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 RAB9B 0 genome.wustl.edu 37 X 103080663 103080663 + Missense_Mutation SNP C C A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 103080663 103080663 C A SNP RAB9B ENST00000243298 human ensembl 74_37 -1 known missense c.52 p.V18F 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 tier1 - - 30 0 0.00 39 22 36.07 220 1 0.45 185 91 32.85 OTOL1 0 genome.wustl.edu 37 3 161214858 161214858 + Missense_Mutation SNP A A G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 3 161214858 161214858 A G SNP OTOL1 ENST00000327928 human ensembl 74_37 +1 known missense c.263 p.E88G 0.998 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors OTOL1 HGNC ENSG00000182447 tier1 - - 131 0 0.00 93 72 43.64 152 0 0.00 100 68 40.48 FLG2 0 genome.wustl.edu 37 1 152330046 152330046 + Silent SNP A A C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 152330046 152330046 A C SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.216 p.T72 0.992 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 34 0 0.00 46 30 39.47 63 0 0.00 59 39 39.80 SPATA31D1 0 genome.wustl.edu 37 9 84608855 84608855 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 84608855 84608855 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3470 p.T1157I 0.003 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 45 0 0.00 54 46 46.00 37 0 0.00 23 20 46.51 AKAP13 0 genome.wustl.edu 37 15 86118421 86118421 + Missense_Mutation SNP A A G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 15 86118421 86118421 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.722 p.D241G 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 43 0 0.00 57 38 40.00 105 0 0.00 73 40 35.40 TMTC1 0 genome.wustl.edu 37 12 29669380 29669380 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 12 29669380 29669380 C T SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.1885 p.E629K 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 19 0 0.00 41 17 29.31 116 0 0.00 90 51 36.17 MAG 0 genome.wustl.edu 37 19 35793405 35793405 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 35793405 35793405 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1025 p.T342M 0.863 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 rs199924214 - 27 0 0.00 24 26 52.00 101 1 0.98 74 45 37.82 FAM47C 0 genome.wustl.edu 37 X 37028799 37028799 + Silent SNP C C A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 37028799 37028799 C A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.2316 p.S772 0.059 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 131 0 0.00 155 172 52.28 26 0 0.00 40 25 38.46 UBA2 0 genome.wustl.edu 37 19 34949766 34949766 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 34949766 34949766 C G SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.1338 p.S446R 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_D_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 tier1 - - 43 0 0.00 36 17 32.08 109 0 0.00 74 44 37.29 PLG 0 genome.wustl.edu 37 6 161134199 161134199 + R SNP A A C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 6 161134199 161134199 A C SNP PLG ENST00000462918 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLG HGNC ENSG00000122194 tier1 - - 63 0 0.00 58 37 38.95 94 0 0.00 56 40 41.67 VIPR1 0 genome.wustl.edu 37 3 42573303 42573303 + Missense_Mutation SNP A A G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 3 42573303 42573303 A G SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known missense c.860 p.D287G 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 tier1 - - 49 0 0.00 38 28 41.79 127 0 0.00 95 79 45.40 AARS2 0 genome.wustl.edu 37 6 44278041 44278041 + Nonsense_Mutation SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 6 44278041 44278041 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known nonsense c.889 p.Q297* 1.000 pfam_Ala-tR-synth_IIc_N,superfamily_Ala-tR-ligase_IIc_anticod-bd,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc pfam_Ala-tR-synth_IIc_N,pfam_tR_SAD,superfamily_Ala-tR-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tR-synth_IIc_edit,smart_tR_SAD,prints_Ala-tR-lgiase_IIc,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 22 0 0.00 49 32 39.51 54 0 0.00 43 42 49.41 ACSL6 0 genome.wustl.edu 37 5 131305834 131305834 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 5 131305834 131305834 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known silent c.1494 p.G498 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 rs138919958 - 39 0 0.00 43 31 41.33 139 0 0.00 94 66 40.99 CUBN 0 genome.wustl.edu 37 10 16873360 16873360 + Silent SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 10 16873360 16873360 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.10419 p.L3473 0.939 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 28 0 0.00 45 23 33.82 94 0 0.00 81 45 35.71 MIR525 0 genome.wustl.edu 37 19 54200859 54200859 + R SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 54200859 54200859 G A SNP MIR525 ENST00000384978 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors MIR525 HGNC ENSG00000207711 tier1 - - 67 0 0.00 57 58 50.43 92 0 0.00 65 45 40.91 NCOR2 0 genome.wustl.edu 37 12 124832774 124832774 + Missense_Mutation SNP A A T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 12 124832774 124832774 A T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.3952 p.Y1318N 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 48 0 0.00 107 12 10.08 19 0 0.00 22 3 12.00 MLIP 0 genome.wustl.edu 37 6 53986337 53986337 + Silent SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 6 53986337 53986337 C G SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.156 p.T52 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 33 0 0.00 30 21 41.18 153 0 0.00 112 69 38.12 MYF6 0 genome.wustl.edu 37 12 81102319 81102319 + Missense_Mutation SNP T T A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 12 81102319 81102319 T A SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known missense c.536 p.F179Y 1.000 NULL pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 tier1 - - 74 0 0.00 72 44 37.93 84 0 0.00 72 44 37.93 PLIN2 0 genome.wustl.edu 37 9 19116354 19116354 + Silent SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 19116354 19116354 T C SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known silent c.1206 p.V402 1.000 pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 tier1 - - 74 0 0.00 75 67 47.18 107 0 0.00 67 54 44.26 MYH4 0 genome.wustl.edu 37 17 10355349 10355349 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 17 10355349 10355349 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.3647 p.R1216Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 50 0 0.00 107 53 33.12 64 0 0.00 59 29 32.95 ENSG00000228120 0 genome.wustl.edu 37 21 44579697 44579697 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 21 44579697 44579697 G A SNP ENSG00000228120 ENST00000433840 human ensembl 74_37 -1 putative silent c.345 p.N115 0.063 NULL NULL - no_errors AP001631.10 Clone_based_vega_gene ENSG00000228120 tier1 - - 66 0 0.00 70 52 42.62 73 0 0.00 65 54 45.38 THOC2 0 genome.wustl.edu 37 X 122756709 122756709 + Missense_Mutation SNP T T G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 122756709 122756709 T G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.3685 p.K1229Q 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 tier1 - - 51 0 0.00 47 46 49.46 121 0 0.00 72 69 48.94 APC2 0 genome.wustl.edu 37 9 140070253 140070253 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 140070253 140070253 G A SNP APC2 ENST00000323927 human ensembl 74_37 -1 known silent c.1927 p.L643 0.998 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors APC2 HGNC ENSG00000176248 tier1 - - 54 0 0.00 63 47 42.73 54 0 0.00 35 14 28.57 PCNXL2 0 genome.wustl.edu 37 1 233122167 233122167 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 233122167 233122167 T C SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5911 p.T1971A 0.935 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 40 0 0.00 68 33 32.35 51 0 0.00 40 18 31.03 SCML2 0 genome.wustl.edu 37 X 18257532 18257532 + R SNP T T A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 18257532 18257532 T A SNP SCML2 ENST00000491988 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors SCML2 HGNC ENSG00000102098 tier1 - - 42 0 0.00 32 48 60.00 141 1 0.70 152 159 51.13 SPC4 0 genome.wustl.edu 37 9 139275295 139275295 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 139275295 139275295 T C SNP SPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2396 p.H799R 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SPC4 HGNC ENSG00000165684 tier1 - - 76 0 0.00 63 58 47.93 65 0 0.00 27 25 48.08 SLC9A9 0 genome.wustl.edu 37 3 143297459 143297459 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 3 143297459 143297459 T C SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.862 p.M288V 0.993 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 22 0 0.00 35 26 42.62 96 0 0.00 85 43 33.59 SLC15A1 0 genome.wustl.edu 37 13 99340755 99340755 + Missense_Mutation SNP C C A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 13 99340755 99340755 C A SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known missense c.1543 p.A515S 0.995 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 tier1 - - 82 0 0.00 62 47 43.12 139 0 0.00 94 95 50.26 ZDHHC11B 0 genome.wustl.edu 37 5 733873 733873 + Missense_Mutation SNP C C A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 5 733873 733873 C A SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known missense c.1017 p.K339N 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 25 0 0.00 17 9 34.62 114 0 0.00 94 64 40.25 BTK 0 genome.wustl.edu 37 X 100615557 100615557 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 100615557 100615557 C G SNP BTK ENST00000308731 human ensembl 74_37 -1 known missense c.775 p.G259R 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 tier1 - - 26 0 0.00 24 26 52.00 133 0 0.00 80 82 50.62 UGT1A5 0 genome.wustl.edu 37 2 234622417 234622417 + Silent SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 2 234622417 234622417 C T SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known silent c.780 p.D260 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 tier1 - - 75 0 0.00 103 63 37.95 89 0 0.00 56 28 33.33 VTI1A 0 genome.wustl.edu 37 10 114286971 114286971 + R SNP A A C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 10 114286971 114286971 A C SNP VTI1A ENST00000480057 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors VTI1A HGNC ENSG00000151532 tier1 - - 16 0 0.00 14 6 30.00 109 0 0.00 102 37 26.62 CES3 0 genome.wustl.edu 37 16 66998569 66998569 + Missense_Mutation SNP C C A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 16 66998569 66998569 C A SNP CES3 ENST00000303334 human ensembl 74_37 +1 known missense c.758 p.T253K 0.002 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC ENSG00000172828 tier1 - - 54 0 0.00 63 45 41.67 123 0 0.00 84 57 40.43 PPP5C 0 genome.wustl.edu 37 19 46891839 46891839 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 46891839 46891839 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known silent c.1206 p.V402 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 tier1 - - 34 0 0.00 60 45 42.86 83 0 0.00 47 38 44.71 TUBA4A 0 genome.wustl.edu 37 2 220116779 220116779 + Silent SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 2 220116779 220116779 T C SNP TUBA4A ENST00000248437 human ensembl 74_37 -1 known silent c.177 p.G59 0.987 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 tier1 - - 47 0 0.00 42 37 46.84 134 0 0.00 94 73 43.71 TGIF1 0 genome.wustl.edu 37 18 3457483 3457483 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 18 3457483 3457483 T C SNP TGIF1 ENST00000330513 human ensembl 74_37 +1 known missense c.751 p.S251P 0.997 pfam_Homeobox_KN_domain pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 tier1 - - 44 0 0.00 26 47 64.38 78 1 1.27 58 85 59.44 ZNF564 0 genome.wustl.edu 37 19 12638575 12638575 + Missense_Mutation SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 12638575 12638575 G A SNP ZNF564 ENST00000339282 human ensembl 74_37 -1 known missense c.347 p.S116L 0.993 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 ZNF564 HGNC ENSG00000249709 tier1 - - 29 0 0.00 31 26 45.61 118 0 0.00 67 55 45.08 LOC100506302 0 genome.wustl.edu 37 7 155404081 155404081 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 7 155404081 155404081 G A SNP LOC100506302 ENST00000401694 human ensembl 74_37 -1 putative silent c.132 p.I44 0.005 NULL NULL - no_errors AC009403.2 Clone_based_vega_gene ENSG00000216895 tier1 - - 15 0 0.00 31 30 49.18 70 0 0.00 48 36 42.86 CRB1 0 genome.wustl.edu 37 1 197398724 197398724 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 197398724 197398724 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2822 p.P941L 0.009 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 rs77334581 GMAF=0.0005 41 0 0.00 56 27 32.53 81 0 0.00 74 28 27.45 LSAMP 0 genome.wustl.edu 37 3 115535479 115535479 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 3 115535479 115535479 C T SNP LSAMP ENST00000333617 human ensembl 74_37 -1 novel missense c.922 p.V308M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 tier1 - - 43 0 0.00 32 26 44.83 104 1 0.95 124 50 28.74 NGF 0 genome.wustl.edu 37 1 115828887 115828887 + Missense_Mutation SNP G G T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 115828887 115828887 G T SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.530 p.T177N 1.000 pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 tier1 - - 39 0 0.00 34 25 42.37 115 0 0.00 85 62 42.18 LGALS17A 0 genome.wustl.edu 37 19 40172709 40172709 + R SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 40172709 40172709 G A SNP LGALS17A ENST00000412609 human ensembl 74_37 +1 known rna NULL NULL 0.050 - - - no_errors LGALS17A Clone_based_vega_gene ENSG00000226025 tier1 - - 44 0 0.00 67 66 49.62 86 0 0.00 58 49 45.79 CLLU1OS 0 genome.wustl.edu 37 12 92816388 92816388 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 12 92816388 92816388 C G SNP CLLU1OS ENST00000378487 human ensembl 74_37 -1 known missense c.77 p.S26T 0.000 NULL NULL - no_errors CLLU1OS HGNC ENSG00000205057 tier1 - - 42 0 0.00 32 28 46.67 110 0 0.00 88 25 21.93 ZNF786 0 genome.wustl.edu 37 7 148771578 148771578 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 7 148771578 148771578 C G SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.198 p.E66D 0.189 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF786 HGNC ENSG00000197362 tier1 - - 58 0 0.00 28 43 60.56 113 0 0.00 84 64 42.95 CAC1A 0 genome.wustl.edu 37 19 13397420 13397420 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 19 13397420 13397420 G A SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known silent c.3450 p.S1150 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 23 0 0.00 25 20 44.44 36 0 0.00 32 15 31.91 SLC39A6 0 genome.wustl.edu 37 18 33694172 33694172 + Missense_Mutation SNP A A C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 18 33694172 33694172 A C SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.1731 p.S577R 0.997 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 tier1 - - 31 0 0.00 60 19 24.05 101 1 0.98 149 50 25.13 RPA4 0 genome.wustl.edu 37 X 96140083 96140083 + Missense_Mutation SNP G G C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 X 96140083 96140083 G C SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.774 p.K258N 0.026 pirsf_RPA32 pfam_RPA_C,pfam_-bd_OB_tR,superfamily_-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 tier1 - - 17 0 0.00 17 22 56.41 143 0 0.00 117 63 34.81 ALDH18A1 0 genome.wustl.edu 37 10 97402888 97402888 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 10 97402888 97402888 C T SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.164 p.R55H 0.999 pirsf_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 15 0 0.00 18 19 51.35 156 0 0.00 91 53 36.81 CACNG3 0 genome.wustl.edu 37 16 24373086 24373086 + Missense_Mutation SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 16 24373086 24373086 C T SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.850 p.R284W 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 tier1 - - 15 0 0.00 18 23 56.10 115 0 0.00 85 61 41.78 ADRB2 0 genome.wustl.edu 37 5 148206526 148206526 + Silent SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 5 148206526 148206526 C T SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known silent c.132 p.V44 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 tier1 - - 29 0 0.00 34 31 47.69 76 0 0.00 49 27 35.53 TP53 0 genome.wustl.edu 37 17 7577152 7577154 + In_Frame_Del DEL ACC ACC - TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 ACC ACC ACC - ACC ACC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 17 7577152 7577154 ACC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.786_784 p.G262in_frame_del 0.004:1.000:1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 16 0 0.00 4 12 75.00 118 0 0.00 12 65 84.42 ADARB2 0 genome.wustl.edu 37 10 1230815 1230815 + Missense_Mutation SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 10 1230815 1230815 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.2029 p.R677W 0.282 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 52 0 0.00 60 33 35.11 15 0 0.00 9 6 40.00 APOBR 0 genome.wustl.edu 37 16 28507424 28507424 + Silent SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 16 28507424 28507424 C T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known silent c.1062 p.A354 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 rs441214 - 17 0 0.00 27 8 22.86 9 0 0.00 7 3 30.00 ENSG00000265002 0 genome.wustl.edu 37 15 20563408 20563417 + R DEL CCTCTCCCTT CCTCTCCCTT - TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 CCTCTCCCTT CCTCTCCCTT CCTCTCCCTT - CCTCTCCCTT CCTCTCCCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 15 20563408 20563417 CCTCTCCCTT - DEL ENSG00000265002 ENST00000581090 human ensembl 74_37 +1 novel rna NULL NULL 0.055:0.047:0.032:0.034:0.033:0.036:0.075:0.098:0.111:0.132 - - - no_errors AC026495.1 Clone_based_ensembl_gene ENSG00000265002 tier1 6 0 0.00 8 2 20.00 6 0 0.00 8 2 20.00 FGFBP1 0 genome.wustl.edu 37 4 15938241 15938241 + Missense_Mutation SNP G G T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 4 15938241 15938241 G T SNP FGFBP1 ENST00000259988 human ensembl 74_37 -1 known missense c.15 p.S5R 0.494 NULL pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 tier1 - - 35 0 0.00 6 32 84.21 106 0 0.00 8 39 82.98 MRC1 0 genome.wustl.edu 37 10 18122792 18122792 + Missense_Mutation SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 10 18122792 18122792 G A SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known missense c.802 p.G268R 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 tier1 - - 29 0 0.00 1 28 96.55 57 0 0.00 7 44 86.27 PNPLA7 0 genome.wustl.edu 37 9 140379046 140379046 + Silent SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 140379046 140379046 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known silent c.2340 p.S780 0.079 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 122 1 0.81 109 91 45.27 30 0 0.00 8 10 55.56 RB1 0 genome.wustl.edu 37 13 49030390 49030391 + Frame_Shift_Ins INS - - A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 13 49030390 49030391 - A INS RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_ins c.1865_1866 p.N623fs 0.967:0.967 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 41 0 0.00 7 28 80.00 78 0 0.00 7 56 88.89 ZBTB43 0 genome.wustl.edu 37 9 129598673 129598673 + R SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 129598673 129598673 G A SNP ZBTB43 ENST00000497064 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZBTB43 HGNC ENSG00000169155 tier1 - - 21 0 0.00 37 6 13.95 108 0 0.00 166 7 4.05 SLC30A9 0 genome.wustl.edu 37 4 42080286 42080286 + Missense_Mutation SNP G G C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 4 42080286 42080286 G C SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.1606 p.E536Q 1.000 NULL pfam_Cation_efflux,superfamily_D-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 tier1 - - 53 0 0.00 56 5 8.20 81 0 0.00 141 8 5.33 CRNN 0 genome.wustl.edu 37 1 152382389 152382389 + Missense_Mutation SNP A A T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 152382389 152382389 A T SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.1169 p.V390E 0.002 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 tier1 - - 48 0 0.00 122 16 11.59 87 0 0.00 86 5 5.49 IGSF22 0 genome.wustl.edu 37 11 18733913 18733913 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 11 18733913 18733913 T C SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.2114 p.Q705R 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 36 0 0.00 50 8 13.79 128 0 0.00 70 6 7.89 HIRA 0 genome.wustl.edu 37 22 19384361 19384361 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 22 19384361 19384361 C G SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.603 p.W201C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 tier1 - - 34 0 0.00 54 5 8.33 119 0 0.00 157 6 3.68 ENSG00000237281 0 genome.wustl.edu 37 2 219215890 219215890 + R DEL T T - TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 2 219215890 219215890 T - DEL ENSG00000237281 ENST00000411433 human ensembl 74_37 -1 known rna NULL NULL 0.199 - - - no_errors AC021016.8 Clone_based_vega_gene ENSG00000237281 tier1 42 0 0.00 42 4 8.70 44 0 0.00 73 6 7.59 PCDHGB8P 0 genome.wustl.edu 37 5 140807667 140807667 + R SNP G G A TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 5 140807667 140807667 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors PCDHGB8P HGNC ENSG00000248449 tier1 - - 59 0 0.00 69 70 50.36 5 0 0.00 0 0 0.00 FOXD4L3 0 genome.wustl.edu 37 9 70918571 70918571 + Missense_Mutation SNP C C G TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 9 70918571 70918571 C G SNP FOXD4L3 ENST00000342833 human ensembl 74_37 +1 known missense c.704 p.P235R 0.536 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L3 HGNC ENSG00000187559 tier1 - - 36 0 0.00 50 8 13.79 0 0 0.00 0 0 0.00 GOLGA8EP 0 genome.wustl.edu 37 15 23437006 23437006 + R SNP A A T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 15 23437006 23437006 A T SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.574 - - - no_errors GOLGA8EP HGNC ENSG00000175676 tier1 - - 26 0 0.00 12 44 78.57 0 0 0.00 0 0 0.00 LOC101927601 0 genome.wustl.edu 37 15 82637334 82637334 + Missense_Mutation SNP T T C TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 15 82637334 82637334 T C SNP LOC101927601 ENST00000439287 human ensembl 74_37 -1 known missense c.752 p.H251R 0.000 NULL NULL - no_errors GOLGA6L10 Uniprot_gn ENSG00000205281 tier1 rs77281226 - 17 0 0.00 26 7 21.21 0 0 0.00 0 0 0.00 LOR 0 genome.wustl.edu 37 1 153233506 153233506 + Silent SNP C C T TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 1 153233506 153233506 C T SNP LOR ENST00000368742 human ensembl 74_37 +1 known silent c.81 p.G27 0.000 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 - - 17 0 0.00 11 6 35.29 4 0 0.00 3 2 40.00 ENSG00000173213 0 genome.wustl.edu 37 18 47562 47582 + In_Frame_Del DEL ATTGCTGTAAACTGCTCTGAG ATTGCTGTAAACTGCTCTGAG - TCGA-DX-A3UE-01A-11D-A307-09 TCGA-DX-A3UE-10A-01D-A307-09 ATTGCTGTAAACTGCTCTGAG ATTGCTGTAAACTGCTCTGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 99becc09-c06c-445f-946c-0d4950325629 2ae737e8-11a5-4237-9e76-1dc179ac3d11 18 47562 47582 ATTGCTGTAAACTGCTCTGAG - DEL ENSG00000173213 ENST00000308911 human ensembl 74_37 -1 known in_frame_del c.1163_1143 p.SEQFTAM382in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 53 0 0.00 111 2 1.77 53 0 0.00 111 2 1.77