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 ABCC11 0 genome.wustl.edu 37 16 48209200 48209200 + Missense_Mutation SNP G G C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 48209200 48209200 G C SNP ABCC11 ENST00000356608 human ensembl 69_37n -1 known missense c.3667 p.Q1223E 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,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 ABCC11 HGNC ENSG00000121270 47 0 0.00 29 12 29.27 - - - ACTN1 0 genome.wustl.edu 37 14 69387787 69387787 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 14 69387787 69387787 G A SNP ACTN1 ENST00000394419 human ensembl 69_37n -1 known silent c.276 p.N92 0.785 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 200 1 0.50 41 32 43.84 - - - AKAP13 0 genome.wustl.edu 37 15 86198828 86198828 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 15 86198828 86198828 G A SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.4555 p.E1519K 0.987 NULL 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 167 0 0.00 55 23 29.49 - - - ALDH9A1 0 genome.wustl.edu 37 1 165667703 165667703 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 165667703 165667703 G A SNP ALDH9A1 ENST00000354775 human ensembl 69_37n -1 known silent c.93 p.V31 0.369 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 11 0 0.00 31 8 20.51 - - - ANKRD53 0 genome.wustl.edu 37 2 71211878 71211878 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 2 71211878 71211878 G A SNP ANKRD53 ENST00000360589 human ensembl 69_37n +1 putative silent c.1041 p.S347 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD53 HGNC ENSG00000144031 45 0 0.00 44 7 13.73 - - - C1QB 0 genome.wustl.edu 37 1 22987403 22987403 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 22987403 22987403 G A SNP C1QB ENST00000314933 human ensembl 69_37n +1 known missense c.286 p.G96S 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QB HGNC ENSG00000173369 48 0 0.00 34 10 22.73 - - - C1orf127 0 genome.wustl.edu 37 1 11017751 11017751 + Silent SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 11017751 11017751 C T SNP C1orf127 ENST00000377004 human ensembl 69_37n -1 known silent c.615 p.L205 1.000 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 34 0 0.00 22 5 18.52 - - - CAD 0 genome.wustl.edu 37 2 27465222 27465222 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 2 27465222 27465222 G A SNP CAD ENST00000264705 human ensembl 69_37n +1 known missense c.6149 p.G2050E 1.000 pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf_euk pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk - no_errors CAD HGNC ENSG00000084774 42 0 0.00 31 7 18.42 - - - CALN1 0 genome.wustl.edu 37 7 71868340 71868340 + Silent SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 7 71868340 71868340 C T SNP CALN1 ENST00000395275 human ensembl 69_37n -1 known silent c.15 p.E5 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALN1 HGNC ENSG00000183166 42 0 0.00 7 4 36.36 - - - CATSPER2 0 genome.wustl.edu 37 15 43925010 43925010 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 15 43925010 43925010 A - DEL CATSPER2 ENST00000299989 human ensembl 69_37n -1 known frame_shift_del c.1301 p.L434fs 0.001 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 213 0 0.00 10 2 16.67 - - - CD5 0 genome.wustl.edu 37 11 60885726 60885726 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 60885726 60885726 G A SNP CD5 ENST00000347785 human ensembl 69_37n +1 known missense c.174 p.M58I 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5 HGNC ENSG00000110448 127 0 0.00 44 8 15.38 - - - CDH1 0 genome.wustl.edu 37 16 68846043 68846043 + Frame_Shift_Del DEL C C - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 68846043 68846043 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.1014 p.P339fs 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 243 0 0.00 28 16 35.56 - - - CDKL4 0 genome.wustl.edu 37 2 39417556 39417556 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 2 39417556 39417556 G A SNP CDKL4 ENST00000378803 human ensembl 69_37n -1 known missense c.542 p.S181L 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 123 0 0.00 14 6 30.00 - - - CTNNBL1 0 genome.wustl.edu 37 20 36361374 36361374 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 20 36361374 36361374 C T SNP CTNNBL1 ENST00000405275 human ensembl 69_37n +1 known missense c.43 p.R15W 0.840 NULL pfam_DUF1716_euk,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 111 0 0.00 46 11 19.30 - - - CTSG 0 genome.wustl.edu 37 14 25044494 25044494 + Silent SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 14 25044494 25044494 C T SNP CTSG ENST00000216336 human ensembl 69_37n -1 known silent c.180 p.L60 0.993 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 125 0 0.00 68 17 20.00 - - - CYFIP2 0 genome.wustl.edu 37 5 156817668 156817671 + Frame_Shift_Del DEL AAGA AAGA - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 5 156817668 156817671 AAGA - DEL CYFIP2 ENST00000318218 human ensembl 69_37n +1 known frame_shift_del c.3661_3664 p.K1221fs 1.000:1.000:1.000:1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 111 0 0.00 63 11 14.67 - - - DBC1 0 genome.wustl.edu 37 9 121929944 121929944 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 121929944 121929944 G A SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.1704 p.S568 0.822 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 39 0 0.00 18 4 18.18 - - - DENND4C 0 genome.wustl.edu 37 9 19361904 19361904 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 19361904 19361904 A - DEL DENND4C ENST00000380437 human ensembl 69_37n +1 known frame_shift_del c.4612 p.N1538fs 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 182 0 0.00 7 2 22.22 - - - DSPP 0 genome.wustl.edu 37 4 88537234 88537234 + Silent SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 4 88537234 88537234 C T SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3420 p.N1140 0.263 NULL NULL - no_errors DSPP HGNC ENSG00000152591 178 0 0.00 74 9 10.84 - - - ERCC5 0 genome.wustl.edu 37 13 103514694 103514694 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 13 103514694 103514694 G A SNP ERCC5 ENST00000355739 human ensembl 69_37n +1 known missense c.1195 p.E399K 0.940 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 76 0 0.00 16 10 38.46 - - - F11R 0 genome.wustl.edu 37 1 160970527 160970527 + Missense_Mutation SNP G G C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 160970527 160970527 G C SNP F11R ENST00000436182 human ensembl 69_37n -1 known missense c.294 p.I98M 0.986 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC ENSG00000158769 101 0 0.00 46 9 16.36 - - - FAM120C 0 genome.wustl.edu 37 X 54143207 54143207 + Missense_Mutation SNP C C G TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 X 54143207 54143207 C G SNP FAM120C ENST00000375180 human ensembl 69_37n -1 known missense c.2083 p.E695Q 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 115 0 0.00 14 6 30.00 - - - FAM205A 0 genome.wustl.edu 37 9 34726876 34726876 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 34726876 34726876 C T SNP FAM205A ENST00000378788 human ensembl 69_37n -1 novel missense c.361 p.E121K 0.828 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 37 0 0.00 8 4 33.33 - - - FUBP1 0 genome.wustl.edu 37 1 78444657 78444657 + Missense_Mutation SNP G G T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 78444657 78444657 G T SNP FUBP1 ENST00000436586 human ensembl 69_37n -1 known missense c.32 p.S11Y 0.117 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 62 0 0.00 44 7 13.73 - - - GLCE 0 genome.wustl.edu 37 15 69561032 69561032 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 15 69561032 69561032 A - DEL GLCE ENST00000261858 human ensembl 69_37n +1 known frame_shift_del c.1303 p.K435fs 0.999 pfam_C5-epim pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 67 0 0.00 17 2 10.53 - - - GRIA3 0 genome.wustl.edu 37 X 122551281 122551281 + Missense_Mutation SNP C C G TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 X 122551281 122551281 C G SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known missense c.1529 p.T510S 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 171 0 0.00 33 8 19.51 - - - HYDIN 0 genome.wustl.edu 37 16 70891628 70891628 + Missense_Mutation SNP T T C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 70891628 70891628 T C SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.12272 p.N4091S 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 502 1 0.20 91 11 10.78 - - - ITPKB 0 genome.wustl.edu 37 1 226836376 226836376 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 226836376 226836376 C T SNP ITPKB ENST00000272117 human ensembl 69_37n -1 known missense c.2029 p.A677T 1.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 166 0 0.00 65 8 10.96 - - - KIAA1984 0 genome.wustl.edu 37 9 139699835 139699835 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 139699835 139699835 G A SNP KIAA1984 ENST00000338005 human ensembl 69_37n +1 known missense c.874 p.E292K 0.010 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 83 0 0.00 57 15 20.83 - - - KIAA1984 0 genome.wustl.edu 37 9 139700996 139700996 + Missense_Mutation SNP G G C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 139700996 139700996 G C SNP KIAA1984 ENST00000338005 human ensembl 69_37n +1 known missense c.1150 p.E384Q 0.850 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 41 0 0.00 29 10 25.64 - - - MAGEC3 0 genome.wustl.edu 37 X 140969318 140969318 + Missense_Mutation SNP C C G TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 X 140969318 140969318 C G SNP MAGEC3 ENST00000298296 human ensembl 69_37n +1 known missense c.645 p.I215M 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 188 0 0.00 22 6 21.43 - - - MAP3K1 0 genome.wustl.edu 37 5 56178672 56178673 + Frame_Shift_Ins INS - - A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 5 56178672 56178673 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3645_3646 p.I1215fs 0.977:0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 82 0 0.00 12 6 33.33 - - - MINPP1 0 genome.wustl.edu 37 10 89311854 89311854 + Frame_Shift_Del DEL T T - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 10 89311854 89311854 T - DEL MINPP1 ENST00000371996 human ensembl 69_37n +1 known frame_shift_del c.1083 p.S362fs 0.991 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 148 0 0.00 11 2 15.38 - - - MUC5B 0 genome.wustl.edu 37 11 1254322 1254322 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 1254322 1254322 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.2154 p.L718 0.979 pfam_TIL_dom,superfamily_TIL_dom 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 33 0 0.00 33 18 35.29 - - - MXRA5 0 genome.wustl.edu 37 X 3242309 3242309 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 X 3242309 3242309 C T SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.1417 p.G473S 0.049 NULL 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 75 0 0.00 29 6 17.14 - - - MYH1 0 genome.wustl.edu 37 17 10408307 10408307 + Silent SNP A A G TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 17 10408307 10408307 A G SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known silent c.2511 p.Y837 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 331 0 0.00 18 7 28.00 - - - NAV2 0 genome.wustl.edu 37 11 19967967 19967967 + Frame_Shift_Del DEL C C - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 19967967 19967967 C - DEL NAV2 ENST00000396087 human ensembl 69_37n +1 known frame_shift_del c.2236 p.R746fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 97 0 0.00 16 2 11.11 - - - NOLC1 0 genome.wustl.edu 37 10 103920079 103920079 + Missense_Mutation SNP G G C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 10 103920079 103920079 G C SNP NOLC1 ENST00000405356 human ensembl 69_37n +1 known missense c.1108 p.E370Q 0.995 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 95 0 0.00 14 4 22.22 - - - NPC1 0 genome.wustl.edu 37 18 21114508 21114508 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 18 21114508 21114508 C T SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.3493 p.V1165M 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 55 0 0.00 49 19 27.94 - - - NUP214 0 genome.wustl.edu 37 9 134015982 134015982 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 134015982 134015982 A - DEL NUP214 ENST00000451030 human ensembl 69_37n +1 known frame_shift_del c.1179 p.T394fs 0.998 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 277 0 0.00 12 2 14.29 - - - OR52N5 0 genome.wustl.edu 37 11 5799613 5799613 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 5799613 5799613 G A SNP OR52N5 ENST00000317093 human ensembl 69_37n -1 known silent c.252 p.T84 0.003 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_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 72 0 0.00 8 7 46.67 - - - OR7A5 0 genome.wustl.edu 37 19 14938475 14938475 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 19 14938475 14938475 A - DEL OR7A5 ENST00000322301 human ensembl 69_37n -1 known frame_shift_del c.579 p.N195fs 0.003 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 OR7A5 HGNC ENSG00000188269 81 0 0.00 11 2 15.38 - - - PKD1 0 genome.wustl.edu 37 16 2159446 2159446 + Nonsense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 2159446 2159446 G A SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known nonsense c.5722 p.Q1908* 0.002 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 13 0 0.00 16 4 20.00 - - - PLXNA2 0 genome.wustl.edu 37 1 208255805 208255805 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 208255805 208255805 C T SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known missense c.2347 p.V783M 1.000 NULL 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 89 0 0.00 53 9 14.52 - - - PPP4C 0 genome.wustl.edu 37 16 30094768 30094768 + Missense_Mutation SNP G G C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 30094768 30094768 G C SNP PPP4C ENST00000279387 human ensembl 69_37n +1 known missense c.357 p.Q119H 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 58 0 0.00 64 34 34.69 - - - PTDSS2 0 genome.wustl.edu 37 11 489482 489482 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 489482 489482 C T SNP PTDSS2 ENST00000308020 human ensembl 69_37n +1 known missense c.937 p.R313C 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC ENSG00000174915 38 0 0.00 35 10 22.22 - - - PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 16 0 0.00 4 2 33.33 - - - RIMBP2 0 genome.wustl.edu 37 12 130892283 130892283 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 12 130892283 130892283 G A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.2913 p.N971 0.999 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 125 0 0.00 53 11 17.19 - - - RNF216P1 0 genome.wustl.edu 37 7 5024587 5024587 + RNA SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 7 5024587 5024587 G A SNP RNF216P1 ENST00000403969 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNF216P1 HGNC ENSG00000196204 121 0 0.00 35 9 20.45 - - - RORB 0 genome.wustl.edu 37 9 77300402 77300402 + Silent SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 77300402 77300402 C T SNP RORB ENST00000396204 human ensembl 69_37n +1 known silent c.1281 p.I427 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORB HGNC ENSG00000198963 116 0 0.00 27 4 12.90 - - - SAMD3 0 genome.wustl.edu 37 6 130497064 130497064 + Frame_Shift_Del DEL T T - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 6 130497064 130497064 T - DEL SAMD3 ENST00000368134 human ensembl 69_37n -1 known frame_shift_del c.744 p.K248fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 263 0 0.00 9 2 18.18 - - - SPTY2D1 0 genome.wustl.edu 37 11 18636609 18636609 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 11 18636609 18636609 G A SNP SPTY2D1 ENST00000336349 human ensembl 69_37n -1 known silent c.1212 p.S404 0.681 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 27 0 0.00 19 5 20.83 - - - STAC3 0 genome.wustl.edu 37 12 57638000 57638000 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 12 57638000 57638000 G A SNP STAC3 ENST00000557176 human ensembl 69_37n -1 known missense c.242 p.S81L 0.715 NULL NULL - no_errors STAC3 HGNC ENSG00000185482 120 1 0.83 44 15 25.42 - - - TAS2R30 0 genome.wustl.edu 37 12 11286524 11286524 + Frame_Shift_Del DEL A A - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 12 11286524 11286524 A - DEL TAS2R30 ENST00000539585 human ensembl 69_37n -1 known frame_shift_del c.320 p.L107fs 0.622 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 142 0 0.00 7 2 22.22 - - - TMEM104 0 genome.wustl.edu 37 17 72786402 72786402 + Missense_Mutation SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 17 72786402 72786402 G A SNP TMEM104 ENST00000335464 human ensembl 69_37n +1 known missense c.313 p.E105K 1.000 NULL pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 74 0 0.00 46 6 11.54 - - - TMEM141 0 genome.wustl.edu 37 9 139686770 139686770 + Silent SNP C C G TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 9 139686770 139686770 C G SNP TMEM141 ENST00000290079 human ensembl 69_37n +1 known silent c.273 p.L91 1.000 NULL NULL - no_errors TMEM141 HGNC ENSG00000244187 84 0 0.00 37 8 17.78 - - - TRAPPC2L 0 genome.wustl.edu 37 16 88926159 88926159 + Splice_Site SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 16 88926159 88926159 G A SNP TRAPPC2L ENST00000301021 human ensembl 69_37n +1 known splice_site c.294+1 e3+1 1.000 - - - no_errors TRAPPC2L HGNC ENSG00000167515 165 0 0.00 25 6 19.35 - - - TRMT2A 0 genome.wustl.edu 37 22 20102144 20102144 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 22 20102144 20102144 C T SNP TRMT2A ENST00000252136 human ensembl 69_37n -1 known missense c.1186 p.D396N 1.000 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 79 0 0.00 34 19 35.85 - - - TXNIP 0 genome.wustl.edu 37 1 145439000 145439000 + Silent SNP T T C TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 1 145439000 145439000 T C SNP TXNIP ENST00000369317 human ensembl 69_37n +1 known silent c.198 p.T66 0.829 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ENSG00000117289 142 0 0.00 70 37 34.58 - - - UBA6 0 genome.wustl.edu 37 4 68529634 68529634 + Frame_Shift_Del DEL T T - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 4 68529634 68529634 T - DEL UBA6 ENST00000322244 human ensembl 69_37n -1 known frame_shift_del c.929 p.K310fs 0.998 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 212 0 0.00 5 2 28.57 - - - UBOX5 0 genome.wustl.edu 37 20 3096074 3096074 + Missense_Mutation SNP C C T TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 20 3096074 3096074 C T SNP UBOX5 ENST00000217173 human ensembl 69_37n -1 known missense c.1294 p.E432K 1.000 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC ENSG00000185019 52 0 0.00 49 11 18.33 - - - URB1 0 genome.wustl.edu 37 21 33744886 33744886 + Frame_Shift_Del DEL G G - TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 21 33744886 33744886 G - DEL URB1 ENST00000382751 human ensembl 69_37n -1 known frame_shift_del c.931 p.L311fs 1.000 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 113 0 0.00 15 2 11.76 - - - ZDHHC20 0 genome.wustl.edu 37 13 21955625 21955625 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 13 21955625 21955625 G A SNP ZDHHC20 ENST00000400590 human ensembl 69_37n -1 known silent c.1008 p.D336 0.996 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 273 0 0.00 34 8 19.05 - - - ZNFX1 0 genome.wustl.edu 37 20 47882678 47882678 + Silent SNP G G A TCGA-A2-A0YD-01A-11D-A10G-09 TCGA-A2-A0YD-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 30c9f9e5-90b2-4c73-bce5-eb6a3d31f496 d770c579-5a94-4ac5-a6db-3151b33e3a22 20 47882678 47882678 G A SNP ZNFX1 ENST00000371752 human ensembl 69_37n -1 known silent c.1996 p.L666 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 136 0 0.00 7 4 36.36 - - -