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 PIP5K1A 0 genome.wustl.edu 37 1 151206962 151206962 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 151206962 151206962 G A SNP PIP5K1A ENST00000368888 human ensembl 74_37 +1 known missense c.929 p.R310H 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 tier1 - - 75 0 0.00 77 28 26.67 66 0 0.00 136 44 24.31 ECM1 0 genome.wustl.edu 37 1 150483831 150483831 + R SNP A A T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 150483831 150483831 A T SNP ECM1 ENST00000470432 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ECM1 HGNC ENSG00000143369 tier1 - - 31 0 0.00 26 11 29.73 46 0 0.00 89 35 28.23 CCT6P3 0 genome.wustl.edu 37 7 64531307 64531307 + R SNP G G C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 7 64531307 64531307 G C SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 tier1 - - 111 0 0.00 63 38 37.62 13 0 0.00 28 9 24.32 ENSG00000267749 0 genome.wustl.edu 37 19 2642868 2642868 + R SNP C C A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 19 2642868 2642868 C A SNP ENSG00000267749 ENST00000587894 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors CTC-265F19.1 Clone_based_vega_gene ENSG00000267749 tier1 - - 58 0 0.00 36 5 12.20 30 0 0.00 26 11 29.73 KIF20A 0 genome.wustl.edu 37 5 137520246 137520246 + Missense_Mutation SNP T T A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 137520246 137520246 T A SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.1564 p.S522T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 - - 54 0 0.00 30 17 36.17 50 0 0.00 65 35 35.00 SMARCAL1 0 genome.wustl.edu 37 2 217279860 217279860 + Nonsense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 217279860 217279860 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known nonsense c.433 p.Q145* 0.003 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 - - 61 0 0.00 13 25 65.79 58 0 0.00 31 42 56.76 CSN2 0 genome.wustl.edu 37 4 70823302 70823302 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 4 70823302 70823302 G A SNP CSN2 ENST00000353151 human ensembl 74_37 -1 known missense c.365 p.T122M 0.000 pirsf_Casein_beta pfam_Casein,pirsf_Casein_beta - no_errors CSN2 HGNC ENSG00000135222 tier1 rs140189537 - 57 0 0.00 18 18 50.00 86 0 0.00 36 42 53.85 GABRB3 0 genome.wustl.edu 37 15 26793096 26793096 + Silent SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 15 26793096 26793096 C T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.1266 p.P422 0.973 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 40 0 0.00 29 9 23.68 53 0 0.00 46 16 25.81 NUDT10 0 genome.wustl.edu 37 X 51076293 51076293 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 X 51076293 51076293 C T SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known missense c.476 p.S159L 0.001 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 tier1 rs140448074 - 51 0 0.00 22 23 51.11 10 0 0.00 22 13 37.14 ITGB4 0 genome.wustl.edu 37 17 73748323 73748323 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 17 73748323 73748323 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.3862 p.L1288F 1.000 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 23 0 0.00 12 6 33.33 54 1 1.82 59 23 28.05 CDK12 0 genome.wustl.edu 37 17 37627390 37627390 + Silent SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 17 37627390 37627390 A G SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known silent c.1305 p.V435 0.931 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 CDK12 HGNC ENSG00000167258 tier1 - - 32 0 0.00 28 6 17.65 111 0 0.00 133 38 22.22 LAMC1 0 genome.wustl.edu 37 1 183094669 183094669 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 183094669 183094669 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2785 p.G929R 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 106 0 0.00 172 20 10.42 74 1 1.33 191 22 10.33 C11orf44 0 genome.wustl.edu 37 11 130542983 130542983 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 11 130542983 130542983 C T SNP C11orf44 ENST00000317019 human ensembl 74_37 +1 putative missense c.110 p.S37F 0.001 NULL NULL - no_errors C11orf44 HGNC ENSG00000175728 tier1 - - 37 0 0.00 18 17 48.57 18 0 0.00 11 21 65.62 OR6K6 0 genome.wustl.edu 37 1 158725397 158725397 + Silent SNP C C A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 158725397 158725397 C A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.792 p.A264 0.308 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 OR6K6 HGNC ENSG00000180433 tier1 - - 113 0 0.00 119 44 26.99 49 0 0.00 105 50 32.26 NBPF22P 0 genome.wustl.edu 37 5 85592265 85592265 + R SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 85592265 85592265 G A SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF22P HGNC ENSG00000205449 tier1 - - 112 0 0.00 65 48 42.11 32 0 0.00 40 18 31.03 ZNF454 0 genome.wustl.edu 37 5 178373906 178373906 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 178373906 178373906 G A SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.169 p.G57R 1.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF454 HGNC ENSG00000178187 tier1 - - 50 0 0.00 34 22 39.29 71 0 0.00 92 50 34.72 MAMDC4 0 genome.wustl.edu 37 9 139750925 139750925 + Missense_Mutation SNP G G T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 9 139750925 139750925 G T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.1855 p.V619F 0.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 rs191106356 GMAF=0.0005 70 0 0.00 35 17 32.69 46 0 0.00 61 16 20.78 RAD18 0 genome.wustl.edu 37 3 8981242 8981242 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 3 8981242 8981242 T C SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.700 p.R234G 0.932 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 tier1 - - 88 0 0.00 63 29 31.52 63 0 0.00 85 46 34.85 PLCE1 0 genome.wustl.edu 37 10 96058263 96058263 + Silent SNP C C A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 10 96058263 96058263 C A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.5295 p.A1765 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 49 0 0.00 26 14 35.00 40 0 0.00 49 14 22.22 LRRC59 0 genome.wustl.edu 37 17 48460388 48460388 + Missense_Mutation SNP C C G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 17 48460388 48460388 C G SNP LRRC59 ENST00000225972 human ensembl 74_37 -1 known missense c.885 p.E295D 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC59 HGNC ENSG00000108829 tier1 - - 53 0 0.00 37 17 31.48 24 0 0.00 50 19 27.54 WWC1 0 genome.wustl.edu 37 5 167894930 167894930 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 167894930 167894930 G A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.3236 p.G1079D 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 - - 35 0 0.00 12 7 35.00 37 0 0.00 43 27 38.57 ERAP1 0 genome.wustl.edu 37 5 96098915 96098915 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 96098915 96098915 C T SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.2836 p.A946T 0.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 tier1 - - 46 0 0.00 41 33 44.59 37 0 0.00 31 29 48.33 ATR 0 genome.wustl.edu 37 3 142185195 142185195 + Missense_Mutation SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 3 142185195 142185195 A G SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.6868 p.W2290R 1.000 superfamily_Kinase-like_dom 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 - - 39 0 0.00 36 20 35.71 72 0 0.00 95 58 37.66 DDX19B 0 genome.wustl.edu 37 16 70363935 70363935 + Silent SNP G G T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 16 70363935 70363935 G T SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known silent c.987 p.G329 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 tier1 - - 103 0 0.00 66 28 29.79 45 0 0.00 55 28 33.73 BICD1 0 genome.wustl.edu 37 12 32369245 32369245 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 12 32369245 32369245 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.278 p.T93M 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 tier1 - - 74 0 0.00 39 19 32.20 54 0 0.00 55 14 20.29 SAP130 0 genome.wustl.edu 37 2 128700080 128700080 + Missense_Mutation SNP A A C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 128700080 128700080 A C SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.3011 p.L1004R 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 94 0 0.00 61 29 32.22 49 0 0.00 63 23 26.74 RPTN 0 genome.wustl.edu 37 1 152128339 152128339 + Missense_Mutation SNP A A T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 152128339 152128339 A T SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.1236 p.S412R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 tier1 - - 387 0 0.00 370 146 28.24 40 0 0.00 111 32 22.22 YWHAB 0 genome.wustl.edu 37 20 43532648 43532648 + Silent SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 20 43532648 43532648 A G SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known silent c.315 p.K105 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAB HGNC ENSG00000166913 tier1 - - 65 0 0.00 41 35 46.05 65 0 0.00 96 32 25.00 LOC101929290 0 genome.wustl.edu 37 8 11177509 11177509 + R SNP C C A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 8 11177509 11177509 C A SNP LOC101929290 ENST00000498997 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 tier1 - - 22 0 0.00 11 6 35.29 28 0 0.00 35 20 36.36 POTEF 0 genome.wustl.edu 37 2 130832919 130832919 + Missense_Mutation SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 130832919 130832919 A G SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2126 p.V709A 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 182 0 0.00 117 57 32.76 33 0 0.00 33 11 25.00 FCRL1 0 genome.wustl.edu 37 1 157772364 157772364 + Missense_Mutation SNP G G C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 157772364 157772364 G C SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.410 p.A137G 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 43 0 0.00 56 15 21.13 48 0 0.00 121 38 23.90 SYNJ2 0 genome.wustl.edu 37 6 158490642 158490642 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 6 158490642 158490642 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1877 p.S626L 0.994 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 106 0 0.00 81 39 32.50 31 0 0.00 48 31 39.24 SP4 0 genome.wustl.edu 37 7 21469742 21469742 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 7 21469742 21469742 C T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.959 p.S320F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 tier1 - - 97 0 0.00 25 36 59.02 50 0 0.00 34 39 53.42 PTPN22 0 genome.wustl.edu 37 1 114372223 114372223 + Silent SNP T T A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 114372223 114372223 T A SNP PTPN22 ENST00000359785 human ensembl 74_37 -1 known silent c.2241 p.T747 1.000 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC ENSG00000134242 tier1 - - 74 0 0.00 20 21 51.22 41 0 0.00 27 32 54.24 NEB 0 genome.wustl.edu 37 2 152426886 152426886 + Silent SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 152426886 152426886 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.17139 p.H5713 0.065 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 68 0 0.00 44 25 36.23 38 0 0.00 50 31 38.27 RSPH1 0 genome.wustl.edu 37 21 43905819 43905819 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 21 43905819 43905819 T C SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.461 p.H154R 1.000 smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 tier1 - - 47 0 0.00 21 20 48.78 82 0 0.00 30 38 55.88 IGF2BP1 0 genome.wustl.edu 37 17 47117380 47117380 + Missense_Mutation SNP A A T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 17 47117380 47117380 A T SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.745 p.T249S 0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 34 0 0.00 24 11 31.43 39 0 0.00 18 18 50.00 ALMS1 0 genome.wustl.edu 37 2 73676394 73676394 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 73676394 73676394 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.2737 p.P913S 0.002 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 28 0 0.00 41 10 19.61 73 0 0.00 107 35 24.65 CARNS1 0 genome.wustl.edu 37 11 67191267 67191267 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 11 67191267 67191267 T C SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.2048 p.V683A 1.000 pfscan_ATP-grasp superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 tier1 - - 30 0 0.00 8 13 61.90 24 0 0.00 21 8 27.59 FAM21A 0 genome.wustl.edu 37 10 51829380 51829380 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 10 51829380 51829380 G A SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.200 p.G67E 1.000 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 tier1 - - 113 0 0.00 68 21 23.60 67 0 0.00 92 28 23.33 ZNF141 0 genome.wustl.edu 37 4 376791 376791 + R SNP C C A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 4 376791 376791 C A SNP ZNF141 ENST00000579770 human ensembl 74_37 +1 known rna NULL NULL 0.089 - - - no_errors ZNF141 HGNC ENSG00000131127 tier1 - - 17 0 0.00 18 8 30.77 25 0 0.00 19 20 50.00 NFASC 0 genome.wustl.edu 37 1 204985815 204985815 + R SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 204985815 204985815 G A SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 48 0 0.00 42 19 31.15 49 0 0.00 115 25 17.86 PAPPA2 0 genome.wustl.edu 37 1 176668407 176668407 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 176668407 176668407 T C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2918 p.F973S 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 36 0 0.00 64 21 24.71 34 0 0.00 70 22 23.91 ATXN3L 0 genome.wustl.edu 37 X 13337121 13337121 + Silent SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 X 13337121 13337121 G A SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known silent c.933 p.H311 0.001 prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 tier1 - - 148 0 0.00 90 28 23.73 69 0 0.00 83 45 35.16 LSR 0 genome.wustl.edu 37 19 35758744 35758744 + Silent SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 19 35758744 35758744 G A SNP LSR ENST00000361790 human ensembl 74_37 +1 known silent c.1932 p.R644 0.991 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 tier1 - - 103 0 0.00 53 13 19.70 18 0 0.00 45 7 13.46 PPIL6 0 genome.wustl.edu 37 6 109748056 109748056 + Missense_Mutation SNP C C G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 6 109748056 109748056 C G SNP PPIL6 ENST00000521072 human ensembl 74_37 -1 known missense c.625 p.G209R 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 tier1 - - 43 0 0.00 32 16 33.33 62 0 0.00 76 42 35.29 HYDIN 0 genome.wustl.edu 37 16 71113818 71113818 + Missense_Mutation SNP G G T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 16 71113818 71113818 G T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.1708 p.P570T 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 28 0 0.00 9 7 43.75 52 0 0.00 60 40 40.00 XYLT2 0 genome.wustl.edu 37 17 48434025 48434025 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 17 48434025 48434025 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1636 p.G546S 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 27 0 0.00 16 7 30.43 17 0 0.00 11 14 56.00 DUSP27 0 genome.wustl.edu 37 1 167097466 167097466 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 167097466 167097466 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.3098 p.R1033Q 0.989 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 - - 30 0 0.00 30 8 21.05 56 1 1.75 143 36 20.11 DST 0 genome.wustl.edu 37 6 56472778 56472778 + Silent SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 6 56472778 56472778 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.6549 p.G2183 0.237 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_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 DST HGNC ENSG00000151914 tier1 - - 47 0 0.00 14 19 57.58 51 0 0.00 21 36 63.16 TTN 0 genome.wustl.edu 37 2 179469727 179469727 + Missense_Mutation SNP G G T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 179469727 179469727 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46473 p.H15491Q 0.044 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 54 0 0.00 32 12 27.27 66 0 0.00 115 64 35.75 ATM 0 genome.wustl.edu 37 11 108199905 108199905 + Missense_Mutation SNP T T C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 11 108199905 108199905 T C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.7247 p.L2416P 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 tier1 - - 36 0 0.00 17 23 57.50 58 0 0.00 40 44 52.38 AMACR 0 genome.wustl.edu 37 5 34005864 34005864 + Missense_Mutation SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 34005864 34005864 A G SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.388 p.S130P 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 17 0 0.00 23 5 17.24 51 0 0.00 67 36 34.62 PDE3A 0 genome.wustl.edu 37 12 20799442 20799444 + In_Frame_Del DEL CCA CCA - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 CCA CCA CCA - CCA CCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 12 20799442 20799444 CCA - DEL PDE3A ENST00000359062 human ensembl 74_37 +1 known in_frame_del c.2270_2272 p.T758in_frame_del 1.000:1.000:1.000 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 48 0 0.00 33 11 25.00 60 0 0.00 69 33 32.35 LOC440905 0 genome.wustl.edu 37 2 130792230 130792230 + R DEL A A - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 130792230 130792230 A - DEL LOC440905 ENST00000444030 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 23 0 0.00 17 7 29.17 53 0 0.00 67 45 40.18 PCDH9 0 genome.wustl.edu 37 13 67800272 67800282 + Frame_Shift_Del DEL AAGCGTGTGCA AAGCGTGTGCA - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 AAGCGTGTGCA AAGCGTGTGCA AAGCGTGTGCA - AAGCGTGTGCA AAGCGTGTGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 13 67800272 67800282 AAGCGTGTGCA - DEL PCDH9 ENST00000377865 human ensembl 74_37 -1 known frame_shift_del c.2301_2291 p.L764fs 0.015:0.996:0.997:0.267:0.988:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 56 0 0.00 24 7 22.58 56 0 0.00 24 7 22.58 DCAF17 0 genome.wustl.edu 37 2 172325408 172325409 + Frame_Shift_Ins INS - - T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 172325408 172325409 - T INS DCAF17 ENST00000375255 human ensembl 74_37 +1 known frame_shift_ins c.849_850 p.L283fs 0.959:0.976 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 tier1 63 0 0.00 42 12 22.22 57 0 0.00 73 9 10.98 SLC6A7 0 genome.wustl.edu 37 5 149583220 149583236 + Frame_Shift_Del DEL CCTGGCCCAGGCCCTGG CCTGGCCCAGGCCCTGG - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 CCTGGCCCAGGCCCTGG CCTGGCCCAGGCCCTGG CCTGGCCCAGGCCCTGG - CCTGGCCCAGGCCCTGG CCTGGCCCAGGCCCTGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 5 149583220 149583236 CCTGGCCCAGGCCCTGG - DEL SLC6A7 ENST00000230671 human ensembl 74_37 +1 known frame_shift_del c.1098_1094 p.A366fs 0.234:0.112:0.122:0.447:0.481:0.986:0.995:0.993:1.000:1.000:1.000:1.000:1.000:1.000:0.155:1.000:1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 tier1 20 0 0.00 26 3 10.34 20 0 0.00 26 3 10.34 VWF 0 genome.wustl.edu 37 12 6143854 6143858 + Frame_Shift_Del DEL CTGCA CTGCA - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 CTGCA CTGCA CTGCA - CTGCA CTGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 12 6143854 6143858 CTGCA - DEL VWF ENST00000261405 human ensembl 74_37 -1 known frame_shift_del c.2685_2681 p.V894fs 1.000:1.000:1.000:0.796:0.801 pirsf_VWF,pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 111 0 0.00 108 17 13.60 111 0 0.00 108 17 13.60 VWF 0 genome.wustl.edu 37 12 6143852 6143852 + Splice_Site DEL A A - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 12 6143852 6143852 A - DEL VWF ENST00000261405 human ensembl 74_37 -1 known splice_site_del c.2685+2 e19+2 1.000 - - - no_errors VWF HGNC ENSG00000110799 tier1 104 0 0.00 77 20 20.62 110 0 0.00 107 17 13.71 CATSPERD 0 genome.wustl.edu 37 19 5745969 5745979 + Frame_Shift_Del DEL CTGTCTTTTGA CTGTCTTTTGA - TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 CTGTCTTTTGA CTGTCTTTTGA CTGTCTTTTGA - CTGTCTTTTGA CTGTCTTTTGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 19 5745969 5745979 CTGTCTTTTGA - DEL CATSPERD ENST00000381624 human ensembl 74_37 +1 known frame_shift_del c.703_713 p.S236fs 0.018:0.019:0.007:0.005:0.038:0.040:0.055:0.053:0.027:0.013:0.011 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 57 0 0.00 59 11 15.71 57 0 0.00 59 11 15.71 COL6A3 0 genome.wustl.edu 37 2 238232753 238232754 + R INS - - C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 2 238232753 238232754 - C INS COL6A3 ENST00000473258 human ensembl 74_37 -1 known rna NULL NULL 0.025:0.031 - - - no_errors COL6A3 HGNC ENSG00000163359 tier1 72 0 0.00 32 23 41.82 21 0 0.00 19 24 55.81 ZNF230 0 genome.wustl.edu 37 19 44514834 44514835 + Frame_Shift_Ins INS - - C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 19 44514834 44514835 - C INS ZNF230 ENST00000429154 human ensembl 74_37 +1 known frame_shift_ins c.643_644 p.E215fs 0.009:0.003 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 ZNF230 HGNC ENSG00000159882 tier1 136 0 0.00 63 38 37.62 8 0 0.00 8 8 50.00 TNR 0 genome.wustl.edu 37 1 175325480 175325480 + Silent SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 1 175325480 175325480 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3093 p.G1031 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 81 0 0.00 120 11 8.40 90 0 0.00 235 16 6.37 MMP16 0 genome.wustl.edu 37 8 89128891 89128891 + Missense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 8 89128891 89128891 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.928 p.R310C 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 rs202054317 GMAF=0.0005 99 0 0.00 65 31 32.29 44 1 2.22 50 28 35.44 SAA3P 0 genome.wustl.edu 37 11 18134251 18134251 + R SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 11 18134251 18134251 C T SNP SAA3P ENST00000534768 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SAA3P HGNC ENSG00000166787 tier1 - - 66 0 0.00 32 20 38.46 39 1 2.50 33 44 57.14 OR12D2 0 genome.wustl.edu 37 6 29365079 29365079 + Silent SNP G G T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 6 29365079 29365079 G T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known silent c.603 p.T201 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 57 0 0.00 14 22 61.11 55 0 0.00 25 41 62.12 PCMTD1 0 genome.wustl.edu 37 8 52732893 52732894 + R INS - - C TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 74_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC ENSG00000168300 tier1 52 0 0.00 65 8 10.96 12 0 0.00 5 0 0.00 SLC19A1 0 genome.wustl.edu 37 21 46951894 46951894 + Nonsense_Mutation SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 21 46951894 46951894 G A SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known nonsense c.358 p.Q120* 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 - - 30 0 0.00 14 4 22.22 10 0 0.00 9 0 0.00 GOLGA6D 0 genome.wustl.edu 37 15 75585465 75585465 + Missense_Mutation SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 15 75585465 75585465 C T SNP GOLGA6D ENST00000434739 human ensembl 74_37 +1 known missense c.1553 p.T518M 0.000 NULL NULL - no_errors GOLGA6D HGNC ENSG00000140478 tier1 - - 100 0 0.00 63 13 17.11 1 0 0.00 0 0 0.00 MIR3689B 0 genome.wustl.edu 37 9 137742041 137742041 + R SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 9 137742041 137742041 G A SNP MIR3689B ENST00000581772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3689B HGNC ENSG00000264163 tier1 rs35679521 - 69 0 0.00 61 9 12.68 0 0 0.00 2 0 0.00 ENSG00000261720 0 genome.wustl.edu 37 16 1116295 1116295 + R SNP C C T TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 16 1116295 1116295 C T SNP ENSG00000261720 ENST00000564390 human ensembl 74_37 +1 known rna NULL NULL 0.319 - - - no_errors RP11-161M6.5 Clone_based_vega_gene ENSG00000261720 tier1 - - 14 0 0.00 6 13 68.42 0 0 0.00 2 2 50.00 ZNF534 0 genome.wustl.edu 37 19 52938381 52938381 + Missense_Mutation SNP A A G TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8529e1a2-7633-4494-b732-fcc8c189c723 a594b20f-78f1-4df9-a48b-24425afb78c3 19 52938381 52938381 A G SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.229 p.R77G 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF534 HGNC ENSG00000198633 tier1 - - 100 0 0.00 78 17 17.89 8 0 0.00 29 3 9.38