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 PON3 0 genome.wustl.edu 37 7 94992147 94992147 + Silent SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 7 94992147 94992147 G A SNP PON3 ENST00000265627 human ensembl 74_37 -1 known silent c.702 p.V234 1.000 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 tier1 - - 56 0 0.00 52 9 14.75 55 0 0.00 49 19 27.94 DCHS2 0 genome.wustl.edu 37 4 155243560 155243560 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 4 155243560 155243560 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2734 p.P912S 0.780 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 71 0 0.00 38 24 38.71 68 0 0.00 40 21 34.43 USP24 0 genome.wustl.edu 37 1 55567345 55567345 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 1 55567345 55567345 G A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.4577 p.S1526L 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 72 0 0.00 35 30 46.15 100 0 0.00 59 27 30.68 C9orf62 0 genome.wustl.edu 37 9 138235268 138235268 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 9 138235268 138235268 C T SNP C9orf62 ENST00000320778 human ensembl 74_37 +1 putative silent c.24 p.T8 0.000 NULL NULL - no_errors C9orf62 HGNC ENSG00000178243 tier1 - - 19 0 0.00 5 4 44.44 43 0 0.00 12 13 52.00 C12orf42 0 genome.wustl.edu 37 12 103699894 103699894 + Missense_Mutation SNP G G C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 12 103699894 103699894 G C SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.489 p.N163K 0.051 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 tier1 - - 91 0 0.00 63 12 16.00 133 0 0.00 75 15 16.67 ENSG00000233002 0 genome.wustl.edu 37 17 15638587 15638587 + R SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 15638587 15638587 G A SNP ENSG00000233002 ENST00000434017 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233002 tier1 - - 23 0 0.00 31 8 20.51 83 0 0.00 70 12 14.63 ACLY 0 genome.wustl.edu 37 17 40048663 40048663 + Missense_Mutation SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 40048663 40048663 C T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.1639 p.E547K 1.000 pfam_CoA-bd,smart_CoA-bd,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 tier1 - - 33 0 0.00 19 20 51.28 62 0 0.00 24 25 51.02 ZNF831 0 genome.wustl.edu 37 20 57829203 57829203 + Missense_Mutation SNP C C A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 20 57829203 57829203 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4439 p.T1480N 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 28 0 0.00 15 7 31.82 107 0 0.00 45 19 29.69 CNTRL 0 genome.wustl.edu 37 9 123924170 123924170 + Missense_Mutation SNP A A G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 9 123924170 123924170 A G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.5126 p.N1709S 0.995 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 66 0 0.00 59 20 25.32 85 0 0.00 52 35 40.23 OR7G1 0 genome.wustl.edu 37 19 9225933 9225933 + Nonsense_Mutation SNP G G T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 19 9225933 9225933 G T SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known nonsense c.507 p.C169* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 tier1 - - 46 0 0.00 23 17 42.50 133 0 0.00 60 31 34.07 LRP2 0 genome.wustl.edu 37 2 170148813 170148813 + Missense_Mutation SNP A A T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 170148813 170148813 A T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.719 p.V240D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 40 0 0.00 10 22 68.75 111 0 0.00 19 33 63.46 ZRANB3 0 genome.wustl.edu 37 2 136029367 136029367 + Missense_Mutation SNP C C G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 136029367 136029367 C G SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.1177 p.A393P 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 57 0 0.00 18 30 62.50 63 0 0.00 13 14 51.85 ZMYM1 0 genome.wustl.edu 37 1 35580503 35580503 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 1 35580503 35580503 C T SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel silent c.3072 p.I1024 1.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 78 0 0.00 63 36 36.36 78 0 0.00 54 31 36.47 NLRP12 0 genome.wustl.edu 37 19 54327234 54327234 + Silent SNP C C A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 19 54327234 54327234 C A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.195 p.G65 0.034 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 71 0 0.00 39 7 15.22 69 0 0.00 31 12 27.91 HUNK 0 genome.wustl.edu 37 21 33318455 33318455 + Missense_Mutation SNP T T C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 21 33318455 33318455 T C SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.718 p.Y240H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 61 0 0.00 59 24 28.57 84 0 0.00 52 19 26.76 PRAMENP 0 genome.wustl.edu 37 22 22348852 22348852 + R SNP G G T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 22 22348852 22348852 G T SNP PRAMENP ENST00000337471 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PRAMENP HGNC ENSG00000197549 tier1 - - 21 0 0.00 17 7 29.17 129 0 0.00 62 29 31.87 USH2A 0 genome.wustl.edu 37 1 216251697 216251697 + Missense_Mutation SNP A A C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 1 216251697 216251697 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5306 p.L1769R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 57 0 0.00 8 17 68.00 92 0 0.00 25 31 55.36 SPACA3 0 genome.wustl.edu 37 17 31324480 31324480 + Missense_Mutation SNP C C G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 31324480 31324480 C G SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known missense c.520 p.L174V 0.544 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 tier1 - - 25 0 0.00 12 10 45.45 72 0 0.00 46 23 33.33 TPR 0 genome.wustl.edu 37 1 186302508 186302508 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 1 186302508 186302508 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.5201 p.P1734L 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tR-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 76 0 0.00 7 40 85.11 111 0 0.00 28 21 42.86 ATRX 0 genome.wustl.edu 37 X 76888728 76888728 + Nonsense_Mutation SNP T T A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc X 76888728 76888728 T A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.5101 p.K1701* 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 - - 51 0 0.00 40 30 42.86 65 0 0.00 30 24 44.44 ENSG00000244306 0 genome.wustl.edu 37 14 19891124 19891124 + R SNP T T A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 14 19891124 19891124 T A SNP ENSG00000244306 ENST00000547285 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 31 0 0.00 31 13 29.55 80 0 0.00 54 20 27.03 KEL 0 genome.wustl.edu 37 7 142638486 142638486 + Missense_Mutation SNP C C G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 7 142638486 142638486 C G SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.2052 p.K684N 0.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 - - 47 0 0.00 21 13 38.24 34 0 0.00 14 10 41.67 SLC20A1 0 genome.wustl.edu 37 2 113414763 113414763 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 113414763 113414763 C T SNP SLC20A1 ENST00000272542 human ensembl 74_37 +1 known silent c.723 p.F241 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 tier1 - - 23 0 0.00 23 20 46.51 58 0 0.00 11 25 69.44 CHST10 0 genome.wustl.edu 37 2 101014550 101014550 + Nonsense_Mutation SNP C C A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 101014550 101014550 C A SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known nonsense c.391 p.E131* 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 tier1 - - 33 0 0.00 21 7 25.00 80 0 0.00 26 11 29.73 FSCB 0 genome.wustl.edu 37 14 44976143 44976143 + Missense_Mutation SNP G G C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 14 44976143 44976143 G C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.48 p.H16Q 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 76 0 0.00 58 18 23.68 96 0 0.00 62 13 17.33 FOLH1B 0 genome.wustl.edu 37 11 89385760 89385760 + R SNP C C A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 11 89385760 89385760 C A SNP FOLH1B ENST00000526379 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 107 0 0.00 29 46 61.33 73 0 0.00 18 28 60.87 GVINP1 0 genome.wustl.edu 37 11 6735924 6735924 + R SNP T T A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 11 6735924 6735924 T A SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.878 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 75 0 0.00 21 31 59.62 60 0 0.00 17 13 43.33 ANO2 0 genome.wustl.edu 37 12 5908718 5908718 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 12 5908718 5908718 G A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.1001 p.A334V 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 94 0 0.00 52 13 20.00 90 0 0.00 50 13 20.63 ITPK1-AS1 0 genome.wustl.edu 37 14 93537319 93537319 + R SNP G G T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 14 93537319 93537319 G T SNP ITPK1-AS1 ENST00000553639 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 tier1 - - 46 0 0.00 25 15 37.50 81 0 0.00 34 27 44.26 SASH1 0 genome.wustl.edu 37 6 148852780 148852780 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 6 148852780 148852780 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.1547 p.S516N 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 tier1 - - 70 0 0.00 18 30 62.50 89 0 0.00 12 14 53.85 GFRA3 0 genome.wustl.edu 37 5 137593567 137593567 + Silent SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 5 137593567 137593567 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.546 p.Y182 0.602 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 tier1 - - 20 0 0.00 6 10 62.50 23 0 0.00 11 10 47.62 SHROOM4 0 genome.wustl.edu 37 X 50350911 50350911 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc X 50350911 50350911 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known silent c.3231 p.R1077 0.008 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 - - 48 0 0.00 65 11 14.47 96 0 0.00 59 15 20.27 FAT1 0 genome.wustl.edu 37 4 187629482 187629482 + Silent SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 4 187629482 187629482 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.1500 p.Y500 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 41 0 0.00 31 21 40.38 133 0 0.00 48 40 45.45 MERTK 0 genome.wustl.edu 37 2 112722787 112722787 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 112722787 112722787 C T SNP MERTK ENST00000295408 human ensembl 74_37 +1 known silent c.777 p.V259 0.449 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 44 0 0.00 36 16 30.77 81 0 0.00 32 21 39.62 UQCRC1 0 genome.wustl.edu 37 3 48641757 48641757 + Missense_Mutation SNP T T C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 3 48641757 48641757 T C SNP UQCRC1 ENST00000203407 human ensembl 74_37 -1 known missense c.535 p.M179V 0.001 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC1 HGNC ENSG00000010256 tier1 - - 30 0 0.00 14 14 50.00 49 0 0.00 28 16 36.36 LOC388813 0 genome.wustl.edu 37 21 16015347 16015347 + Silent SNP T T C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 21 16015347 16015347 T C SNP LOC388813 ENST00000400562 human ensembl 74_37 -1 putative silent c.132 p.E44 0.003 NULL NULL - no_errors AF165138.7 Clone_based_vega_gene ENSG00000243440 tier1 - - 86 0 0.00 54 29 34.94 93 0 0.00 48 19 28.36 RB1 0 genome.wustl.edu 37 13 49027153 49027156 + Frame_Shift_Del DEL AAAC AAAC - TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 AAAC AAAC AAAC - AAAC AAAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 13 49027153 49027156 AAAC - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1720_1723 p.K574fs 1.000:1.000:1.000:1.000 superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 100 0 0.00 42 36 46.15 83 0 0.00 24 21 46.67 TP53 0 genome.wustl.edu 37 17 7574025 7574025 + Frame_Shift_Del DEL C C - TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 7574025 7574025 C - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.1002 p.R335fs 0.879 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 30 0 0.00 7 10 58.82 88 0 0.00 10 14 58.33 ANP32AP1 0 genome.wustl.edu 37 15 35530195 35530195 + R SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 15 35530195 35530195 G A SNP ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 - - 80 0 0.00 50 16 24.24 34 0 0.00 9 5 35.71 EMR3 0 genome.wustl.edu 37 19 14752409 14752409 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 19 14752409 14752409 G A SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.1070 p.T357I 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 tier1 - - 39 0 0.00 13 22 62.86 41 0 0.00 9 14 60.87 GPR135 0 genome.wustl.edu 37 14 59931123 59931123 + Silent SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 14 59931123 59931123 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.822 p.G274 0.958 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 tier1 - - 15 0 0.00 11 4 26.67 11 0 0.00 6 2 25.00 PTEN 0 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 rs121909229 - 122 0 0.00 34 66 66.00 34 0 0.00 6 12 66.67 RNF213 0 genome.wustl.edu 37 17 78282903 78282903 + Missense_Mutation SNP A A G TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 78282903 78282903 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2587 p.K863E 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 41 0 0.00 12 26 68.42 71 0 0.00 8 21 72.41 TRRAP 0 genome.wustl.edu 37 7 98602905 98602905 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 7 98602905 98602905 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known silent c.10645 p.L3549 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 36 0 0.00 18 9 33.33 13 0 0.00 6 4 40.00 TTC7A 0 genome.wustl.edu 37 2 47300982 47300982 + Missense_Mutation SNP G G C TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 2 47300982 47300982 G C SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.2497 p.V833L 0.003 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 tier1 - - 23 0 0.00 9 9 50.00 25 0 0.00 7 6 46.15 ANGEL2 0 genome.wustl.edu 37 1 213188755 213188755 + R DEL T T - TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 1 213188755 213188755 T - DEL ANGEL2 ENST00000481918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANGEL2 HGNC ENSG00000174606 tier1 25 0 0.00 8 6 42.86 11 0 0.00 4 1 20.00 HELZ2 0 genome.wustl.edu 37 20 62203295 62203295 + R SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 20 62203295 62203295 G A SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.747 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 rs75418499 - 11 0 0.00 10 5 33.33 9 0 0.00 2 0 0.00 HKDC1 0 genome.wustl.edu 37 10 71025434 71025434 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 10 71025434 71025434 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known silent c.2466 p.C822 0.996 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 tier1 - - 63 0 0.00 42 4 8.70 27 0 0.00 8 0 0.00 MT-ND6 0 genome.wustl.edu 37 MT 14384 14384 + Missense_Mutation SNP G G A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc MT 14384 14384 G A SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known missense c.290 p.A97V NULL pfam_DH_UbQ/plastoQ_OxRdtase_su6 pfam_DH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 tier1 - - 254 0 0.00 38 8 17.39 5 0 0.00 0 0 0.00 SLC16A11 0 genome.wustl.edu 37 17 6946879 6946879 + Missense_Mutation SNP C C A TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 6946879 6946879 C A SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known missense c.26 p.R9M 0.009 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 tier1 - - 11 0 0.00 11 4 26.67 5 0 0.00 9 0 0.00 ACADVL 0 genome.wustl.edu 37 17 7123240 7123241 + R INS - - GGGCGTGCAGGACGC TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 17 7123240 7123241 - GGGCGTGCAGGACGC INS ACADVL ENST00000577857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ACADVL HGNC ENSG00000072778 tier1 2 0 0.00 0 0 0.00 2 0 0.00 0 0 0.00 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + R INS - - ACAC TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 10 0 0.00 4 4 50.00 0 0 0.00 0 0 0.00 BCMO1 0 genome.wustl.edu 37 16 81323975 81323975 + Silent SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 16 81323975 81323975 C T SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known silent c.1437 p.V479 0.992 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 67 0 0.00 51 7 12.07 111 0 0.00 92 2 2.13 ZNF234 0 genome.wustl.edu 37 19 44661971 44661971 + Missense_Mutation SNP G G T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 19 44661971 44661971 G T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1802 p.C601F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 tier1 - - 58 0 0.00 44 4 8.33 45 0 0.00 24 2 7.69 BCMO1 0 genome.wustl.edu 37 16 81323977 81323977 + Missense_Mutation SNP C C T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 16 81323977 81323977 C T SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.1439 p.S480F 0.997 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 - - 66 0 0.00 47 7 12.96 110 0 0.00 92 2 2.13 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943552 99943553 + R INS - - T TCGA-WK-A8Y0-01A-11D-A417-09 TCGA-WK-A8Y0-10D-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq efdaf8c2-1a45-4677-9eac-e5a8ab3dae46 f02bb3c1-15b5-43b8-a511-7e422b29cdbc 7 99943552 99943553 - T INS STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 32 0 0.00 20 3 13.04 49 0 0.00 35 2 5.41