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 ACSBG2 0 genome.wustl.edu 37 19 6147680 6147680 + Missense_Mutation SNP G G C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 6147680 6147680 G C SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known missense c.291 p.L97F 0.284 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 tier1 - - 31 0 0.00 38 5 11.63 20 0 0.00 39 6 13.33 GMIP 0 genome.wustl.edu 37 19 19746001 19746001 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 19746001 19746001 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1582 p.R528C 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 23 0 0.00 33 17 34.00 112 0 0.00 82 26 24.07 FAM169A 0 genome.wustl.edu 37 5 74100335 74100335 + Missense_Mutation SNP T T A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 74100335 74100335 T A SNP FAM169A ENST00000389156 human ensembl 74_37 -1 known missense c.895 p.S299C 0.715 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 tier1 - - 45 0 0.00 34 5 12.82 94 0 0.00 81 13 13.83 DAPL1 0 genome.wustl.edu 37 2 159651908 159651908 + Silent SNP G G C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 159651908 159651908 G C SNP DAPL1 ENST00000309950 human ensembl 74_37 +1 known silent c.24 p.L8 0.967 NULL NULL - no_errors DAPL1 HGNC ENSG00000163331 tier1 - - 51 0 0.00 44 11 20.00 36 0 0.00 38 7 15.56 CNTP3 0 genome.wustl.edu 37 9 39085765 39085765 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 9 39085765 39085765 G A SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known missense c.3410 p.A1137V 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 314 1 0.32 216 223 50.80 95 0 0.00 62 70 53.03 PCDHA5 0 genome.wustl.edu 37 5 140202746 140202746 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 140202746 140202746 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1386 p.F462 0.919 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 121 0 0.00 69 95 57.93 27 0 0.00 16 9 36.00 SLC52A3 0 genome.wustl.edu 37 20 746375 746375 + Missense_Mutation SNP C C A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 20 746375 746375 C A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known missense c.44 p.G15V 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 tier1 - - 36 0 0.00 18 8 30.77 29 0 0.00 30 7 18.92 FRMD3 0 genome.wustl.edu 37 9 85863362 85863362 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 9 85863362 85863362 C T SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.1265 p.R422Q 0.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 tier1 - - 62 0 0.00 49 10 16.95 85 0 0.00 75 11 12.79 NRD1 0 genome.wustl.edu 37 1 52254982 52254982 + Missense_Mutation SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 1 52254982 52254982 T C SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.3586 p.I1196V 0.022 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 tier1 - - 38 0 0.00 41 46 52.87 110 0 0.00 75 45 37.19 KYNU 0 genome.wustl.edu 37 2 143798011 143798011 + Silent SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 143798011 143798011 G A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known silent c.1056 p.A352 0.989 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 tier1 - - 43 0 0.00 33 7 17.50 78 0 0.00 86 10 10.42 C12orf55 0 genome.wustl.edu 37 12 96900705 96900705 + Splice_Site SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 12 96900705 96900705 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative splice_site c.568-1 e4-1 1.000 - - - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 73 0 0.00 51 31 37.80 90 0 0.00 49 31 38.75 KLHL3 0 genome.wustl.edu 37 5 137045465 137045465 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 137045465 137045465 C T SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known missense c.215 p.S72N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 tier1 - - 40 0 0.00 23 22 48.89 76 0 0.00 37 23 38.33 PCSK2 0 genome.wustl.edu 37 20 17339055 17339055 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 20 17339055 17339055 C T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known silent c.366 p.N122 0.987 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 71 0 0.00 35 7 16.67 72 0 0.00 87 20 18.69 SIGLEC5 0 genome.wustl.edu 37 19 52130427 52130427 + Missense_Mutation SNP A A T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 52130427 52130427 A T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1357 p.C453S 0.004 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 43 0 0.00 22 22 50.00 86 0 0.00 47 29 38.16 ANKRD26 0 genome.wustl.edu 37 10 27335425 27335425 + Missense_Mutation SNP T T A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 10 27335425 27335425 T A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.1890 p.E630D 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 49 0 0.00 55 5 8.33 118 0 0.00 77 19 19.79 MAP3K4 0 genome.wustl.edu 37 6 161470949 161470949 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 6 161470949 161470949 C T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known silent c.1645 p.L549 1.000 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 MAP3K4 HGNC ENSG00000085511 tier1 - - 40 0 0.00 23 20 46.51 114 0 0.00 60 66 52.38 GEMIN5 0 genome.wustl.edu 37 5 154287187 154287187 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 154287187 154287187 G A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2359 p.R787W 0.054 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 tier1 rs200476714 GMAF=0.0005 56 0 0.00 43 26 37.68 88 0 0.00 50 37 42.53 GLRA1 0 genome.wustl.edu 37 5 151231024 151231024 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 151231024 151231024 C T SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.839 p.R280H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 tier1 - - 61 0 0.00 39 24 38.10 50 0 0.00 38 24 38.71 TNS3 0 genome.wustl.edu 37 7 47454731 47454731 + Missense_Mutation SNP C C G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 7 47454731 47454731 C G SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.547 p.V183L 0.971 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,smart_Tyr_Pase_cat,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 tier1 - - 61 0 0.00 57 10 14.93 116 0 0.00 123 22 15.07 NFKB1 0 genome.wustl.edu 37 4 103500090 103500090 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 103500090 103500090 G A SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.624 p.M208I 1.000 pfam_RHD,superfamily_p53-like_TF_D-bd,pfscan_RHD pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_D-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 tier1 - - 50 0 0.00 43 21 32.81 89 0 0.00 82 21 20.39 MRGPRF 0 genome.wustl.edu 37 11 68773521 68773521 + Missense_Mutation SNP G G C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 68773521 68773521 G C SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.257 p.A86G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 - - 47 0 0.00 36 21 36.84 77 0 0.00 70 24 25.53 ZNF663P 0 genome.wustl.edu 37 20 45084777 45084777 + R SNP A A G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 20 45084777 45084777 A G SNP ZNF663P ENST00000400371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF663P HGNC ENSG00000215452 tier1 - - 59 0 0.00 75 24 24.24 69 0 0.00 143 30 17.34 LCT 0 genome.wustl.edu 37 2 136575391 136575391 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 136575391 136575391 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.1227 p.S409R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 64 0 0.00 39 29 42.65 46 0 0.00 45 29 39.19 ADAM28 0 genome.wustl.edu 37 8 24170916 24170916 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 8 24170916 24170916 G T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.399 p.Q133H 0.367 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 - - 60 0 0.00 56 15 21.13 120 0 0.00 106 19 15.08 CRYAA 0 genome.wustl.edu 37 21 44590745 44590745 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 21 44590745 44590745 G A SNP CRYAA ENST00000291554 human ensembl 74_37 +1 known missense c.308 p.R103H 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 tier1 - - 55 0 0.00 42 14 25.00 56 0 0.00 31 8 20.51 MMRN1 0 genome.wustl.edu 37 4 90857734 90857734 + Missense_Mutation SNP A A T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 90857734 90857734 A T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.2903 p.E968V 0.148 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 41 0 0.00 26 37 58.73 145 0 0.00 85 65 43.33 TCHH 0 genome.wustl.edu 37 1 152084915 152084915 + Silent SNP A A G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 1 152084915 152084915 A G SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.778 p.L260 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 31 0 0.00 27 36 57.14 48 0 0.00 31 17 35.42 FBN2 0 genome.wustl.edu 37 5 127681117 127681117 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 127681117 127681117 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.3149 p.T1050M 0.006 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 rs150506063 - 61 0 0.00 35 29 45.31 52 0 0.00 34 26 43.33 ADAMTS3 0 genome.wustl.edu 37 4 73414431 73414431 + Missense_Mutation SNP C C A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 73414431 73414431 C A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.268 p.D90Y 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 51 0 0.00 28 12 30.00 100 0 0.00 65 13 16.67 PTK2B 0 genome.wustl.edu 37 8 27288893 27288893 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 8 27288893 27288893 G T SNP PTK2B ENST00000397497 human ensembl 74_37 +1 putative missense c.27 p.Q9H 0.000 pfscan_FERM_domain 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_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 67 0 0.00 47 38 44.71 115 0 0.00 84 71 45.81 NEB 0 genome.wustl.edu 37 2 152582033 152582033 + Silent SNP T T G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 152582033 152582033 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.336 p.P112 0.848 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 - - 74 0 0.00 46 35 43.21 120 0 0.00 75 50 40.00 PYHIN1 0 genome.wustl.edu 37 1 158906932 158906932 + Missense_Mutation SNP C C A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 1 158906932 158906932 C A SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.232 p.L78I 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 tier1 - - 43 0 0.00 54 8 12.90 51 0 0.00 97 23 19.17 LOXHD1 0 genome.wustl.edu 37 18 44057439 44057439 + Missense_Mutation SNP A A G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 18 44057439 44057439 A G SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.6632 p.V2211A 0.986 NULL pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 82 0 0.00 23 33 58.93 55 0 0.00 21 22 51.16 CABYR 0 genome.wustl.edu 37 18 21739532 21739532 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 18 21739532 21739532 C T SNP CABYR ENST00000399496 human ensembl 74_37 +1 known missense c.638 p.P213L 1.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 tier1 rs143686609 - 58 0 0.00 3 33 91.67 49 0 0.00 12 21 63.64 MYLK 0 genome.wustl.edu 37 3 123457851 123457851 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 3 123457851 123457851 G T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.481 p.P161T 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 - - 58 0 0.00 62 26 29.55 120 0 0.00 93 43 31.39 OR4D1 0 genome.wustl.edu 37 17 56232674 56232674 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 17 56232674 56232674 C T SNP OR4D1 ENST00000268912 human ensembl 74_37 +1 known missense c.160 p.R54W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D1 HGNC ENSG00000141194 tier1 - - 78 0 0.00 80 20 20.00 84 0 0.00 78 20 20.41 KIAA0922 0 genome.wustl.edu 37 4 154547353 154547353 + Missense_Mutation SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 154547353 154547353 T C SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.4100 p.L1367P 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 tier1 - - 55 0 0.00 27 24 47.06 101 0 0.00 61 38 38.38 KSR2 0 genome.wustl.edu 37 12 118198926 118198926 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 12 118198926 118198926 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.876 p.P292 0.297 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 83 0 0.00 82 15 15.46 36 0 0.00 33 7 17.50 MYLK 0 genome.wustl.edu 37 3 123457850 123457850 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 3 123457850 123457850 G T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.482 p.P161Q 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 - - 60 0 0.00 59 27 31.03 121 0 0.00 93 45 32.61 NR6A1 0 genome.wustl.edu 37 9 127316690 127316690 + Missense_Mutation SNP T T A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 9 127316690 127316690 T A SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.302 p.N101I 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 tier1 - - 25 0 0.00 38 6 13.64 99 0 0.00 101 20 16.53 SEL1L3 0 genome.wustl.edu 37 4 25783928 25783928 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 25783928 25783928 G A SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.2393 p.A798V 0.996 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 58 0 0.00 52 19 26.76 88 0 0.00 49 24 32.88 DLEC1 0 genome.wustl.edu 37 3 38135096 38135096 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 3 38135096 38135096 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.1757 p.G586V 0.999 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 53 0 0.00 46 13 22.03 95 0 0.00 77 9 10.34 CAND1 0 genome.wustl.edu 37 12 67663558 67663558 + Missense_Mutation SNP G G C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 12 67663558 67663558 G C SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.61 p.D21H 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 tier1 - - 21 0 0.00 23 7 23.33 30 0 0.00 35 16 30.77 NBEAL1 0 genome.wustl.edu 37 2 203977921 203977921 + Missense_Mutation SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 203977921 203977921 T C SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.2299 p.S767P 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 53 0 0.00 36 9 20.00 104 0 0.00 33 19 36.54 OR8B4 0 genome.wustl.edu 37 11 124294278 124294278 + Nonsense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 124294278 124294278 G A SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known nonsense c.490 p.R164* 0.747 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 tier1 - - 16 0 0.00 7 15 68.18 52 0 0.00 15 58 79.45 ARSE 0 genome.wustl.edu 37 X 2876419 2876419 + Silent SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 X 2876419 2876419 T C SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.156 p.P52 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 tier1 - - 12 0 0.00 31 11 26.19 44 0 0.00 38 21 35.59 MUC16 0 genome.wustl.edu 37 19 9047336 9047336 + Missense_Mutation SNP G G C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 9047336 9047336 G C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34295 p.T11432R 0.026 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 48 0 0.00 68 7 9.33 81 0 0.00 66 14 17.50 ARID1A 0 genome.wustl.edu 37 1 27023189 27023189 + Missense_Mutation SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 1 27023189 27023189 G T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.295 p.D99Y 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 8 0 0.00 5 10 66.67 25 0 0.00 31 13 29.55 KIAA1407 0 genome.wustl.edu 37 3 113729865 113729865 + Frame_Shift_Del DEL T T - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 3 113729865 113729865 T - DEL KIAA1407 ENST00000295878 human ensembl 74_37 -1 known frame_shift_del c.1167 p.K389fs 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 26 0 0.00 32 8 20.00 118 0 0.00 166 33 16.58 TP53 0 genome.wustl.edu 37 17 7577514 7577515 + Frame_Shift_Ins INS - - TA TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 - - - TA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 17 7577514 7577515 - TA INS TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_ins c.767_766 p.T256fs 0.998:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 50 0 0.00 14 38 73.08 87 0 0.00 14 57 80.28 SCUBE2 0 genome.wustl.edu 37 11 9101004 9101007 + Frame_Shift_Del DEL CAAA CAAA - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 CAAA CAAA CAAA - CAAA CAAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 9101004 9101007 CAAA - DEL SCUBE2 ENST00000457346 human ensembl 74_37 -1 known frame_shift_del c.309_306 p.C102fs 1.000:1.000:1.000:1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 38 0 0.00 34 13 27.66 115 0 0.00 41 38 48.10 RBM28 0 genome.wustl.edu 37 7 127950921 127950921 + Frame_Shift_Del DEL A A - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 7 127950921 127950921 A - DEL RBM28 ENST00000223073 human ensembl 74_37 -1 known frame_shift_del c.2209 p.Y737fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 tier1 54 0 0.00 49 8 14.04 122 0 0.00 76 23 23.23 LOC100132215 0 genome.wustl.edu 37 2 63273759 63273760 + R INS - - T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 63273759 63273760 - T INS LOC100132215 ENST00000413549 human ensembl 74_37 -1 known rna NULL NULL 0.091:0.111 - - - no_errors AC009501.4 Clone_based_vega_gene ENSG00000231609 tier1 17 0 0.00 2 7 77.78 106 0 0.00 15 62 80.52 ENSG00000267040 0 genome.wustl.edu 37 18 55335786 55335787 + R INS - - AAAAA TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 - - - AAAAA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 18 55335786 55335787 - AAAAA INS ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.794:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 tier1 13 0 0.00 11 3 21.43 13 0 0.00 11 3 21.43 ATRX 0 genome.wustl.edu 37 X 76937049 76937053 + Frame_Shift_Del DEL TAAAT TAAAT - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 TAAAT TAAAT TAAAT - TAAAT TAAAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 X 76937049 76937053 TAAAT - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.3699_3695 p.N1232fs 1.000:1.000:0.995:0.993:0.994 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 35 0 0.00 9 42 82.35 35 0 0.00 9 42 82.35 ENSG00000249034 0 genome.wustl.edu 37 5 140242769 140242769 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 5 140242769 140242769 C T SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known silent c.207 p.T69 0.024 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 tier1 - - 41 0 0.00 42 11 20.75 5 0 0.00 1 2 66.67 FAM132B 0 genome.wustl.edu 37 2 239071412 239071412 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 239071412 239071412 C T SNP FAM132B ENST00000546354 human ensembl 74_37 +1 putative silent c.357 p.P119 0.632 NULL superfamily_Tumour_necrosis_fac-like_dom - no_errors FAM132B HGNC ENSG00000178752 tier1 - - 70 0 0.00 21 30 58.82 34 0 0.00 6 21 77.78 MYH8 0 genome.wustl.edu 37 17 10309387 10309387 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 17 10309387 10309387 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.2403 p.R801 0.998 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 60 0 0.00 11 52 82.54 103 0 0.00 9 112 92.56 PAGE5 0 genome.wustl.edu 37 X 55248256 55248256 + Silent SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 X 55248256 55248256 G A SNP PAGE5 ENST00000289619 human ensembl 74_37 +1 known silent c.198 p.Q66 0.001 pfam_GAGE pfam_GAGE - no_errors PAGE5 HGNC ENSG00000158639 tier1 - - 45 0 0.00 2 61 96.83 21 0 0.00 1 11 91.67 USP27X 0 genome.wustl.edu 37 X 49645301 49645301 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 X 49645301 49645301 C T SNP USP27X ENST00000508866 human ensembl 74_37 +1 known missense c.391 p.R131W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP27X HGNC ENSG00000242013 tier1 - - 26 0 0.00 29 4 12.12 56 0 0.00 67 6 8.22 CLSTN2 0 genome.wustl.edu 37 3 140281713 140281713 + Missense_Mutation SNP G G A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 3 140281713 140281713 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2273 p.R758H 0.001 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 48 0 0.00 45 11 19.64 55 0 0.00 80 5 5.88 SLIT2 0 genome.wustl.edu 37 4 20620477 20620477 + Missense_Mutation SNP C C G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 4 20620477 20620477 C G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4435 p.R1479G 0.962 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 61 0 0.00 64 16 20.00 79 0 0.00 93 10 9.71 NR2C1 0 genome.wustl.edu 37 12 95422248 95422248 + Silent SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 12 95422248 95422248 T C SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known silent c.1446 p.L482 0.890 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 tier1 - - 81 0 0.00 82 18 18.00 81 0 0.00 77 7 8.33 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624955 5624955 + Missense_Mutation SNP A A T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 5624955 5624955 A T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.497 p.Q166L 0.468 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 51 0 0.00 80 8 9.09 99 0 0.00 100 6 5.61 DCDC1 0 genome.wustl.edu 37 11 31086639 31086639 + Missense_Mutation SNP T T G TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 31086639 31086639 T G SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2360 p.Q787P 1.000 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 51 0 0.00 53 5 8.62 89 0 0.00 77 8 9.41 AKAP9 0 genome.wustl.edu 37 7 91714967 91714986 + Frame_Shift_Del DEL AATTACAAAGATGCAACTGC AATTACAAAGATGCAACTGC - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 AATTACAAAGATGCAACTGC AATTACAAAGATGCAACTGC AATTACAAAGATGCAACTGC - AATTACAAAGATGCAACTGC AATTACAAAGATGCAACTGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 7 91714967 91714986 AATTACAAAGATGCAACTGC - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.9003_9022 p.I3002fs 0.986:1.000:1.000:1.000:0.982:0.998:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.970:0.905:0.944:0.964:0.996 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 80 0 0.00 73 4 5.19 80 0 0.00 73 4 5.19 AKAP9 0 genome.wustl.edu 37 7 91714957 91714957 + Frame_Shift_Del DEL T T - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 7 91714957 91714957 T - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.8993 p.L2998fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 30 0 0.00 42 7 14.29 79 0 0.00 76 4 5.00 ZNF569 0 genome.wustl.edu 37 19 37905235 37905235 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 37905235 37905235 C T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.325 p.E109K 0.048 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 ZNF569 HGNC ENSG00000196437 tier1 - - 34 0 0.00 52 7 11.86 132 2 1.49 254 14 5.20 CNTP4 0 genome.wustl.edu 37 16 76482698 76482698 + Silent SNP C C A TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 16 76482698 76482698 C A SNP CNTP4 ENST00000307431 human ensembl 74_37 +1 known silent c.774 p.V258 0.939 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP4 HGNC ENSG00000152910 tier1 - - 51 0 0.00 5 26 83.87 104 2 1.89 8 69 88.46 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + R DEL G G - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 45 0 0.00 47 8 14.55 5 0 0.00 0 0 0.00 GDF10 0 genome.wustl.edu 37 10 48438537 48438537 + Silent SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 10 48438537 48438537 C T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.174 p.R58 0.030 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 tier1 rs45620039 - 41 0 0.00 44 4 8.33 6 0 0.00 9 0 0.00 CAC1A 0 genome.wustl.edu 37 19 13318673 13318678 + In_Frame_Del DEL CTGCTG CTGCTG - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 CTGCTG CTGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 19 13318673 13318678 CTGCTG - DEL CAC1A ENST00000360228 human ensembl 74_37 -1 known in_frame_del c.6975_6970 p.QQ2324in_frame_del 0.259:0.316:0.374:0.432:0.459:0.497 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 CCDC40 0 genome.wustl.edu 37 17 78039342 78039342 + Missense_Mutation SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 17 78039342 78039342 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1499 p.A500V 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 45 0 0.00 41 4 8.89 4 0 0.00 4 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102294368 102294368 + R SNP A A T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 15 102294368 102294368 A T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs144412148 - 13 0 0.00 8 7 46.67 0 0 0.00 0 0 0.00 ENSG00000221395 0 genome.wustl.edu 37 16 82875745 82875750 + R DEL ACATAT ACATAT - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 ACATAT ACATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 16 82875745 82875750 ACATAT - DEL ENSG00000221395 ENST00000408468 human ensembl 74_37 +1 novel rna NULL NULL 0.003:0.002:0.004:0.004:0.003:0.003 - - - no_errors AC099506.1 Clone_based_ensembl_gene ENSG00000221395 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000266885 0 genome.wustl.edu 37 17 21934924 21934924 + R SNP C C T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 17 21934924 21934924 C T SNP ENSG00000266885 ENST00000582527 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-744K17.2 Clone_based_vega_gene ENSG00000266885 tier1 - - 17 0 0.00 3 9 75.00 0 0 0.00 0 0 0.00 HRCT1 0 genome.wustl.edu 37 9 35906595 35906596 + In_Frame_Ins INS - - CCACCC TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 9 35906595 35906596 - CCACCC INS HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_ins c.311_312 p.108in_frame_insPH 0.012:0.005 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 LHCGR 0 genome.wustl.edu 37 2 48982775 48982777 + In_Frame_Del DEL CTT CTT - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 2 48982775 48982777 CTT - DEL LHCGR ENST00000294954 human ensembl 74_37 -1 known in_frame_del c.36_34 p.K12in_frame_del 0.000:0.000:0.000 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 25 0 0.00 27 5 15.62 1 0 0.00 0 0 0.00 PTPN5 0 genome.wustl.edu 37 11 18751262 18751262 + Missense_Mutation SNP A A C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 11 18751262 18751262 A C SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.1433 p.V478G 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 tier1 - - 68 0 0.00 61 10 14.08 3 0 0.00 1 0 0.00 TUBBP5 0 genome.wustl.edu 37 9 141071190 141071190 + R SNP T T C TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 9 141071190 141071190 T C SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 - - 75 0 0.00 41 8 16.33 4 0 0.00 0 0 0.00 TMEM191C 0 genome.wustl.edu 37 22 21822373 21822385 + R DEL AGGATCCGGGGGT AGGATCCGGGGGT - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 AGGATCCGGGGGT AGGATCCGGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 22 21822373 21822385 AGGATCCGGGGGT - DEL TMEM191C ENST00000449424 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.005:0.001:0.001:0.002:0.003:0.000:0.000:0.000:0.057:0.077:0.000:0.000 - - - no_errors TMEM191C HGNC ENSG00000206140 tier1 0 0 0.00 0 19 100.00 0 0 0.00 0 19 100.00 UBR4 0 genome.wustl.edu 37 1 19511667 19511667 + Silent SNP G G T TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 1 19511667 19511667 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.1864 p.R622 0.990 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 53 0 0.00 78 9 10.34 110 0 0.00 112 2 1.75 MYCBP2 0 genome.wustl.edu 37 13 77629706 77629730 + Frame_Shift_Del DEL TAGCACACATAATATGCATATCTAT TAGCACACATAATATGCATATCTAT - TCGA-DX-A8BU-01A-11D-A37C-09 TCGA-DX-A8BU-10A-01D-A37F-09 TAGCACACATAATATGCATATCTAT TAGCACACATAATATGCATATCTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 330b9068-ca47-4592-88e4-6c469c5cd907 6251e219-3da3-43e1-aba3-1ab654ae4151 13 77629706 77629730 TAGCACACATAATATGCATATCTAT - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.13634_13610 p.N4537fs 1.000:1.000:1.000:1.000:1.000:0.972:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:0.998:0.947:1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 62 0 0.00 79 3 3.66 62 0 0.00 79 3 3.66