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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2M 0 genome.wustl.edu 37 12 9256962 9256962 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 12 9256962 9256962 G T SNP A2M ENST00000318602 human ensembl 69_37n -1 known missense c.1139 p.P380Q 0.957 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 234 0 0.00 197 49 19.84 - - - AIM1 0 genome.wustl.edu 37 6 107016426 107016426 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 6 107016426 107016426 G A SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.5157 p.M1719I 1.000 pfscan_Ricin_B_lectin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 115 0 0.00 92 17 15.60 - - - ANKRD30B 0 genome.wustl.edu 37 18 14763786 14763786 + Missense_Mutation SNP C C G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 18 14763786 14763786 C G SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.922 p.R308G 0.012 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 44 0 0.00 84 13 13.40 - - - B3GALT2 0 genome.wustl.edu 37 1 193150454 193150454 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 193150454 193150454 C T SNP B3GALT2 ENST00000367434 human ensembl 69_37n -1 known missense c.239 p.R80Q 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 156 1 0.64 145 39 21.08 - - - C17orf77 0 genome.wustl.edu 37 17 72588188 72588188 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 17 72588188 72588188 G T SNP C17orf77 ENST00000328023 human ensembl 69_37n +1 known missense c.3 p.M1I 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 110 0 0.00 53 12 18.46 - - - CATSPER4 0 genome.wustl.edu 37 1 26527420 26527420 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 26527420 26527420 G A SNP CATSPER4 ENST00000456354 human ensembl 69_37n +1 known missense c.1087 p.G363R 0.003 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 127 0 0.00 79 15 15.96 - - - CCDC84 0 genome.wustl.edu 37 11 118869807 118869807 + Missense_Mutation SNP A A G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 118869807 118869807 A G SNP CCDC84 ENST00000334418 human ensembl 69_37n +1 known missense c.371 p.Q124R 0.789 NULL NULL - no_errors CCDC84 HGNC ENSG00000186166 264 1 0.38 167 35 17.33 - - - CD2BP2 0 genome.wustl.edu 37 16 30365584 30365585 + Frame_Shift_Del DEL AG AG - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 16 30365584 30365585 AG - DEL CD2BP2 ENST00000305596 human ensembl 69_37n -1 known frame_shift_del c.138_137 p.S46fs 0.998:1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 156 0 0.00 137 21 13.29 - - - CD97 0 genome.wustl.edu 37 19 14508712 14508712 + Frame_Shift_Del DEL T T - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 14508712 14508712 T - DEL CD97 ENST00000242786 human ensembl 69_37n +1 known frame_shift_del c.784 p.S262fs 0.011 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 27 0 0.00 16 10 38.46 - - - CDC42BPB 0 genome.wustl.edu 37 14 103416191 103416191 + Nonsense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 14 103416191 103416191 G T SNP CDC42BPB ENST00000559043 human ensembl 69_37n -1 novel nonsense c.1103 p.S368* 0.890 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Citron,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDC42BPB HGNC ENSG00000198752 13 0 0.00 2 4 66.67 - - - CEACAM6 0 genome.wustl.edu 37 19 42260867 42260867 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 42260867 42260867 C T SNP CEACAM6 ENST00000199764 human ensembl 69_37n +1 known missense c.424 p.P142S 0.100 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM6 HGNC ENSG00000086548 347 1 0.29 165 106 39.11 - - - CERS2 0 genome.wustl.edu 37 1 150939291 150939291 + Silent SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 150939291 150939291 G A SNP CERS2 ENST00000271688 human ensembl 69_37n -1 known silent c.789 p.N263 1.000 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 425 0 0.00 320 388 54.65 - - - CTNND2 0 genome.wustl.edu 37 5 10981909 10981909 + Frame_Shift_Del DEL G G - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 5 10981909 10981909 G - DEL CTNND2 ENST00000304623 human ensembl 69_37n -1 known frame_shift_del c.3393 p.A1132fs 0.985 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 370 0 0.00 289 132 30.99 - - - CTNND2 0 genome.wustl.edu 37 5 11110989 11110991 + In_Frame_Del DEL TTC TTC - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 5 11110989 11110991 TTC - DEL CTNND2 ENST00000304623 human ensembl 69_37n -1 known in_frame_del c.2444_2442 p.K817in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 41 0 0.00 23 3 11.54 - - - CYP2B6 0 genome.wustl.edu 37 19 41518287 41518287 + Missense_Mutation SNP A A G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 41518287 41518287 A G SNP CYP2B6 ENST00000324071 human ensembl 69_37n +1 known missense c.1049 p.E350G 0.989 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 458 1 0.22 321 98 23.39 - - - DDB1 0 genome.wustl.edu 37 11 61068352 61068352 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 61068352 61068352 C T SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known missense c.3268 p.D1090N 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 330 0 0.00 140 43 23.50 - - - DENND4C 0 genome.wustl.edu 37 9 19372133 19372133 + Missense_Mutation SNP G G C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 9 19372133 19372133 G C SNP DENND4C ENST00000380437 human ensembl 69_37n +1 known missense c.4984 p.E1662Q 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 202 0 0.00 175 37 17.37 - - - DGKI 0 genome.wustl.edu 37 7 137263039 137263039 + Nonsense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 7 137263039 137263039 G A SNP DGKI ENST00000424189 human ensembl 69_37n -1 known nonsense c.1675 p.R559* 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 48 0 0.00 97 15 13.39 - - - DNAH1 0 genome.wustl.edu 37 3 52386030 52386030 + Frame_Shift_Del DEL C C - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 3 52386030 52386030 C - DEL DNAH1 ENST00000420323 human ensembl 69_37n +1 known frame_shift_del c.2782 p.Q928fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 55 0 0.00 12 2 14.29 - - - DOPEY1 0 genome.wustl.edu 37 6 83845441 83845441 + Nonsense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 6 83845441 83845441 C T SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known nonsense c.2974 p.R992* 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 98 0 0.00 59 51 46.36 - - - FER1L6 0 genome.wustl.edu 37 8 125033835 125033836 + Frame_Shift_Del DEL AA AA - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 8 125033835 125033836 AA - DEL FER1L6 ENST00000399018 human ensembl 69_37n +1 known frame_shift_del c.2059_2060 p.K688fs 1.000:1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 122 0 0.00 120 25 17.24 - - - FLG2 0 genome.wustl.edu 37 1 152323181 152323181 + Missense_Mutation SNP A A G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 152323181 152323181 A G SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.7081 p.Y2361H 0.876 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 194 0 0.00 301 56 15.60 - - - GDPD4 0 genome.wustl.edu 37 11 76990360 76990360 + Silent SNP T T A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 76990360 76990360 T A SNP GDPD4 ENST00000376217 human ensembl 69_37n -1 known silent c.138 p.S46 0.417 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 254 0 0.00 236 132 35.87 - - - GPR32 0 genome.wustl.edu 37 19 51274647 51274647 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 51274647 51274647 G A SNP GPR32 ENST00000270590 human ensembl 69_37n +1 known missense c.790 p.A264T 0.416 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC ENSG00000142511 125 0 0.00 85 43 33.59 - - - HAUS6 0 genome.wustl.edu 37 9 19096764 19096764 + Missense_Mutation SNP G G C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 9 19096764 19096764 G C SNP HAUS6 ENST00000380502 human ensembl 69_37n -1 known missense c.132 p.N44K 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 59 0 0.00 60 15 20.00 - - - IFITM1 0 genome.wustl.edu 37 11 314286 314286 + Frame_Shift_Del DEL G G - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 314286 314286 G - DEL IFITM1 ENST00000328221 human ensembl 69_37n +1 known frame_shift_del c.116 p.W39fs 1.000 pfam_Interferon-induced_TM_protein pfam_Interferon-induced_TM_protein - no_errors IFITM1 HGNC ENSG00000185885 58 0 0.00 15 2 11.76 - - - KCNQ2 0 genome.wustl.edu 37 20 62065225 62065225 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 20 62065225 62065225 G A SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.1055 p.S352L 0.833 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 51 0 0.00 40 5 11.11 - - - KGFLP2 0 genome.wustl.edu 37 9 41962384 41962384 + RNA SNP T T C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 9 41962384 41962384 T C SNP KGFLP2 ENST00000454645 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 17 0 0.00 13 4 23.53 - - - LEKR1 0 genome.wustl.edu 37 3 156742606 156742606 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 3 156742606 156742606 G A SNP LEKR1 ENST00000356539 human ensembl 69_37n +1 known missense c.1261 p.A421T 1.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 118 0 0.00 191 28 12.73 - - - MAMSTR 0 genome.wustl.edu 37 19 49218105 49218106 + Frame_Shift_Ins INS - - G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 49218105 49218106 - G INS MAMSTR ENST00000318083 human ensembl 69_37n -1 known frame_shift_ins c.486_485 p.H163fs 0.043:0.036 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors MAMSTR HGNC ENSG00000176909 61 0 0.00 27 4 12.90 - - - MFSD4 0 genome.wustl.edu 37 1 205549057 205549057 + Missense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 205549057 205549057 G A SNP MFSD4 ENST00000367147 human ensembl 69_37n +1 known missense c.409 p.D137N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 42 0 0.00 12 15 55.56 - - - MT1A 0 genome.wustl.edu 37 16 56673227 56673227 + Missense_Mutation SNP C C G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 16 56673227 56673227 C G SNP MT1A ENST00000290705 human ensembl 69_37n +1 known missense c.80 p.T27S 0.976 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1A HGNC ENSG00000205362 56 0 0.00 25 4 13.79 - - - NOTCH3 0 genome.wustl.edu 37 19 15272363 15272363 + Nonsense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 15272363 15272363 G A SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known nonsense c.6076 p.Q2026* 1.000 pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 47 0 0.00 29 65 69.15 - - - NR1I2 0 genome.wustl.edu 37 3 119531721 119531721 + Silent SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 3 119531721 119531721 C T SNP NR1I2 ENST00000337940 human ensembl 69_37n +1 known silent c.825 p.I275 0.394 superfamily_Nucl_hormone_rcpt_ligand-bd 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 NR1I2 HGNC ENSG00000144852 79 0 0.00 23 10 30.30 - - - ODZ1 0 genome.wustl.edu 37 X 123779072 123779072 + Silent SNP T T A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c X 123779072 123779072 T A SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.1797 p.P599 1.000 pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 182 0 0.00 138 30 17.86 - - - OLFML2B 0 genome.wustl.edu 37 1 161953618 161953618 + Silent SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 161953618 161953618 G A SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known silent c.2100 p.F700 0.992 pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 522 0 0.00 184 291 61.26 - - - OR4A15 0 genome.wustl.edu 37 11 55135638 55135638 + Silent SNP T T C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 55135638 55135638 T C SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known silent c.279 p.S93 0.001 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 122 0 0.00 131 27 17.09 - - - OR7D4 0 genome.wustl.edu 37 19 9324863 9324863 + Silent SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 9324863 9324863 G T SNP OR7D4 ENST00000308682 human ensembl 69_37n -1 known silent c.651 p.S217 0.934 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 123 0 0.00 80 28 25.93 - - - PION 0 genome.wustl.edu 37 7 77006204 77006204 + Silent SNP T T C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 7 77006204 77006204 T C SNP PION ENST00000257626 human ensembl 69_37n -1 known silent c.702 p.K234 1.000 NULL NULL - no_errors PION HGNC ENSG00000186088 103 0 0.00 109 26 19.26 - - - PMS1 0 genome.wustl.edu 37 2 190682855 190682855 + Missense_Mutation SNP G G C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 2 190682855 190682855 G C SNP PMS1 ENST00000441310 human ensembl 69_37n +1 known missense c.531 p.M177I 0.988 superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 94 0 0.00 72 16 18.18 - - - PPP2R4 0 genome.wustl.edu 37 9 131897091 131897091 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 9 131897091 131897091 G T SNP PPP2R4 ENST00000452489 human ensembl 69_37n +1 known missense c.583 p.A195S 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 75 0 0.00 35 7 16.67 - - - PVRL2 0 genome.wustl.edu 37 19 45381598 45381600 + In_Frame_Del DEL GAG GAG - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 45381598 45381600 GAG - DEL PVRL2 ENST00000252485 human ensembl 69_37n +1 known in_frame_del c.1161_1163 p.R391in_frame_del 0.999:1.000:1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 45 0 0.00 17 3 15.00 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037864 10037864 + RNA SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c Y 10037864 10037864 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 13 0 0.00 7 4 36.36 - - - RNF13 0 genome.wustl.edu 37 3 149678699 149678699 + Nonsense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 3 149678699 149678699 C T SNP RNF13 ENST00000468289 human ensembl 69_37n +1 novel nonsense c.358 p.Q120* 0.878 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF13 HGNC ENSG00000082996 126 0 0.00 146 19 11.52 - - - SETD1B 0 genome.wustl.edu 37 12 122242657 122242658 + Frame_Shift_Ins INS - - C TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 12 122242657 122242658 - C INS SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_ins c.14_15 p.H8fs 1.000:1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 30 0 0.00 24 4 14.29 - - - SFRP1 0 genome.wustl.edu 37 8 41166389 41166389 + Nonsense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 8 41166389 41166389 C T SNP SFRP1 ENST00000220772 human ensembl 69_37n -1 known nonsense c.290 p.W97* 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 43 0 0.00 19 4 17.39 - - - SLC12A4 0 genome.wustl.edu 37 16 67980499 67980500 + Frame_Shift_Ins INS - - T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 16 67980499 67980500 - T INS SLC12A4 ENST00000422611 human ensembl 69_37n -1 known frame_shift_ins c.2285_2284 p.G762fs 1.000:1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 11 0 0.00 4 7 63.64 - - - SLC19A2 0 genome.wustl.edu 37 1 169446469 169446469 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 169446469 169446469 G T SNP SLC19A2 ENST00000236137 human ensembl 69_37n -1 known missense c.731 p.S244Y 0.004 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 65 0 0.00 56 23 29.11 - - - SMC1A 0 genome.wustl.edu 37 X 53423505 53423505 + Missense_Mutation SNP C C A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c X 53423505 53423505 C A SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known missense c.2595 p.E865D 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 278 1 0.36 225 47 17.28 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623252 74623252 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 17 74623252 74623252 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known missense c.1069 p.A357T 0.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 33 0 0.00 8 23 74.19 - - - TMC4 0 genome.wustl.edu 37 19 54675769 54675769 + Missense_Mutation SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 19 54675769 54675769 C T SNP TMC4 ENST00000301187 human ensembl 69_37n -1 known missense c.163 p.A55T 0.013 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 126 1 0.79 112 27 19.42 - - - TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 486 0 0.00 159 194 54.96 - - - TRIM9 0 genome.wustl.edu 37 14 51444032 51444032 + Missense_Mutation SNP A A T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 14 51444032 51444032 A T SNP TRIM9 ENST00000298355 human ensembl 69_37n -1 known missense c.2110 p.S704T 1.000 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 226 0 0.00 72 8 10.00 - - - TRPC6 0 genome.wustl.edu 37 11 101344347 101344347 + Silent SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 11 101344347 101344347 G T SNP TRPC6 ENST00000344327 human ensembl 69_37n -1 known silent c.1902 p.I634 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 224 0 0.00 207 57 21.59 - - - TRPC7 0 genome.wustl.edu 37 5 135561796 135561796 + Missense_Mutation SNP T T G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 5 135561796 135561796 T G SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known missense c.2188 p.I730L 1.000 prints_TRPC7_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 109 0 0.00 74 19 20.43 - - - UCK2 0 genome.wustl.edu 37 1 165872483 165872483 + Silent SNP C C T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 1 165872483 165872483 C T SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.564 p.F188 1.000 pfam_PRK/URK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 432 1 0.23 379 63 14.25 - - - VPRBP 0 genome.wustl.edu 37 3 51458151 51458151 + Missense_Mutation SNP G G T TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 3 51458151 51458151 G T SNP VPRBP ENST00000335891 human ensembl 69_37n -1 known missense c.926 p.A309D 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 182 0 0.00 79 18 18.56 - - - XKR9 0 genome.wustl.edu 37 8 71593433 71593433 + Missense_Mutation SNP T T G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 8 71593433 71593433 T G SNP XKR9 ENST00000408926 human ensembl 69_37n +1 known missense c.140 p.F47C 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 241 0 0.00 231 87 27.36 - - - ZC3H15 0 genome.wustl.edu 37 2 187351168 187351170 + In_Frame_Del DEL AGG AGG - TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 2 187351168 187351170 AGG - DEL ZC3H15 ENST00000337859 human ensembl 69_37n +1 known in_frame_del c.59_61 p.E21in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 75 0 0.00 83 10 10.75 - - - ZNF462 0 genome.wustl.edu 37 9 109685755 109685755 + Missense_Mutation SNP C C G TCGA-B6-A0IQ-01A-11W-A050-09 TCGA-B6-A0IQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 583964cf-84ad-4ef1-90d1-2f6bfbeb245a 3f199ef5-ce92-487f-bf42-e16e986dc62c 9 109685755 109685755 C G SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.91 p.L31V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 458 0 0.00 300 50 14.29 - - -