known missense c.1029 p.I343M 0.011 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 88 0 0.00 54 27 33.33 - - - ENTPD7 0 genome.wustl.edu 37 10 101460771 101460771 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 101460771 101460771 C G SNP ENTPD7 ENST00000370489 human ensembl 69_37n +1 known missense c.1377 p.F459L 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 184 0 0.00 115 84 42.21 - - - EPG5 0 genome.wustl.edu 37 18 43440250 43440250 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 43440250 43440250 C G SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.6828 p.M2276I 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 149 0 0.00 21 50 70.42 - - - EPHA7 0 genome.wustl.edu 37 6 93979356 93979356 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 93979356 93979356 G C SNP EPHA7 ENST00000369303 human ensembl 69_37n -1 known nonsense c.1472 p.S491* 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA7 HGNC ENSG00000135333 52 0 0.00 73 43 37.07 - - - EPHX2 0 genome.wustl.edu 37 8 27358452 27358452 + Nonstop_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 27358452 27358452 G C SNP EPHX2 ENST00000521684 human ensembl 69_37n +1 putative nonstop c.110 p.*37S 0.780 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPHX2 HGNC ENSG00000120915 76 0 0.00 47 34 41.98 - - - EPRS 0 genome.wustl.edu 37 1 220198564 220198564 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 220198564 220198564 C T SNP EPRS ENST00000366923 human ensembl 69_37n -1 known silent c.660 p.L220 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC ENSG00000136628 70 0 0.00 175 53 23.25 - - - EPT1 0 genome.wustl.edu 37 2 26609336 26609336 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 26609336 26609336 G C SNP EPT1 ENST00000260585 human ensembl 69_37n +1 known missense c.1027 p.E343Q 0.999 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - pseudogene EPT1 HGNC ENSG00000138018 83 0 0.00 98 68 40.96 - - - ERC2 0 genome.wustl.edu 37 3 55922574 55922574 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 55922574 55922574 C G SNP ERC2 ENST00000288221 human ensembl 69_37n -1 known missense c.2407 p.E803Q 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 238 0 0.00 103 76 42.46 - - - ERCC6 0 genome.wustl.edu 37 10 50668447 50668447 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 50668447 50668447 G A SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.4034 p.S1345L 0.107 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 92 0 0.00 38 25 39.68 - - - ERMAP 0 genome.wustl.edu 37 1 43296734 43296734 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 43296734 43296734 G C SNP ERMAP ENST00000372514 human ensembl 69_37n +1 known silent c.381 p.L127 0.129 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors ERMAP HGNC ENSG00000164010 63 0 0.00 57 15 20.55 - - - EVPL 0 genome.wustl.edu 37 17 74004966 74004966 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 74004966 74004966 C T SNP EVPL ENST00000301607 human ensembl 69_37n -1 known silent c.4320 p.R1440 0.995 NULL pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 40 0 0.00 37 14 27.45 - - - EXOC2 0 genome.wustl.edu 37 6 491139 491139 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 491139 491139 C T SNP EXOC2 ENST00000230449 human ensembl 69_37n -1 known silent c.2607 p.L869 0.997 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 63 0 0.00 37 25 40.32 - - - EXOC2 0 genome.wustl.edu 37 6 637808 637808 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 637808 637808 G C SNP EXOC2 ENST00000230449 human ensembl 69_37n -1 known nonsense c.11 p.S4* 0.038 superfamily_Ig_E-set pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 34 0 0.00 12 10 45.45 - - - FAAH 0 genome.wustl.edu 37 1 46871175 46871175 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 46871175 46871175 C G SNP FAAH ENST00000243167 human ensembl 69_37n +1 known missense c.576 p.F192L 0.999 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 33 0 0.00 26 12 31.58 - - - FABP12 0 genome.wustl.edu 37 8 82441796 82441796 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 82441796 82441796 C T SNP FABP12 ENST00000519696 human ensembl 69_37n -1 known missense c.76 p.D26N 0.949 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FABP12 HGNC ENSG00000197416 87 0 0.00 81 44 35.20 - - - FABP7 0 genome.wustl.edu 37 6 123101495 123101495 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 123101495 123101495 C G SNP FABP7 ENST00000356535 human ensembl 69_37n +1 known missense c.133 p.Q45E 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP7 HGNC ENSG00000164434 58 0 0.00 43 25 36.76 - - - FABP9 0 genome.wustl.edu 37 8 82371455 82371455 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 82371455 82371455 G C SNP FABP9 ENST00000379071 human ensembl 69_37n -1 known missense c.191 p.S64C 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 83 0 0.00 96 55 36.42 - - - FAM111B 0 genome.wustl.edu 37 11 58877147 58877147 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 58877147 58877147 G C SNP FAM111B ENST00000343597 human ensembl 69_37n +1 known missense c.49 p.D17H 0.017 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 40 0 0.00 43 47 52.22 - - - FAM117B 0 genome.wustl.edu 37 2 203630268 203630268 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 203630268 203630268 C T SNP FAM117B ENST00000392238 human ensembl 69_37n +1 known silent c.1551 p.I517 1.000 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 61 0 0.00 38 17 30.91 - - - FAM160A1 0 genome.wustl.edu 37 4 152498781 152498781 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 152498781 152498781 G A SNP FAM160A1 ENST00000435205 human ensembl 69_37n +1 known silent c.285 p.E95 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 124 0 0.00 23 30 56.60 - - - FAM171A2 0 genome.wustl.edu 37 17 42432501 42432501 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 42432501 42432501 C T SNP FAM171A2 ENST00000293443 human ensembl 69_37n -1 known missense c.1081 p.D361N 0.921 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC ENSG00000161682 16 0 0.00 1 5 83.33 - - - FAM189A1 0 genome.wustl.edu 37 15 29674025 29674025 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 29674025 29674025 G A SNP FAM189A1 ENST00000261275 human ensembl 69_37n -1 known missense c.230 p.S77L 0.986 pfam_CD20-like pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 81 0 0.00 21 10 32.26 - - - FAM212B 0 genome.wustl.edu 37 1 112270146 112270146 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 112270146 112270146 C T SNP FAM212B ENST00000357260 human ensembl 69_37n -1 known missense c.338 p.G113E 0.041 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 75 0 0.00 14 5 26.32 - - - FAM219B 0 genome.wustl.edu 37 15 75198649 75198649 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 75198649 75198649 G A SNP FAM219B ENST00000357635 human ensembl 69_37n -1 known missense c.272 p.S91L 0.111 NULL NULL - no_errors FAM219B HGNC ENSG00000178761 12 0 0.00 9 14 60.87 - - - FAM22F 0 genome.wustl.edu 37 9 97083438 97083438 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 97083438 97083438 G C SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.919 p.P307A 0.007 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 32 0 0.00 5 5 50.00 - - - FAM63A 0 genome.wustl.edu 37 1 150970156 150970156 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 150970156 150970156 G C SNP FAM63A ENST00000361738 human ensembl 69_37n -1 known missense c.1417 p.Q473E 1.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 30 0 0.00 22 6 21.43 - - - FAM73B 0 genome.wustl.edu 37 9 131804681 131804681 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 131804681 131804681 G A SNP FAM73B ENST00000358369 human ensembl 69_37n +1 known silent c.195 p.L65 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 40 0 0.00 15 11 42.31 - - - FAM75D1 0 genome.wustl.edu 37 9 84608774 84608774 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 84608774 84608774 G C SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.3389 p.R1130T 0.000 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 29 0 0.00 24 9 27.27 - - - FAM82A1 0 genome.wustl.edu 37 2 38202433 38202433 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 38202433 38202433 G C SNP FAM82A1 ENST00000234195 human ensembl 69_37n +1 known missense c.1240 p.E414Q 0.913 NULL NULL - no_errors FAM82A1 HGNC ENSG00000115841 93 0 0.00 80 70 46.67 - - - FAM82A2 0 genome.wustl.edu 37 15 41037426 41037426 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 41037426 41037426 C T SNP FAM82A2 ENST00000260385 human ensembl 69_37n -1 known missense c.556 p.E186K 1.000 NULL NULL - no_errors FAM82A2 HGNC ENSG00000137824 122 0 0.00 78 52 40.00 - - - FAM84A 0 genome.wustl.edu 37 2 14774939 14774939 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 14774939 14774939 G C SNP FAM84A ENST00000295092 human ensembl 69_37n +1 known missense c.836 p.R279P 0.988 NULL pfam_LRAT-like_dom - no_errors FAM84A HGNC ENSG00000162981 14 0 0.00 6 6 50.00 - - - FBN1 0 genome.wustl.edu 37 15 48818444 48818444 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 48818444 48818444 C T SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.871 p.E291K 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 87 0 0.00 34 20 37.04 - - - FBXL18 0 genome.wustl.edu 37 7 5540850 5540850 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 5540850 5540850 G A SNP FBXL18 ENST00000458142 human ensembl 69_37n -1 putative missense c.701 p.S234L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBXL18 HGNC ENSG00000155034 32 0 0.00 9 9 50.00 - - - FBXO18 0 genome.wustl.edu 37 10 5969465 5969465 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 5969465 5969465 C G SNP FBXO18 ENST00000379999 human ensembl 69_37n +1 known missense c.2943 p.I981M 1.000 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC ENSG00000134452 115 0 0.00 116 69 37.30 - - - FBXO3 0 genome.wustl.edu 37 11 33795989 33795989 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 33795989 33795989 C T SNP FBXO3 ENST00000265651 human ensembl 69_37n -1 known missense c.55 p.D19N 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like - no_errors FBXO3 HGNC ENSG00000110429 30 0 0.00 10 8 44.44 - - - FER1L6 0 genome.wustl.edu 37 8 125072857 125072857 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 125072857 125072857 C T SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known silent c.3054 p.L1018 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 124 0 0.00 92 45 32.85 - - - FGD4 0 genome.wustl.edu 37 12 32793347 32793347 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 32793347 32793347 G A SNP FGD4 ENST00000427716 human ensembl 69_37n +1 known silent c.2181 p.L727 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 87 0 0.00 25 25 50.00 - - - FGF10 0 genome.wustl.edu 37 5 44305146 44305146 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 44305146 44305146 C T SNP FGF10 ENST00000264664 human ensembl 69_37n -1 known missense c.578 p.R193Q 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF10 HGNC ENSG00000070193 199 0 0.00 168 86 33.86 - - - FGFR1 0 genome.wustl.edu 37 8 38272342 38272342 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 38272342 38272342 G A SNP FGFR1 ENST00000425967 human ensembl 69_37n -1 known silent c.2025 p.L675 0.004 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,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 98 0 0.00 56 29 34.12 - - - FGFR2 0 genome.wustl.edu 37 10 123274822 123274822 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 123274822 123274822 C G SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1099 p.E367Q 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 49 0 0.00 52 20 27.40 - - - FHIT 0 genome.wustl.edu 37 3 59999791 59999791 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 59999791 59999791 C G SNP FHIT ENST00000341848 human ensembl 69_37n -1 known missense c.191 p.R64T 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_Histidine_triad_HIT - no_errors FHIT HGNC ENSG00000189283 70 0 0.00 38 23 37.70 - - - FHOD1 0 genome.wustl.edu 37 16 67268019 67268019 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 67268019 67268019 G C SNP FHOD1 ENST00000258201 human ensembl 69_37n -1 known missense c.1587 p.I529M 0.008 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC ENSG00000135723 25 0 0.00 14 11 44.00 - - - FKBP15 0 genome.wustl.edu 37 9 115983586 115983586 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 115983586 115983586 C T SNP FKBP15 ENST00000446284 human ensembl 69_37n -1 known missense c.13 p.D5N 0.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_start_codon FKBP15 HGNC ENSG00000119321 25 0 0.00 9 6 40.00 - - - FKBP8 0 genome.wustl.edu 37 19 18652654 18652654 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 18652654 18652654 C G SNP FKBP8 ENST00000453489 human ensembl 69_37n -1 known missense c.214 p.E72Q 1.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 23 0 0.00 14 15 50.00 - - - FKTN 0 genome.wustl.edu 37 9 108397331 108397331 + Splice_Site SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 108397331 108397331 G C SNP FKTN ENST00000223528 human ensembl 69_37n +1 known splice_site c.1173-1 e9-1 1.000 - - - no_errors FKTN HGNC ENSG00000106692 129 0 0.00 67 40 37.38 - - - FLAD1 0 genome.wustl.edu 37 1 154956531 154956531 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 154956531 154956531 G C SNP FLAD1 ENST00000292180 human ensembl 69_37n +1 known missense c.361 p.E121Q 1.000 pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd - no_errors FLAD1 HGNC ENSG00000160688 32 0 0.00 14 7 33.33 - - - FLRT2 0 genome.wustl.edu 37 14 86088200 86088200 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 86088200 86088200 C G SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known silent c.342 p.L114 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 65 0 0.00 30 16 34.78 - - - FLT3LG 0 genome.wustl.edu 37 19 49979435 49979435 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 49979435 49979435 G C SNP FLT3LG ENST00000204637 human ensembl 69_37n +1 known missense c.178 p.V60L 0.093 pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core - no_errors FLT3LG HGNC ENSG00000090554 47 0 0.00 35 25 41.67 - - - FLT4 0 genome.wustl.edu 37 5 180049834 180049834 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 180049834 180049834 C T SNP FLT4 ENST00000261937 human ensembl 69_37n -1 known silent c.1554 p.V518 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 18 0 0.00 37 23 38.33 - - - FMR1 0 genome.wustl.edu 37 X 147010189 147010189 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 147010189 147010189 G A SNP FMR1 ENST00000370475 human ensembl 69_37n +1 known missense c.283 p.E95K 1.000 pfam_Agenet pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 48 0 0.00 31 20 39.22 - - - FNDC7 0 genome.wustl.edu 37 1 109284421 109284421 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 109284421 109284421 G C SNP FNDC7 ENST00000271311 human ensembl 69_37n +1 known missense c.2200 p.E734Q 0.919 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 51 0 0.00 46 33 41.77 - - - FOCAD 0 genome.wustl.edu 37 9 20990281 20990281 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 20990281 20990281 C T SNP FOCAD ENST00000338382 human ensembl 69_37n +1 known missense c.5164 p.H1722Y 0.929 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 23 0 0.00 138 25 15.15 - - - FRAS1 0 genome.wustl.edu 37 4 79359817 79359817 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 79359817 79359817 G C SNP FRAS1 ENST00000264895 human ensembl 69_37n +1 known missense c.5311 p.E1771Q 1.000 NULL 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 45 0 0.00 53 42 43.75 - - - FRMD3 0 genome.wustl.edu 37 9 85924483 85924483 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 85924483 85924483 C T SNP FRMD3 ENST00000304195 human ensembl 69_37n -1 known nonsense c.894 p.W298* 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD3 HGNC ENSG00000172159 34 0 0.00 21 11 34.38 - - - FSHR 0 genome.wustl.edu 37 2 49210299 49210299 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 49210299 49210299 C G SNP FSHR ENST00000406846 human ensembl 69_37n -1 known silent c.531 p.L177 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 149 0 0.00 52 36 40.91 - - - FTSJ3 0 genome.wustl.edu 37 17 61897324 61897324 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 61897324 61897324 C G SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known missense c.2382 p.E794D 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 419 0 0.00 121 77 38.89 - - - FUT11 0 genome.wustl.edu 37 10 75533554 75533554 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 75533554 75533554 G C SNP FUT11 ENST00000372841 human ensembl 69_37n +1 known missense c.1315 p.E439Q 1.000 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT11 HGNC ENSG00000196968 21 0 0.00 18 10 35.71 - - - FYCO1 0 genome.wustl.edu 37 3 46010171 46010171 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 46010171 46010171 C G SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known missense c.655 p.D219H 0.990 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 25 0 0.00 30 12 28.57 - - - FZD6 0 genome.wustl.edu 37 8 104337379 104337379 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 104337379 104337379 G A SNP FZD6 ENST00000358755 human ensembl 69_37n +1 known missense c.1045 p.E349K 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 130 1 0.76 108 63 36.63 - - - GABBR2 0 genome.wustl.edu 37 9 101133761 101133761 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 101133761 101133761 C T SNP GABBR2 ENST00000259455 human ensembl 69_37n -1 known silent c.1755 p.V585 1.000 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 145 0 0.00 47 41 46.59 - - - GABRA4 0 genome.wustl.edu 37 4 46930718 46930718 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 46930718 46930718 C T SNP GABRA4 ENST00000264318 human ensembl 69_37n -1 known missense c.1189 p.E397K 0.670 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 31 0 0.00 21 17 44.74 - - - GABRA5 0 genome.wustl.edu 37 15 27185190 27185190 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 27185190 27185190 G A SNP GABRA5 ENST00000335625 human ensembl 69_37n +1 known silent c.843 p.L281 0.998 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 92 0 0.00 43 35 44.87 - - - GABRB1 0 genome.wustl.edu 37 4 47405379 47405379 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 47405379 47405379 G A SNP GABRB1 ENST00000295454 human ensembl 69_37n +1 known missense c.589 p.E197K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 118 0 0.00 157 90 36.29 - - - GABRG1 0 genome.wustl.edu 37 4 46043085 46043085 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 46043085 46043085 C T SNP GABRG1 ENST00000295452 human ensembl 69_37n -1 known missense c.1318 p.D440N 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 46 0 0.00 37 48 56.47 - - - GABRG2 0 genome.wustl.edu 37 5 161524772 161524772 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 161524772 161524772 C T SNP GABRG2 ENST00000356592 human ensembl 69_37n +1 known silent c.456 p.F152 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 73 0 0.00 62 42 40.38 - - - GALNT5 0 genome.wustl.edu 37 2 158162339 158162339 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 158162339 158162339 G C SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.2518 p.E840Q 0.009 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 180 0 0.00 156 115 42.44 - - - GAPVD1 0 genome.wustl.edu 37 9 128117073 128117073 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 128117073 128117073 G C SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known missense c.3791 p.R1264T 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 45 0 0.00 66 22 25.00 - - - GAS2L3 0 genome.wustl.edu 37 12 101018195 101018195 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 101018195 101018195 C G SNP GAS2L3 ENST00000266754 human ensembl 69_37n +1 known missense c.1612 p.Q538E 0.980 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 43 0 0.00 38 25 39.68 - - - GFPT2 0 genome.wustl.edu 37 5 179763566 179763566 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 179763566 179763566 C T SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known missense c.127 p.D43N 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 56 0 0.00 114 60 34.48 - - - GGPS1 0 genome.wustl.edu 37 1 235505413 235505413 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 235505413 235505413 C T SNP GGPS1 ENST00000282841 human ensembl 69_37n +1 known missense c.229 p.P77S 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 29 0 0.00 55 15 21.43 - - - GJB4 0 genome.wustl.edu 37 1 35227506 35227506 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 35227506 35227506 C T SNP GJB4 ENST00000339480 human ensembl 69_37n +1 known silent c.651 p.F217 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 39 0 0.00 16 8 33.33 - - - GLCE 0 genome.wustl.edu 37 15 69561130 69561130 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 69561130 69561130 C T SNP GLCE ENST00000261858 human ensembl 69_37n +1 known silent c.1401 p.L467 0.974 pfam_C5-epim pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 25 0 0.00 29 37 56.06 - - - GLI2 0 genome.wustl.edu 37 2 121712909 121712909 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 121712909 121712909 C G SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known silent c.546 p.L182 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 21 0 0.00 10 7 41.18 - - - GLRX2 0 genome.wustl.edu 37 1 193074729 193074729 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 193074729 193074729 G C SNP GLRX2 ENST00000367440 human ensembl 69_37n -1 known missense c.40 p.L14V 0.001 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 20 0 0.00 37 10 20.83 - - - GMNN 0 genome.wustl.edu 37 6 24784392 24784392 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 24784392 24784392 G C SNP GMNN ENST00000230056 human ensembl 69_37n +1 known missense c.352 p.E118Q 1.000 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 23 0 0.00 38 15 28.30 - - - GNAZ 0 genome.wustl.edu 37 22 23465379 23465379 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 23465379 23465379 G C SNP GNAZ ENST00000248996 human ensembl 69_37n +1 known missense c.829 p.E277Q 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 39 0 0.00 52 38 42.22 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23686032 23686032 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 23686032 23686032 C G SNP GOLGA6L2 ENST00000345070 human ensembl 69_37n -1 known missense c.771 p.E257D 0.001 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 44 0 0.00 182 94 34.06 - - - GON4L 0 genome.wustl.edu 37 1 155720476 155720476 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 155720476 155720476 C T SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.6625 p.E2209K 0.995 superfamily_Homeodomain-like pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 132 0 0.00 134 61 31.12 - - - GP6 0 genome.wustl.edu 37 19 55525836 55525836 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 55525836 55525836 G C SNP GP6 ENST00000310373 human ensembl 69_37n -1 known missense c.1477 p.H493D 0.029 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 120 0 0.00 34 21 38.18 - - - GPATCH8 0 genome.wustl.edu 37 17 42478352 42478352 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 42478352 42478352 G A SNP GPATCH8 ENST00000591680 human ensembl 69_37n -1 known nonsense c.1093 p.Q365* 0.999 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 68 0 0.00 19 31 62.00 - - - GPR113 0 genome.wustl.edu 37 2 26569092 26569092 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 26569092 26569092 C T SNP GPR113 ENST00000333478 human ensembl 69_37n -1 known missense c.11 p.R4Q 0.975 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 42 0 0.00 46 28 37.84 - - - GPR116 0 genome.wustl.edu 37 6 46826994 46826994 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 46826994 46826994 G C SNP GPR116 ENST00000265417 human ensembl 69_37n -1 known silent c.2646 p.V882 0.778 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 91 0 0.00 63 24 27.59 - - - GPR42 0 genome.wustl.edu 37 19 35862924 35862924 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 35862924 35862924 G C SNP GPR42 ENST00000454971 human ensembl 69_37n +1 known missense c.663 p.R221S 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR40-rel_recept pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC ENSG00000126251 25 0 0.00 4 10 71.43 - - - GRIN2B 0 genome.wustl.edu 37 12 13906514 13906514 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 13906514 13906514 C T SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known silent c.747 p.L249 1.000 pfam_ANF_lig-bd_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 194 0 0.00 47 33 41.25 - - - GRM6 0 genome.wustl.edu 37 5 178418435 178418435 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 178418435 178418435 C G SNP GRM6 ENST00000231188 human ensembl 69_37n -1 known missense c.847 p.D283H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM6 HGNC ENSG00000113262 52 0 0.00 40 23 36.51 - - - GSTA1 0 genome.wustl.edu 37 6 52664036 52664036 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 52664036 52664036 G C SNP GSTA1 ENST00000334575 human ensembl 69_37n -1 known missense c.30 p.F10L 0.998 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA1 HGNC ENSG00000243955 87 0 0.00 101 69 40.59 - - - GSTA5 0 genome.wustl.edu 37 6 52696672 52696672 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 52696672 52696672 C G SNP GSTA5 ENST00000284562 human ensembl 69_37n -1 known missense c.643 p.E215Q 0.001 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 239 0 0.00 183 100 35.34 - - - GTF2I 0 genome.wustl.edu 37 7 74163414 74163414 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 74163414 74163414 C G SNP GTF2I ENST00000324896 human ensembl 69_37n +1 known missense c.2223 p.F741L 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 19 0 0.00 11 5 31.25 - - - GTF2IRD2P1 0 genome.wustl.edu 37 7 72658156 72658156 + RNA SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 72658156 72658156 C A SNP GTF2IRD2P1 ENST00000425256 human ensembl 69_37n -1 known rna NULL NULL 0.930 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 37 0 0.00 32 16 33.33 - - - GTF3C1 0 genome.wustl.edu 37 16 27476706 27476706 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 27476706 27476706 C G SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known missense c.5230 p.E1744Q 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 52 0 0.00 21 14 40.00 - - - H1FNT 0 genome.wustl.edu 37 12 48723142 48723142 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 48723142 48723142 C G SNP H1FNT ENST00000335017 human ensembl 69_37n +1 known missense c.68 p.A23G 0.924 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 21 0 0.00 4 5 55.56 - - - HAS2 0 genome.wustl.edu 37 8 122627209 122627209 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 122627209 122627209 C G SNP HAS2 ENST00000303924 human ensembl 69_37n -1 known missense c.799 p.E267Q 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 40 0 0.00 26 13 33.33 - - - HDX 0 genome.wustl.edu 37 X 83724168 83724168 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 83724168 83724168 G C SNP HDX ENST00000297977 human ensembl 69_37n -1 known nonsense c.563 p.S188* 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC ENSG00000165259 188 0 0.00 107 60 35.93 - - - HERC1 0 genome.wustl.edu 37 15 63966589 63966589 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 63966589 63966589 C G SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.7798 p.V2600L 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 45 0 0.00 26 36 58.06 - - - HERC1 0 genome.wustl.edu 37 15 64040012 64040012 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 64040012 64040012 C G SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.2265 p.E755D 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 36 0 0.00 32 41 56.16 - - - HHLA1 0 genome.wustl.edu 37 8 133088357 133088357 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 133088357 133088357 C G SNP HHLA1 ENST00000414222 human ensembl 69_37n -1 known missense c.1260 p.W420C 0.745 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 26 0 0.00 43 40 48.19 - - - HIST1H4D 0 genome.wustl.edu 37 6 26189187 26189187 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 26189187 26189187 G A SNP HIST1H4D ENST00000340756 human ensembl 69_37n -1 known missense c.118 p.R40C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4D HGNC ENSG00000188987 41 0 0.00 31 32 50.79 - - - HK1 0 genome.wustl.edu 37 10 71158402 71158402 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 71158402 71158402 G C SNP HK1 ENST00000448642 human ensembl 69_37n +1 known silent c.2532 p.L844 0.997 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 68 0 0.00 20 12 37.50 - - - HLA-DQA2 0 genome.wustl.edu 37 6 32712977 32712977 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 32712977 32712977 C T SNP HLA-DQA2 ENST00000374940 human ensembl 69_37n +1 known missense c.124 p.H42Y 0.484 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DQA2 HGNC ENSG00000237541 14 0 0.00 34 15 30.61 - - - HLA-J 0 genome.wustl.edu 37 6 29974803 29974803 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 29974803 29974803 G A SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.021 - - - no_errors HLA-J HGNC ENSG00000204622 134 0 0.00 73 47 39.17 - - - HMG20A 0 genome.wustl.edu 37 15 77769896 77769896 + Splice_Site SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 77769896 77769896 G C SNP HMG20A ENST00000336216 human ensembl 69_37n +1 known splice_site c.616-1 e6-1 1.000 - - - no_errors HMG20A HGNC ENSG00000140382 54 0 0.00 94 42 30.88 - - - HMGCLL1 0 genome.wustl.edu 37 6 55441935 55441935 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 55441935 55441935 G C SNP HMGCLL1 ENST00000398661 human ensembl 69_37n -1 known missense c.139 p.Q47E 0.000 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 29 0 0.00 22 16 42.11 - - - HMGCR 0 genome.wustl.edu 37 5 74650360 74650360 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 74650360 74650360 C T SNP HMGCR ENST00000287936 human ensembl 69_37n +1 known silent c.1401 p.I467 1.000 superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 48 0 0.00 19 25 56.82 - - - HNRNPH3 0 genome.wustl.edu 37 10 70098408 70098408 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 70098408 70098408 G A SNP HNRNPH3 ENST00000265866 human ensembl 69_37n +1 known missense c.400 p.D134N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 133 0 0.00 134 74 35.58 - - - HORMAD1 0 genome.wustl.edu 37 1 150679148 150679148 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 150679148 150679148 C G SNP HORMAD1 ENST00000361824 human ensembl 69_37n -1 known missense c.685 p.E229Q 1.000 superfamily_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 225 0 0.00 366 155 29.75 - - - HOXB9 0 genome.wustl.edu 37 17 46700309 46700309 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 46700309 46700309 G A SNP HOXB9 ENST00000311177 human ensembl 69_37n -1 known missense c.706 p.R236W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 280 1 0.36 1379 249 15.29 - - - HOXD10 0 genome.wustl.edu 37 2 176981648 176981648 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 176981648 176981648 C T SNP HOXD10 ENST00000249501 human ensembl 69_37n +1 known silent c.87 p.S29 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors HOXD10 HGNC ENSG00000128710 42 0 0.00 53 18 25.00 - - - HSPA4L 0 genome.wustl.edu 37 4 128725013 128725013 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 128725013 128725013 C T SNP HSPA4L ENST00000439123 human ensembl 69_37n +1 known missense c.986 p.S329F 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 51 0 0.00 54 22 28.95 - - - HSPA5 0 genome.wustl.edu 37 9 127999296 127999296 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 127999296 127999296 C G SNP HSPA5 ENST00000324460 human ensembl 69_37n -1 known missense c.1540 p.E514Q 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 104 0 0.00 117 81 40.91 - - - HSPD1 0 genome.wustl.edu 37 2 198358179 198358179 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 198358179 198358179 C T SNP HSPD1 ENST00000345042 human ensembl 69_37n -1 known silent c.738 p.L246 0.502 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 10 0 0.00 45 20 30.77 - - - HTATIP2 0 genome.wustl.edu 37 11 20398235 20398235 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 20398235 20398235 C G SNP HTATIP2 ENST00000419348 human ensembl 69_37n +1 known nonsense c.515 p.S172* 0.937 NULL pfam_Semialdehyde_DH_NAD-bd - no_errors HTATIP2 HGNC ENSG00000109854 86 0 0.00 86 74 45.96 - - - HTR1D 0 genome.wustl.edu 37 1 23519904 23519904 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 23519904 23519904 G C SNP HTR1D ENST00000314113 human ensembl 69_37n -1 known missense c.809 p.S270C 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 41 0 0.00 6 16 72.73 - - - HTR3A 0 genome.wustl.edu 37 11 113857358 113857358 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 113857358 113857358 C T SNP HTR3A ENST00000355556 human ensembl 69_37n +1 known missense c.842 p.S281F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 89 0 0.00 11 29 72.50 - - - HUS1B 0 genome.wustl.edu 37 6 656149 656149 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 656149 656149 G C SNP HUS1B ENST00000380907 human ensembl 69_37n -1 known missense c.796 p.Q266E 0.940 pfam_Hus1,pirsf_Cell_cycle_HUS1 pfam_Hus1,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 70 0 0.00 30 23 43.40 - - - HUWE1 0 genome.wustl.edu 37 X 53575140 53575140 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 53575140 53575140 G C SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known nonsense c.10130 p.S3377* 0.996 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 124 0 0.00 36 20 35.71 - - - HVCN1 0 genome.wustl.edu 37 12 111087993 111087993 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 111087993 111087993 C G SNP HVCN1 ENST00000242607 human ensembl 69_37n -1 known missense c.736 p.E246Q 0.988 NULL pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 146 0 0.00 103 68 39.77 - - - IARS2 0 genome.wustl.edu 37 1 220273922 220273922 + Nonsense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 220273922 220273922 G T SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known nonsense c.481 p.E161* 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 30 0 0.00 66 30 31.25 - - - IDI1 0 genome.wustl.edu 37 10 1088574 1088574 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 1088574 1088574 C G SNP IDI1 ENST00000381344 human ensembl 69_37n -1 known missense c.535 p.E179Q 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1 - no_errors IDI1 HGNC ENSG00000067064 41 0 0.00 52 26 33.33 - - - IFIT5 0 genome.wustl.edu 37 10 91178390 91178390 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 91178390 91178390 C G SNP IFIT5 ENST00000371795 human ensembl 69_37n +1 known silent c.1434 p.L478 0.565 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 30 0 0.00 42 17 28.81 - - - IFT122 0 genome.wustl.edu 37 3 129185735 129185735 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 129185735 129185735 G A SNP IFT122 ENST00000296266 human ensembl 69_37n +1 known missense c.719 p.R240Q 0.995 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 108 0 0.00 67 51 43.22 - - - IGF2BP2 0 genome.wustl.edu 37 3 185542725 185542725 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 185542725 185542725 C T SNP IGF2BP2 ENST00000382199 human ensembl 69_37n -1 known silent c.24 p.G8 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 8 0 0.00 13 5 27.78 - - - IGKV1D-43 0 genome.wustl.edu 37 2 90249252 90249252 + Missense_Mutation SNP A A C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 90249252 90249252 A C SNP IGKV1D-43 ENST00000468879 human ensembl 69_37n +1 known missense c.208 p.I70L 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-43 HGNC ENSG00000242580 145 0 0.00 165 95 36.54 - - - IL22 0 genome.wustl.edu 37 12 68642599 68642599 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 68642599 68642599 G C SNP IL22 ENST00000328087 human ensembl 69_37n -1 known missense c.520 p.L174V 0.449 superfamily_4_helix_cytokine-like_core,prints_Interleukin-22,prints_Interleukin-24 superfamily_4_helix_cytokine-like_core,prints_Interleukin-22,prints_Interleukin-24 - no_errors IL22 HGNC ENSG00000127318 248 0 0.00 85 63 42.57 - - - ILF3 0 genome.wustl.edu 37 19 10791989 10791989 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 10791989 10791989 G C SNP ILF3 ENST00000449870 human ensembl 69_37n +1 known missense c.1164 p.K388N 1.000 NULL pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors ILF3 HGNC ENSG00000129351 24 0 0.00 24 25 51.02 - - - ING1 0 genome.wustl.edu 37 13 111372216 111372216 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 111372216 111372216 G A SNP ING1 ENST00000375774 human ensembl 69_37n +1 known silent c.1206 p.E402 0.956 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 25 0 0.00 4 12 75.00 - - - INPP5D 0 genome.wustl.edu 37 2 233986823 233986823 + Nonsense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 233986823 233986823 G T SNP INPP5D ENST00000359570 human ensembl 69_37n +1 known nonsense c.205 p.E69* 0.997 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2 - no_errors INPP5D HGNC ENSG00000168918 26 0 0.00 14 22 61.11 - - - INSC 0 genome.wustl.edu 37 11 15212255 15212255 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 15212255 15212255 G A SNP INSC ENST00000379554 human ensembl 69_37n +1 known silent c.729 p.V243 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 38 0 0.00 36 17 32.08 - - - INSIG2 0 genome.wustl.edu 37 2 118864432 118864432 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 118864432 118864432 C T SNP INSIG2 ENST00000245787 human ensembl 69_37n +1 known silent c.489 p.F163 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 267 0 0.00 188 108 36.36 - - - INSIG2 0 genome.wustl.edu 37 2 118864694 118864694 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 118864694 118864694 C T SNP INSIG2 ENST00000245787 human ensembl 69_37n +1 known missense c.565 p.R189C 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 116 0 0.00 105 65 38.24 - - - INVS 0 genome.wustl.edu 37 9 103062875 103062875 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 103062875 103062875 C G SNP INVS ENST00000262457 human ensembl 69_37n +1 known silent c.3117 p.L1039 0.967 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 60 0 0.00 46 30 39.47 - - - IQCC 0 genome.wustl.edu 37 1 32673500 32673500 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 32673500 32673500 G A SNP IQCC ENST00000537469 human ensembl 69_37n +1 known silent c.1458 p.Q486 0.446 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 18 0 0.00 17 13 43.33 - - - IQGAP1 0 genome.wustl.edu 37 15 91009562 91009562 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 91009562 91009562 G A SNP IQGAP1 ENST00000268182 human ensembl 69_37n +1 known silent c.1929 p.L643 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 71 0 0.00 63 29 31.52 - - - IQGAP1 0 genome.wustl.edu 37 15 91016137 91016137 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 91016137 91016137 G C SNP IQGAP1 ENST00000268182 human ensembl 69_37n +1 known silent c.2244 p.L748 0.997 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 53 0 0.00 35 12 25.53 - - - IQGAP1 0 genome.wustl.edu 37 15 91019954 91019954 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 91019954 91019954 G A SNP IQGAP1 ENST00000268182 human ensembl 69_37n +1 known missense c.2844 p.M948I 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 74 0 0.00 109 42 27.81 - - - IQGAP1 0 genome.wustl.edu 37 15 91021107 91021107 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 91021107 91021107 G C SNP IQGAP1 ENST00000268182 human ensembl 69_37n +1 known missense c.3315 p.Q1105H 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 59 0 0.00 77 28 26.67 - - - IRAK2 0 genome.wustl.edu 37 3 10258684 10258684 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 10258684 10258684 C T SNP IRAK2 ENST00000256458 human ensembl 69_37n +1 known silent c.855 p.I285 0.960 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 102 0 0.00 50 31 38.27 - - - IRF6 0 genome.wustl.edu 37 1 209964001 209964001 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 209964001 209964001 C G SNP IRF6 ENST00000367021 human ensembl 69_37n -1 known missense c.899 p.R300T 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 58 0 0.00 37 13 26.00 - - - IRF9 0 genome.wustl.edu 37 14 24631447 24631447 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 24631447 24631447 G C SNP IRF9 ENST00000396864 human ensembl 69_37n +1 known missense c.94 p.D32H 0.967 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 53 0 0.00 20 16 44.44 - - - ISG20L2 0 genome.wustl.edu 37 1 156697019 156697019 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 156697019 156697019 C G SNP ISG20L2 ENST00000313146 human ensembl 69_37n -1 known missense c.426 p.Q142H 0.853 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 60 0 0.00 107 40 27.03 - - - ISLR2 0 genome.wustl.edu 37 15 74425644 74425644 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 74425644 74425644 C T SNP ISLR2 ENST00000361742 human ensembl 69_37n +1 known silent c.549 p.F183 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ENSG00000167178 27 0 0.00 21 7 25.00 - - - ITGA8 0 genome.wustl.edu 37 10 15628630 15628630 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 15628630 15628630 C T SNP ITGA8 ENST00000378076 human ensembl 69_37n -1 known silent c.2325 p.V775 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 99 0 0.00 78 44 36.07 - - - ITIH3 0 genome.wustl.edu 37 3 52842588 52842588 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 52842588 52842588 G A SNP ITIH3 ENST00000449956 human ensembl 69_37n +1 known missense c.2564 p.R855K 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 61 0 0.00 30 22 42.31 - - - ITPKC 0 genome.wustl.edu 37 19 41223287 41223287 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 41223287 41223287 G A SNP ITPKC ENST00000263370 human ensembl 69_37n +1 known missense c.247 p.E83K 0.001 NULL pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 14 0 0.00 1 4 80.00 - - - ITPR3 0 genome.wustl.edu 37 6 33656491 33656491 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 33656491 33656491 C T SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known silent c.6627 p.F2209 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 110 0 0.00 57 25 30.49 - - - IWS1 0 genome.wustl.edu 37 2 128244195 128244195 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 128244195 128244195 G A SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known silent c.2262 p.V754 0.766 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 175 0 0.00 56 27 32.53 - - - JMJD1C 0 genome.wustl.edu 37 10 64958426 64958426 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 64958426 64958426 C G SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.5338 p.D1780H 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 48 0 0.00 83 52 38.52 - - - JMJD1C 0 genome.wustl.edu 37 10 64966922 64966922 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 64966922 64966922 C T SNP JMJD1C ENST00000399262 human ensembl 69_37n -1 known missense c.4507 p.E1503K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 38 0 0.00 51 40 43.96 - - - KALRN 0 genome.wustl.edu 37 3 124165622 124165622 + Missense_Mutation SNP A A T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 124165622 124165622 A T SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.3436 p.I1146F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 90 0 0.00 24 17 41.46 - - - KAT6A 0 genome.wustl.edu 37 8 41906162 41906162 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 41906162 41906162 C G SNP KAT6A ENST00000265713 human ensembl 69_37n -1 known missense c.334 p.E112Q 1.000 smart_Histone_H1/H5 pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 69 0 0.00 85 57 40.14 - - - KCNC1 0 genome.wustl.edu 37 11 17793649 17793649 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 17793649 17793649 C T SNP KCNC1 ENST00000265969 human ensembl 69_37n +1 known silent c.1008 p.H336 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 48 0 0.00 14 6 30.00 - - - KCNC2 0 genome.wustl.edu 37 12 75444403 75444403 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 75444403 75444403 C T SNP KCNC2 ENST00000549446 human ensembl 69_37n -1 known missense c.1382 p.G461E 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 70 0 0.00 49 27 35.53 - - - KCNF1 0 genome.wustl.edu 37 2 11053362 11053362 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 11053362 11053362 C T SNP KCNF1 ENST00000295082 human ensembl 69_37n +1 known silent c.810 p.L270 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 17 0 0.00 10 7 41.18 - - - KCNH7 0 genome.wustl.edu 37 2 163291796 163291796 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 163291796 163291796 G A SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known silent c.1866 p.F622 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 118 0 0.00 94 58 38.16 - - - KCNK18 0 genome.wustl.edu 37 10 118969418 118969418 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 118969418 118969418 G C SNP KCNK18 ENST00000334549 human ensembl 69_37n +1 known missense c.763 p.E255Q 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 97 0 0.00 24 53 68.83 - - - KCNK2 0 genome.wustl.edu 37 1 215408414 215408414 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 215408414 215408414 G A SNP KCNK2 ENST00000444842 human ensembl 69_37n +1 known missense c.1207 p.E403K 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 114 0 0.00 89 37 29.37 - - - KDM3A 0 genome.wustl.edu 37 2 86705067 86705067 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 86705067 86705067 C G SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known missense c.2007 p.I669M 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 209 0 0.00 114 74 39.15 - - - KDM3B 0 genome.wustl.edu 37 5 137759772 137759772 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 137759772 137759772 G C SNP KDM3B ENST00000314358 human ensembl 69_37n +1 known missense c.3981 p.K1327N 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 17 0 0.00 32 17 34.69 - - - KDM4D 0 genome.wustl.edu 37 11 94730615 94730615 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 94730615 94730615 G A SNP KDM4D ENST00000335080 human ensembl 69_37n +1 known missense c.79 p.E27K 1.000 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 56 0 0.00 50 19 27.54 - - - KDM5A 0 genome.wustl.edu 37 12 465607 465607 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 465607 465607 C G SNP KDM5A ENST00000399788 human ensembl 69_37n -1 known missense c.769 p.D257H 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 82 0 0.00 99 71 41.76 - - - KIAA0100 0 genome.wustl.edu 37 17 26964013 26964013 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 26964013 26964013 G A SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known silent c.1947 p.I649 0.999 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 47 0 0.00 31 16 34.04 - - - KIAA0586 0 genome.wustl.edu 37 14 58909503 58909503 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 58909503 58909503 C G SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known missense c.445 p.Q149E 0.260 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 54 0 0.00 45 22 32.84 - - - KIAA0754 0 genome.wustl.edu 37 1 39877855 39877855 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 39877855 39877855 G C SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.1510 p.E504Q 0.990 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 90 0 0.00 88 39 30.71 - - - KIAA0947 0 genome.wustl.edu 37 5 5464767 5464767 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 5464767 5464767 C G SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.5320 p.Q1774E 0.998 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 37 0 0.00 22 11 33.33 - - - KIAA1210 0 genome.wustl.edu 37 X 118221557 118221557 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 118221557 118221557 C G SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.3636 p.K1212N 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 50 0 0.00 26 20 43.48 - - - KIAA1239 0 genome.wustl.edu 37 4 37447191 37447191 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 37447191 37447191 G C SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.3581 p.S1194T 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 13 0 0.00 11 12 52.17 - - - KIAA1239 0 genome.wustl.edu 37 4 37448426 37448426 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 37448426 37448426 G A SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.4816 p.D1606N 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 35 0 0.00 20 39 66.10 - - - KIAA1549L 0 genome.wustl.edu 37 11 33566596 33566596 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 33566596 33566596 G C SNP KIAA1549L ENST00000526400 human ensembl 69_37n +1 putative missense c.359 p.R120P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA1549L HGNC ENSG00000110427 78 0 0.00 45 27 37.50 - - - KIAA1614 0 genome.wustl.edu 37 1 180904891 180904891 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 180904891 180904891 G A SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known missense c.1846 p.D616N 0.206 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 14 0 0.00 13 4 23.53 - - - KIAA1614 0 genome.wustl.edu 37 1 180910280 180910280 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 180910280 180910280 G C SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known silent c.3018 p.L1006 0.986 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 21 0 0.00 13 6 31.58 - - - KIAA1731 0 genome.wustl.edu 37 11 93460466 93460466 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 93460466 93460466 G C SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.6824 p.R2275T 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 46 0 0.00 42 26 38.24 - - - KIAA2018 0 genome.wustl.edu 37 3 113377063 113377063 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 113377063 113377063 C T SNP KIAA2018 ENST00000316407 human ensembl 69_37n -1 known missense c.3466 p.D1156N 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors KIAA2018 HGNC ENSG00000176542 85 0 0.00 88 33 27.27 - - - KIAA2022 0 genome.wustl.edu 37 X 73963609 73963609 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 73963609 73963609 G A SNP KIAA2022 ENST00000055682 human ensembl 69_37n -1 known silent c.783 p.F261 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 129 0 0.00 69 49 41.53 - - - KIAA2026 0 genome.wustl.edu 37 9 5969267 5969267 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 5969267 5969267 C G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.964 p.E322Q 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 51 0 0.00 19 32 61.54 - - - KIF13A 0 genome.wustl.edu 37 6 17781527 17781527 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 17781527 17781527 C G SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.3550 p.D1184H 1.000 pfam_Kinesin-like 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 37 0 0.00 9 10 52.63 - - - KIF27 0 genome.wustl.edu 37 9 86518066 86518066 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 86518066 86518066 G C SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known nonsense c.1367 p.S456* 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 91 0 0.00 63 45 41.28 - - - KLHL12 0 genome.wustl.edu 37 1 202894213 202894213 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 202894213 202894213 G C SNP KLHL12 ENST00000435533 human ensembl 69_37n -1 known silent c.192 p.L64 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL12 HGNC ENSG00000117153 59 0 0.00 89 40 31.01 - - - KLHL14 0 genome.wustl.edu 37 18 30260213 30260213 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 30260213 30260213 C G SNP KLHL14 ENST00000359358 human ensembl 69_37n -1 known missense c.1507 p.D503H 1.000 pfam_Kelch_1,smart_Kelch_1,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 KLHL14 HGNC ENSG00000197705 85 0 0.00 33 63 65.62 - - - KLHL25 0 genome.wustl.edu 37 15 86312361 86312361 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 86312361 86312361 G C SNP KLHL25 ENST00000337975 human ensembl 69_37n -1 known silent c.681 p.V227 0.006 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 17 0 0.00 8 5 38.46 - - - KRIT1 0 genome.wustl.edu 37 7 91864902 91864902 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 91864902 91864902 G C SNP KRIT1 ENST00000340022 human ensembl 69_37n -1 known missense c.544 p.P182A 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 89 0 0.00 94 65 40.88 - - - KRT121P 0 genome.wustl.edu 37 12 52646134 52646134 + RNA SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 52646134 52646134 G C SNP KRT121P ENST00000529785 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 90 0 0.00 41 19 31.67 - - - KRTAP21-1 0 genome.wustl.edu 37 21 32127476 32127476 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 32127476 32127476 C G SNP KRTAP21-1 ENST00000335093 human ensembl 69_37n -1 known missense c.221 p.R74T 0.964 NULL NULL - no_errors KRTAP21-1 HGNC ENSG00000187005 168 0 0.00 21 106 83.46 - - - KRTAP8-1 0 genome.wustl.edu 37 21 32185355 32185355 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 32185355 32185355 G C SNP KRTAP8-1 ENST00000329621 human ensembl 69_37n -1 known missense c.184 p.L62V 0.616 NULL pfam_KRTAP - no_errors KRTAP8-1 HGNC ENSG00000183640 76 0 0.00 3 42 93.33 - - - L3MBTL2 0 genome.wustl.edu 37 22 41613161 41613161 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 41613161 41613161 G A SNP L3MBTL2 ENST00000449635 human ensembl 69_37n +1 known missense c.397 p.E133K 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt - no_start_codon:pseudogene:no_stop_codon L3MBTL2 HGNC ENSG00000100395 47 0 0.00 31 21 40.38 - - - LAMP2 0 genome.wustl.edu 37 X 119575637 119575637 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 119575637 119575637 G T SNP LAMP2 ENST00000486593 human ensembl 69_37n -1 known missense c.584 p.P195H 0.993 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LAMP2 HGNC ENSG00000005893 121 0 0.00 63 40 38.83 - - - LCK 0 genome.wustl.edu 37 1 32751206 32751206 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 32751206 32751206 G A SNP LCK ENST00000333070 human ensembl 69_37n +1 known missense c.1509 p.M503I 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 28 0 0.00 39 13 25.00 - - - LEAP2 0 genome.wustl.edu 37 5 132209725 132209725 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 132209725 132209725 C T SNP LEAP2 ENST00000296877 human ensembl 69_37n +1 known silent c.141 p.L47 0.996 pfam_LEAP-2 pfam_LEAP-2 - no_errors LEAP2 HGNC ENSG00000164406 32 0 0.00 8 22 73.33 - - - LMAN2 0 genome.wustl.edu 37 5 176764139 176764139 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 176764139 176764139 G A SNP LMAN2 ENST00000303127 human ensembl 69_37n -1 known missense c.788 p.S263F 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl pfam_Lectin_leg,superfamily_ConA-like_lec_gl - no_errors LMAN2 HGNC ENSG00000169223 27 0 0.00 17 8 32.00 - - - LMTK2 0 genome.wustl.edu 37 7 97833436 97833436 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 97833436 97833436 C G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known missense c.4421 p.S1474C 1.000 NULL 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 LMTK2 HGNC ENSG00000164715 29 0 0.00 35 31 46.97 - - - LOXHD1 0 genome.wustl.edu 37 18 44113241 44113241 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 44113241 44113241 G C SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.4259 p.S1420C 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 111 0 0.00 12 27 69.23 - - - LPA 0 genome.wustl.edu 37 6 161022015 161022015 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 161022015 161022015 C G SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.3061 p.E1021Q 0.000 superfamily_Kringle-like pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 77 0 0.00 47 35 42.68 - - - LRCH2 0 genome.wustl.edu 37 X 114400482 114400482 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 114400482 114400482 G C SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.1120 p.Q374E 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 143 1 0.69 100 35 25.93 - - - LRCH2 0 genome.wustl.edu 37 X 114422891 114422891 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 114422891 114422891 C T SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known nonsense c.392 p.W131* 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 32 0 0.00 53 23 30.26 - - - LRCH3 0 genome.wustl.edu 37 3 197544069 197544069 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 197544069 197544069 C T SNP LRCH3 ENST00000438796 human ensembl 69_37n +1 known missense c.430 p.P144S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 79 0 0.00 56 38 40.43 - - - LRIF1 0 genome.wustl.edu 37 1 111494410 111494410 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 111494410 111494410 G A SNP LRIF1 ENST00000369763 human ensembl 69_37n -1 known silent c.1096 p.L366 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 66 0 0.00 35 25 41.67 - - - LRIG2 0 genome.wustl.edu 37 1 113650363 113650363 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 113650363 113650363 G C SNP LRIG2 ENST00000361127 human ensembl 69_37n +1 known silent c.1461 p.L487 0.996 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 39 0 0.00 42 31 42.47 - - - LRIT3 0 genome.wustl.edu 37 4 110772999 110772999 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 110772999 110772999 G C SNP LRIT3 ENST00000379920 human ensembl 69_37n +1 known silent c.321 p.L107 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT3 HGNC ENSG00000183423 54 0 0.00 50 22 30.56 - - - LRP5 0 genome.wustl.edu 37 11 68157416 68157416 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 68157416 68157416 C T SNP LRP5 ENST00000294304 human ensembl 69_37n +1 known missense c.1480 p.R494W 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 71 0 0.00 50 42 45.16 - - - LRRC41 0 genome.wustl.edu 37 1 46751338 46751338 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 46751338 46751338 C G SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.1191 p.K397N 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 85 0 0.00 34 8 19.05 - - - LRRC48 0 genome.wustl.edu 37 17 17887182 17887182 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 17887182 17887182 G C SNP LRRC48 ENST00000313838 human ensembl 69_37n +1 known missense c.201 p.L67F 0.960 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 62 0 0.00 23 30 56.60 - - - LRRC7 0 genome.wustl.edu 37 1 70460285 70460285 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 70460285 70460285 C G SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known missense c.859 p.Q287E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 67 0 0.00 59 37 38.54 - - - LRRC8A 0 genome.wustl.edu 37 9 131670664 131670664 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 131670664 131670664 C T SNP LRRC8A ENST00000259324 human ensembl 69_37n +1 known silent c.1221 p.L407 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 28 0 0.00 25 15 37.50 - - - LRRTM4 0 genome.wustl.edu 37 2 77745755 77745755 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 77745755 77745755 C T SNP LRRTM4 ENST00000409911 human ensembl 69_37n -1 known missense c.1243 p.E415K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 109 0 0.00 78 57 42.22 - - - LRSAM1 0 genome.wustl.edu 37 9 130223478 130223478 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 130223478 130223478 G C SNP LRSAM1 ENST00000300417 human ensembl 69_37n +1 known silent c.348 p.L116 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 30 0 0.00 24 18 42.86 - - - LTBP1 0 genome.wustl.edu 37 2 33482404 33482404 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 33482404 33482404 C T SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.2221 p.H741Y 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 36 0 0.00 49 31 38.75 - - - LTF 0 genome.wustl.edu 37 3 46496919 46496919 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 46496919 46496919 G C SNP LTF ENST00000231751 human ensembl 69_37n -1 known missense c.513 p.F171L 1.000 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors LTF HGNC ENSG00000012223 94 0 0.00 33 14 29.79 - - - LYSMD1 0 genome.wustl.edu 37 1 151133480 151133480 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 151133480 151133480 C T SNP LYSMD1 ENST00000368908 human ensembl 69_37n -1 known missense c.562 p.A188T 0.009 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD1 HGNC ENSG00000163155 90 0 0.00 36 11 23.40 - - - LYSMD3 0 genome.wustl.edu 37 5 89821016 89821016 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 89821016 89821016 C G SNP LYSMD3 ENST00000315948 human ensembl 69_37n -1 known missense c.91 p.D31H 0.997 NULL pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr - no_errors LYSMD3 HGNC ENSG00000176018 77 0 0.00 146 67 31.46 - - - LZTS1 0 genome.wustl.edu 37 8 20110692 20110692 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 20110692 20110692 C T SNP LZTS1 ENST00000265801 human ensembl 69_37n -1 known silent c.750 p.S250 0.001 NULL pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 17 0 0.00 9 4 30.77 - - - MAGED1 0 genome.wustl.edu 37 X 51638769 51638769 + Frame_Shift_Del DEL C C - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 51638769 51638769 C - DEL MAGED1 ENST00000375695 human ensembl 69_37n +1 known frame_shift_del c.834 p.D278fs 0.996 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 25 0 0.00 10 9 45.00 - - - MAGI1 0 genome.wustl.edu 37 3 65349277 65349277 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 65349277 65349277 C G SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.3358 p.D1120H 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 23 0 0.00 24 10 29.41 - - - MAGT1 0 genome.wustl.edu 37 X 77084726 77084726 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 77084726 77084726 C T SNP MAGT1 ENST00000358075 human ensembl 69_37n -1 known silent c.1095 p.L365 1.000 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 76 0 0.00 120 75 38.46 - - - MAMDC2 0 genome.wustl.edu 37 9 72746489 72746489 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 72746489 72746489 G A SNP MAMDC2 ENST00000377182 human ensembl 69_37n +1 known missense c.955 p.D319N 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 325 0 0.00 166 97 36.88 - - - MANBA 0 genome.wustl.edu 37 4 103578871 103578871 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 103578871 103578871 G A SNP MANBA ENST00000226578 human ensembl 69_37n -1 known nonsense c.1672 p.Q558* 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 76 0 0.00 43 66 60.55 - - - MAP3K5 0 genome.wustl.edu 37 6 136934281 136934281 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 136934281 136934281 G A SNP MAP3K5 ENST00000359015 human ensembl 69_37n -1 known nonsense c.2392 p.Q798* 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,prints_Ser-Thr/Tyr_kinase_cat_dom 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 103 0 0.00 98 57 36.77 - - - MAP4K4 0 genome.wustl.edu 37 2 102441849 102441849 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 102441849 102441849 C T SNP MAP4K4 ENST00000324219 human ensembl 69_37n +1 known silent c.375 p.L125 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC ENSG00000071054 142 0 0.00 65 47 41.96 - - - MAP9 0 genome.wustl.edu 37 4 156281331 156281331 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 156281331 156281331 C T SNP MAP9 ENST00000311277 human ensembl 69_37n -1 known missense c.1039 p.A347T 0.001 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 103 0 0.00 24 40 62.50 - - - MARCH5 0 genome.wustl.edu 37 10 94070920 94070920 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 94070920 94070920 G A SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.64 p.E22K 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 74 0 0.00 48 36 42.86 - - - MARCH5 0 genome.wustl.edu 37 10 94070926 94070926 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 94070926 94070926 G C SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.70 p.D24H 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 74 0 0.00 58 29 33.33 - - - MARCH5 0 genome.wustl.edu 37 10 94071041 94071041 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 94071041 94071041 G C SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.185 p.R62T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 50 0 0.00 32 31 49.21 - - - MAS1L 0 genome.wustl.edu 37 6 29454978 29454978 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 29454978 29454978 G C SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known missense c.702 p.I234M 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 12 0 0.00 24 25 51.02 - - - MAST2 0 genome.wustl.edu 37 1 46494578 46494578 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 46494578 46494578 G C SNP MAST2 ENST00000361297 human ensembl 69_37n +1 known missense c.2191 p.E731Q 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST2 HGNC ENSG00000086015 170 0 0.00 148 72 32.73 - - - MBD3 0 genome.wustl.edu 37 19 1582691 1582691 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 1582691 1582691 C T SNP MBD3 ENST00000156825 human ensembl 69_37n -1 known silent c.429 p.L143 0.987 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 19 0 0.00 8 6 42.86 - - - MCF2L2 0 genome.wustl.edu 37 3 182994746 182994746 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 182994746 182994746 C G SNP MCF2L2 ENST00000328913 human ensembl 69_37n -1 known splice_site c.1777-1 e15-1 1.000 - - - no_errors MCF2L2 HGNC ENSG00000053524 10 0 0.00 5 4 44.44 - - - MDM1 0 genome.wustl.edu 37 12 68707513 68707513 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 68707513 68707513 G C SNP MDM1 ENST00000303145 human ensembl 69_37n -1 known nonsense c.1520 p.S507* 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 33 0 0.00 23 13 36.11 - - - MDN1 0 genome.wustl.edu 37 6 90380739 90380739 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 90380739 90380739 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.13855 p.D4619H 0.999 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 41 0 0.00 18 12 40.00 - - - ME2 0 genome.wustl.edu 37 18 48458669 48458669 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 48458669 48458669 G A SNP ME2 ENST00000321341 human ensembl 69_37n +1 known silent c.1356 p.V452 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 80 0 0.00 32 58 64.44 - - - ME3 0 genome.wustl.edu 37 11 86198464 86198464 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 86198464 86198464 G C SNP ME3 ENST00000359636 human ensembl 69_37n -1 known missense c.724 p.L242V 0.990 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 81 0 0.00 30 17 36.17 - - - MECOM 0 genome.wustl.edu 37 3 168845834 168845834 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 168845834 168845834 G A SNP MECOM ENST00000494292 human ensembl 69_37n -1 known missense c.628 p.R210C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 50 0 0.00 35 17 32.69 - - - MEGF11 0 genome.wustl.edu 37 15 66206157 66206157 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 66206157 66206157 C G SNP MEGF11 ENST00000409699 human ensembl 69_37n -1 known missense c.2628 p.Q876H 0.999 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 51 0 0.00 20 14 41.18 - - - MEIS2 0 genome.wustl.edu 37 15 37390168 37390168 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 37390168 37390168 C T SNP MEIS2 ENST00000561208 human ensembl 69_37n -1 known missense c.245 p.G82E 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC ENSG00000134138 25 0 0.00 15 8 34.78 - - - MFAP1 0 genome.wustl.edu 37 15 44105533 44105533 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 44105533 44105533 C G SNP MFAP1 ENST00000267812 human ensembl 69_37n -1 known missense c.640 p.E214Q 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 134 0 0.00 114 97 45.97 - - - MFSD9 0 genome.wustl.edu 37 2 103353179 103353179 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 103353179 103353179 C T SNP MFSD9 ENST00000258436 human ensembl 69_37n -1 known missense c.91 p.E31K 0.005 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG,pfscan_MFS_dom - no_errors MFSD9 HGNC ENSG00000135953 11 0 0.00 9 6 40.00 - - - MGEA5 0 genome.wustl.edu 37 10 103552685 103552685 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 103552685 103552685 C G SNP MGEA5 ENST00000361464 human ensembl 69_37n -1 known missense c.2086 p.D696H 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 43 0 0.00 70 51 41.80 - - - MIOS 0 genome.wustl.edu 37 7 7612672 7612672 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 7612672 7612672 C G SNP MIOS ENST00000340080 human ensembl 69_37n +1 known missense c.566 p.S189C 1.000 smart_WD40_repeat smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 15 0 0.00 27 30 52.63 - - - MIR555 0 genome.wustl.edu 37 1 155316158 155316158 + RNA SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 155316158 155316158 C G SNP MIR555 ENST00000384987 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR555 HGNC ENSG00000207720 84 0 0.00 98 35 26.32 - - - MIR611 0 genome.wustl.edu 37 11 61559992 61559992 + RNA SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 61559992 61559992 C T SNP MIR611 ENST00000384869 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MIR611 HGNC ENSG00000207601 13 0 0.00 11 15 57.69 - - - MIS18BP1 0 genome.wustl.edu 37 14 45716461 45716461 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 45716461 45716461 C G SNP MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known missense c.29 p.R10T 0.771 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 36 0 0.00 37 28 43.08 - - - MLL4 0 genome.wustl.edu 37 19 36211394 36211397 + Frame_Shift_Del DEL AAGA AAGA - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 36211394 36211397 AAGA - DEL MLL4 ENST00000222270 human ensembl 69_37n +1 known frame_shift_del c.1145_1148 p.R384fs 0.894:0.905:0.903:0.785 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 9 0 0.00 7 5 41.67 - - - MLL5 0 genome.wustl.edu 37 7 104681467 104681467 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 104681467 104681467 C G SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known nonsense c.68 p.S23* 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 42 0 0.00 33 18 35.29 - - - MLLT10 0 genome.wustl.edu 37 10 21906127 21906128 + Frame_Shift_Del DEL AG AG - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 21906127 21906128 AG - DEL MLLT10 ENST00000307729 human ensembl 69_37n +1 known frame_shift_del c.690_691 p.K234fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 53 0 0.00 36 14 28.00 - - - MLXIP 0 genome.wustl.edu 37 12 122517133 122517133 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 122517133 122517133 C G SNP MLXIP ENST00000319080 human ensembl 69_37n +1 known missense c.374 p.S125W 0.995 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MLXIP HGNC ENSG00000175727 16 0 0.00 12 11 47.83 - - - MMP15 0 genome.wustl.edu 37 16 58074441 58074441 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 58074441 58074441 G A SNP MMP15 ENST00000219271 human ensembl 69_37n +1 known missense c.749 p.G250E 1.000 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC ENSG00000102996 22 0 0.00 15 12 44.44 - - - MMS19 0 genome.wustl.edu 37 10 99237135 99237135 + Silent SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 99237135 99237135 G T SNP MMS19 ENST00000370782 human ensembl 69_37n -1 known silent c.462 p.I154 1.000 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 95 0 0.00 105 44 29.53 - - - MR1 0 genome.wustl.edu 37 1 181003208 181003208 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 181003208 181003208 C T SNP MR1 ENST00000367580 human ensembl 69_37n +1 known missense c.65 p.S22F 0.267 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like - no_errors MR1 HGNC ENSG00000153029 43 0 0.00 74 28 27.45 - - - MRC2 0 genome.wustl.edu 37 17 60767008 60767008 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 60767008 60767008 G A SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known missense c.3460 p.E1154K 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 8 0 0.00 6 4 40.00 - - - MRGPRF 0 genome.wustl.edu 37 11 68773715 68773715 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 68773715 68773715 C T SNP MRGPRF ENST00000309099 human ensembl 69_37n -1 known silent c.63 p.L21 0.001 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 16 0 0.00 7 5 41.67 - - - MRPL13 0 genome.wustl.edu 37 8 121455458 121455458 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 121455458 121455458 G C SNP MRPL13 ENST00000306185 human ensembl 69_37n -1 known missense c.118 p.Q40E 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type - no_errors MRPL13 HGNC ENSG00000172172 86 0 0.00 42 37 46.84 - - - MRPL47 0 genome.wustl.edu 37 3 179319550 179319550 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 179319550 179319550 C G SNP MRPL47 ENST00000476781 human ensembl 69_37n -1 known missense c.273 p.R91S 1.000 pfam_Ribosomal_L47_mit pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 111 0 0.00 116 48 29.27 - - - MTCH2 0 genome.wustl.edu 37 11 47648668 47648668 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 47648668 47648668 C G SNP MTCH2 ENST00000302503 human ensembl 69_37n -1 known missense c.645 p.M215I 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 45 0 0.00 89 44 33.08 - - - MTHFD1L 0 genome.wustl.edu 37 6 151206858 151206858 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 151206858 151206858 C G SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.631 p.L211V 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 67 0 0.00 75 71 48.63 - - - MTPAP 0 genome.wustl.edu 37 10 30653342 30653342 + RNA SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 30653342 30653342 G C SNP MTPAP ENST00000471055 human ensembl 69_37n -1 known rna NULL NULL 0.959 - - - no_errors MTPAP HGNC ENSG00000107951 40 0 0.00 22 17 43.59 - - - MTRR 0 genome.wustl.edu 37 5 7883323 7883323 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 7883323 7883323 C G SNP MTRR ENST00000264668 human ensembl 69_37n +1 known nonsense c.917 p.S306* 0.951 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin,pfscan_Flavodoxin/NO_synth - no_errors MTRR HGNC ENSG00000124275 89 0 0.00 50 28 35.90 - - - MUC16 0 genome.wustl.edu 37 19 9070790 9070790 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 9070790 9070790 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.16656 p.F5552L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 245 0 0.00 210 123 36.83 - - - MUC17 0 genome.wustl.edu 37 7 100686956 100686956 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 100686956 100686956 G C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.12259 p.E4087Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 82 0 0.00 156 91 36.69 - - - MUC4 0 genome.wustl.edu 37 3 195508239 195508239 + Silent SNP A A G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 195508239 195508239 A G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.10212 p.G3404 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 13 0 0.00 258 111 30.00 - - - MUSK 0 genome.wustl.edu 37 9 113550161 113550161 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 113550161 113550161 G A SNP MUSK ENST00000374438 human ensembl 69_37n +1 known missense c.518 p.R173K 0.001 pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 12 0 0.00 10 4 28.57 - - - MXRA5 0 genome.wustl.edu 37 X 3236006 3236006 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 3236006 3236006 C G SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.5716 p.E1906Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 14 0 0.00 4 4 50.00 - - - MYCBP2 0 genome.wustl.edu 37 13 77779677 77779677 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 77779677 77779677 C G SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.3646 p.E1216Q 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 145 0 0.00 38 46 54.76 - - - MYH11 0 genome.wustl.edu 37 16 15818513 15818513 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 15818513 15818513 G C SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known silent c.4128 p.L1376 0.989 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 101 0 0.00 18 12 40.00 - - - MYH11 0 genome.wustl.edu 37 16 15853444 15853444 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 15853444 15853444 C T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known missense c.1411 p.E471K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 76 0 0.00 54 39 41.94 - - - MYH13 0 genome.wustl.edu 37 17 10233724 10233724 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 10233724 10233724 G C SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.2415 p.F805L 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 86 0 0.00 32 48 60.00 - - - MYH7B 0 genome.wustl.edu 37 20 33584937 33584937 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 33584937 33584937 C G SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel silent c.3444 p.L1148 0.919 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 12 0 0.00 6 4 40.00 - - - MYH9 0 genome.wustl.edu 37 22 36697607 36697607 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 36697607 36697607 G C SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known silent c.2604 p.L868 0.399 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 59 0 0.00 47 35 42.68 - - - MYL6 0 genome.wustl.edu 37 12 56554074 56554074 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 56554074 56554074 G C SNP MYL6 ENST00000547649 human ensembl 69_37n +1 known missense c.397 p.E133Q 1.000 smart_EF_hand_Ca-bd smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL6 HGNC ENSG00000092841 82 0 0.00 36 26 41.94 - - - MYO10 0 genome.wustl.edu 37 5 16670782 16670782 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 16670782 16670782 C G SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.5736 p.W1912C 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 38 0 0.00 38 20 34.48 - - - MYO16 0 genome.wustl.edu 37 13 109496803 109496803 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 109496803 109496803 G C SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.1144 p.E382Q 0.428 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 69 0 0.00 21 17 44.74 - - - MYO18B 0 genome.wustl.edu 37 22 26422843 26422843 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 26422843 26422843 C G SNP MYO18B ENST00000543971 human ensembl 69_37n +1 novel missense c.752 p.S251C 0.663 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYO18B HGNC ENSG00000133454 16 0 0.00 7 6 46.15 - - - MYO3B 0 genome.wustl.edu 37 2 171242759 171242759 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 171242759 171242759 C T SNP MYO3B ENST00000334231 human ensembl 69_37n +1 known nonsense c.1378 p.Q460* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 95 0 0.00 64 43 40.19 - - - MYO3B 0 genome.wustl.edu 37 2 171243683 171243683 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 171243683 171243683 C G SNP MYO3B ENST00000334231 human ensembl 69_37n +1 known nonsense c.1469 p.S490* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 59 0 0.00 43 28 38.89 - - - MYO5A 0 genome.wustl.edu 37 15 52646094 52646094 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 52646094 52646094 C A SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known nonsense c.3541 p.E1181* 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 68 0 0.00 32 18 36.00 - - - MYO5C 0 genome.wustl.edu 37 15 52574997 52574997 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 52574997 52574997 G C SNP MYO5C ENST00000261839 human ensembl 69_37n -1 known silent c.120 p.L40 0.014 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,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 MYO5C HGNC ENSG00000128833 50 0 0.00 52 31 37.35 - - - NAA25 0 genome.wustl.edu 37 12 112492275 112492275 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 112492275 112492275 G C SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known missense c.1545 p.I515M 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 39 0 0.00 42 13 23.64 - - - NAALAD2 0 genome.wustl.edu 37 11 89907016 89907016 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 89907016 89907016 G C SNP NAALAD2 ENST00000534061 human ensembl 69_37n +1 known missense c.1435 p.E479Q 0.996 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 62 0 0.00 79 45 36.29 - - - NAIF1 0 genome.wustl.edu 37 9 130829249 130829249 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 130829249 130829249 C G SNP NAIF1 ENST00000373078 human ensembl 69_37n -1 known missense c.132 p.K44N 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 8 0 0.00 10 6 37.50 - - - NAP1L2 0 genome.wustl.edu 37 X 72433719 72433719 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 72433719 72433719 C T SNP NAP1L2 ENST00000373517 human ensembl 69_37n -1 known missense c.610 p.E204K 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 116 0 0.00 111 47 29.75 - - - NAPSB 0 genome.wustl.edu 37 19 50838330 50838330 + RNA SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 50838330 50838330 C T SNP NAPSB ENST00000527780 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors NAPSB HGNC ENSG00000131401 42 0 0.00 10 19 65.52 - - - NAV1 0 genome.wustl.edu 37 1 201752734 201752734 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 201752734 201752734 C G SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known nonsense c.2558 p.S853* 0.999 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 103 0 0.00 49 15 23.44 - - - NBEAL1 0 genome.wustl.edu 37 2 204016194 204016194 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 204016194 204016194 G A SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known silent c.5382 p.Q1794 0.988 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 51 0 0.00 45 27 37.50 - - - NBPF10 0 genome.wustl.edu 37 1 145299869 145299869 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 145299869 145299869 C T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known silent c.918 p.F306 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 183 0 0.00 335 71 17.49 - - - NBPF20 0 genome.wustl.edu 37 1 148251962 148251962 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 148251962 148251962 G A SNP NBPF20 ENST00000369202 human ensembl 69_37n -1 known silent c.13779 p.F4593 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 256 0 0.00 326 115 26.02 - - - NBPF22P 0 genome.wustl.edu 37 5 85592223 85592223 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 85592223 85592223 G A SNP NBPF22P ENST00000590707 human ensembl 69_37n +1 known rna NULL NULL 0.042 - - - no_errors NBPF22P HGNC ENSG00000205449 110 0 0.00 124 75 37.69 - - - NCK2 0 genome.wustl.edu 37 2 106497971 106497971 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 106497971 106497971 C T SNP NCK2 ENST00000233154 human ensembl 69_37n +1 known silent c.414 p.V138 0.998 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 24 0 0.00 12 16 57.14 - - - NCOR1 0 genome.wustl.edu 37 17 15983797 15983797 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 15983797 15983797 C T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.3325 p.E1109K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 105 0 0.00 27 56 67.47 - - - NDST1 0 genome.wustl.edu 37 5 149924919 149924919 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 149924919 149924919 C G SNP NDST1 ENST00000261797 human ensembl 69_37n +1 known missense c.2016 p.F672L 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST1 HGNC ENSG00000070614 25 0 0.00 42 14 24.56 - - - NDUFV3 0 genome.wustl.edu 37 21 44329106 44329106 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 44329106 44329106 C G SNP NDUFV3 ENST00000354250 human ensembl 69_37n +1 known nonsense c.1397 p.S466* 0.996 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 50 0 0.00 25 86 77.48 - - - NES 0 genome.wustl.edu 37 1 156645031 156645031 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 156645031 156645031 G A SNP NES ENST00000368223 human ensembl 69_37n -1 known silent c.885 p.L295 0.980 pfam_F pfam_F - no_errors NES HGNC ENSG00000132688 25 0 0.00 22 9 29.03 - - - NEUROD6 0 genome.wustl.edu 37 7 31378815 31378815 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 31378815 31378815 C G SNP NEUROD6 ENST00000297142 human ensembl 69_37n -1 known missense c.68 p.R23T 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd - no_errors NEUROD6 HGNC ENSG00000164600 268 0 0.00 84 47 35.88 - - - NFIA 0 genome.wustl.edu 37 1 61818161 61818161 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 61818161 61818161 C T SNP NFIA ENST00000371189 human ensembl 69_37n +1 known missense c.875 p.S292L 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 75 0 0.00 54 36 40.00 - - - NFX1 0 genome.wustl.edu 37 9 33328583 33328583 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 33328583 33328583 C G SNP NFX1 ENST00000379540 human ensembl 69_37n +1 known missense c.1911 p.F637L 1.000 pfam_Znf_NFX1,smart_Znf_NFX1 pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 199 0 0.00 43 83 65.35 - - - NIN 0 genome.wustl.edu 37 14 51204902 51204902 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 51204902 51204902 C G SNP NIN ENST00000245441 human ensembl 69_37n -1 known missense c.5731 p.E1911Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 179 0 0.00 140 93 39.91 - - - NIP7 0 genome.wustl.edu 37 16 69374200 69374200 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 69374200 69374200 G C SNP NIP7 ENST00000254940 human ensembl 69_37n +1 known missense c.247 p.V83L 0.991 pfam_Rbsml_synth_fac_NIP7-like,pirsf_Ribosomal_synth_fac_NIP7 pfam_Rbsml_synth_fac_NIP7-like,superfamily_PUA-like_domain,smart_PUA,pirsf_Ribosomal_synth_fac_NIP7,pfscan_PUA - no_errors NIP7 HGNC ENSG00000132603 27 0 0.00 45 34 43.04 - - - NKAIN1 0 genome.wustl.edu 37 1 31656838 31656838 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 31656838 31656838 G A SNP NKAIN1 ENST00000526106 human ensembl 69_37n -1 novel missense c.128 p.S43L 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NKAIN1 HGNC ENSG00000084628 63 0 0.00 14 25 64.10 - - - NKAP 0 genome.wustl.edu 37 X 119059264 119059264 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 119059264 119059264 C G SNP NKAP ENST00000371410 human ensembl 69_37n -1 known missense c.1167 p.E389D 1.000 pfam_DUF926 pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 94 0 0.00 131 88 40.18 - - - NLRX1 0 genome.wustl.edu 37 11 119044705 119044705 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 119044705 119044705 C T SNP NLRX1 ENST00000292199 human ensembl 69_37n +1 known silent c.747 p.L249 0.079 pfscan_NACHT_NTPase smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 68 0 0.00 14 27 65.85 - - - NMT2 0 genome.wustl.edu 37 10 15151762 15151762 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 15151762 15151762 C G SNP NMT2 ENST00000378143 human ensembl 69_37n -1 known missense c.1508 p.G503A 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 43 0 0.00 73 50 40.65 - - - NOD1 0 genome.wustl.edu 37 7 30472788 30472788 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 30472788 30472788 G C SNP NOD1 ENST00000222823 human ensembl 69_37n -1 known missense c.2629 p.Q877E 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 59 0 0.00 72 41 36.28 - - - NOP14 0 genome.wustl.edu 37 4 2955258 2955258 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 2955258 2955258 C G SNP NOP14 ENST00000416614 human ensembl 69_37n -1 known missense c.727 p.D243H 0.018 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 92 0 0.00 59 96 61.94 - - - NOX4 0 genome.wustl.edu 37 11 89075298 89075298 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 89075298 89075298 G A SNP NOX4 ENST00000413594 human ensembl 69_37n -1 known silent c.1344 p.L448 0.990 pfam_Fe_red_NAD-bd_6 pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 45 0 0.00 33 19 36.54 - - - NOXO1 0 genome.wustl.edu 37 16 2030976 2030976 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 2030976 2030976 G A SNP NOXO1 ENST00000397280 human ensembl 69_37n -1 known silent c.111 p.F37 0.000 pfam_Phox,superfamily_Phox,pfscan_Phox pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 8 0 0.00 14 4 22.22 - - - NPR1 0 genome.wustl.edu 37 1 153660668 153660668 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 153660668 153660668 G C SNP NPR1 ENST00000368680 human ensembl 69_37n +1 known missense c.2388 p.Q796H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 72 0 0.00 39 17 30.36 - - - NR1D2 0 genome.wustl.edu 37 3 24004051 24004051 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 24004051 24004051 G A SNP NR1D2 ENST00000312521 human ensembl 69_37n +1 known silent c.1101 p.E367 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 - no_errors NR1D2 HGNC ENSG00000174738 15 0 0.00 8 14 63.64 - - - NR1D2 0 genome.wustl.edu 37 3 24006542 24006542 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 24006542 24006542 G T SNP NR1D2 ENST00000312521 human ensembl 69_37n +1 known missense c.1221 p.M407I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 - no_errors NR1D2 HGNC ENSG00000174738 53 0 0.00 41 35 46.05 - - - NRCAM 0 genome.wustl.edu 37 7 107791178 107791178 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 107791178 107791178 G A SNP NRCAM ENST00000379022 human ensembl 69_37n -1 known missense c.3698 p.S1233F 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 38 0 0.00 50 28 35.90 - - - NRN1L 0 genome.wustl.edu 37 16 67920004 67920004 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 67920004 67920004 C T SNP NRN1L ENST00000339176 human ensembl 69_37n +1 known silent c.340 p.L114 0.067 NULL NULL - no_errors NRN1L HGNC ENSG00000188038 20 0 0.00 13 12 48.00 - - - NTRK2 0 genome.wustl.edu 37 9 87570324 87570324 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 87570324 87570324 C T SNP NTRK2 ENST00000277120 human ensembl 69_37n +1 known silent c.2064 p.F688 0.972 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_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 39 0 0.00 10 12 54.55 - - - NUDCD1 0 genome.wustl.edu 37 8 110305595 110305595 + Silent SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 110305595 110305595 G T SNP NUDCD1 ENST00000239690 human ensembl 69_37n -1 known silent c.618 p.V206 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD1 HGNC ENSG00000120526 74 0 0.00 50 25 33.33 - - - NUMA1 0 genome.wustl.edu 37 11 71725099 71725099 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 71725099 71725099 G C SNP NUMA1 ENST00000393695 human ensembl 69_37n -1 known silent c.3450 p.L1150 0.004 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 20 0 0.00 9 8 47.06 - - - NUP107 0 genome.wustl.edu 37 12 69126506 69126506 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 69126506 69126506 G A SNP NUP107 ENST00000229179 human ensembl 69_37n +1 known missense c.2088 p.M696I 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 34 0 0.00 54 22 28.95 - - - NXF1 0 genome.wustl.edu 37 11 62567905 62567905 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 62567905 62567905 G C SNP NXF1 ENST00000294172 human ensembl 69_37n -1 known silent c.960 p.L320 0.998 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 140 0 0.00 82 42 33.87 - - - OAS2 0 genome.wustl.edu 37 12 113425038 113425038 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 113425038 113425038 G C SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known missense c.373 p.D125H 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 43 0 0.00 43 13 23.21 - - - OBP2B 0 genome.wustl.edu 37 9 136083930 136083930 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 136083930 136083930 C G SNP OBP2B ENST00000372034 human ensembl 69_37n -1 known missense c.132 p.R44S 0.003 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth - no_errors OBP2B HGNC ENSG00000171102 166 0 0.00 20 16 43.24 - - - OBSCN 0 genome.wustl.edu 37 1 228509154 228509154 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 228509154 228509154 C G SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known nonsense c.14612 p.S4871* 0.001 smart_IQ_motif_EF-hand-BS pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 15 0 0.00 25 11 30.56 - - - ODZ3 0 genome.wustl.edu 37 4 183713521 183713521 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 183713521 183713521 G C SNP ODZ3 ENST00000406950 human ensembl 69_37n +1 known missense c.5696 p.R1899P 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ3 HGNC ENSG00000218336 45 0 0.00 8 4 33.33 - - - OGT 0 genome.wustl.edu 37 X 70787538 70787538 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 70787538 70787538 C G SNP OGT ENST00000373719 human ensembl 69_37n +1 known silent c.2778 p.L926 0.351 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 57 0 0.00 40 21 34.43 - - - OLFML2B 0 genome.wustl.edu 37 1 161967971 161967971 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 161967971 161967971 G A SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known missense c.1118 p.S373L 0.006 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 88 0 0.00 72 30 29.41 - - - OPN1MW 0 genome.wustl.edu 37 X 153461463 153461463 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 153461463 153461463 G A SNP OPN1MW ENST00000369935 human ensembl 69_37n +1 known missense c.1027 p.D343N 1.000 prints_Opsin_red/grn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin,pfscan_GPCR_Rhodpsn_supfam - no_errors OPN1MW HGNC ENSG00000147380 51 0 0.00 42 7 14.29 - - - OR10AG1 0 genome.wustl.edu 37 11 55735721 55735721 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 55735721 55735721 G C SNP OR10AG1 ENST00000312345 human ensembl 69_37n -1 known silent c.219 p.L73 0.009 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 41 0 0.00 41 29 41.43 - - - OR2C1 0 genome.wustl.edu 37 16 3406243 3406243 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 3406243 3406243 C G SNP OR2C1 ENST00000304936 human ensembl 69_37n +1 known silent c.303 p.L101 0.875 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 OR2C1 HGNC ENSG00000168158 76 0 0.00 51 33 39.29 - - - OR2T6 0 genome.wustl.edu 37 1 248551041 248551041 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 248551041 248551041 C T SNP OR2T6 ENST00000355728 human ensembl 69_37n +1 known silent c.132 p.V44 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T6 HGNC ENSG00000198104 91 0 0.00 262 94 26.33 - - - OR4E2 0 genome.wustl.edu 37 14 22134074 22134074 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 22134074 22134074 C G SNP OR4E2 ENST00000408935 human ensembl 69_37n +1 known missense c.778 p.R260G 0.995 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 78 0 0.00 52 29 35.80 - - - OR51A7 0 genome.wustl.edu 37 11 4928765 4928765 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 4928765 4928765 C T SNP OR51A7 ENST00000359350 human ensembl 69_37n +1 known missense c.166 p.H56Y 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 117 0 0.00 75 57 43.18 - - - OR52M1 0 genome.wustl.edu 37 11 4566888 4566888 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 4566888 4566888 C G SNP OR52M1 ENST00000360213 human ensembl 69_37n +1 known silent c.468 p.L156 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52M1 HGNC ENSG00000197790 154 0 0.00 55 43 43.88 - - - OR5A1 0 genome.wustl.edu 37 11 59211132 59211132 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 59211132 59211132 G A SNP OR5A1 ENST00000302030 human ensembl 69_37n +1 known missense c.491 p.S164N 0.040 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5A1 HGNC ENSG00000172320 138 0 0.00 73 46 38.66 - - - OR5AK2 0 genome.wustl.edu 37 11 56756549 56756549 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 56756549 56756549 G C SNP OR5AK2 ENST00000326855 human ensembl 69_37n +1 known missense c.161 p.R54T 0.013 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5AK2 HGNC ENSG00000181273 136 0 0.00 81 74 47.74 - - - OR5D14 0 genome.wustl.edu 37 11 55563652 55563652 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 55563652 55563652 C T SNP OR5D14 ENST00000335605 human ensembl 69_37n +1 known silent c.621 p.F207 0.177 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 110 0 0.00 104 82 44.09 - - - OR6B1 0 genome.wustl.edu 37 7 143701587 143701587 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 143701587 143701587 C G SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known silent c.498 p.L166 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 100 0 0.00 108 41 27.52 - - - OR6B1 0 genome.wustl.edu 37 7 143701667 143701667 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 143701667 143701667 C G SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known missense c.578 p.S193C 0.789 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 132 0 0.00 120 47 28.14 - - - OR8J1 0 genome.wustl.edu 37 11 56127883 56127883 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 56127883 56127883 G A SNP OR8J1 ENST00000303039 human ensembl 69_37n +1 known missense c.161 p.R54Q 0.012 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8J1 HGNC ENSG00000172487 144 0 0.00 93 80 46.24 - - - ORC4 0 genome.wustl.edu 37 2 148710034 148710034 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 148710034 148710034 G A SNP ORC4 ENST00000264169 human ensembl 69_37n -1 known missense c.496 p.H166Y 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 102 0 0.00 71 41 36.61 - - - OSGEPL1 0 genome.wustl.edu 37 2 190615347 190615347 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 190615347 190615347 C G SNP OSGEPL1 ENST00000264151 human ensembl 69_37n -1 known missense c.1202 p.G401A 0.836 NULL pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr - no_errors OSGEPL1 HGNC ENSG00000128694 38 0 0.00 67 51 43.22 - - - OTOP3 0 genome.wustl.edu 37 17 72943193 72943193 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 72943193 72943193 G C SNP OTOP3 ENST00000328801 human ensembl 69_37n +1 known missense c.1243 p.D415H 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 46 0 0.00 6 19 76.00 - - - OTUD4 0 genome.wustl.edu 37 4 146059276 146059276 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 146059276 146059276 G A SNP OTUD4 ENST00000447906 human ensembl 69_37n -1 known missense c.2651 p.S884F 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 27 0 0.00 1 13 92.86 - - - OTUD7B 0 genome.wustl.edu 37 1 149916418 149916418 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 149916418 149916418 G C SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.1870 p.Q624E 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 55 0 0.00 40 26 39.39 - - - PA2G4 0 genome.wustl.edu 37 12 56504429 56504429 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 56504429 56504429 C G SNP PA2G4 ENST00000303305 human ensembl 69_37n +1 known missense c.795 p.F265L 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 68 0 0.00 50 27 34.62 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112899674 112899674 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 112899674 112899674 C T SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known missense c.1850 p.S617L 0.051 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 36 0 0.00 10 5 33.33 - - - PANK1 0 genome.wustl.edu 37 10 91353679 91353679 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 91353679 91353679 G C SNP PANK1 ENST00000307534 human ensembl 69_37n -1 known missense c.1378 p.L460V 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 74 0 0.00 34 32 48.48 - - - PARP1 0 genome.wustl.edu 37 1 226555189 226555189 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 226555189 226555189 C T SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known missense c.2398 p.D800N 0.998 pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 158 0 0.00 171 63 26.92 - - - PCDH10 0 genome.wustl.edu 37 4 134073840 134073840 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 134073840 134073840 G A SNP PCDH10 ENST00000264360 human ensembl 69_37n +1 known missense c.2545 p.E849K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 38 0 0.00 11 29 72.50 - - - PCDH12 0 genome.wustl.edu 37 5 141337395 141337395 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 141337395 141337395 G C SNP PCDH12 ENST00000231484 human ensembl 69_37n -1 known missense c.22 p.L8V 0.724 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 34 0 0.00 13 10 43.48 - - - PCDHB15 0 genome.wustl.edu 37 5 140626451 140626451 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 140626451 140626451 G A SNP PCDHB15 ENST00000231173 human ensembl 69_37n +1 known silent c.1305 p.Q435 0.001 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 PCDHB15 HGNC ENSG00000113248 42 0 0.00 53 39 42.39 - - - PCDHGA7 0 genome.wustl.edu 37 5 140762932 140762932 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 140762932 140762932 G A SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known missense c.466 p.E156K 0.681 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 PCDHGA7 HGNC ENSG00000253537 10 0 0.00 19 19 50.00 - - - PCID2 0 genome.wustl.edu 37 13 113851427 113851427 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 113851427 113851427 C G SNP PCID2 ENST00000246505 human ensembl 69_37n -1 known missense c.331 p.E111Q 0.000 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 43 0 0.00 14 37 72.55 - - - PCSK4 0 genome.wustl.edu 37 19 1486858 1486858 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 1486858 1486858 G T SNP PCSK4 ENST00000588195 human ensembl 69_37n -1 known missense c.1048 p.P350T 0.985 NULL pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 18 0 0.00 10 10 50.00 - - - PDE4DIP 0 genome.wustl.edu 37 1 144917926 144917926 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 144917926 144917926 G A SNP PDE4DIP ENST00000369356 human ensembl 69_37n -1 known missense c.1360 p.R454W 0.167 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 150 0 0.00 220 30 12.00 - - - PDIA5 0 genome.wustl.edu 37 3 122873880 122873880 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 122873880 122873880 G A SNP PDIA5 ENST00000316218 human ensembl 69_37n +1 known missense c.1336 p.D446N 1.000 pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 59 0 0.00 33 23 41.07 - - - PDPR 0 genome.wustl.edu 37 16 70166122 70166122 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 70166122 70166122 G C SNP PDPR ENST00000288050 human ensembl 69_37n +1 known missense c.916 p.E306Q 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 41 0 0.00 24 14 36.84 - - - PEG3 0 genome.wustl.edu 37 19 57335705 57335705 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 57335705 57335705 G A SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known nonsense c.319 p.R107* 0.792 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 57 0 0.00 28 25 47.17 - - - PGAM1 0 genome.wustl.edu 37 10 99190257 99190257 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 99190257 99190257 C G SNP PGAM1 ENST00000334828 human ensembl 69_37n +1 known silent c.261 p.L87 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM1 HGNC ENSG00000171314 75 0 0.00 27 27 50.00 - - - PGBD2 0 genome.wustl.edu 37 1 249212537 249212537 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 249212537 249212537 G A SNP PGBD2 ENST00000329291 human ensembl 69_37n +1 known missense c.1754 p.C585Y 0.932 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 117 0 0.00 74 29 28.16 - - - PGBD4 0 genome.wustl.edu 37 15 34396199 34396199 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 34396199 34396199 G C SNP PGBD4 ENST00000397766 human ensembl 69_37n +1 known missense c.1467 p.L489F 0.053 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 41 0 0.00 23 23 50.00 - - - PHF12 0 genome.wustl.edu 37 17 27234610 27234610 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 27234610 27234610 C T SNP PHF12 ENST00000332830 human ensembl 69_37n -1 known missense c.2539 p.E847K 1.000 superfamily_SMAD_FHA_domain,pfscan_FHA_dom pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 25 0 0.00 32 18 36.00 - - - PHF16 0 genome.wustl.edu 37 X 46884154 46884154 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 46884154 46884154 C G SNP PHF16 ENST00000218343 human ensembl 69_37n +1 known missense c.313 p.L105V 0.250 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 68 0 0.00 50 19 27.54 - - - PHF20L1 0 genome.wustl.edu 37 8 133836315 133836315 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 133836315 133836315 G C SNP PHF20L1 ENST00000395383 human ensembl 69_37n +1 novel missense c.1658 p.R553T 1.000 NULL pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 40 0 0.00 51 24 32.00 - - - PI4KA 0 genome.wustl.edu 37 22 21161665 21161665 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 21161665 21161665 G C SNP PI4KA ENST00000255882 human ensembl 69_37n -1 known missense c.1153 p.L385V 0.944 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 107 0 0.00 49 35 41.67 - - - PIWIL1 0 genome.wustl.edu 37 12 130827556 130827556 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 130827556 130827556 C T SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known nonsense c.100 p.Q34* 0.008 pfam_GAGE pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 25 0 0.00 31 16 34.04 - - - PKD1L1 0 genome.wustl.edu 37 7 47979837 47979837 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 47979837 47979837 C T SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known missense c.238 p.E80K 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 99 0 0.00 56 38 40.43 - - - PKD1L2 0 genome.wustl.edu 37 16 81164113 81164113 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 81164113 81164113 G C SNP PKD1L2 ENST00000525539 human ensembl 69_37n -1 known missense c.5994 p.F1998L 0.006 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PKD1L2 HGNC ENSG00000166473 24 0 0.00 26 13 33.33 - - - PKNOX1 0 genome.wustl.edu 37 21 44450137 44450137 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 44450137 44450137 G C SNP PKNOX1 ENST00000291547 human ensembl 69_37n +1 known missense c.1237 p.E413Q 0.996 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 24 0 0.00 11 5 31.25 - - - PLA2G4D 0 genome.wustl.edu 37 15 42371908 42371908 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 42371908 42371908 C T SNP PLA2G4D ENST00000290472 human ensembl 69_37n -1 known missense c.1144 p.E382K 0.003 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 30 0 0.00 17 12 41.38 - - - PLCG2 0 genome.wustl.edu 37 16 81953119 81953119 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 81953119 81953119 C G SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known missense c.2085 p.I695M 0.996 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,prints_SH2,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 24 0 0.00 25 15 37.50 - - - PLG 0 genome.wustl.edu 37 6 161139852 161139852 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 161139852 161139852 G A SNP PLG ENST00000308192 human ensembl 69_37n +1 known missense c.1078 p.E360K 0.009 pirsf_Pept_S1A_plasmin,superfamily_Kringle-like pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 44 0 0.00 31 18 36.73 - - - PLTP 0 genome.wustl.edu 37 20 44531210 44531210 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 44531210 44531210 C G SNP PLTP ENST00000542937 human ensembl 69_37n -1 known missense c.1036 p.E346Q 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 39 0 0.00 3 6 60.00 - - - PLTP 0 genome.wustl.edu 37 20 44533472 44533472 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 44533472 44533472 C T SNP PLTP ENST00000542937 human ensembl 69_37n -1 known silent c.969 p.L323 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 105 0 0.00 4 28 84.85 - - - PLTP 0 genome.wustl.edu 37 20 44533593 44533593 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 44533593 44533593 C T SNP PLTP ENST00000542937 human ensembl 69_37n -1 known silent c.930 p.L310 0.977 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 91 0 0.00 6 37 86.05 - - - PLVAP 0 genome.wustl.edu 37 19 17476094 17476094 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 17476094 17476094 C G SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known splice_site c.1179+1 e3+1 1.000 - - - no_errors PLVAP HGNC ENSG00000130300 20 0 0.00 31 24 43.64 - - - PLXNA3 0 genome.wustl.edu 37 X 153689482 153689482 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 153689482 153689482 C G SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known nonsense c.638 p.S213* 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 44 0 0.00 56 30 34.48 - - - PLXNB1 0 genome.wustl.edu 37 3 48453384 48453384 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 48453384 48453384 C T SNP PLXNB1 ENST00000296440 human ensembl 69_37n -1 known missense c.5135 p.R1712Q 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC ENSG00000164050 38 0 0.00 45 32 41.56 - - - PML 0 genome.wustl.edu 37 15 74317242 74317242 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 74317242 74317242 C G SNP PML ENST00000268058 human ensembl 69_37n +1 known missense c.1228 p.P410A 0.459 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 114 0 0.00 66 23 25.84 - - - PMS2 0 genome.wustl.edu 37 7 6018233 6018233 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 6018233 6018233 C G SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known missense c.2269 p.E757Q 1.000 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 73 0 0.00 217 46 17.49 - - - PNMA3 0 genome.wustl.edu 37 X 152225791 152225791 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 152225791 152225791 G C SNP PNMA3 ENST00000370264 human ensembl 69_37n +1 known missense c.379 p.D127H 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 9 0 0.00 28 9 24.32 - - - POGZ 0 genome.wustl.edu 37 1 151378286 151378286 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 151378286 151378286 G C SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.3225 p.F1075L 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 85 0 0.00 47 14 22.95 - - - POLR1B 0 genome.wustl.edu 37 2 113332582 113332582 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 113332582 113332582 G T SNP POLR1B ENST00000541869 human ensembl 69_37n +1 known missense c.2798 p.R933I 0.978 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 85 0 0.00 33 25 43.10 - - - POLR2J4 0 genome.wustl.edu 37 7 44012857 44012857 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 44012857 44012857 G A SNP POLR2J4 ENST00000422304 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors POLR2J4 HGNC ENSG00000214783 70 0 0.00 27 9 25.00 - - - POTEJ 0 genome.wustl.edu 37 2 131369256 131369256 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 131369256 131369256 G A SNP POTEJ ENST00000409602 human ensembl 69_37n +1 novel missense c.151 p.D51N 0.027 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC ENSG00000222038 26 0 0.00 10 3 23.08 - - - POTEM 0 genome.wustl.edu 37 14 20002272 20002272 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 20002272 20002272 C G SNP POTEM ENST00000547848 human ensembl 69_37n -1 known missense c.1150 p.E384Q 0.158 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 POTEM HGNC ENSG00000187537 228 0 0.00 224 43 16.10 - - - PPAT 0 genome.wustl.edu 37 4 57269520 57269520 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 57269520 57269520 C T SNP PPAT ENST00000264220 human ensembl 69_37n -1 known missense c.450 p.M150I 1.000 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 45 0 0.00 41 23 35.94 - - - PPIG 0 genome.wustl.edu 37 2 170488298 170488298 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 170488298 170488298 G C SNP PPIG ENST00000260970 human ensembl 69_37n +1 known missense c.784 p.E262Q 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 80 0 0.00 72 30 29.41 - - - PPL 0 genome.wustl.edu 37 16 4938213 4938213 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 4938213 4938213 C G SNP PPL ENST00000345988 human ensembl 69_37n -1 known missense c.2404 p.E802Q 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 71 0 0.00 59 31 34.44 - - - PPM1H 0 genome.wustl.edu 37 12 63226010 63226010 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 63226010 63226010 C T SNP PPM1H ENST00000228705 human ensembl 69_37n -1 known missense c.295 p.E99K 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1H HGNC ENSG00000111110 58 0 0.00 35 23 39.66 - - - PPM1M 0 genome.wustl.edu 37 3 52282423 52282423 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 52282423 52282423 G A SNP PPM1M ENST00000457351 human ensembl 69_37n +1 known missense c.868 p.D290N 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC ENSG00000164088 103 0 0.00 31 19 38.00 - - - PPP1R12C 0 genome.wustl.edu 37 19 55623917 55623917 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 55623917 55623917 G C SNP PPP1R12C ENST00000592993 human ensembl 69_37n -1 novel nonsense c.359 p.S120* 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,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,prints_Ankyrin_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPP1R12C HGNC ENSG00000125503 10 0 0.00 7 5 41.67 - - - PPP1R3F 0 genome.wustl.edu 37 X 49143510 49143510 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 49143510 49143510 C T SNP PPP1R3F ENST00000055335 human ensembl 69_37n +1 known silent c.2358 p.L786 0.993 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 74 0 0.00 24 13 35.14 - - - PPP2R5D 0 genome.wustl.edu 37 6 42974749 42974749 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 42974749 42974749 C G SNP PPP2R5D ENST00000485511 human ensembl 69_37n +1 known missense c.423 p.F141L 0.999 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 52 0 0.00 50 33 39.76 - - - PRAMEF1 0 genome.wustl.edu 37 1 12856052 12856052 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 12856052 12856052 C T SNP PRAMEF1 ENST00000332296 human ensembl 69_37n +1 known silent c.1332 p.V444 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 359 0 0.00 119 46 27.88 - - - PRAMEF10 0 genome.wustl.edu 37 1 12955648 12955648 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 12955648 12955648 C G SNP PRAMEF10 ENST00000235347 human ensembl 69_37n -1 known missense c.31 p.E11Q 0.000 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 20 0 0.00 2 21 91.30 - - - PRC1 0 genome.wustl.edu 37 15 91524794 91524794 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 91524794 91524794 C T SNP PRC1 ENST00000394249 human ensembl 69_37n -1 known missense c.607 p.E203K 1.000 pfam_Microtubule-assoc_MAP65_ASE1 pfam_Microtubule-assoc_MAP65_ASE1 - no_errors PRC1 HGNC ENSG00000198901 92 0 0.00 89 33 27.05 - - - PREPL 0 genome.wustl.edu 37 2 44556128 44556128 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 44556128 44556128 C G SNP PREPL ENST00000260648 human ensembl 69_37n -1 known missense c.1477 p.E493Q 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 74 0 0.00 56 31 35.63 - - - PRKCD 0 genome.wustl.edu 37 3 53217174 53217174 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 53217174 53217174 G C SNP PRKCD ENST00000330452 human ensembl 69_37n +1 known missense c.609 p.K203N 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCD HGNC ENSG00000163932 39 0 0.00 19 12 38.71 - - - PRKDC 0 genome.wustl.edu 37 8 48869967 48869967 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 48869967 48869967 G T SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.179 p.S60Y 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 35 0 0.00 75 40 34.48 - - - PRKRIR 0 genome.wustl.edu 37 11 76063380 76063382 + In_Frame_Del DEL CTG CTG - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 76063380 76063382 CTG - DEL PRKRIR ENST00000260045 human ensembl 69_37n -1 known in_frame_del c.814_812 p.A271in_frame_del 0.989:0.902:0.999 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 37 0 0.00 29 12 29.27 - - - PRPF38B 0 genome.wustl.edu 37 1 109235463 109235463 + Nonsense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 109235463 109235463 G T SNP PRPF38B ENST00000370025 human ensembl 69_37n +1 known nonsense c.250 p.E84* 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 10 0 0.00 10 8 44.44 - - - PRRC2A 0 genome.wustl.edu 37 6 31598380 31598380 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 31598380 31598380 G A SNP PRRC2A ENST00000376007 human ensembl 69_37n +1 known missense c.2267 p.R756Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 95 0 0.00 31 20 39.22 - - - PRRC2C 0 genome.wustl.edu 37 1 171553136 171553136 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 171553136 171553136 C G SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known missense c.7451 p.S2484C 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 79 0 0.00 113 49 30.25 - - - PRRG1 0 genome.wustl.edu 37 X 37312566 37312566 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 37312566 37312566 G A SNP PRRG1 ENST00000378628 human ensembl 69_37n +1 known missense c.349 p.E117K 0.841 NULL pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 100 0 0.00 129 85 39.72 - - - PRRG1 0 genome.wustl.edu 37 X 37312734 37312734 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 37312734 37312734 G C SNP PRRG1 ENST00000378628 human ensembl 69_37n +1 known missense c.517 p.E173Q 1.000 NULL pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 61 0 0.00 57 34 37.36 - - - PSG6 0 genome.wustl.edu 37 19 43406569 43406569 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 43406569 43406569 G C SNP PSG6 ENST00000187910 human ensembl 69_37n -1 known missense c.1270 p.H424D 0.004 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC ENSG00000170848 91 0 0.00 73 46 38.66 - - - PSMA3 0 genome.wustl.edu 37 14 58718910 58718910 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 58718910 58718910 G A SNP PSMA3 ENST00000216455 human ensembl 69_37n +1 known missense c.178 p.E60K 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 84 0 0.00 69 35 33.65 - - - PSMD13 0 genome.wustl.edu 37 11 250838 250838 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 250838 250838 G A SNP PSMD13 ENST00000526783 human ensembl 69_37n +1 novel missense c.542 p.G181E 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMD13 HGNC ENSG00000185627 77 0 0.00 71 27 27.55 - - - PSMD4 0 genome.wustl.edu 37 1 151239035 151239035 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 151239035 151239035 C G SNP PSMD4 ENST00000368884 human ensembl 69_37n +1 known nonsense c.935 p.S312* 1.000 NULL pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A - no_errors PSMD4 HGNC ENSG00000159352 142 0 0.00 59 13 18.06 - - - PTBP1 0 genome.wustl.edu 37 19 805560 805560 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 805560 805560 C G SNP PTBP1 ENST00000356948 human ensembl 69_37n +1 known missense c.961 p.Q321E 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 57 0 0.00 94 70 42.42 - - - PTCRA 0 genome.wustl.edu 37 6 42890998 42890998 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 42890998 42890998 G A SNP PTCRA ENST00000304672 human ensembl 69_37n +1 known missense c.292 p.E98K 1.000 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 107 0 0.00 27 16 37.21 - - - PTGER2 0 genome.wustl.edu 37 14 52793938 52793938 + Splice_Site SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 52793938 52793938 G A SNP PTGER2 ENST00000245457 human ensembl 69_37n +1 known splice_site c.844-1 e2-1 1.000 - - - no_errors PTGER2 HGNC ENSG00000125384 53 0 0.00 76 38 33.33 - - - PTPRC 0 genome.wustl.edu 37 1 198721855 198721855 + Nonsense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 198721855 198721855 G T SNP PTPRC ENST00000367376 human ensembl 69_37n +1 known nonsense c.3463 p.E1155* 0.927 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 43 0 0.00 68 24 26.09 - - - PTPRG 0 genome.wustl.edu 37 3 62268432 62268432 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 62268432 62268432 C G SNP PTPRG ENST00000474889 human ensembl 69_37n +1 known missense c.3943 p.Q1315E 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 69 0 0.00 74 39 34.51 - - - PTPRT 0 genome.wustl.edu 37 20 41420063 41420063 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 41420063 41420063 C G SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known missense c.258 p.Q86H 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 44 0 0.00 25 19 43.18 - - - PVRL2 0 genome.wustl.edu 37 19 45377602 45377602 + Missense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 45377602 45377602 C A SNP PVRL2 ENST00000252483 human ensembl 69_37n +1 known missense c.909 p.F303L 0.991 smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 117 0 0.00 28 29 50.88 - - - PYHIN1 0 genome.wustl.edu 37 1 158906839 158906839 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 158906839 158906839 C T SNP PYHIN1 ENST00000368140 human ensembl 69_37n +1 known nonsense c.139 p.Q47* 0.006 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 63 0 0.00 88 37 29.60 - - - PYROXD1 0 genome.wustl.edu 37 12 21615684 21615684 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 21615684 21615684 G C SNP PYROXD1 ENST00000240651 human ensembl 69_37n +1 known missense c.1004 p.G335A 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 62 0 0.00 73 41 35.96 - - - PZP 0 genome.wustl.edu 37 12 9354925 9354925 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 9354925 9354925 C G SNP PZP ENST00000261336 human ensembl 69_37n -1 known missense c.470 p.R157P 0.024 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 42 0 0.00 43 27 38.03 - - - QRICH2 0 genome.wustl.edu 37 17 74271964 74271964 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 74271964 74271964 G C SNP QRICH2 ENST00000447564 human ensembl 69_37n -1 putative missense c.1243 p.Q415E 0.000 NULL NULL - no_start_codon QRICH2 HGNC ENSG00000129646 33 0 0.00 32 6 15.79 - - - QSER1 0 genome.wustl.edu 37 11 32953474 32953474 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 32953474 32953474 C G SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.283 p.H95D 0.757 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 157 0 0.00 94 58 38.16 - - - RAB11FIP1 0 genome.wustl.edu 37 8 37730279 37730279 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 37730279 37730279 C G SNP RAB11FIP1 ENST00000330843 human ensembl 69_37n -1 known missense c.2041 p.E681Q 0.026 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC ENSG00000156675 94 0 0.00 53 27 33.75 - - - RAB21 0 genome.wustl.edu 37 12 72164419 72164419 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 72164419 72164419 C T SNP RAB21 ENST00000261263 human ensembl 69_37n +1 known silent c.267 p.Y89 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB21 HGNC ENSG00000080371 74 0 0.00 64 34 34.69 - - - RAB6A 0 genome.wustl.edu 37 11 73427362 73427362 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 73427362 73427362 C G SNP RAB6A ENST00000310653 human ensembl 69_37n -1 known missense c.335 p.R112T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 84 0 0.00 127 62 32.80 - - - RAB6A 0 genome.wustl.edu 37 11 73429838 73429838 + Missense_Mutation SNP T T G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 73429838 73429838 T G SNP RAB6A ENST00000310653 human ensembl 69_37n -1 known missense c.281 p.D94A 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 57 0 0.00 54 41 43.16 - - - RALGAPA1 0 genome.wustl.edu 37 14 36155786 36155786 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 36155786 36155786 C T SNP RALGAPA1 ENST00000258840 human ensembl 69_37n -1 known missense c.2662 p.E888K 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 42 0 0.00 39 19 32.76 - - - RALGAPA2 0 genome.wustl.edu 37 20 20585864 20585864 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 20585864 20585864 G A SNP RALGAPA2 ENST00000202677 human ensembl 69_37n -1 known silent c.1993 p.L665 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC ENSG00000188559 135 0 0.00 52 30 36.59 - - - RARB 0 genome.wustl.edu 37 3 25635067 25635067 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 25635067 25635067 G A SNP RARB ENST00000404969 human ensembl 69_37n +1 known missense c.881 p.R294Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 129 0 0.00 90 64 41.56 - - - RB1 0 genome.wustl.edu 37 13 49037902 49037902 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 49037902 49037902 G C SNP RB1 ENST00000267163 human ensembl 69_37n +1 known silent c.2142 p.V714 1.000 pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 53 0 0.00 23 18 43.90 - - - RBM15 0 genome.wustl.edu 37 1 110884273 110884273 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 110884273 110884273 C G SNP RBM15 ENST00000369784 human ensembl 69_37n +1 known missense c.2246 p.S749C 0.995 NULL pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 24 0 0.00 29 10 25.64 - - - RBM8A 0 genome.wustl.edu 37 1 145508024 145508024 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 145508024 145508024 C T SNP RBM8A ENST00000330165 human ensembl 69_37n +1 known missense c.76 p.H26Y 1.000 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8 - no_errors RBM8A HGNC ENSG00000131795 56 0 0.00 41 37 47.44 - - - REG1B 0 genome.wustl.edu 37 2 79314715 79314715 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 79314715 79314715 G A SNP REG1B ENST00000305089 human ensembl 69_37n -1 known silent c.24 p.F8 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 73 0 0.00 65 31 32.29 - - - RELN 0 genome.wustl.edu 37 7 103205791 103205791 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 103205791 103205791 G C SNP RELN ENST00000424685 human ensembl 69_37n -1 known nonsense c.5144 p.S1715* 1.000 superfamily_Neuraminidase 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 48 0 0.00 44 33 42.86 - - - REST 0 genome.wustl.edu 37 4 57796138 57796138 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 57796138 57796138 G C SNP REST ENST00000309042 human ensembl 69_37n +1 known missense c.1114 p.D372H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 47 0 0.00 34 35 49.30 - - - RET 0 genome.wustl.edu 37 10 43609119 43609119 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 43609119 43609119 C G SNP RET ENST00000355710 human ensembl 69_37n +1 known missense c.1875 p.I625M 0.967 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 20 0 0.00 12 5 29.41 - - - RGPD2 0 genome.wustl.edu 37 2 88118137 88118137 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 88118137 88118137 C G SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.78 p.L26F 1.000 pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 20 0 0.00 38 10 20.83 - - - RHBDF2 0 genome.wustl.edu 37 17 74471187 74471187 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 74471187 74471187 G C SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known silent c.1239 p.V413 0.912 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 49 0 0.00 68 12 15.00 - - - RHBDF2 0 genome.wustl.edu 37 17 74473347 74473347 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 74473347 74473347 C G SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known missense c.922 p.E308Q 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 14 0 0.00 44 8 15.38 - - - RHOA 0 genome.wustl.edu 37 3 49399964 49399964 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49399964 49399964 C G SNP RHOA ENST00000418115 human ensembl 69_37n -1 known missense c.373 p.E125Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 53 0 0.00 34 41 54.67 - - - RICTOR 0 genome.wustl.edu 37 5 38957828 38957828 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 38957828 38957828 G A SNP RICTOR ENST00000296782 human ensembl 69_37n -1 known missense c.2425 p.L809F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 50 0 0.00 81 47 36.72 - - - RIF1 0 genome.wustl.edu 37 2 152326313 152326313 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 152326313 152326313 C T SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.7030 p.L2344F 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 53 0 0.00 60 40 40.00 - - - RIMS1 0 genome.wustl.edu 37 6 72957721 72957721 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 72957721 72957721 C T SNP RIMS1 ENST00000521978 human ensembl 69_37n +1 known missense c.2132 p.S711L 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 49 0 0.00 60 28 31.82 - - - RNASEH2A 0 genome.wustl.edu 37 19 12918047 12918047 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 12918047 12918047 G C SNP RNASEH2A ENST00000221486 human ensembl 69_37n +1 known missense c.227 p.R76P 1.000 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 230 0 0.00 79 50 38.76 - - - RNF126 0 genome.wustl.edu 37 19 648960 648960 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 648960 648960 C G SNP RNF126 ENST00000292363 human ensembl 69_37n -1 known missense c.592 p.E198Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 8 0 0.00 23 15 39.47 - - - RNLS 0 genome.wustl.edu 37 10 90341456 90341456 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 90341456 90341456 C T SNP RNLS ENST00000331772 human ensembl 69_37n -1 known missense c.235 p.E79K 1.000 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 21 0 0.00 12 14 53.85 - - - ROBO1 0 genome.wustl.edu 37 3 78695325 78695325 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 78695325 78695325 C T SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.2855 p.G952E 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 75 0 0.00 74 51 40.80 - - - ROBO2 0 genome.wustl.edu 37 3 77607285 77607285 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 77607285 77607285 G C SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1422 p.Q474H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 32 0 0.00 18 20 52.63 - - - ROR1 0 genome.wustl.edu 37 1 64643812 64643812 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 64643812 64643812 C T SNP ROR1 ENST00000371079 human ensembl 69_37n +1 known silent c.2088 p.F696 0.525 pirsf_Tyr_kinase_rcpt_ROR,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 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR1 HGNC ENSG00000185483 29 0 0.00 19 8 29.63 - - - RP1 0 genome.wustl.edu 37 8 55533670 55533670 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 55533670 55533670 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known silent c.144 p.F48 0.008 superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 55 0 0.00 55 27 32.93 - - - RPGRIP1 0 genome.wustl.edu 37 14 21792899 21792899 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 21792899 21792899 G C SNP RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known missense c.1885 p.E629Q 1.000 pfam_DUF3250 pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 113 0 0.00 83 41 33.06 - - - RPS6KC1 0 genome.wustl.edu 37 1 213303185 213303185 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 213303185 213303185 C G SNP RPS6KC1 ENST00000366960 human ensembl 69_37n +1 known missense c.788 p.S263C 0.969 pfam_MIT,smart_MIT pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors RPS6KC1 HGNC ENSG00000136643 59 0 0.00 44 22 33.33 - - - RRN3 0 genome.wustl.edu 37 16 15180234 15180234 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 15180234 15180234 G A SNP RRN3 ENST00000198767 human ensembl 69_37n -1 known silent c.330 p.I110 0.423 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 21 0 0.00 36 19 34.55 - - - RSBN1L 0 genome.wustl.edu 37 7 77408043 77408043 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 77408043 77408043 C T SNP RSBN1L ENST00000334955 human ensembl 69_37n +1 known missense c.2099 p.S700F 0.823 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 49 0 0.00 49 28 36.36 - - - RTDR1 0 genome.wustl.edu 37 22 23482532 23482532 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 23482532 23482532 G C SNP RTDR1 ENST00000216036 human ensembl 69_37n -1 known missense c.76 p.R26G 0.306 NULL pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 150 0 0.00 61 42 40.78 - - - RUFY2 0 genome.wustl.edu 37 10 70161423 70161423 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 70161423 70161423 C T SNP RUFY2 ENST00000388768 human ensembl 69_37n -1 known missense c.355 p.E119K 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 70 0 0.00 71 46 39.32 - - - RUNX2 0 genome.wustl.edu 37 6 45480142 45480142 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 45480142 45480142 C A SNP RUNX2 ENST00000352853 human ensembl 69_37n +1 known nonsense c.1223 p.S408* 1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 52 0 0.00 29 11 27.50 - - - RXRG 0 genome.wustl.edu 37 1 165386311 165386311 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 165386311 165386311 G A SNP RXRG ENST00000359842 human ensembl 69_37n -1 known nonsense c.589 p.Q197* 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 53 0 0.00 104 39 27.27 - - - RYR1 0 genome.wustl.edu 37 19 38996472 38996472 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 38996472 38996472 C G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.8427 p.I2809M 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 66 0 0.00 42 9 17.65 - - - RYR1 0 genome.wustl.edu 37 19 39055673 39055673 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 39055673 39055673 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known silent c.12699 p.F4233 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 16 0 0.00 7 8 53.33 - - - RYR2 0 genome.wustl.edu 37 1 237947476 237947476 + Missense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 237947476 237947476 C A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.12482 p.S4161Y 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 45 0 0.00 48 20 29.41 - - - RYR3 0 genome.wustl.edu 37 15 33831625 33831625 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 33831625 33831625 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.508 p.D170N 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 64 0 0.00 54 20 27.03 - - - S100A7L2 0 genome.wustl.edu 37 1 153410674 153410674 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 153410674 153410674 G C SNP S100A7L2 ENST00000453814 human ensembl 69_37n -1 known silent c.165 p.L55 0.499 NULL pfscan_EF_HAND_2 - no_errors S100A7L2 HGNC ENSG00000197364 67 0 0.00 133 63 32.14 - - - SACS 0 genome.wustl.edu 37 13 23907808 23907808 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 23907808 23907808 C T SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.10207 p.D3403N 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 19 0 0.00 13 21 61.76 - - - SAMD15 0 genome.wustl.edu 37 14 77845316 77845316 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 77845316 77845316 G C SNP SAMD15 ENST00000216471 human ensembl 69_37n +1 known missense c.1555 p.E519Q 0.005 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 75 0 0.00 42 27 39.13 - - - SAMD4A 0 genome.wustl.edu 37 14 55203846 55203846 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 55203846 55203846 G A SNP SAMD4A ENST00000392067 human ensembl 69_37n +1 known missense c.820 p.E274K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 70 0 0.00 51 24 32.00 - - - SAMSN1 0 genome.wustl.edu 37 21 15858421 15858421 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 15858421 15858421 C T SNP SAMSN1 ENST00000400566 human ensembl 69_37n -1 known missense c.934 p.E312K 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 93 0 0.00 12 30 71.43 - - - SCN11A 0 genome.wustl.edu 37 3 38938592 38938592 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 38938592 38938592 G C SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known nonsense c.2147 p.S716* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 92 0 0.00 43 22 33.85 - - - SCN8A 0 genome.wustl.edu 37 12 52156412 52156412 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 52156412 52156412 G C SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known silent c.2496 p.L832 0.984 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 82 0 0.00 76 44 36.67 - - - SCYL2 0 genome.wustl.edu 37 12 100707305 100707305 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 100707305 100707305 C G SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.958 p.Q320E 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,pfscan_Prot_kinase_cat_dom 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,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 32 0 0.00 42 38 47.50 - - - SCYL3 0 genome.wustl.edu 37 1 169831772 169831772 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 169831772 169831772 C G SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known missense c.1122 p.K374N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 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,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 22 0 0.00 24 7 22.58 - - - SDAD1 0 genome.wustl.edu 37 4 76878805 76878805 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 76878805 76878805 G A SNP SDAD1 ENST00000356260 human ensembl 69_37n -1 known silent c.1635 p.I545 0.992 pfam_SDA1 pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 150 0 0.00 69 112 61.88 - - - SDE2 0 genome.wustl.edu 37 1 226173184 226173184 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 226173184 226173184 G C SNP SDE2 ENST00000272091 human ensembl 69_37n -1 known missense c.1175 p.S392C 1.000 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 26 0 0.00 64 20 23.81 - - - SECISBP2L 0 genome.wustl.edu 37 15 49320846 49320846 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 49320846 49320846 G C SNP SECISBP2L ENST00000559471 human ensembl 69_37n -1 known nonsense c.698 p.S233* 0.736 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 73 0 0.00 50 20 28.57 - - - SELO 0 genome.wustl.edu 37 22 50649205 50649205 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 50649205 50649205 C T SNP SELO ENST00000380903 human ensembl 69_37n +1 known silent c.1216 p.L406 0.615 pfam_UPF0061 pfam_UPF0061 - pseudogene RP3-402G11.5 Clone_based_vega_gene ENSG00000073169 14 0 0.00 2 9 81.82 - - - SEMA4D 0 genome.wustl.edu 37 9 91993811 91993811 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 91993811 91993811 G A SNP SEMA4D ENST00000356444 human ensembl 69_37n -1 known silent c.2397 p.F799 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 26 0 0.00 20 23 53.49 - - - SEMA4D 0 genome.wustl.edu 37 9 91996003 91996003 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 91996003 91996003 G C SNP SEMA4D ENST00000356444 human ensembl 69_37n -1 known missense c.1630 p.Q544E 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 30 0 0.00 46 36 43.90 - - - SEMA6A 0 genome.wustl.edu 37 5 115803422 115803422 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 115803422 115803422 G T SNP SEMA6A ENST00000257414 human ensembl 69_37n -1 known missense c.1802 p.P601H 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 144 0 0.00 51 41 44.57 - - - SENP1 0 genome.wustl.edu 37 12 48468567 48468567 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 48468567 48468567 C T SNP SENP1 ENST00000004980 human ensembl 69_37n -1 known missense c.562 p.E188K 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 225 0 0.00 161 222 57.81 - - - SENP1 0 genome.wustl.edu 37 12 48477419 48477419 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 48477419 48477419 C G SNP SENP1 ENST00000004980 human ensembl 69_37n -1 known missense c.507 p.L169F 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 67 0 0.00 113 42 27.10 - - - SERAC1 0 genome.wustl.edu 37 6 158532535 158532535 + Splice_Site SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 158532535 158532535 C G SNP SERAC1 ENST00000367104 human ensembl 69_37n -1 known splice_site c.1829-1 e16-1 1.000 - - - no_errors SERAC1 HGNC ENSG00000122335 56 0 0.00 45 33 42.31 - - - SETD2 0 genome.wustl.edu 37 3 47164273 47164273 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 47164273 47164273 G C SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known nonsense c.1853 p.S618* 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 18 0 0.00 11 11 50.00 - - - SETD2 0 genome.wustl.edu 37 3 47164366 47164366 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 47164366 47164366 G C SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.1760 p.S587C 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 25 0 0.00 16 13 44.83 - - - SGCG 0 genome.wustl.edu 37 13 23869574 23869574 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 23869574 23869574 G C SNP SGCG ENST00000218867 human ensembl 69_37n +1 known missense c.526 p.E176Q 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 100 0 0.00 22 55 71.43 - - - SH3KBP1 0 genome.wustl.edu 37 X 19701973 19701973 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 19701973 19701973 C T SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known missense c.694 p.E232K 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 229 0 0.00 113 73 39.25 - - - SH3PXD2A 0 genome.wustl.edu 37 10 105362470 105362470 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 105362470 105362470 C G SNP SH3PXD2A ENST00000369774 human ensembl 69_37n -1 known missense c.2505 p.K835N 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 59 0 0.00 19 9 32.14 - - - SHANK1 0 genome.wustl.edu 37 19 51191282 51191282 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 51191282 51191282 G A SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known nonsense c.2206 p.R736* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 139 0 0.00 48 43 47.25 - - - SHANK1 0 genome.wustl.edu 37 19 51219646 51219646 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 51219646 51219646 G C SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known silent c.345 p.L115 0.968 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 50 0 0.00 25 15 37.50 - - - SHE 0 genome.wustl.edu 37 1 154456804 154456804 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 154456804 154456804 G C SNP SHE ENST00000304760 human ensembl 69_37n -1 known missense c.1309 p.Q437E 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC ENSG00000169291 70 0 0.00 84 29 25.66 - - - SHMT2 0 genome.wustl.edu 37 12 57626534 57626534 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 57626534 57626534 C T SNP SHMT2 ENST00000557529 human ensembl 69_37n +1 putative nonsense c.163 p.Q55* 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SHMT2 HGNC ENSG00000182199 20 0 0.00 9 8 47.06 - - - SIN3A 0 genome.wustl.edu 37 15 75703925 75703925 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 75703925 75703925 G A SNP SIN3A ENST00000360439 human ensembl 69_37n -1 known missense c.916 p.H306Y 1.000 superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 87 0 0.00 99 44 30.77 - - - SKAP2 0 genome.wustl.edu 37 7 26778477 26778477 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 26778477 26778477 C G SNP SKAP2 ENST00000345317 human ensembl 69_37n -1 known missense c.406 p.E136Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,prints_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 85 0 0.00 62 45 42.06 - - - SKIDA1 0 genome.wustl.edu 37 10 21805329 21805329 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 21805329 21805329 G C SNP SKIDA1 ENST00000449193 human ensembl 69_37n -1 known missense c.1423 p.P475A 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 15 0 0.00 9 5 35.71 - - - SLC17A2 0 genome.wustl.edu 37 6 25917065 25917065 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 25917065 25917065 G C SNP SLC17A2 ENST00000377850 human ensembl 69_37n -1 known missense c.778 p.P260A 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 48 0 0.00 40 13 24.53 - - - SLC17A2 0 genome.wustl.edu 37 6 25924049 25924049 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 25924049 25924049 C G SNP SLC17A2 ENST00000377850 human ensembl 69_37n -1 known silent c.114 p.L38 0.935 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 126 0 0.00 60 36 37.50 - - - SLC17A5 0 genome.wustl.edu 37 6 74331664 74331664 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 74331664 74331664 G A SNP SLC17A5 ENST00000355773 human ensembl 69_37n -1 known missense c.841 p.P281S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 16 0 0.00 28 11 28.21 - - - SLC22A13 0 genome.wustl.edu 37 3 38317565 38317565 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 38317565 38317565 C T SNP SLC22A13 ENST00000311856 human ensembl 69_37n +1 known silent c.1215 p.I405 0.001 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 50 0 0.00 40 15 27.27 - - - SLC24A3 0 genome.wustl.edu 37 20 19665825 19665825 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 19665825 19665825 G A SNP SLC24A3 ENST00000328041 human ensembl 69_37n +1 known missense c.1144 p.E382K 1.000 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A3 HGNC ENSG00000185052 89 0 0.00 56 36 39.13 - - - SLC30A9 0 genome.wustl.edu 37 4 42020150 42020150 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 42020150 42020150 C G SNP SLC30A9 ENST00000264451 human ensembl 69_37n +1 known silent c.297 p.L99 0.997 NULL pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 31 0 0.00 10 20 66.67 - - - SLC38A1 0 genome.wustl.edu 37 12 46591533 46591533 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 46591533 46591533 C G SNP SLC38A1 ENST00000398637 human ensembl 69_37n -1 known missense c.1332 p.Q444H 0.897 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 267 0 0.00 137 68 33.17 - - - SLC38A5 0 genome.wustl.edu 37 X 48317388 48317388 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 48317388 48317388 G T SNP SLC38A5 ENST00000317669 human ensembl 69_37n -1 known missense c.1350 p.F450L 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 79 0 0.00 14 8 36.36 - - - SLC38A6 0 genome.wustl.edu 37 14 61482670 61482670 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 61482670 61482670 G A SNP SLC38A6 ENST00000354886 human ensembl 69_37n +1 known missense c.359 p.G120E 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 94 0 0.00 134 68 33.66 - - - SLC4A1AP 0 genome.wustl.edu 37 2 27898467 27898467 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 27898467 27898467 C T SNP SLC4A1AP ENST00000326019 human ensembl 69_37n +1 known missense c.1414 p.L472F 1.000 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 58 0 0.00 59 41 41.00 - - - SLC9A2 0 genome.wustl.edu 37 2 103324815 103324815 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 103324815 103324815 C G SNP SLC9A2 ENST00000233969 human ensembl 69_37n +1 known missense c.2306 p.S769C 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 148 0 0.00 47 32 40.51 - - - SLCO1B1 0 genome.wustl.edu 37 12 21294573 21294573 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 21294573 21294573 G C SNP SLCO1B1 ENST00000256958 human ensembl 69_37n +1 known missense c.65 p.R22T 0.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 51 0 0.00 62 21 25.30 - - - SLCO4C1 0 genome.wustl.edu 37 5 101572691 101572691 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 101572691 101572691 G A SNP SLCO4C1 ENST00000310954 human ensembl 69_37n -1 known silent c.2046 p.F682 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 61 0 0.00 51 48 48.48 - - - SLFN13 0 genome.wustl.edu 37 17 33772305 33772305 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 33772305 33772305 G A SNP SLFN13 ENST00000285013 human ensembl 69_37n -1 known missense c.395 p.S132F 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN13 HGNC ENSG00000154760 23 0 0.00 8 15 65.22 - - - SMAD4 0 genome.wustl.edu 37 18 48584560 48584560 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 48584560 48584560 C T SNP SMAD4 ENST00000342988 human ensembl 69_37n +1 known nonsense c.733 p.Q245* 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 99 0 0.00 16 42 72.41 - - - SMARCA1 0 genome.wustl.edu 37 X 128632007 128632007 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 128632007 128632007 G A SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known missense c.1319 p.S440F 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 69 0 0.00 47 21 30.88 - - - SMARCA1 0 genome.wustl.edu 37 X 128638729 128638729 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 128638729 128638729 G A SNP SMARCA1 ENST00000371122 human ensembl 69_37n -1 known silent c.1149 p.L383 0.998 pfam_SNF2_N pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 196 0 0.00 117 60 33.90 - - - SMARCA4 0 genome.wustl.edu 37 19 11141449 11141449 + Missense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 11141449 11141449 C A SNP SMARCA4 ENST00000358026 human ensembl 69_37n +1 known missense c.3426 p.F1142L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 19 0 0.00 19 11 36.67 - - - SMNDC1 0 genome.wustl.edu 37 10 112063272 112063272 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 112063272 112063272 C T SNP SMNDC1 ENST00000369592 human ensembl 69_37n -1 known missense c.74 p.G25E 1.000 NULL pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC ENSG00000119953 41 0 0.00 77 52 40.31 - - - SMO 0 genome.wustl.edu 37 7 128846408 128846408 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 128846408 128846408 G C SNP SMO ENST00000249373 human ensembl 69_37n +1 known missense c.1244 p.G415A 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 95 0 0.00 26 21 44.68 - - - SNAP91 0 genome.wustl.edu 37 6 84311005 84311005 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 84311005 84311005 C G SNP SNAP91 ENST00000369694 human ensembl 69_37n -1 known missense c.1309 p.V437L 0.989 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 108 0 0.00 124 84 40.00 - - - SND1 0 genome.wustl.edu 37 7 127724814 127724814 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 127724814 127724814 G T SNP SND1 ENST00000354725 human ensembl 69_37n +1 known missense c.2149 p.D717Y 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC ENSG00000197157 26 0 0.00 23 12 34.29 - - - SNRNP200 0 genome.wustl.edu 37 2 96944572 96944572 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 96944572 96944572 C T SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known silent c.5298 p.Q1766 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 109 0 0.00 84 52 38.24 - - - SNRNP48 0 genome.wustl.edu 37 6 7602900 7602900 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 7602900 7602900 G A SNP SNRNP48 ENST00000342415 human ensembl 69_37n +1 known missense c.640 p.E214K 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 46 0 0.00 43 28 39.44 - - - SNRPG 0 genome.wustl.edu 37 2 70516492 70516492 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 70516492 70516492 C G SNP SNRPG ENST00000272348 human ensembl 69_37n -1 known missense c.45 p.K15N 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPG HGNC ENSG00000143977 58 0 0.00 58 33 36.26 - - - SNX25 0 genome.wustl.edu 37 4 186260571 186260571 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 186260571 186260571 G A SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known silent c.1461 p.E487 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 33 0 0.00 8 22 73.33 - - - SOX5 0 genome.wustl.edu 37 12 23728609 23728609 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 23728609 23728609 C G SNP SOX5 ENST00000451604 human ensembl 69_37n -1 known missense c.1328 p.R443T 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 87 0 0.00 66 44 40.00 - - - SPANXN2 0 genome.wustl.edu 37 X 142795504 142795504 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 142795504 142795504 C T SNP SPANXN2 ENST00000370498 human ensembl 69_37n -1 known silent c.174 p.R58 0.024 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 632 0 0.00 290 177 37.82 - - - SPDEF 0 genome.wustl.edu 37 6 34512079 34512079 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 34512079 34512079 C T SNP SPDEF ENST00000374037 human ensembl 69_37n -1 known missense c.154 p.E52K 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC ENSG00000124664 14 0 0.00 8 8 50.00 - - - SPDYE1 0 genome.wustl.edu 37 7 44040870 44040870 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 44040870 44040870 C T SNP SPDYE1 ENST00000258704 human ensembl 69_37n +1 known silent c.246 p.F82 0.106 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE1 HGNC ENSG00000136206 59 0 0.00 32 23 41.82 - - - SPESP1 0 genome.wustl.edu 37 15 69238543 69238543 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 69238543 69238543 G C SNP SPESP1 ENST00000310673 human ensembl 69_37n +1 known missense c.670 p.D224H 0.002 NULL NULL - no_errors SPESP1 HGNC ENSG00000258484 17 0 0.00 16 4 20.00 - - - SPG11 0 genome.wustl.edu 37 15 44881460 44881460 + Silent SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 44881460 44881460 G C SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known silent c.4896 p.L1632 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 25 0 0.00 16 18 52.94 - - - SPHKAP 0 genome.wustl.edu 37 2 228881474 228881474 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 228881474 228881474 C T SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.4096 p.E1366K 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 35 0 0.00 10 31 75.61 - - - SPON1 0 genome.wustl.edu 37 11 14101542 14101542 + RNA SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 14101542 14101542 G C SNP SPON1 ENST00000310358 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 69 0 0.00 57 29 33.72 - - - SPRY2 0 genome.wustl.edu 37 13 80911485 80911485 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 80911485 80911485 C T SNP SPRY2 ENST00000377102 human ensembl 69_37n -1 known missense c.356 p.R119Q 0.988 NULL pfam_Sprouty - no_errors SPRY2 HGNC ENSG00000136158 53 0 0.00 12 22 64.71 - - - SPRYD7 0 genome.wustl.edu 37 13 50502161 50502161 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 50502161 50502161 C T SNP SPRYD7 ENST00000361840 human ensembl 69_37n -1 known missense c.284 p.R95Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD7 HGNC ENSG00000123178 100 0 0.00 47 62 56.88 - - - SRCAP 0 genome.wustl.edu 37 16 30744671 30744671 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 30744671 30744671 C T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.6198 p.T2066 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 55 0 0.00 31 14 31.11 - - - SSC5D 0 genome.wustl.edu 37 19 56029541 56029541 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 56029541 56029541 C T SNP SSC5D ENST00000389623 human ensembl 69_37n +1 known missense c.3898 p.H1300Y 0.032 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors SSC5D HGNC ENSG00000179954 110 0 0.00 117 73 38.42 - - - SSFA2 0 genome.wustl.edu 37 2 182783380 182783380 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 182783380 182783380 C T SNP SSFA2 ENST00000431877 human ensembl 69_37n +1 known missense c.2843 p.S948L 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 79 0 0.00 104 63 37.72 - - - ST14 0 genome.wustl.edu 37 11 130078484 130078484 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 130078484 130078484 C T SNP ST14 ENST00000278742 human ensembl 69_37n +1 known missense c.2174 p.S725F 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ST14 HGNC ENSG00000149418 30 0 0.00 29 18 38.30 - - - ST3GAL3 0 genome.wustl.edu 37 1 44290500 44290500 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 44290500 44290500 C G SNP ST3GAL3 ENST00000262915 human ensembl 69_37n +1 known missense c.352 p.L118V 0.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 138 0 0.00 97 31 24.22 - - - STAG1 0 genome.wustl.edu 37 3 136196200 136196200 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 136196200 136196200 C T SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.957 p.M319I 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 84 0 0.00 144 65 31.10 - - - STAG1 0 genome.wustl.edu 37 3 136196234 136196234 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 136196234 136196234 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.923 p.R308T 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 66 0 0.00 111 69 38.33 - - - STEAP2 0 genome.wustl.edu 37 7 89859216 89859216 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 89859216 89859216 G A SNP STEAP2 ENST00000287908 human ensembl 69_37n +1 known missense c.1051 p.E351K 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom,pfam_NADP_OxRdtase_F420 - no_errors STEAP2 HGNC ENSG00000157214 58 0 0.00 79 46 36.51 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808340 48808340 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 48808340 48808340 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known missense c.568 p.E190K 1.000 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 34 0 0.00 66 26 28.26 - - - STX17 0 genome.wustl.edu 37 9 102713468 102713468 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 102713468 102713468 C G SNP STX17 ENST00000259400 human ensembl 69_37n +1 known missense c.316 p.L106V 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 46 0 0.00 60 41 40.59 - - - STXBP5 0 genome.wustl.edu 37 6 147684707 147684707 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 147684707 147684707 C T SNP STXBP5 ENST00000321680 human ensembl 69_37n +1 known silent c.2782 p.L928 1.000 pfam_Lgl_C,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 59 0 0.00 68 46 40.35 - - - SUGP1 0 genome.wustl.edu 37 19 19431303 19431303 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 19431303 19431303 C T SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 44 0 0.00 33 15 31.25 - - - SVEP1 0 genome.wustl.edu 37 9 113141791 113141791 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 113141791 113141791 G C SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known nonsense c.10244 p.S3415* 1.000 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 33 0 0.00 47 23 32.86 - - - SVEP1 0 genome.wustl.edu 37 9 113168823 113168823 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 113168823 113168823 C G SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known silent c.9057 p.G3019 0.962 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 20 0 0.00 21 10 32.26 - - - SWT1 0 genome.wustl.edu 37 1 185245789 185245789 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 185245789 185245789 G A SNP SWT1 ENST00000367500 human ensembl 69_37n +1 known silent c.2562 p.Q854 0.527 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 29 0 0.00 31 17 35.42 - - - SYCP2L 0 genome.wustl.edu 37 6 10894107 10894107 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 10894107 10894107 C T SNP SYCP2L ENST00000283141 human ensembl 69_37n +1 known missense c.86 p.S29L 0.139 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 23 0 0.00 11 13 54.17 - - - SYDE1 0 genome.wustl.edu 37 19 15222217 15222217 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 15222217 15222217 G A SNP SYDE1 ENST00000342784 human ensembl 69_37n +1 known missense c.1384 p.E462K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 138 0 0.00 52 32 37.65 - - - SYNE1 0 genome.wustl.edu 37 6 152770740 152770740 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 152770740 152770740 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.3432 p.E1144 0.179 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 52 0 0.00 45 47 51.09 - - - SYNE2 0 genome.wustl.edu 37 14 64653259 64653259 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 64653259 64653259 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.17674 p.E5892Q 0.909 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 45 0 0.00 54 33 37.93 - - - SYT16 0 genome.wustl.edu 37 14 62463084 62463084 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 62463084 62463084 C G SNP SYT16 ENST00000446982 human ensembl 69_37n +1 known nonsense c.347 p.S116* 0.005 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 63 0 0.00 23 16 41.03 - - - SYTL3 0 genome.wustl.edu 37 6 159084346 159084346 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 159084346 159084346 G C SNP SYTL3 ENST00000297239 human ensembl 69_37n +1 known missense c.46 p.E16Q 0.641 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL3 HGNC ENSG00000164674 26 0 0.00 22 17 43.59 - - - TACC2 0 genome.wustl.edu 37 10 123846402 123846402 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 123846402 123846402 C T SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.4387 p.L1463F 0.014 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 13 0 0.00 3 4 57.14 - - - TACR1 0 genome.wustl.edu 37 2 75278398 75278398 + Silent SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 75278398 75278398 G T SNP TACR1 ENST00000305249 human ensembl 69_37n -1 known silent c.912 p.I304 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 166 1 0.60 113 64 35.96 - - - TBC1D15 0 genome.wustl.edu 37 12 72274276 72274276 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 72274276 72274276 C G SNP TBC1D15 ENST00000550746 human ensembl 69_37n +1 known missense c.232 p.Q78E 0.998 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 34 0 0.00 30 13 30.23 - - - TBC1D29 0 genome.wustl.edu 37 17 28890393 28890393 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 28890393 28890393 C G SNP TBC1D29 ENST00000579181 human ensembl 69_37n +1 known missense c.403 p.L135V 0.058 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 34 0 0.00 24 17 41.46 - - - TBC1D4 0 genome.wustl.edu 37 13 76055566 76055566 + Missense_Mutation SNP T T C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 13 76055566 76055566 T C SNP TBC1D4 ENST00000377636 human ensembl 69_37n -1 known missense c.338 p.N113S 0.091 smart_PTyr_interaction_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 26 0 0.00 11 13 54.17 - - - TBC1D5 0 genome.wustl.edu 37 3 17415966 17415966 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 17415966 17415966 C G SNP TBC1D5 ENST00000253692 human ensembl 69_37n -1 known missense c.819 p.Q273H 0.991 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_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 TBC1D5 HGNC ENSG00000131374 74 0 0.00 60 42 40.78 - - - TCF20 0 genome.wustl.edu 37 22 42609196 42609196 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 42609196 42609196 G A SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.2116 p.R706C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 116 0 0.00 58 25 30.12 - - - TCHH 0 genome.wustl.edu 37 1 152082620 152082620 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 152082620 152082620 C T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.3073 p.E1025K 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 429 0 0.00 347 136 28.10 - - - TCHHL1 0 genome.wustl.edu 37 1 152060521 152060521 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 152060521 152060521 C T SNP TCHHL1 ENST00000368806 human ensembl 69_37n -1 known silent c.99 p.L33 0.104 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 92 0 0.00 75 26 25.74 - - - TCTN3 0 genome.wustl.edu 37 10 97453174 97453174 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 97453174 97453174 C T SNP TCTN3 ENST00000371217 human ensembl 69_37n -1 known missense c.370 p.D124N 1.000 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 16 0 0.00 27 10 27.03 - - - TDP2 0 genome.wustl.edu 37 6 24666935 24666935 + Nonsense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 24666935 24666935 C T SNP TDP2 ENST00000545995 human ensembl 69_37n -1 known nonsense c.246 p.W82* 1.000 superfamily_UBA-like pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 38 0 0.00 36 6 14.29 - - - TDRD6 0 genome.wustl.edu 37 6 46658854 46658854 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 46658854 46658854 G A SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.2989 p.D997N 0.988 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 24 0 0.00 31 20 38.46 - - - TEK 0 genome.wustl.edu 37 9 27157944 27157944 + Silent SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 27157944 27157944 C A SNP TEK ENST00000380036 human ensembl 69_37n +1 known silent c.168 p.T56 0.988 pfam_Tyr_kin_Tie2_Ig-like_dom-1_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 79 0 0.00 187 26 12.21 - - - TEKT5 0 genome.wustl.edu 37 16 10775963 10775963 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 10775963 10775963 C G SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known missense c.750 p.E250D 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 152 0 0.00 73 50 40.65 - - - TESK2 0 genome.wustl.edu 37 1 45810610 45810610 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 45810610 45810610 C G SNP TESK2 ENST00000372086 human ensembl 69_37n -1 known missense c.1618 p.E540Q 1.000 NULL 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 TESK2 HGNC ENSG00000070759 44 0 0.00 50 8 13.79 - - - TEX15 0 genome.wustl.edu 37 8 30695150 30695150 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 30695150 30695150 C G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.7501 p.D2501H 0.024 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 35 0 0.00 29 18 38.30 - - - TEX15 0 genome.wustl.edu 37 8 30701576 30701576 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 30701576 30701576 C G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.4958 p.R1653T 0.988 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 42 0 0.00 27 19 41.30 - - - TGM2 0 genome.wustl.edu 37 20 36776480 36776480 + Frame_Shift_Del DEL C C - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 20 36776480 36776480 C - DEL TGM2 ENST00000361475 human ensembl 69_37n -1 known frame_shift_del c.564 p.I189fs 0.067 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 38 0 0.00 8 9 52.94 - - - THEM5 0 genome.wustl.edu 37 1 151823550 151823550 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 151823550 151823550 G C SNP THEM5 ENST00000368817 human ensembl 69_37n -1 known missense c.443 p.S148C 1.000 NULL pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 28 0 0.00 51 16 23.88 - - - THSD7B 0 genome.wustl.edu 37 2 138413174 138413174 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 138413174 138413174 G C SNP THSD7B ENST00000272643 human ensembl 69_37n +1 known missense c.4058 p.G1353A 1.000 smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 51 0 0.00 26 33 55.93 - - - TIAM2 0 genome.wustl.edu 37 6 155465844 155465844 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 155465844 155465844 C G SNP TIAM2 ENST00000456144 human ensembl 69_37n +1 known missense c.1735 p.P579A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 57 0 0.00 37 28 43.08 - - - TICRR 0 genome.wustl.edu 37 15 90168722 90168722 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 90168722 90168722 C G SNP TICRR ENST00000561095 human ensembl 69_37n +1 known nonsense c.92 p.S31* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TICRR HGNC ENSG00000140534 28 0 0.00 25 6 19.35 - - - TLE3 0 genome.wustl.edu 37 15 70366914 70366916 + In_Frame_Del DEL GCG GCG - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 70366914 70366916 GCG - DEL TLE3 ENST00000558939 human ensembl 69_37n -1 known in_frame_del c.330_328 p.R110in_frame_del 0.561:0.998:0.994 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 91 0 0.00 69 14 16.67 - - - TLR4 0 genome.wustl.edu 37 9 120470909 120470909 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 120470909 120470909 C G SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.162 p.F54L 0.405 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 128 0 0.00 108 70 39.33 - - - TM9SF3 0 genome.wustl.edu 37 10 98311125 98311125 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 98311125 98311125 C G SNP TM9SF3 ENST00000371142 human ensembl 69_37n -1 known missense c.836 p.G279A 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 104 0 0.00 77 40 34.19 - - - TMEM131 0 genome.wustl.edu 37 2 98388801 98388801 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 98388801 98388801 G A SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known silent c.4407 p.L1469 0.010 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 310 1 0.32 258 152 36.98 - - - TMEM135 0 genome.wustl.edu 37 11 87020587 87020587 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 87020587 87020587 G A SNP TMEM135 ENST00000305494 human ensembl 69_37n +1 known missense c.809 p.C270Y 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 65 0 0.00 38 30 44.12 - - - TMEM165 0 genome.wustl.edu 37 4 56291562 56291562 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 56291562 56291562 C T SNP TMEM165 ENST00000381334 human ensembl 69_37n +1 known silent c.918 p.I306 1.000 pfam_UPF0016 pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 213 0 0.00 232 146 38.62 - - - TMEM167B 0 genome.wustl.edu 37 1 109635596 109635596 + Frame_Shift_Del DEL C C - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 109635596 109635596 C - DEL TMEM167B ENST00000338272 human ensembl 69_37n +1 known frame_shift_del c.95 p.W33fs 1.000 pfam_DUF1242 pfam_DUF1242 - no_errors TMEM167B HGNC ENSG00000215717 158 0 0.00 174 90 33.71 - - - TMEM17 0 genome.wustl.edu 37 2 62728547 62728547 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 62728547 62728547 C T SNP TMEM17 ENST00000335390 human ensembl 69_37n -1 known missense c.394 p.E132K 1.000 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM17 HGNC ENSG00000186889 51 0 0.00 48 33 40.74 - - - TMEM39A 0 genome.wustl.edu 37 3 119151002 119151002 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 119151002 119151002 G A SNP TMEM39A ENST00000319172 human ensembl 69_37n -1 known silent c.1293 p.V431 0.995 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 48 0 0.00 26 20 43.48 - - - TMEM53 0 genome.wustl.edu 37 1 45140034 45140034 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 45140034 45140034 G C SNP TMEM53 ENST00000372237 human ensembl 69_37n -1 known missense c.30 p.I10M 1.000 NULL pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 17 0 0.00 31 10 24.39 - - - TMEM62 0 genome.wustl.edu 37 15 43476616 43476616 + Missense_Mutation SNP T T C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 43476616 43476616 T C SNP TMEM62 ENST00000564494 human ensembl 69_37n +1 novel missense c.1454 p.I485T 0.689 NULL superfamily_Cadherin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM62 HGNC ENSG00000137842 60 0 0.00 71 65 47.79 - - - TMEM74 0 genome.wustl.edu 37 8 109797208 109797208 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 109797208 109797208 G A SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known silent c.120 p.L40 0.898 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 56 0 0.00 48 22 31.43 - - - TMEM80 0 genome.wustl.edu 37 11 700696 700696 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 700696 700696 G A SNP TMEM80 ENST00000397510 human ensembl 69_37n +1 known missense c.290 p.R97Q 0.019 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 79 0 0.00 99 52 34.44 - - - TMF1 0 genome.wustl.edu 37 3 69096739 69096739 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 69096739 69096739 C T SNP TMF1 ENST00000543976 human ensembl 69_37n -1 known missense c.1117 p.A373T 0.291 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 54 0 0.00 47 26 35.62 - - - TMOD3 0 genome.wustl.edu 37 15 52155168 52155168 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 52155168 52155168 G A SNP TMOD3 ENST00000308580 human ensembl 69_37n +1 known silent c.87 p.L29 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 46 0 0.00 55 24 30.38 - - - TNIK 0 genome.wustl.edu 37 3 170879087 170879087 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 170879087 170879087 C G SNP TNIK ENST00000436636 human ensembl 69_37n -1 known missense c.988 p.E330Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 165 0 0.00 166 96 36.64 - - - TNKS2 0 genome.wustl.edu 37 10 93590888 93590888 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 93590888 93590888 G C SNP TNKS2 ENST00000371627 human ensembl 69_37n +1 known missense c.1225 p.E409Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 197 0 0.00 151 100 39.84 - - - TNNI3 0 genome.wustl.edu 37 19 55663210 55663210 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 55663210 55663210 C T SNP TNNI3 ENST00000344887 human ensembl 69_37n -1 known missense c.625 p.E209K 1.000 NULL pfam_Troponin,pfam_Troponin-I_N - no_errors TNNI3 HGNC ENSG00000129991 215 0 0.00 116 74 38.95 - - - TP53BP2 0 genome.wustl.edu 37 1 223990996 223990996 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 223990996 223990996 C T SNP TP53BP2 ENST00000343537 human ensembl 69_37n -1 known missense c.808 p.D270N 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 64 0 0.00 59 25 29.76 - - - TPR 0 genome.wustl.edu 37 1 186295307 186295307 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 186295307 186295307 C T SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.5950 p.E1984K 0.970 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 66 0 0.00 200 78 28.06 - - - TRAPPC9 0 genome.wustl.edu 37 8 141301148 141301148 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 141301148 141301148 C T SNP TRAPPC9 ENST00000389328 human ensembl 69_37n -1 known missense c.2092 p.E698K 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 179 0 0.00 87 60 40.82 - - - TRIM33 0 genome.wustl.edu 37 1 114944049 114944049 + Nonsense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 114944049 114944049 C A SNP TRIM33 ENST00000358465 human ensembl 69_37n -1 known nonsense c.2929 p.E977* 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,prints_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 49 0 0.00 46 25 35.21 - - - TRIM47 0 genome.wustl.edu 37 17 73872004 73872004 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 17 73872004 73872004 C T SNP TRIM47 ENST00000254816 human ensembl 69_37n -1 known silent c.1179 p.G393 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC ENSG00000132481 10 0 0.00 15 11 42.31 - - - TRIM49 0 genome.wustl.edu 37 11 89537238 89537238 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 11 89537238 89537238 C G SNP TRIM49 ENST00000329758 human ensembl 69_37n -1 known missense c.400 p.E134Q 0.012 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC ENSG00000168930 23 0 0.00 18 16 45.71 - - - TRIM73 0 genome.wustl.edu 37 7 75024709 75024709 + RNA SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 75024709 75024709 C G SNP TRIM73 ENST00000463766 human ensembl 69_37n +1 putative rna NULL NULL 0.235 - - - no_errors TRIM73 HGNC ENSG00000178809 28 0 0.00 6 6 50.00 - - - TRIP11 0 genome.wustl.edu 37 14 92482143 92482143 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 92482143 92482143 C G SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.720 p.Q240H 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 92 0 0.00 130 78 37.32 - - - TRPM2 0 genome.wustl.edu 37 21 45821618 45821618 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 21 45821618 45821618 C T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.2376 p.F792 0.988 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 14 0 0.00 36 42 53.85 - - - TRPM3 0 genome.wustl.edu 37 9 73151072 73151072 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 73151072 73151072 C T SNP TRPM3 ENST00000423814 human ensembl 69_37n -1 known missense c.5002 p.E1668K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 122 0 0.00 71 55 43.31 - - - TRPS1 0 genome.wustl.edu 37 8 116426596 116426596 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 116426596 116426596 C T SNP TRPS1 ENST00000395715 human ensembl 69_37n -1 known silent c.3540 p.A1180 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 74 0 0.00 70 31 30.69 - - - TSC22D2 0 genome.wustl.edu 37 3 150127629 150127629 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 150127629 150127629 G A SNP TSC22D2 ENST00000361875 human ensembl 69_37n +1 known silent c.492 p.V164 0.997 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 8 0 0.00 8 5 38.46 - - - TSHZ3 0 genome.wustl.edu 37 19 31768267 31768267 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 31768267 31768267 G A SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known missense c.2432 p.T811M 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 137 0 0.00 62 40 39.22 - - - TSNAXIP1 0 genome.wustl.edu 37 16 67861660 67861660 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 67861660 67861660 G C SNP TSNAXIP1 ENST00000388833 human ensembl 69_37n +1 known missense c.1741 p.E581Q 0.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 35 0 0.00 16 10 38.46 - - - TSPAN19 0 genome.wustl.edu 37 12 85411253 85411253 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 85411253 85411253 C T SNP TSPAN19 ENST00000532498 human ensembl 69_37n -1 known silent c.576 p.L192 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 66 0 0.00 71 34 32.38 - - - TSPAN9 0 genome.wustl.edu 37 12 3388205 3388205 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 12 3388205 3388205 C T SNP TSPAN9 ENST00000011898 human ensembl 69_37n +1 known silent c.303 p.L101 0.999 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN9 HGNC ENSG00000011105 93 0 0.00 108 66 37.93 - - - TTC39A 0 genome.wustl.edu 37 1 51756244 51756244 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 51756244 51756244 G A SNP TTC39A ENST00000447632 human ensembl 69_37n -1 known silent c.1428 p.L476 0.999 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 61 0 0.00 96 31 24.41 - - - TTN 0 genome.wustl.edu 37 2 179396528 179396528 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179396528 179396528 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.97110 p.L32370 0.990 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 94 0 0.00 26 28 51.85 - - - TTN 0 genome.wustl.edu 37 2 179422711 179422711 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179422711 179422711 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.79666 p.G26556S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 35 0 0.00 37 25 40.32 - - - TTN 0 genome.wustl.edu 37 2 179442812 179442812 + Frame_Shift_Del DEL T T - TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179442812 179442812 T - DEL TTN ENST00000342992 human ensembl 69_37n -1 known frame_shift_del c.60726 p.G20243fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 38 0 0.00 91 44 32.35 - - - TTN 0 genome.wustl.edu 37 2 179449955 179449955 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179449955 179449955 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.56812 p.E18938K 0.878 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 193 0 0.00 180 115 38.98 - - - TTN 0 genome.wustl.edu 37 2 179507028 179507028 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179507028 179507028 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.32790 p.K10930N 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 25 0 0.00 66 27 28.72 - - - TTN 0 genome.wustl.edu 37 2 179599238 179599238 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179599238 179599238 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.11581 p.E3861Q 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 17 0 0.00 23 24 51.06 - - - TTN 0 genome.wustl.edu 37 2 179641336 179641336 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 179641336 179641336 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.5255 p.R1752H 0.999 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 30 0 0.00 22 20 47.62 - - - TUBB 0 genome.wustl.edu 37 6 30692166 30692166 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 30692166 30692166 G C SNP TUBB ENST00000327892 human ensembl 69_37n +1 known missense c.1327 p.E443Q 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 24 0 0.00 14 10 41.67 - - - TUBGCP4 0 genome.wustl.edu 37 15 43678117 43678117 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 43678117 43678117 G C SNP TUBGCP4 ENST00000260383 human ensembl 69_37n +1 known missense c.852 p.Q284H 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC ENSG00000137822 116 0 0.00 44 26 37.14 - - - TXK 0 genome.wustl.edu 37 4 48096222 48096222 + Splice_Site SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 48096222 48096222 C T SNP TXK ENST00000264316 human ensembl 69_37n -1 known splice_site c.582-1 e8-1 0.813 - - - no_errors TXK HGNC ENSG00000074966 95 0 0.00 40 32 44.44 - - - TXNDC2 0 genome.wustl.edu 37 18 9887951 9887951 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 9887951 9887951 C T SNP TXNDC2 ENST00000306084 human ensembl 69_37n +1 known missense c.1475 p.A492V 0.217 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 50 0 0.00 10 15 60.00 - - - TXNDC5 0 genome.wustl.edu 37 6 7889793 7889793 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 7889793 7889793 C G SNP TXNDC5 ENST00000379757 human ensembl 69_37n -1 known missense c.754 p.E252Q 0.823 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 23 0 0.00 22 14 38.89 - - - TYRO3 0 genome.wustl.edu 37 15 41860467 41860467 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 41860467 41860467 C T SNP TYRO3 ENST00000559815 human ensembl 69_37n +1 known missense c.212 p.S71L 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TYRO3 HGNC ENSG00000092445 50 0 0.00 35 17 32.69 - - - UBN1 0 genome.wustl.edu 37 16 4924718 4924718 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 4924718 4924718 C T SNP UBN1 ENST00000586716 human ensembl 69_37n +1 novel missense c.686 p.S229L 0.212 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBN1 HGNC ENSG00000118900 42 0 0.00 12 5 29.41 - - - UBQLN1 0 genome.wustl.edu 37 9 86278792 86278792 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 86278792 86278792 G C SNP UBQLN1 ENST00000376395 human ensembl 69_37n -1 known missense c.1615 p.Q539E 1.000 NULL pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 92 0 0.00 38 31 44.93 - - - UBR2 0 genome.wustl.edu 37 6 42657406 42657406 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 42657406 42657406 C T SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known silent c.5124 p.L1708 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 70 0 0.00 61 49 44.14 - - - UBR3 0 genome.wustl.edu 37 2 170806568 170806568 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 170806568 170806568 G C SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.3538 p.E1180Q 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 22 0 0.00 13 10 43.48 - - - UCHL5 0 genome.wustl.edu 37 1 192992148 192992148 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 192992148 192992148 G C SNP UCHL5 ENST00000443327 human ensembl 69_37n -1 known nonsense c.320 p.S107* 1.000 NULL pfam_Peptidase_C12 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UCHL5 HGNC ENSG00000116750 81 0 0.00 176 48 21.33 - - - UGGT1 0 genome.wustl.edu 37 2 128938641 128938641 + Missense_Mutation SNP G G T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 128938641 128938641 G T SNP UGGT1 ENST00000259253 human ensembl 69_37n +1 known missense c.4078 p.D1360Y 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 109 0 0.00 75 58 43.61 - - - UGP2 0 genome.wustl.edu 37 2 64069209 64069209 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 64069209 64069209 G A SNP UGP2 ENST00000484056 human ensembl 69_37n +1 known rna NULL NULL 0.087 - - - no_errors UGP2 HGNC ENSG00000169764 28 0 0.00 9 11 55.00 - - - UGT2B17 0 genome.wustl.edu 37 4 69417578 69417578 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 4 69417578 69417578 G C SNP UGT2B17 ENST00000317746 human ensembl 69_37n -1 known missense c.1057 p.R353G 0.058 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 40 0 0.00 17 57 77.03 - - - UNC13C 0 genome.wustl.edu 37 15 54586148 54586148 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 54586148 54586148 G A SNP UNC13C ENST00000260323 human ensembl 69_37n +1 known missense c.3874 p.D1292N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting 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 80 0 0.00 118 67 36.22 - - - URB2 0 genome.wustl.edu 37 1 229772758 229772758 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 229772758 229772758 C G SNP URB2 ENST00000258243 human ensembl 69_37n +1 known missense c.2398 p.L800V 0.758 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 23 0 0.00 97 27 21.77 - - - USH2A 0 genome.wustl.edu 37 1 216595627 216595627 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 216595627 216595627 C G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.52 p.E18Q 0.000 NULL 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 26 0 0.00 43 14 24.56 - - - USP19 0 genome.wustl.edu 37 3 49147699 49147699 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49147699 49147699 G C SNP USP19 ENST00000398888 human ensembl 69_37n -1 known missense c.3647 p.S1216C 1.000 NULL pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 18 0 0.00 15 11 42.31 - - - USP19 0 genome.wustl.edu 37 3 49148493 49148493 + Silent SNP A A G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49148493 49148493 A G SNP USP19 ENST00000398888 human ensembl 69_37n -1 known silent c.3126 p.C1042 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19 - no_errors USP19 HGNC ENSG00000172046 21 0 0.00 14 11 44.00 - - - USP24 0 genome.wustl.edu 37 1 55537548 55537548 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 55537548 55537548 C T SNP USP24 ENST00000294383 human ensembl 69_37n -1 known missense c.7739 p.G2580E 1.000 NULL pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 224 0 0.00 61 38 38.00 - - - USP24 0 genome.wustl.edu 37 1 55589232 55589232 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 55589232 55589232 C T SNP USP24 ENST00000294383 human ensembl 69_37n -1 known silent c.4164 p.L1388 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 148 0 0.00 41 14 25.45 - - - USP34 0 genome.wustl.edu 37 2 61475692 61475692 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 61475692 61475692 C T SNP USP34 ENST00000398571 human ensembl 69_37n -1 known silent c.6348 p.T2116 0.925 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 68 0 0.00 73 33 31.13 - - - USP4 0 genome.wustl.edu 37 3 49365238 49365238 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 49365238 49365238 G C SNP USP4 ENST00000265560 human ensembl 69_37n -1 known missense c.241 p.Q81E 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC ENSG00000114316 24 0 0.00 37 27 42.19 - - - VANGL2 0 genome.wustl.edu 37 1 160385686 160385686 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 160385686 160385686 C T SNP VANGL2 ENST00000368061 human ensembl 69_37n +1 known missense c.59 p.S20F 1.000 pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 43 0 0.00 27 9 25.00 - - - VCAN 0 genome.wustl.edu 37 5 82834656 82834656 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 82834656 82834656 C T SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.5834 p.S1945F 0.449 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 47 0 0.00 12 18 60.00 - - - VCAN 0 genome.wustl.edu 37 5 82836059 82836059 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 5 82836059 82836059 G A SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.7237 p.E2413K 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 44 0 0.00 15 18 54.55 - - - VNN2 0 genome.wustl.edu 37 6 133078658 133078658 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 133078658 133078658 C T SNP VNN2 ENST00000326499 human ensembl 69_37n -1 known missense c.241 p.D81N 1.000 pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 55 0 0.00 55 35 38.89 - - - VPS13A 0 genome.wustl.edu 37 9 79934578 79934578 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 79934578 79934578 C G SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.5404 p.L1802V 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 117 0 0.00 56 44 44.00 - - - VPS26A 0 genome.wustl.edu 37 10 70916861 70916861 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 70916861 70916861 G C SNP VPS26A ENST00000263559 human ensembl 69_37n +1 known missense c.328 p.E110Q 1.000 pfam_VPS26 pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 63 0 0.00 62 33 34.74 - - - VPS39 0 genome.wustl.edu 37 15 42476775 42476775 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 42476775 42476775 C G SNP VPS39 ENST00000348544 human ensembl 69_37n -1 known missense c.691 p.E231Q 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 101 0 0.00 57 22 27.85 - - - VWA7 0 genome.wustl.edu 37 6 31735495 31735495 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 31735495 31735495 C G SNP VWA7 ENST00000375686 human ensembl 69_37n -1 known missense c.1540 p.G514R 0.011 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 28 0 0.00 9 6 40.00 - - - WASL 0 genome.wustl.edu 37 7 123335879 123335879 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 123335879 123335879 C G SNP WASL ENST00000223023 human ensembl 69_37n -1 known missense c.670 p.D224H 1.000 pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 62 0 0.00 80 30 27.27 - - - WBP11P1 0 genome.wustl.edu 37 18 30091887 30091887 + RNA SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 30091887 30091887 G A SNP WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 109 1 0.91 34 69 66.99 - - - WDR44 0 genome.wustl.edu 37 X 117570786 117570786 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 117570786 117570786 G C SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.1973 p.R658T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 85 0 0.00 69 49 41.53 - - - WDR52 0 genome.wustl.edu 37 3 113092289 113092289 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 113092289 113092289 C T SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known missense c.2413 p.E805K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 98 0 0.00 56 30 34.88 - - - WDR75 0 genome.wustl.edu 37 2 190323496 190323496 + Nonsense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 190323496 190323496 C G SNP WDR75 ENST00000314761 human ensembl 69_37n +1 known nonsense c.587 p.S196* 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 40 0 0.00 20 12 37.50 - - - WDR87 0 genome.wustl.edu 37 19 38383735 38383735 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 38383735 38383735 C T SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.2608 p.A870T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 20 0 0.00 79 37 31.90 - - - WDR87 0 genome.wustl.edu 37 19 38385190 38385190 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 38385190 38385190 C T SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.1153 p.E385K 0.934 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 37 0 0.00 29 10 25.64 - - - WDR93 0 genome.wustl.edu 37 15 90245206 90245206 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 90245206 90245206 G C SNP WDR93 ENST00000268130 human ensembl 69_37n +1 known missense c.229 p.E77Q 0.956 NULL superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 23 0 0.00 22 16 42.11 - - - WLS 0 genome.wustl.edu 37 1 68615925 68615925 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 68615925 68615925 G A SNP WLS ENST00000540432 human ensembl 69_37n -1 known silent c.918 p.I306 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 23 0 0.00 39 15 27.78 - - - WNK3 0 genome.wustl.edu 37 X 54265471 54265471 + Missense_Mutation SNP C C A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 X 54265471 54265471 C A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.3713 p.S1238I 0.973 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 44 0 0.00 34 28 45.16 - - - XAB2 0 genome.wustl.edu 37 19 7692239 7692239 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 7692239 7692239 G A SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known missense c.412 p.R138W 0.774 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 22 0 0.00 30 15 33.33 - - - XKR5 0 genome.wustl.edu 37 8 6669366 6669366 + RNA SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 6669366 6669366 C T SNP XKR5 ENST00000405979 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 136 0 0.00 58 45 43.69 - - - XKR6 0 genome.wustl.edu 37 8 10782265 10782265 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 10782265 10782265 C T SNP XKR6 ENST00000416569 human ensembl 69_37n -1 known missense c.840 p.M280I 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 38 0 0.00 13 16 55.17 - - - XPO1 0 genome.wustl.edu 37 2 61719558 61719558 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 61719558 61719558 G C SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known nonsense c.1625 p.S542* 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 32 0 0.00 49 32 39.51 - - - XRCC1 0 genome.wustl.edu 37 19 44047652 44047652 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 44047652 44047652 C G SNP XRCC1 ENST00000262887 human ensembl 69_37n -1 known silent c.1794 p.L598 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 131 0 0.00 60 22 26.83 - - - ZBTB9 0 genome.wustl.edu 37 6 33423526 33423526 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 33423526 33423526 G C SNP ZBTB9 ENST00000395064 human ensembl 69_37n +1 known missense c.649 p.E217Q 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 13 0 0.00 25 17 40.48 - - - ZDBF2 0 genome.wustl.edu 37 2 207171381 207171381 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 207171381 207171381 C G SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.2129 p.S710C 0.934 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 54 0 0.00 26 19 42.22 - - - ZDBF2 0 genome.wustl.edu 37 2 207172836 207172836 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 207172836 207172836 G C SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.3584 p.C1195S 0.869 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 44 0 0.00 37 27 42.19 - - - ZDBF2 0 genome.wustl.edu 37 2 207175364 207175364 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 207175364 207175364 G C SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known missense c.6112 p.D2038H 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 16 0 0.00 20 9 31.03 - - - ZEB1 0 genome.wustl.edu 37 10 31799649 31799649 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 31799649 31799649 G C SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.533 p.R178T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 37 0 0.00 42 25 37.31 - - - ZFP106 0 genome.wustl.edu 37 15 42743889 42743889 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 15 42743889 42743889 G A SNP ZFP106 ENST00000263805 human ensembl 69_37n -1 known missense c.512 p.S171F 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 69 0 0.00 29 20 40.82 - - - ZFYVE1 0 genome.wustl.edu 37 14 73490905 73490905 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 73490905 73490905 C G SNP ZFYVE1 ENST00000553891 human ensembl 69_37n -1 known missense c.312 p.Q104H 1.000 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 60 0 0.00 67 38 36.19 - - - ZFYVE26 0 genome.wustl.edu 37 14 68219189 68219189 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 14 68219189 68219189 C G SNP ZFYVE26 ENST00000347230 human ensembl 69_37n -1 known missense c.7243 p.E2415Q 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 90 0 0.00 27 14 33.33 - - - ZHX2 0 genome.wustl.edu 37 8 123964657 123964657 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 123964657 123964657 G A SNP ZHX2 ENST00000314393 human ensembl 69_37n +1 known missense c.907 p.E303K 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 41 0 0.00 29 23 44.23 - - - ZKSCAN2 0 genome.wustl.edu 37 16 25251885 25251885 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 25251885 25251885 C T SNP ZKSCAN2 ENST00000328086 human ensembl 69_37n -1 known missense c.2156 p.G719E 0.443 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 92 0 0.00 96 46 32.17 - - - ZNF17 0 genome.wustl.edu 37 19 57932368 57932368 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 57932368 57932368 G C SNP ZNF17 ENST00000307658 human ensembl 69_37n +1 known missense c.1508 p.C503S 1.000 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 ZNF17 HGNC ENSG00000186272 71 0 0.00 123 66 34.74 - - - ZNF19 0 genome.wustl.edu 37 16 71510090 71510090 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 71510090 71510090 C T SNP ZNF19 ENST00000288177 human ensembl 69_37n -1 known silent c.360 p.L120 0.160 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 ZNF19 HGNC ENSG00000157429 153 0 0.00 105 61 36.53 - - - ZNF20 0 genome.wustl.edu 37 19 12243837 12243837 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 12243837 12243837 C T SNP ZNF20 ENST00000334213 human ensembl 69_37n -1 known silent c.1164 p.T388 0.076 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 63 0 0.00 118 66 35.87 - - - ZNF22 0 genome.wustl.edu 37 10 45498934 45498934 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 45498934 45498934 G C SNP ZNF22 ENST00000298299 human ensembl 69_37n +1 known missense c.118 p.D40H 0.939 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 9 0 0.00 23 22 48.89 - - - ZNF274 0 genome.wustl.edu 37 19 58724197 58724197 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 58724197 58724197 C G SNP ZNF274 ENST00000326804 human ensembl 69_37n +1 known silent c.1647 p.L549 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 50 0 0.00 70 48 40.68 - - - ZNF322 0 genome.wustl.edu 37 6 26637617 26637617 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 26637617 26637617 C T SNP ZNF322 ENST00000415922 human ensembl 69_37n -1 known missense c.1165 p.E389K 0.776 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 261 0 0.00 234 59 20.07 - - - ZNF324B 0 genome.wustl.edu 37 19 58966888 58966888 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 58966888 58966888 G C SNP ZNF324B ENST00000336614 human ensembl 69_37n +1 known missense c.577 p.E193Q 0.000 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 ZNF324B HGNC ENSG00000249471 22 0 0.00 13 6 31.58 - - - ZNF33A 0 genome.wustl.edu 37 10 38343824 38343824 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 38343824 38343824 G A SNP ZNF33A ENST00000432900 human ensembl 69_37n +1 known missense c.790 p.D264N 0.002 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 ZNF33A HGNC ENSG00000189180 57 0 0.00 67 33 33.00 - - - ZNF33A 0 genome.wustl.edu 37 10 38344439 38344439 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 10 38344439 38344439 C G SNP ZNF33A ENST00000432900 human ensembl 69_37n +1 known missense c.1405 p.H469D 0.998 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 ZNF33A HGNC ENSG00000189180 73 0 0.00 96 61 38.85 - - - ZNF407 0 genome.wustl.edu 37 18 72776056 72776056 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 18 72776056 72776056 G C SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known missense c.6379 p.E2127Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 28 0 0.00 2 7 77.78 - - - ZNF423 0 genome.wustl.edu 37 16 49671691 49671691 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 16 49671691 49671691 C T SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known missense c.1372 p.E458K 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 51 0 0.00 40 20 33.33 - - - ZNF430 0 genome.wustl.edu 37 19 21240097 21240097 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 21240097 21240097 G A SNP ZNF430 ENST00000261560 human ensembl 69_37n +1 known missense c.983 p.R328Q 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 ZNF430 HGNC ENSG00000118620 10 0 0.00 80 55 40.74 - - - ZNF441 0 genome.wustl.edu 37 19 11891007 11891007 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 11891007 11891007 G C SNP ZNF441 ENST00000357901 human ensembl 69_37n +1 known missense c.368 p.R123T 0.000 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 ZNF441 HGNC ENSG00000197044 52 0 0.00 118 75 38.66 - - - ZNF451 0 genome.wustl.edu 37 6 57033220 57033220 + Splice_Site SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 6 57033220 57033220 G C SNP ZNF451 ENST00000370706 human ensembl 69_37n +1 known splice_site c.3140-1 e15-1 1.000 - - - no_errors ZNF451 HGNC ENSG00000112200 35 0 0.00 84 48 36.36 - - - ZNF462 0 genome.wustl.edu 37 9 109685791 109685791 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 9 109685791 109685791 G C SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.127 p.E43Q 0.914 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 187 0 0.00 70 42 37.50 - - - ZNF468 0 genome.wustl.edu 37 19 53352452 53352452 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 53352452 53352452 G A SNP ZNF468 ENST00000243639 human ensembl 69_37n -1 known silent c.30 p.F10 0.966 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,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 ZNF468 HGNC ENSG00000204604 137 0 0.00 197 123 38.44 - - - ZNF492 0 genome.wustl.edu 37 19 22848028 22848028 + Silent SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 22848028 22848028 G A SNP ZNF492 ENST00000456783 human ensembl 69_37n +1 known silent c.1557 p.K519 0.007 NULL 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 70 0 0.00 109 55 33.33 - - - ZNF501 0 genome.wustl.edu 37 3 44776036 44776036 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 3 44776036 44776036 G C SNP ZNF501 ENST00000396048 human ensembl 69_37n +1 known missense c.123 p.Q41H 0.957 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 51 0 0.00 93 68 41.98 - - - ZNF565 0 genome.wustl.edu 37 19 36673394 36673394 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 36673394 36673394 C T SNP ZNF565 ENST00000304116 human ensembl 69_37n -1 known missense c.1474 p.E492K 0.005 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 ZNF565 HGNC ENSG00000196357 40 0 0.00 73 24 24.74 - - - ZNF586 0 genome.wustl.edu 37 19 58290506 58290506 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 58290506 58290506 G C SNP ZNF586 ENST00000396154 human ensembl 69_37n +1 known missense c.551 p.G184A 1.000 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 ZNF586 HGNC ENSG00000083828 55 0 0.00 109 70 38.46 - - - ZNF626 0 genome.wustl.edu 37 19 20808204 20808204 + Nonsense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 20808204 20808204 G C SNP ZNF626 ENST00000305570 human ensembl 69_37n -1 known nonsense c.479 p.S160* 0.118 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 ZNF626 HGNC ENSG00000188171 122 0 0.00 196 118 37.58 - - - ZNF695 0 genome.wustl.edu 37 1 247150774 247150774 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 1 247150774 247150774 C G SNP ZNF695 ENST00000339986 human ensembl 69_37n -1 known missense c.1043 p.G348A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 56 0 0.00 97 48 33.10 - - - ZNF707 0 genome.wustl.edu 37 8 144773808 144773808 + Nonsense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 8 144773808 144773808 G A SNP ZNF707 ENST00000530574 human ensembl 69_37n +1 putative nonsense c.171 p.W57* 0.010 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_stop_codon:bad_bp_length_for_coding_region ZNF707 HGNC ENSG00000181135 9 0 0.00 15 17 53.12 - - - ZNF726 0 genome.wustl.edu 37 19 24116208 24116208 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 24116208 24116208 C T SNP ZNF726 ENST00000322487 human ensembl 69_37n +1 known silent c.1290 p.C430 0.998 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 ZNF726 HGNC ENSG00000213967 17 0 0.00 94 45 32.37 - - - ZNF737 0 genome.wustl.edu 37 19 20728347 20728347 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 20728347 20728347 C T SNP ZNF737 ENST00000427401 human ensembl 69_37n -1 known missense c.662 p.R221K 0.898 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 ZNF737 HGNC ENSG00000237440 25 0 0.00 82 53 39.26 - - - ZNF777 0 genome.wustl.edu 37 7 149129965 149129966 + In_Frame_Ins INS - - TCC TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 7 149129965 149129966 - TCC INS ZNF777 ENST00000247930 human ensembl 69_37n -1 known in_frame_ins c.1398_1397 p.466in_frame_insE 0.025:0.090 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 12 0 0.00 12 5 29.41 - - - ZNF83 0 genome.wustl.edu 37 19 53117613 53117613 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 53117613 53117613 G C SNP ZNF83 ENST00000301096 human ensembl 69_37n -1 known missense c.205 p.H69D 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 81 0 0.00 58 30 34.09 - - - ZNF845 0 genome.wustl.edu 37 19 53855843 53855843 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 19 53855843 53855843 G C SNP ZNF845 ENST00000458035 human ensembl 69_37n +1 known missense c.1915 p.E639Q 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 ZNF845 HGNC ENSG00000213799 25 0 0.00 120 57 32.20 - - - ZNRF3 0 genome.wustl.edu 37 22 29442769 29442769 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 29442769 29442769 G C SNP ZNRF3 ENST00000544604 human ensembl 69_37n +1 known missense c.810 p.K270N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 24 0 0.00 18 10 35.71 - - - ZNRF3 0 genome.wustl.edu 37 22 29445639 29445639 + Silent SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 22 29445639 29445639 C G SNP ZNRF3 ENST00000544604 human ensembl 69_37n +1 known silent c.1470 p.L490 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 11 0 0.00 8 5 38.46 - - - ZSWIM2 0 genome.wustl.edu 37 2 187703766 187703766 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ffcb6e0-9850-47c8-a75a-5ff47a6f1a2f a20d8bfb-53ad-4a4e-bbc5-4f204a08b812 2 187703766 187703766 C T SNP ZSWIM2 ENST00000295131 human ensembl 69_37n -1 known silent c.414 p.Q138 1.000 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 60 0 0.00 87 64 42.38 - - -