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 BPIFB3 0 genome.wustl.edu 37 20 31643232 31643232 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 20 31643232 31643232 G T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known missense c.3 p.M1I 0.182 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 tier1 - - 31 0 0.00 18 20 52.63 SHANK2 0 genome.wustl.edu 37 11 70332048 70332048 + Silent SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 70332048 70332048 C A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.4353 p.S1451 0.015 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 33 0 0.00 45 19 29.69 MTND1P15 0 genome.wustl.edu 37 17 22024247 22024247 + R SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 22024247 22024247 A G SNP MTND1P15 ENST00000579693 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors MTND1P15 HGNC ENSG00000264168 tier1 - - 31 0 0.00 19 18 48.65 CC2D2B 0 genome.wustl.edu 37 10 97728636 97728636 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 10 97728636 97728636 G T SNP CC2D2B ENST00000472454 human ensembl 74_37 +1 novel missense c.614 p.W205L 1.000 NULL NULL - no_errors RP11-248J23.6 Clone_based_vega_gene ENSG00000269948 tier1 - - 32 0 0.00 29 4 12.12 KIAA0922 0 genome.wustl.edu 37 4 154544148 154544148 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 4 154544148 154544148 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.3958 p.R1320W 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 rs148556115 GMAF=0.0005 16 0 0.00 13 6 31.58 RBM19 0 genome.wustl.edu 37 12 114384227 114384227 + Silent SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 114384227 114384227 A G SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known silent c.1461 p.D487 0.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 48 0 0.00 19 9 32.14 ESPNP 0 genome.wustl.edu 37 1 17034456 17034463 + R DEL GCGCGCGT GCGCGCGT - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GCGCGCGT GCGCGCGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 17034456 17034463 GCGCGCGT - DEL ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:0.990:0.984:0.981:0.981:0.989:0.998 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 ENSG00000261238 0 genome.wustl.edu 37 16 51183170 51183171 + R INS - - T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 51183170 51183171 - T INS ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 32 0 0.00 23 3 11.54 RPTN 0 genome.wustl.edu 37 1 152128045 152128045 + Silent SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 152128045 152128045 G A SNP RPTN ENST00000316073 human ensembl 74_37 -1 known silent c.1530 p.H510 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 tier1 - - 141 0 0.00 325 92 22.06 GJD3 0 genome.wustl.edu 37 17 38517389 38517389 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 38517389 38517389 G A SNP GJD3 ENST00000337376 human ensembl 74_37 -1 known missense c.737 p.P246L 0.158 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD3 HGNC ENSG00000183153 tier1 - - 21 0 0.00 31 15 32.61 C6 0 genome.wustl.edu 37 5 41153915 41153915 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 5 41153915 41153915 T C SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2287 p.K763E 0.998 pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 58 0 0.00 45 20 30.77 RNF8 0 genome.wustl.edu 37 6 37321910 37321910 + R SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 37321910 37321910 G A SNP RNF8 ENST00000479516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF8 HGNC ENSG00000112130 tier1 - - 13 0 0.00 13 6 31.58 DGKG 0 genome.wustl.edu 37 3 185979537 185979537 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 185979537 185979537 G T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.1300 p.P434T 1.000 smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 tier1 - - 81 0 0.00 45 47 51.09 CSPG4P8 0 genome.wustl.edu 37 15 82764545 82764545 + R SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 15 82764545 82764545 C T SNP CSPG4P8 ENST00000342039 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CSPG4P8 HGNC ENSG00000188384 tier1 - - 9 0 0.00 1 8 88.89 ASXL1 0 genome.wustl.edu 37 20 31022346 31022346 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 20 31022346 31022346 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1831 p.A611T 0.406 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 77 0 0.00 84 32 27.59 MS4A2 0 genome.wustl.edu 37 11 59857211 59857211 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 59857211 59857211 T C SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.103 p.S35P 0.000 NULL pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 tier1 - - 38 0 0.00 25 19 43.18 EXOC7 0 genome.wustl.edu 37 17 74079821 74079821 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 74079821 74079821 C T SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.2116 p.V706M 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 tier1 - - 28 0 0.00 25 12 32.43 SVEP1 0 genome.wustl.edu 37 9 113139339 113139349 + R DEL TTAGATGGATC TTAGATGGATC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TTAGATGGATC TTAGATGGATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 113139339 113139349 TTAGATGGATC - DEL SVEP1 ENST00000476205 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002:0.000:0.000:0.006:0.013:0.026:0.029:0.025:0.023:0.001 - - - no_errors SVEP1 HGNC ENSG00000165124 tier1 ACAD11 0 genome.wustl.edu 37 3 132378670 132378670 + R SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 132378670 132378670 G T SNP ACAD11 ENST00000489991 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACAD11 HGNC ENSG00000240303 tier1 - - 20 0 0.00 10 3 23.08 PTK2B 0 genome.wustl.edu 37 8 27297937 27297937 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 8 27297937 27297937 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2018 p.T673I 0.994 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 34 0 0.00 39 4 9.30 DNM1P46 0 genome.wustl.edu 37 15 100332256 100332256 + R SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 15 100332256 100332256 C T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 67 0 0.00 40 59 59.60 PCF11 0 genome.wustl.edu 37 11 82880377 82880377 + Silent SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 82880377 82880377 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.3000 p.V1000 0.276 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 62 0 0.00 43 15 25.86 ENSG00000228463 0 genome.wustl.edu 37 1 234399 234399 + R SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 234399 234399 G A SNP ENSG00000228463 ENST00000442116 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors AP006222.2 Clone_based_vega_gene ENSG00000228463 tier1 - - 56 0 0.00 43 15 25.86 V3 0 genome.wustl.edu 37 12 78334106 78334106 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 78334106 78334106 C T SNP V3 ENST00000397909 human ensembl 74_37 +1 known missense c.251 p.T84I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V3 HGNC ENSG00000067798 tier1 - - 23 0 0.00 20 6 23.08 CDH5 0 genome.wustl.edu 37 16 66423366 66423366 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 66423366 66423366 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.722 p.T241M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 tier1 - - 38 0 0.00 7 19 73.08 NOP56 0 genome.wustl.edu 37 20 2633399 2633404 + R DEL GCCTGC GCCTGC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GCCTGC GCCTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 20 2633399 2633404 GCCTGC - DEL NOP56 ENST00000469588 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002:0.002:0.002:0.001:0.000 - - - no_errors NOP56 HGNC ENSG00000101361 tier1 VPS13D 0 genome.wustl.edu 37 1 12382722 12382722 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 12382722 12382722 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.7834 p.V2612I 0.000 superfamily_UBA-like pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 rs139303925 - 41 0 0.00 23 24 51.06 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 PARP8 0 genome.wustl.edu 37 5 50130780 50130780 + Missense_Mutation SNP A A C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 5 50130780 50130780 A C SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.2393 p.D798A 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 35 0 0.00 43 18 29.51 MYH10 0 genome.wustl.edu 37 17 8383788 8383788 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 8383788 8383788 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5290 p.E1764K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 27 0 0.00 13 12 48.00 TOP2B 0 genome.wustl.edu 37 3 25685245 25685245 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 25685245 25685245 T C SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.271 p.M91V 1.000 superfamily_HATPase_ATP-bd pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 73 0 0.00 36 19 34.55 SPATA31D3 0 genome.wustl.edu 37 9 84563040 84563040 + R SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 84563040 84563040 C A SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors SPATA31D3 HGNC ENSG00000186788 tier1 - - 48 0 0.00 43 14 24.56 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + R DEL AG AG - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 tier1 25 0 0.00 19 2 9.52 ATP2B1 0 genome.wustl.edu 37 12 90028611 90028611 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 90028611 90028611 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.731 p.T244I 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 tier1 - - 25 0 0.00 62 33 34.38 HLA-DQB2 0 genome.wustl.edu 37 6 32726804 32726804 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 32726804 32726804 G A SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known missense c.469 p.R157W 0.166 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 tier1 - - 39 0 0.00 44 41 48.24 SNHG7 0 genome.wustl.edu 37 9 139620999 139621003 + R DEL TGACC TGACC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TGACC TGACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 139620999 139621003 TGACC - DEL SNHG7 ENST00000447221 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001:0.000:0.000:0.000 - - - no_errors SNHG7 HGNC ENSG00000233016 tier1 KDM5C 0 genome.wustl.edu 37 X 53223903 53223903 + Missense_Mutation SNP C C G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 X 53223903 53223903 C G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.3456 p.E1152D 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,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 KDM5C HGNC ENSG00000126012 tier1 - - 29 0 0.00 14 15 51.72 NPTX1 0 genome.wustl.edu 37 17 78447139 78447139 + Missense_Mutation SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 78447139 78447139 A G SNP NPTX1 ENST00000306773 human ensembl 74_37 -1 known missense c.758 p.F253S 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 tier1 - - 44 0 0.00 42 15 26.32 PASK 0 genome.wustl.edu 37 2 242047682 242047682 + Silent SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 2 242047682 242047682 C A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.3588 p.L1196 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 - - 29 0 0.00 24 13 35.14 NF1 0 genome.wustl.edu 37 17 29667612 29667632 + In_Frame_Del DEL TCTTGAACAAAACCTGCATAC TCTTGAACAAAACCTGCATAC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TCTTGAACAAAACCTGCATAC TCTTGAACAAAACCTGCATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 29667612 29667632 TCTTGAACAAAACCTGCATAC - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known in_frame_del c.7011_7031 p.EQNLHTL2339in_frame_del 0.993:1.000:1.000:0.436:1.000:1.000:0.970:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 NF1 0 genome.wustl.edu 37 17 29667610 29667610 + Frame_Shift_Del DEL C C - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 17 29667610 29667610 C - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.7009 p.L2337fs 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 45 0 0.00 7 9 56.25 FAM182B 0 genome.wustl.edu 37 20 25755685 25755685 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 20 25755685 25755685 C T SNP FAM182B ENST00000376403 human ensembl 74_37 -1 putative missense c.271 p.E91K 0.139 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 91 0 0.00 77 30 28.04 PCDH17 0 genome.wustl.edu 37 13 58206991 58206991 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 13 58206991 58206991 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.311 p.L104P 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 22 0 0.00 5 10 66.67 GAS6 0 genome.wustl.edu 37 13 114549526 114549526 + Frame_Shift_Del DEL T T - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 13 114549526 114549526 T - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.317 p.N106fs 0.003 superfamily_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 tier1 28 0 0.00 23 4 14.81 ATP8A1 0 genome.wustl.edu 37 4 42554560 42554560 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 4 42554560 42554560 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.1481 p.R494Q 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 30 0 0.00 46 7 13.21 ADAM28 0 genome.wustl.edu 37 8 24157585 24157585 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 8 24157585 24157585 C A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.145 p.Q49K 0.084 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 33 0 0.00 23 12 34.29 ZFP42 0 genome.wustl.edu 37 4 188924482 188924482 + Missense_Mutation SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 4 188924482 188924482 A G SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.521 p.K174R 0.599 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 14 0 0.00 22 6 21.43 HOXA4 0 genome.wustl.edu 37 7 27169165 27169165 + Missense_Mutation SNP C C G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 7 27169165 27169165 C G SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.642 p.E214D 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 tier1 - - 25 0 0.00 2 18 90.00 KLK13 0 genome.wustl.edu 37 19 51563083 51563083 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 51563083 51563083 C A SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.507 p.Q169H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 tier1 - - 53 0 0.00 52 27 34.18 ZCCHC9 0 genome.wustl.edu 37 5 80604773 80604773 + Missense_Mutation SNP C C G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 5 80604773 80604773 C G SNP ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known missense c.544 p.P182A 1.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 tier1 - - 51 0 0.00 41 6 12.77 SETD2 0 genome.wustl.edu 37 3 47163488 47163488 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 47163488 47163488 C A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.2638 p.A880S 0.944 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 25 0 0.00 21 3 12.50 MYO6 0 genome.wustl.edu 37 6 76617358 76617358 + Silent SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 76617358 76617358 T C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known silent c.3243 p.G1081 0.992 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 50 0 0.00 25 25 50.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793766 67793766 + R DEL A A - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 67793766 67793766 A - DEL ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 8 0 0.00 10 5 33.33 LOC101929847 0 genome.wustl.edu 37 15 84873329 84873329 + R SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 15 84873329 84873329 C T SNP LOC101929847 ENST00000561015 human ensembl 74_37 -1 known rna NULL NULL 0.219 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 tier1 - - 13 0 0.00 16 10 38.46 MUC1 0 genome.wustl.edu 37 1 155161899 155161899 + Silent SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 155161899 155161899 G A SNP MUC1 ENST00000368395 human ensembl 74_37 -1 known silent c.234 p.V78 0.019 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 tier1 - - 14 0 0.00 1 25 96.15 NLRP11 0 genome.wustl.edu 37 19 56320357 56320357 + Missense_Mutation SNP G G C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 56320357 56320357 G C SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.1619 p.T540R 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 18 0 0.00 6 4 40.00 AKR7L 0 genome.wustl.edu 37 1 19593931 19593931 + Silent SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 19593931 19593931 G A SNP AKR7L ENST00000420396 human ensembl 74_37 -1 known silent c.325 p.L109 1.000 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom - no_errors AKR7L HGNC ENSG00000211454 tier1 - - 50 0 0.00 34 27 44.26 MAGI1 0 genome.wustl.edu 37 3 65342712 65342712 + Missense_Mutation SNP A A T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 65342712 65342712 A T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.3730 p.S1244T 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 32 0 0.00 0 15 93.75 ENSG00000221672 0 genome.wustl.edu 37 22 47243850 47243855 + R DEL GTGCGC GTGCGC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GTGCGC GTGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 22 47243850 47243855 GTGCGC - DEL ENSG00000221672 ENST00000408745 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.003:0.004:0.001:0.001:0.001 - - - no_errors Z97351.1 Clone_based_ensembl_gene ENSG00000221672 tier1 LOC100287177 0 genome.wustl.edu 37 19 46145741 46145741 + Silent SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 46145741 46145741 A G SNP LOC100287177 ENST00000593161 human ensembl 74_37 +1 putative silent c.282 p.G94 0.068 NULL NULL - no_errors AC006132.1 Clone_based_vega_gene ENSG00000267757 tier1 - - 23 0 0.00 22 22 50.00 VPS13A 0 genome.wustl.edu 37 9 79999548 79999550 + In_Frame_Del DEL TGA TGA - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 79999548 79999550 TGA - DEL VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_del c.9237_9239 p.D3083in_frame_del 0.999:0.998:0.997 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 15 0 0.00 16 2 11.11 GLYR1 0 genome.wustl.edu 37 16 4861209 4861209 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 4861209 4861209 C T SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.1549 p.V517I 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_DP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 tier1 - - 47 0 0.00 45 4 8.16 STARD9 0 genome.wustl.edu 37 15 42985060 42985060 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 15 42985060 42985060 G A SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.11284 p.E3762K 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 30 0 0.00 38 15 28.30 KPRP 0 genome.wustl.edu 37 1 152733278 152733278 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 152733278 152733278 G A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1214 p.R405H 0.049 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 13 0 0.00 4 27 87.10 AIFM1 0 genome.wustl.edu 37 X 129290459 129290459 + Missense_Mutation SNP T T A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 X 129290459 129290459 T A SNP AIFM1 ENST00000287295 human ensembl 74_37 -1 known missense c.225 p.L75F 0.990 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_OxRdtase_D-bd_dom,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 tier1 - - 59 0 0.00 20 3 13.04 FAT3 0 genome.wustl.edu 37 11 92531098 92531098 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 92531098 92531098 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4919 p.S1640Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 44 0 0.00 44 4 8.33 AHK 0 genome.wustl.edu 37 11 62286369 62286369 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 62286369 62286369 T C SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.15520 p.N5174D 0.569 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 31 0 0.00 25 15 37.50 MIR3677 0 genome.wustl.edu 37 16 2320736 2320736 + R SNP T T A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 2320736 2320736 T A SNP MIR3677 ENST00000578964 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3677 HGNC ENSG00000266643 tier1 - - 42 0 0.00 42 8 16.00 ZNF728 0 genome.wustl.edu 37 19 23158575 23158575 + Missense_Mutation SNP T T G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 23158575 23158575 T G SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel missense c.1564 p.N522H 0.000 pfam_Znf_C2H2,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 ZNF728 HGNC ENSG00000269067 tier1 - - 14 0 0.00 8 18 69.23 ZBED3-AS1 0 genome.wustl.edu 37 5 76442965 76442967 + R DEL GAT GAT - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 5 76442965 76442967 GAT - DEL ZBED3-AS1 ENST00000515356 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.998:0.997 - - - no_errors ZBED3-AS1 HGNC ENSG00000250802 tier1 14 0 0.00 8 7 46.67 PAX4 0 genome.wustl.edu 37 7 127251688 127251688 + Nonsense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 7 127251688 127251688 C A SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known nonsense c.790 p.E264* 0.212 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 32 0 0.00 42 4 8.70 HNRNPA3 0 genome.wustl.edu 37 2 178081298 178081298 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 2 178081298 178081298 G T SNP HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known missense c.621 p.M207I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 tier1 - - 48 0 0.00 53 7 11.67 RXRA 0 genome.wustl.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 137328351 137328351 C A SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.1280 p.S427Y 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 tier1 - - 40 0 0.00 81 15 15.62 SS18 0 genome.wustl.edu 37 18 23612405 23612405 + Silent SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 18 23612405 23612405 T C SNP SS18 ENST00000415083 human ensembl 74_37 -1 known silent c.1188 p.G396 1.000 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 tier1 - - 105 0 0.00 55 29 34.52 MMP27 0 genome.wustl.edu 37 11 102567418 102567418 + Silent SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 102567418 102567418 G T SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known silent c.768 p.I256 0.999 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 35 0 0.00 36 4 10.00 APEH 0 genome.wustl.edu 37 3 49717990 49717990 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 49717990 49717990 C A SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.1227 p.S409R 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 tier1 - - 47 0 0.00 28 20 41.67 PKD2 0 genome.wustl.edu 37 4 88929174 88929176 + In_Frame_Del DEL GAG GAG - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 4 88929174 88929176 GAG - DEL PKD2 ENST00000237596 human ensembl 74_37 +1 known in_frame_del c.289_291 p.E100in_frame_del 1.000:1.000:1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2 HGNC ENSG00000118762 tier1 26 0 0.00 23 2 8.00 TAS1R1 0 genome.wustl.edu 37 1 6637055 6637055 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 6637055 6637055 C T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known nonsense c.1519 p.R507* 0.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 tier1 - - 56 0 0.00 3 41 93.18 FANCC 0 genome.wustl.edu 37 9 98011420 98011420 + Missense_Mutation SNP A A T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 98011420 98011420 A T SNP FANCC ENST00000289081 human ensembl 74_37 -1 known missense c.154 p.L52M 0.963 pfam_Fanconi,pirsf_Fanconi,prints_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 tier1 - - 27 0 0.00 32 15 31.91 PIWIL1 0 genome.wustl.edu 37 12 130834413 130834413 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 130834413 130834413 G T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.945 p.K315N 0.843 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 68 0 0.00 72 32 30.77 PPP6R2 0 genome.wustl.edu 37 22 50857777 50857777 + Splice_Site SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 22 50857777 50857777 G T SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known splice_site c.732-1 e6-1 1.000 - - - no_errors PPP6R2 HGNC ENSG00000100239 tier1 - - 32 0 0.00 28 4 12.50 IRF5 0 genome.wustl.edu 37 7 128587589 128587589 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 7 128587589 128587589 C A SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.787 p.L263M 0.005 superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF5 HGNC ENSG00000128604 tier1 - - 33 0 0.00 45 4 8.16 EPM2A 0 genome.wustl.edu 37 6 145948787 145948787 + Missense_Mutation SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 145948787 145948787 G A SNP EPM2A ENST00000367519 human ensembl 74_37 -1 known missense c.761 p.A254V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_CBM_fam20,superfamily_Carb-bd-like_fold,smart_Dual-sp_phosphatase_subgr_cat,pfscan_CBM_fam20,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors EPM2A HGNC ENSG00000112425 tier1 rs138798058 - 34 0 0.00 56 19 25.33 MGAM 0 genome.wustl.edu 37 7 141736023 141736023 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 7 141736023 141736023 C T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2014 p.R672W 0.918 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 56 0 0.00 63 64 50.39 OR9K2 0 genome.wustl.edu 37 12 55524485 55524485 + Silent SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 55524485 55524485 G A SNP OR9K2 ENST00000305377 human ensembl 74_37 +1 known silent c.933 p.L311 0.901 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 tier1 - - 62 0 0.00 60 22 26.83 HOOK1 0 genome.wustl.edu 37 1 60338568 60338568 + Silent SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 60338568 60338568 G A SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known silent c.2118 p.A706 0.835 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 45 0 0.00 6 38 86.36 RAP2C 0 genome.wustl.edu 37 X 131351130 131351130 + Missense_Mutation SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 X 131351130 131351130 A G SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known missense c.167 p.L56P 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 tier1 - - 49 0 0.00 2 25 92.59 RIMBP3 0 genome.wustl.edu 37 22 20458271 20458271 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 22 20458271 20458271 T C SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.3031 p.I1011V 0.007 superfamily_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 tier1 - - 61 0 0.00 61 22 26.51 LHCGR 0 genome.wustl.edu 37 2 48982755 48982756 + In_Frame_Ins INS - - GCTGCA TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 2 48982755 48982756 - GCTGCA INS LHCGR ENST00000294954 human ensembl 74_37 -1 known in_frame_ins c.56_55 p.19in_frame_insLQ 0.000:0.001 prints_TSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 FOXP1 0 genome.wustl.edu 37 3 71008341 71008342 + R INS - - T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 71008341 71008342 - T INS FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.616:0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 41 0 0.00 32 4 11.11 TESK2 0 genome.wustl.edu 37 1 45809609 45809610 + R INS - - A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 45809609 45809610 - A INS TESK2 ENST00000486676 human ensembl 74_37 -1 known rna NULL NULL 0.501:0.794 - - - no_errors TESK2 HGNC ENSG00000070759 tier1 40 0 0.00 45 6 11.76 TTN 0 genome.wustl.edu 37 2 179623770 179623770 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 2 179623770 179623770 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10244 p.T3415K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 - - 37 0 0.00 8 23 74.19 ENSG00000223200 0 genome.wustl.edu 37 5 60853135 60853135 + R SNP T T A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 5 60853135 60853135 T A SNP ENSG00000223200 ENST00000411268 human ensembl 74_37 +1 novel rna NULL NULL 0.281 - - - no_errors AC008836.1 Clone_based_ensembl_gene ENSG00000223200 tier1 - - 22 0 0.00 24 7 22.58 ENSG00000215941 0 genome.wustl.edu 37 3 38948822 38948841 + R DEL TGTGTGTGTGTGTATATATC TGTGTGTGTGTGTATATATC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 TGTGTGTGTGTGTATATATC TGTGTGTGTGTGTATATATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 38948822 38948841 TGTGTGTGTGTGTATATATC - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.193:0.195:0.137:0.126:0.125:0.119:0.107:0.069:0.062:0.049:0.028:0.020:0.007:0.002:0.001:0.001:0.002:0.002:0.002:0.001 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 ENSG00000236233 0 genome.wustl.edu 37 9 67793683 67793684 + R INS - - CT TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 9 67793683 67793684 - CT INS ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.063:0.065 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 16 0 0.00 15 7 31.82 FRMPD2 0 genome.wustl.edu 37 10 49371536 49371536 + Missense_Mutation SNP T T C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 10 49371536 49371536 T C SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.3716 p.Q1239R 0.011 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 36 0 0.00 19 14 41.18 C12orf66 0 genome.wustl.edu 37 12 64588028 64588028 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 64588028 64588028 G T SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.932 p.A311D 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 29 0 0.00 38 4 9.52 PKHD1 0 genome.wustl.edu 37 6 51923201 51923201 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 51923201 51923201 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.1432 p.L478M 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 32 0 0.00 54 25 31.65 EOGT 0 genome.wustl.edu 37 3 69026829 69026829 + Silent SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 69026829 69026829 A G SNP EOGT ENST00000383701 human ensembl 74_37 -1 known silent c.1524 p.A508 0.997 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 tier1 - - 57 0 0.00 8 76 90.48 QRICH1 0 genome.wustl.edu 37 3 49114374 49114374 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 49114374 49114374 C A SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known missense c.77 p.R26M 1.000 superfamily_DEATH-like_dom pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 tier1 - - 43 0 0.00 40 4 9.09 CCDC168 0 genome.wustl.edu 37 13 103386903 103386903 + Missense_Mutation SNP C C A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 13 103386903 103386903 C A SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known missense c.2257 p.D753Y 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 22 0 0.00 0 9 100.00 ROBO2 0 genome.wustl.edu 37 3 77651591 77651591 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 77651591 77651591 G T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3085 p.D1029Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 40 0 0.00 14 10 41.67 ENSG00000268889 0 genome.wustl.edu 37 19 51906690 51906690 + R SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 51906690 51906690 G T SNP ENSG00000268889 ENST00000600765 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2616J11.14 Clone_based_vega_gene ENSG00000268889 tier1 - - 35 0 0.00 39 4 9.30 GOLGB1 0 genome.wustl.edu 37 3 121448877 121448877 + R DEL A A - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 121448877 121448877 A - DEL GOLGB1 ENST00000472829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGB1 HGNC ENSG00000173230 tier1 28 0 0.00 17 2 10.53 GUCY2EP 0 genome.wustl.edu 37 11 76415291 76415291 + R SNP G G A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 11 76415291 76415291 G A SNP GUCY2EP ENST00000526984 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors GUCY2EP HGNC ENSG00000204529 tier1 - - 42 0 0.00 44 99 69.23 SPEG 0 genome.wustl.edu 37 2 220330645 220330656 + R DEL GCGCGCGTGTGC GCGCGCGTGTGC - TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 GCGCGCGTGTGC GCGCGCGTGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 2 220330645 220330656 GCGCGCGTGTGC - DEL SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.006:0.004:0.001:0.002:0.003:0.005:0.006:0.006:0.000:0.000:0.000 - - - no_errors SPEG HGNC ENSG00000072195 tier1 MGAT4C 0 genome.wustl.edu 37 12 86383241 86383241 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 86383241 86383241 G T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.171 p.F57L 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 tier1 - - 46 0 0.00 44 15 25.42 SEC62 0 genome.wustl.edu 37 3 169703617 169703617 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 3 169703617 169703617 G T SNP SEC62 ENST00000337002 human ensembl 74_37 +1 known missense c.574 p.V192F 1.000 pfam_Sec62,superfamily_ABC1_TM_dom pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 tier1 - - 42 0 0.00 41 4 8.89 HIST1H2AG 0 genome.wustl.edu 37 6 27100857 27100857 + Missense_Mutation SNP G G C TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 6 27100857 27100857 G C SNP HIST1H2AG ENST00000359193 human ensembl 74_37 +1 known missense c.7 p.G3R 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 tier1 - - 42 0 0.00 36 4 10.00 PAPD5 0 genome.wustl.edu 37 16 50265726 50265726 + R SNP A A G TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 50265726 50265726 A G SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 9 0 0.00 1 8 88.89 STXBP3 0 genome.wustl.edu 37 1 109322344 109322345 + R INS - - ATATTT TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 1 109322344 109322345 - ATATTT INS STXBP3 ENST00000485167 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors STXBP3 HGNC ENSG00000116266 tier1 PFKFB1 0 genome.wustl.edu 37 X 54978378 54978378 + Missense_Mutation SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 X 54978378 54978378 C T SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.806 p.R269H 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 tier1 - - 24 0 0.00 15 10 40.00 UBE2I 0 genome.wustl.edu 37 16 1358487 1358488 + R INS - - AGGGGA TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 1358487 1358488 - AGGGGA INS UBE2I ENST00000339021 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors UBE2I HGNC ENSG00000103275 tier1 TBC1D8B 0 genome.wustl.edu 37 X 106117042 106117042 + Missense_Mutation SNP G G T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 X 106117042 106117042 G T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.3210 p.R1070S 0.021 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 - - 56 0 0.00 20 3 13.04 KRT75 0 genome.wustl.edu 37 12 52818504 52818504 + Missense_Mutation SNP T T A TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 12 52818504 52818504 T A SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1453 p.S485C 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 tier1 - - 35 0 0.00 49 74 57.36 MIR3677 0 genome.wustl.edu 37 16 2320734 2320734 + R SNP A A T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 16 2320734 2320734 A T SNP MIR3677 ENST00000578964 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR3677 HGNC ENSG00000266643 tier1 - - 42 0 0.00 42 7 14.29 ZNF671 0 genome.wustl.edu 37 19 58238816 58238816 + Silent SNP C C T TCGA-QQ-A5VC-01A-31D-A32I-09 TCGA-QQ-A5VC-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d32637db-0977-496a-a037-e5d83bd5b23b d387978b-317e-41be-bf28-99e243e7d023 19 58238816 58238816 C T SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known silent c.81 p.P27 0.000 NULL 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 ZNF671 HGNC ENSG00000083814 tier1 - - 74 0 0.00 30 26 45.61