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 A2M 0 genome.wustl.edu 37 12 9242989 9242989 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 9242989 9242989 C T SNP A2M ENST00000543436 human ensembl 69_37n -1 putative missense c.302 p.G101D 0.385 pfam_SV_autoAg pfam_Macroglobln_a2,pfam_SV_autoAg - no_start_codon:pseudogene:no_stop_codon A2M HGNC ENSG00000175899 105 0 0.00 54 9 14.29 - - - AGBL1 0 genome.wustl.edu 37 15 86940618 86940618 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 15 86940618 86940618 T C SNP AGBL1 ENST00000441037 human ensembl 69_37n +1 known missense c.2258 p.I753T 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 72 0 0.00 34 5 12.82 - - - AKAP4 0 genome.wustl.edu 37 X 49957994 49957994 + Missense_Mutation SNP T T A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf X 49957994 49957994 T A SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known missense c.1370 p.D457V 0.070 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 98 0 0.00 43 8 15.69 - - - ANKRD18B 0 genome.wustl.edu 37 9 33555770 33555770 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 9 33555770 33555770 C T SNP ANKRD18B ENST00000290943 human ensembl 69_37n +1 known missense c.2096 p.A699V 0.034 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 116 0 0.00 37 10 21.28 - - - ASXL1 0 genome.wustl.edu 37 20 31021612 31021612 + Missense_Mutation SNP A A T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 20 31021612 31021612 A T SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known missense c.1611 p.E537D 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 15 0 0.00 17 5 22.73 - - - ATF1 0 genome.wustl.edu 37 12 51207889 51207889 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 51207889 51207889 C T SNP ATF1 ENST00000262053 human ensembl 69_37n +1 known missense c.425 p.T142I 0.927 NULL pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors ATF1 HGNC ENSG00000123268 38 0 0.00 34 9 20.93 - - - BET3L 0 genome.wustl.edu 37 6 116861558 116861558 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 6 116861558 116861558 T C SNP BET3L ENST00000368602 human ensembl 69_37n -1 known missense c.208 p.S70G 0.994 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 - no_errors BET3L HGNC ENSG00000173626 36 0 0.00 25 9 26.47 - - - CATSPERB 0 genome.wustl.edu 37 14 92047329 92047329 + Silent SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 14 92047329 92047329 C T SNP CATSPERB ENST00000256343 human ensembl 69_37n -1 known silent c.3255 p.P1085 0.000 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC ENSG00000133962 109 0 0.00 38 27 41.54 - - - CD109 0 genome.wustl.edu 37 6 74466405 74466405 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 6 74466405 74466405 G A SNP CD109 ENST00000287097 human ensembl 69_37n +1 known missense c.673 p.V225I 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 83 0 0.00 48 20 29.41 - - - CELF4 0 genome.wustl.edu 37 18 35145386 35145386 + Silent SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 18 35145386 35145386 G A SNP CELF4 ENST00000361795 human ensembl 69_37n -1 known silent c.219 p.L73 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 72 0 0.00 31 7 18.42 - - - CHD1L 0 genome.wustl.edu 37 1 146758174 146758174 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 146758174 146758174 G C SNP CHD1L ENST00000369258 human ensembl 69_37n +1 known missense c.2218 p.V740L 0.998 pfscan_A1pp pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 84 0 0.00 21 18 46.15 - - - CHRM2 0 genome.wustl.edu 37 7 136700646 136700646 + Missense_Mutation SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 136700646 136700646 A G SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known missense c.1034 p.E345G 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 38 0 0.00 27 6 18.18 - - - CHST15 0 genome.wustl.edu 37 10 125771954 125771954 + Missense_Mutation SNP A A T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 10 125771954 125771954 A T SNP CHST15 ENST00000346248 human ensembl 69_37n -1 known missense c.1390 p.W464R 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC ENSG00000182022 84 0 0.00 23 4 14.81 - - - DARS2 0 genome.wustl.edu 37 1 173826805 173826805 + Missense_Mutation SNP T T A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 173826805 173826805 T A SNP DARS2 ENST00000361951 human ensembl 69_37n +1 known missense c.1900 p.S634T 0.397 tigrfam_Asp-tRNA-synth_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-synth_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 33 0 0.00 42 7 14.00 - - - DEFB129 0 genome.wustl.edu 37 20 210186 210186 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 20 210186 210186 G A SNP DEFB129 ENST00000246105 human ensembl 69_37n +1 known missense c.326 p.S109N 0.000 NULL NULL - no_errors DEFB129 HGNC ENSG00000125903 108 0 0.00 41 11 21.15 - - - DGKD 0 genome.wustl.edu 37 2 234359581 234359581 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 2 234359581 234359581 G A SNP DGKD ENST00000430834 human ensembl 69_37n +1 known missense c.1034 p.R345H 0.003 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DGKD HGNC ENSG00000077044 45 0 0.00 16 10 38.46 - - - DIAPH3 0 genome.wustl.edu 37 13 60407364 60407364 + Silent SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 13 60407364 60407364 C T SNP DIAPH3 ENST00000400324 human ensembl 69_37n -1 known silent c.2904 p.S968 0.000 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,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 83 0 0.00 48 10 17.24 - - - FASTK 0 genome.wustl.edu 37 7 150774317 150774317 + Missense_Mutation SNP A A T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 150774317 150774317 A T SNP FASTK ENST00000297532 human ensembl 69_37n -1 known missense c.1298 p.L433Q 0.993 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 10 0 0.00 25 5 16.67 - - - FBXW10 0 genome.wustl.edu 37 17 18670066 18670066 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 17 18670066 18670066 G C SNP FBXW10 ENST00000308799 human ensembl 69_37n +1 known missense c.1682 p.R561T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW10 HGNC ENSG00000171931 129 0 0.00 77 17 18.09 - - - GOLGA6L5 0 genome.wustl.edu 37 15 85053254 85053254 + RNA SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 15 85053254 85053254 T C SNP GOLGA6L5 ENST00000414190 human ensembl 69_37n -1 known rna NULL NULL 0.973 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 20 0 0.00 10 3 23.08 - - - GOLIM4 0 genome.wustl.edu 37 3 167750551 167750551 + Missense_Mutation SNP C C G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 3 167750551 167750551 C G SNP GOLIM4 ENST00000470487 human ensembl 69_37n -1 known missense c.933 p.E311D 0.001 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 87 0 0.00 41 8 16.33 - - - GRINA 0 genome.wustl.edu 37 8 145066211 145066211 + Missense_Mutation SNP T T G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 8 145066211 145066211 T G SNP GRINA ENST00000313269 human ensembl 69_37n +1 known missense c.658 p.F220V 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 40 0 0.00 50 6 10.71 - - - HHLA2 0 genome.wustl.edu 37 3 108094632 108094632 + Missense_Mutation SNP G G T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 3 108094632 108094632 G T SNP HHLA2 ENST00000357759 human ensembl 69_37n +1 known missense c.1144 p.D382Y 0.000 NULL pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors HHLA2 HGNC ENSG00000114455 79 0 0.00 38 7 15.56 - - - IL1RAPL1 0 genome.wustl.edu 37 X 29301321 29301321 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf X 29301321 29301321 G A SNP IL1RAPL1 ENST00000302196 human ensembl 69_37n +1 known missense c.349 p.A117T 0.985 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like - no_errors IL1RAPL1 HGNC ENSG00000169306 40 0 0.00 29 13 30.95 - - - KCNJ2 0 genome.wustl.edu 37 17 68171571 68171571 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 17 68171571 68171571 G A SNP KCNJ2 ENST00000243457 human ensembl 69_37n +1 known missense c.391 p.A131T 0.999 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 59 0 0.00 35 9 20.45 - - - KCNT2 0 genome.wustl.edu 37 1 196251440 196251440 + Missense_Mutation SNP C C A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 196251440 196251440 C A SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.2744 p.G915V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 74 0 0.00 46 11 19.30 - - - KIAA1967 0 genome.wustl.edu 37 8 22470552 22470552 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 8 22470552 22470552 C T SNP KIAA1967 ENST00000308511 human ensembl 69_37n +1 known missense c.607 p.R203C 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors KIAA1967 HGNC ENSG00000158941 27 0 0.00 25 6 19.35 - - - L1CAM 0 genome.wustl.edu 37 X 153129922 153129922 + Silent SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf X 153129922 153129922 A G SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known silent c.3183 p.G1061 0.000 superfamily_Fibronectin_type3 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 L1CAM HGNC ENSG00000198910 24 0 0.00 26 5 15.62 - - - LONP2 0 genome.wustl.edu 37 16 48304031 48304031 + Missense_Mutation SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 16 48304031 48304031 A G SNP LONP2 ENST00000285737 human ensembl 69_37n +1 known missense c.1087 p.K363E 1.000 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 59 0 0.00 33 5 13.16 - - - LRCH2 0 genome.wustl.edu 37 X 114414224 114414224 + Missense_Mutation SNP G G T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf X 114414224 114414224 G T SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.712 p.H238N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 45 0 0.00 42 8 16.00 - - - LYRM5 0 genome.wustl.edu 37 12 25356905 25356908 + Frame_Shift_Del DEL TTCT TTCT - TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 25356905 25356908 TTCT - DEL LYRM5 ENST00000381356 human ensembl 69_37n +1 known frame_shift_del c.15_18 p.S6fs 1.000:1.000:1.000:0.992 NULL pfam_Complex1_LYR - no_errors LYRM5 HGNC ENSG00000205707 61 0 0.00 33 6 15.38 - - - MT1M 0 genome.wustl.edu 37 16 56666647 56666647 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 16 56666647 56666647 G A SNP MT1M ENST00000379818 human ensembl 69_37n +1 known missense c.4 p.D2N 0.967 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 49 0 0.00 14 10 41.67 - - - MUC17 0 genome.wustl.edu 37 7 100681604 100681604 + Missense_Mutation SNP C C A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 100681604 100681604 C A SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known missense c.6907 p.P2303T 0.596 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 40 0 0.00 90 11 10.89 - - - MUC20 0 genome.wustl.edu 37 3 195452814 195452814 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 3 195452814 195452814 C T SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known missense c.1340 p.T447M 0.002 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 29 0 0.00 26 8 23.53 - - - MUC5B 0 genome.wustl.edu 37 11 1266156 1266156 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 11 1266156 1266156 G C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8055 p.Q2685H 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 30 0 0.00 30 11 26.83 - - - MYO5B 0 genome.wustl.edu 37 18 47518741 47518741 + Missense_Mutation SNP G G T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 18 47518741 47518741 G T SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.673 p.Q225K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,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 MYO5B HGNC ENSG00000167306 163 0 0.00 52 17 24.64 - - - NLRP3 0 genome.wustl.edu 37 1 247582310 247582310 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 247582310 247582310 G A SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.214 p.V72M 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 40 0 0.00 15 8 34.78 - - - OMA1 0 genome.wustl.edu 37 1 58999654 58999654 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 58999654 58999654 C T SNP OMA1 ENST00000371226 human ensembl 69_37n -1 known missense c.982 p.E328K 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 59 0 0.00 25 15 37.50 - - - OPHN1 0 genome.wustl.edu 37 X 67417078 67417078 + Missense_Mutation SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf X 67417078 67417078 A G SNP OPHN1 ENST00000355520 human ensembl 69_37n -1 known missense c.1054 p.S352P 0.997 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 108 0 0.00 47 12 20.34 - - - PCLO 0 genome.wustl.edu 37 7 82784526 82784526 + Silent SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 82784526 82784526 T C SNP PCLO ENST00000333891 human ensembl 69_37n -1 known silent c.1431 p.A477 0.010 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 37 0 0.00 66 9 12.00 - - - PDCD6IP 0 genome.wustl.edu 37 3 33905540 33905540 + Silent SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 3 33905540 33905540 A G SNP PDCD6IP ENST00000457054 human ensembl 69_37n +1 known silent c.2178 p.S726 0.196 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 58 0 0.00 20 7 25.93 - - - PGR 0 genome.wustl.edu 37 11 100922227 100922227 + Missense_Mutation SNP C C A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 11 100922227 100922227 C A SNP PGR ENST00000325455 human ensembl 69_37n -1 known missense c.2285 p.G762V 0.995 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_rcpt,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_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 60 0 0.00 36 11 23.40 - - - PKP2 0 genome.wustl.edu 37 12 32949226 32949226 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 32949226 32949226 T C SNP PKP2 ENST00000070846 human ensembl 69_37n -1 known missense c.2306 p.E769G 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 37 0 0.00 38 8 17.39 - - - PMS1 0 genome.wustl.edu 37 2 190682787 190682787 + Nonsense_Mutation SNP A A T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 2 190682787 190682787 A T SNP PMS1 ENST00000441310 human ensembl 69_37n +1 known nonsense c.463 p.R155* 1.000 superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 32 0 0.00 27 9 25.00 - - - POM121 0 genome.wustl.edu 37 7 72418986 72418986 + Missense_Mutation SNP T T A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 72418986 72418986 T A SNP POM121 ENST00000395270 human ensembl 69_37n +1 known missense c.2977 p.S993T 0.000 NULL NULL - no_errors POM121 HGNC ENSG00000196313 89 0 0.00 61 16 20.78 - - - RELN 0 genome.wustl.edu 37 7 103214716 103214716 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 103214716 103214716 G A SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.4334 p.P1445L 0.998 superfamily_Growth_fac_rcpt 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 65 0 0.00 29 11 27.50 - - - RPRD1A 0 genome.wustl.edu 37 18 33606996 33606996 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 18 33606996 33606996 G A SNP RPRD1A ENST00000357384 human ensembl 69_37n -1 known missense c.656 p.A219V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1A HGNC ENSG00000141425 81 0 0.00 45 6 11.76 - - - RPTOR 0 genome.wustl.edu 37 17 78897383 78897383 + Silent SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 17 78897383 78897383 G A SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known silent c.2718 p.P906 0.028 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 8 0 0.00 14 23 62.16 - - - RYR2 0 genome.wustl.edu 37 1 237948029 237948029 + Silent SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 237948029 237948029 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.13035 p.Q4345 1.000 pfam_Ryanrecept_TM4-6 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 59 0 0.00 16 11 40.74 - - - SEMA5B 0 genome.wustl.edu 37 3 122630348 122630348 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 3 122630348 122630348 G A SNP SEMA5B ENST00000451541 human ensembl 69_37n -1 putative missense c.218 p.P73L 0.489 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SEMA5B HGNC ENSG00000082684 50 0 0.00 14 7 33.33 - - - SEMG2 0 genome.wustl.edu 37 20 43851246 43851246 + Missense_Mutation SNP A A C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 20 43851246 43851246 A C SNP SEMG2 ENST00000372769 human ensembl 69_37n +1 known missense c.973 p.K325Q 0.002 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 41 0 0.00 41 6 12.77 - - - SLC25A11 0 genome.wustl.edu 37 17 4841331 4841331 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 17 4841331 4841331 T C SNP SLC25A11 ENST00000225665 human ensembl 69_37n -1 known missense c.776 p.Y259C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A11 HGNC ENSG00000108528 49 0 0.00 44 7 13.73 - - - SPPL3 0 genome.wustl.edu 37 12 121222339 121222339 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 121222339 121222339 G C SNP SPPL3 ENST00000353487 human ensembl 69_37n -1 known missense c.248 p.S83C 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 - no_errors SPPL3 HGNC ENSG00000157837 61 0 0.00 14 15 51.72 - - - ST3GAL2 0 genome.wustl.edu 37 16 70432295 70432295 + Missense_Mutation SNP G G A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 16 70432295 70432295 G A SNP ST3GAL2 ENST00000342907 human ensembl 69_37n -1 known missense c.139 p.R47W 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 15 0 0.00 14 7 33.33 - - - STK35 0 genome.wustl.edu 37 20 2097914 2097914 + Missense_Mutation SNP T T G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 20 2097914 2097914 T G SNP STK35 ENST00000381482 human ensembl 69_37n +1 known missense c.1495 p.S499A 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 STK35 HGNC ENSG00000125834 21 0 0.00 13 12 48.00 - - - TNN 0 genome.wustl.edu 37 1 175052955 175052955 + Missense_Mutation SNP A A C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 175052955 175052955 A C SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.1118 p.N373T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 45 0 0.00 17 6 26.09 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 163 0 0.00 36 15 29.41 - - - TRIP12 0 genome.wustl.edu 37 2 230661314 230661315 + Frame_Shift_Ins INS - - A TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 2 230661314 230661315 - A INS TRIP12 ENST00000283943 human ensembl 69_37n -1 known frame_shift_ins c.3584_3583 p.S1195fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 74 0 0.00 40 9 18.37 - - - TRIT1 0 genome.wustl.edu 37 1 40307439 40307439 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 1 40307439 40307439 G C SNP TRIT1 ENST00000316891 human ensembl 69_37n -1 known missense c.1381 p.Q461E 0.000 NULL pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 124 0 0.00 84 17 16.83 - - - TRRAP 0 genome.wustl.edu 37 7 98528347 98528347 + Missense_Mutation SNP T T C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 7 98528347 98528347 T C SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known missense c.3485 p.V1162A 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 TRRAP HGNC ENSG00000196367 110 0 0.00 72 19 20.88 - - - UBA6 0 genome.wustl.edu 37 4 68494810 68494810 + Missense_Mutation SNP C C G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 4 68494810 68494810 C G SNP UBA6 ENST00000322244 human ensembl 69_37n -1 known missense c.2379 p.Q793H 0.991 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 57 0 0.00 30 11 26.83 - - - WBP11P1 0 genome.wustl.edu 37 18 30092243 30092243 + RNA SNP C C G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 18 30092243 30092243 C G SNP WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 65 0 0.00 27 6 18.18 - - - WDR17 0 genome.wustl.edu 37 4 177072997 177072997 + Missense_Mutation SNP C C G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 4 177072997 177072997 C G SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known missense c.2411 p.S804C 1.000 NULL 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 WDR17 HGNC ENSG00000150627 78 0 0.00 56 20 26.32 - - - ZFC3H1 0 genome.wustl.edu 37 12 72009006 72009006 + Silent SNP A A C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 12 72009006 72009006 A C SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known silent c.5235 p.P1745 0.999 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 65 0 0.00 28 21 42.86 - - - ZNF121 0 genome.wustl.edu 37 19 9677328 9677328 + Missense_Mutation SNP C C T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 19 9677328 9677328 C T SNP ZNF121 ENST00000320451 human ensembl 69_37n -1 known missense c.461 p.R154K 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 45 0 0.00 47 8 14.55 - - - ZNF274 0 genome.wustl.edu 37 19 58698334 58698334 + Missense_Mutation SNP G G C TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 19 58698334 58698334 G C SNP ZNF274 ENST00000326804 human ensembl 69_37n +1 known missense c.181 p.D61H 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 21 0 0.00 18 15 45.45 - - - ZNF335 0 genome.wustl.edu 37 20 44598176 44598176 + Missense_Mutation SNP A A G TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 20 44598176 44598176 A G SNP ZNF335 ENST00000322927 human ensembl 69_37n -1 known missense c.356 p.V119A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 14 0 0.00 9 7 43.75 - - - ZNF804A 0 genome.wustl.edu 37 2 185803708 185803708 + Silent SNP G G T TCGA-E9-A1ND-01A-11D-A142-09 TCGA-E9-A1ND-10A-01W-A187-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8e72652d-3b99-47b2-87fe-04b96b243722 c2ad1535-c9a1-410e-9684-a1d0422a02bf 2 185803708 185803708 G T SNP ZNF804A ENST00000302277 human ensembl 69_37n +1 known silent c.3585 p.L1195 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 154 0 0.00 119 14 10.53 - - -