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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val PRKDC 0 genome.wustl.edu 37 8 48866457 48866457 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 8 48866457 48866457 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.531 p.L177 0.879 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 14 0 0.00 7 11 61.11 66 1 1.49 39 37 48.68 MYH2 0 genome.wustl.edu 37 17 10436721 10436721 + Silent SNP A A G TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 17 10436721 10436721 A G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.2322 p.G774 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 41 0 0.00 17 13 43.33 92 0 0.00 16 20 55.56 NFATC1 0 genome.wustl.edu 37 18 77170842 77170842 + Silent SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 18 77170842 77170842 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known silent c.567 p.Y189 0.595 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 tier1 rs140225213 GMAF=0.0005 30 0 0.00 38 5 11.63 40 0 0.00 16 2 11.11 RBBP6 0 genome.wustl.edu 37 16 24583338 24583338 + Missense_Mutation SNP T T A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 16 24583338 24583338 T A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4951 p.S1651T 0.998 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 18 0 0.00 10 6 37.50 53 0 0.00 43 8 15.69 KIAA1958 0 genome.wustl.edu 37 9 115337138 115337138 + Missense_Mutation SNP A A T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 9 115337138 115337138 A T SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.778 p.I260F 0.998 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 tier1 - - 13 0 0.00 4 6 60.00 77 0 0.00 18 18 50.00 MET 0 genome.wustl.edu 37 7 116397813 116397813 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 7 116397813 116397813 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.2087 p.T696I 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 47 0 0.00 27 9 25.00 94 0 0.00 41 28 40.58 CYP11B2 0 genome.wustl.edu 37 8 143994116 143994116 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 8 143994116 143994116 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.1228 p.L410 0.893 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 56 0 0.00 66 12 15.38 62 0 0.00 34 6 15.00 ZFYVE9 0 genome.wustl.edu 37 1 52744179 52744179 + Missense_Mutation SNP A A G TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 52744179 52744179 A G SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.2762 p.E921G 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 35 0 0.00 35 31 46.97 70 0 0.00 36 26 41.94 CNR1 0 genome.wustl.edu 37 6 88854252 88854252 + Missense_Mutation SNP C C A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 6 88854252 88854252 C A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.742 p.A248S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 8 0 0.00 6 7 53.85 101 0 0.00 48 32 40.00 WDR65 0 genome.wustl.edu 37 1 43650876 43650876 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 43650876 43650876 C T SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.818 p.A273V 0.000 superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 tier1 - - 39 0 0.00 40 7 14.89 94 0 0.00 80 19 19.00 DLGAP2 0 genome.wustl.edu 37 8 1626652 1626652 + Missense_Mutation SNP A A C TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 8 1626652 1626652 A C SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2321 p.D774A 0.880 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 54 0 0.00 46 11 19.30 31 0 0.00 22 5 18.52 PCNXL2 0 genome.wustl.edu 37 1 233121872 233121872 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 233121872 233121872 C T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.6206 p.G2069D 1.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 35 0 0.00 25 10 28.57 38 0 0.00 26 5 16.13 RBFOX1 0 genome.wustl.edu 37 16 7568226 7568226 + Missense_Mutation SNP C C A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 16 7568226 7568226 C A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.234 p.N78K 1.000 pirsf_R-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 tier1 - - 33 0 0.00 8 10 55.56 45 0 0.00 35 9 20.45 PCDHB1 0 genome.wustl.edu 37 5 140433279 140433279 + Missense_Mutation SNP C C A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 5 140433279 140433279 C A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.2224 p.Q742K 0.056 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 26 0 0.00 9 11 55.00 48 0 0.00 27 25 48.08 TP53 0 genome.wustl.edu 37 17 7577505 7577505 + Missense_Mutation SNP T T A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 17 7577505 7577505 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.776 p.D259V 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 35 0 0.00 9 22 70.97 95 0 0.00 10 38 79.17 NRF1 0 genome.wustl.edu 37 7 129311328 129311328 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 7 129311328 129311328 C T SNP NRF1 ENST00000393231 human ensembl 74_37 +1 known missense c.283 p.H95Y 1.000 pfam_Nrf1_NLS/D-bd_dimer pfam_Nrf1_NLS/D-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 tier1 - - 31 0 0.00 26 5 16.13 112 0 0.00 35 13 27.08 PARVB 0 genome.wustl.edu 37 22 44543775 44543775 + Silent SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 22 44543775 44543775 C T SNP PARVB ENST00000406477 human ensembl 74_37 +1 known silent c.846 p.A282 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 tier1 - - 22 0 0.00 18 7 28.00 74 0 0.00 49 11 18.33 ELAVL3 0 genome.wustl.edu 37 19 11569017 11569017 + Missense_Mutation SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 19 11569017 11569017 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.572 p.P191L 0.998 smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_R,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_R,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 tier1 rs148057857 - 35 0 0.00 29 6 17.14 53 0 0.00 34 6 15.00 CHL1 0 genome.wustl.edu 37 3 424203 424203 + Missense_Mutation SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 3 424203 424203 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2025 p.W675C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 41 0 0.00 39 10 20.41 111 0 0.00 44 9 16.98 FGB 0 genome.wustl.edu 37 4 155489556 155489556 + Missense_Mutation SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 4 155489556 155489556 G A SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.742 p.G248R 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 tier1 - - 32 0 0.00 12 11 47.83 62 0 0.00 53 28 34.57 CNTN6 0 genome.wustl.edu 37 3 1371493 1371493 + Missense_Mutation SNP G G C TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 3 1371493 1371493 G C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1238 p.S413T 0.958 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 45 0 0.00 53 7 11.48 105 0 0.00 83 17 17.00 AP3D1 0 genome.wustl.edu 37 19 2115549 2115549 + Missense_Mutation SNP A A T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 19 2115549 2115549 A T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.2137 p.L713M 0.254 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 tier1 - - 32 0 0.00 21 12 36.36 34 0 0.00 24 6 20.00 GIMAP8 0 genome.wustl.edu 37 7 150174802 150174802 + Missense_Mutation SNP T T G TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 7 150174802 150174802 T G SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1932 p.I644M 0.000 pfam_AIG1 pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 56 0 0.00 37 17 30.91 151 1 0.66 70 24 25.53 KLKB1 0 genome.wustl.edu 37 4 187171526 187171526 + Missense_Mutation SNP A A T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 4 187171526 187171526 A T SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.728 p.Y243F 0.929 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 tier1 - - 48 0 0.00 37 10 21.28 84 0 0.00 53 39 42.39 UNC93A 0 genome.wustl.edu 37 6 167728838 167728838 + Silent SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 6 167728838 167728838 G T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.1272 p.A424 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 tier1 - - 79 0 0.00 77 22 22.22 144 1 0.68 91 38 29.46 MACF1 0 genome.wustl.edu 37 1 39798401 39798401 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 39798401 39798401 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.6252 p.Q2084 0.003 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 13 0 0.00 5 6 54.55 74 0 0.00 18 50 73.53 ZAN 0 genome.wustl.edu 37 7 100344302 100344302 + Missense_Mutation SNP T T C TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 7 100344302 100344302 T C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.908 p.L303P 0.089 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 33 0 0.00 9 16 64.00 92 0 0.00 24 22 47.83 TSHZ3 0 genome.wustl.edu 37 19 31769390 31769390 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 19 31769390 31769390 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1309 p.L437 0.954 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 40 0 0.00 24 10 29.41 69 0 0.00 32 20 37.74 WDHD1 0 genome.wustl.edu 37 14 55480246 55480246 + Missense_Mutation SNP T T A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 14 55480246 55480246 T A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.146 p.K49M 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 tier1 - - 29 0 0.00 9 7 43.75 92 0 0.00 44 31 41.33 ATP10B 0 genome.wustl.edu 37 5 159992826 159992826 + Missense_Mutation SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 5 159992826 159992826 G T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.4020 p.D1340E 0.921 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 22 0 0.00 12 17 58.62 83 0 0.00 17 36 67.92 PIAS1 0 genome.wustl.edu 37 15 68468089 68468089 + Frame_Shift_Del DEL T T - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 15 68468089 68468089 T - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known frame_shift_del c.1284 p.Y429fs 0.985 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 tier1 39 0 0.00 23 11 32.35 110 0 0.00 60 24 28.57 DLC1 0 genome.wustl.edu 37 8 12943086 12943087 + R DEL TT TT - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 TT TT TT - TT TT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 8 12943086 12943087 TT - DEL DLC1 ENST00000510318 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DLC1 HGNC ENSG00000164741 tier1 23 0 0.00 23 3 11.54 11 0 0.00 18 2 10.00 COL23A1 0 genome.wustl.edu 37 5 177683352 177683352 + Splice_Site SNP A A T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 5 177683352 177683352 A T SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known splice_site c.882+2 e15+2 1.000 - - - no_errors COL23A1 HGNC ENSG00000050767 tier1 - - 48 0 0.00 57 26 31.33 19 0 0.00 7 2 22.22 IL2RB 0 genome.wustl.edu 37 22 37524543 37524543 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 22 37524543 37524543 C T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.1249 p.A417T 0.086 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 tier1 - - 29 0 0.00 11 9 45.00 16 0 0.00 9 6 40.00 PIGG 0 genome.wustl.edu 37 4 493032 493032 + R SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 4 493032 493032 G A SNP PIGG ENST00000502311 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PIGG HGNC ENSG00000174227 tier1 - - 15 0 0.00 12 12 50.00 16 0 0.00 6 3 33.33 C1orf198 0 genome.wustl.edu 37 1 231004075 231004075 + Missense_Mutation SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 231004075 231004075 G A SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known missense c.184 p.P62S 1.000 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 tier1 - - 35 0 0.00 26 4 13.33 12 0 0.00 4 0 0.00 CHPF 0 genome.wustl.edu 37 2 220404162 220404162 + Silent SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 2 220404162 220404162 G T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.2271 p.G757 1.000 pfam_Chond_Galc pfam_Chond_Galc - no_errors CHPF HGNC ENSG00000123989 tier1 - - 62 0 0.00 33 4 10.81 41 0 0.00 6 0 0.00 EDF1 0 genome.wustl.edu 37 9 139760677 139760677 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 9 139760677 139760677 G A SNP EDF1 ENST00000224073 human ensembl 74_37 -1 known silent c.34 p.L12 1.000 pfam_MBF1_N pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_D-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH - no_errors EDF1 HGNC ENSG00000107223 tier1 - - 54 0 0.00 18 17 48.57 8 0 0.00 3 0 0.00 HERC2P4 0 genome.wustl.edu 37 16 32163469 32163469 + R SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 16 32163469 32163469 G A SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 98 0 0.00 52 10 16.13 9 0 0.00 2 0 0.00 INPP5D 0 genome.wustl.edu 37 2 234106746 234106746 + Missense_Mutation SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 2 234106746 234106746 C T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.2663 p.P888L 0.193 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 43 0 0.00 16 4 19.05 30 0 0.00 6 0 0.00 WDR81 0 genome.wustl.edu 37 17 1631292 1631292 + Silent SNP G G A TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 17 1631292 1631292 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known silent c.3039 p.A1013 0.912 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 25 0 0.00 6 6 50.00 9 0 0.00 1 0 0.00 ENSG00000215954 0 genome.wustl.edu 37 11 112118610 112118619 + R DEL ACACACACAC ACACACACAC - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 ACACACACAC ACACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 11 112118610 112118619 ACACACACAC - DEL ENSG00000215954 ENST00000401135 human ensembl 74_37 +1 novel rna NULL NULL 0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059:0.067:0.070 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000215954 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000230615 0 genome.wustl.edu 37 1 44569973 44569974 + R INS - - TCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 1 44569973 44569974 - TCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT INS ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 0 0 0.00 4 0 0.00 0 0 0.00 4 0 0.00 FOXK1 0 genome.wustl.edu 37 7 4722449 4722449 + Silent SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 7 4722449 4722449 G T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known silent c.510 p.V170 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 21 0 0.00 10 10 50.00 3 0 0.00 4 0 0.00 IRF2BPL 0 genome.wustl.edu 37 14 77493792 77493794 + In_Frame_Del DEL TGT TGT - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 14 77493792 77493794 TGT - DEL IRF2BPL ENST00000238647 human ensembl 74_37 -1 known in_frame_del c.344_342 p.Q118in_frame_del 0.050:0.052:0.060 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 8 0 0.00 7 5 41.67 0 0 0.00 0 0 0.00 MAML3 0 genome.wustl.edu 37 4 140811111 140811111 + Silent SNP C C T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 4 140811111 140811111 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1479 p.Q493 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 rs62344937 - 24 0 0.00 22 5 18.52 0 0 0.00 0 1 100.00 PGAM1P5 0 genome.wustl.edu 37 12 96066670 96066670 + R SNP G G T TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 12 96066670 96066670 G T SNP PGAM1P5 ENST00000552554 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PGAM1P5 HGNC ENSG00000257150 tier1 - - 42 0 0.00 30 14 31.82 1 0 0.00 5 0 0.00 RANBP2 0 genome.wustl.edu 37 2 109368152 109368152 + Missense_Mutation SNP A A G TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 2 109368152 109368152 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.1624 p.K542E 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 74 0 0.00 47 8 14.29 0 0 0.00 0 0 0.00 WDR59 0 genome.wustl.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 16 74976691 74976691 T - DEL WDR59 ENST00000262144 human ensembl 74_37 -1 known frame_shift_del c.479 p.N160fs 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 tier1 25 0 0.00 22 4 15.38 52 0 0.00 41 2 4.65 NFAT5 0 genome.wustl.edu 37 16 69729107 69729124 + In_Frame_Del DEL GGCCAACCACAAAACGAG GGCCAACCACAAAACGAG - TCGA-WK-A8XX-01A-11D-A37C-09 TCGA-WK-A8XX-10A-01D-A37F-09 GGCCAACCACAAAACGAG GGCCAACCACAAAACGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fde6b1fa-e014-4a04-ab32-1f035cc3ad88 385b779c-11ea-4519-a025-a0fb7f0f2fb6 16 69729107 69729124 GGCCAACCACAAAACGAG - DEL NFAT5 ENST00000432919 human ensembl 74_37 +1 known in_frame_del c.4483_4500 p.QNEGQP1498in_frame_del 1.000:1.000:0.997:1.000:1.000:0.987:1.000:1.000:0.988:1.000:1.000:1.000:0.998:0.985:0.965:1.000:1.000:1.000 NULL pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 tier1 109 0 0.00 58 2 3.33 109 0 0.00 58 2 3.33