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 NEMF 0 genome.wustl.edu 37 14 50295796 50295796 + Missense_Mutation SNP G G C TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 14 50295796 50295796 G C SNP NEMF ENST00000298310 human ensembl 74_37 -1 known missense c.1208 p.T403R 1.000 pfam_Fibro-bd_N pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 tier1 - - 35 0 0.00 2 12 85.71 87 0 0.00 16 27 62.79 TRIOBP 0 genome.wustl.edu 37 22 38131171 38131171 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 22 38131171 38131171 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.4828 p.G1610R 0.067 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 43 0 0.00 23 18 42.86 31 0 0.00 11 5 31.25 PROSER1 0 genome.wustl.edu 37 13 39598657 39598657 + Missense_Mutation SNP T T G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 13 39598657 39598657 T G SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.517 p.N173H 0.989 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 41 0 0.00 7 30 81.08 73 0 0.00 11 29 72.50 FAM122B 0 genome.wustl.edu 37 X 133922773 133922773 + Missense_Mutation SNP C C G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded X 133922773 133922773 C G SNP FAM122B ENST00000343004 human ensembl 74_37 -1 known missense c.422 p.R141T 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 tier1 - - 56 0 0.00 37 24 39.34 115 0 0.00 63 43 40.57 ANKRD50 0 genome.wustl.edu 37 4 125593642 125593642 + Nonsense_Mutation SNP T T A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 4 125593642 125593642 T A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known nonsense c.790 p.K264* 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 28 0 0.00 23 16 40.00 62 0 0.00 81 30 27.03 ARNT 0 genome.wustl.edu 37 1 150804195 150804195 + R SNP A A G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 1 150804195 150804195 A G SNP ARNT ENST00000468970 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ARNT HGNC ENSG00000143437 tier1 - - 37 0 0.00 22 17 43.59 92 0 0.00 120 54 31.03 OR8D1 0 genome.wustl.edu 37 11 124180329 124180329 + Missense_Mutation SNP C C A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 124180329 124180329 C A SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.334 p.G112C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 63 0 0.00 38 27 41.54 111 0 0.00 59 37 38.54 TIMELESS 0 genome.wustl.edu 37 12 56827326 56827326 + Missense_Mutation SNP T T C TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 12 56827326 56827326 T C SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.362 p.K121R 1.000 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 29 0 0.00 3 13 81.25 131 0 0.00 17 34 66.67 ZBTB3 0 genome.wustl.edu 37 11 62520110 62520110 + Nonsense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 62520110 62520110 G A SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known nonsense c.1177 p.Q393* 0.008 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 tier1 - - 37 0 0.00 22 13 37.14 72 1 1.37 35 24 40.68 POM121L2 0 genome.wustl.edu 37 6 27278742 27278742 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 6 27278742 27278742 G A SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.1208 p.P403L 0.001 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 64 0 0.00 44 17 27.87 72 0 0.00 46 18 28.12 SCN1A 0 genome.wustl.edu 37 2 166854673 166854673 + Missense_Mutation SNP G G T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 2 166854673 166854673 G T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4351 p.P1451T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 36 0 0.00 28 13 30.95 100 0 0.00 56 47 45.63 ELL3 0 genome.wustl.edu 37 15 44067551 44067551 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 15 44067551 44067551 G A SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known missense c.598 p.P200S 0.982 pfam_R_pol_II_elong_fac_ELL pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 tier1 - - 21 0 0.00 2 18 90.00 139 0 0.00 20 53 72.60 RELN 0 genome.wustl.edu 37 7 103251252 103251252 + Missense_Mutation SNP T T A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 7 103251252 103251252 T A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.2898 p.E966D 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 49 0 0.00 11 20 64.52 145 0 0.00 63 34 35.05 OR1G1 0 genome.wustl.edu 37 17 3030180 3030180 + Missense_Mutation SNP G G C TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 17 3030180 3030180 G C SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known missense c.666 p.F222L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 tier1 - - 48 0 0.00 18 14 42.42 78 0 0.00 48 30 38.46 SMC3 0 genome.wustl.edu 37 10 112349397 112349397 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 10 112349397 112349397 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.1340 p.R447Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 tier1 - - 18 0 0.00 4 7 63.64 86 0 0.00 13 38 74.51 MALAT1 0 genome.wustl.edu 37 11 65270167 65270167 + R SNP G G T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 65270167 65270167 G T SNP MALAT1 ENST00000508832 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 21 0 0.00 26 8 23.53 88 0 0.00 51 35 40.70 AHK2 0 genome.wustl.edu 37 14 105420716 105420716 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 14 105420716 105420716 C T SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1072 p.E358K 0.006 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 41 0 0.00 22 6 21.43 43 0 0.00 17 10 37.04 ENSG00000249034 0 genome.wustl.edu 37 5 140242448 140242448 + Silent SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 5 140242448 140242448 G A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known silent c.528 p.S176 0.839 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 tier1 - - 100 0 0.00 75 8 9.64 22 0 0.00 13 5 27.78 ABCC11 0 genome.wustl.edu 37 16 48218534 48218534 + Missense_Mutation SNP A A T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 16 48218534 48218534 A T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.3075 p.F1025L 0.987 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 31 0 0.00 3 19 86.36 108 0 0.00 13 42 76.36 STON1 0 genome.wustl.edu 37 2 48822428 48822428 + Missense_Mutation SNP G G T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 2 48822428 48822428 G T SNP STON1 ENST00000309835 human ensembl 74_37 +1 known missense c.2195 p.C732F 0.998 pirsf_Stonin pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1 HGNC ENSG00000243244 tier1 - - 49 0 0.00 39 25 39.06 82 0 0.00 50 29 36.71 TEX30 0 genome.wustl.edu 37 13 103419825 103419825 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 13 103419825 103419825 C T SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known missense c.302 p.R101H 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 tier1 - - 27 0 0.00 17 16 48.48 79 0 0.00 62 53 45.69 CNOT1 0 genome.wustl.edu 37 16 58575428 58575428 + Missense_Mutation SNP C C G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 16 58575428 58575428 C G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.4777 p.G1593R 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 32 0 0.00 4 15 78.95 136 0 0.00 22 61 73.49 FAM122B 0 genome.wustl.edu 37 X 133922772 133922772 + Missense_Mutation SNP C C A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded X 133922772 133922772 C A SNP FAM122B ENST00000343004 human ensembl 74_37 -1 known missense c.423 p.R141S 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 tier1 - - 59 0 0.00 36 24 39.34 115 0 0.00 63 43 40.57 PLA2G12B 0 genome.wustl.edu 37 10 74714308 74714308 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 10 74714308 74714308 C T SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known missense c.136 p.V46I 0.997 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 tier1 - - 40 0 0.00 14 26 65.00 80 0 0.00 11 27 71.05 ROBO3 0 genome.wustl.edu 37 11 124743602 124743602 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 124743602 124743602 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.1628 p.G543E 0.589 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 26 0 0.00 15 12 44.44 76 0 0.00 54 21 28.00 ASTL 0 genome.wustl.edu 37 2 96803348 96803348 + Silent SNP G G T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 2 96803348 96803348 G T SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.147 p.A49 0.000 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 tier1 - - 64 0 0.00 36 39 52.00 96 0 0.00 49 35 41.67 AHK 0 genome.wustl.edu 37 11 62296044 62296044 + Missense_Mutation SNP C C G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 62296044 62296044 C G SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.5845 p.G1949R 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 104 1 0.95 71 38 34.86 64 0 0.00 40 33 45.21 SLC6A17 0 genome.wustl.edu 37 1 110717458 110717458 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 1 110717458 110717458 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.629 p.A210V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_orphan pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 53 0 0.00 22 19 46.34 71 0 0.00 27 16 37.21 FOLR3 0 genome.wustl.edu 37 11 71850758 71850758 + Silent SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 71850758 71850758 C T SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known silent c.747 p.G249 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 45 0 0.00 21 24 53.33 22 0 0.00 11 11 50.00 ATRX 0 genome.wustl.edu 37 X 76814204 76814204 + Missense_Mutation SNP C C A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded X 76814204 76814204 C A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.6440 p.S2147I 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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 - - 74 0 0.00 59 23 28.05 115 0 0.00 72 82 53.25 TRAPPC3 0 genome.wustl.edu 37 1 36602255 36602255 + R SNP G G C TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 1 36602255 36602255 G C SNP TRAPPC3 ENST00000462715 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 46 0 0.00 33 17 34.00 108 0 0.00 62 39 38.24 COPS4 0 genome.wustl.edu 37 4 83987594 83987594 + Missense_Mutation SNP C C G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 4 83987594 83987594 C G SNP COPS4 ENST00000264389 human ensembl 74_37 +1 known missense c.890 p.S297C 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS4 HGNC ENSG00000138663 tier1 - - 38 0 0.00 25 14 35.90 83 0 0.00 45 47 51.09 P4HA2 0 genome.wustl.edu 37 5 131528746 131528746 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 5 131528746 131528746 C T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.1565 p.G522E 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 tier1 - - 22 0 0.00 22 18 45.00 108 0 0.00 88 44 32.84 SMARCA2 0 genome.wustl.edu 37 9 2097414 2097414 + Silent SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 9 2097414 2097414 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.3021 p.N1007 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 40 0 0.00 12 20 60.61 83 0 0.00 53 41 43.62 SNTG1 0 genome.wustl.edu 37 8 51363127 51363127 + Missense_Mutation SNP G G A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 8 51363127 51363127 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.289 p.G97R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 53 0 0.00 38 25 39.68 98 0 0.00 49 43 46.74 NHSL2 0 genome.wustl.edu 37 X 71359451 71359451 + Missense_Mutation SNP A A T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded X 71359451 71359451 A T SNP NHSL2 ENST00000540800 human ensembl 74_37 +1 known missense c.2053 p.T685S 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 tier1 - - 26 0 0.00 20 10 33.33 81 0 0.00 46 20 30.30 SIGLEC17P 0 genome.wustl.edu 37 19 51675359 51675359 + R SNP C C A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 19 51675359 51675359 C A SNP SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SIGLEC17P HGNC ENSG00000171101 tier1 - - 173 1 0.57 98 65 39.63 135 0 0.00 81 38 31.93 C3AR1 0 genome.wustl.edu 37 12 8212621 8212621 + Missense_Mutation SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 12 8212621 8212621 C T SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.161 p.R54Q 0.414 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 tier1 - - 30 0 0.00 18 28 60.87 93 0 0.00 35 60 63.16 PHKA2 0 genome.wustl.edu 37 X 18915280 18915280 + Splice_Site DEL C C - TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded X 18915280 18915280 C - DEL PHKA2 ENST00000379942 human ensembl 74_37 -1 known splice_site_del c.3282+1 e30+1 1.000 - - - no_errors PHKA2 HGNC ENSG00000044446 tier1 62 0 0.00 32 40 55.56 73 0 0.00 35 21 37.50 VPS13B 0 genome.wustl.edu 37 8 100026141 100026142 + Frame_Shift_Ins INS - - A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 8 100026141 100026142 - A INS VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_ins c.125_126 p.L44fs 1.000:1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 66 0 0.00 51 24 32.00 126 0 0.00 79 42 34.71 CCDC85B 0 genome.wustl.edu 37 11 65658627 65658627 + Missense_Mutation SNP G G T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 11 65658627 65658627 G T SNP CCDC85B ENST00000312579 human ensembl 74_37 +1 known missense c.373 p.G125C 1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85B HGNC ENSG00000175602 tier1 - - 19 0 0.00 6 5 45.45 17 0 0.00 6 2 25.00 QRFPR 0 genome.wustl.edu 37 4 122301664 122301664 + Missense_Mutation SNP C C A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 4 122301664 122301664 C A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.139 p.A47S 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 34 0 0.00 17 27 61.36 10 0 0.00 4 7 63.64 TGM4 0 genome.wustl.edu 37 3 44916168 44916168 + R SNP G G C TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 3 44916168 44916168 G C SNP TGM4 ENST00000471637 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TGM4 HGNC ENSG00000163810 tier1 - - 65 0 0.00 11 29 72.50 66 0 0.00 8 36 81.82 WNT5B 0 genome.wustl.edu 37 12 1755193 1755193 + Silent SNP C C T TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 12 1755193 1755193 C T SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known silent c.855 p.P285 0.016 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 tier1 - - 58 0 0.00 31 23 41.82 7 0 0.00 7 8 53.33 PROM1 0 genome.wustl.edu 37 4 15993986 15993986 + Missense_Mutation SNP T T A TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 4 15993986 15993986 T A SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known missense c.1796 p.E599V 0.017 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 tier1 - - 37 0 0.00 10 8 44.44 111 2 1.77 53 43 44.79 CCDC159 0 genome.wustl.edu 37 19 11459737 11459737 + Nonstop_Mutation SNP A A G TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 19 11459737 11459737 A G SNP CCDC159 ENST00000590636 human ensembl 74_37 +1 known nonstop c.117 p.*39W 0.000 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 tier1 - - 30 0 0.00 21 8 27.59 17 0 0.00 5 0 0.00 LOC100133091 0 genome.wustl.edu 37 7 76256104 76256105 + R INS - - GGAGGGCGGTGT TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 7 76256104 76256105 - GGAGGGCGGTGT INS LOC100133091 ENST00000418663 human ensembl 74_37 +1 known rna NULL NULL 0.012:0.012 - - - no_errors AC004980.7 Clone_based_vega_gene ENSG00000205485 tier1 10 0 0.00 6 1 14.29 10 0 0.00 6 1 14.29 WISP2 0 genome.wustl.edu 37 20 43343900 43343905 + R DEL GTGAGC GTGAGC - TCGA-JV-A5VE-01A-11D-A29N-09 TCGA-JV-A5VE-10A-01D-A29N-09 GTGAGC GTGAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2809193b-495e-4159-9be7-fd3e2f4192b5 ca89a56f-8f9e-485f-8106-8c0c0cc69ded 20 43343900 43343905 GTGAGC - DEL WISP2 ENST00000497421 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.006:0.005:0.000:0.000:0.000 - - - no_errors WISP2 HGNC ENSG00000064205 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00