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 RAD50 0 genome.wustl.edu 37 5 131927684 131927684 + Missense_Mutation SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 5 131927684 131927684 C T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.1751 p.S584L 0.853 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 - - 34 0 0.00 18 17 48.57 81 0 0.00 68 37 35.24 HEPHL1 0 genome.wustl.edu 37 11 93796822 93796822 + Silent SNP G G A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 11 93796822 93796822 G A SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known silent c.564 p.S188 0.081 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 tier1 - - 64 0 0.00 27 18 40.00 57 0 0.00 32 19 36.54 CYB5R4 0 genome.wustl.edu 37 6 84665137 84665137 + Silent SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 6 84665137 84665137 C T SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known silent c.1467 p.L489 0.969 pfam_OxRdtase_FAD/D-bd,prints_DH-Cyt_B5_reductase pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/D-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_DH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 tier1 - - 33 0 0.00 40 23 36.51 89 0 0.00 66 27 29.03 CYSTM1 0 genome.wustl.edu 37 5 139623048 139623048 + R SNP G G A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 5 139623048 139623048 G A SNP CYSTM1 ENST00000504227 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CYSTM1 HGNC ENSG00000120306 tier1 - - 33 0 0.00 20 5 20.00 37 0 0.00 23 14 37.84 MYO16 0 genome.wustl.edu 37 13 109535494 109535494 + Missense_Mutation SNP C C A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 13 109535494 109535494 C A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.1447 p.Q483K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 60 0 0.00 50 20 28.57 68 0 0.00 53 22 29.33 RLN1 0 genome.wustl.edu 37 9 5335273 5335273 + Missense_Mutation SNP C C G TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 9 5335273 5335273 C G SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known missense c.536 p.R179T 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 tier1 - - 55 0 0.00 37 13 25.49 100 0 0.00 64 32 33.33 NDN 0 genome.wustl.edu 37 15 23931460 23931460 + Missense_Mutation SNP C C A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 15 23931460 23931460 C A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.905 p.R302I 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 39 0 0.00 22 12 35.29 50 0 0.00 25 15 37.50 TOPBP1 0 genome.wustl.edu 37 3 133329919 133329919 + Missense_Mutation SNP G G C TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 3 133329919 133329919 G C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.4102 p.R1368G 0.991 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 62 0 0.00 61 12 16.44 62 0 0.00 42 20 32.26 DMKN 0 genome.wustl.edu 37 19 35991479 35991479 + Missense_Mutation SNP C C G TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 19 35991479 35991479 C G SNP DMKN ENST00000339686 human ensembl 74_37 -1 known missense c.1243 p.A415P 0.000 NULL NULL - no_errors DMKN HGNC ENSG00000161249 tier1 - - 44 0 0.00 32 9 21.95 52 0 0.00 25 19 43.18 ADAMTS20 0 genome.wustl.edu 37 12 43821142 43821142 + Missense_Mutation SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 12 43821142 43821142 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4076 p.C1359Y 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 65 0 0.00 43 18 29.51 103 0 0.00 78 32 29.09 AZI1 0 genome.wustl.edu 37 17 79193762 79193762 + Missense_Mutation SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 17 79193762 79193762 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.95 p.R32H 0.998 NULL superfamily_t-SRE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 90 0 0.00 67 33 33.00 33 0 0.00 10 11 52.38 SLC38A5 0 genome.wustl.edu 37 X 48321358 48321358 + Missense_Mutation SNP A A T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f X 48321358 48321358 A T SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known missense c.499 p.F167I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 tier1 - - 32 0 0.00 10 15 60.00 37 0 0.00 12 20 62.50 KIR3DX1 0 genome.wustl.edu 37 19 55046966 55046966 + Missense_Mutation SNP G G C TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 19 55046966 55046966 G C SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.511 p.A171P 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 tier1 - - 115 0 0.00 64 32 33.33 78 0 0.00 73 35 32.41 OR13A1 0 genome.wustl.edu 37 10 45799842 45799842 + Missense_Mutation SNP A A C TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 10 45799842 45799842 A C SNP OR13A1 ENST00000374401 human ensembl 74_37 -1 known missense c.29 p.I10R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13A1 HGNC ENSG00000256574 tier1 - - 38 0 0.00 21 15 41.67 84 0 0.00 78 43 35.54 CADPS 0 genome.wustl.edu 37 3 62467517 62467517 + Silent SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 3 62467517 62467517 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.3054 p.V1018 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 92 0 0.00 50 21 29.58 127 0 0.00 94 43 31.16 REEP3 0 genome.wustl.edu 37 10 65380613 65380613 + Missense_Mutation SNP C C G TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 10 65380613 65380613 C G SNP REEP3 ENST00000373758 human ensembl 74_37 +1 known missense c.752 p.P251R 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP3 HGNC ENSG00000165476 tier1 - - 32 0 0.00 27 9 25.00 144 0 0.00 66 16 19.28 TTPA 0 genome.wustl.edu 37 8 63978639 63978639 + Missense_Mutation SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 8 63978639 63978639 C T SNP TTPA ENST00000260116 human ensembl 74_37 -1 known missense c.376 p.V126I 0.989 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 tier1 rs138483857 - 119 0 0.00 87 36 29.27 112 0 0.00 68 23 25.27 ACADL 0 genome.wustl.edu 37 2 211069371 211069371 + Missense_Mutation SNP C C G TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 2 211069371 211069371 C G SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.804 p.L268F 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 - - 50 0 0.00 35 11 23.91 116 0 0.00 97 25 20.33 MUC17 0 genome.wustl.edu 37 7 100682064 100682064 + Missense_Mutation SNP C C A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 7 100682064 100682064 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.7367 p.T2456N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 106 0 0.00 65 23 26.14 33 0 0.00 24 17 41.46 PIK3CD 0 genome.wustl.edu 37 1 9783348 9783348 + Silent SNP G G A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 1 9783348 9783348 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known silent c.2664 p.P888 0.206 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 rs201426574 - 60 0 0.00 43 23 34.85 78 0 0.00 55 21 27.63 UGT1A4 0 genome.wustl.edu 37 2 234627744 234627744 + Missense_Mutation SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 2 234627744 234627744 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.278 p.T93M 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 tier1 rs188914242 GMAF=0.0005 50 0 0.00 23 22 48.89 71 0 0.00 37 23 38.33 ITGB3BP 0 genome.wustl.edu 37 1 63906463 63906464 + R DEL TT TT - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 TT TT TT - TT TT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 1 63906463 63906464 TT - DEL ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.052:0.039 - - - no_errors ITGB3BP HGNC ENSG00000142856 tier1 23 0 0.00 13 5 27.78 104 0 0.00 80 24 23.08 ENSG00000221219 0 genome.wustl.edu 37 4 54969779 54969786 + R DEL CACACACA CACACACA - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 CACACACA CACACACA CACACACA - CACACACA CACACACA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 4 54969779 54969786 CACACACA - DEL ENSG00000221219 ENST00000408292 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000:0.001:0.000:0.000:0.000:0.002:0.001 - - - no_errors AC110298.1 Clone_based_ensembl_gene ENSG00000221219 tier1 17 0 0.00 14 2 12.50 17 0 0.00 14 2 12.50 CYP4F2 0 genome.wustl.edu 37 19 16008347 16008347 + Silent SNP G G A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 19 16008347 16008347 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.75 p.V25 0.003 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 rs142765310 - 114 1 0.87 127 27 17.53 6 0 0.00 6 2 25.00 ENSG00000250026 0 genome.wustl.edu 37 4 69083697 69083697 + R SNP C C G TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 4 69083697 69083697 C G SNP ENSG00000250026 ENST00000504453 human ensembl 74_37 -1 known rna NULL NULL 0.505 - - - no_errors RP11-646E20.6 Clone_based_vega_gene ENSG00000250026 tier1 - - 51 0 0.00 57 7 10.94 71 0 0.00 82 7 7.87 SLC38A1 0 genome.wustl.edu 37 12 46662636 46662658 + Splice_Site DEL CCTCGCACTTACATCGACATGCA CCTCGCACTTACATCGACATGCA - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 CCTCGCACTTACATCGACATGCA CCTCGCACTTACATCGACATGCA CCTCGCACTTACATCGACATGCA - CCTCGCACTTACATCGACATGCA CCTCGCACTTACATCGACATGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 12 46662636 46662658 CCTCGCACTTACATCGACATGCA - DEL SLC38A1 ENST00000546893 human ensembl 74_37 -1 known splice_site_del c.1+12_-10 e1-1 0.843:0.956:0.966:0.983:0.988:0.994:0.992:0.992:0.988:0.955:0.934:0.888:0.341:0.006:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors SLC38A1 HGNC ENSG00000111371 tier1 50 0 0.00 40 4 9.09 50 0 0.00 40 4 9.09 LAMB1 0 genome.wustl.edu 37 7 107575793 107575805 + R DEL TTTTTTTTTTTTT TTTTTTTTTTTTT - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 TTTTTTTTTTTTT TTTTTTTTTTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 7 107575793 107575805 TTTTTTTTTTTTT - DEL LAMB1 ENST00000491196 human ensembl 74_37 -1 putative rna NULL NULL 0.022:0.021:0.019:0.017:0.014:0.011:0.008:0.004:0.003:0.001:0.001:0.000:0.000 - - - no_errors LAMB1 HGNC ENSG00000091136 tier1 11 0 0.00 7 0 0.00 11 0 0.00 7 0 0.00 ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + R SNP G G A TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 74_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000221307 tier1 - - 42 0 0.00 56 9 13.85 0 0 0.00 3 0 0.00 ENSG00000270726 0 genome.wustl.edu 37 X 155255222 155255222 + R SNP C C T TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f X 155255222 155255222 C T SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 59 0 0.00 45 13 22.41 0 0 0.00 0 0 0.00 MT-RNR1 0 genome.wustl.edu 37 MT 673 673 + R SNP T T C TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f MT 673 673 T C SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 406 0 0.00 114 412 78.33 0 0 0.00 0 0 0.00 CAB39 0 genome.wustl.edu 37 2 231683342 231683351 + Frame_Shift_Del DEL GAGCAGTTTA GAGCAGTTTA - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 GAGCAGTTTA GAGCAGTTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 2 231683342 231683351 GAGCAGTTTA - DEL CAB39 ENST00000258418 human ensembl 74_37 +1 known frame_shift_del c.949_958 p.E317fs 1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 109 0 0.00 30 2 6.25 109 0 0.00 30 2 6.25 CAB39 0 genome.wustl.edu 37 2 231683327 231683340 + Frame_Shift_Del DEL GACAGGACGGAGGA GACAGGACGGAGGA - TCGA-DX-A3U5-01A-11D-A228-09 TCGA-DX-A3U5-10A-01D-A22A-09 GACAGGACGGAGGA GACAGGACGGAGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3c963890-6e79-4b16-a4aa-bac04938b4d7 d88d98c1-20d6-4351-a37b-39915181ba3f 2 231683327 231683340 GACAGGACGGAGGA - DEL CAB39 ENST00000258418 human ensembl 74_37 +1 known frame_shift_del c.934_947 p.D312fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.988:1.000:1.000:1.000:1.000:1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 103 0 0.00 26 2 7.14 103 0 0.00 26 2 7.14