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 DNM1P46 0 genome.wustl.edu 37 15 100331972 100331972 + R SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 15 100331972 100331972 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.316 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 119 0 0.00 107 36 25.17 17 0 0.00 14 7 33.33 OR4A15 0 genome.wustl.edu 37 11 55135991 55135991 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 11 55135991 55135991 C T SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.632 p.P211L 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 205 0 0.00 83 46 35.66 62 0 0.00 28 23 45.10 EML1 0 genome.wustl.edu 37 14 100402664 100402664 + Silent SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 14 100402664 100402664 C A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known silent c.2145 p.I715 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 53 0 0.00 84 13 13.13 147 0 0.00 374 64 14.61 ATP1A4 0 genome.wustl.edu 37 1 160125005 160125005 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 160125005 160125005 G C SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.378 p.Q126H 0.934 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 73 0 0.00 172 24 12.18 53 1 1.85 211 47 18.08 PROM1 0 genome.wustl.edu 37 4 16014945 16014945 + Missense_Mutation SNP T T C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 4 16014945 16014945 T C SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known missense c.1094 p.N365S 0.999 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 tier1 - - 37 0 0.00 23 8 25.81 59 0 0.00 44 16 26.67 BCAN 0 genome.wustl.edu 37 1 156627954 156627954 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 156627954 156627954 C G SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.2328 p.S776R 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 tier1 - - 105 0 0.00 54 28 34.15 59 0 0.00 46 22 31.43 PAFAH2 0 genome.wustl.edu 37 1 26308893 26308893 + Missense_Mutation SNP T T G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 26308893 26308893 T G SNP PAFAH2 ENST00000374282 human ensembl 74_37 -1 known missense c.628 p.N210H 0.998 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote - no_errors PAFAH2 HGNC ENSG00000158006 tier1 - - 52 0 0.00 31 8 20.51 70 0 0.00 82 21 20.39 DH5 0 genome.wustl.edu 37 5 13727766 13727766 + Splice_Site SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 13727766 13727766 C A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known splice_site c.11884-1 e70-1 1.000 - - - no_errors DH5 HGNC ENSG00000039139 tier1 - - 52 0 0.00 21 31 59.62 80 1 1.23 51 33 39.29 DH5 0 genome.wustl.edu 37 5 13727742 13727742 + Nonsense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 13727742 13727742 C T SNP DH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.11907 p.W3969* 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 - - 52 0 0.00 24 31 56.36 82 0 0.00 54 39 41.94 SLC5A11 0 genome.wustl.edu 37 16 24909327 24909327 + Missense_Mutation SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 16 24909327 24909327 C A SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.903 p.N301K 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 50 0 0.00 37 14 27.45 84 0 0.00 64 27 29.67 AFF3 0 genome.wustl.edu 37 2 100209926 100209926 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 100209926 100209926 C G SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2272 p.D758H 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 72 0 0.00 59 20 25.32 37 0 0.00 28 21 42.86 THSD7B 0 genome.wustl.edu 37 2 138378229 138378229 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 138378229 138378229 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.3741 p.C1247 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 rs200261966 - 80 0 0.00 38 24 38.71 81 0 0.00 38 26 40.62 MTG2 0 genome.wustl.edu 37 20 60774287 60774287 + Missense_Mutation SNP A A G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 20 60774287 60774287 A G SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known missense c.800 p.H267R 0.995 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 tier1 - - 64 0 0.00 40 17 29.31 132 0 0.00 93 40 30.08 ITPR2 0 genome.wustl.edu 37 12 26784883 26784883 + Silent SNP G G T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 26784883 26784883 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.2850 p.I950 0.001 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 93 0 0.00 49 76 60.32 48 0 0.00 49 56 52.83 SMPDL3B 0 genome.wustl.edu 37 1 28282224 28282224 + Silent SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 28282224 28282224 G C SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known silent c.720 p.G240 0.057 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 41 0 0.00 33 11 25.00 91 0 0.00 67 28 29.47 FCRL5 0 genome.wustl.edu 37 1 157504326 157504326 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 157504326 157504326 G C SNP FCRL5 ENST00000368189 human ensembl 74_37 -1 known missense c.1759 p.L587V 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 27 0 0.00 30 8 21.05 83 0 0.00 97 45 31.69 EP400NL 0 genome.wustl.edu 37 12 132588667 132588667 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 132588667 132588667 C T SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.102 p.S34 0.990 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 tier1 - - 82 0 0.00 93 13 12.26 12 0 0.00 30 8 21.05 ATP9B 0 genome.wustl.edu 37 18 76967012 76967012 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 18 76967012 76967012 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.1030 p.G344R 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 tier1 - - 102 0 0.00 275 79 22.32 121 0 0.00 286 75 20.78 ATP1A4 0 genome.wustl.edu 37 1 160124877 160124877 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 160124877 160124877 G A SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.250 p.G84R 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 92 0 0.00 194 43 18.14 92 0 0.00 314 73 18.86 F11R 0 genome.wustl.edu 37 1 160970505 160970505 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 160970505 160970505 C T SNP F11R ENST00000368026 human ensembl 74_37 -1 known missense c.304 p.E102K 0.990 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 tier1 - - 48 0 0.00 47 62 56.88 105 0 0.00 102 92 46.94 OBP2A 0 genome.wustl.edu 37 9 138441743 138441743 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 9 138441743 138441743 C T SNP OBP2A ENST00000340780 human ensembl 74_37 +1 known silent c.640 p.L214 0.235 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors OBP2A HGNC ENSG00000122136 tier1 - - 166 0 0.00 126 32 20.25 50 0 0.00 67 21 23.60 CAB39 0 genome.wustl.edu 37 2 231678816 231678816 + Missense_Mutation SNP G G T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 231678816 231678816 G T SNP CAB39 ENST00000258418 human ensembl 74_37 +1 known missense c.680 p.R227I 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39 HGNC ENSG00000135932 tier1 - - 67 0 0.00 29 6 17.14 54 0 0.00 22 6 21.43 BPIFB4 0 genome.wustl.edu 37 20 31690812 31690812 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 20 31690812 31690812 A T SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.1672 p.N558Y 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 102 1 0.97 98 23 19.01 83 0 0.00 105 32 23.36 EPHB1 0 genome.wustl.edu 37 3 134884887 134884887 + Missense_Mutation SNP T T G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 134884887 134884887 T G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1663 p.S555A 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 140 0 0.00 45 33 42.31 50 0 0.00 33 16 32.65 SLC44A1 0 genome.wustl.edu 37 9 108123581 108123581 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 9 108123581 108123581 C T SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.870 p.L290 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 tier1 - - 189 1 0.53 136 38 21.71 121 0 0.00 85 35 29.17 DOCK8 0 genome.wustl.edu 37 9 396912 396912 + Missense_Mutation SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 9 396912 396912 C A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.3098 p.A1033D 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 56 0 0.00 40 27 39.71 122 0 0.00 127 84 39.81 ITPR2 0 genome.wustl.edu 37 12 26784934 26784934 + Silent SNP G G T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 26784934 26784934 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.2799 p.L933 0.988 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 85 0 0.00 48 83 63.36 44 0 0.00 46 65 58.04 DDX1 0 genome.wustl.edu 37 2 15769733 15769733 + Missense_Mutation SNP A A C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 15769733 15769733 A C SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1883 p.Y628S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_D/R_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 tier1 - - 31 0 0.00 13 5 27.78 62 0 0.00 21 18 46.15 TDRD1 0 genome.wustl.edu 37 10 115964595 115964595 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 10 115964595 115964595 G A SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1240 p.D414N 0.138 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 tier1 - - 58 0 0.00 17 13 43.33 73 0 0.00 57 28 32.94 PRKDC 0 genome.wustl.edu 37 8 48733396 48733396 + Nonsense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 8 48733396 48733396 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known nonsense c.9217 p.Q3073* 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 84 0 0.00 51 17 25.00 34 0 0.00 51 16 23.88 LRRN3 0 genome.wustl.edu 37 7 110762970 110762970 + Missense_Mutation SNP A A G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 7 110762970 110762970 A G SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.142 p.M48V 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 46 0 0.00 39 18 31.58 131 0 0.00 72 28 28.00 HMOX2 0 genome.wustl.edu 37 16 4559676 4559676 + Silent SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 16 4559676 4559676 G C SNP HMOX2 ENST00000219700 human ensembl 74_37 +1 known silent c.870 p.V290 0.995 pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX2 HGNC ENSG00000103415 tier1 - - 48 0 0.00 15 76 82.61 13 0 0.00 18 70 79.55 CUBN 0 genome.wustl.edu 37 10 16870803 16870803 + Splice_Site SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 10 16870803 16870803 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known splice_site c.10764+1 e66+1 1.000 - - - no_errors CUBN HGNC ENSG00000107611 tier1 - - 49 0 0.00 15 20 57.14 24 0 0.00 12 10 45.45 PRLR 0 genome.wustl.edu 37 5 35066042 35066042 + Missense_Mutation SNP G G T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 35066042 35066042 G T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.1018 p.P340T 0.864 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 84 0 0.00 124 51 29.14 94 0 0.00 189 67 26.17 RP1 0 genome.wustl.edu 37 8 55541922 55541922 + Nonsense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 8 55541922 55541922 C G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known nonsense c.5480 p.S1827* 0.993 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 32 0 0.00 24 7 22.58 85 0 0.00 68 22 24.44 PAPOLG 0 genome.wustl.edu 37 2 61020798 61020798 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 61020798 61020798 G C SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.1716 p.K572N 1.000 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_R-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 tier1 - - 117 0 0.00 91 15 14.15 55 0 0.00 38 5 11.63 F11R 0 genome.wustl.edu 37 1 160970420 160970420 + Splice_Site SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 160970420 160970420 C A SNP F11R ENST00000368026 human ensembl 74_37 -1 known splice_site c.388+1 e4+1 1.000 - - - no_errors F11R HGNC ENSG00000158769 tier1 - - 50 0 0.00 56 132 70.21 98 0 0.00 102 233 69.55 KCNH3 0 genome.wustl.edu 37 12 49944060 49944060 + Silent SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 49944060 49944060 C G SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.1866 p.V622 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 59 0 0.00 32 26 44.83 25 0 0.00 16 30 65.22 GRIP1 0 genome.wustl.edu 37 12 66856716 66856716 + Missense_Mutation SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 66856716 66856716 C A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1030 p.G344W 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 88 0 0.00 190 51 21.16 81 0 0.00 236 55 18.84 CSMD1 0 genome.wustl.edu 37 8 3245123 3245123 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 8 3245123 3245123 C G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2678 p.R893T 0.353 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 54 0 0.00 51 12 19.05 53 0 0.00 68 12 15.00 HOXB7 0 genome.wustl.edu 37 17 46685168 46685168 + R SNP T T C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 17 46685168 46685168 T C SNP HOXB7 ENST00000567101 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HOXB7 HGNC ENSG00000260027 tier1 - - 26 0 0.00 20 13 39.39 60 0 0.00 47 16 25.40 ERMN 0 genome.wustl.edu 37 2 158178133 158178133 + Missense_Mutation SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 158178133 158178133 C A SNP ERMN ENST00000397283 human ensembl 74_37 -1 known missense c.544 p.D182Y 0.001 NULL superfamily_Moesin_tail - no_errors ERMN HGNC ENSG00000136541 tier1 - - 86 0 0.00 34 17 33.33 88 0 0.00 41 26 38.81 OR10A7 0 genome.wustl.edu 37 12 55615732 55615732 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 55615732 55615732 A T SNP OR10A7 ENST00000326258 human ensembl 74_37 +1 known missense c.924 p.K308N 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A7 HGNC ENSG00000179919 tier1 - - 18 0 0.00 18 7 28.00 90 0 0.00 89 23 20.35 PLEKHA8P1 0 genome.wustl.edu 37 12 45567096 45567096 + R SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 45567096 45567096 C G SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 103 1 0.96 62 21 25.30 35 0 0.00 28 18 39.13 LRRC8E 0 genome.wustl.edu 37 19 7963872 7963872 + Silent SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 19 7963872 7963872 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known silent c.465 p.K155 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 tier1 - - 62 0 0.00 47 21 30.88 87 0 0.00 102 45 30.41 ITPR2 0 genome.wustl.edu 37 12 26780989 26780989 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 26780989 26780989 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.3041 p.S1014F 0.916 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 tier1 - - 43 0 0.00 19 33 63.46 80 0 0.00 82 133 61.86 EML1 0 genome.wustl.edu 37 14 100402591 100402591 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 14 100402591 100402591 C G SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.2072 p.S691C 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 67 0 0.00 115 27 19.01 166 0 0.00 405 66 13.98 TARSL2 0 genome.wustl.edu 37 15 102211786 102211786 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 15 102211786 102211786 C G SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known missense c.1870 p.D624H 1.000 pfscan_aa-tR-synth_II,prints_Thr-tR-ligase_IIa,tigrfam_Thr-tR-ligase_IIa pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tR_SAD,superfamily_Thr/Ala-tR-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tR_SAD,pfscan_aa-tR-synth_II,prints_Thr-tR-ligase_IIa,tigrfam_Thr-tR-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 tier1 - - 51 0 0.00 45 10 18.18 71 0 0.00 48 14 22.58 PROS1 0 genome.wustl.edu 37 3 93605266 93605266 + Missense_Mutation SNP G G T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 93605266 93605266 G T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1237 p.L413I 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 tier1 - - 56 0 0.00 28 14 33.33 107 0 0.00 49 24 32.88 CRYGS 0 genome.wustl.edu 37 3 186256495 186256495 + Missense_Mutation SNP A A G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 186256495 186256495 A G SNP CRYGS ENST00000307944 human ensembl 74_37 -1 known missense c.527 p.I176T 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC ENSG00000213139 tier1 - - 76 0 0.00 32 17 34.69 83 0 0.00 40 29 42.03 CPAMD8 0 genome.wustl.edu 37 19 17086945 17086945 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 19 17086945 17086945 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1916 p.S639L 0.971 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 34 0 0.00 33 16 32.65 26 0 0.00 33 16 32.65 CCDC181 0 genome.wustl.edu 37 1 169366506 169366506 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 169366506 169366506 C G SNP CCDC181 ENST00000367806 human ensembl 74_37 -1 known missense c.1339 p.G447R 0.885 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 tier1 - - 20 0 0.00 40 11 21.57 55 0 0.00 81 24 22.86 SLITRK1 0 genome.wustl.edu 37 13 84454233 84454233 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 13 84454233 84454233 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1410 p.M470I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 77 0 0.00 47 16 25.40 76 0 0.00 68 22 24.44 RTP2 0 genome.wustl.edu 37 3 187416376 187416376 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 187416376 187416376 G C SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.588 p.F196L 1.000 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 tier1 - - 77 0 0.00 30 29 49.15 65 0 0.00 19 22 53.66 PRRC2B 0 genome.wustl.edu 37 9 134349905 134349905 + Missense_Mutation SNP T T G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 9 134349905 134349905 T G SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.2389 p.F797V 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 70 0 0.00 52 28 35.00 71 0 0.00 66 21 24.14 DYRK2 0 genome.wustl.edu 37 12 68052027 68052027 + Missense_Mutation SNP A A G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 12 68052027 68052027 A G SNP DYRK2 ENST00000344096 human ensembl 74_37 +1 known missense c.1340 p.D447G 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK2 HGNC ENSG00000127334 tier1 - - 32 0 0.00 650 287 30.56 72 0 0.00 1776 633 26.25 TMEM132E 0 genome.wustl.edu 37 17 32963185 32963185 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 17 32963185 32963185 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.1867 p.A623T 0.737 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 71 0 0.00 46 35 43.21 19 0 0.00 20 21 51.22 MYO1F 0 genome.wustl.edu 37 19 8601180 8601180 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 19 8601180 8601180 A T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1999 p.Y667N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 98 0 0.00 66 50 43.10 32 0 0.00 43 27 38.57 NMT3 0 genome.wustl.edu 37 3 139301903 139301903 + R SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 139301903 139301903 C T SNP NMT3 ENST00000507242 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors NMT3 HGNC ENSG00000163864 tier1 - - 46 0 0.00 17 16 48.48 61 0 0.00 30 17 36.17 SV2C 0 genome.wustl.edu 37 5 75621242 75621242 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 75621242 75621242 G A SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.2054 p.G685E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 - - 54 0 0.00 34 8 19.05 37 0 0.00 51 24 32.00 HMCN1 0 genome.wustl.edu 37 1 185902757 185902757 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 185902757 185902757 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.1629 p.I543 0.891 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 71 0 0.00 137 35 20.35 62 0 0.00 174 25 12.56 PRSS42 0 genome.wustl.edu 37 3 46874437 46874437 + Nonsense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 46874437 46874437 G A SNP PRSS42 ENST00000429665 human ensembl 74_37 -1 known nonsense c.631 p.R211* 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS42 HGNC ENSG00000178055 tier1 - - 109 1 0.91 49 33 40.24 81 0 0.00 80 34 29.31 MPO 0 genome.wustl.edu 37 17 56357978 56357978 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 17 56357978 56357978 C T SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.142 p.G48S 0.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 rs200249653 - 39 0 0.00 29 10 25.64 93 0 0.00 80 35 30.43 GUSBP1 0 genome.wustl.edu 37 5 21459642 21459642 + R SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 21459642 21459642 G A SNP GUSBP1 ENST00000508973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 tier1 - - 145 0 0.00 94 41 30.37 43 0 0.00 35 15 30.00 GSDMC 0 genome.wustl.edu 37 8 130760915 130760915 + Silent SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 8 130760915 130760915 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known silent c.1359 p.L453 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 52 0 0.00 16 20 55.56 88 0 0.00 33 48 59.26 OLFML2B 0 genome.wustl.edu 37 1 161976156 161976156 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 1 161976156 161976156 G C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.654 p.I218M 0.000 NULL pfam_Olfac-like,superfamily_-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 76 0 0.00 61 21 25.61 47 0 0.00 32 12 27.27 CASC5 0 genome.wustl.edu 37 15 40907552 40907552 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 15 40907552 40907552 G C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.376 p.E126Q 0.983 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 89 0 0.00 48 15 23.81 50 0 0.00 49 28 36.36 CNTN6 0 genome.wustl.edu 37 3 1415693 1415693 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 3 1415693 1415693 C T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2031 p.A677 0.339 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 rs148069303 - 66 0 0.00 28 17 37.78 116 0 0.00 69 33 32.35 OR5V1 0 genome.wustl.edu 37 6 29323624 29323624 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 6 29323624 29323624 C T SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.349 p.A117T 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 tier1 - - 41 0 0.00 5 22 81.48 92 0 0.00 22 63 74.12 KIR3DL1 0 genome.wustl.edu 37 19 55331443 55331443 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 19 55331443 55331443 G A SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known missense c.631 p.D211N 0.430 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 tier1 - - 116 1 0.85 54 40 42.55 31 0 0.00 32 19 37.25 AKR1B10 0 genome.wustl.edu 37 7 134215401 134215401 + Missense_Mutation SNP C C G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 7 134215401 134215401 C G SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known missense c.73 p.L25V 0.192 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 tier1 - - 73 0 0.00 31 19 38.00 34 0 0.00 13 10 43.48 DH5 0 genome.wustl.edu 37 5 13727719 13727719 + Frame_Shift_Del DEL T T - TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 5 13727719 13727719 T - DEL DH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.11930 p.N3977fs 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 58 0 0.00 30 28 48.28 81 0 0.00 60 36 37.50 XIST 0 genome.wustl.edu 37 X 73071941 73071941 + R DEL A A - TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 X 73071941 73071941 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.531 - - - no_errors XIST HGNC ENSG00000229807 tier1 29 0 0.00 21 3 12.50 15 0 0.00 24 3 11.11 CBLN2 0 genome.wustl.edu 37 18 70205471 70205471 + Silent SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 18 70205471 70205471 G C SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known silent c.615 p.G205 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 tier1 - - 38 0 0.00 8 7 46.67 68 1 1.45 7 24 77.42 CDH22 0 genome.wustl.edu 37 20 44879759 44879759 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 20 44879759 44879759 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.175 p.R59C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 tier1 - - 24 0 0.00 8 17 68.00 13 0 0.00 9 18 66.67 DH3 0 genome.wustl.edu 37 16 21073855 21073855 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 16 21073855 21073855 G A SNP DH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3668 p.S1223L 0.998 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 44 0 0.00 3 29 90.62 100 0 0.00 8 58 87.88 IRS4 0 genome.wustl.edu 37 X 107979563 107979563 + Silent SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 X 107979563 107979563 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.12 p.C4 0.881 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 56 0 0.00 14 19 57.58 25 0 0.00 2 21 91.30 NXPE2 0 genome.wustl.edu 37 11 114550437 114550437 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 11 114550437 114550437 A T SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known missense c.85 p.I29F 0.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 tier1 - - 60 0 0.00 12 15 55.56 82 0 0.00 6 22 78.57 OXR1 0 genome.wustl.edu 37 8 107718618 107718618 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 8 107718618 107718618 A T SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.872 p.D291V 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 tier1 - - 28 0 0.00 10 5 33.33 47 0 0.00 9 11 55.00 P2RY4 0 genome.wustl.edu 37 X 69479070 69479070 + Silent SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 X 69479070 69479070 C T SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known silent c.405 p.L135 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 tier1 - - 35 0 0.00 18 12 40.00 14 0 0.00 7 4 36.36 PASK 0 genome.wustl.edu 37 2 242046865 242046865 + Silent SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 2 242046865 242046865 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.3738 p.R1246 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 tier1 - - 83 0 0.00 12 29 70.73 64 0 0.00 9 18 66.67 MUC12 0 genome.wustl.edu 37 7 100643281 100643281 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 7 100643281 100643281 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.9437 p.T3146I 0.003 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 222 0 0.00 193 20 9.39 143 0 0.00 178 18 9.18 DUPD1 0 genome.wustl.edu 37 10 76797662 76797662 + Nonsense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 10 76797662 76797662 G A SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known nonsense c.595 p.Q199* 0.869 smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 tier1 - - 83 0 0.00 24 10 29.41 8 0 0.00 0 1 100.00 ITPRIPL2 0 genome.wustl.edu 37 16 19126010 19126010 + Missense_Mutation SNP C C A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 16 19126010 19126010 C A SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.227 p.P76H 0.206 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 tier1 - - 15 0 0.00 10 6 37.50 6 0 0.00 3 0 0.00 CC1 0 genome.wustl.edu 37 13 37006164 37006164 + R SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 13 37006164 37006164 G A SNP CC1 ENST00000463403 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CC1 HGNC ENSG00000133101 tier1 - - 25 0 0.00 6 7 53.85 3 0 0.00 1 0 0.00 KLF13 0 genome.wustl.edu 37 15 31664456 31664456 + Missense_Mutation SNP G G A TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 15 31664456 31664456 G A SNP KLF13 ENST00000307145 human ensembl 74_37 +1 known missense c.821 p.R274H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF13 HGNC ENSG00000169926 tier1 - - 26 0 0.00 5 6 54.55 0 0 0.00 2 0 0.00 KRTAP4-8 0 genome.wustl.edu 37 17 39254149 39254149 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 17 39254149 39254149 G C SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.188 p.T63S 0.004 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 tier1 rs201246375 - 109 0 0.00 100 11 9.91 3 0 0.00 5 0 0.00 PNLIPRP3 0 genome.wustl.edu 37 10 118236296 118236296 + Missense_Mutation SNP A A T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 10 118236296 118236296 A T SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1305 p.E435D 0.997 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 57 0 0.00 58 6 9.38 115 0 0.00 116 2 1.69 ZNF215 0 genome.wustl.edu 37 11 6953570 6953570 + Missense_Mutation SNP G G C TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 11 6953570 6953570 G C SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.67 p.E23Q 0.946 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 tier1 - - 33 0 0.00 29 4 12.12 70 0 0.00 80 3 3.61 NXPE4 0 genome.wustl.edu 37 11 114453019 114453019 + Missense_Mutation SNP A A G TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 11 114453019 114453019 A G SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known missense c.821 p.L274P 0.994 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 tier1 - - 109 0 0.00 44 4 8.33 68 0 0.00 35 2 5.41 ATOH1 0 genome.wustl.edu 37 4 94750585 94750585 + Missense_Mutation SNP C C T TCGA-DX-A1L0-01A-11D-A24N-09 TCGA-DX-A1L0-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c188bf5-2c99-4eb4-a774-59c75d53e643 e64c9084-028a-460d-8ebc-5587c4601ea8 4 94750585 94750585 C T SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known missense c.508 p.R170C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 tier1 - - 85 0 0.00 52 11 17.46 31 0 0.00 26 2 7.14