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 CSPG5 0 genome.wustl.edu 37 3 47618467 47618467 + Nonsense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 47618467 47618467 A T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known nonsense c.1049 p.L350* 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 50 0 0.00 31 14 31.11 35 0 0.00 27 13 32.50 NLRP5 0 genome.wustl.edu 37 19 56544095 56544095 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 56544095 56544095 A G SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.2395 p.K799E 0.610 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 41 0 0.00 42 12 22.22 38 0 0.00 46 10 17.86 CRNN 0 genome.wustl.edu 37 1 152382768 152382768 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 152382768 152382768 G C SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.790 p.Q264E 0.914 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 tier1 - - 77 0 0.00 64 40 38.46 93 0 0.00 70 53 43.09 IKZF3 0 genome.wustl.edu 37 17 37934017 37934017 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 37934017 37934017 C T SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.713 p.S238N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 tier1 - - 67 0 0.00 20 29 59.18 117 0 0.00 46 76 62.30 CHR3 0 genome.wustl.edu 37 15 78893698 78893698 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 15 78893698 78893698 T C SNP CHR3 ENST00000326828 human ensembl 74_37 -1 known missense c.1286 p.D429G 0.096 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR3 HGNC ENSG00000080644 tier1 - - 67 0 0.00 34 15 30.61 99 0 0.00 81 22 21.36 CHMP4B 0 genome.wustl.edu 37 20 32399398 32399398 + Missense_Mutation SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 20 32399398 32399398 T A SNP CHMP4B ENST00000217402 human ensembl 74_37 +1 known missense c.124 p.F42I 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP4B HGNC ENSG00000101421 tier1 - - 109 0 0.00 69 25 26.60 45 0 0.00 28 10 26.32 TMPRSS15 0 genome.wustl.edu 37 21 19726140 19726140 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 21 19726140 19726140 A T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.921 p.F307L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 78 0 0.00 37 26 41.27 137 0 0.00 91 75 45.18 SEC24D 0 genome.wustl.edu 37 4 119666191 119666191 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 4 119666191 119666191 A G SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.1735 p.F579L 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 tier1 - - 33 0 0.00 28 8 22.22 24 0 0.00 27 4 12.50 ZNF573 0 genome.wustl.edu 37 19 38283217 38283217 + R SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 38283217 38283217 T A SNP ZNF573 ENST00000480587 human ensembl 74_37 -1 known rna NULL NULL 0.535 - - - no_errors ZNF573 HGNC ENSG00000189144 tier1 - - 93 0 0.00 81 13 13.83 115 0 0.00 108 33 23.40 HECTD2 0 genome.wustl.edu 37 10 93220291 93220291 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 93220291 93220291 C A SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.376 p.P126T 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 tier1 - - 52 0 0.00 22 6 21.43 142 0 0.00 104 51 32.90 RLIM 0 genome.wustl.edu 37 X 73812194 73812194 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 73812194 73812194 A T SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.956 p.I319K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 tier1 - - 18 0 0.00 7 8 53.33 75 0 0.00 21 19 47.50 CDKL5 0 genome.wustl.edu 37 X 18627005 18627005 + Silent SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 18627005 18627005 T G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.2019 p.S673 0.993 NULL pfam_Prot_kinase_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_dom - no_errors CDKL5 HGNC ENSG00000008086 tier1 - - 83 0 0.00 50 16 24.24 125 0 0.00 97 34 25.95 ELFN2 0 genome.wustl.edu 37 22 37769292 37769292 + Nonsense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 22 37769292 37769292 G T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known nonsense c.2283 p.Y761* 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 - - 57 0 0.00 36 23 38.98 57 0 0.00 52 19 26.76 THRB 0 genome.wustl.edu 37 3 24164567 24164567 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 24164567 24164567 A G SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.1194 p.S398 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 tier1 - - 79 0 0.00 85 9 9.57 129 0 0.00 191 40 17.24 TRIO 0 genome.wustl.edu 37 5 14481717 14481717 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 14481717 14481717 A T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.6455 p.Q2152L 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssD_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 74 0 0.00 62 20 24.39 125 0 0.00 105 33 23.91 CRISPLD1 0 genome.wustl.edu 37 8 75928820 75928820 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 75928820 75928820 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.748 p.P250S 0.019 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 24 0 0.00 30 6 16.67 183 0 0.00 201 35 14.77 FAM131B 0 genome.wustl.edu 37 7 143055944 143055944 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 143055944 143055944 C T SNP FAM131B ENST00000443739 human ensembl 74_37 -1 known missense c.442 p.E148K 1.000 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 tier1 - - 73 0 0.00 14 14 50.00 67 0 0.00 28 25 46.30 KIF13A 0 genome.wustl.edu 37 6 17804729 17804729 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 17804729 17804729 A T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.2317 p.Y773N 0.022 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 63 0 0.00 13 33 71.74 143 0 0.00 58 84 58.74 KIAA1217 0 genome.wustl.edu 37 10 24833379 24833379 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 24833379 24833379 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.5180 p.P1727L 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 27 0 0.00 15 6 28.57 139 0 0.00 99 38 27.54 ISPD 0 genome.wustl.edu 37 7 16317841 16317841 + Silent SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 16317841 16317841 G C SNP ISPD ENST00000407010 human ensembl 74_37 -1 known silent c.846 p.S282 0.998 NULL pfam_IspD - no_errors ISPD HGNC ENSG00000214960 tier1 - - 79 0 0.00 63 20 24.10 63 0 0.00 53 7 11.67 OR4A5 0 genome.wustl.edu 37 11 51412103 51412103 + Missense_Mutation SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 51412103 51412103 T G SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.293 p.Q98P 0.985 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 tier1 - - 61 0 0.00 32 17 34.69 103 1 0.96 52 23 30.26 CCDC79 0 genome.wustl.edu 37 16 66811166 66811166 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 66811166 66811166 G C SNP CCDC79 ENST00000433154 human ensembl 74_37 -1 known missense c.925 p.L309V 1.000 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 tier1 - - 41 0 0.00 15 12 44.44 149 0 0.00 56 52 48.15 FZD3 0 genome.wustl.edu 37 8 28385628 28385628 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 28385628 28385628 A G SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known missense c.1351 p.T451A 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 tier1 - - 30 0 0.00 14 6 30.00 122 0 0.00 112 38 25.33 VIL1 0 genome.wustl.edu 37 2 219296835 219296835 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 219296835 219296835 G A SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known missense c.1270 p.G424S 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 tier1 - - 25 0 0.00 10 8 44.44 74 0 0.00 32 34 51.52 TEX2 0 genome.wustl.edu 37 17 62291465 62291465 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 62291465 62291465 A G SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.113 p.F38S 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 tier1 - - 41 0 0.00 29 8 21.62 85 0 0.00 140 23 14.02 ENSG00000257042 0 genome.wustl.edu 37 12 28122519 28122519 + R SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 28122519 28122519 C A SNP ENSG00000257042 ENST00000538113 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-993B23.3 Clone_based_vega_gene ENSG00000257042 tier1 - - 85 0 0.00 44 22 33.33 114 0 0.00 63 33 34.38 TMBIM6 0 genome.wustl.edu 37 12 50156676 50156676 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 50156676 50156676 A G SNP TMBIM6 ENST00000423828 human ensembl 74_37 +1 known silent c.885 p.K295 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors TMBIM6 HGNC ENSG00000139644 tier1 - - 73 0 0.00 32 19 37.25 181 1 0.55 109 66 37.71 IL26 0 genome.wustl.edu 37 12 68618939 68618939 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 68618939 68618939 A C SNP IL26 ENST00000229134 human ensembl 74_37 -1 known missense c.353 p.L118W 0.056 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC ENSG00000111536 tier1 - - 42 0 0.00 24 6 20.00 138 1 0.72 65 30 31.58 URGCP 0 genome.wustl.edu 37 7 43918207 43918207 + Silent SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 43918207 43918207 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.855 p.P285 0.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 tier1 - - 36 0 0.00 32 11 25.58 98 0 0.00 77 26 25.24 PORCN 0 genome.wustl.edu 37 X 48370298 48370298 + Silent SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 48370298 48370298 C T SNP PORCN ENST00000326194 human ensembl 74_37 +1 known silent c.348 p.D116 0.988 NULL pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 tier1 - - 22 0 0.00 7 4 36.36 94 0 0.00 95 41 30.15 OR2M3 0 genome.wustl.edu 37 1 248366777 248366777 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 248366777 248366777 G C SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.408 p.M136I 0.977 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 tier1 - - 132 0 0.00 72 28 28.00 33 0 0.00 57 12 17.39 ABCA13 0 genome.wustl.edu 37 7 48427476 48427476 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 48427476 48427476 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11393 p.S3798I 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 26 0 0.00 50 9 15.25 101 0 0.00 91 33 26.61 WDR36 0 genome.wustl.edu 37 5 110439580 110439580 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 110439580 110439580 A T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.861 p.Q287H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 55 0 0.00 15 12 44.44 157 0 0.00 77 35 31.25 CHRD 0 genome.wustl.edu 37 3 184101126 184101126 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 184101126 184101126 G C SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1240 p.D414H 0.998 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 85 0 0.00 47 10 17.54 106 0 0.00 90 37 29.13 EFCC1 0 genome.wustl.edu 37 3 128753020 128753020 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 128753020 128753020 A G SNP EFCC1 ENST00000480450 human ensembl 74_37 +1 novel missense c.1297 p.T433A 0.945 NULL pfscan_EF_hand_dom - no_errors EFCC1 HGNC ENSG00000114654 tier1 - - 43 0 0.00 28 12 30.00 104 0 0.00 69 31 31.00 MYOM2 0 genome.wustl.edu 37 8 2033509 2033509 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 2033509 2033509 A T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.1631 p.Y544F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 tier1 - - 56 0 0.00 23 8 25.81 81 0 0.00 47 28 37.33 GREB1 0 genome.wustl.edu 37 2 11765428 11765428 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 11765428 11765428 A G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4296 p.I1432M 0.002 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 50 0 0.00 22 6 21.43 131 0 0.00 79 30 27.52 GADL1 0 genome.wustl.edu 37 3 30842399 30842399 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 30842399 30842399 C G SNP GADL1 ENST00000282538 human ensembl 74_37 -1 known missense c.1232 p.R411P 0.970 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GADL1 HGNC ENSG00000144644 tier1 - - 45 0 0.00 34 9 20.93 53 0 0.00 91 18 16.36 BAIAP2L1 0 genome.wustl.edu 37 7 97984424 97984424 + Silent SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 97984424 97984424 T A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known silent c.144 p.G48 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 tier1 - - 37 0 0.00 15 13 46.43 123 0 0.00 105 40 27.59 NPR2 0 genome.wustl.edu 37 9 35799691 35799691 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 9 35799691 35799691 C A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.950 p.A317D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 tier1 - - 62 0 0.00 63 12 16.00 144 0 0.00 150 32 17.58 ZNF77 0 genome.wustl.edu 37 19 2944942 2944942 + R SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 2944942 2944942 G A SNP ZNF77 ENST00000588050 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors ZNF77 HGNC ENSG00000175691 tier1 - - 10 0 0.00 5 7 58.33 45 0 0.00 30 28 48.28 GPBP1L1 0 genome.wustl.edu 37 1 46106026 46106026 + Silent SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 46106026 46106026 T C SNP GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known silent c.600 p.K200 1.000 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 tier1 - - 104 0 0.00 19 46 70.77 86 0 0.00 50 59 54.13 GPR158 0 genome.wustl.edu 37 10 25464562 25464562 + Silent SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 25464562 25464562 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.213 p.A71 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 25 0 0.00 15 12 44.44 33 0 0.00 12 2 14.29 TENM2 0 genome.wustl.edu 37 5 167630814 167630814 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 167630814 167630814 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.3551 p.H1184R 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 58 0 0.00 39 8 17.02 119 0 0.00 73 41 35.65 PARP14 0 genome.wustl.edu 37 3 122422740 122422740 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 122422740 122422740 A C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.3233 p.K1078T 0.007 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 - - 68 0 0.00 35 11 23.91 126 0 0.00 55 33 37.50 CTBP1 0 genome.wustl.edu 37 4 1209885 1209885 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 4 1209885 1209885 C T SNP CTBP1 ENST00000290921 human ensembl 74_37 -1 known missense c.656 p.R219H 1.000 pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_DP-bd pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_DP-bd - no_errors CTBP1 HGNC ENSG00000159692 tier1 - - 37 0 0.00 18 16 47.06 25 0 0.00 26 17 39.53 CCT8L2 0 genome.wustl.edu 37 22 17073326 17073326 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 22 17073326 17073326 C A SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.115 p.A39S 0.018 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 104 0 0.00 57 17 22.67 13 0 0.00 18 4 18.18 NXPE4 0 genome.wustl.edu 37 11 114452463 114452463 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 114452463 114452463 A G SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.876 p.S292 0.007 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 tier1 - - 33 0 0.00 21 7 25.00 145 0 0.00 36 48 57.14 STAG3L4 0 genome.wustl.edu 37 7 66767698 66767698 + R SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 66767698 66767698 G C SNP STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 - - 81 0 0.00 10 35 77.78 23 0 0.00 12 14 53.85 FCRL5 0 genome.wustl.edu 37 1 157512513 157512513 + R SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 157512513 157512513 G A SNP FCRL5 ENST00000481082 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 15 0 0.00 26 5 16.13 115 0 0.00 101 29 22.31 CST2 0 genome.wustl.edu 37 20 23807102 23807102 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 20 23807102 23807102 G A SNP CST2 ENST00000304725 human ensembl 74_37 -1 known missense c.196 p.R66C 0.008 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 tier1 rs112783512 - 53 0 0.00 23 8 25.81 33 0 0.00 17 15 46.88 MTUS2 0 genome.wustl.edu 37 13 29933578 29933578 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 13 29933578 29933578 C A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3115 p.L1039I 0.001 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 70 0 0.00 49 23 31.94 73 0 0.00 46 22 32.35 ENSG00000242539 0 genome.wustl.edu 37 3 179115513 179115513 + R SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 179115513 179115513 T C SNP ENSG00000242539 ENST00000495081 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC007620.3 Clone_based_vega_gene ENSG00000242539 tier1 - - 52 0 0.00 27 11 28.95 121 0 0.00 64 34 34.69 LRRC42 0 genome.wustl.edu 37 1 54423865 54423865 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 54423865 54423865 C T SNP LRRC42 ENST00000319223 human ensembl 74_37 +1 known missense c.517 p.R173W 1.000 NULL NULL - no_errors LRRC42 HGNC ENSG00000116212 tier1 - - 55 0 0.00 37 11 22.92 168 0 0.00 122 38 23.75 DUSP27 0 genome.wustl.edu 37 1 167082993 167082993 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 167082993 167082993 C A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.157 p.P53T 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 tier1 - - 49 0 0.00 45 8 15.09 140 0 0.00 107 38 26.21 MAGEC3 0 genome.wustl.edu 37 X 140985392 140985392 + Nonsense_Mutation SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 140985392 140985392 T A SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known nonsense c.954 p.Y318* 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 76 0 0.00 19 11 36.67 82 0 0.00 30 28 48.28 RPAP3 0 genome.wustl.edu 37 12 48063978 48063978 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 48063978 48063978 A C SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known missense c.1438 p.S480A 0.055 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 tier1 - - 50 0 0.00 26 9 25.71 101 0 0.00 60 31 33.33 TNRC6C 0 genome.wustl.edu 37 17 76045614 76045614 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 76045614 76045614 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.471 p.Q157 0.777 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 tier1 - - 46 0 0.00 32 9 21.95 159 0 0.00 113 31 21.53 PSD4 0 genome.wustl.edu 37 2 113940242 113940242 + Missense_Mutation SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 113940242 113940242 T A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.209 p.V70E 0.002 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 49 0 0.00 12 11 47.83 99 0 0.00 27 43 61.43 PRKD3 0 genome.wustl.edu 37 2 37505106 37505106 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 37505106 37505106 A T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.1199 p.L400Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 53 0 0.00 8 13 61.90 140 0 0.00 67 57 45.97 CRISPLD1 0 genome.wustl.edu 37 8 75928821 75928821 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 75928821 75928821 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.749 p.P250L 0.166 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 24 0 0.00 31 6 16.22 184 0 0.00 203 33 13.98 PHLDB2 0 genome.wustl.edu 37 3 111638036 111638036 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 111638036 111638036 G T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1837 p.D613Y 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 29 0 0.00 18 15 45.45 175 1 0.57 124 39 23.64 DLC1 0 genome.wustl.edu 37 8 12990494 12990494 + R SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 12990494 12990494 C T SNP DLC1 ENST00000515225 human ensembl 74_37 -1 known rna NULL NULL 0.305 - - - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 150 0 0.00 75 32 29.91 28 0 0.00 15 9 37.50 CASP8AP2 0 genome.wustl.edu 37 6 90576105 90576105 + R SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 90576105 90576105 C G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.716 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 28 0 0.00 10 4 28.57 117 0 0.00 147 33 18.33 CLTCL1 0 genome.wustl.edu 37 22 19187282 19187282 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 22 19187282 19187282 T C SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.3836 p.H1279R 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 50 0 0.00 28 7 20.00 54 0 0.00 41 18 30.51 CYP2A13 0 genome.wustl.edu 37 19 41599673 41599673 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 41599673 41599673 G A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.970 p.E324K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 62 0 0.00 29 34 53.97 108 0 0.00 53 72 57.60 RTL1 0 genome.wustl.edu 37 14 101349306 101349306 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 101349306 101349306 A G SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.1820 p.F607S 0.011 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 46 0 0.00 15 13 46.43 91 0 0.00 24 19 44.19 DH17 0 genome.wustl.edu 37 17 76424543 76424543 + Splice_Site SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 76424543 76424543 C T SNP DH17 ENST00000389840 human ensembl 74_37 -1 known splice_site c.12632+1 e76+1 0.000 - - - no_errors DH17 HGNC ENSG00000187775 tier1 - - 39 0 0.00 8 21 72.41 126 0 0.00 43 89 67.42 SEC14L1 0 genome.wustl.edu 37 17 75208137 75208137 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 75208137 75208137 C G SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1717 p.P573A 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 25 0 0.00 14 10 41.67 9 0 0.00 28 5 15.15 KDR 0 genome.wustl.edu 37 4 55991451 55991451 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 4 55991451 55991451 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.10 p.K4E 0.948 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 95 0 0.00 57 13 18.31 18 0 0.00 14 3 17.65 LOC100128079 0 genome.wustl.edu 37 16 27692640 27692640 + R SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 27692640 27692640 G A SNP LOC100128079 ENST00000564893 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2049O4.1 Clone_based_vega_gene ENSG00000261329 tier1 - - 48 0 0.00 14 32 69.57 132 0 0.00 77 102 56.98 STOX1 0 genome.wustl.edu 37 10 70641836 70641836 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 70641836 70641836 C A SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known missense c.433 p.L145I 0.705 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 tier1 - - 74 0 0.00 27 20 42.55 148 0 0.00 66 34 34.00 DBH 0 genome.wustl.edu 37 9 136521767 136521767 + Silent SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 9 136521767 136521767 C A SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.1557 p.I519 0.121 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 tier1 - - 32 0 0.00 6 7 53.85 36 0 0.00 17 14 45.16 CFH 0 genome.wustl.edu 37 1 196694299 196694299 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 196694299 196694299 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1745 p.R582L 0.005 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 20 0 0.00 14 13 48.15 143 0 0.00 77 73 48.34 PLX1 0 genome.wustl.edu 37 3 126708266 126708266 + Missense_Mutation SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 126708266 126708266 T A SNP PLX1 ENST00000393409 human ensembl 74_37 +1 known missense c.830 p.F277Y 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX1 HGNC ENSG00000114554 tier1 - - 29 0 0.00 18 9 33.33 32 0 0.00 36 20 35.71 ZNF469 0 genome.wustl.edu 37 16 88500498 88500498 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 88500498 88500498 A G SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.6536 p.K2179R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 125 0 0.00 19 33 63.46 65 0 0.00 30 23 43.40 FTCD 0 genome.wustl.edu 37 21 47570376 47570376 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 21 47570376 47570376 C T SNP FTCD ENST00000359679 human ensembl 74_37 -1 known missense c.700 p.V234M 1.000 pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC ENSG00000160282 tier1 - - 74 0 0.00 22 39 63.93 86 0 0.00 24 78 76.47 NBEAL2 0 genome.wustl.edu 37 3 47045620 47045620 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 47045620 47045620 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5935 p.R1979W 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 41 0 0.00 19 8 29.63 41 0 0.00 34 12 26.09 CSMD2 0 genome.wustl.edu 37 1 34174865 34174865 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 34174865 34174865 A G SNP CSMD2 ENST00000373380 human ensembl 74_37 -1 known missense c.19 p.F7L 0.996 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 35 0 0.00 16 7 30.43 120 0 0.00 69 35 33.65 LRRIQ3 0 genome.wustl.edu 37 1 74540395 74540395 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 74540395 74540395 G A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.947 p.P316L 0.960 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 55 0 0.00 18 38 67.86 145 0 0.00 29 46 60.53 POLR1E 0 genome.wustl.edu 37 9 37486117 37486117 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 9 37486117 37486117 C G SNP POLR1E ENST00000377798 human ensembl 74_37 +1 known missense c.73 p.L25V 0.997 NULL pfam_R_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 tier1 - - 153 0 0.00 155 30 16.22 52 0 0.00 71 24 25.26 KRT16P2 0 genome.wustl.edu 37 17 16735609 16735609 + R SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 16735609 16735609 A G SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P2 HGNC ENSG00000227300 tier1 - - 289 0 0.00 172 31 15.27 62 0 0.00 61 17 21.79 BAZ1A 0 genome.wustl.edu 37 14 35233923 35233923 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 35233923 35233923 C G SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.3766 p.E1256Q 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 tier1 - - 38 0 0.00 12 19 61.29 120 0 0.00 31 67 67.68 THRB 0 genome.wustl.edu 37 3 24164570 24164570 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 24164570 24164570 A G SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.1191 p.D397 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 tier1 - - 79 0 0.00 79 9 10.23 128 0 0.00 189 40 17.47 ZNF81 0 genome.wustl.edu 37 X 47774883 47774883 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 47774883 47774883 G C SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.838 p.G280R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 tier1 - - 102 0 0.00 70 23 24.21 206 0 0.00 153 52 25.37 SYCP3 0 genome.wustl.edu 37 12 102122971 102122971 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 102122971 102122971 C G SNP SYCP3 ENST00000266743 human ensembl 74_37 -1 known missense c.573 p.K191N 0.982 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 tier1 - - 32 0 0.00 22 10 31.25 118 0 0.00 72 38 34.55 PDE4C 0 genome.wustl.edu 37 19 18327583 18327583 + Nonsense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 18327583 18327583 G A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known nonsense c.1453 p.R485* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 44 0 0.00 25 24 48.98 32 0 0.00 20 20 50.00 FSCB 0 genome.wustl.edu 37 14 44974526 44974526 + Silent SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 44974526 44974526 A T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.1665 p.A555 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 53 0 0.00 12 20 62.50 49 0 0.00 19 10 34.48 WDR36 0 genome.wustl.edu 37 5 110439579 110439579 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 110439579 110439579 A C SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.860 p.Q287P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 58 0 0.00 15 12 44.44 159 0 0.00 77 35 31.25 CUBN 0 genome.wustl.edu 37 10 16979734 16979734 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 16979734 16979734 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5783 p.G1928D 0.999 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 63 0 0.00 14 24 63.16 90 0 0.00 43 58 57.43 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1953888 1953888 + R SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 1953888 1953888 G A SNP CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 tier1 - - 20 0 0.00 32 22 40.74 62 0 0.00 36 30 45.45 OR51J1 0 genome.wustl.edu 37 11 5424660 5424660 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 5424660 5424660 G A SNP OR51J1 ENST00000332043 human ensembl 74_37 +1 known missense c.834 p.M278I 0.994 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC ENSG00000184321 tier1 - - 64 0 0.00 10 18 62.07 113 0 0.00 37 37 50.00 RPL36 0 genome.wustl.edu 37 19 5691405 5691405 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 5691405 5691405 G C SNP RPL36 ENST00000347512 human ensembl 74_37 +1 known missense c.169 p.A57P 0.995 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 tier1 - - 99 0 0.00 55 14 20.29 16 0 0.00 21 10 32.26 ATR 0 genome.wustl.edu 37 3 142278275 142278275 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 142278275 142278275 A G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.1550 p.F517S 0.686 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 22 0 0.00 14 7 33.33 180 0 0.00 123 52 29.55 KDM5B 0 genome.wustl.edu 37 1 202702842 202702842 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 202702842 202702842 A T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3704 p.F1235Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 33 0 0.00 24 10 29.41 114 0 0.00 123 37 22.98 BRIP1 0 genome.wustl.edu 37 17 59761175 59761175 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 59761175 59761175 T C SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.3232 p.K1078E 0.031 NULL pfam_DEAD_2,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 tier1 - - 32 0 0.00 38 13 25.49 132 0 0.00 158 26 14.13 OTOP3 0 genome.wustl.edu 37 17 72939701 72939701 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 72939701 72939701 G T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.687 p.R229S 1.000 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 43 0 0.00 37 11 22.92 52 0 0.00 38 24 38.10 SYNE1 0 genome.wustl.edu 37 6 152652933 152652933 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 152652933 152652933 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12887 p.K4296R 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 46 0 0.00 34 17 33.33 76 0 0.00 83 39 31.97 LOC100129029 0 genome.wustl.edu 37 2 159517119 159517119 + R SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 159517119 159517119 A G SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 tier1 - - 32 0 0.00 12 9 42.86 96 1 1.03 34 28 45.16 ACAT1 0 genome.wustl.edu 37 11 108010820 108010820 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 108010820 108010820 A G SNP ACAT1 ENST00000265838 human ensembl 74_37 +1 known missense c.608 p.K203R 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ENSG00000075239 tier1 - - 42 0 0.00 11 8 42.11 92 0 0.00 29 19 39.58 SMG1 0 genome.wustl.edu 37 16 18859200 18859200 + Missense_Mutation SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 18859200 18859200 G C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.5779 p.Q1927E 1.000 superfamily_ARM-type_fold 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 SMG1 HGNC ENSG00000157106 tier1 - - 65 0 0.00 54 13 19.40 137 0 0.00 154 64 29.36 HDAC3 0 genome.wustl.edu 37 5 141016128 141016128 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 141016128 141016128 T C SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.125 p.Y42C 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 tier1 - - 184 0 0.00 100 71 41.52 45 0 0.00 25 35 58.33 WDR87 0 genome.wustl.edu 37 19 38378202 38378202 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 38378202 38378202 T C SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.6109 p.M2037V 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 51 0 0.00 41 15 26.79 142 0 0.00 191 51 20.99 DTD2 0 genome.wustl.edu 37 14 31917348 31917348 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 31917348 31917348 A G SNP DTD2 ENST00000310850 human ensembl 74_37 -1 known missense c.494 p.L165S 0.923 pfam_DTyrtR_deacyls,superfamily_DTD-like_dom pfam_DTyrtR_deacyls,superfamily_DTD-like_dom - no_errors DTD2 HGNC ENSG00000129480 tier1 - - 64 0 0.00 37 9 19.57 159 0 0.00 117 49 29.52 DTX4 0 genome.wustl.edu 37 11 58956718 58956718 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 58956718 58956718 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.1081 p.V361I 0.999 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 tier1 - - 55 0 0.00 29 17 36.96 93 1 1.06 50 30 37.50 NR2E1 0 genome.wustl.edu 37 6 108489261 108489261 + Nonsense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 108489261 108489261 A T SNP NR2E1 ENST00000368983 human ensembl 74_37 +1 novel nonsense c.31 p.K11* 0.689 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 tier1 - - 87 0 0.00 77 20 20.41 113 0 0.00 78 34 30.36 LONP1 0 genome.wustl.edu 37 19 5707147 5707147 + Missense_Mutation SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 5707147 5707147 T G SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.1070 p.K357T 1.000 pfam_Pept_S16_N,smart_Pept_S16_N,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_D_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 tier1 - - 131 0 0.00 83 33 28.45 62 0 0.00 74 26 26.00 BAI1 0 genome.wustl.edu 37 8 143558855 143558855 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 143558855 143558855 C A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1332 p.N444K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 73 0 0.00 22 31 58.49 26 0 0.00 14 29 67.44 MXRA5 0 genome.wustl.edu 37 X 3238224 3238224 + Silent SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 3238224 3238224 T A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.5502 p.S1834 0.000 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_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 61 0 0.00 49 32 39.51 35 0 0.00 25 17 40.48 PTPRF 0 genome.wustl.edu 37 1 44035396 44035396 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 44035396 44035396 T C SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.515 p.F172S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 34 0 0.00 16 11 40.74 86 1 1.15 51 27 34.62 PDZK1 0 genome.wustl.edu 37 1 145761266 145761266 + Missense_Mutation SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 145761266 145761266 T C SNP PDZK1 ENST00000344770 human ensembl 74_37 +1 known missense c.1079 p.L360P 0.001 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZK1 HGNC ENSG00000174827 tier1 - - 214 0 0.00 155 31 16.67 84 0 0.00 101 19 15.83 EFCAB13 0 genome.wustl.edu 37 17 45518000 45518000 + Nonsense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 45518000 45518000 C T SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known nonsense c.2842 p.Q948* 0.062 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 - - 59 0 0.00 33 33 50.00 197 0 0.00 127 122 49.00 MDN1 0 genome.wustl.edu 37 6 90448117 90448117 + Missense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 90448117 90448117 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.4651 p.R1551C 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 80 0 0.00 30 28 48.28 82 0 0.00 68 43 38.74 UMPS 0 genome.wustl.edu 37 3 124457073 124457073 + Silent SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 124457073 124457073 A G SNP UMPS ENST00000232607 human ensembl 74_37 +1 known silent c.969 p.K323 1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 tier1 - - 12 0 0.00 8 6 42.86 166 0 0.00 91 35 27.78 SYT16 0 genome.wustl.edu 37 14 62567381 62567381 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 62567381 62567381 A G SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1894 p.K632E 0.974 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 61 0 0.00 18 9 33.33 153 0 0.00 67 33 33.00 AHK 0 genome.wustl.edu 37 11 62297347 62297347 + Missense_Mutation SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 62297347 62297347 T A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.4542 p.K1514N 0.993 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 134 0 0.00 69 21 23.33 42 0 0.00 33 21 38.89 ZNF560 0 genome.wustl.edu 37 19 9578410 9578410 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 9578410 9578410 C G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.1213 p.G405R 0.001 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 ZNF560 HGNC ENSG00000198028 tier1 - - 29 0 0.00 19 7 26.92 70 0 0.00 83 16 16.16 HIVEP3 0 genome.wustl.edu 37 1 42046979 42046979 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 42046979 42046979 A G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.3490 p.S1164P 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 rs187400091 GMAF=0.0005 91 0 0.00 45 14 23.73 67 0 0.00 65 17 20.73 CYP27A1 0 genome.wustl.edu 37 2 219647127 219647127 + Silent SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 219647127 219647127 T G SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known silent c.222 p.V74 0.091 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 tier1 - - 47 0 0.00 15 9 36.00 83 0 0.00 29 37 56.06 OR5AK2 0 genome.wustl.edu 37 11 56757027 56757027 + Silent SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 56757027 56757027 C T SNP OR5AK2 ENST00000326855 human ensembl 74_37 +1 known silent c.639 p.V213 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AK2 HGNC ENSG00000181273 tier1 - - 95 0 0.00 40 29 42.03 60 0 0.00 33 20 37.74 CLTC 0 genome.wustl.edu 37 17 57743601 57743601 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 57743601 57743601 A C SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.1782 p.Q594H 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 tier1 - - 60 0 0.00 41 29 41.43 122 1 0.81 102 74 42.05 CRISPLD1 0 genome.wustl.edu 37 8 75928896 75928896 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 75928896 75928896 C T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.824 p.S275L 0.998 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 35 0 0.00 43 6 12.24 164 0 0.00 206 27 11.59 MACF1 0 genome.wustl.edu 37 1 39800543 39800544 + Frame_Shift_Del DEL AG AG - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 39800543 39800544 AG - DEL MACF1 ENST00000567887 human ensembl 74_37 +1 putative frame_shift_del c.8394_8395 p.D2799fs 0.714:0.727 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 22 0 0.00 24 11 31.43 124 0 0.00 73 31 29.81 LOC100507557 0 genome.wustl.edu 37 6 146206407 146206408 + R DEL AC AC - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 AC AC AC - AC AC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 6 146206407 146206408 AC - DEL LOC100507557 ENST00000606388 human ensembl 74_37 +1 known rna NULL NULL 0.999:0.991 - - - no_errors RP11-545I5.3 Clone_based_vega_gene ENSG00000235652 tier1 9 0 0.00 5 7 58.33 100 0 0.00 56 42 42.86 CARF 0 genome.wustl.edu 37 2 203848307 203848308 + Frame_Shift_Ins INS - - A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 203848307 203848308 - A INS CARF ENST00000320443 human ensembl 74_37 +1 known frame_shift_ins c.2138_2139 p.T716fs 0.949:0.979 NULL NULL - no_errors CARF HGNC ENSG00000138380 tier1 65 0 0.00 19 16 45.71 203 0 0.00 61 50 45.05 DALRD3 0 genome.wustl.edu 37 3 49055208 49055209 + Frame_Shift_Del DEL CT CT - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 49055208 49055209 CT - DEL DALRD3 ENST00000341949 human ensembl 74_37 -1 known frame_shift_del c.556_555 p.R185fs 0.000:0.000 NULL pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 tier1 87 0 0.00 47 14 22.95 72 0 0.00 51 18 26.09 ASH1L 0 genome.wustl.edu 37 1 155447818 155447818 + Frame_Shift_Del DEL T T - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 155447818 155447818 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.4843 p.R1615fs 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_D-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 51 0 0.00 57 12 17.39 121 0 0.00 152 52 25.49 MYOM2 0 genome.wustl.edu 37 8 2092920 2092920 + R DEL C C - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 2092920 2092920 C - DEL MYOM2 ENST00000520298 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MYOM2 HGNC ENSG00000036448 tier1 49 0 0.00 14 9 39.13 74 0 0.00 30 12 28.57 DBF4 0 genome.wustl.edu 37 7 87536511 87536512 + Frame_Shift_Del DEL AC AC - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 AC AC AC - AC AC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 87536511 87536512 AC - DEL DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_del c.1058_1059 p.Y353fs 1.000:0.998 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 62 0 0.00 24 30 55.56 98 0 0.00 31 57 64.77 CALML5 0 genome.wustl.edu 37 10 5541395 5541395 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 5541395 5541395 C T SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known missense c.7 p.G3S 0.001 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 tier1 - - 27 0 0.00 0 26 100.00 60 0 0.00 1 36 97.30 ENSG00000204038 0 genome.wustl.edu 37 10 82012576 82012576 + Missense_Mutation SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 82012576 82012576 T G SNP ENSG00000204038 ENST00000356374 human ensembl 74_37 +1 known missense c.94 p.S32A 0.001 NULL NULL - no_errors AL359195.1 Clone_based_ensembl_gene ENSG00000204038 tier1 - - 35 0 0.00 21 10 32.26 18 0 0.00 6 3 33.33 ENSG00000244306 0 genome.wustl.edu 37 14 19891350 19891350 + R SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 19891350 19891350 G T SNP ENSG00000244306 ENST00000547285 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 15 0 0.00 18 9 33.33 11 0 0.00 7 4 36.36 ENSG00000273433 0 genome.wustl.edu 37 7 27192088 27192089 + R INS - - GGCCT TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 - - - GGCCT - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 27192088 27192089 - GGCCT INS ENSG00000273433 ENST00000467897 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.074 - - - no_errors RP1-170O19.22 Clone_based_vega_gene ENSG00000273433 tier1 5 0 0.00 6 2 25.00 5 0 0.00 6 2 25.00 FAM19A5 0 genome.wustl.edu 37 22 49042466 49042466 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 22 49042466 49042466 C T SNP FAM19A5 ENST00000358295 human ensembl 74_37 +1 known missense c.149 p.P50L 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A5 HGNC ENSG00000219438 tier1 - - 170 0 0.00 96 35 26.72 16 0 0.00 6 6 50.00 HSD3B1 0 genome.wustl.edu 37 1 120057126 120057126 + Missense_Mutation SNP T T G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 120057126 120057126 T G SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known missense c.986 p.F329C 0.989 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 tier1 - - 50 0 0.00 1 19 95.00 31 0 0.00 2 26 92.86 HYDIN 0 genome.wustl.edu 37 16 71009037 71009037 + Splice_Site SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 71009037 71009037 A T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative splice_site c.4772+2 e30+2 0.995 - - - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 19 0 0.00 8 12 60.00 12 0 0.00 1 4 80.00 OR1N1 0 genome.wustl.edu 37 9 125289383 125289383 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 9 125289383 125289383 G T SNP OR1N1 ENST00000304880 human ensembl 74_37 -1 known missense c.190 p.L64M 0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC ENSG00000171505 tier1 - - 67 0 0.00 0 32 100.00 120 0 0.00 0 59 100.00 OR8D1 0 genome.wustl.edu 37 11 124180308 124180308 + Missense_Mutation SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 124180308 124180308 C A SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.355 p.A119S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 61 0 0.00 0 14 100.00 127 0 0.00 0 35 100.00 P2RY6 0 genome.wustl.edu 37 11 73008055 73008055 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 11 73008055 73008055 C G SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.492 p.I164M 0.220 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 tier1 - - 48 0 0.00 15 6 28.57 10 0 0.00 4 5 55.56 TET3 0 genome.wustl.edu 37 2 74320711 74320711 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 74320711 74320711 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.2780 p.P927L 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 48 0 0.00 1 22 95.65 30 0 0.00 0 30 100.00 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor 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 rs11540652 - 71 0 0.00 0 71 100.00 105 0 0.00 0 114 100.00 TSPEAR 0 genome.wustl.edu 37 21 45953680 45953680 + Nonsense_Mutation SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 21 45953680 45953680 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known nonsense c.430 p.R144* 0.101 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 67 0 0.00 16 57 77.03 6 0 0.00 2 11 84.62 ENSG00000244306 0 genome.wustl.edu 37 14 19856755 19856755 + R SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 14 19856755 19856755 C T SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 96 0 0.00 81 9 10.00 249 0 0.00 194 4 2.02 RNF139 0 genome.wustl.edu 37 8 125498135 125498144 + Frame_Shift_Del DEL ACAGCTCAGC ACAGCTCAGC - TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 ACAGCTCAGC ACAGCTCAGC ACAGCTCAGC - ACAGCTCAGC ACAGCTCAGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 8 125498135 125498144 ACAGCTCAGC - DEL RNF139 ENST00000303545 human ensembl 74_37 +1 known frame_shift_del c.245_254 p.Y82fs 1.000:1.000:1.000:1.000:0.999:0.974:0.827:0.753:1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 tier1 126 0 0.00 111 8 6.72 126 0 0.00 111 8 6.72 ENSG00000233145 0 genome.wustl.edu 37 X 139099820 139099820 + R SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 139099820 139099820 A T SNP ENSG00000233145 ENST00000417426 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000233145 tier1 - - 47 0 0.00 12 9 42.86 121 2 1.63 35 37 51.39 DGKK 0 genome.wustl.edu 37 X 50213247 50213247 + R SNP T T A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 X 50213247 50213247 T A SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.123 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 62 0 0.00 28 36 56.25 32 1 3.03 17 22 56.41 FBXL2 0 genome.wustl.edu 37 3 33318974 33318974 + R SNP G G C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 33318974 33318974 G C SNP FBXL2 ENST00000283627 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors FBXL2 HGNC ENSG00000153558 tier1 - - 24 0 0.00 32 7 17.95 7 0 0.00 2 1 33.33 ZNF324B 0 genome.wustl.edu 37 19 58967494 58967494 + Nonsense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 58967494 58967494 A T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known nonsense c.1183 p.K395* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 tier1 - - 90 0 0.00 64 21 24.71 9 0 0.00 6 1 14.29 ZNF324B 0 genome.wustl.edu 37 19 58967495 58967495 + Missense_Mutation SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 19 58967495 58967495 A G SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1184 p.K395R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 tier1 - - 90 0 0.00 65 20 23.53 9 0 0.00 6 1 14.29 ENSG00000232274 0 genome.wustl.edu 37 1 143210195 143210195 + R SNP T T C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 1 143210195 143210195 T C SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 215 0 0.00 180 38 17.43 2 0 0.00 3 0 0.00 LOC100996643 0 genome.wustl.edu 37 9 67291163 67291163 + R SNP A A G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 9 67291163 67291163 A G SNP LOC100996643 ENST00000432011 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-236F9.2 Clone_based_vega_gene ENSG00000228522 tier1 rs200595877 - 54 0 0.00 36 5 12.20 4 0 0.00 4 0 0.00 LOC441666 0 genome.wustl.edu 37 10 42832502 42832503 + R INS - - TATCA TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 10 42832502 42832503 - TATCA INS LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.996 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 2 0 0.00 1 0 0.00 2 0 0.00 1 0 0.00 PCOLCE2 0 genome.wustl.edu 37 3 142607822 142607823 + R INS - - GCTCACACTGGCAGCAGCGCTG TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 3 142607822 142607823 - GCTCACACTGGCAGCAGCGCTG INS PCOLCE2 ENST00000461818 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCOLCE2 HGNC ENSG00000163710 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TELO2 0 genome.wustl.edu 37 16 1545430 1545430 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 16 1545430 1545430 A T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.419 p.Q140L 0.766 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 39 0 0.00 26 7 21.21 1 0 0.00 2 1 33.33 WNT6 0 genome.wustl.edu 37 2 219724739 219724739 + R SNP G G A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 2 219724739 219724739 G A SNP WNT6 ENST00000486233 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors WNT6 HGNC ENSG00000115596 tier1 - - 9 0 0.00 4 6 60.00 1 0 0.00 0 0 0.00 PCDHB14 0 genome.wustl.edu 37 5 140604757 140604757 + Silent SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 5 140604757 140604757 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.1680 p.F560 0.766 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 150 0 0.00 139 50 26.46 1 0 0.00 0 2 100.00 TNRC18 0 genome.wustl.edu 37 7 5347940 5347940 + Missense_Mutation SNP C C T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 5347940 5347940 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8704 p.A2902T 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 59 0 0.00 40 14 25.93 0 0 0.00 1 2 66.67 BCL2L14 0 genome.wustl.edu 37 12 12232253 12232253 + Missense_Mutation SNP G G T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 12 12232253 12232253 G T SNP BCL2L14 ENST00000308721 human ensembl 74_37 +1 known missense c.14 p.S5I 0.729 NULL pfscan_Bcl2-like - no_errors BCL2L14 HGNC ENSG00000121380 tier1 - - 50 0 0.00 27 4 12.90 161 0 0.00 170 2 1.16 TRIL 0 genome.wustl.edu 37 7 28996605 28996605 + R SNP C C A TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8abdeb14-fa39-4bbc-8181-7196573b2629 765fa923-05c1-4fbe-a8dc-ba3c987c84d5 7 28996605 28996605 C A SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 tier1 - - 25 0 0.00 19 11 36.67 19 0 0.00 22 2 8.33