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 ADCY9 0 genome.wustl.edu 37 16 4042196 4042196 + Missense_Mutation SNP T T G TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 16 4042196 4042196 T G SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known missense c.2158 p.I720L 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 67 0 0.00 61 19 23.75 - - - ANKRD33 0 genome.wustl.edu 37 12 52284892 52284892 + Missense_Mutation SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 12 52284892 52284892 C A SNP ANKRD33 ENST00000301190 human ensembl 69_37n +1 novel missense c.1162 p.Q388K 0.036 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33 HGNC ENSG00000167612 39 0 0.00 42 11 20.75 - - - ARHGEF26 0 genome.wustl.edu 37 3 153972529 153972529 + Missense_Mutation SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 3 153972529 153972529 G A SNP ARHGEF26 ENST00000356448 human ensembl 69_37n +1 known missense c.2389 p.V797I 0.781 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 101 0 0.00 71 32 30.77 - - - BRWD1 0 genome.wustl.edu 37 21 40571242 40571242 + Silent SNP T T C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 21 40571242 40571242 T C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known silent c.5100 p.L1700 0.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 54 0 0.00 68 27 28.42 - - - CD200R1L 0 genome.wustl.edu 37 3 112546236 112546236 + Silent SNP A A G TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 3 112546236 112546236 A G SNP CD200R1L ENST00000398214 human ensembl 69_37n -1 known silent c.408 p.R136 0.000 pfscan_Ig-like pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC ENSG00000206531 134 0 0.00 128 24 15.79 - - - DMD 0 genome.wustl.edu 37 X 32459415 32459415 + Nonsense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b X 32459415 32459415 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known nonsense c.3803 p.W1268* 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 91 0 0.00 44 21 32.31 - - - ENC1 0 genome.wustl.edu 37 5 73931216 73931216 + Silent SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 5 73931216 73931216 G A SNP ENC1 ENST00000302351 human ensembl 69_37n -1 known silent c.1095 p.H365 0.654 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 ENC1 HGNC ENSG00000171617 30 0 0.00 17 13 43.33 - - - ENC1 0 genome.wustl.edu 37 5 73931919 73931919 + Missense_Mutation SNP T T A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 5 73931919 73931919 T A SNP ENC1 ENST00000302351 human ensembl 69_37n -1 known missense c.392 p.D131V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 ENC1 HGNC ENSG00000171617 49 0 0.00 41 22 34.92 - - - FZD2 0 genome.wustl.edu 37 17 42636438 42636438 + Missense_Mutation SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 17 42636438 42636438 G A SNP FZD2 ENST00000315323 human ensembl 69_37n +1 known missense c.1382 p.R461H 1.000 pfam_Frizzled,prints_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like - no_errors FZD2 HGNC ENSG00000180340 37 0 0.00 20 24 54.55 - - - GNAS 0 genome.wustl.edu 37 20 57430146 57430147 + Frame_Shift_Ins INS - - C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 20 57430146 57430147 - C INS GNAS ENST00000371100 human ensembl 69_37n +1 putative frame_shift_ins c.1826_1827 p.N610fs 0.976:0.985 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 39 0 0.00 37 20 35.09 - - - GOLGA8A 0 genome.wustl.edu 37 15 34673973 34673973 + Missense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 15 34673973 34673973 C T SNP GOLGA8A ENST00000432566 human ensembl 69_37n -1 known missense c.1628 p.R543Q 0.998 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 14 0 0.00 5 3 37.50 - - - GRID1 0 genome.wustl.edu 37 10 87407363 87407363 + RNA SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 10 87407363 87407363 C T SNP GRID1 ENST00000474115 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GRID1 HGNC ENSG00000182771 8 0 0.00 2 5 71.43 - - - GRM6 0 genome.wustl.edu 37 5 178416347 178416347 + Missense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 5 178416347 178416347 C T SNP GRM6 ENST00000231188 human ensembl 69_37n -1 known missense c.1072 p.A358T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM6 HGNC ENSG00000113262 60 0 0.00 62 29 31.87 - - - HDAC6 0 genome.wustl.edu 37 X 48682594 48682594 + Missense_Mutation SNP A A G TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b X 48682594 48682594 A G SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.3511 p.I1171V 0.002 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 121 0 0.00 48 39 44.83 - - - IL18 0 genome.wustl.edu 37 11 112020809 112020809 + Missense_Mutation SNP T T A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 11 112020809 112020809 T A SNP IL18 ENST00000280357 human ensembl 69_37n -1 known missense c.212 p.D71V 0.160 superfamily_Cytokine_IL1-like,pirsf_Interleukin_18 pfam_Interleukin_1,superfamily_Cytokine_IL1-like,pirsf_Interleukin_18,prints_Interleukin_18 - no_errors IL18 HGNC ENSG00000150782 103 0 0.00 34 38 52.78 - - - IL18BP 0 genome.wustl.edu 37 11 71712520 71712520 + Silent SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 11 71712520 71712520 G A SNP IL18BP ENST00000260049 human ensembl 69_37n +1 known silent c.429 p.L143 0.235 pfscan_Ig-like pfscan_Ig-like - no_errors IL18BP HGNC ENSG00000137496 43 0 0.00 13 19 59.38 - - - KANSL3 0 genome.wustl.edu 37 2 97276810 97276810 + Silent SNP G G C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 2 97276810 97276810 G C SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known silent c.1152 p.G384 0.779 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 59 0 0.00 60 13 17.57 - - - MBD3 0 genome.wustl.edu 37 19 1585126 1585126 + Silent SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 19 1585126 1585126 C T SNP MBD3 ENST00000156825 human ensembl 69_37n -1 known silent c.198 p.T66 0.420 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 80 0 0.00 16 17 51.52 - - - MCM10 0 genome.wustl.edu 37 10 13222513 13222513 + Missense_Mutation SNP T T A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 10 13222513 13222513 T A SNP MCM10 ENST00000361282 human ensembl 69_37n +1 known missense c.839 p.I280N 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 137 0 0.00 100 37 27.01 - - - MFHAS1 0 genome.wustl.edu 37 8 8747876 8747876 + Missense_Mutation SNP T T C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 8 8747876 8747876 T C SNP MFHAS1 ENST00000276282 human ensembl 69_37n -1 known missense c.2693 p.Y898C 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 57 0 0.00 44 5 10.00 - - - MLL2 0 genome.wustl.edu 37 12 49445333 49445333 + Silent SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 12 49445333 49445333 C T SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.2133 p.P711 0.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 56 0 0.00 29 14 31.82 - - - MMEL1 0 genome.wustl.edu 37 1 2560819 2560821 + In_Frame_Del DEL CAG CAG - TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 1 2560819 2560821 CAG - DEL MMEL1 ENST00000378412 human ensembl 69_37n -1 known in_frame_del c.105_103 p.L35in_frame_del 0.932:0.974:0.981 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 22 0 0.00 4 2 33.33 - - - MTERFD1 0 genome.wustl.edu 37 8 97258550 97258550 + Silent SNP T T C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 8 97258550 97258550 T C SNP MTERFD1 ENST00000287025 human ensembl 69_37n -1 known silent c.810 p.E270 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 103 0 0.00 143 43 22.99 - - - MYH6 0 genome.wustl.edu 37 14 23855313 23855313 + Missense_Mutation SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 14 23855313 23855313 C A SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.4987 p.V1663F 0.024 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 116 0 0.00 85 26 23.42 - - - NDUFA9 0 genome.wustl.edu 37 12 4796146 4796146 + Missense_Mutation SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 12 4796146 4796146 G A SNP NDUFA9 ENST00000266544 human ensembl 69_37n +1 known missense c.1006 p.E336K 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 84 0 0.00 82 56 40.58 - - - NLRP2 0 genome.wustl.edu 37 19 55489137 55489137 + Nonsense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 19 55489137 55489137 C T SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known nonsense c.343 p.R115* 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 69 0 0.00 49 28 36.36 - - - PIKFYVE 0 genome.wustl.edu 37 2 209136284 209136284 + Missense_Mutation SNP C C G TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 2 209136284 209136284 C G SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known missense c.41 p.A14G 0.991 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 176 0 0.00 125 69 35.57 - - - PIWIL3 0 genome.wustl.edu 37 22 25124287 25124287 + Missense_Mutation SNP A A T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 22 25124287 25124287 A T SNP PIWIL3 ENST00000332271 human ensembl 69_37n -1 known missense c.1789 p.Y597N 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 133 0 0.00 154 69 30.94 - - - PLEKHF2 0 genome.wustl.edu 37 8 96166631 96166631 + Missense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 8 96166631 96166631 C T SNP PLEKHF2 ENST00000315367 human ensembl 69_37n +1 known missense c.359 p.S120L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 54 0 0.00 49 61 55.45 - - - PORCN 0 genome.wustl.edu 37 X 48368217 48368217 + Silent SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b X 48368217 48368217 C A SNP PORCN ENST00000326194 human ensembl 69_37n +1 known silent c.9 p.T3 1.000 NULL pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 55 0 0.00 34 10 22.73 - - - PPARA 0 genome.wustl.edu 37 22 46627967 46627967 + Missense_Mutation SNP G G T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 22 46627967 46627967 G T SNP PPARA ENST00000262735 human ensembl 69_37n +1 known missense c.990 p.M330I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 101 0 0.00 93 47 33.57 - - - SCRT2 0 genome.wustl.edu 37 20 656217 656217 + Missense_Mutation SNP A A T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 20 656217 656217 A T SNP SCRT2 ENST00000246104 human ensembl 69_37n -1 known missense c.29 p.I10N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT2 HGNC ENSG00000215397 11 0 0.00 3 6 66.67 - - - SLC4A11 0 genome.wustl.edu 37 20 3209652 3209652 + Missense_Mutation SNP A A C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 20 3209652 3209652 A C SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.2153 p.V718G 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 57 0 0.00 37 11 22.45 - - - SSBP2 0 genome.wustl.edu 37 5 81046829 81046829 + Silent SNP G G C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 5 81046829 81046829 G C SNP SSBP2 ENST00000320672 human ensembl 69_37n -1 known silent c.33 p.A11 1.000 prints_SSDP_DNA-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 68 0 0.00 47 18 27.27 - - - TLE1 0 genome.wustl.edu 37 9 84202743 84202743 + Missense_Mutation SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 9 84202743 84202743 C A SNP TLE1 ENST00000376499 human ensembl 69_37n -1 known missense c.1830 p.R610S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 55 0 0.00 33 37 52.86 - - - TRPM6 0 genome.wustl.edu 37 9 77339648 77339648 + Missense_Mutation SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 9 77339648 77339648 C T SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.5962 p.D1988N 1.000 superfamily_Kinase-like_dom pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 126 0 0.00 82 21 20.19 - - - UGT2A1 0 genome.wustl.edu 37 4 70460341 70460341 + Silent SNP G G C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 4 70460341 70460341 G C SNP UGT2A1 ENST00000457664 human ensembl 69_37n -1 known silent c.1185 p.V395 0.981 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A1 HGNC ENSG00000173610 112 0 0.00 109 56 33.94 - - - USH1G 0 genome.wustl.edu 37 17 72916430 72916430 + Silent SNP G G A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 17 72916430 72916430 G A SNP USH1G ENST00000319642 human ensembl 69_37n -1 known silent c.501 p.R167 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 33 0 0.00 18 8 30.77 - - - XPO6 0 genome.wustl.edu 37 16 28177893 28177893 + Silent SNP A A C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 16 28177893 28177893 A C SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known silent c.579 p.T193 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 75 0 0.00 39 39 50.00 - - - ZFPM2 0 genome.wustl.edu 37 8 106815010 106815010 + Silent SNP C C T TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 8 106815010 106815010 C T SNP ZFPM2 ENST00000407775 human ensembl 69_37n +1 known silent c.2700 p.S900 0.537 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 54 0 0.00 74 17 18.48 - - - ZNF445 0 genome.wustl.edu 37 3 44488743 44488743 + Missense_Mutation SNP C C A TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 3 44488743 44488743 C A SNP ZNF445 ENST00000396077 human ensembl 69_37n -1 known missense c.2420 p.R807L 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 79 0 0.00 43 32 42.67 - - - ZNF721 0 genome.wustl.edu 37 4 436212 436212 + Missense_Mutation SNP T T C TCGA-AO-A1KT-01A-11D-A13L-09 TCGA-AO-A1KT-10A-01D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97b33dc3-6a62-419a-aa6c-cb84c9f92102 f5386f22-b79a-48ba-b98d-8110ae94009b 4 436212 436212 T C SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known missense c.2044 p.I682V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 185 0 0.00 144 61 29.61 - - -