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 ABI3BP 0 genome.wustl.edu 37 3 100595366 100595366 + Missense_Mutation SNP G G T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 100595366 100595366 G T SNP ABI3BP ENST00000483129 human ensembl 69_37n -1 novel missense c.82 p.H28N 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABI3BP HGNC ENSG00000154175 185 0 0.00 250 125 32.98 - - - ADAMTS9 0 genome.wustl.edu 37 3 64587686 64587686 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 64587686 64587686 C T SNP ADAMTS9 ENST00000481060 human ensembl 69_37n -1 known missense c.1118 p.G373E 0.262 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ADAMTS9 HGNC ENSG00000163638 108 0 0.00 103 19 15.57 - - - ADCY1 0 genome.wustl.edu 37 7 45717647 45717647 + Silent SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 7 45717647 45717647 C T SNP ADCY1 ENST00000297323 human ensembl 69_37n +1 known silent c.1785 p.V595 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 103 0 0.00 75 34 30.63 - - - AP1G1 0 genome.wustl.edu 37 16 71792720 71792720 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 16 71792720 71792720 G A SNP AP1G1 ENST00000433195 human ensembl 69_37n -1 known missense c.1148 p.S383L 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 113 0 0.00 88 16 15.24 - - - C1orf61 0 genome.wustl.edu 37 1 156389981 156389982 + Frame_Shift_Ins INS - - G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 1 156389981 156389982 - G INS C1orf61 ENST00000368242 human ensembl 69_37n -1 known frame_shift_ins c.148_147 p.S49fs 0.000:0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region C1orf61 HGNC ENSG00000125462 28 0 0.00 21 3 12.50 - - - C3orf52 0 genome.wustl.edu 37 3 111821786 111821786 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 111821786 111821786 G A SNP C3orf52 ENST00000431717 human ensembl 69_37n +1 known missense c.370 p.E124K 0.512 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 81 0 0.00 112 15 11.72 - - - CACUL1 0 genome.wustl.edu 37 10 120450820 120450820 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 10 120450820 120450820 C T SNP CACUL1 ENST00000369151 human ensembl 69_37n -1 known missense c.982 p.D328N 1.000 NULL pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 59 0 0.00 65 19 22.62 - - - CASP8 0 genome.wustl.edu 37 2 202137448 202137448 + Missense_Mutation SNP A A C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 202137448 202137448 A C SNP CASP8 ENST00000358485 human ensembl 69_37n +1 known missense c.676 p.I226L 0.000 pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC ENSG00000064012 213 0 0.00 223 35 13.46 - - - CCNG2 0 genome.wustl.edu 37 4 78080581 78080581 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 4 78080581 78080581 C T SNP CCNG2 ENST00000316355 human ensembl 69_37n +1 known missense c.200 p.A67V 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC ENSG00000138764 146 0 0.00 116 30 20.27 - - - CLASP1 0 genome.wustl.edu 37 2 122161955 122161955 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 122161955 122161955 G A SNP CLASP1 ENST00000263710 human ensembl 69_37n -1 known missense c.2725 p.H909Y 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 173 0 0.00 233 41 14.86 - - - CLEC16A 0 genome.wustl.edu 37 16 11137916 11137916 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 16 11137916 11137916 G A SNP CLEC16A ENST00000409790 human ensembl 69_37n +1 known missense c.1802 p.R601Q 0.951 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 100 0 0.00 83 16 16.16 - - - CLEC6A 0 genome.wustl.edu 37 12 8618227 8618227 + Splice_Site SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 8618227 8618227 T C SNP CLEC6A ENST00000382073 human ensembl 69_37n +1 known splice_site c.369+2 e4+2 0.946 - - - no_errors CLEC6A HGNC ENSG00000205846 99 0 0.00 74 25 25.25 - - - CRX 0 genome.wustl.edu 37 19 48343000 48343000 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 48343000 48343000 G A SNP CRX ENST00000221996 human ensembl 69_37n +1 known missense c.676 p.V226M 1.000 pfam_Otx_TF_C pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors CRX HGNC ENSG00000105392 113 0 0.00 129 22 14.57 - - - DCLRE1C 0 genome.wustl.edu 37 10 14951002 14951002 + Missense_Mutation SNP C C G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 10 14951002 14951002 C G SNP DCLRE1C ENST00000378278 human ensembl 69_37n -1 known missense c.1484 p.R495T 0.140 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 108 0 0.00 97 36 26.28 - - - DGKG 0 genome.wustl.edu 37 3 185986615 185986615 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 185986615 185986615 C T SNP DGKG ENST00000265022 human ensembl 69_37n -1 known missense c.1091 p.R364Q 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd 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 DGKG HGNC ENSG00000058866 106 0 0.00 43 57 57.00 - - - DPYS 0 genome.wustl.edu 37 8 105479017 105479018 + Frame_Shift_Ins INS - - C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 8 105479017 105479018 - C INS DPYS ENST00000351513 human ensembl 69_37n -1 known frame_shift_ins c.132_131 p.A45fs 0.000:0.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 19 0 0.00 12 2 14.29 - - - ESAM 0 genome.wustl.edu 37 11 124626494 124626494 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 124626494 124626494 C T SNP ESAM ENST00000278927 human ensembl 69_37n -1 known missense c.394 p.D132N 0.006 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors ESAM HGNC ENSG00000149564 82 0 0.00 38 9 19.15 - - - FAM176C 0 genome.wustl.edu 37 21 33873789 33873789 + Missense_Mutation SNP G G C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 21 33873789 33873789 G C SNP FAM176C ENST00000300255 human ensembl 69_37n +1 known missense c.843 p.Q281H 1.000 NULL pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom - no_errors FAM176C HGNC ENSG00000166979 161 0 0.00 188 33 14.67 - - - FARP2 0 genome.wustl.edu 37 2 242396201 242396201 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 242396201 242396201 G A SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known missense c.1451 p.R484Q 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 37 0 0.00 30 7 17.95 - - - FCGBP 0 genome.wustl.edu 37 19 40368696 40368696 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 40368696 40368696 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.12652 p.G4218S 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 296 0 0.00 193 44 18.26 - - - GIMAP7 0 genome.wustl.edu 37 7 150217906 150217906 + Missense_Mutation SNP A A G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 7 150217906 150217906 A G SNP GIMAP7 ENST00000313543 human ensembl 69_37n +1 known missense c.844 p.K282E 0.000 NULL pfam_AIG1 - no_errors GIMAP7 HGNC ENSG00000179144 26 0 0.00 60 12 16.44 - - - GTPBP1 0 genome.wustl.edu 37 22 39122087 39122088 + Frame_Shift_Ins INS - - C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 22 39122087 39122088 - C INS GTPBP1 ENST00000216044 human ensembl 69_37n +1 known frame_shift_ins c.1150_1151 p.R386fs 1.000:1.000 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 142 0 0.00 61 7 10.29 - - - GYLTL1B 0 genome.wustl.edu 37 11 45948372 45948373 + Frame_Shift_Ins INS - - C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 45948372 45948373 - C INS GYLTL1B ENST00000325468 human ensembl 69_37n +1 known frame_shift_ins c.1275_1276 p.R427fs 0.002:0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 25 0 0.00 11 4 26.67 - - - HABP4 0 genome.wustl.edu 37 9 99228042 99228042 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 9 99228042 99228042 G A SNP HABP4 ENST00000375249 human ensembl 69_37n +1 known missense c.725 p.G242E 0.963 pfam_HABP4_PAIRBP1-bd pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 816 1 0.12 476 105 17.95 - - - HOXC4 0 genome.wustl.edu 37 12 54448689 54448689 + Silent SNP G G C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 54448689 54448689 G C SNP HOXC4 ENST00000303406 human ensembl 69_37n +1 known silent c.495 p.R165 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_antennapedia pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 HGNC ENSG00000198353 33 0 0.00 47 8 14.04 - - - HSPA8 0 genome.wustl.edu 37 11 122930605 122930605 + Missense_Mutation SNP A A C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 122930605 122930605 A C SNP HSPA8 ENST00000534624 human ensembl 69_37n -1 known missense c.696 p.D232E 0.997 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 80 0 0.00 51 7 12.07 - - - HYLS1 0 genome.wustl.edu 37 11 125769927 125769927 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 125769927 125769927 G A SNP HYLS1 ENST00000356438 human ensembl 69_37n +1 known missense c.664 p.D222N 1.000 NULL NULL - no_errors HYLS1 HGNC ENSG00000198331 91 0 0.00 71 24 25.00 - - - ITGB4 0 genome.wustl.edu 37 17 73723581 73723581 + Frame_Shift_Del DEL A A - TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 17 73723581 73723581 A - DEL ITGB4 ENST00000200181 human ensembl 69_37n +1 known frame_shift_del c.259 p.T87fs 0.001 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 44 0 0.00 23 58 69.88 - - - LRPPRC 0 genome.wustl.edu 37 2 44174410 44174410 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 44174410 44174410 G A SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.2065 p.L689F 0.948 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 149 0 0.00 213 41 16.08 - - - MYO10 0 genome.wustl.edu 37 5 16666900 16666900 + Silent SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 5 16666900 16666900 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known silent c.6078 p.V2026 1.000 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 71 0 0.00 59 14 18.92 - - - NAP1L3 0 genome.wustl.edu 37 X 92927934 92927934 + Silent SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e X 92927934 92927934 G A SNP NAP1L3 ENST00000373079 human ensembl 69_37n -1 known silent c.370 p.L124 0.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 45 0 0.00 33 4 10.81 - - - NCOR1 0 genome.wustl.edu 37 17 16024444 16024444 + Nonsense_Mutation SNP C C A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 17 16024444 16024444 C A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.1774 p.E592* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 68 0 0.00 35 36 50.00 - - - NEB 0 genome.wustl.edu 37 2 152394411 152394411 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 152394411 152394411 C T SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.21077 p.R7026Q 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 199 1 0.50 148 34 18.28 - - - OGDH 0 genome.wustl.edu 37 7 44747227 44747228 + Frame_Shift_Ins INS - - C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 7 44747227 44747228 - C INS OGDH ENST00000222673 human ensembl 69_37n +1 known frame_shift_ins c.2843_2844 p.N950fs 1.000:1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 50 0 0.00 41 6 12.77 - - - OR2L13 0 genome.wustl.edu 37 1 248263384 248263384 + Missense_Mutation SNP C C G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 1 248263384 248263384 C G SNP OR2L13 ENST00000358120 human ensembl 69_37n +1 known missense c.707 p.A236G 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,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 OR2L13 HGNC ENSG00000196071 198 0 0.00 287 36 11.04 - - - OR6A2 0 genome.wustl.edu 37 11 6816119 6816119 + Missense_Mutation SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 6816119 6816119 T C SNP OR6A2 ENST00000332601 human ensembl 69_37n -1 known missense c.821 p.D274G 0.996 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 OR6A2 HGNC ENSG00000184933 104 0 0.00 107 26 19.55 - - - OR6C76 0 genome.wustl.edu 37 12 55820958 55820959 + Frame_Shift_Ins INS - - A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 55820958 55820959 - A INS OR6C76 ENST00000328314 human ensembl 69_37n +1 known frame_shift_ins c.921_922 p.K311fs 0.003:0.016 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 12 0 0.00 20 3 13.04 - - - OR6C76 0 genome.wustl.edu 37 12 55820959 55820959 + Frame_Shift_Del DEL A A - TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 55820959 55820959 A - DEL OR6C76 ENST00000328314 human ensembl 69_37n +1 known frame_shift_del c.922 p.K311fs 0.016 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 12 0 0.00 11 7 33.33 - - - PCDHGA1 0 genome.wustl.edu 37 5 140711927 140711927 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 5 140711927 140711927 C T SNP PCDHGA1 ENST00000517417 human ensembl 69_37n +1 known missense c.1676 p.A559V 0.077 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 39 0 0.00 51 19 26.76 - - - PCP2 0 genome.wustl.edu 37 19 7696695 7696695 + Splice_Site SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 7696695 7696695 C T SNP PCP2 ENST00000311069 human ensembl 69_37n -1 known splice_site c.292-1 e4-1 0.999 - - - no_errors PCP2 HGNC ENSG00000174788 71 0 0.00 55 17 23.61 - - - PIH1D1 0 genome.wustl.edu 37 19 49949895 49949896 + Frame_Shift_Ins INS - - C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 49949895 49949896 - C INS PIH1D1 ENST00000262265 human ensembl 69_37n -1 known frame_shift_ins c.744_743 p.Q250fs 0.990:0.994 NULL NULL - no_errors PIH1D1 HGNC ENSG00000104872 45 0 0.00 35 4 10.26 - - - PIK3CA 0 genome.wustl.edu 37 3 178928219 178928220 + In_Frame_Ins INS - - ATA TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 178928219 178928220 - ATA INS PIK3CA ENST00000263967 human ensembl 69_37n +1 known in_frame_ins c.1405_1406 p.E469in_frame_insDK 1.000:1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 65 0 0.00 94 21 18.26 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 66 0 0.00 57 83 57.64 - - - PLXNA2 0 genome.wustl.edu 37 1 208391175 208391176 + Frame_Shift_Ins INS - - G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 1 208391175 208391176 - G INS PLXNA2 ENST00000367033 human ensembl 69_37n -1 known frame_shift_ins c.93_92 p.A32fs 0.000:0.000 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 PLXNA2 HGNC ENSG00000076356 33 0 0.00 46 7 13.21 - - - RSF1 0 genome.wustl.edu 37 11 77412285 77412285 + Missense_Mutation SNP T T G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 11 77412285 77412285 T G SNP RSF1 ENST00000308488 human ensembl 69_37n -1 known missense c.1989 p.K663N 0.002 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 93 0 0.00 92 22 19.30 - - - SF3B1 0 genome.wustl.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 198266834 198266834 T C SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.2098 p.K700E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 44 0 0.00 47 35 42.17 - - - SMAD7 0 genome.wustl.edu 37 18 46474794 46474795 + Frame_Shift_Ins INS - - G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 18 46474794 46474795 - G INS SMAD7 ENST00000262158 human ensembl 69_37n -1 known frame_shift_ins c.627_626 p.P210fs 1.000:1.000 superfamily_SMAD_FHA_domain 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 SMAD7 HGNC ENSG00000101665 18 0 0.00 9 3 25.00 - - - SPG11 0 genome.wustl.edu 37 15 44864968 44864968 + Missense_Mutation SNP G G C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 15 44864968 44864968 G C SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known missense c.6256 p.L2086V 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 159 0 0.00 125 16 11.27 - - - TESK2 0 genome.wustl.edu 37 1 45923438 45923438 + Missense_Mutation SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 1 45923438 45923438 T C SNP TESK2 ENST00000372086 human ensembl 69_37n -1 known missense c.20 p.N7S 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 298 0 0.00 242 129 34.77 - - - TGIF2 0 genome.wustl.edu 37 20 35219587 35219587 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 20 35219587 35219587 C T SNP TGIF2 ENST00000373872 human ensembl 69_37n +1 known missense c.467 p.P156L 0.973 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2 HGNC ENSG00000118707 45 0 0.00 40 14 25.00 - - - TMCC3 0 genome.wustl.edu 37 12 94965266 94965266 + Missense_Mutation SNP C C G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 94965266 94965266 C G SNP TMCC3 ENST00000261226 human ensembl 69_37n -1 known missense c.1379 p.C460S 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 216 0 0.00 201 35 14.77 - - - TRAK1 0 genome.wustl.edu 37 3 42229603 42229603 + Nonsense_Mutation SNP G G T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 42229603 42229603 G T SNP TRAK1 ENST00000396175 human ensembl 69_37n +1 known nonsense c.373 p.E125* 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 150 0 0.00 56 39 41.05 - - - UBA2 0 genome.wustl.edu 37 19 34960012 34960012 + Silent SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 34960012 34960012 C T SNP UBA2 ENST00000246548 human ensembl 69_37n +1 known silent c.1809 p.V603 0.011 NULL pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 84 0 0.00 78 28 26.17 - - - UBE3B 0 genome.wustl.edu 37 12 109959017 109959017 + Missense_Mutation SNP T T C TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 12 109959017 109959017 T C SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.2141 p.F714S 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 124 0 0.00 50 29 36.71 - - - USH2A 0 genome.wustl.edu 37 1 215802376 215802376 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 1 215802376 215802376 C T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.15371 p.G5124E 1.000 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 99 0 0.00 102 28 21.37 - - - XDH 0 genome.wustl.edu 37 2 31595149 31595149 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 2 31595149 31595149 C T SNP XDH ENST00000379416 human ensembl 69_37n -1 known missense c.1801 p.E601K 0.397 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 52 0 0.00 32 7 17.50 - - - ZBBX 0 genome.wustl.edu 37 3 167034856 167034856 + Silent SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 3 167034856 167034856 C T SNP ZBBX ENST00000307529 human ensembl 69_37n -1 known silent c.1131 p.L377 0.953 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 133 0 0.00 240 40 14.23 - - - ZMYND8 0 genome.wustl.edu 37 20 45867732 45867732 + Missense_Mutation SNP G G A TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 20 45867732 45867732 G A SNP ZMYND8 ENST00000536340 human ensembl 69_37n -1 known missense c.2456 p.P819L 0.830 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 74 0 0.00 38 14 26.42 - - - ZNF420 0 genome.wustl.edu 37 19 37618814 37618814 + Nonsense_Mutation SNP T T G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 37618814 37618814 T G SNP ZNF420 ENST00000337995 human ensembl 69_37n +1 known nonsense c.921 p.Y307* 0.995 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 ZNF420 HGNC ENSG00000197050 75 0 0.00 96 26 21.14 - - - ZNF609 0 genome.wustl.edu 37 15 64792134 64792134 + Silent SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 15 64792134 64792134 C T SNP ZNF609 ENST00000326648 human ensembl 69_37n +1 known silent c.516 p.S172 0.987 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 160 0 0.00 163 65 28.38 - - - ZSCAN5A 0 genome.wustl.edu 37 19 56734011 56734011 + Missense_Mutation SNP C C T TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 56734011 56734011 C T SNP ZSCAN5A ENST00000391713 human ensembl 69_37n -1 known missense c.688 p.E230K 0.257 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 478 0 0.00 332 51 13.28 - - - ZSCAN5A 0 genome.wustl.edu 37 19 56735006 56735006 + Missense_Mutation SNP C C G TCGA-A2-A0EV-01A-11W-A050-09 TCGA-A2-A0EV-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9433bf4f-23ba-4fe7-9503-1ad243d74225 633b376d-d59f-4f31-8d1a-0b1d89650a8e 19 56735006 56735006 C G SNP ZSCAN5A ENST00000391713 human ensembl 69_37n -1 known missense c.582 p.R194S 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 85 0 0.00 67 9 11.84 - - -