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 FLT4 0 genome.wustl.edu 37 5 180047285 180047285 + Silent SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 5 180047285 180047285 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.2430 p.T810 0.029 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 tier1 rs143907746 GMAF=0.0005 102 0 0.00 48 7 12.73 19 0 0.00 23 9 28.12 APC1 0 genome.wustl.edu 37 2 112615924 112615924 + Missense_Mutation SNP T T A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 2 112615924 112615924 T A SNP APC1 ENST00000341068 human ensembl 74_37 -1 known missense c.1317 p.Q439H 0.748 NULL NULL - no_errors APC1 HGNC ENSG00000153107 tier1 - - 257 0 0.00 93 28 22.95 33 0 0.00 27 4 12.90 RB1 0 genome.wustl.edu 37 13 48947579 48947579 + Nonsense_Mutation SNP T T G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 13 48947579 48947579 T G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1166 p.L389* 1.000 pfam_RB_A,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 - - 38 0 0.00 6 8 57.14 91 0 0.00 45 25 35.71 SORL1 0 genome.wustl.edu 37 11 121429444 121429444 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 11 121429444 121429444 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.2808 p.T936 0.005 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 54 0 0.00 26 4 13.33 66 1 1.47 48 20 29.41 YRDC 0 genome.wustl.edu 37 1 38269624 38269624 + Silent SNP C C A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 38269624 38269624 C A SNP YRDC ENST00000373044 human ensembl 74_37 -1 known silent c.813 p.L271 0.132 NULL pfam_YrdC-like_dom,superfamily_DHBP_synth_RibB-like_a/b_dom,pfscan_YrdC-like_dom,tigrfam_YrdC-like_dom - no_errors YRDC HGNC ENSG00000196449 tier1 - - 88 0 0.00 41 18 30.51 122 0 0.00 141 45 24.19 ABHD10 0 genome.wustl.edu 37 3 111709558 111709558 + Missense_Mutation SNP G G C TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 3 111709558 111709558 G C SNP ABHD10 ENST00000494817 human ensembl 74_37 +1 putative missense c.588 p.R196S 0.103 NULL pfam_AB_hydrolase_1 - no_errors ABHD10 HGNC ENSG00000144827 tier1 - - 58 0 0.00 31 7 18.42 109 0 0.00 87 37 29.84 CXADR 0 genome.wustl.edu 37 21 18937978 18937978 + Missense_Mutation SNP C C G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 21 18937978 18937978 C G SNP CXADR ENST00000284878 human ensembl 74_37 +1 known missense c.1066 p.P356A 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 tier1 - - 84 0 0.00 30 20 40.00 11 0 0.00 15 5 25.00 CLDN24 0 genome.wustl.edu 37 4 184243470 184243470 + Missense_Mutation SNP T T A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 4 184243470 184243470 T A SNP CLDN24 ENST00000541814 human ensembl 74_37 -1 known missense c.110 p.N37I 0.986 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN24 HGNC ENSG00000185758 tier1 - - 94 0 0.00 52 11 17.46 56 0 0.00 94 22 18.97 HOOK1 0 genome.wustl.edu 37 1 60333955 60333955 + Missense_Mutation SNP G G C TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 60333955 60333955 G C SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1879 p.A627P 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 126 0 0.00 58 26 30.59 73 0 0.00 112 49 30.25 CXADR 0 genome.wustl.edu 37 21 18937853 18937853 + Missense_Mutation SNP C C G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 21 18937853 18937853 C G SNP CXADR ENST00000284878 human ensembl 74_37 +1 known missense c.941 p.S314C 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 tier1 - - 89 0 0.00 40 16 28.57 21 0 0.00 29 16 35.56 NPHS1 0 genome.wustl.edu 37 19 36322588 36322588 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 19 36322588 36322588 G A SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.3243 p.V1081 0.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 54 0 0.00 33 10 23.26 26 0 0.00 17 12 41.38 PIKFYVE 0 genome.wustl.edu 37 2 209141504 209141504 + Missense_Mutation SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 2 209141504 209141504 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.391 p.L131F 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,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 tier1 - - 71 0 0.00 21 7 25.00 98 0 0.00 72 30 29.41 IRS1 0 genome.wustl.edu 37 2 227662246 227662246 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 2 227662246 227662246 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.1209 p.T403 0.797 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 tier1 - - 69 0 0.00 33 5 13.16 29 0 0.00 31 14 31.11 XPO1 0 genome.wustl.edu 37 2 61726902 61726902 + Missense_Mutation SNP A A G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 2 61726902 61726902 A G SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.536 p.F179S 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 tier1 - - 63 0 0.00 20 14 41.18 88 0 0.00 67 44 39.64 TMPRSS15 0 genome.wustl.edu 37 21 19647612 19647612 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 21 19647612 19647612 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.2806 p.L936 0.191 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 63 0 0.00 19 9 32.14 55 0 0.00 54 14 20.59 ZNF160 0 genome.wustl.edu 37 19 53576670 53576670 + Silent SNP T T G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 19 53576670 53576670 T G SNP ZNF160 ENST00000355147 human ensembl 74_37 -1 putative silent c.364 p.R122 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF160 HGNC ENSG00000170949 tier1 - - 77 0 0.00 62 11 15.07 65 0 0.00 92 12 11.54 UGT8 0 genome.wustl.edu 37 4 115585186 115585186 + Silent SNP T T C TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 4 115585186 115585186 T C SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known silent c.858 p.H286 0.978 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 tier1 - - 71 0 0.00 27 13 32.50 118 0 0.00 113 59 34.10 TBCE 0 genome.wustl.edu 37 1 235577820 235577820 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 235577820 235577820 G A SNP TBCE ENST00000543662 human ensembl 74_37 +1 known silent c.258 p.K86 0.994 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCE HGNC ENSG00000116957 tier1 - - 70 0 0.00 56 6 9.68 111 1 0.89 117 20 14.49 MROH2B 0 genome.wustl.edu 37 5 41017989 41017989 + Silent SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 5 41017989 41017989 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known silent c.2847 p.A949 0.371 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 65 0 0.00 50 14 21.54 48 0 0.00 96 26 21.31 RALGPS2 0 genome.wustl.edu 37 1 178854229 178854229 + Missense_Mutation SNP C C G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 178854229 178854229 C G SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.923 p.S308C 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 82 0 0.00 76 9 10.59 66 0 0.00 136 20 12.82 THSD7B 0 genome.wustl.edu 37 2 137814609 137814609 + Silent SNP G G T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 2 137814609 137814609 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.759 p.L253 0.998 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 75 0 0.00 29 10 25.00 108 0 0.00 76 43 36.13 SHC4 0 genome.wustl.edu 37 15 49127052 49127052 + Missense_Mutation SNP T T A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 15 49127052 49127052 T A SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.1651 p.S551C 0.998 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 tier1 - - 71 0 0.00 17 8 32.00 103 0 0.00 85 36 29.75 LINC00052 0 genome.wustl.edu 37 15 88121685 88121685 + R SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 15 88121685 88121685 C T SNP LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 - - 59 0 0.00 26 7 21.21 80 0 0.00 90 17 15.89 LPHN2 0 genome.wustl.edu 37 1 82402483 82402483 + Missense_Mutation SNP A A G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 82402483 82402483 A G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.359 p.Y120C 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 66 0 0.00 44 9 16.98 124 0 0.00 154 53 25.60 LYNX1 0 genome.wustl.edu 37 8 143846101 143846101 + Nonsense_Mutation SNP G G T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 8 143846101 143846101 G T SNP LYNX1 ENST00000335822 human ensembl 74_37 -1 known nonsense c.318 p.C106* 0.923 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYNX1 HGNC ENSG00000180155 tier1 - - 147 0 0.00 68 27 28.42 38 0 0.00 49 17 25.76 MS4A14 0 genome.wustl.edu 37 11 60165446 60165446 + Missense_Mutation SNP C C A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 11 60165446 60165446 C A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.260 p.A87E 0.652 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 41 0 0.00 4 17 80.95 119 0 0.00 78 60 43.48 TOPAZ1 0 genome.wustl.edu 37 3 44303960 44303960 + Missense_Mutation SNP A A C TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 3 44303960 44303960 A C SNP TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known missense c.3005 p.Y1002S 0.040 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 tier1 - - 76 0 0.00 21 13 38.24 55 0 0.00 33 18 35.29 CAC1H 0 genome.wustl.edu 37 16 1257370 1257370 + Silent SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 16 1257370 1257370 C T SNP CAC1H ENST00000348261 human ensembl 74_37 +1 known silent c.3003 p.F1001 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CAC1H HGNC ENSG00000196557 tier1 - - 24 0 0.00 6 6 50.00 21 0 0.00 21 10 32.26 UNC13C 0 genome.wustl.edu 37 15 54914551 54914551 + Nonsense_Mutation SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 15 54914551 54914551 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known nonsense c.6133 p.Q2045* 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 27 0 0.00 17 6 26.09 101 0 0.00 105 27 20.45 SCN4B 0 genome.wustl.edu 37 11 118004511 118004511 + R SNP A A G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 11 118004511 118004511 A G SNP SCN4B ENST00000423160 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SCN4B HGNC ENSG00000177098 tier1 - - 35 0 0.00 6 4 40.00 49 0 0.00 43 15 25.86 CFH 0 genome.wustl.edu 37 1 196709781 196709781 + Missense_Mutation SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 196709781 196709781 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.2815 p.H939Y 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 64 0 0.00 57 6 9.52 60 0 0.00 103 11 9.65 C8A 0 genome.wustl.edu 37 1 57378074 57378074 + Splice_Site SNP A A G TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 1 57378074 57378074 A G SNP C8A ENST00000361249 human ensembl 74_37 +1 known splice_site c.1381-2 e10-2 0.910 - - - no_errors C8A HGNC ENSG00000157131 tier1 - - 53 0 0.00 50 12 19.35 38 0 0.00 63 7 9.72 CDK12 0 genome.wustl.edu 37 17 37628001 37628001 + Missense_Mutation SNP A A T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 17 37628001 37628001 A T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1916 p.D639V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 72 0 0.00 36 8 18.18 149 0 0.00 192 21 9.86 SLC25A3 0 genome.wustl.edu 37 12 98989563 98989563 + Silent SNP C C A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 12 98989563 98989563 C A SNP SLC25A3 ENST00000188376 human ensembl 74_37 +1 known silent c.216 p.V72 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 tier1 rs1063501 - 72 0 0.00 42 6 12.50 123 0 0.00 142 12 7.79 AR 0 genome.wustl.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 X 66765161 66765161 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.173 p.Q58L 0.920 pfam_Andrgn_rcpt pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 rs200185441 - 68 0 0.00 43 4 8.51 0 0 0.00 1 0 0.00 CTBP1 0 genome.wustl.edu 37 4 1231728 1231728 + Silent SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 4 1231728 1231728 G A SNP CTBP1 ENST00000510568 human ensembl 74_37 -1 putative silent c.405 p.A135 0.001 NULL NULL - no_errors CTBP1 HGNC ENSG00000159692 tier1 - - 106 1 0.93 66 16 19.28 0 0 0.00 0 0 0.00 SLC25A3 0 genome.wustl.edu 37 12 98987855 98987855 + Silent SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 12 98987855 98987855 C T SNP SLC25A3 ENST00000228318 human ensembl 74_37 +1 known silent c.99 p.S33 0.002 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A3 HGNC ENSG00000075415 tier1 - - 100 0 0.00 40 8 16.67 2 0 0.00 1 1 50.00 ZNF43 0 genome.wustl.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 19 22002025 22002026 - A INS ZNF43 ENST00000354959 human ensembl 74_37 -1 known splice_site_ins c.4-3_4-2 e2-2 0.896:0.834 - - - no_errors ZNF43 HGNC ENSG00000198521 tier1 70 0 0.00 30 3 9.09 1 0 0.00 1 0 0.00 RGMA 0 genome.wustl.edu 37 15 93588269 93588269 + Missense_Mutation SNP C C T TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 15 93588269 93588269 C T SNP RGMA ENST00000329082 human ensembl 74_37 -1 known missense c.1312 p.A438T 0.000 NULL pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 tier1 - - 24 0 0.00 12 6 33.33 4 0 0.00 4 7 58.33 SELPLG 0 genome.wustl.edu 37 12 109017341 109017341 + Missense_Mutation SNP G G A TCGA-K1-A6RU-01A-11D-A32I-09 TCGA-K1-A6RU-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4e02a96d-ef23-4b00-8641-d581b76ddd9b 03aec406-2c3f-495c-9c57-e8a624ff3317 12 109017341 109017341 G A SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.743 p.A248V 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 tier1 - - 97 0 0.00 73 14 16.09 47 0 0.00 55 3 5.17